Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.75985988C>ACA456331399PORc.1510C>A (p.Arg504=)
c.1636C>A (p.Arg546=)
c.1735C>A (p.Arg579=)
c.*109-72C>A (n.*109-72C>A)
c.949C>A (p.Arg317=)
c.1886C>A
c.*1040C>A (n.*1040C>A)
n.346C>A
c.1789C>A (p.Arg597=)
c.1585C>A (p.Arg529=)
c.1726C>A (p.Arg576=)
c.1780C>A (p.Arg594=)
c.1576C>A (p.Arg526=)
 gnomAD v4
7g.75985988C=CA1718180466PORc.1510C= (p.Arg504=)
c.1636C= (p.Arg546=)
c.1735C= (p.Arg579=)
c.*109-72C= (n.*109-72C=)
c.949C= (p.Arg317=)
c.1886C=
c.*1040C= (n.*1040C=)
n.346C=
c.1789C= (p.Arg597=)
c.1585C= (p.Arg529=)
c.1726C= (p.Arg576=)
c.1780C= (p.Arg594=)
c.1576C= (p.Arg526=)
7g.75985988C>GCA367750562PORc.1510C>G (p.Arg504Gly)
c.1636C>G (p.Arg546Gly)
c.1735C>G (p.Arg579Gly)
c.*109-72C>G (n.*109-72C>G)
c.949C>G (p.Arg317Gly)
c.1886C>G
c.*1040C>G (n.*1040C>G)
n.346C>G
c.1789C>G (p.Arg597Gly)
c.1585C>G (p.Arg529Gly)
c.1726C>G (p.Arg576Gly)
c.1780C>G (p.Arg594Gly)
c.1576C>G (p.Arg526Gly)
7g.75985988C>TCA367750563PORc.1510C>T (p.Arg504Trp)
c.1636C>T (p.Arg546Trp)
c.1735C>T (p.Arg579Trp)
c.*109-72C>T (n.*109-72C>T)
c.949C>T (p.Arg317Trp)
c.1886C>T
c.*1040C>T (n.*1040C>T)
n.346C>T
c.1789C>T (p.Arg597Trp)
c.1585C>T (p.Arg529Trp)
c.1726C>T (p.Arg576Trp)
c.1780C>T (p.Arg594Trp)
c.1576C>T (p.Arg526Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985989G>ACA4304265PORc.1511G>A (p.Arg504Gln)
c.1637G>A (p.Arg546Gln)
c.1736G>A (p.Arg579Gln)
c.*109-71G>A (n.*109-71G>A)
c.950G>A (p.Arg317Gln)
c.1887G>A
c.*1041G>A (n.*1041G>A)
n.347G>A
c.1790G>A (p.Arg597Gln)
c.1586G>A (p.Arg529Gln)
c.1727G>A (p.Arg576Gln)
c.1781G>A (p.Arg594Gln)
c.1577G>A (p.Arg526Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985989G>CCA4304266PORc.1511G>C (p.Arg504Pro)
c.1637G>C (p.Arg546Pro)
c.1736G>C (p.Arg579Pro)
c.*109-71G>C (n.*109-71G>C)
c.950G>C (p.Arg317Pro)
c.1887G>C
c.*1041G>C (n.*1041G>C)
n.347G>C
c.1790G>C (p.Arg597Pro)
c.1586G>C (p.Arg529Pro)
c.1727G>C (p.Arg576Pro)
c.1781G>C (p.Arg594Pro)
c.1577G>C (p.Arg526Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985989G=CA1718180467PORc.1511G= (p.Arg504=)
c.1637G= (p.Arg546=)
c.1736G= (p.Arg579=)
c.*109-71G= (n.*109-71G=)
c.950G= (p.Arg317=)
c.1887G=
c.*1041G= (n.*1041G=)
n.347G=
c.1790G= (p.Arg597=)
c.1586G= (p.Arg529=)
c.1727G= (p.Arg576=)
c.1781G= (p.Arg594=)
c.1577G= (p.Arg526=)
7g.75985989G>TCA367750564PORc.1511G>T (p.Arg504Leu)
c.1637G>T (p.Arg546Leu)
c.1736G>T (p.Arg579Leu)
c.*109-71G>T (n.*109-71G>T)
c.950G>T (p.Arg317Leu)
c.1887G>T
c.*1041G>T (n.*1041G>T)
n.347G>T
c.1790G>T (p.Arg597Leu)
c.1586G>T (p.Arg529Leu)
c.1727G>T (p.Arg576Leu)
c.1781G>T (p.Arg594Leu)
c.1577G>T (p.Arg526Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.75985990G>ACA456331400PORc.1512G>A (p.Arg504=)
c.1638G>A (p.Arg546=)
c.1737G>A (p.Arg579=)
c.*109-70G>A (n.*109-70G>A)
c.951G>A (p.Arg317=)
c.1888G>A
c.*1042G>A (n.*1042G>A)
n.348G>A
c.1791G>A (p.Arg597=)
c.1587G>A (p.Arg529=)
c.1728G>A (p.Arg576=)
c.1782G>A (p.Arg594=)
c.1578G>A (p.Arg526=)
 gnomAD v4
7g.75985990G>CCA456331401PORc.1512G>C (p.Arg504=)
c.1638G>C (p.Arg546=)
c.1737G>C (p.Arg579=)
c.*109-70G>C (n.*109-70G>C)
c.951G>C (p.Arg317=)
c.1888G>C
c.*1042G>C (n.*1042G>C)
n.348G>C
c.1791G>C (p.Arg597=)
c.1587G>C (p.Arg529=)
c.1728G>C (p.Arg576=)
c.1782G>C (p.Arg594=)
c.1578G>C (p.Arg526=)
7g.75985990G>TCA456331403PORc.1512G>T (p.Arg504=)
c.1638G>T (p.Arg546=)
c.1737G>T (p.Arg579=)
c.*109-70G>T (n.*109-70G>T)
c.951G>T (p.Arg317=)
c.1888G>T
c.*1042G>T (n.*1042G>T)
n.348G>T
c.1791G>T (p.Arg597=)
c.1587G>T (p.Arg529=)
c.1728G>T (p.Arg576=)
c.1782G>T (p.Arg594=)
c.1578G>T (p.Arg526=)
 gnomAD v4
7g.75985991G>ACA367750565PORc.1513G>A (p.Glu505Lys)
c.1639G>A (p.Glu547Lys)
c.1738G>A (p.Glu580Lys)
c.*109-69G>A (n.*109-69G>A)
c.952G>A (p.Glu318Lys)
c.1889G>A
c.*1043G>A (n.*1043G>A)
n.349G>A
c.1792G>A (p.Glu598Lys)
c.1588G>A (p.Glu530Lys)
c.1729G>A (p.Glu577Lys)
c.1783G>A (p.Glu595Lys)
c.1579G>A (p.Glu527Lys)
7g.75985991G>CCA4304267PORc.1513G>C (p.Glu505Gln)
c.1639G>C (p.Glu547Gln)
c.1738G>C (p.Glu580Gln)
c.*109-69G>C (n.*109-69G>C)
c.952G>C (p.Glu318Gln)
c.1889G>C
c.*1043G>C (n.*1043G>C)
n.349G>C
c.1792G>C (p.Glu598Gln)
c.1588G>C (p.Glu530Gln)
c.1729G>C (p.Glu577Gln)
c.1783G>C (p.Glu595Gln)
c.1579G>C (p.Glu527Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75985991G=CA1718180468PORc.1513G= (p.Glu505=)
c.1639G= (p.Glu547=)
c.1738G= (p.Glu580=)
c.*109-69G= (n.*109-69G=)
c.952G= (p.Glu318=)
c.1889G=
c.*1043G= (n.*1043G=)
n.349G=
c.1792G= (p.Glu598=)
c.1588G= (p.Glu530=)
c.1729G= (p.Glu577=)
c.1783G= (p.Glu595=)
c.1579G= (p.Glu527=)
7g.75985991G>TCA367750566PORc.1513G>T (p.Glu505Ter)
c.1639G>T (p.Glu547Ter)
c.1738G>T (p.Glu580Ter)
c.*109-69G>T (n.*109-69G>T)
c.952G>T (p.Glu318Ter)
c.1889G>T
c.*1043G>T (n.*1043G>T)
n.349G>T
c.1792G>T (p.Glu598Ter)
c.1588G>T (p.Glu530Ter)
c.1729G>T (p.Glu577Ter)
c.1783G>T (p.Glu595Ter)
c.1579G>T (p.Glu527Ter)
 gnomAD v4
7g.75985992A>CCA367750567PORc.1514A>C (p.Glu505Ala)
c.1640A>C (p.Glu547Ala)
c.1739A>C (p.Glu580Ala)
c.*109-68A>C (n.*109-68A>C)
c.953A>C (p.Glu318Ala)
c.1890A>C
c.*1044A>C (n.*1044A>C)
n.350A>C
c.1793A>C (p.Glu598Ala)
c.1589A>C (p.Glu530Ala)
c.1730A>C (p.Glu577Ala)
c.1784A>C (p.Glu595Ala)
c.1580A>C (p.Glu527Ala)
7g.75985992A>GCA367750569PORc.1514A>G (p.Glu505Gly)
c.1640A>G (p.Glu547Gly)
c.1739A>G (p.Glu580Gly)
c.*109-68A>G (n.*109-68A>G)
c.953A>G (p.Glu318Gly)
c.1890A>G
c.*1044A>G (n.*1044A>G)
n.350A>G
c.1793A>G (p.Glu598Gly)
c.1589A>G (p.Glu530Gly)
c.1730A>G (p.Glu577Gly)
c.1784A>G (p.Glu595Gly)
c.1580A>G (p.Glu527Gly)
 gnomAD v4
7g.75985992A>TCA367750568PORc.1514A>T (p.Glu505Val)
c.1640A>T (p.Glu547Val)
c.1739A>T (p.Glu580Val)
c.*109-68A>T (n.*109-68A>T)
c.953A>T (p.Glu318Val)
c.1890A>T
c.*1044A>T (n.*1044A>T)
n.350A>T
c.1793A>T (p.Glu598Val)
c.1589A>T (p.Glu530Val)
c.1730A>T (p.Glu577Val)
c.1784A>T (p.Glu595Val)
c.1580A>T (p.Glu527Val)
 gnomAD v3 gnomAD v4
7g.75985993G>ACA456331407PORc.1515G>A (p.Glu505=)
c.1641G>A (p.Glu547=)
c.1740G>A (p.Glu580=)
c.*109-67G>A (n.*109-67G>A)
c.954G>A (p.Glu318=)
c.1891G>A
c.*1045G>A (n.*1045G>A)
n.351G>A
c.1794G>A (p.Glu598=)
c.1590G>A (p.Glu530=)
c.1731G>A (p.Glu577=)
c.1785G>A (p.Glu595=)
c.1581G>A (p.Glu527=)
 ClinVar
7g.75985993G>CCA367750570PORc.1515G>C (p.Glu505Asp)
c.1641G>C (p.Glu547Asp)
c.1740G>C (p.Glu580Asp)
c.*109-67G>C (n.*109-67G>C)
c.954G>C (p.Glu318Asp)
c.1891G>C
c.*1045G>C (n.*1045G>C)
n.351G>C
c.1794G>C (p.Glu598Asp)
c.1590G>C (p.Glu530Asp)
c.1731G>C (p.Glu577Asp)
c.1785G>C (p.Glu595Asp)
c.1581G>C (p.Glu527Asp)
7g.75985993G>TCA367750571PORc.1515G>T (p.Glu505Asp)
c.1641G>T (p.Glu547Asp)
c.1740G>T (p.Glu580Asp)
c.*109-67G>T (n.*109-67G>T)
c.954G>T (p.Glu318Asp)
c.1891G>T
c.*1045G>T (n.*1045G>T)
n.351G>T
c.1794G>T (p.Glu598Asp)
c.1590G>T (p.Glu530Asp)
c.1731G>T (p.Glu577Asp)
c.1785G>T (p.Glu595Asp)
c.1581G>T (p.Glu527Asp)
 gnomAD v4
7g.75985994G>ACA367750572PORc.1516G>A (p.Glu506Lys)
c.1642G>A (p.Glu548Lys)
c.1741G>A (p.Glu581Lys)
c.*109-66G>A (n.*109-66G>A)
c.955G>A (p.Glu319Lys)
c.1892G>A
c.*1046G>A (n.*1046G>A)
n.352G>A
c.1795G>A (p.Glu599Lys)
c.1591G>A (p.Glu531Lys)
c.1732G>A (p.Glu578Lys)
c.1786G>A (p.Glu596Lys)
c.1582G>A (p.Glu528Lys)
7g.75985994G>CCA367750573PORc.1516G>C (p.Glu506Gln)
c.1642G>C (p.Glu548Gln)
c.1741G>C (p.Glu581Gln)
c.*109-66G>C (n.*109-66G>C)
c.955G>C (p.Glu319Gln)
c.1892G>C
c.*1046G>C (n.*1046G>C)
n.352G>C
c.1795G>C (p.Glu599Gln)
c.1591G>C (p.Glu531Gln)
c.1732G>C (p.Glu578Gln)
c.1786G>C (p.Glu596Gln)
c.1582G>C (p.Glu528Gln)
7g.75985994G>TCA367750574PORc.1516G>T (p.Glu506Ter)
c.1642G>T (p.Glu548Ter)
c.1741G>T (p.Glu581Ter)
c.*109-66G>T (n.*109-66G>T)
c.955G>T (p.Glu319Ter)
c.1892G>T
c.*1046G>T (n.*1046G>T)
n.352G>T
c.1795G>T (p.Glu599Ter)
c.1591G>T (p.Glu531Ter)
c.1732G>T (p.Glu578Ter)
c.1786G>T (p.Glu596Ter)
c.1582G>T (p.Glu528Ter)
7g.75985995A>CCA367750575PORc.1517A>C (p.Glu506Ala)
c.1643A>C (p.Glu548Ala)
c.1742A>C (p.Glu581Ala)
c.*109-65A>C (n.*109-65A>C)
c.956A>C (p.Glu319Ala)
c.1893A>C
c.*1047A>C (n.*1047A>C)
n.353A>C
c.1796A>C (p.Glu599Ala)
c.1592A>C (p.Glu531Ala)
c.1733A>C (p.Glu578Ala)
c.1787A>C (p.Glu596Ala)
c.1583A>C (p.Glu528Ala)
7g.75985995A>GCA367750576PORc.1517A>G (p.Glu506Gly)
c.1643A>G (p.Glu548Gly)
c.1742A>G (p.Glu581Gly)
c.*109-65A>G (n.*109-65A>G)
c.956A>G (p.Glu319Gly)
c.1893A>G
c.*1047A>G (n.*1047A>G)
n.353A>G
c.1796A>G (p.Glu599Gly)
c.1592A>G (p.Glu531Gly)
c.1733A>G (p.Glu578Gly)
c.1787A>G (p.Glu596Gly)
c.1583A>G (p.Glu528Gly)
 gnomAD v3 gnomAD v4
7g.75985995A>TCA367750577PORc.1517A>T (p.Glu506Val)
c.1643A>T (p.Glu548Val)
c.1742A>T (p.Glu581Val)
c.*109-65A>T (n.*109-65A>T)
c.956A>T (p.Glu319Val)
c.1893A>T
c.*1047A>T (n.*1047A>T)
n.353A>T
c.1796A>T (p.Glu599Val)
c.1592A>T (p.Glu531Val)
c.1733A>T (p.Glu578Val)
c.1787A>T (p.Glu596Val)
c.1583A>T (p.Glu528Val)
7g.75985996G>ACA456331412PORc.1518G>A (p.Glu506=)
c.1644G>A (p.Glu548=)
c.1743G>A (p.Glu581=)
c.*109-64G>A (n.*109-64G>A)
c.957G>A (p.Glu319=)
c.1894G>A
c.*1048G>A (n.*1048G>A)
n.354G>A
c.1797G>A (p.Glu599=)
c.1593G>A (p.Glu531=)
c.1734G>A (p.Glu578=)
c.1788G>A (p.Glu596=)
c.1584G>A (p.Glu528=)
7g.75985996G>CCA367750578PORc.1518G>C (p.Glu506Asp)
c.1644G>C (p.Glu548Asp)
c.1743G>C (p.Glu581Asp)
c.*109-64G>C (n.*109-64G>C)
c.957G>C (p.Glu319Asp)
c.1894G>C
c.*1048G>C (n.*1048G>C)
n.354G>C
c.1797G>C (p.Glu599Asp)
c.1593G>C (p.Glu531Asp)
c.1734G>C (p.Glu578Asp)
c.1788G>C (p.Glu596Asp)
c.1584G>C (p.Glu528Asp)
7g.75985996G=CA1718180469PORc.1518G= (p.Glu506=)
c.1644G= (p.Glu548=)
c.1743G= (p.Glu581=)
c.*109-64G= (n.*109-64G=)
c.957G= (p.Glu319=)
c.1894G=
c.*1048G= (n.*1048G=)
n.354G=
c.1797G= (p.Glu599=)
c.1593G= (p.Glu531=)
c.1734G= (p.Glu578=)
c.1788G= (p.Glu596=)
c.1584G= (p.Glu528=)
7g.75985996G>TCA367750579PORc.1518G>T (p.Glu506Asp)
c.1644G>T (p.Glu548Asp)
c.1743G>T (p.Glu581Asp)
c.*109-64G>T (n.*109-64G>T)
c.957G>T (p.Glu319Asp)
c.1894G>T
c.*1048G>T (n.*1048G>T)
n.354G>T
c.1797G>T (p.Glu599Asp)
c.1593G>T (p.Glu531Asp)
c.1734G>T (p.Glu578Asp)
c.1788G>T (p.Glu596Asp)
c.1584G>T (p.Glu528Asp)
 dbSNP gnomAD v4
7g.75985997C>ACA367750581PORc.1519C>A (p.Leu507Met)
c.1645C>A (p.Leu549Met)
c.1744C>A (p.Leu582Met)
c.*109-63C>A (n.*109-63C>A)
c.958C>A (p.Leu320Met)
c.1895C>A
c.*1049C>A (n.*1049C>A)
n.355C>A
c.1798C>A (p.Leu600Met)
c.1594C>A (p.Leu532Met)
c.1735C>A (p.Leu579Met)
c.1789C>A (p.Leu597Met)
c.1585C>A (p.Leu529Met)
 gnomAD v4
7g.75985997C>GCA367750580PORc.1519C>G (p.Leu507Val)
c.1645C>G (p.Leu549Val)
c.1744C>G (p.Leu582Val)
c.*109-63C>G (n.*109-63C>G)
c.958C>G (p.Leu320Val)
c.1895C>G
c.*1049C>G (n.*1049C>G)
n.355C>G
c.1798C>G (p.Leu600Val)
c.1594C>G (p.Leu532Val)
c.1735C>G (p.Leu579Val)
c.1789C>G (p.Leu597Val)
c.1585C>G (p.Leu529Val)
7g.75985997C>TCA456331416PORc.1519C>T (p.Leu507=)
c.1645C>T (p.Leu549=)
c.1744C>T (p.Leu582=)
c.*109-63C>T (n.*109-63C>T)
c.958C>T (p.Leu320=)
c.1895C>T
c.*1049C>T (n.*1049C>T)
n.355C>T
c.1798C>T (p.Leu600=)
c.1594C>T (p.Leu532=)
c.1735C>T (p.Leu579=)
c.1789C>T (p.Leu597=)
c.1585C>T (p.Leu529=)
7g.75985998T>ACA367750582PORc.1520T>A (p.Leu507Gln)
c.1646T>A (p.Leu549Gln)
c.1745T>A (p.Leu582Gln)
c.*109-62T>A (n.*109-62T>A)
c.959T>A (p.Leu320Gln)
c.1896T>A
c.*1050T>A (n.*1050T>A)
n.356T>A
c.1799T>A (p.Leu600Gln)
c.1595T>A (p.Leu532Gln)
c.1736T>A (p.Leu579Gln)
c.1790T>A (p.Leu597Gln)
c.1586T>A (p.Leu529Gln)
7g.75985998T>CCA367750583PORc.1520T>C (p.Leu507Pro)
c.1646T>C (p.Leu549Pro)
c.1745T>C (p.Leu582Pro)
c.*109-62T>C (n.*109-62T>C)
c.959T>C (p.Leu320Pro)
c.1896T>C
c.*1050T>C (n.*1050T>C)
n.356T>C
c.1799T>C (p.Leu600Pro)
c.1595T>C (p.Leu532Pro)
c.1736T>C (p.Leu579Pro)
c.1790T>C (p.Leu597Pro)
c.1586T>C (p.Leu529Pro)
7g.75985998T>GCA367750584PORc.1520T>G (p.Leu507Arg)
c.1646T>G (p.Leu549Arg)
c.1745T>G (p.Leu582Arg)
c.*109-62T>G (n.*109-62T>G)
c.959T>G (p.Leu320Arg)
c.1896T>G
c.*1050T>G (n.*1050T>G)
n.356T>G
c.1799T>G (p.Leu600Arg)
c.1595T>G (p.Leu532Arg)
c.1736T>G (p.Leu579Arg)
c.1790T>G (p.Leu597Arg)
c.1586T>G (p.Leu529Arg)
7g.75985999G>ACA456331423PORc.1521G>A (p.Leu507=)
c.1647G>A (p.Leu549=)
c.1746G>A (p.Leu582=)
c.*109-61G>A (n.*109-61G>A)
c.960G>A (p.Leu320=)
c.1897G>A
c.*1051G>A (n.*1051G>A)
n.357G>A
c.1800G>A (p.Leu600=)
c.1596G>A (p.Leu532=)
c.1737G>A (p.Leu579=)
c.1791G>A (p.Leu597=)
c.1587G>A (p.Leu529=)
 gnomAD v4
7g.75985999G>CCA456331424PORc.1521G>C (p.Leu507=)
c.1647G>C (p.Leu549=)
c.1746G>C (p.Leu582=)
c.*109-61G>C (n.*109-61G>C)
c.960G>C (p.Leu320=)
c.1897G>C
c.*1051G>C (n.*1051G>C)
n.357G>C
c.1800G>C (p.Leu600=)
c.1596G>C (p.Leu532=)
c.1737G>C (p.Leu579=)
c.1791G>C (p.Leu597=)
c.1587G>C (p.Leu529=)
7g.75985999G>TCA456331425PORc.1521G>T (p.Leu507=)
c.1647G>T (p.Leu549=)
c.1746G>T (p.Leu582=)
c.*109-61G>T (n.*109-61G>T)
c.960G>T (p.Leu320=)
c.1897G>T
c.*1051G>T (n.*1051G>T)
n.357G>T
c.1800G>T (p.Leu600=)
c.1596G>T (p.Leu532=)
c.1737G>T (p.Leu579=)
c.1791G>T (p.Leu597=)
c.1587G>T (p.Leu529=)
 gnomAD v4
7g.75986000G>ACA367750585PORc.1522G>A (p.Ala508Thr)
c.1648G>A (p.Ala550Thr)
c.1747G>A (p.Ala583Thr)
c.*109-60G>A (n.*109-60G>A)
c.961G>A (p.Ala321Thr)
c.1898G>A
c.*1052G>A (n.*1052G>A)
n.358G>A
c.1801G>A (p.Ala601Thr)
c.1597G>A (p.Ala533Thr)
c.1738G>A (p.Ala580Thr)
c.1792G>A (p.Ala598Thr)
c.1588G>A (p.Ala530Thr)
 gnomAD v4
7g.75986000G>CCA367750586PORc.1522G>C (p.Ala508Pro)
c.1648G>C (p.Ala550Pro)
c.1747G>C (p.Ala583Pro)
c.*109-60G>C (n.*109-60G>C)
c.961G>C (p.Ala321Pro)
c.1898G>C
c.*1052G>C (n.*1052G>C)
n.358G>C
c.1801G>C (p.Ala601Pro)
c.1597G>C (p.Ala533Pro)
c.1738G>C (p.Ala580Pro)
c.1792G>C (p.Ala598Pro)
c.1588G>C (p.Ala530Pro)
 dbSNP
7g.75986000G=CA1718180470PORc.1522G= (p.Ala508=)
c.1648G= (p.Ala550=)
c.1747G= (p.Ala583=)
c.*109-60G= (n.*109-60G=)
c.961G= (p.Ala321=)
c.1898G=
c.*1052G= (n.*1052G=)
n.358G=
c.1801G= (p.Ala601=)
c.1597G= (p.Ala533=)
c.1738G= (p.Ala580=)
c.1792G= (p.Ala598=)
c.1588G= (p.Ala530=)
7g.75986000G>TCA367750587PORc.1522G>T (p.Ala508Ser)
c.1648G>T (p.Ala550Ser)
c.1747G>T (p.Ala583Ser)
c.*109-60G>T (n.*109-60G>T)
c.961G>T (p.Ala321Ser)
c.1898G>T
c.*1052G>T (n.*1052G>T)
n.358G>T
c.1801G>T (p.Ala601Ser)
c.1597G>T (p.Ala533Ser)
c.1738G>T (p.Ala580Ser)
c.1792G>T (p.Ala598Ser)
c.1588G>T (p.Ala530Ser)
 gnomAD v4
7g.75986001C>ACA367750588PORc.1523C>A (p.Ala508Glu)
c.1649C>A (p.Ala550Glu)
c.1748C>A (p.Ala583Glu)
c.*109-59C>A (n.*109-59C>A)
c.962C>A (p.Ala321Glu)
c.1899C>A
c.*1053C>A (n.*1053C>A)
n.359C>A
c.1802C>A (p.Ala601Glu)
c.1598C>A (p.Ala533Glu)
c.1739C>A (p.Ala580Glu)
c.1793C>A (p.Ala598Glu)
c.1589C>A (p.Ala530Glu)
 gnomAD v4
7g.75986001C=CA1718180471PORc.1523C= (p.Ala508=)
c.1649C= (p.Ala550=)
c.1748C= (p.Ala583=)
c.*109-59C= (n.*109-59C=)
c.962C= (p.Ala321=)
c.1899C=
c.*1053C= (n.*1053C=)
n.359C=
c.1802C= (p.Ala601=)
c.1598C= (p.Ala533=)
c.1739C= (p.Ala580=)
c.1793C= (p.Ala598=)
c.1589C= (p.Ala530=)
7g.75986001C>GCA367750589PORc.1523C>G (p.Ala508Gly)
c.1649C>G (p.Ala550Gly)
c.1748C>G (p.Ala583Gly)
c.*109-59C>G (n.*109-59C>G)
c.962C>G (p.Ala321Gly)
c.1899C>G
c.*1053C>G (n.*1053C>G)
n.359C>G
c.1802C>G (p.Ala601Gly)
c.1598C>G (p.Ala533Gly)
c.1739C>G (p.Ala580Gly)
c.1793C>G (p.Ala598Gly)
c.1589C>G (p.Ala530Gly)
7g.75986001C>TCA367750590PORc.1523C>T (p.Ala508Val)
c.1649C>T (p.Ala550Val)
c.1748C>T (p.Ala583Val)
c.*109-59C>T (n.*109-59C>T)
c.962C>T (p.Ala321Val)
c.1899C>T
c.*1053C>T (n.*1053C>T)
n.359C>T
c.1802C>T (p.Ala601Val)
c.1598C>T (p.Ala533Val)
c.1739C>T (p.Ala580Val)
c.1793C>T (p.Ala598Val)
c.1589C>T (p.Ala530Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75986002G>ACA4304268PORc.1524G>A (p.Ala508=)
c.1650G>A (p.Ala550=)
c.1749G>A (p.Ala583=)
c.*109-58G>A (n.*109-58G>A)
c.963G>A (p.Ala321=)
c.1900G>A
c.*1054G>A (n.*1054G>A)
n.360G>A
c.1803G>A (p.Ala601=)
c.1599G>A (p.Ala533=)
c.1740G>A (p.Ala580=)
c.1794G>A (p.Ala598=)
c.1590G>A (p.Ala530=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.75986002G>CCA456331427PORc.1524G>C (p.Ala508=)
c.1650G>C (p.Ala550=)
c.1749G>C (p.Ala583=)
c.*109-58G>C (n.*109-58G>C)
c.963G>C (p.Ala321=)
c.1900G>C
c.*1054G>C (n.*1054G>C)
n.360G>C
c.1803G>C (p.Ala601=)
c.1599G>C (p.Ala533=)
c.1740G>C (p.Ala580=)
c.1794G>C (p.Ala598=)
c.1590G>C (p.Ala530=)
7g.75986002G=CA1718180472PORc.1524G= (p.Ala508=)
c.1650G= (p.Ala550=)
c.1749G= (p.Ala583=)
c.*109-58G= (n.*109-58G=)
c.963G= (p.Ala321=)
c.1900G=
c.*1054G= (n.*1054G=)
n.360G=
c.1803G= (p.Ala601=)
c.1599G= (p.Ala533=)
c.1740G= (p.Ala580=)
c.1794G= (p.Ala598=)
c.1590G= (p.Ala530=)
7g.75986002G>TCA456331429PORc.1524G>T (p.Ala508=)
c.1650G>T (p.Ala550=)
c.1749G>T (p.Ala583=)
c.*109-58G>T (n.*109-58G>T)
c.963G>T (p.Ala321=)
c.1900G>T
c.*1054G>T (n.*1054G>T)
n.360G>T
c.1803G>T (p.Ala601=)
c.1599G>T (p.Ala533=)
c.1740G>T (p.Ala580=)
c.1794G>T (p.Ala598=)
c.1590G>T (p.Ala530=)
7g.75986002_75986029delinsGCAGTTCCACAGGGACGGTGCGCTCACCCA1718180473PORc.1524_1551delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala508=)
c.1650_1677delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala550=)
c.1749_1776delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala583=)
c.*109-58_*109-31delinsGCAGTTCCACAGGGACGGTGCGCTCACC (n.*109-58_*109-31delinsGCAGTTCCACAGGGACGGTGCGCTCACC)
c.963_990delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala321=)
c.1900_1927delinsGCAGTTCCACAGGGACGGTGCGCTCACC
c.*1054_*1081delinsGCAGTTCCACAGGGACGGTGCGCTCACC (n.*1054_*1081delinsGCAGTTCCACAGGGACGGTGCGCTCACC)
n.360_387delinsGCAGTTCCACAGGGACGGTGCGCTCACC
c.1803_1830delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala601=)
c.1599_1626delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala533=)
c.1740_1767delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala580=)
c.1794_1821delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala598=)
c.1590_1617delinsGCAGTTCCACAGGGACGGTGCGCTCACC (p.Ala530=)
7g.75986003C>ACA367750591PORc.1525C>A (p.Gln509Lys)
c.1651C>A (p.Gln551Lys)
c.1750C>A (p.Gln584Lys)
c.*109-57C>A (n.*109-57C>A)
c.964C>A (p.Gln322Lys)
c.1901C>A
c.*1055C>A (n.*1055C>A)
n.361C>A
c.1804C>A (p.Gln602Lys)
c.1600C>A (p.Gln534Lys)
c.1741C>A (p.Gln581Lys)
c.1795C>A (p.Gln599Lys)
c.1591C>A (p.Gln531Lys)
7g.75986003C>GCA367750592PORc.1525C>G (p.Gln509Glu)
c.1651C>G (p.Gln551Glu)
c.1750C>G (p.Gln584Glu)
c.*109-57C>G (n.*109-57C>G)
c.964C>G (p.Gln322Glu)
c.1901C>G
c.*1055C>G (n.*1055C>G)
n.361C>G
c.1804C>G (p.Gln602Glu)
c.1600C>G (p.Gln534Glu)
c.1741C>G (p.Gln581Glu)
c.1795C>G (p.Gln599Glu)
c.1591C>G (p.Gln531Glu)
7g.75986003C>TCA367750593PORc.1525C>T (p.Gln509Ter)
c.1651C>T (p.Gln551Ter)
c.1750C>T (p.Gln584Ter)
c.*109-57C>T (n.*109-57C>T)
c.964C>T (p.Gln322Ter)
c.1901C>T
c.*1055C>T (n.*1055C>T)
n.361C>T
c.1804C>T (p.Gln602Ter)
c.1600C>T (p.Gln534Ter)
c.1741C>T (p.Gln581Ter)
c.1795C>T (p.Gln599Ter)
c.1591C>T (p.Gln531Ter)
7g.75986006_75986032delCA575786104PORc.1528_1554del (p.Phe510_Gln518del)
c.1654_1680del (p.Phe552_Gln560del)
c.1753_1779del (p.Phe585_Gln593del)
c.*109-54_*109-28del (n.*109-54_*109-28del)
c.967_993del (p.Phe323_Gln331del)
c.1904_1930del
c.*1058_*1084del (n.*1058_*1084del)
n.364_390del
c.1807_1833del (p.Phe603_Gln611del)
c.1603_1629del (p.Phe535_Gln543del)
c.1744_1770del (p.Phe582_Gln590del)
c.1798_1824del (p.Phe600_Gln608del)
c.1594_1620del (p.Phe532_Gln540del)
 dbSNP gnomAD v2
7g.75986004A>CCA367750596PORc.1526A>C (p.Gln509Pro)
c.1652A>C (p.Gln551Pro)
c.1751A>C (p.Gln584Pro)
c.*109-56A>C (n.*109-56A>C)
c.965A>C (p.Gln322Pro)
c.1902A>C
c.*1056A>C (n.*1056A>C)
n.362A>C
c.1805A>C (p.Gln602Pro)
c.1601A>C (p.Gln534Pro)
c.1742A>C (p.Gln581Pro)
c.1796A>C (p.Gln599Pro)
c.1592A>C (p.Gln531Pro)
7g.75986004A>GCA367750594PORc.1526A>G (p.Gln509Arg)
c.1652A>G (p.Gln551Arg)
c.1751A>G (p.Gln584Arg)
c.*109-56A>G (n.*109-56A>G)
c.965A>G (p.Gln322Arg)
c.1902A>G
c.*1056A>G (n.*1056A>G)
n.362A>G
c.1805A>G (p.Gln602Arg)
c.1601A>G (p.Gln534Arg)
c.1742A>G (p.Gln581Arg)
c.1796A>G (p.Gln599Arg)
c.1592A>G (p.Gln531Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.75986004A>TCA367750595PORc.1526A>T (p.Gln509Leu)
c.1652A>T (p.Gln551Leu)
c.1751A>T (p.Gln584Leu)
c.*109-56A>T (n.*109-56A>T)
c.965A>T (p.Gln322Leu)
c.1902A>T
c.*1056A>T (n.*1056A>T)
n.362A>T
c.1805A>T (p.Gln602Leu)
c.1601A>T (p.Gln534Leu)
c.1742A>T (p.Gln581Leu)
c.1796A>T (p.Gln599Leu)
c.1592A>T (p.Gln531Leu)
7g.75986005G>ACA456331431PORc.1527G>A (p.Gln509=)
c.1653G>A (p.Gln551=)
c.1752G>A (p.Gln584=)
c.*109-55G>A (n.*109-55G>A)
c.966G>A (p.Gln322=)
c.1903G>A
c.*1057G>A (n.*1057G>A)
n.363G>A
c.1806G>A (p.Gln602=)
c.1602G>A (p.Gln534=)
c.1743G>A (p.Gln581=)
c.1797G>A (p.Gln599=)
c.1593G>A (p.Gln531=)
 gnomAD v4
7g.75986005G>CCA367750597PORc.1527G>C (p.Gln509His)
c.1653G>C (p.Gln551His)
c.1752G>C (p.Gln584His)
c.*109-55G>C (n.*109-55G>C)
c.966G>C (p.Gln322His)
c.1903G>C
c.*1057G>C (n.*1057G>C)
n.363G>C
c.1806G>C (p.Gln602His)
c.1602G>C (p.Gln534His)
c.1743G>C (p.Gln581His)
c.1797G>C (p.Gln599His)
c.1593G>C (p.Gln531His)
7g.75986005G>TCA367750598PORc.1527G>T (p.Gln509His)
c.1653G>T (p.Gln551His)
c.1752G>T (p.Gln584His)
c.*109-55G>T (n.*109-55G>T)
c.966G>T (p.Gln322His)
c.1903G>T
c.*1057G>T (n.*1057G>T)
n.363G>T
c.1806G>T (p.Gln602His)
c.1602G>T (p.Gln534His)
c.1743G>T (p.Gln581His)
c.1797G>T (p.Gln599His)
c.1593G>T (p.Gln531His)
7g.75986006T>ACA367750599PORc.1528T>A (p.Phe510Ile)
c.1654T>A (p.Phe552Ile)
c.1753T>A (p.Phe585Ile)
c.*109-54T>A (n.*109-54T>A)
c.967T>A (p.Phe323Ile)
c.1904T>A
c.*1058T>A (n.*1058T>A)
n.364T>A
c.1807T>A (p.Phe603Ile)
c.1603T>A (p.Phe535Ile)
c.1744T>A (p.Phe582Ile)
c.1798T>A (p.Phe600Ile)
c.1594T>A (p.Phe532Ile)
7g.75986006T>CCA367750600PORc.1528T>C (p.Phe510Leu)
c.1654T>C (p.Phe552Leu)
c.1753T>C (p.Phe585Leu)
c.*109-54T>C (n.*109-54T>C)
c.967T>C (p.Phe323Leu)
c.1904T>C
c.*1058T>C (n.*1058T>C)
n.364T>C
c.1807T>C (p.Phe603Leu)
c.1603T>C (p.Phe535Leu)
c.1744T>C (p.Phe582Leu)
c.1798T>C (p.Phe600Leu)
c.1594T>C (p.Phe532Leu)
 dbSNP gnomAD v3 gnomAD v4
7g.75986006T>GCA367750601PORc.1528T>G (p.Phe510Val)
c.1654T>G (p.Phe552Val)
c.1753T>G (p.Phe585Val)
c.*109-54T>G (n.*109-54T>G)
c.967T>G (p.Phe323Val)
c.1904T>G
c.*1058T>G (n.*1058T>G)
n.364T>G
c.1807T>G (p.Phe603Val)
c.1603T>G (p.Phe535Val)
c.1744T>G (p.Phe582Val)
c.1798T>G (p.Phe600Val)
c.1594T>G (p.Phe532Val)
7g.75986006T=CA1718180474PORc.1528T= (p.Phe510=)
c.1654T= (p.Phe552=)
c.1753T= (p.Phe585=)
c.*109-54T= (n.*109-54T=)
c.967T= (p.Phe323=)
c.1904T=
c.*1058T= (n.*1058T=)
n.364T=
c.1807T= (p.Phe603=)
c.1603T= (p.Phe535=)
c.1744T= (p.Phe582=)
c.1798T= (p.Phe600=)
c.1594T= (p.Phe532=)
7g.75986007T>ACA367750602PORc.1529T>A (p.Phe510Tyr)
c.1655T>A (p.Phe552Tyr)
c.1754T>A (p.Phe585Tyr)
c.*109-53T>A (n.*109-53T>A)
c.968T>A (p.Phe323Tyr)
c.1905T>A
c.*1059T>A (n.*1059T>A)
n.365T>A
c.1808T>A (p.Phe603Tyr)
c.1604T>A (p.Phe535Tyr)
c.1745T>A (p.Phe582Tyr)
c.1799T>A (p.Phe600Tyr)
c.1595T>A (p.Phe532Tyr)
7g.75986007T>CCA367750603PORc.1529T>C (p.Phe510Ser)
c.1655T>C (p.Phe552Ser)
c.1754T>C (p.Phe585Ser)
c.*109-53T>C (n.*109-53T>C)
c.968T>C (p.Phe323Ser)
c.1905T>C
c.*1059T>C (n.*1059T>C)
n.365T>C
c.1808T>C (p.Phe603Ser)
c.1604T>C (p.Phe535Ser)
c.1745T>C (p.Phe582Ser)
c.1799T>C (p.Phe600Ser)
c.1595T>C (p.Phe532Ser)
 gnomAD v4
7g.75986007T>GCA367750604PORc.1529T>G (p.Phe510Cys)
c.1655T>G (p.Phe552Cys)
c.1754T>G (p.Phe585Cys)
c.*109-53T>G (n.*109-53T>G)
c.968T>G (p.Phe323Cys)
c.1905T>G
c.*1059T>G (n.*1059T>G)
n.365T>G
c.1808T>G (p.Phe603Cys)
c.1604T>G (p.Phe535Cys)
c.1745T>G (p.Phe582Cys)
c.1799T>G (p.Phe600Cys)
c.1595T>G (p.Phe532Cys)
7g.75986008C>ACA367750605PORc.1530C>A (p.Phe510Leu)
c.1656C>A (p.Phe552Leu)
c.1755C>A (p.Phe585Leu)
c.*109-52C>A (n.*109-52C>A)
c.969C>A (p.Phe323Leu)
c.1906C>A
c.*1060C>A (n.*1060C>A)
n.366C>A
c.1809C>A (p.Phe603Leu)
c.1605C>A (p.Phe535Leu)
c.1746C>A (p.Phe582Leu)
c.1800C>A (p.Phe600Leu)
c.1596C>A (p.Phe532Leu)
7g.75986008C>GCA367750606PORc.1530C>G (p.Phe510Leu)
c.1656C>G (p.Phe552Leu)
c.1755C>G (p.Phe585Leu)
c.*109-52C>G (n.*109-52C>G)
c.969C>G (p.Phe323Leu)
c.1906C>G
c.*1060C>G (n.*1060C>G)
n.366C>G
c.1809C>G (p.Phe603Leu)
c.1605C>G (p.Phe535Leu)
c.1746C>G (p.Phe582Leu)
c.1800C>G (p.Phe600Leu)
c.1596C>G (p.Phe532Leu)
 gnomAD v4
7g.75986008C>TCA456331437PORc.1530C>T (p.Phe510=)
c.1656C>T (p.Phe552=)
c.1755C>T (p.Phe585=)
c.*109-52C>T (n.*109-52C>T)
c.969C>T (p.Phe323=)
c.1906C>T
c.*1060C>T (n.*1060C>T)
n.366C>T
c.1809C>T (p.Phe603=)
c.1605C>T (p.Phe535=)
c.1746C>T (p.Phe582=)
c.1800C>T (p.Phe600=)
c.1596C>T (p.Phe532=)
 gnomAD v4
7g.75986009C>ACA367750607PORc.1531C>A (p.His511Asn)
c.1657C>A (p.His553Asn)
c.1756C>A (p.His586Asn)
c.*109-51C>A (n.*109-51C>A)
c.970C>A (p.His324Asn)
c.1907C>A
c.*1061C>A (n.*1061C>A)
n.367C>A
c.1810C>A (p.His604Asn)
c.1606C>A (p.His536Asn)
c.1747C>A (p.His583Asn)
c.1801C>A (p.His601Asn)
c.1597C>A (p.His533Asn)
7g.75986009C>GCA367750608PORc.1531C>G (p.His511Asp)
c.1657C>G (p.His553Asp)
c.1756C>G (p.His586Asp)
c.*109-51C>G (n.*109-51C>G)
c.970C>G (p.His324Asp)
c.1907C>G
c.*1061C>G (n.*1061C>G)
n.367C>G
c.1810C>G (p.His604Asp)
c.1606C>G (p.His536Asp)
c.1747C>G (p.His583Asp)
c.1801C>G (p.His601Asp)
c.1597C>G (p.His533Asp)
7g.75986009C>TCA367750609PORc.1531C>T (p.His511Tyr)
c.1657C>T (p.His553Tyr)
c.1756C>T (p.His586Tyr)
c.*109-51C>T (n.*109-51C>T)
c.970C>T (p.His324Tyr)
c.1907C>T
c.*1061C>T (n.*1061C>T)
n.367C>T
c.1810C>T (p.His604Tyr)
c.1606C>T (p.His536Tyr)
c.1747C>T (p.His583Tyr)
c.1801C>T (p.His601Tyr)
c.1597C>T (p.His533Tyr)
7g.75986010A>CCA367750612PORc.1532A>C (p.His511Pro)
c.1658A>C (p.His553Pro)
c.1757A>C (p.His586Pro)
c.*109-50A>C (n.*109-50A>C)
c.971A>C (p.His324Pro)
c.1908A>C
c.*1062A>C (n.*1062A>C)
n.368A>C
c.1811A>C (p.His604Pro)
c.1607A>C (p.His536Pro)
c.1748A>C (p.His583Pro)
c.1802A>C (p.His601Pro)
c.1598A>C (p.His533Pro)
7g.75986010A>GCA367750611PORc.1532A>G (p.His511Arg)
c.1658A>G (p.His553Arg)
c.1757A>G (p.His586Arg)
c.*109-50A>G (n.*109-50A>G)
c.971A>G (p.His324Arg)
c.1908A>G
c.*1062A>G (n.*1062A>G)
n.368A>G
c.1811A>G (p.His604Arg)
c.1607A>G (p.His536Arg)
c.1748A>G (p.His583Arg)
c.1802A>G (p.His601Arg)
c.1598A>G (p.His533Arg)
 gnomAD v4
7g.75986010A>TCA367750610PORc.1532A>T (p.His511Leu)
c.1658A>T (p.His553Leu)
c.1757A>T (p.His586Leu)
c.*109-50A>T (n.*109-50A>T)
c.971A>T (p.His324Leu)
c.1908A>T
c.*1062A>T (n.*1062A>T)
n.368A>T
c.1811A>T (p.His604Leu)
c.1607A>T (p.His536Leu)
c.1748A>T (p.His583Leu)
c.1802A>T (p.His601Leu)
c.1598A>T (p.His533Leu)
7g.75986011C>ACA367750613PORc.1533C>A (p.His511Gln)
c.1659C>A (p.His553Gln)
c.1758C>A (p.His586Gln)
c.*109-49C>A (n.*109-49C>A)
c.972C>A (p.His324Gln)
c.1909C>A
c.*1063C>A (n.*1063C>A)
n.369C>A
c.1812C>A (p.His604Gln)
c.1608C>A (p.His536Gln)
c.1749C>A (p.His583Gln)
c.1803C>A (p.His601Gln)
c.1599C>A (p.His533Gln)
7g.75986011C=CA1718180475PORc.1533C= (p.His511=)
c.1659C= (p.His553=)
c.1758C= (p.His586=)
c.*109-49C= (n.*109-49C=)
c.972C= (p.His324=)
c.1909C=
c.*1063C= (n.*1063C=)
n.369C=
c.1812C= (p.His604=)
c.1608C= (p.His536=)
c.1749C= (p.His583=)
c.1803C= (p.His601=)
c.1599C= (p.His533=)
7g.75986011C>GCA367750614PORc.1533C>G (p.His511Gln)
c.1659C>G (p.His553Gln)
c.1758C>G (p.His586Gln)
c.*109-49C>G (n.*109-49C>G)
c.972C>G (p.His324Gln)
c.1909C>G
c.*1063C>G (n.*1063C>G)
n.369C>G
c.1812C>G (p.His604Gln)
c.1608C>G (p.His536Gln)
c.1749C>G (p.His583Gln)
c.1803C>G (p.His601Gln)
c.1599C>G (p.His533Gln)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC
7g.75986011C>TCA456331441PORc.1533C>T (p.His511=)
c.1659C>T (p.His553=)
c.1758C>T (p.His586=)
c.*109-49C>T (n.*109-49C>T)
c.972C>T (p.His324=)
c.1909C>T
c.*1063C>T (n.*1063C>T)
n.369C>T
c.1812C>T (p.His604=)
c.1608C>T (p.His536=)
c.1749C>T (p.His583=)
c.1803C>T (p.His601=)
c.1599C>T (p.His533=)
7g.75986012A=CA1718180476PORc.1534A= (p.Arg512=)
c.1660A= (p.Arg554=)
c.1759A= (p.Arg587=)
c.*109-48A= (n.*109-48A=)
c.973A= (p.Arg325=)
c.1910A=
c.*1064A= (n.*1064A=)
n.370A=
c.1813A= (p.Arg605=)
c.1609A= (p.Arg537=)
c.1750A= (p.Arg584=)
c.1804A= (p.Arg602=)
c.1600A= (p.Arg534=)
7g.75986012A>CCA456331442PORc.1534A>C (p.Arg512=)
c.1660A>C (p.Arg554=)
c.1759A>C (p.Arg587=)
c.*109-48A>C (n.*109-48A>C)
c.973A>C (p.Arg325=)
c.1910A>C
c.*1064A>C (n.*1064A>C)
n.370A>C
c.1813A>C (p.Arg605=)
c.1609A>C (p.Arg537=)
c.1750A>C (p.Arg584=)
c.1804A>C (p.Arg602=)
c.1600A>C (p.Arg534=)
7g.75986012A>GCA4304269PORc.1534A>G (p.Arg512Gly)
c.1660A>G (p.Arg554Gly)
c.1759A>G (p.Arg587Gly)
c.*109-48A>G (n.*109-48A>G)
c.973A>G (p.Arg325Gly)
c.1910A>G
c.*1064A>G (n.*1064A>G)
n.370A>G
c.1813A>G (p.Arg605Gly)
c.1609A>G (p.Arg537Gly)
c.1750A>G (p.Arg584Gly)
c.1804A>G (p.Arg602Gly)
c.1600A>G (p.Arg534Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986012A>TCA367750615PORc.1534A>T (p.Arg512Trp)
c.1660A>T (p.Arg554Trp)
c.1759A>T (p.Arg587Trp)
c.*109-48A>T (n.*109-48A>T)
c.973A>T (p.Arg325Trp)
c.1910A>T
c.*1064A>T (n.*1064A>T)
n.370A>T
c.1813A>T (p.Arg605Trp)
c.1609A>T (p.Arg537Trp)
c.1750A>T (p.Arg584Trp)
c.1804A>T (p.Arg602Trp)
c.1600A>T (p.Arg534Trp)
7g.75986013G>ACA367750616PORc.1535G>A (p.Arg512Lys)
c.1661G>A (p.Arg554Lys)
c.1760G>A (p.Arg587Lys)
c.*109-47G>A (n.*109-47G>A)
c.974G>A (p.Arg325Lys)
c.1911G>A
c.*1065G>A (n.*1065G>A)
n.371G>A
c.1814G>A (p.Arg605Lys)
c.1610G>A (p.Arg537Lys)
c.1751G>A (p.Arg584Lys)
c.1805G>A (p.Arg602Lys)
c.1601G>A (p.Arg534Lys)
7g.75986013G>CCA367750617PORc.1535G>C (p.Arg512Thr)
c.1661G>C (p.Arg554Thr)
c.1760G>C (p.Arg587Thr)
c.*109-47G>C (n.*109-47G>C)
c.974G>C (p.Arg325Thr)
c.1911G>C
c.*1065G>C (n.*1065G>C)
n.371G>C
c.1814G>C (p.Arg605Thr)
c.1610G>C (p.Arg537Thr)
c.1751G>C (p.Arg584Thr)
c.1805G>C (p.Arg602Thr)
c.1601G>C (p.Arg534Thr)
7g.75986013G>TCA367750618PORc.1535G>T (p.Arg512Met)
c.1661G>T (p.Arg554Met)
c.1760G>T (p.Arg587Met)
c.*109-47G>T (n.*109-47G>T)
c.974G>T (p.Arg325Met)
c.1911G>T
c.*1065G>T (n.*1065G>T)
n.371G>T
c.1814G>T (p.Arg605Met)
c.1610G>T (p.Arg537Met)
c.1751G>T (p.Arg584Met)
c.1805G>T (p.Arg602Met)
c.1601G>T (p.Arg534Met)
 gnomAD v4
7g.75986014G>ACA4304270PORc.1536G>A (p.Arg512=)
c.1662G>A (p.Arg554=)
c.1761G>A (p.Arg587=)
c.*109-46G>A (n.*109-46G>A)
c.975G>A (p.Arg325=)
c.1912G>A
c.*1066G>A (n.*1066G>A)
n.372G>A
c.1815G>A (p.Arg605=)
c.1611G>A (p.Arg537=)
c.1752G>A (p.Arg584=)
c.1806G>A (p.Arg602=)
c.1602G>A (p.Arg534=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986014G>CCA367750619PORc.1536G>C (p.Arg512Ser)
c.1662G>C (p.Arg554Ser)
c.1761G>C (p.Arg587Ser)
c.*109-46G>C (n.*109-46G>C)
c.975G>C (p.Arg325Ser)
c.1912G>C
c.*1066G>C (n.*1066G>C)
n.372G>C
c.1815G>C (p.Arg605Ser)
c.1611G>C (p.Arg537Ser)
c.1752G>C (p.Arg584Ser)
c.1806G>C (p.Arg602Ser)
c.1602G>C (p.Arg534Ser)
7g.75986014G=CA1718180477PORc.1536G= (p.Arg512=)
c.1662G= (p.Arg554=)
c.1761G= (p.Arg587=)
c.*109-46G= (n.*109-46G=)
c.975G= (p.Arg325=)
c.1912G=
c.*1066G= (n.*1066G=)
n.372G=
c.1815G= (p.Arg605=)
c.1611G= (p.Arg537=)
c.1752G= (p.Arg584=)
c.1806G= (p.Arg602=)
c.1602G= (p.Arg534=)
7g.75986014G>TCA367750620PORc.1536G>T (p.Arg512Ser)
c.1662G>T (p.Arg554Ser)
c.1761G>T (p.Arg587Ser)
c.*109-46G>T (n.*109-46G>T)
c.975G>T (p.Arg325Ser)
c.1912G>T
c.*1066G>T (n.*1066G>T)
n.372G>T
c.1815G>T (p.Arg605Ser)
c.1611G>T (p.Arg537Ser)
c.1752G>T (p.Arg584Ser)
c.1806G>T (p.Arg602Ser)
c.1602G>T (p.Arg534Ser)
 gnomAD v4
7g.75986015G>ACA367750621PORc.1537G>A (p.Asp513Asn)
c.1663G>A (p.Asp555Asn)
c.1762G>A (p.Asp588Asn)
c.*109-45G>A (n.*109-45G>A)
c.976G>A (p.Asp326Asn)
c.1913G>A
c.*1067G>A (n.*1067G>A)
n.373G>A
c.1816G>A (p.Asp606Asn)
c.1612G>A (p.Asp538Asn)
c.1753G>A (p.Asp585Asn)
c.1807G>A (p.Asp603Asn)
c.1603G>A (p.Asp535Asn)
 dbSNP gnomAD v3 gnomAD v4
7g.75986015G>CCA367750622PORc.1537G>C (p.Asp513His)
c.1663G>C (p.Asp555His)
c.1762G>C (p.Asp588His)
c.*109-45G>C (n.*109-45G>C)
c.976G>C (p.Asp326His)
c.1913G>C
c.*1067G>C (n.*1067G>C)
n.373G>C
c.1816G>C (p.Asp606His)
c.1612G>C (p.Asp538His)
c.1753G>C (p.Asp585His)
c.1807G>C (p.Asp603His)
c.1603G>C (p.Asp535His)
7g.75986015G=CA1718180478PORc.1537G= (p.Asp513=)
c.1663G= (p.Asp555=)
c.1762G= (p.Asp588=)
c.*109-45G= (n.*109-45G=)
c.976G= (p.Asp326=)
c.1913G=
c.*1067G= (n.*1067G=)
n.373G=
c.1816G= (p.Asp606=)
c.1612G= (p.Asp538=)
c.1753G= (p.Asp585=)
c.1807G= (p.Asp603=)
c.1603G= (p.Asp535=)
7g.75986015G>TCA367750623PORc.1537G>T (p.Asp513Tyr)
c.1663G>T (p.Asp555Tyr)
c.1762G>T (p.Asp588Tyr)
c.*109-45G>T (n.*109-45G>T)
c.976G>T (p.Asp326Tyr)
c.1913G>T
c.*1067G>T (n.*1067G>T)
n.373G>T
c.1816G>T (p.Asp606Tyr)
c.1612G>T (p.Asp538Tyr)
c.1753G>T (p.Asp585Tyr)
c.1807G>T (p.Asp603Tyr)
c.1603G>T (p.Asp535Tyr)
 gnomAD v4
7g.75986016A=CA1718180479PORc.1538A= (p.Asp513=)
c.1664A= (p.Asp555=)
c.1763A= (p.Asp588=)
c.*109-44A= (n.*109-44A=)
c.977A= (p.Asp326=)
c.1914A=
c.*1068A= (n.*1068A=)
n.374A=
c.1817A= (p.Asp606=)
c.1613A= (p.Asp538=)
c.1754A= (p.Asp585=)
c.1808A= (p.Asp603=)
c.1604A= (p.Asp535=)
7g.75986016A>CCA367750624PORc.1538A>C (p.Asp513Ala)
c.1664A>C (p.Asp555Ala)
c.1763A>C (p.Asp588Ala)
c.*109-44A>C (n.*109-44A>C)
c.977A>C (p.Asp326Ala)
c.1914A>C
c.*1068A>C (n.*1068A>C)
n.374A>C
c.1817A>C (p.Asp606Ala)
c.1613A>C (p.Asp538Ala)
c.1754A>C (p.Asp585Ala)
c.1808A>C (p.Asp603Ala)
c.1604A>C (p.Asp535Ala)
7g.75986016A>GCA367750625PORc.1538A>G (p.Asp513Gly)
c.1664A>G (p.Asp555Gly)
c.1763A>G (p.Asp588Gly)
c.*109-44A>G (n.*109-44A>G)
c.977A>G (p.Asp326Gly)
c.1914A>G
c.*1068A>G (n.*1068A>G)
n.374A>G
c.1817A>G (p.Asp606Gly)
c.1613A>G (p.Asp538Gly)
c.1754A>G (p.Asp585Gly)
c.1808A>G (p.Asp603Gly)
c.1604A>G (p.Asp535Gly)
 dbSNP
7g.75986016A>TCA367750626PORc.1538A>T (p.Asp513Val)
c.1664A>T (p.Asp555Val)
c.1763A>T (p.Asp588Val)
c.*109-44A>T (n.*109-44A>T)
c.977A>T (p.Asp326Val)
c.1914A>T
c.*1068A>T (n.*1068A>T)
n.374A>T
c.1817A>T (p.Asp606Val)
c.1613A>T (p.Asp538Val)
c.1754A>T (p.Asp585Val)
c.1808A>T (p.Asp603Val)
c.1604A>T (p.Asp535Val)
7g.75986017C>ACA367750628PORc.1539C>A (p.Asp513Glu)
c.1665C>A (p.Asp555Glu)
c.1764C>A (p.Asp588Glu)
c.*109-43C>A (n.*109-43C>A)
c.978C>A (p.Asp326Glu)
c.1915C>A
c.*1069C>A (n.*1069C>A)
n.375C>A
c.1818C>A (p.Asp606Glu)
c.1614C>A (p.Asp538Glu)
c.1755C>A (p.Asp585Glu)
c.1809C>A (p.Asp603Glu)
c.1605C>A (p.Asp535Glu)
7g.75986017C=CA1718180480PORc.1539C= (p.Asp513=)
c.1665C= (p.Asp555=)
c.1764C= (p.Asp588=)
c.*109-43C= (n.*109-43C=)
c.978C= (p.Asp326=)
c.1915C=
c.*1069C= (n.*1069C=)
n.375C=
c.1818C= (p.Asp606=)
c.1614C= (p.Asp538=)
c.1755C= (p.Asp585=)
c.1809C= (p.Asp603=)
c.1605C= (p.Asp535=)
7g.75986017C>GCA367750627PORc.1539C>G (p.Asp513Glu)
c.1665C>G (p.Asp555Glu)
c.1764C>G (p.Asp588Glu)
c.*109-43C>G (n.*109-43C>G)
c.978C>G (p.Asp326Glu)
c.1915C>G
c.*1069C>G (n.*1069C>G)
n.375C>G
c.1818C>G (p.Asp606Glu)
c.1614C>G (p.Asp538Glu)
c.1755C>G (p.Asp585Glu)
c.1809C>G (p.Asp603Glu)
c.1605C>G (p.Asp535Glu)
7g.75986017C>TCA4304271PORc.1539C>T (p.Asp513=)
c.1665C>T (p.Asp555=)
c.1764C>T (p.Asp588=)
c.*109-43C>T (n.*109-43C>T)
c.978C>T (p.Asp326=)
c.1915C>T
c.*1069C>T (n.*1069C>T)
n.375C>T
c.1818C>T (p.Asp606=)
c.1614C>T (p.Asp538=)
c.1755C>T (p.Asp585=)
c.1809C>T (p.Asp603=)
c.1605C>T (p.Asp535=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986018G>ACA4304272PORc.1540G>A (p.Gly514Ser)
c.1666G>A (p.Gly556Ser)
c.1765G>A (p.Gly589Ser)
c.*109-42G>A (n.*109-42G>A)
c.979G>A (p.Gly327Ser)
c.1916G>A
c.*1070G>A (n.*1070G>A)
n.376G>A
c.1819G>A (p.Gly607Ser)
c.1615G>A (p.Gly539Ser)
c.1756G>A (p.Gly586Ser)
c.1810G>A (p.Gly604Ser)
c.1606G>A (p.Gly536Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986018G>CCA367750629PORc.1540G>C (p.Gly514Arg)
c.1666G>C (p.Gly556Arg)
c.1765G>C (p.Gly589Arg)
c.*109-42G>C (n.*109-42G>C)
c.979G>C (p.Gly327Arg)
c.1916G>C
c.*1070G>C (n.*1070G>C)
n.376G>C
c.1819G>C (p.Gly607Arg)
c.1615G>C (p.Gly539Arg)
c.1756G>C (p.Gly586Arg)
c.1810G>C (p.Gly604Arg)
c.1606G>C (p.Gly536Arg)
7g.75986018G=CA1718180481PORc.1540G= (p.Gly514=)
c.1666G= (p.Gly556=)
c.1765G= (p.Gly589=)
c.*109-42G= (n.*109-42G=)
c.979G= (p.Gly327=)
c.1916G=
c.*1070G= (n.*1070G=)
n.376G=
c.1819G= (p.Gly607=)
c.1615G= (p.Gly539=)
c.1756G= (p.Gly586=)
c.1810G= (p.Gly604=)
c.1606G= (p.Gly536=)
7g.75986018G>TCA367750630PORc.1540G>T (p.Gly514Cys)
c.1666G>T (p.Gly556Cys)
c.1765G>T (p.Gly589Cys)
c.*109-42G>T (n.*109-42G>T)
c.979G>T (p.Gly327Cys)
c.1916G>T
c.*1070G>T (n.*1070G>T)
n.376G>T
c.1819G>T (p.Gly607Cys)
c.1615G>T (p.Gly539Cys)
c.1756G>T (p.Gly586Cys)
c.1810G>T (p.Gly604Cys)
c.1606G>T (p.Gly536Cys)
7g.75986019G>ACA367750631PORc.1541G>A (p.Gly514Asp)
c.1667G>A (p.Gly556Asp)
c.1766G>A (p.Gly589Asp)
c.*109-41G>A (n.*109-41G>A)
c.980G>A (p.Gly327Asp)
c.1917G>A
c.*1071G>A (n.*1071G>A)
n.377G>A
c.1820G>A (p.Gly607Asp)
c.1616G>A (p.Gly539Asp)
c.1757G>A (p.Gly586Asp)
c.1811G>A (p.Gly604Asp)
c.1607G>A (p.Gly536Asp)
 dbSNP gnomAD v4
7g.75986019G>CCA367750632PORc.1541G>C (p.Gly514Ala)
c.1667G>C (p.Gly556Ala)
c.1766G>C (p.Gly589Ala)
c.*109-41G>C (n.*109-41G>C)
c.980G>C (p.Gly327Ala)
c.1917G>C
c.*1071G>C (n.*1071G>C)
n.377G>C
c.1820G>C (p.Gly607Ala)
c.1616G>C (p.Gly539Ala)
c.1757G>C (p.Gly586Ala)
c.1811G>C (p.Gly604Ala)
c.1607G>C (p.Gly536Ala)
7g.75986019G=CA1718180482PORc.1541G= (p.Gly514=)
c.1667G= (p.Gly556=)
c.1766G= (p.Gly589=)
c.*109-41G= (n.*109-41G=)
c.980G= (p.Gly327=)
c.1917G=
c.*1071G= (n.*1071G=)
n.377G=
c.1820G= (p.Gly607=)
c.1616G= (p.Gly539=)
c.1757G= (p.Gly586=)
c.1811G= (p.Gly604=)
c.1607G= (p.Gly536=)
7g.75986019G>TCA367750633PORc.1541G>T (p.Gly514Val)
c.1667G>T (p.Gly556Val)
c.1766G>T (p.Gly589Val)
c.*109-41G>T (n.*109-41G>T)
c.980G>T (p.Gly327Val)
c.1917G>T
c.*1071G>T (n.*1071G>T)
n.377G>T
c.1820G>T (p.Gly607Val)
c.1616G>T (p.Gly539Val)
c.1757G>T (p.Gly586Val)
c.1811G>T (p.Gly604Val)
c.1607G>T (p.Gly536Val)
7g.75986020T>ACA456331468PORc.1542T>A (p.Gly514=)
c.1668T>A (p.Gly556=)
c.1767T>A (p.Gly589=)
c.*109-40T>A (n.*109-40T>A)
c.981T>A (p.Gly327=)
c.1918T>A
c.*1072T>A (n.*1072T>A)
n.378T>A
c.1821T>A (p.Gly607=)
c.1617T>A (p.Gly539=)
c.1758T>A (p.Gly586=)
c.1812T>A (p.Gly604=)
c.1608T>A (p.Gly536=)
7g.75986020T>CCA456331469PORc.1542T>C (p.Gly514=)
c.1668T>C (p.Gly556=)
c.1767T>C (p.Gly589=)
c.*109-40T>C (n.*109-40T>C)
c.981T>C (p.Gly327=)
c.1918T>C
c.*1072T>C (n.*1072T>C)
n.378T>C
c.1821T>C (p.Gly607=)
c.1617T>C (p.Gly539=)
c.1758T>C (p.Gly586=)
c.1812T>C (p.Gly604=)
c.1608T>C (p.Gly536=)
 gnomAD v4
7g.75986020T>GCA456331470PORc.1542T>G (p.Gly514=)
c.1668T>G (p.Gly556=)
c.1767T>G (p.Gly589=)
c.*109-40T>G (n.*109-40T>G)
c.981T>G (p.Gly327=)
c.1918T>G
c.*1072T>G (n.*1072T>G)
n.378T>G
c.1821T>G (p.Gly607=)
c.1617T>G (p.Gly539=)
c.1758T>G (p.Gly586=)
c.1812T>G (p.Gly604=)
c.1608T>G (p.Gly536=)
7g.75986021G>ACA367750634PORc.1543G>A (p.Ala515Thr)
c.1669G>A (p.Ala557Thr)
c.1768G>A (p.Ala590Thr)
c.*109-39G>A (n.*109-39G>A)
c.982G>A (p.Ala328Thr)
c.1919G>A
c.*1073G>A (n.*1073G>A)
n.379G>A
c.1822G>A (p.Ala608Thr)
c.1618G>A (p.Ala540Thr)
c.1759G>A (p.Ala587Thr)
c.1813G>A (p.Ala605Thr)
c.1609G>A (p.Ala537Thr)
 gnomAD v4
7g.75986021G>CCA367750635PORc.1543G>C (p.Ala515Pro)
c.1669G>C (p.Ala557Pro)
c.1768G>C (p.Ala590Pro)
c.*109-39G>C (n.*109-39G>C)
c.982G>C (p.Ala328Pro)
c.1919G>C
c.*1073G>C (n.*1073G>C)
n.379G>C
c.1822G>C (p.Ala608Pro)
c.1618G>C (p.Ala540Pro)
c.1759G>C (p.Ala587Pro)
c.1813G>C (p.Ala605Pro)
c.1609G>C (p.Ala537Pro)
7g.75986021G=CA1718180483PORc.1543G= (p.Ala515=)
c.1669G= (p.Ala557=)
c.1768G= (p.Ala590=)
c.*109-39G= (n.*109-39G=)
c.982G= (p.Ala328=)
c.1919G=
c.*1073G= (n.*1073G=)
n.379G=
c.1822G= (p.Ala608=)
c.1618G= (p.Ala540=)
c.1759G= (p.Ala587=)
c.1813G= (p.Ala605=)
c.1609G= (p.Ala537=)
7g.75986021G>TCA367750636PORc.1543G>T (p.Ala515Ser)
c.1669G>T (p.Ala557Ser)
c.1768G>T (p.Ala590Ser)
c.*109-39G>T (n.*109-39G>T)
c.982G>T (p.Ala328Ser)
c.1919G>T
c.*1073G>T (n.*1073G>T)
n.379G>T
c.1822G>T (p.Ala608Ser)
c.1618G>T (p.Ala540Ser)
c.1759G>T (p.Ala587Ser)
c.1813G>T (p.Ala605Ser)
c.1609G>T (p.Ala537Ser)
7g.75986022C>ACA367750637PORc.1544C>A (p.Ala515Glu)
c.1670C>A (p.Ala557Glu)
c.1769C>A (p.Ala590Glu)
c.*109-38C>A (n.*109-38C>A)
c.983C>A (p.Ala328Glu)
c.1920C>A
c.*1074C>A (n.*1074C>A)
n.380C>A
c.1823C>A (p.Ala608Glu)
c.1619C>A (p.Ala540Glu)
c.1760C>A (p.Ala587Glu)
c.1814C>A (p.Ala605Glu)
c.1610C>A (p.Ala537Glu)
7g.75986022C=CA1718180484PORc.1544C= (p.Ala515=)
c.1670C= (p.Ala557=)
c.1769C= (p.Ala590=)
c.*109-38C= (n.*109-38C=)
c.983C= (p.Ala328=)
c.1920C=
c.*1074C= (n.*1074C=)
n.380C=
c.1823C= (p.Ala608=)
c.1619C= (p.Ala540=)
c.1760C= (p.Ala587=)
c.1814C= (p.Ala605=)
c.1610C= (p.Ala537=)
7g.75986022C>GCA367750638PORc.1544C>G (p.Ala515Gly)
c.1670C>G (p.Ala557Gly)
c.1769C>G (p.Ala590Gly)
c.*109-38C>G (n.*109-38C>G)
c.983C>G (p.Ala328Gly)
c.1920C>G
c.*1074C>G (n.*1074C>G)
n.380C>G
c.1823C>G (p.Ala608Gly)
c.1619C>G (p.Ala540Gly)
c.1760C>G (p.Ala587Gly)
c.1814C>G (p.Ala605Gly)
c.1610C>G (p.Ala537Gly)
 dbSNP gnomAD v3 gnomAD v4
7g.75986022C>TCA4304273PORc.1544C>T (p.Ala515Val)
c.1670C>T (p.Ala557Val)
c.1769C>T (p.Ala590Val)
c.*109-38C>T (n.*109-38C>T)
c.983C>T (p.Ala328Val)
c.1920C>T
c.*1074C>T (n.*1074C>T)
n.380C>T
c.1823C>T (p.Ala608Val)
c.1619C>T (p.Ala540Val)
c.1760C>T (p.Ala587Val)
c.1814C>T (p.Ala605Val)
c.1610C>T (p.Ala537Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986023_75986029dupCA891862846PORc.1545_1551dup (p.Gln518AlafsTer?)
c.1671_1677dup (p.Gln560AlafsTer?)
c.1770_1776dup (p.Gln593AlafsTer?)
c.*109-37_*109-31dup (n.*109-37_*109-31dup)
c.984_990dup (p.Gln331AlafsTer?)
c.1921_1927dup
c.*1075_*1081dup (n.*1075_*1081dup)
n.381_387dup
c.1824_1830dup (p.Gln611AlafsTer?)
c.1620_1626dup (p.Gln543AlafsTer?)
c.1761_1767dup (p.Gln590AlafsTer?)
c.1815_1821dup (p.Gln608AlafsTer?)
c.1611_1617dup (p.Gln540AlafsTer?)
 ClinVar dbSNP gnomAD v4
7g.75986023G>ACA456331473PORc.1545G>A (p.Ala515=)
c.1671G>A (p.Ala557=)
c.1770G>A (p.Ala590=)
c.*109-37G>A (n.*109-37G>A)
c.984G>A (p.Ala328=)
c.1921G>A
c.*1075G>A (n.*1075G>A)
n.381G>A
c.1824G>A (p.Ala608=)
c.1620G>A (p.Ala540=)
c.1761G>A (p.Ala587=)
c.1815G>A (p.Ala605=)
c.1611G>A (p.Ala537=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.75986023G>CCA456331474PORc.1545G>C (p.Ala515=)
c.1671G>C (p.Ala557=)
c.1770G>C (p.Ala590=)
c.*109-37G>C (n.*109-37G>C)
c.984G>C (p.Ala328=)
c.1921G>C
c.*1075G>C (n.*1075G>C)
n.381G>C
c.1824G>C (p.Ala608=)
c.1620G>C (p.Ala540=)
c.1761G>C (p.Ala587=)
c.1815G>C (p.Ala605=)
c.1611G>C (p.Ala537=)
 dbSNP gnomAD v3 gnomAD v4
7g.75986023G=CA1718180485PORc.1545G= (p.Ala515=)
c.1671G= (p.Ala557=)
c.1770G= (p.Ala590=)
c.*109-37G= (n.*109-37G=)
c.984G= (p.Ala328=)
c.1921G=
c.*1075G= (n.*1075G=)
n.381G=
c.1824G= (p.Ala608=)
c.1620G= (p.Ala540=)
c.1761G= (p.Ala587=)
c.1815G= (p.Ala605=)
c.1611G= (p.Ala537=)
7g.75986023G>TCA456331475PORc.1545G>T (p.Ala515=)
c.1671G>T (p.Ala557=)
c.1770G>T (p.Ala590=)
c.*109-37G>T (n.*109-37G>T)
c.984G>T (p.Ala328=)
c.1921G>T
c.*1075G>T (n.*1075G>T)
n.381G>T
c.1824G>T (p.Ala608=)
c.1620G>T (p.Ala540=)
c.1761G>T (p.Ala587=)
c.1815G>T (p.Ala605=)
c.1611G>T (p.Ala537=)
 gnomAD v4
7g.75986024C>ACA367750641PORc.1546C>A (p.Leu516Ile)
c.1672C>A (p.Leu558Ile)
c.1771C>A (p.Leu591Ile)
c.*109-36C>A (n.*109-36C>A)
c.985C>A (p.Leu329Ile)
c.1922C>A
c.*1076C>A (n.*1076C>A)
n.382C>A
c.1825C>A (p.Leu609Ile)
c.1621C>A (p.Leu541Ile)
c.1762C>A (p.Leu588Ile)
c.1816C>A (p.Leu606Ile)
c.1612C>A (p.Leu538Ile)
 gnomAD v4
7g.75986024C=CA1718180486PORc.1546C= (p.Leu516=)
c.1672C= (p.Leu558=)
c.1771C= (p.Leu591=)
c.*109-36C= (n.*109-36C=)
c.985C= (p.Leu329=)
c.1922C=
c.*1076C= (n.*1076C=)
n.382C=
c.1825C= (p.Leu609=)
c.1621C= (p.Leu541=)
c.1762C= (p.Leu588=)
c.1816C= (p.Leu606=)
c.1612C= (p.Leu538=)
7g.75986024C>GCA367750640PORc.1546C>G (p.Leu516Val)
c.1672C>G (p.Leu558Val)
c.1771C>G (p.Leu591Val)
c.*109-36C>G (n.*109-36C>G)
c.985C>G (p.Leu329Val)
c.1922C>G
c.*1076C>G (n.*1076C>G)
n.382C>G
c.1825C>G (p.Leu609Val)
c.1621C>G (p.Leu541Val)
c.1762C>G (p.Leu588Val)
c.1816C>G (p.Leu606Val)
c.1612C>G (p.Leu538Val)
7g.75986024C>TCA367750639PORc.1546C>T (p.Leu516Phe)
c.1672C>T (p.Leu558Phe)
c.1771C>T (p.Leu591Phe)
c.*109-36C>T (n.*109-36C>T)
c.985C>T (p.Leu329Phe)
c.1922C>T
c.*1076C>T (n.*1076C>T)
n.382C>T
c.1825C>T (p.Leu609Phe)
c.1621C>T (p.Leu541Phe)
c.1762C>T (p.Leu588Phe)
c.1816C>T (p.Leu606Phe)
c.1612C>T (p.Leu538Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.75986025T>ACA367750644PORc.1547T>A (p.Leu516His)
c.1673T>A (p.Leu558His)
c.1772T>A (p.Leu591His)
c.*109-35T>A (n.*109-35T>A)
c.986T>A (p.Leu329His)
c.1923T>A
c.*1077T>A (n.*1077T>A)
n.383T>A
c.1826T>A (p.Leu609His)
c.1622T>A (p.Leu541His)
c.1763T>A (p.Leu588His)
c.1817T>A (p.Leu606His)
c.1613T>A (p.Leu538His)
7g.75986025T>CCA367750642PORc.1547T>C (p.Leu516Pro)
c.1673T>C (p.Leu558Pro)
c.1772T>C (p.Leu591Pro)
c.*109-35T>C (n.*109-35T>C)
c.986T>C (p.Leu329Pro)
c.1923T>C
c.*1077T>C (n.*1077T>C)
n.383T>C
c.1826T>C (p.Leu609Pro)
c.1622T>C (p.Leu541Pro)
c.1763T>C (p.Leu588Pro)
c.1817T>C (p.Leu606Pro)
c.1613T>C (p.Leu538Pro)
7g.75986025T>GCA367750643PORc.1547T>G (p.Leu516Arg)
c.1673T>G (p.Leu558Arg)
c.1772T>G (p.Leu591Arg)
c.*109-35T>G (n.*109-35T>G)
c.986T>G (p.Leu329Arg)
c.1923T>G
c.*1077T>G (n.*1077T>G)
n.383T>G
c.1826T>G (p.Leu609Arg)
c.1622T>G (p.Leu541Arg)
c.1763T>G (p.Leu588Arg)
c.1817T>G (p.Leu606Arg)
c.1613T>G (p.Leu538Arg)
7g.75986026C>ACA456331482PORc.1548C>A (p.Leu516=)
c.1674C>A (p.Leu558=)
c.1773C>A (p.Leu591=)
c.*109-34C>A (n.*109-34C>A)
c.987C>A (p.Leu329=)
c.1924C>A
c.*1078C>A (n.*1078C>A)
n.384C>A
c.1827C>A (p.Leu609=)
c.1623C>A (p.Leu541=)
c.1764C>A (p.Leu588=)
c.1818C>A (p.Leu606=)
c.1614C>A (p.Leu538=)
7g.75986026C>GCA456331483PORc.1548C>G (p.Leu516=)
c.1674C>G (p.Leu558=)
c.1773C>G (p.Leu591=)
c.*109-34C>G (n.*109-34C>G)
c.987C>G (p.Leu329=)
c.1924C>G
c.*1078C>G (n.*1078C>G)
n.384C>G
c.1827C>G (p.Leu609=)
c.1623C>G (p.Leu541=)
c.1764C>G (p.Leu588=)
c.1818C>G (p.Leu606=)
c.1614C>G (p.Leu538=)
7g.75986026C>TCA456331488PORc.1548C>T (p.Leu516=)
c.1674C>T (p.Leu558=)
c.1773C>T (p.Leu591=)
c.*109-34C>T (n.*109-34C>T)
c.987C>T (p.Leu329=)
c.1924C>T
c.*1078C>T (n.*1078C>T)
n.384C>T
c.1827C>T (p.Leu609=)
c.1623C>T (p.Leu541=)
c.1764C>T (p.Leu588=)
c.1818C>T (p.Leu606=)
c.1614C>T (p.Leu538=)
 gnomAD v4
7g.75986027A>CCA367750645PORc.1549A>C (p.Thr517Pro)
c.1675A>C (p.Thr559Pro)
c.1774A>C (p.Thr592Pro)
c.*109-33A>C (n.*109-33A>C)
c.988A>C (p.Thr330Pro)
c.1925A>C
c.*1079A>C (n.*1079A>C)
n.385A>C
c.1828A>C (p.Thr610Pro)
c.1624A>C (p.Thr542Pro)
c.1765A>C (p.Thr589Pro)
c.1819A>C (p.Thr607Pro)
c.1615A>C (p.Thr539Pro)
7g.75986027A>GCA367750646PORc.1549A>G (p.Thr517Ala)
c.1675A>G (p.Thr559Ala)
c.1774A>G (p.Thr592Ala)
c.*109-33A>G (n.*109-33A>G)
c.988A>G (p.Thr330Ala)
c.1925A>G
c.*1079A>G (n.*1079A>G)
n.385A>G
c.1828A>G (p.Thr610Ala)
c.1624A>G (p.Thr542Ala)
c.1765A>G (p.Thr589Ala)
c.1819A>G (p.Thr607Ala)
c.1615A>G (p.Thr539Ala)
7g.75986027A>TCA367750647PORc.1549A>T (p.Thr517Ser)
c.1675A>T (p.Thr559Ser)
c.1774A>T (p.Thr592Ser)
c.*109-33A>T (n.*109-33A>T)
c.988A>T (p.Thr330Ser)
c.1925A>T
c.*1079A>T (n.*1079A>T)
n.385A>T
c.1828A>T (p.Thr610Ser)
c.1624A>T (p.Thr542Ser)
c.1765A>T (p.Thr589Ser)
c.1819A>T (p.Thr607Ser)
c.1615A>T (p.Thr539Ser)
7g.75986028C>ACA367750648PORc.1550C>A (p.Thr517Asn)
c.1676C>A (p.Thr559Asn)
c.1775C>A (p.Thr592Asn)
c.*109-32C>A (n.*109-32C>A)
c.989C>A (p.Thr330Asn)
c.1926C>A
c.*1080C>A (n.*1080C>A)
n.386C>A
c.1829C>A (p.Thr610Asn)
c.1625C>A (p.Thr542Asn)
c.1766C>A (p.Thr589Asn)
c.1820C>A (p.Thr607Asn)
c.1616C>A (p.Thr539Asn)
 gnomAD v4
7g.75986028C=CA1718180487PORc.1550C= (p.Thr517=)
c.1676C= (p.Thr559=)
c.1775C= (p.Thr592=)
c.*109-32C= (n.*109-32C=)
c.989C= (p.Thr330=)
c.1926C=
c.*1080C= (n.*1080C=)
n.386C=
c.1829C= (p.Thr610=)
c.1625C= (p.Thr542=)
c.1766C= (p.Thr589=)
c.1820C= (p.Thr607=)
c.1616C= (p.Thr539=)
7g.75986028C>GCA367750649PORc.1550C>G (p.Thr517Ser)
c.1676C>G (p.Thr559Ser)
c.1775C>G (p.Thr592Ser)
c.*109-32C>G (n.*109-32C>G)
c.989C>G (p.Thr330Ser)
c.1926C>G
c.*1080C>G (n.*1080C>G)
n.386C>G
c.1829C>G (p.Thr610Ser)
c.1625C>G (p.Thr542Ser)
c.1766C>G (p.Thr589Ser)
c.1820C>G (p.Thr607Ser)
c.1616C>G (p.Thr539Ser)
7g.75986028C>TCA4304274PORc.1550C>T (p.Thr517Ile)
c.1676C>T (p.Thr559Ile)
c.1775C>T (p.Thr592Ile)
c.*109-32C>T (n.*109-32C>T)
c.989C>T (p.Thr330Ile)
c.1926C>T
c.*1080C>T (n.*1080C>T)
n.386C>T
c.1829C>T (p.Thr610Ile)
c.1625C>T (p.Thr542Ile)
c.1766C>T (p.Thr589Ile)
c.1820C>T (p.Thr607Ile)
c.1616C>T (p.Thr539Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75986029C>ACA456331493PORc.1551C>A (p.Thr517=)
c.1677C>A (p.Thr559=)
c.1776C>A (p.Thr592=)
c.*109-31C>A (n.*109-31C>A)
c.990C>A (p.Thr330=)
c.1927C>A
c.*1081C>A (n.*1081C>A)
n.387C>A
c.1830C>A (p.Thr610=)
c.1626C>A (p.Thr542=)
c.1767C>A (p.Thr589=)
c.1821C>A (p.Thr607=)
c.1617C>A (p.Thr539=)
 ClinVar gnomAD v4
7g.75986029C>GCA456331497PORc.1551C>G (p.Thr517=)
c.1677C>G (p.Thr559=)
c.1776C>G (p.Thr592=)
c.*109-31C>G (n.*109-31C>G)
c.990C>G (p.Thr330=)
c.1927C>G
c.*1081C>G (n.*1081C>G)
n.387C>G
c.1830C>G (p.Thr610=)
c.1626C>G (p.Thr542=)
c.1767C>G (p.Thr589=)
c.1821C>G (p.Thr607=)
c.1617C>G (p.Thr539=)
7g.75986029C>TCA456331499PORc.1551C>T (p.Thr517=)
c.1677C>T (p.Thr559=)
c.1776C>T (p.Thr592=)
c.*109-31C>T (n.*109-31C>T)
c.990C>T (p.Thr330=)
c.1927C>T
c.*1081C>T (n.*1081C>T)
n.387C>T
c.1830C>T (p.Thr610=)
c.1626C>T (p.Thr542=)
c.1767C>T (p.Thr589=)
c.1821C>T (p.Thr607=)
c.1617C>T (p.Thr539=)
 gnomAD v4
7g.75986029_75986036dupCA4304275PORc.1551_1558dup (p.Asn520ThrfsTer21)
c.1677_1684dup (p.Asn562ThrfsTer21)
c.1776_1783dup (p.Asn595ThrfsTer21)
c.*109-31_*109-24dup (n.*109-31_*109-24dup)
c.990_997dup (p.Asn333ThrfsTer21)
c.1927_1934dup
c.*1081_*1088dup (n.*1081_*1088dup)
n.387_394dup
c.1830_1837dup (p.Asn613ThrfsTer21)
c.1626_1633dup (p.Asn545ThrfsTer21)
c.1767_1774dup (p.Asn592ThrfsTer21)
c.1821_1828dup (p.Asn610ThrfsTer21)
c.1617_1624dup (p.Asn542ThrfsTer21)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.75986030C>ACA367750650PORc.1552C>A (p.Gln518Lys)
c.1678C>A (p.Gln560Lys)
c.1777C>A (p.Gln593Lys)
c.*109-30C>A (n.*109-30C>A)
c.991C>A (p.Gln331Lys)
c.1928C>A
c.*1082C>A (n.*1082C>A)
n.388C>A
c.1831C>A (p.Gln611Lys)
c.1627C>A (p.Gln543Lys)
c.1768C>A (p.Gln590Lys)
c.1822C>A (p.Gln608Lys)
c.1618C>A (p.Gln540Lys)
 gnomAD v4
7g.75986030C>GCA367750651PORc.1552C>G (p.Gln518Glu)
c.1678C>G (p.Gln560Glu)
c.1777C>G (p.Gln593Glu)
c.*109-30C>G (n.*109-30C>G)
c.991C>G (p.Gln331Glu)
c.1928C>G
c.*1082C>G (n.*1082C>G)
n.388C>G
c.1831C>G (p.Gln611Glu)
c.1627C>G (p.Gln543Glu)
c.1768C>G (p.Gln590Glu)
c.1822C>G (p.Gln608Glu)
c.1618C>G (p.Gln540Glu)
7g.75986030C>TCA367750652PORc.1552C>T (p.Gln518Ter)
c.1678C>T (p.Gln560Ter)
c.1777C>T (p.Gln593Ter)
c.*109-30C>T (n.*109-30C>T)
c.991C>T (p.Gln331Ter)
c.1928C>T
c.*1082C>T (n.*1082C>T)
n.388C>T
c.1831C>T (p.Gln611Ter)
c.1627C>T (p.Gln543Ter)
c.1768C>T (p.Gln590Ter)
c.1822C>T (p.Gln608Ter)
c.1618C>T (p.Gln540Ter)
7g.75986031A>CCA367750654PORc.1553A>C (p.Gln518Pro)
c.1679A>C (p.Gln560Pro)
c.1778A>C (p.Gln593Pro)
c.*109-29A>C (n.*109-29A>C)
c.992A>C (p.Gln331Pro)
c.1929A>C
c.*1083A>C (n.*1083A>C)
n.389A>C
c.1832A>C (p.Gln611Pro)
c.1628A>C (p.Gln543Pro)
c.1769A>C (p.Gln590Pro)
c.1823A>C (p.Gln608Pro)
c.1619A>C (p.Gln540Pro)
7g.75986031A>GCA367750655PORc.1553A>G (p.Gln518Arg)
c.1679A>G (p.Gln560Arg)
c.1778A>G (p.Gln593Arg)
c.*109-29A>G (n.*109-29A>G)
c.992A>G (p.Gln331Arg)
c.1929A>G
c.*1083A>G (n.*1083A>G)
n.389A>G
c.1832A>G (p.Gln611Arg)
c.1628A>G (p.Gln543Arg)
c.1769A>G (p.Gln590Arg)
c.1823A>G (p.Gln608Arg)
c.1619A>G (p.Gln540Arg)
7g.75986031A>TCA367750653PORc.1553A>T (p.Gln518Leu)
c.1679A>T (p.Gln560Leu)
c.1778A>T (p.Gln593Leu)
c.*109-29A>T (n.*109-29A>T)
c.992A>T (p.Gln331Leu)
c.1929A>T
c.*1083A>T (n.*1083A>T)
n.389A>T
c.1832A>T (p.Gln611Leu)
c.1628A>T (p.Gln543Leu)
c.1769A>T (p.Gln590Leu)
c.1823A>T (p.Gln608Leu)
c.1619A>T (p.Gln540Leu)
7g.75986032G>ACA456331505PORc.1554G>A (p.Gln518=)
c.1680G>A (p.Gln560=)
c.1779G>A (p.Gln593=)
c.*109-28G>A (n.*109-28G>A)
c.993G>A (p.Gln331=)
c.1930G>A
c.*1084G>A (n.*1084G>A)
n.390G>A
c.1833G>A (p.Gln611=)
c.1629G>A (p.Gln543=)
c.1770G>A (p.Gln590=)
c.1824G>A (p.Gln608=)
c.1620G>A (p.Gln540=)
7g.75986032G>CCA367750656PORc.1554G>C (p.Gln518His)
c.1680G>C (p.Gln560His)
c.1779G>C (p.Gln593His)
c.*109-28G>C (n.*109-28G>C)
c.993G>C (p.Gln331His)
c.1930G>C
c.*1084G>C (n.*1084G>C)
n.390G>C
c.1833G>C (p.Gln611His)
c.1629G>C (p.Gln543His)
c.1770G>C (p.Gln590His)
c.1824G>C (p.Gln608His)
c.1620G>C (p.Gln540His)
7g.75986032G=CA1718180488PORc.1554G= (p.Gln518=)
c.1680G= (p.Gln560=)
c.1779G= (p.Gln593=)
c.*109-28G= (n.*109-28G=)
c.993G= (p.Gln331=)
c.1930G=
c.*1084G= (n.*1084G=)
n.390G=
c.1833G= (p.Gln611=)
c.1629G= (p.Gln543=)
c.1770G= (p.Gln590=)
c.1824G= (p.Gln608=)
c.1620G= (p.Gln540=)
7g.75986032G>TCA4304276PORc.1554G>T (p.Gln518His)
c.1680G>T (p.Gln560His)
c.1779G>T (p.Gln593His)
c.*109-28G>T (n.*109-28G>T)
c.993G>T (p.Gln331His)
c.1930G>T
c.*1084G>T (n.*1084G>T)
n.390G>T
c.1833G>T (p.Gln611His)
c.1629G>T (p.Gln543His)
c.1770G>T (p.Gln590His)
c.1824G>T (p.Gln608His)
c.1620G>T (p.Gln540His)
 dbSNP ExAC gnomAD v4
7g.75986033C>ACA367750657PORc.1555C>A (p.Leu519Ile)
c.1681C>A (p.Leu561Ile)
c.1780C>A (p.Leu594Ile)
c.*109-27C>A (n.*109-27C>A)
c.994C>A (p.Leu332Ile)
c.1931C>A
c.*1085C>A (n.*1085C>A)
n.391C>A
c.1834C>A (p.Leu612Ile)
c.1630C>A (p.Leu544Ile)
c.1771C>A (p.Leu591Ile)
c.1825C>A (p.Leu609Ile)
c.1621C>A (p.Leu541Ile)
7g.75986033C=CA1718180489PORc.1555C= (p.Leu519=)
c.1681C= (p.Leu561=)
c.1780C= (p.Leu594=)
c.*109-27C= (n.*109-27C=)
c.994C= (p.Leu332=)
c.1931C=
c.*1085C= (n.*1085C=)
n.391C=
c.1834C= (p.Leu612=)
c.1630C= (p.Leu544=)
c.1771C= (p.Leu591=)
c.1825C= (p.Leu609=)
c.1621C= (p.Leu541=)
7g.75986033C>GCA4304277PORc.1555C>G (p.Leu519Val)
c.1681C>G (p.Leu561Val)
c.1780C>G (p.Leu594Val)
c.*109-27C>G (n.*109-27C>G)
c.994C>G (p.Leu332Val)
c.1931C>G
c.*1085C>G (n.*1085C>G)
n.391C>G
c.1834C>G (p.Leu612Val)
c.1630C>G (p.Leu544Val)
c.1771C>G (p.Leu591Val)
c.1825C>G (p.Leu609Val)
c.1621C>G (p.Leu541Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986033C>TCA367750658PORc.1555C>T (p.Leu519Phe)
c.1681C>T (p.Leu561Phe)
c.1780C>T (p.Leu594Phe)
c.*109-27C>T (n.*109-27C>T)
c.994C>T (p.Leu332Phe)
c.1931C>T
c.*1085C>T (n.*1085C>T)
n.391C>T
c.1834C>T (p.Leu612Phe)
c.1630C>T (p.Leu544Phe)
c.1771C>T (p.Leu591Phe)
c.1825C>T (p.Leu609Phe)
c.1621C>T (p.Leu541Phe)
7g.75986034T>ACA367750661PORc.1556T>A (p.Leu519His)
c.1682T>A (p.Leu561His)
c.1781T>A (p.Leu594His)
c.*109-26T>A (n.*109-26T>A)
c.995T>A (p.Leu332His)
c.1932T>A
c.*1086T>A (n.*1086T>A)
n.392T>A
c.1835T>A (p.Leu612His)
c.1631T>A (p.Leu544His)
c.1772T>A (p.Leu591His)
c.1826T>A (p.Leu609His)
c.1622T>A (p.Leu541His)
7g.75986034T>CCA367750659PORc.1556T>C (p.Leu519Pro)
c.1682T>C (p.Leu561Pro)
c.1781T>C (p.Leu594Pro)
c.*109-26T>C (n.*109-26T>C)
c.995T>C (p.Leu332Pro)
c.1932T>C
c.*1086T>C (n.*1086T>C)
n.392T>C
c.1835T>C (p.Leu612Pro)
c.1631T>C (p.Leu544Pro)
c.1772T>C (p.Leu591Pro)
c.1826T>C (p.Leu609Pro)
c.1622T>C (p.Leu541Pro)
7g.75986034T>GCA367750660PORc.1556T>G (p.Leu519Arg)
c.1682T>G (p.Leu561Arg)
c.1781T>G (p.Leu594Arg)
c.*109-26T>G (n.*109-26T>G)
c.995T>G (p.Leu332Arg)
c.1932T>G
c.*1086T>G (n.*1086T>G)
n.392T>G
c.1835T>G (p.Leu612Arg)
c.1631T>G (p.Leu544Arg)
c.1772T>G (p.Leu591Arg)
c.1826T>G (p.Leu609Arg)
c.1622T>G (p.Leu541Arg)
7g.75986035C>ACA456331511PORc.1557C>A (p.Leu519=)
c.1683C>A (p.Leu561=)
c.1782C>A (p.Leu594=)
c.*109-25C>A (n.*109-25C>A)
c.996C>A (p.Leu332=)
c.1933C>A
c.*1087C>A (n.*1087C>A)
n.393C>A
c.1836C>A (p.Leu612=)
c.1632C>A (p.Leu544=)
c.1773C>A (p.Leu591=)
c.1827C>A (p.Leu609=)
c.1623C>A (p.Leu541=)
7g.75986035C>GCA456331512PORc.1557C>G (p.Leu519=)
c.1683C>G (p.Leu561=)
c.1782C>G (p.Leu594=)
c.*109-25C>G (n.*109-25C>G)
c.996C>G (p.Leu332=)
c.1933C>G
c.*1087C>G (n.*1087C>G)
n.393C>G
c.1836C>G (p.Leu612=)
c.1632C>G (p.Leu544=)
c.1773C>G (p.Leu591=)
c.1827C>G (p.Leu609=)
c.1623C>G (p.Leu541=)
7g.75986035C>TCA456331513PORc.1557C>T (p.Leu519=)
c.1683C>T (p.Leu561=)
c.1782C>T (p.Leu594=)
c.*109-25C>T (n.*109-25C>T)
c.996C>T (p.Leu332=)
c.1933C>T
c.*1087C>T (n.*1087C>T)
n.393C>T
c.1836C>T (p.Leu612=)
c.1632C>T (p.Leu544=)
c.1773C>T (p.Leu591=)
c.1827C>T (p.Leu609=)
c.1623C>T (p.Leu541=)
 ClinVar
7g.75986036A=CA1718180490PORc.1558A= (p.Asn520=)
c.1684A= (p.Asn562=)
c.1783A= (p.Asn595=)
c.*109-24A= (n.*109-24A=)
c.997A= (p.Asn333=)
c.1934A=
c.*1088A= (n.*1088A=)
n.394A=
c.1837A= (p.Asn613=)
c.1633A= (p.Asn545=)
c.1774A= (p.Asn592=)
c.1828A= (p.Asn610=)
c.1624A= (p.Asn542=)
7g.75986036A>CCA367750662PORc.1558A>C (p.Asn520His)
c.1684A>C (p.Asn562His)
c.1783A>C (p.Asn595His)
c.*109-24A>C (n.*109-24A>C)
c.997A>C (p.Asn333His)
c.1934A>C
c.*1088A>C (n.*1088A>C)
n.394A>C
c.1837A>C (p.Asn613His)
c.1633A>C (p.Asn545His)
c.1774A>C (p.Asn592His)
c.1828A>C (p.Asn610His)
c.1624A>C (p.Asn542His)
7g.75986036A>GCA367750663PORc.1558A>G (p.Asn520Asp)
c.1684A>G (p.Asn562Asp)
c.1783A>G (p.Asn595Asp)
c.*109-24A>G (n.*109-24A>G)
c.997A>G (p.Asn333Asp)
c.1934A>G
c.*1088A>G (n.*1088A>G)
n.394A>G
c.1837A>G (p.Asn613Asp)
c.1633A>G (p.Asn545Asp)
c.1774A>G (p.Asn592Asp)
c.1828A>G (p.Asn610Asp)
c.1624A>G (p.Asn542Asp)
 gnomAD v4
7g.75986036A>TCA367750664PORc.1558A>T (p.Asn520Tyr)
c.1684A>T (p.Asn562Tyr)
c.1783A>T (p.Asn595Tyr)
c.*109-24A>T (n.*109-24A>T)
c.997A>T (p.Asn333Tyr)
c.1934A>T
c.*1088A>T (n.*1088A>T)
n.394A>T
c.1837A>T (p.Asn613Tyr)
c.1633A>T (p.Asn545Tyr)
c.1774A>T (p.Asn592Tyr)
c.1828A>T (p.Asn610Tyr)
c.1624A>T (p.Asn542Tyr)
 dbSNP gnomAD v2 gnomAD v4
7g.75986037A=CA1718180491PORc.1559A= (p.Asn520=)
c.1685A= (p.Asn562=)
c.1784A= (p.Asn595=)
c.*109-23A= (n.*109-23A=)
c.998A= (p.Asn333=)
c.1935A=
c.*1089A= (n.*1089A=)
n.395A=
c.1838A= (p.Asn613=)
c.1634A= (p.Asn545=)
c.1775A= (p.Asn592=)
c.1829A= (p.Asn610=)
c.1625A= (p.Asn542=)
7g.75986037A>CCA367750665PORc.1559A>C (p.Asn520Thr)
c.1685A>C (p.Asn562Thr)
c.1784A>C (p.Asn595Thr)
c.*109-23A>C (n.*109-23A>C)
c.998A>C (p.Asn333Thr)
c.1935A>C
c.*1089A>C (n.*1089A>C)
n.395A>C
c.1838A>C (p.Asn613Thr)
c.1634A>C (p.Asn545Thr)
c.1775A>C (p.Asn592Thr)
c.1829A>C (p.Asn610Thr)
c.1625A>C (p.Asn542Thr)
7g.75986037A>GCA367750666PORc.1559A>G (p.Asn520Ser)
c.1685A>G (p.Asn562Ser)
c.1784A>G (p.Asn595Ser)
c.*109-23A>G (n.*109-23A>G)
c.998A>G (p.Asn333Ser)
c.1935A>G
c.*1089A>G (n.*1089A>G)
n.395A>G
c.1838A>G (p.Asn613Ser)
c.1634A>G (p.Asn545Ser)
c.1775A>G (p.Asn592Ser)
c.1829A>G (p.Asn610Ser)
c.1625A>G (p.Asn542Ser)
 dbSNP gnomAD v2
7g.75986037A>TCA367750667PORc.1559A>T (p.Asn520Ile)
c.1685A>T (p.Asn562Ile)
c.1784A>T (p.Asn595Ile)
c.*109-23A>T (n.*109-23A>T)
c.998A>T (p.Asn333Ile)
c.1935A>T
c.*1089A>T (n.*1089A>T)
n.395A>T
c.1838A>T (p.Asn613Ile)
c.1634A>T (p.Asn545Ile)
c.1775A>T (p.Asn592Ile)
c.1829A>T (p.Asn610Ile)
c.1625A>T (p.Asn542Ile)
7g.75986038C>ACA367750668PORc.1560C>A (p.Asn520Lys)
c.1686C>A (p.Asn562Lys)
c.1785C>A (p.Asn595Lys)
c.*109-22C>A (n.*109-22C>A)
c.999C>A (p.Asn333Lys)
c.1936C>A
c.*1090C>A (n.*1090C>A)
n.396C>A
c.1839C>A (p.Asn613Lys)
c.1635C>A (p.Asn545Lys)
c.1776C>A (p.Asn592Lys)
c.1830C>A (p.Asn610Lys)
c.1626C>A (p.Asn542Lys)
7g.75986038C=CA1718180492PORc.1560C= (p.Asn520=)
c.1686C= (p.Asn562=)
c.1785C= (p.Asn595=)
c.*109-22C= (n.*109-22C=)
c.999C= (p.Asn333=)
c.1936C=
c.*1090C= (n.*1090C=)
n.396C=
c.1839C= (p.Asn613=)
c.1635C= (p.Asn545=)
c.1776C= (p.Asn592=)
c.1830C= (p.Asn610=)
c.1626C= (p.Asn542=)
7g.75986038C>GCA367750669PORc.1560C>G (p.Asn520Lys)
c.1686C>G (p.Asn562Lys)
c.1785C>G (p.Asn595Lys)
c.*109-22C>G (n.*109-22C>G)
c.999C>G (p.Asn333Lys)
c.1936C>G
c.*1090C>G (n.*1090C>G)
n.396C>G
c.1839C>G (p.Asn613Lys)
c.1635C>G (p.Asn545Lys)
c.1776C>G (p.Asn592Lys)
c.1830C>G (p.Asn610Lys)
c.1626C>G (p.Asn542Lys)
 ClinVar
7g.75986038C>TCA4304278PORc.1560C>T (p.Asn520=)
c.1686C>T (p.Asn562=)
c.1785C>T (p.Asn595=)
c.*109-22C>T (n.*109-22C>T)
c.999C>T (p.Asn333=)
c.1936C>T
c.*1090C>T (n.*1090C>T)
n.396C>T
c.1839C>T (p.Asn613=)
c.1635C>T (p.Asn545=)
c.1776C>T (p.Asn592=)
c.1830C>T (p.Asn610=)
c.1626C>T (p.Asn542=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
7g.75986039G>ACA367750670PORc.1561G>A (p.Val521Met)
c.1687G>A (p.Val563Met)
c.1786G>A (p.Val596Met)
c.*109-21G>A (n.*109-21G>A)
c.1000G>A (p.Val334Met)
c.1937G>A
c.*1091G>A (n.*1091G>A)
n.397G>A
c.1840G>A (p.Val614Met)
c.1636G>A (p.Val546Met)
c.1777G>A (p.Val593Met)
c.1831G>A (p.Val611Met)
c.1627G>A (p.Val543Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75986039G>CCA367750672PORc.1561G>C (p.Val521Leu)
c.1687G>C (p.Val563Leu)
c.1786G>C (p.Val596Leu)
c.*109-21G>C (n.*109-21G>C)
c.1000G>C (p.Val334Leu)
c.1937G>C
c.*1091G>C (n.*1091G>C)
n.397G>C
c.1840G>C (p.Val614Leu)
c.1636G>C (p.Val546Leu)
c.1777G>C (p.Val593Leu)
c.1831G>C (p.Val611Leu)
c.1627G>C (p.Val543Leu)
 gnomAD v4
7g.75986039G=CA1718180493PORc.1561G= (p.Val521=)
c.1687G= (p.Val563=)
c.1786G= (p.Val596=)
c.*109-21G= (n.*109-21G=)
c.1000G= (p.Val334=)
c.1937G=
c.*1091G= (n.*1091G=)
n.397G=
c.1840G= (p.Val614=)
c.1636G= (p.Val546=)
c.1777G= (p.Val593=)
c.1831G= (p.Val611=)
c.1627G= (p.Val543=)
7g.75986039G>TCA367750671PORc.1561G>T (p.Val521Leu)
c.1687G>T (p.Val563Leu)
c.1786G>T (p.Val596Leu)
c.*109-21G>T (n.*109-21G>T)
c.1000G>T (p.Val334Leu)
c.1937G>T
c.*1091G>T (n.*1091G>T)
n.397G>T
c.1840G>T (p.Val614Leu)
c.1636G>T (p.Val546Leu)
c.1777G>T (p.Val593Leu)
c.1831G>T (p.Val611Leu)
c.1627G>T (p.Val543Leu)
7g.75986040T>ACA367750673PORc.1562T>A (p.Val521Glu)
c.1688T>A (p.Val563Glu)
c.1787T>A (p.Val596Glu)
c.*109-20T>A (n.*109-20T>A)
c.1001T>A (p.Val334Glu)
c.1938T>A
c.*1092T>A (n.*1092T>A)
n.398T>A
c.1841T>A (p.Val614Glu)
c.1637T>A (p.Val546Glu)
c.1778T>A (p.Val593Glu)
c.1832T>A (p.Val611Glu)
c.1628T>A (p.Val543Glu)
7g.75986040T>CCA367750674PORc.1562T>C (p.Val521Ala)
c.1688T>C (p.Val563Ala)
c.1787T>C (p.Val596Ala)
c.*109-20T>C (n.*109-20T>C)
c.1001T>C (p.Val334Ala)
c.1938T>C
c.*1092T>C (n.*1092T>C)
n.398T>C
c.1841T>C (p.Val614Ala)
c.1637T>C (p.Val546Ala)
c.1778T>C (p.Val593Ala)
c.1832T>C (p.Val611Ala)
c.1628T>C (p.Val543Ala)
 dbSNP gnomAD v2 gnomAD v4
7g.75986040T>GCA367750675PORc.1562T>G (p.Val521Gly)
c.1688T>G (p.Val563Gly)
c.1787T>G (p.Val596Gly)
c.*109-20T>G (n.*109-20T>G)
c.1001T>G (p.Val334Gly)
c.1938T>G
c.*1092T>G (n.*1092T>G)
n.398T>G
c.1841T>G (p.Val614Gly)
c.1637T>G (p.Val546Gly)
c.1778T>G (p.Val593Gly)
c.1832T>G (p.Val611Gly)
c.1628T>G (p.Val543Gly)
 gnomAD v4
7g.75986040T=CA1718180494PORc.1562T= (p.Val521=)
c.1688T= (p.Val563=)
c.1787T= (p.Val596=)
c.*109-20T= (n.*109-20T=)
c.1001T= (p.Val334=)
c.1938T=
c.*1092T= (n.*1092T=)
n.398T=
c.1841T= (p.Val614=)
c.1637T= (p.Val546=)
c.1778T= (p.Val593=)
c.1832T= (p.Val611=)
c.1628T= (p.Val543=)
7g.75986041G>ACA456331518PORc.1563G>A (p.Val521=)
c.1689G>A (p.Val563=)
c.1788G>A (p.Val596=)
c.*109-19G>A (n.*109-19G>A)
c.1002G>A (p.Val334=)
c.1939G>A
c.*1093G>A (n.*1093G>A)
n.399G>A
c.1842G>A (p.Val614=)
c.1638G>A (p.Val546=)
c.1779G>A (p.Val593=)
c.1833G>A (p.Val611=)
c.1629G>A (p.Val543=)
 gnomAD v4
7g.75986041G>CCA456331521PORc.1563G>C (p.Val521=)
c.1689G>C (p.Val563=)
c.1788G>C (p.Val596=)
c.*109-19G>C (n.*109-19G>C)
c.1002G>C (p.Val334=)
c.1939G>C
c.*1093G>C (n.*1093G>C)
n.399G>C
c.1842G>C (p.Val614=)
c.1638G>C (p.Val546=)
c.1779G>C (p.Val593=)
c.1833G>C (p.Val611=)
c.1629G>C (p.Val543=)
7g.75986041G>TCA456331522PORc.1563G>T (p.Val521=)
c.1689G>T (p.Val563=)
c.1788G>T (p.Val596=)
c.*109-19G>T (n.*109-19G>T)
c.1002G>T (p.Val334=)
c.1939G>T
c.*1093G>T (n.*1093G>T)
n.399G>T
c.1842G>T (p.Val614=)
c.1638G>T (p.Val546=)
c.1779G>T (p.Val593=)
c.1833G>T (p.Val611=)
c.1629G>T (p.Val543=)
7g.75986042G>ACA367750676PORc.1564G>A (p.Ala522Thr)
c.1690G>A (p.Ala564Thr)
c.1789G>A (p.Ala597Thr)
c.*109-18G>A (n.*109-18G>A)
c.1003G>A (p.Ala335Thr)
c.1940G>A
c.*1094G>A (n.*1094G>A)
n.400G>A
c.1843G>A (p.Ala615Thr)
c.1639G>A (p.Ala547Thr)
c.1780G>A (p.Ala594Thr)
c.1834G>A (p.Ala612Thr)
c.1630G>A (p.Ala544Thr)
7g.75986042G>CCA367750677PORc.1564G>C (p.Ala522Pro)
c.1690G>C (p.Ala564Pro)
c.1789G>C (p.Ala597Pro)
c.*109-18G>C (n.*109-18G>C)
c.1003G>C (p.Ala335Pro)
c.1940G>C
c.*1094G>C (n.*1094G>C)
n.400G>C
c.1843G>C (p.Ala615Pro)
c.1639G>C (p.Ala547Pro)
c.1780G>C (p.Ala594Pro)
c.1834G>C (p.Ala612Pro)
c.1630G>C (p.Ala544Pro)
 gnomAD v4
7g.75986042G>TCA367750678PORc.1564G>T (p.Ala522Ser)
c.1690G>T (p.Ala564Ser)
c.1789G>T (p.Ala597Ser)
c.*109-18G>T (n.*109-18G>T)
c.1003G>T (p.Ala335Ser)
c.1940G>T
c.*1094G>T (n.*1094G>T)
n.400G>T
c.1843G>T (p.Ala615Ser)
c.1639G>T (p.Ala547Ser)
c.1780G>T (p.Ala594Ser)
c.1834G>T (p.Ala612Ser)
c.1630G>T (p.Ala544Ser)
7g.75986043C>ACA367750679PORc.1565C>A (p.Ala522Asp)
c.1691C>A (p.Ala564Asp)
c.1790C>A (p.Ala597Asp)
c.*109-17C>A (n.*109-17C>A)
c.1004C>A (p.Ala335Asp)
c.1941C>A
c.*1095C>A (n.*1095C>A)
n.401C>A
c.1844C>A (p.Ala615Asp)
c.1640C>A (p.Ala547Asp)
c.1781C>A (p.Ala594Asp)
c.1835C>A (p.Ala612Asp)
c.1631C>A (p.Ala544Asp)
 gnomAD v4
7g.75986043C=CA1718180496PORc.1565C= (p.Ala522=)
c.1691C= (p.Ala564=)
c.1790C= (p.Ala597=)
c.*109-17C= (n.*109-17C=)
c.1004C= (p.Ala335=)
c.1941C=
c.*1095C= (n.*1095C=)
n.401C=
c.1844C= (p.Ala615=)
c.1640C= (p.Ala547=)
c.1781C= (p.Ala594=)
c.1835C= (p.Ala612=)
c.1631C= (p.Ala544=)
7g.75986043C>GCA367750680PORc.1565C>G (p.Ala522Gly)
c.1691C>G (p.Ala564Gly)
c.1790C>G (p.Ala597Gly)
c.*109-17C>G (n.*109-17C>G)
c.1004C>G (p.Ala335Gly)
c.1941C>G
c.*1095C>G (n.*1095C>G)
n.401C>G
c.1844C>G (p.Ala615Gly)
c.1640C>G (p.Ala547Gly)
c.1781C>G (p.Ala594Gly)
c.1835C>G (p.Ala612Gly)
c.1631C>G (p.Ala544Gly)
7g.75986043C>TCA160909887PORc.1565C>T (p.Ala522Val)
c.1691C>T (p.Ala564Val)
c.1790C>T (p.Ala597Val)
c.*109-17C>T (n.*109-17C>T)
c.1004C>T (p.Ala335Val)
c.1941C>T
c.*1095C>T (n.*1095C>T)
n.401C>T
c.1844C>T (p.Ala615Val)
c.1640C>T (p.Ala547Val)
c.1781C>T (p.Ala594Val)
c.1835C>T (p.Ala612Val)
c.1631C>T (p.Ala544Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75986043_75986046delinsCCTTCA1718180495PORc.1565_1568delinsCCTT (p.Ala522=)
c.1691_1694delinsCCTT (p.Ala564=)
c.1790_1793delinsCCTT (p.Ala597=)
c.*109-17_*109-14delinsCCTT (n.*109-17_*109-14delinsCCTT)
c.1004_1007delinsCCTT (p.Ala335=)
c.1941_1944delinsCCTT
c.*1095_*1098delinsCCTT (n.*1095_*1098delinsCCTT)
n.401_404delinsCCTT
c.1844_1847delinsCCTT (p.Ala615=)
c.1640_1643delinsCCTT (p.Ala547=)
c.1781_1784delinsCCTT (p.Ala594=)
c.1835_1838delinsCCTT (p.Ala612=)
c.1631_1634delinsCCTT (p.Ala544=)
7g.75986044C>ACA456331526PORc.1566C>A (p.Ala522=)
c.1692C>A (p.Ala564=)
c.1791C>A (p.Ala597=)
c.*109-16C>A (n.*109-16C>A)
c.1005C>A (p.Ala335=)
c.1942C>A
c.*1096C>A (n.*1096C>A)
n.402C>A
c.1845C>A (p.Ala615=)
c.1641C>A (p.Ala547=)
c.1782C>A (p.Ala594=)
c.1836C>A (p.Ala612=)
c.1632C>A (p.Ala544=)
 gnomAD v4
7g.75986044C=CA1718180497PORc.1566C= (p.Ala522=)
c.1692C= (p.Ala564=)
c.1791C= (p.Ala597=)
c.*109-16C= (n.*109-16C=)
c.1005C= (p.Ala335=)
c.1942C=
c.*1096C= (n.*1096C=)
n.402C=
c.1845C= (p.Ala615=)
c.1641C= (p.Ala547=)
c.1782C= (p.Ala594=)
c.1836C= (p.Ala612=)
c.1632C= (p.Ala544=)
7g.75986044C>GCA456331527PORc.1566C>G (p.Ala522=)
c.1692C>G (p.Ala564=)
c.1791C>G (p.Ala597=)
c.*109-16C>G (n.*109-16C>G)
c.1005C>G (p.Ala335=)
c.1942C>G
c.*1096C>G (n.*1096C>G)
n.402C>G
c.1845C>G (p.Ala615=)
c.1641C>G (p.Ala547=)
c.1782C>G (p.Ala594=)
c.1836C>G (p.Ala612=)
c.1632C>G (p.Ala544=)
7g.75986044C>TCA456331525PORc.1566C>T (p.Ala522=)
c.1692C>T (p.Ala564=)
c.1791C>T (p.Ala597=)
c.*109-16C>T (n.*109-16C>T)
c.1005C>T (p.Ala335=)
c.1942C>T
c.*1096C>T (n.*1096C>T)
n.402C>T
c.1845C>T (p.Ala615=)
c.1641C>T (p.Ala547=)
c.1782C>T (p.Ala594=)
c.1836C>T (p.Ala612=)
c.1632C>T (p.Ala544=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75986046_75986048delCA4304279PORc.1568_1570del (p.Phe523del)
c.1694_1696del (p.Phe565del)
c.1793_1795del (p.Phe598del)
c.*109-14_*109-12del (n.*109-14_*109-12del)
c.1007_1009del (p.Phe336del)
c.1944_1946del
c.*1098_*1100del (n.*1098_*1100del)
n.404_406del
c.1847_1849del (p.Phe616del)
c.1643_1645del (p.Phe548del)
c.1784_1786del (p.Phe595del)
c.1838_1840del (p.Phe613del)
c.1634_1636del (p.Phe545del)
 dbSNP ExAC gnomAD v3 gnomAD v4
7g.75986045T>ACA367750681PORc.1567T>A (p.Phe523Ile)
c.1693T>A (p.Phe565Ile)
c.1792T>A (p.Phe598Ile)
c.*109-15T>A (n.*109-15T>A)
c.1006T>A (p.Phe336Ile)
c.1943T>A
c.*1097T>A (n.*1097T>A)
n.403T>A
c.1846T>A (p.Phe616Ile)
c.1642T>A (p.Phe548Ile)
c.1783T>A (p.Phe595Ile)
c.1837T>A (p.Phe613Ile)
c.1633T>A (p.Phe545Ile)
7g.75986045T>CCA367750682PORc.1567T>C (p.Phe523Leu)
c.1693T>C (p.Phe565Leu)
c.1792T>C (p.Phe598Leu)
c.*109-15T>C (n.*109-15T>C)
c.1006T>C (p.Phe336Leu)
c.1943T>C
c.*1097T>C (n.*1097T>C)
n.403T>C
c.1846T>C (p.Phe616Leu)
c.1642T>C (p.Phe548Leu)
c.1783T>C (p.Phe595Leu)
c.1837T>C (p.Phe613Leu)
c.1633T>C (p.Phe545Leu)
7g.75986045T>GCA367750683PORc.1567T>G (p.Phe523Val)
c.1693T>G (p.Phe565Val)
c.1792T>G (p.Phe598Val)
c.*109-15T>G (n.*109-15T>G)
c.1006T>G (p.Phe336Val)
c.1943T>G
c.*1097T>G (n.*1097T>G)
n.403T>G
c.1846T>G (p.Phe616Val)
c.1642T>G (p.Phe548Val)
c.1783T>G (p.Phe595Val)
c.1837T>G (p.Phe613Val)
c.1633T>G (p.Phe545Val)
 dbSNP gnomAD v3 gnomAD v4
7g.75986045T=CA1718180498PORc.1567T= (p.Phe523=)
c.1693T= (p.Phe565=)
c.1792T= (p.Phe598=)
c.*109-15T= (n.*109-15T=)
c.1006T= (p.Phe336=)
c.1943T=
c.*1097T= (n.*1097T=)
n.403T=
c.1846T= (p.Phe616=)
c.1642T= (p.Phe548=)
c.1783T= (p.Phe595=)
c.1837T= (p.Phe613=)
c.1633T= (p.Phe545=)
7g.75986046T>ACA367750686PORc.1568T>A (p.Phe523Tyr)
c.1694T>A (p.Phe565Tyr)
c.1793T>A (p.Phe598Tyr)
c.*109-14T>A (n.*109-14T>A)
c.1007T>A (p.Phe336Tyr)
c.1944T>A
c.*1098T>A (n.*1098T>A)
n.404T>A
c.1847T>A (p.Phe616Tyr)
c.1643T>A (p.Phe548Tyr)
c.1784T>A (p.Phe595Tyr)
c.1838T>A (p.Phe613Tyr)
c.1634T>A (p.Phe545Tyr)
7g.75986046T>CCA367750684PORc.1568T>C (p.Phe523Ser)
c.1694T>C (p.Phe565Ser)
c.1793T>C (p.Phe598Ser)
c.*109-14T>C (n.*109-14T>C)
c.1007T>C (p.Phe336Ser)
c.1944T>C
c.*1098T>C (n.*1098T>C)
n.404T>C
c.1847T>C (p.Phe616Ser)
c.1643T>C (p.Phe548Ser)
c.1784T>C (p.Phe595Ser)
c.1838T>C (p.Phe613Ser)
c.1634T>C (p.Phe545Ser)
 dbSNP gnomAD v3 gnomAD v4
7g.75986046T>GCA367750685PORc.1568T>G (p.Phe523Cys)
c.1694T>G (p.Phe565Cys)
c.1793T>G (p.Phe598Cys)
c.*109-14T>G (n.*109-14T>G)
c.1007T>G (p.Phe336Cys)
c.1944T>G
c.*1098T>G (n.*1098T>G)
n.404T>G
c.1847T>G (p.Phe616Cys)
c.1643T>G (p.Phe548Cys)
c.1784T>G (p.Phe595Cys)
c.1838T>G (p.Phe613Cys)
c.1634T>G (p.Phe545Cys)
7g.75986046T=CA1718180499PORc.1568T= (p.Phe523=)
c.1694T= (p.Phe565=)
c.1793T= (p.Phe598=)
c.*109-14T= (n.*109-14T=)
c.1007T= (p.Phe336=)
c.1944T=
c.*1098T= (n.*1098T=)
n.404T=
c.1847T= (p.Phe616=)
c.1643T= (p.Phe548=)
c.1784T= (p.Phe595=)
c.1838T= (p.Phe613=)
c.1634T= (p.Phe545=)
7g.75986047C>ACA367750687PORc.1569C>A (p.Phe523Leu)
c.1695C>A (p.Phe565Leu)
c.1794C>A (p.Phe598Leu)
c.*109-13C>A (n.*109-13C>A)
c.1008C>A (p.Phe336Leu)
c.1945C>A
c.*1099C>A (n.*1099C>A)
n.405C>A
c.1848C>A (p.Phe616Leu)
c.1644C>A (p.Phe548Leu)
c.1785C>A (p.Phe595Leu)
c.1839C>A (p.Phe613Leu)
c.1635C>A (p.Phe545Leu)
 gnomAD v4
7g.75986047C=CA1718180500PORc.1569C= (p.Phe523=)
c.1695C= (p.Phe565=)
c.1794C= (p.Phe598=)
c.*109-13C= (n.*109-13C=)
c.1008C= (p.Phe336=)
c.1945C=
c.*1099C= (n.*1099C=)
n.405C=
c.1848C= (p.Phe616=)
c.1644C= (p.Phe548=)
c.1785C= (p.Phe595=)
c.1839C= (p.Phe613=)
c.1635C= (p.Phe545=)
7g.75986047C>GCA367750688PORc.1569C>G (p.Phe523Leu)
c.1695C>G (p.Phe565Leu)
c.1794C>G (p.Phe598Leu)
c.*109-13C>G (n.*109-13C>G)
c.1008C>G (p.Phe336Leu)
c.1945C>G
c.*1099C>G (n.*1099C>G)
n.405C>G
c.1848C>G (p.Phe616Leu)
c.1644C>G (p.Phe548Leu)
c.1785C>G (p.Phe595Leu)
c.1839C>G (p.Phe613Leu)
c.1635C>G (p.Phe545Leu)
7g.75986047C>TCA456331529PORc.1569C>T (p.Phe523=)
c.1695C>T (p.Phe565=)
c.1794C>T (p.Phe598=)
c.*109-13C>T (n.*109-13C>T)
c.1008C>T (p.Phe336=)
c.1945C>T
c.*1099C>T (n.*1099C>T)
n.405C>T
c.1848C>T (p.Phe616=)
c.1644C>T (p.Phe548=)
c.1785C>T (p.Phe595=)
c.1839C>T (p.Phe613=)
c.1635C>T (p.Phe545=)
 ClinVar dbSNP gnomAD v4
7g.75986048T>ACA367750689PORc.1570T>A (p.Ser524Thr)
c.1696T>A (p.Ser566Thr)
c.1795T>A (p.Ser599Thr)
c.*109-12T>A (n.*109-12T>A)
c.1009T>A (p.Ser337Thr)
c.1946T>A
c.*1100T>A (n.*1100T>A)
n.406T>A
c.1849T>A (p.Ser617Thr)
c.1645T>A (p.Ser549Thr)
c.1786T>A (p.Ser596Thr)
c.1840T>A (p.Ser614Thr)
c.1636T>A (p.Ser546Thr)
7g.75986048T>CCA367750690PORc.1570T>C (p.Ser524Pro)
c.1696T>C (p.Ser566Pro)
c.1795T>C (p.Ser599Pro)
c.*109-12T>C (n.*109-12T>C)
c.1009T>C (p.Ser337Pro)
c.1946T>C
c.*1100T>C (n.*1100T>C)
n.406T>C
c.1849T>C (p.Ser617Pro)
c.1645T>C (p.Ser549Pro)
c.1786T>C (p.Ser596Pro)
c.1840T>C (p.Ser614Pro)
c.1636T>C (p.Ser546Pro)
 dbSNP gnomAD v3 gnomAD v4
7g.75986048T>GCA367750691PORc.1570T>G (p.Ser524Ala)
c.1696T>G (p.Ser566Ala)
c.1795T>G (p.Ser599Ala)
c.*109-12T>G (n.*109-12T>G)
c.1009T>G (p.Ser337Ala)
c.1946T>G
c.*1100T>G (n.*1100T>G)
n.406T>G
c.1849T>G (p.Ser617Ala)
c.1645T>G (p.Ser549Ala)
c.1786T>G (p.Ser596Ala)
c.1840T>G (p.Ser614Ala)
c.1636T>G (p.Ser546Ala)
7g.75986048T=CA1718180501PORc.1570T= (p.Ser524=)
c.1696T= (p.Ser566=)
c.1795T= (p.Ser599=)
c.*109-12T= (n.*109-12T=)
c.1009T= (p.Ser337=)
c.1946T=
c.*1100T= (n.*1100T=)
n.406T=
c.1849T= (p.Ser617=)
c.1645T= (p.Ser549=)
c.1786T= (p.Ser596=)
c.1840T= (p.Ser614=)
c.1636T= (p.Ser546=)
7g.75986049C>ACA367750692PORc.1571C>A (p.Ser524Tyr)
c.1697C>A (p.Ser566Tyr)
c.1796C>A (p.Ser599Tyr)
c.*109-11C>A (n.*109-11C>A)
c.1010C>A (p.Ser337Tyr)
c.1947C>A
c.*1101C>A (n.*1101C>A)
n.407C>A
c.1850C>A (p.Ser617Tyr)
c.1646C>A (p.Ser549Tyr)
c.1787C>A (p.Ser596Tyr)
c.1841C>A (p.Ser614Tyr)
c.1637C>A (p.Ser546Tyr)
7g.75986049C=CA1718180502PORc.1571C= (p.Ser524=)
c.1697C= (p.Ser566=)
c.1796C= (p.Ser599=)
c.*109-11C= (n.*109-11C=)
c.1010C= (p.Ser337=)
c.1947C=
c.*1101C= (n.*1101C=)
n.407C=
c.1850C= (p.Ser617=)
c.1646C= (p.Ser549=)
c.1787C= (p.Ser596=)
c.1841C= (p.Ser614=)
c.1637C= (p.Ser546=)
7g.75986049C>GCA367750693PORc.1571C>G (p.Ser524Cys)
c.1697C>G (p.Ser566Cys)
c.1796C>G (p.Ser599Cys)
c.*109-11C>G (n.*109-11C>G)
c.1010C>G (p.Ser337Cys)
c.1947C>G
c.*1101C>G (n.*1101C>G)
n.407C>G
c.1850C>G (p.Ser617Cys)
c.1646C>G (p.Ser549Cys)
c.1787C>G (p.Ser596Cys)
c.1841C>G (p.Ser614Cys)
c.1637C>G (p.Ser546Cys)
7g.75986049C>TCA367750694PORc.1571C>T (p.Ser524Phe)
c.1697C>T (p.Ser566Phe)
c.1796C>T (p.Ser599Phe)
c.*109-11C>T (n.*109-11C>T)
c.1010C>T (p.Ser337Phe)
c.1947C>T
c.*1101C>T (n.*1101C>T)
n.407C>T
c.1850C>T (p.Ser617Phe)
c.1646C>T (p.Ser549Phe)
c.1787C>T (p.Ser596Phe)
c.1841C>T (p.Ser614Phe)
c.1637C>T (p.Ser546Phe)
 dbSNP gnomAD v2 gnomAD v4
7g.75986050C>ACA456331543PORc.1572C>A (p.Ser524=)
c.1698C>A (p.Ser566=)
c.1797C>A (p.Ser599=)
c.*109-10C>A (n.*109-10C>A)
c.1011C>A (p.Ser337=)
c.1948C>A
c.*1102C>A (n.*1102C>A)
n.408C>A
c.1851C>A (p.Ser617=)
c.1647C>A (p.Ser549=)
c.1788C>A (p.Ser596=)
c.1842C>A (p.Ser614=)
c.1638C>A (p.Ser546=)
7g.75986050C>GCA456331538PORc.1572C>G (p.Ser524=)
c.1698C>G (p.Ser566=)
c.1797C>G (p.Ser599=)
c.*109-10C>G (n.*109-10C>G)
c.1011C>G (p.Ser337=)
c.1948C>G
c.*1102C>G (n.*1102C>G)
n.408C>G
c.1851C>G (p.Ser617=)
c.1647C>G (p.Ser549=)
c.1788C>G (p.Ser596=)
c.1842C>G (p.Ser614=)
c.1638C>G (p.Ser546=)
7g.75986050C>TCA456331542PORc.1572C>T (p.Ser524=)
c.1698C>T (p.Ser566=)
c.1797C>T (p.Ser599=)
c.*109-10C>T (n.*109-10C>T)
c.1011C>T (p.Ser337=)
c.1948C>T
c.*1102C>T (n.*1102C>T)
n.408C>T
c.1851C>T (p.Ser617=)
c.1647C>T (p.Ser549=)
c.1788C>T (p.Ser596=)
c.1842C>T (p.Ser614=)
c.1638C>T (p.Ser546=)
 COSMIC COSMIC
7g.75986051C>ACA456331544PORc.1573C>A (p.Arg525=)
c.1699C>A (p.Arg567=)
c.1798C>A (p.Arg600=)
c.*109-9C>A (n.*109-9C>A)
c.1012C>A (p.Arg338=)
c.1949C>A
c.*1103C>A (n.*1103C>A)
n.409C>A
c.1852C>A (p.Arg618=)
c.1648C>A (p.Arg550=)
c.1789C>A (p.Arg597=)
c.1843C>A (p.Arg615=)
c.1639C>A (p.Arg547=)
 gnomAD v4
7g.75986051C=CA1718180503PORc.1573C= (p.Arg525=)
c.1699C= (p.Arg567=)
c.1798C= (p.Arg600=)
c.*109-9C= (n.*109-9C=)
c.1012C= (p.Arg338=)
c.1949C=
c.*1103C= (n.*1103C=)
n.409C=
c.1852C= (p.Arg618=)
c.1648C= (p.Arg550=)
c.1789C= (p.Arg597=)
c.1843C= (p.Arg615=)
c.1639C= (p.Arg547=)
7g.75986051C>GCA4304281PORc.1573C>G (p.Arg525Gly)
c.1699C>G (p.Arg567Gly)
c.1798C>G (p.Arg600Gly)
c.*109-9C>G (n.*109-9C>G)
c.1012C>G (p.Arg338Gly)
c.1949C>G
c.*1103C>G (n.*1103C>G)
n.409C>G
c.1852C>G (p.Arg618Gly)
c.1648C>G (p.Arg550Gly)
c.1789C>G (p.Arg597Gly)
c.1843C>G (p.Arg615Gly)
c.1639C>G (p.Arg547Gly)
 dbSNP ExAC gnomAD v2
7g.75986051C>TCA4304280PORc.1573C>T (p.Arg525Trp)
c.1699C>T (p.Arg567Trp)
c.1798C>T (p.Arg600Trp)
c.*109-9C>T (n.*109-9C>T)
c.1012C>T (p.Arg338Trp)
c.1949C>T
c.*1103C>T (n.*1103C>T)
n.409C>T
c.1852C>T (p.Arg618Trp)
c.1648C>T (p.Arg550Trp)
c.1789C>T (p.Arg597Trp)
c.1843C>T (p.Arg615Trp)
c.1639C>T (p.Arg547Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986051_75986052delinsCGCA1718180504PORc.1573_1574delinsCG (p.Arg525=)
c.1699_1700delinsCG (p.Arg567=)
c.1798_1799delinsCG (p.Arg600=)
c.*109-9_*109-8delinsCG (n.*109-9_*109-8delinsCG)
c.1012_1013delinsCG (p.Arg338=)
c.1949_1950delinsCG
c.*1103_*1104delinsCG (n.*1103_*1104delinsCG)
n.409_410delinsCG
c.1852_1853delinsCG (p.Arg618=)
c.1648_1649delinsCG (p.Arg550=)
c.1789_1790delinsCG (p.Arg597=)
c.1843_1844delinsCG (p.Arg615=)
c.1639_1640delinsCG (p.Arg547=)
7g.75986052G>ACA367750697PORc.1574G>A (p.Arg525Gln)
c.1700G>A (p.Arg567Gln)
c.1799G>A (p.Arg600Gln)
c.*109-8G>A (n.*109-8G>A)
c.1013G>A (p.Arg338Gln)
c.1950G>A
c.*1104G>A (n.*1104G>A)
n.410G>A
c.1853G>A (p.Arg618Gln)
c.1649G>A (p.Arg550Gln)
c.1790G>A (p.Arg597Gln)
c.1844G>A (p.Arg615Gln)
c.1640G>A (p.Arg547Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75986052G>CCA367750696PORc.1574G>C (p.Arg525Pro)
c.1700G>C (p.Arg567Pro)
c.1799G>C (p.Arg600Pro)
c.*109-8G>C (n.*109-8G>C)
c.1013G>C (p.Arg338Pro)
c.1950G>C
c.*1104G>C (n.*1104G>C)
n.410G>C
c.1853G>C (p.Arg618Pro)
c.1649G>C (p.Arg550Pro)
c.1790G>C (p.Arg597Pro)
c.1844G>C (p.Arg615Pro)
c.1640G>C (p.Arg547Pro)
 gnomAD v4
7g.75986052G=CA1718180505PORc.1574G= (p.Arg525=)
c.1700G= (p.Arg567=)
c.1799G= (p.Arg600=)
c.*109-8G= (n.*109-8G=)
c.1013G= (p.Arg338=)
c.1950G=
c.*1104G= (n.*1104G=)
n.410G=
c.1853G= (p.Arg618=)
c.1649G= (p.Arg550=)
c.1790G= (p.Arg597=)
c.1844G= (p.Arg615=)
c.1640G= (p.Arg547=)
7g.75986052G>TCA367750695PORc.1574G>T (p.Arg525Leu)
c.1700G>T (p.Arg567Leu)
c.1799G>T (p.Arg600Leu)
c.*109-8G>T (n.*109-8G>T)
c.1013G>T (p.Arg338Leu)
c.1950G>T
c.*1104G>T (n.*1104G>T)
n.410G>T
c.1853G>T (p.Arg618Leu)
c.1649G>T (p.Arg550Leu)
c.1790G>T (p.Arg597Leu)
c.1844G>T (p.Arg615Leu)
c.1640G>T (p.Arg547Leu)
7g.75986054delCA575786105PORc.1576del (p.Glu526SerfsTer12)
c.1702del (p.Glu568SerfsTer12)
c.1801del (p.Glu601SerfsTer12)
c.*109-6del (n.*109-6del)
c.1015del (p.Glu339SerfsTer12)
c.1952del
c.*1106del (n.*1106del)
n.412del
c.1855del (p.Glu619SerfsTer12)
c.1651del (p.Glu551SerfsTer12)
c.1792del (p.Glu598SerfsTer12)
c.1846del (p.Glu616SerfsTer12)
c.1642del (p.Glu548SerfsTer12)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.75986053G>ACA456331548PORc.1575G>A (p.Arg525=)
c.1701G>A (p.Arg567=)
c.1800G>A (p.Arg600=)
c.*109-7G>A (n.*109-7G>A)
c.1014G>A (p.Arg338=)
c.1951G>A
c.*1105G>A (n.*1105G>A)
n.411G>A
c.1854G>A (p.Arg618=)
c.1650G>A (p.Arg550=)
c.1791G>A (p.Arg597=)
c.1845G>A (p.Arg615=)
c.1641G>A (p.Arg547=)
 ClinVar
7g.75986053G>CCA456331550PORc.1575G>C (p.Arg525=)
c.1701G>C (p.Arg567=)
c.1800G>C (p.Arg600=)
c.*109-7G>C (n.*109-7G>C)
c.1014G>C (p.Arg338=)
c.1951G>C
c.*1105G>C (n.*1105G>C)
n.411G>C
c.1854G>C (p.Arg618=)
c.1650G>C (p.Arg550=)
c.1791G>C (p.Arg597=)
c.1845G>C (p.Arg615=)
c.1641G>C (p.Arg547=)
7g.75986053G>TCA456331553PORc.1575G>T (p.Arg525=)
c.1701G>T (p.Arg567=)
c.1800G>T (p.Arg600=)
c.*109-7G>T (n.*109-7G>T)
c.1014G>T (p.Arg338=)
c.1951G>T
c.*1105G>T (n.*1105G>T)
n.411G>T
c.1854G>T (p.Arg618=)
c.1650G>T (p.Arg550=)
c.1791G>T (p.Arg597=)
c.1845G>T (p.Arg615=)
c.1641G>T (p.Arg547=)
7g.75986054G>ACA367750698PORc.1576G>A (p.Glu526Lys)
c.1702G>A (p.Glu568Lys)
c.1801G>A (p.Glu601Lys)
c.*109-6G>A (n.*109-6G>A)
c.1015G>A (p.Glu339Lys)
c.1952G>A
c.*1106G>A (n.*1106G>A)
n.412G>A
c.1855G>A (p.Glu619Lys)
c.1651G>A (p.Glu551Lys)
c.1792G>A (p.Glu598Lys)
c.1846G>A (p.Glu616Lys)
c.1642G>A (p.Glu548Lys)
 dbSNP
7g.75986054G>CCA367750699PORc.1576G>C (p.Glu526Gln)
c.1702G>C (p.Glu568Gln)
c.1801G>C (p.Glu601Gln)
c.*109-6G>C (n.*109-6G>C)
c.1015G>C (p.Glu339Gln)
c.1952G>C
c.*1106G>C (n.*1106G>C)
n.412G>C
c.1855G>C (p.Glu619Gln)
c.1651G>C (p.Glu551Gln)
c.1792G>C (p.Glu598Gln)
c.1846G>C (p.Glu616Gln)
c.1642G>C (p.Glu548Gln)
7g.75986054G=CA1718180506PORc.1576G= (p.Glu526=)
c.1702G= (p.Glu568=)
c.1801G= (p.Glu601=)
c.*109-6G= (n.*109-6G=)
c.1015G= (p.Glu339=)
c.1952G=
c.*1106G= (n.*1106G=)
n.412G=
c.1855G= (p.Glu619=)
c.1651G= (p.Glu551=)
c.1792G= (p.Glu598=)
c.1846G= (p.Glu616=)
c.1642G= (p.Glu548=)
7g.75986054G>TCA367750700PORc.1576G>T (p.Glu526Ter)
c.1702G>T (p.Glu568Ter)
c.1801G>T (p.Glu601Ter)
c.*109-6G>T (n.*109-6G>T)
c.1015G>T (p.Glu339Ter)
c.1952G>T
c.*1106G>T (n.*1106G>T)
n.412G>T
c.1855G>T (p.Glu619Ter)
c.1651G>T (p.Glu551Ter)
c.1792G>T (p.Glu598Ter)
c.1846G>T (p.Glu616Ter)
c.1642G>T (p.Glu548Ter)
7g.75986055A>CCA367750701PORc.1577A>C (p.Glu526Ala)
c.1703A>C (p.Glu568Ala)
c.1802A>C (p.Glu601Ala)
c.*109-5A>C (n.*109-5A>C)
c.1016A>C (p.Glu339Ala)
c.1953A>C
c.*1107A>C (n.*1107A>C)
n.413A>C
c.1856A>C (p.Glu619Ala)
c.1652A>C (p.Glu551Ala)
c.1793A>C (p.Glu598Ala)
c.1847A>C (p.Glu616Ala)
c.1643A>C (p.Glu548Ala)
7g.75986055A>GCA367750702PORc.1577A>G (p.Glu526Gly)
c.1703A>G (p.Glu568Gly)
c.1802A>G (p.Glu601Gly)
c.*109-5A>G (n.*109-5A>G)
c.1016A>G (p.Glu339Gly)
c.1953A>G
c.*1107A>G (n.*1107A>G)
n.413A>G
c.1856A>G (p.Glu619Gly)
c.1652A>G (p.Glu551Gly)
c.1793A>G (p.Glu598Gly)
c.1847A>G (p.Glu616Gly)
c.1643A>G (p.Glu548Gly)
7g.75986055A>TCA367750703PORc.1577A>T (p.Glu526Val)
c.1703A>T (p.Glu568Val)
c.1802A>T (p.Glu601Val)
c.*109-5A>T (n.*109-5A>T)
c.1016A>T (p.Glu339Val)
c.1953A>T
c.*1107A>T (n.*1107A>T)
n.413A>T
c.1856A>T (p.Glu619Val)
c.1652A>T (p.Glu551Val)
c.1793A>T (p.Glu598Val)
c.1847A>T (p.Glu616Val)
c.1643A>T (p.Glu548Val)
7g.75986056G>ACA456331557PORc.1578G>A (p.Glu526=)
c.1704G>A (p.Glu568=)
c.1803G>A (p.Glu601=)
c.*109-4G>A (n.*109-4G>A)
c.1017G>A (p.Glu339=)
c.1954G>A
c.*1108G>A (n.*1108G>A)
n.414G>A
c.1857G>A (p.Glu619=)
c.1653G>A (p.Glu551=)
c.1794G>A (p.Glu598=)
c.1848G>A (p.Glu616=)
c.1644G>A (p.Glu548=)
 gnomAD v4
7g.75986056G>CCA367750704PORc.1578G>C (p.Glu526Asp)
c.1704G>C (p.Glu568Asp)
c.1803G>C (p.Glu601Asp)
c.*109-4G>C (n.*109-4G>C)
c.1017G>C (p.Glu339Asp)
c.1954G>C
c.*1108G>C (n.*1108G>C)
n.414G>C
c.1857G>C (p.Glu619Asp)
c.1653G>C (p.Glu551Asp)
c.1794G>C (p.Glu598Asp)
c.1848G>C (p.Glu616Asp)
c.1644G>C (p.Glu548Asp)
7g.75986056G>TCA367750705PORc.1578G>T (p.Glu526Asp)
c.1704G>T (p.Glu568Asp)
c.1803G>T (p.Glu601Asp)
c.*109-4G>T (n.*109-4G>T)
c.1017G>T (p.Glu339Asp)
c.1954G>T
c.*1108G>T (n.*1108G>T)
n.414G>T
c.1857G>T (p.Glu619Asp)
c.1653G>T (p.Glu551Asp)
c.1794G>T (p.Glu598Asp)
c.1848G>T (p.Glu616Asp)
c.1644G>T (p.Glu548Asp)
7g.75986057C>ACA367750706PORc.1579C>A (p.Gln527Lys)
c.1705C>A (p.Gln569Lys)
c.1804C>A (p.Gln602Lys)
c.*109-3C>A (n.*109-3C>A)
c.1018C>A (p.Gln340Lys)
c.1955C>A
c.*1109C>A (n.*1109C>A)
n.415C>A
c.1858C>A (p.Gln620Lys)
c.1654C>A (p.Gln552Lys)
c.1795C>A (p.Gln599Lys)
c.1849C>A (p.Gln617Lys)
c.1645C>A (p.Gln549Lys)
7g.75986057C>GCA367750707PORc.1579C>G (p.Gln527Glu)
c.1705C>G (p.Gln569Glu)
c.1804C>G (p.Gln602Glu)
c.*109-3C>G (n.*109-3C>G)
c.1018C>G (p.Gln340Glu)
c.1955C>G
c.*1109C>G (n.*1109C>G)
n.415C>G
c.1858C>G (p.Gln620Glu)
c.1654C>G (p.Gln552Glu)
c.1795C>G (p.Gln599Glu)
c.1849C>G (p.Gln617Glu)
c.1645C>G (p.Gln549Glu)
7g.75986057C>TCA367750708PORc.1579C>T (p.Gln527Ter)
c.1705C>T (p.Gln569Ter)
c.1804C>T (p.Gln602Ter)
c.*109-3C>T (n.*109-3C>T)
c.1018C>T (p.Gln340Ter)
c.1955C>T
c.*1109C>T (n.*1109C>T)
n.415C>T
c.1858C>T (p.Gln620Ter)
c.1654C>T (p.Gln552Ter)
c.1795C>T (p.Gln599Ter)
c.1849C>T (p.Gln617Ter)
c.1645C>T (p.Gln549Ter)
 ClinVar
7g.75986058A=CA1718180507PORc.1580A= (p.Gln527=)
c.1706A= (p.Gln569=)
c.1805A= (p.Gln602=)
c.*109-2A= (n.*109-2A=)
c.1019A= (p.Gln340=)
c.1956A=
c.*1110A= (n.*1110A=)
n.416A=
c.1859A= (p.Gln620=)
c.1655A= (p.Gln552=)
c.1796A= (p.Gln599=)
c.1850A= (p.Gln617=)
c.1646A= (p.Gln549=)
7g.75986058A>CCA367750709PORc.1580A>C (p.Gln527Pro)
c.1706A>C (p.Gln569Pro)
c.1805A>C (p.Gln602Pro)
c.*109-2A>C (n.*109-2A>C)
c.1019A>C (p.Gln340Pro)
c.1956A>C
c.*1110A>C (n.*1110A>C)
n.416A>C
c.1859A>C (p.Gln620Pro)
c.1655A>C (p.Gln552Pro)
c.1796A>C (p.Gln599Pro)
c.1850A>C (p.Gln617Pro)
c.1646A>C (p.Gln549Pro)
7g.75986058A>GCA367750710PORc.1580A>G (p.Gln527Arg)
c.1706A>G (p.Gln569Arg)
c.1805A>G (p.Gln602Arg)
c.*109-2A>G (n.*109-2A>G)
c.1019A>G (p.Gln340Arg)
c.1956A>G
c.*1110A>G (n.*1110A>G)
n.416A>G
c.1859A>G (p.Gln620Arg)
c.1655A>G (p.Gln552Arg)
c.1796A>G (p.Gln599Arg)
c.1850A>G (p.Gln617Arg)
c.1646A>G (p.Gln549Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.75986058A>TCA367750711PORc.1580A>T (p.Gln527Leu)
c.1706A>T (p.Gln569Leu)
c.1805A>T (p.Gln602Leu)
c.*109-2A>T (n.*109-2A>T)
c.1019A>T (p.Gln340Leu)
c.1956A>T
c.*1110A>T (n.*1110A>T)
n.416A>T
c.1859A>T (p.Gln620Leu)
c.1655A>T (p.Gln552Leu)
c.1796A>T (p.Gln599Leu)
c.1850A>T (p.Gln617Leu)
c.1646A>T (p.Gln549Leu)
7g.75986059G>ACA456331570PORc.1581G>A (p.Gln527=)
c.1707G>A (p.Gln569=)
c.1806G>A (p.Gln602=)
c.*109-1G>A (n.*109-1G>A)
c.1020G>A (p.Gln340=)
c.1957G>A
c.*1111G>A (n.*1111G>A)
n.417G>A
c.1860G>A (p.Gln620=)
c.1656G>A (p.Gln552=)
c.1797G>A (p.Gln599=)
c.1851G>A (p.Gln617=)
c.1647G>A (p.Gln549=)
7g.75986059G>CCA4304282PORc.1581G>C (p.Gln527His)
c.1707G>C (p.Gln569His)
c.1806G>C (p.Gln602His)
c.*109-1G>C (n.*109-1G>C)
c.1020G>C (p.Gln340His)
c.1957G>C
c.*1111G>C (n.*1111G>C)
n.417G>C
c.1860G>C (p.Gln620His)
c.1656G>C (p.Gln552His)
c.1797G>C (p.Gln599His)
c.1851G>C (p.Gln617His)
c.1647G>C (p.Gln549His)
 dbSNP ExAC gnomAD v2
7g.75986059G=CA1718180508PORc.1581G= (p.Gln527=)
c.1707G= (p.Gln569=)
c.1806G= (p.Gln602=)
c.*109-1G= (n.*109-1G=)
c.1020G= (p.Gln340=)
c.1957G=
c.*1111G= (n.*1111G=)
n.417G=
c.1860G= (p.Gln620=)
c.1656G= (p.Gln552=)
c.1797G= (p.Gln599=)
c.1851G= (p.Gln617=)
c.1647G= (p.Gln549=)
7g.75986059G>TCA367750712PORc.1581G>T (p.Gln527His)
c.1707G>T (p.Gln569His)
c.1806G>T (p.Gln602His)
c.*109-1G>T (n.*109-1G>T)
c.1020G>T (p.Gln340His)
c.1957G>T
c.*1111G>T (n.*1111G>T)
n.417G>T
c.1860G>T (p.Gln620His)
c.1656G>T (p.Gln552His)
c.1797G>T (p.Gln599His)
c.1851G>T (p.Gln617His)
c.1647G>T (p.Gln549His)
 dbSNP gnomAD v3 gnomAD v4
7g.75986060T>ACA367750713PORc.1582T>A (p.Ser528Thr)
c.1708T>A (p.Ser570Thr)
c.1807T>A (p.Ser603Thr)
c.*109T>A (n.*109T>A)
c.1021T>A (p.Ser341Thr)
c.1958T>A
c.*1112T>A (n.*1112T>A)
n.418T>A
c.1861T>A (p.Ser621Thr)
c.1657T>A (p.Ser553Thr)
c.1798T>A (p.Ser600Thr)
c.1852T>A (p.Ser618Thr)
c.1648T>A (p.Ser550Thr)
 gnomAD v4
7g.75986060T>CCA367750714PORc.1582T>C (p.Ser528Pro)
c.1708T>C (p.Ser570Pro)
c.1807T>C (p.Ser603Pro)
c.*109T>C (n.*109T>C)
c.1021T>C (p.Ser341Pro)
c.1958T>C
c.*1112T>C (n.*1112T>C)
n.418T>C
c.1861T>C (p.Ser621Pro)
c.1657T>C (p.Ser553Pro)
c.1798T>C (p.Ser600Pro)
c.1852T>C (p.Ser618Pro)
c.1648T>C (p.Ser550Pro)
7g.75986060T>GCA367750715PORc.1582T>G (p.Ser528Ala)
c.1708T>G (p.Ser570Ala)
c.1807T>G (p.Ser603Ala)
c.*109T>G (n.*109T>G)
c.1021T>G (p.Ser341Ala)
c.1958T>G
c.*1112T>G (n.*1112T>G)
n.418T>G
c.1861T>G (p.Ser621Ala)
c.1657T>G (p.Ser553Ala)
c.1798T>G (p.Ser600Ala)
c.1852T>G (p.Ser618Ala)
c.1648T>G (p.Ser550Ala)
7g.75986061C>ACA367750716PORc.1583C>A (p.Ser528Tyr)
c.1709C>A (p.Ser570Tyr)
c.1808C>A (p.Ser603Tyr)
c.*110C>A (n.*110C>A)
c.1022C>A (p.Ser341Tyr)
c.1959C>A
c.*1113C>A (n.*1113C>A)
n.419C>A
c.1862C>A (p.Ser621Tyr)
c.1658C>A (p.Ser553Tyr)
c.1799C>A (p.Ser600Tyr)
c.1853C>A (p.Ser618Tyr)
c.1649C>A (p.Ser550Tyr)
7g.75986061C>GCA367750717PORc.1583C>G (p.Ser528Cys)
c.1709C>G (p.Ser570Cys)
c.1808C>G (p.Ser603Cys)
c.*110C>G (n.*110C>G)
c.1022C>G (p.Ser341Cys)
c.1959C>G
c.*1113C>G (n.*1113C>G)
n.419C>G
c.1862C>G (p.Ser621Cys)
c.1658C>G (p.Ser553Cys)
c.1799C>G (p.Ser600Cys)
c.1853C>G (p.Ser618Cys)
c.1649C>G (p.Ser550Cys)
 gnomAD v4
7g.75986061C>TCA367750718PORc.1583C>T (p.Ser528Phe)
c.1709C>T (p.Ser570Phe)
c.1808C>T (p.Ser603Phe)
c.*110C>T (n.*110C>T)
c.1022C>T (p.Ser341Phe)
c.1959C>T
c.*1113C>T (n.*1113C>T)
n.419C>T
c.1862C>T (p.Ser621Phe)
c.1658C>T (p.Ser553Phe)
c.1799C>T (p.Ser600Phe)
c.1853C>T (p.Ser618Phe)
c.1649C>T (p.Ser550Phe)
 gnomAD v4
7g.75986062C>ACA456331575PORc.1584C>A (p.Ser528=)
c.1710C>A (p.Ser570=)
c.1809C>A (p.Ser603=)
c.*111C>A (n.*111C>A)
c.1023C>A (p.Ser341=)
c.1960C>A
c.*1114C>A (n.*1114C>A)
n.420C>A
c.1863C>A (p.Ser621=)
c.1659C>A (p.Ser553=)
c.1800C>A (p.Ser600=)
c.1854C>A (p.Ser618=)
c.1650C>A (p.Ser550=)
7g.75986062C>GCA456331576PORc.1584C>G (p.Ser528=)
c.1710C>G (p.Ser570=)
c.1809C>G (p.Ser603=)
c.*111C>G (n.*111C>G)
c.1023C>G (p.Ser341=)
c.1960C>G
c.*1114C>G (n.*1114C>G)
n.420C>G
c.1863C>G (p.Ser621=)
c.1659C>G (p.Ser553=)
c.1800C>G (p.Ser600=)
c.1854C>G (p.Ser618=)
c.1650C>G (p.Ser550=)
7g.75986062C>TCA456331578PORc.1584C>T (p.Ser528=)
c.1710C>T (p.Ser570=)
c.1809C>T (p.Ser603=)
c.*111C>T (n.*111C>T)
c.1023C>T (p.Ser341=)
c.1960C>T
c.*1114C>T (n.*1114C>T)
n.420C>T
c.1863C>T (p.Ser621=)
c.1659C>T (p.Ser553=)
c.1800C>T (p.Ser600=)
c.1854C>T (p.Ser618=)
c.1650C>T (p.Ser550=)
7g.75986063C>ACA367750719PORc.1585C>A (p.His529Asn)
c.1711C>A (p.His571Asn)
c.1810C>A (p.His604Asn)
c.*112C>A (n.*112C>A)
c.1024C>A (p.His342Asn)
c.1961C>A
c.*1115C>A (n.*1115C>A)
n.421C>A
c.1864C>A (p.His622Asn)
c.1660C>A (p.His554Asn)
c.1801C>A (p.His601Asn)
c.1855C>A (p.His619Asn)
c.1651C>A (p.His551Asn)
7g.75986063C>GCA367750720PORc.1585C>G (p.His529Asp)
c.1711C>G (p.His571Asp)
c.1810C>G (p.His604Asp)
c.*112C>G (n.*112C>G)
c.1024C>G (p.His342Asp)
c.1961C>G
c.*1115C>G (n.*1115C>G)
n.421C>G
c.1864C>G (p.His622Asp)
c.1660C>G (p.His554Asp)
c.1801C>G (p.His601Asp)
c.1855C>G (p.His619Asp)
c.1651C>G (p.His551Asp)
7g.75986063C>TCA367750721PORc.1585C>T (p.His529Tyr)
c.1711C>T (p.His571Tyr)
c.1810C>T (p.His604Tyr)
c.*112C>T (n.*112C>T)
c.1024C>T (p.His342Tyr)
c.1961C>T
c.*1115C>T (n.*1115C>T)
n.421C>T
c.1864C>T (p.His622Tyr)
c.1660C>T (p.His554Tyr)
c.1801C>T (p.His601Tyr)
c.1855C>T (p.His619Tyr)
c.1651C>T (p.His551Tyr)
7g.75986064A>CCA367750722PORc.1586A>C (p.His529Pro)
c.1712A>C (p.His571Pro)
c.1811A>C (p.His604Pro)
c.*113A>C (n.*113A>C)
c.1025A>C (p.His342Pro)
c.1962A>C
c.*1116A>C (n.*1116A>C)
n.422A>C
c.1865A>C (p.His622Pro)
c.1661A>C (p.His554Pro)
c.1802A>C (p.His601Pro)
c.1856A>C (p.His619Pro)
c.1652A>C (p.His551Pro)
7g.75986064A>GCA367750723PORc.1586A>G (p.His529Arg)
c.1712A>G (p.His571Arg)
c.1811A>G (p.His604Arg)
c.*113A>G (n.*113A>G)
c.1025A>G (p.His342Arg)
c.1962A>G
c.*1116A>G (n.*1116A>G)
n.422A>G
c.1865A>G (p.His622Arg)
c.1661A>G (p.His554Arg)
c.1802A>G (p.His601Arg)
c.1856A>G (p.His619Arg)
c.1652A>G (p.His551Arg)
7g.75986064A>TCA367750724PORc.1586A>T (p.His529Leu)
c.1712A>T (p.His571Leu)
c.1811A>T (p.His604Leu)
c.*113A>T (n.*113A>T)
c.1025A>T (p.His342Leu)
c.1962A>T
c.*1116A>T (n.*1116A>T)
n.422A>T
c.1865A>T (p.His622Leu)
c.1661A>T (p.His554Leu)
c.1802A>T (p.His601Leu)
c.1856A>T (p.His619Leu)
c.1652A>T (p.His551Leu)
7g.75986065C>ACA367750725PORc.1587C>A (p.His529Gln)
c.1713C>A (p.His571Gln)
c.1812C>A (p.His604Gln)
c.*114C>A (n.*114C>A)
c.1026C>A (p.His342Gln)
c.1963C>A
c.*1117C>A (n.*1117C>A)
n.423C>A
c.1866C>A (p.His622Gln)
c.1662C>A (p.His554Gln)
c.1803C>A (p.His601Gln)
c.1857C>A (p.His619Gln)
c.1653C>A (p.His551Gln)
7g.75986065C=CA1718180509PORc.1587C= (p.His529=)
c.1713C= (p.His571=)
c.1812C= (p.His604=)
c.*114C= (n.*114C=)
c.1026C= (p.His342=)
c.1963C=
c.*1117C= (n.*1117C=)
n.423C=
c.1866C= (p.His622=)
c.1662C= (p.His554=)
c.1803C= (p.His601=)
c.1857C= (p.His619=)
c.1653C= (p.His551=)
7g.75986065C>GCA367750726PORc.1587C>G (p.His529Gln)
c.1713C>G (p.His571Gln)
c.1812C>G (p.His604Gln)
c.*114C>G (n.*114C>G)
c.1026C>G (p.His342Gln)
c.1963C>G
c.*1117C>G (n.*1117C>G)
n.423C>G
c.1866C>G (p.His622Gln)
c.1662C>G (p.His554Gln)
c.1803C>G (p.His601Gln)
c.1857C>G (p.His619Gln)
c.1653C>G (p.His551Gln)
7g.75986065C>TCA456331584PORc.1587C>T (p.His529=)
c.1713C>T (p.His571=)
c.1812C>T (p.His604=)
c.*114C>T (n.*114C>T)
c.1026C>T (p.His342=)
c.1963C>T
c.*1117C>T (n.*1117C>T)
n.423C>T
c.1866C>T (p.His622=)
c.1662C>T (p.His554=)
c.1803C>T (p.His601=)
c.1857C>T (p.His619=)
c.1653C>T (p.His551=)
 dbSNP gnomAD v4
7g.75986066A>CCA367750727PORc.1588A>C (p.Lys530Gln)
c.1714A>C (p.Lys572Gln)
c.1813A>C (p.Lys605Gln)
c.*115A>C (n.*115A>C)
c.1027A>C (p.Lys343Gln)
c.1964A>C
c.*1118A>C (n.*1118A>C)
n.424A>C
c.1867A>C (p.Lys623Gln)
c.1663A>C (p.Lys555Gln)
c.1804A>C (p.Lys602Gln)
c.1858A>C (p.Lys620Gln)
c.1654A>C (p.Lys552Gln)
 gnomAD v4
7g.75986066A>GCA367750729PORc.1588A>G (p.Lys530Glu)
c.1714A>G (p.Lys572Glu)
c.1813A>G (p.Lys605Glu)
c.*115A>G (n.*115A>G)
c.1027A>G (p.Lys343Glu)
c.1964A>G
c.*1118A>G (n.*1118A>G)
n.424A>G
c.1867A>G (p.Lys623Glu)
c.1663A>G (p.Lys555Glu)
c.1804A>G (p.Lys602Glu)
c.1858A>G (p.Lys620Glu)
c.1654A>G (p.Lys552Glu)
7g.75986066A>TCA367750728PORc.1588A>T (p.Lys530Ter)
c.1714A>T (p.Lys572Ter)
c.1813A>T (p.Lys605Ter)
c.*115A>T (n.*115A>T)
c.1027A>T (p.Lys343Ter)
c.1964A>T
c.*1118A>T (n.*1118A>T)
n.424A>T
c.1867A>T (p.Lys623Ter)
c.1663A>T (p.Lys555Ter)
c.1804A>T (p.Lys602Ter)
c.1858A>T (p.Lys620Ter)
c.1654A>T (p.Lys552Ter)
7g.75986067delCA2683385125PORc.1589del (p.Lys530ArgfsTer8)
c.1715del (p.Lys572ArgfsTer8)
c.1814del (p.Lys605ArgfsTer8)
c.*116del (n.*116del)
c.1028del (p.Lys343ArgfsTer8)
c.1965del
c.*1119del (n.*1119del)
n.425del
c.1868del (p.Lys623ArgfsTer8)
c.1664del (p.Lys555ArgfsTer8)
c.1805del (p.Lys602ArgfsTer8)
c.1859del (p.Lys620ArgfsTer8)
c.1655del (p.Lys552ArgfsTer8)
 gnomAD v4
7g.75986067A>CCA367750730PORc.1589A>C (p.Lys530Thr)
c.1715A>C (p.Lys572Thr)
c.1814A>C (p.Lys605Thr)
c.*116A>C (n.*116A>C)
c.1028A>C (p.Lys343Thr)
c.1965A>C
c.*1119A>C (n.*1119A>C)
n.425A>C
c.1868A>C (p.Lys623Thr)
c.1664A>C (p.Lys555Thr)
c.1805A>C (p.Lys602Thr)
c.1859A>C (p.Lys620Thr)
c.1655A>C (p.Lys552Thr)
7g.75986067A>GCA367750732PORc.1589A>G (p.Lys530Arg)
c.1715A>G (p.Lys572Arg)
c.1814A>G (p.Lys605Arg)
c.*116A>G (n.*116A>G)
c.1028A>G (p.Lys343Arg)
c.1965A>G
c.*1119A>G (n.*1119A>G)
n.425A>G
c.1868A>G (p.Lys623Arg)
c.1664A>G (p.Lys555Arg)
c.1805A>G (p.Lys602Arg)
c.1859A>G (p.Lys620Arg)
c.1655A>G (p.Lys552Arg)
 gnomAD v4
7g.75986067A>TCA367750731PORc.1589A>T (p.Lys530Met)
c.1715A>T (p.Lys572Met)
c.1814A>T (p.Lys605Met)
c.*116A>T (n.*116A>T)
c.1028A>T (p.Lys343Met)
c.1965A>T
c.*1119A>T (n.*1119A>T)
n.425A>T
c.1868A>T (p.Lys623Met)
c.1664A>T (p.Lys555Met)
c.1805A>T (p.Lys602Met)
c.1859A>T (p.Lys620Met)
c.1655A>T (p.Lys552Met)
7g.75986068G>ACA456331587PORc.1590G>A (p.Lys530=)
c.1716G>A (p.Lys572=)
c.1815G>A (p.Lys605=)
c.*117G>A (n.*117G>A)
c.1029G>A (p.Lys343=)
c.1966G>A
c.*1120G>A (n.*1120G>A)
n.426G>A
c.1869G>A (p.Lys623=)
c.1665G>A (p.Lys555=)
c.1806G>A (p.Lys602=)
c.1860G>A (p.Lys620=)
c.1656G>A (p.Lys552=)
 gnomAD v4
7g.75986068G>CCA367750733PORc.1590G>C (p.Lys530Asn)
c.1716G>C (p.Lys572Asn)
c.1815G>C (p.Lys605Asn)
c.*117G>C (n.*117G>C)
c.1029G>C (p.Lys343Asn)
c.1966G>C
c.*1120G>C (n.*1120G>C)
n.426G>C
c.1869G>C (p.Lys623Asn)
c.1665G>C (p.Lys555Asn)
c.1806G>C (p.Lys602Asn)
c.1860G>C (p.Lys620Asn)
c.1656G>C (p.Lys552Asn)
7g.75986068G>TCA367750734PORc.1590G>T (p.Lys530Asn)
c.1716G>T (p.Lys572Asn)
c.1815G>T (p.Lys605Asn)
c.*117G>T (n.*117G>T)
c.1029G>T (p.Lys343Asn)
c.1966G>T
c.*1120G>T (n.*1120G>T)
n.426G>T
c.1869G>T (p.Lys623Asn)
c.1665G>T (p.Lys555Asn)
c.1806G>T (p.Lys602Asn)
c.1860G>T (p.Lys620Asn)
c.1656G>T (p.Lys552Asn)
7g.75986069G>ACA367750735PORc.1590+1G>A (n.1590+1G>A)
c.1716+1G>A (n.1716+1G>A)
c.1815+1G>A (n.1815+1G>A)
c.*117+1G>A (n.*117+1G>A)
c.1029+1G>A (n.1029+1G>A)
c.1966+1G>A
c.*1120+1G>A (n.*1120+1G>A)
n.426+1G>A
c.1869+1G>A (n.1869+1G>A)
c.1665+1G>A (n.1665+1G>A)
c.1806+1G>A (n.1806+1G>A)
c.1860+1G>A (n.1860+1G>A)
c.1656+1G>A (n.1656+1G>A)
 gnomAD v3 gnomAD v4
7g.75986069G>CCA367750736PORc.1590+1G>C (n.1590+1G>C)
c.1716+1G>C (n.1716+1G>C)
c.1815+1G>C (n.1815+1G>C)
c.*117+1G>C (n.*117+1G>C)
c.1029+1G>C (n.1029+1G>C)
c.1966+1G>C
c.*1120+1G>C (n.*1120+1G>C)
n.426+1G>C
c.1869+1G>C (n.1869+1G>C)
c.1665+1G>C (n.1665+1G>C)
c.1806+1G>C (n.1806+1G>C)
c.1860+1G>C (n.1860+1G>C)
c.1656+1G>C (n.1656+1G>C)
7g.75986069G>TCA367750737PORc.1590+1G>T (n.1590+1G>T)
c.1716+1G>T (n.1716+1G>T)
c.1815+1G>T (n.1815+1G>T)
c.*117+1G>T (n.*117+1G>T)
c.1029+1G>T (n.1029+1G>T)
c.1966+1G>T
c.*1120+1G>T (n.*1120+1G>T)
n.426+1G>T
c.1869+1G>T (n.1869+1G>T)
c.1665+1G>T (n.1665+1G>T)
c.1806+1G>T (n.1806+1G>T)
c.1860+1G>T (n.1860+1G>T)
c.1656+1G>T (n.1656+1G>T)
7g.75986070T>ACA367750738PORc.1590+2T>A (n.1590+2T>A)
c.1716+2T>A (n.1716+2T>A)
c.1815+2T>A (n.1815+2T>A)
c.*117+2T>A (n.*117+2T>A)
c.1029+2T>A (n.1029+2T>A)
c.1966+2T>A
c.*1120+2T>A (n.*1120+2T>A)
n.426+2T>A
c.1869+2T>A (n.1869+2T>A)
c.1665+2T>A (n.1665+2T>A)
c.1806+2T>A (n.1806+2T>A)
c.1860+2T>A (n.1860+2T>A)
c.1656+2T>A (n.1656+2T>A)
7g.75986070T>CCA367750739PORc.1590+2T>C (n.1590+2T>C)
c.1716+2T>C (n.1716+2T>C)
c.1815+2T>C (n.1815+2T>C)
c.*117+2T>C (n.*117+2T>C)
c.1029+2T>C (n.1029+2T>C)
c.1966+2T>C
c.*1120+2T>C (n.*1120+2T>C)
n.426+2T>C
c.1869+2T>C (n.1869+2T>C)
c.1665+2T>C (n.1665+2T>C)
c.1806+2T>C (n.1806+2T>C)
c.1860+2T>C (n.1860+2T>C)
c.1656+2T>C (n.1656+2T>C)
7g.75986070T>GCA367750740PORc.1590+2T>G (n.1590+2T>G)
c.1716+2T>G (n.1716+2T>G)
c.1815+2T>G (n.1815+2T>G)
c.*117+2T>G (n.*117+2T>G)
c.1029+2T>G (n.1029+2T>G)
c.1966+2T>G
c.*1120+2T>G (n.*1120+2T>G)
n.426+2T>G
c.1869+2T>G (n.1869+2T>G)
c.1665+2T>G (n.1665+2T>G)
c.1806+2T>G (n.1806+2T>G)
c.1860+2T>G (n.1860+2T>G)
c.1656+2T>G (n.1656+2T>G)
7g.75986071G>ACA1718180511PORc.1590+3G>A (n.1590+3G>A)
c.1716+3G>A (n.1716+3G>A)
c.1815+3G>A (n.1815+3G>A)
c.*117+3G>A (n.*117+3G>A)
c.1029+3G>A (n.1029+3G>A)
c.1966+3G>A
c.*1120+3G>A (n.*1120+3G>A)
n.426+3G>A
c.1869+3G>A (n.1869+3G>A)
c.1665+3G>A (n.1665+3G>A)
c.1806+3G>A (n.1806+3G>A)
c.1860+3G>A (n.1860+3G>A)
c.1656+3G>A (n.1656+3G>A)
 dbSNP
7g.75986071G=CA1718180510PORc.1590+3G= (n.1590+3G=)
c.1716+3G= (n.1716+3G=)
c.1815+3G= (n.1815+3G=)
c.*117+3G= (n.*117+3G=)
c.1029+3G= (n.1029+3G=)
c.1966+3G=
c.*1120+3G= (n.*1120+3G=)
n.426+3G=
c.1869+3G= (n.1869+3G=)
c.1665+3G= (n.1665+3G=)
c.1806+3G= (n.1806+3G=)
c.1860+3G= (n.1860+3G=)
c.1656+3G= (n.1656+3G=)
7g.75986072_75986076delCA2683385127PORc.1590+4_1590+8del (n.1590+4_1590+8del)
c.1716+4_1716+8del (n.1716+4_1716+8del)
c.1815+4_1815+8del (n.1815+4_1815+8del)
c.*117+4_*117+8del (n.*117+4_*117+8del)
c.1029+4_1029+8del (n.1029+4_1029+8del)
c.1966+4_1966+8del
c.*1120+4_*1120+8del (n.*1120+4_*1120+8del)
n.426+4_426+8del
c.1869+4_1869+8del (n.1869+4_1869+8del)
c.1665+4_1665+8del (n.1665+4_1665+8del)
c.1806+4_1806+8del (n.1806+4_1806+8del)
c.1860+4_1860+8del (n.1860+4_1860+8del)
c.1656+4_1656+8del (n.1656+4_1656+8del)
 gnomAD v4
7g.75986074A=CA1718180512PORc.1590+6A= (n.1590+6A=)
c.1716+6A= (n.1716+6A=)
c.1815+6A= (n.1815+6A=)
c.*117+6A= (n.*117+6A=)
c.1029+6A= (n.1029+6A=)
c.1966+6A=
c.*1120+6A= (n.*1120+6A=)
n.426+6A=
c.1869+6A= (n.1869+6A=)
c.1665+6A= (n.1665+6A=)
c.1806+6A= (n.1806+6A=)
c.1860+6A= (n.1860+6A=)
c.1656+6A= (n.1656+6A=)
7g.75986074A>GCA2578915517PORc.1590+6A>G (n.1590+6A>G)
c.1716+6A>G (n.1716+6A>G)
c.1815+6A>G (n.1815+6A>G)
c.*117+6A>G (n.*117+6A>G)
c.1029+6A>G (n.1029+6A>G)
c.1966+6A>G
c.*1120+6A>G (n.*1120+6A>G)
n.426+6A>G
c.1869+6A>G (n.1869+6A>G)
c.1665+6A>G (n.1665+6A>G)
c.1806+6A>G (n.1806+6A>G)
c.1860+6A>G (n.1860+6A>G)
c.1656+6A>G (n.1656+6A>G)
7g.75986074A>TCA575786107PORc.1590+6A>T (n.1590+6A>T)
c.1716+6A>T (n.1716+6A>T)
c.1815+6A>T (n.1815+6A>T)
c.*117+6A>T (n.*117+6A>T)
c.1029+6A>T (n.1029+6A>T)
c.1966+6A>T
c.*1120+6A>T (n.*1120+6A>T)
n.426+6A>T
c.1869+6A>T (n.1869+6A>T)
c.1665+6A>T (n.1665+6A>T)
c.1806+6A>T (n.1806+6A>T)
c.1860+6A>T (n.1860+6A>T)
c.1656+6A>T (n.1656+6A>T)
 dbSNP gnomAD v2
7g.75986075C>ACA2683385128PORc.1590+7C>A (n.1590+7C>A)
c.1716+7C>A (n.1716+7C>A)
c.1815+7C>A (n.1815+7C>A)
c.*117+7C>A (n.*117+7C>A)
c.1029+7C>A (n.1029+7C>A)
c.1966+7C>A
c.*1120+7C>A (n.*1120+7C>A)
n.426+7C>A
c.1869+7C>A (n.1869+7C>A)
c.1665+7C>A (n.1665+7C>A)
c.1806+7C>A (n.1806+7C>A)
c.1860+7C>A (n.1860+7C>A)
c.1656+7C>A (n.1656+7C>A)
 gnomAD v4
7g.75986075C=CA1718180513PORc.1590+7C= (n.1590+7C=)
c.1716+7C= (n.1716+7C=)
c.1815+7C= (n.1815+7C=)
c.*117+7C= (n.*117+7C=)
c.1029+7C= (n.1029+7C=)
c.1966+7C=
c.*1120+7C= (n.*1120+7C=)
n.426+7C=
c.1869+7C= (n.1869+7C=)
c.1665+7C= (n.1665+7C=)
c.1806+7C= (n.1806+7C=)
c.1860+7C= (n.1860+7C=)
c.1656+7C= (n.1656+7C=)
7g.75986075C>TCA4304283PORc.1590+7C>T (n.1590+7C>T)
c.1716+7C>T (n.1716+7C>T)
c.1815+7C>T (n.1815+7C>T)
c.*117+7C>T (n.*117+7C>T)
c.1029+7C>T (n.1029+7C>T)
c.1966+7C>T
c.*1120+7C>T (n.*1120+7C>T)
n.426+7C>T
c.1869+7C>T (n.1869+7C>T)
c.1665+7C>T (n.1665+7C>T)
c.1806+7C>T (n.1806+7C>T)
c.1860+7C>T (n.1860+7C>T)
c.1656+7C>T (n.1656+7C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986076G>ACA4304284PORc.1590+8G>A (n.1590+8G>A)
c.1716+8G>A (n.1716+8G>A)
c.1815+8G>A (n.1815+8G>A)
c.*117+8G>A (n.*117+8G>A)
c.1029+8G>A (n.1029+8G>A)
c.1966+8G>A
c.*1120+8G>A (n.*1120+8G>A)
n.426+8G>A
c.1869+8G>A (n.1869+8G>A)
c.1665+8G>A (n.1665+8G>A)
c.1806+8G>A (n.1806+8G>A)
c.1860+8G>A (n.1860+8G>A)
c.1656+8G>A (n.1656+8G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986076G=CA1718180514PORc.1590+8G= (n.1590+8G=)
c.1716+8G= (n.1716+8G=)
c.1815+8G= (n.1815+8G=)
c.*117+8G= (n.*117+8G=)
c.1029+8G= (n.1029+8G=)
c.1966+8G=
c.*1120+8G= (n.*1120+8G=)
n.426+8G=
c.1869+8G= (n.1869+8G=)
c.1665+8G= (n.1665+8G=)
c.1806+8G= (n.1806+8G=)
c.1860+8G= (n.1860+8G=)
c.1656+8G= (n.1656+8G=)
7g.75986076G>TCA2683385129PORc.1590+8G>T (n.1590+8G>T)
c.1716+8G>T (n.1716+8G>T)
c.1815+8G>T (n.1815+8G>T)
c.*117+8G>T (n.*117+8G>T)
c.1029+8G>T (n.1029+8G>T)
c.1966+8G>T
c.*1120+8G>T (n.*1120+8G>T)
n.426+8G>T
c.1869+8G>T (n.1869+8G>T)
c.1665+8G>T (n.1665+8G>T)
c.1806+8G>T (n.1806+8G>T)
c.1860+8G>T (n.1860+8G>T)
c.1656+8G>T (n.1656+8G>T)
 gnomAD v4
7g.75986077G>CCA2739266482PORc.1590+9G>C (n.1590+9G>C)
c.1716+9G>C (n.1716+9G>C)
c.1815+9G>C (n.1815+9G>C)
c.*117+9G>C (n.*117+9G>C)
c.1029+9G>C (n.1029+9G>C)
c.1966+9G>C
c.*1120+9G>C (n.*1120+9G>C)
n.426+9G>C
c.1869+9G>C (n.1869+9G>C)
c.1665+9G>C (n.1665+9G>C)
c.1806+9G>C (n.1806+9G>C)
c.1860+9G>C (n.1860+9G>C)
c.1656+9G>C (n.1656+9G>C)
 ClinVar
7g.75986078G>TCA2600195605PORc.1590+10G>T (n.1590+10G>T)
c.1716+10G>T (n.1716+10G>T)
c.1815+10G>T (n.1815+10G>T)
c.*117+10G>T (n.*117+10G>T)
c.1029+10G>T (n.1029+10G>T)
c.1966+10G>T
c.*1120+10G>T (n.*1120+10G>T)
n.426+10G>T
c.1869+10G>T (n.1869+10G>T)
c.1665+10G>T (n.1665+10G>T)
c.1806+10G>T (n.1806+10G>T)
c.1860+10G>T (n.1860+10G>T)
c.1656+10G>T (n.1656+10G>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.75986079C=CA1718180515PORc.1590+11C= (n.1590+11C=)
c.1716+11C= (n.1716+11C=)
c.1815+11C= (n.1815+11C=)
c.*117+11C= (n.*117+11C=)
c.1029+11C= (n.1029+11C=)
c.1966+11C=
c.*1120+11C= (n.*1120+11C=)
n.426+11C=
c.1869+11C= (n.1869+11C=)
c.1665+11C= (n.1665+11C=)
c.1806+11C= (n.1806+11C=)
c.1860+11C= (n.1860+11C=)
c.1656+11C= (n.1656+11C=)
7g.75986079C>TCA4304285PORc.1590+11C>T (n.1590+11C>T)
c.1716+11C>T (n.1716+11C>T)
c.1815+11C>T (n.1815+11C>T)
c.*117+11C>T (n.*117+11C>T)
c.1029+11C>T (n.1029+11C>T)
c.1966+11C>T
c.*1120+11C>T (n.*1120+11C>T)
n.426+11C>T
c.1869+11C>T (n.1869+11C>T)
c.1665+11C>T (n.1665+11C>T)
c.1806+11C>T (n.1806+11C>T)
c.1860+11C>T (n.1860+11C>T)
c.1656+11C>T (n.1656+11C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986080G>ACA4304286PORc.1590+12G>A (n.1590+12G>A)
c.1716+12G>A (n.1716+12G>A)
c.1815+12G>A (n.1815+12G>A)
c.*117+12G>A (n.*117+12G>A)
c.1029+12G>A (n.1029+12G>A)
c.1966+12G>A
c.*1120+12G>A (n.*1120+12G>A)
n.426+12G>A
c.1869+12G>A (n.1869+12G>A)
c.1665+12G>A (n.1665+12G>A)
c.1806+12G>A (n.1806+12G>A)
c.1860+12G>A (n.1860+12G>A)
c.1656+12G>A (n.1656+12G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.75986080G=CA1718180516PORc.1590+12G= (n.1590+12G=)
c.1716+12G= (n.1716+12G=)
c.1815+12G= (n.1815+12G=)
c.*117+12G= (n.*117+12G=)
c.1029+12G= (n.1029+12G=)
c.1966+12G=
c.*1120+12G= (n.*1120+12G=)
n.426+12G=
c.1869+12G= (n.1869+12G=)
c.1665+12G= (n.1665+12G=)
c.1806+12G= (n.1806+12G=)
c.1860+12G= (n.1860+12G=)
c.1656+12G= (n.1656+12G=)
7g.75986080G>TCA2683385130PORc.1590+12G>T (n.1590+12G>T)
c.1716+12G>T (n.1716+12G>T)
c.1815+12G>T (n.1815+12G>T)
c.*117+12G>T (n.*117+12G>T)
c.1029+12G>T (n.1029+12G>T)
c.1966+12G>T
c.*1120+12G>T (n.*1120+12G>T)
n.426+12G>T
c.1869+12G>T (n.1869+12G>T)
c.1665+12G>T (n.1665+12G>T)
c.1806+12G>T (n.1806+12G>T)
c.1860+12G>T (n.1860+12G>T)
c.1656+12G>T (n.1656+12G>T)
 gnomAD v4
7g.75986082G>ACA575786109PORc.1590+14G>A (n.1590+14G>A)
c.1716+14G>A (n.1716+14G>A)
c.1815+14G>A (n.1815+14G>A)
c.*117+14G>A (n.*117+14G>A)
c.1029+14G>A (n.1029+14G>A)
c.1966+14G>A
c.*1120+14G>A (n.*1120+14G>A)
n.426+14G>A
c.1869+14G>A (n.1869+14G>A)
c.1665+14G>A (n.1665+14G>A)
c.1806+14G>A (n.1806+14G>A)
c.1860+14G>A (n.1860+14G>A)
c.1656+14G>A (n.1656+14G>A)
 dbSNP gnomAD v2 gnomAD v4
7g.75986082G=CA1718180517PORc.1590+14G= (n.1590+14G=)
c.1716+14G= (n.1716+14G=)
c.1815+14G= (n.1815+14G=)
c.*117+14G= (n.*117+14G=)
c.1029+14G= (n.1029+14G=)
c.1966+14G=
c.*1120+14G= (n.*1120+14G=)
n.426+14G=
c.1869+14G= (n.1869+14G=)
c.1665+14G= (n.1665+14G=)
c.1806+14G= (n.1806+14G=)
c.1860+14G= (n.1860+14G=)
c.1656+14G= (n.1656+14G=)
7g.75986082G>TCA2776541724PORc.1590+14G>T (n.1590+14G>T)
c.1716+14G>T (n.1716+14G>T)
c.1815+14G>T (n.1815+14G>T)
c.*117+14G>T (n.*117+14G>T)
c.1029+14G>T (n.1029+14G>T)
c.1966+14G>T
c.*1120+14G>T (n.*1120+14G>T)
n.426+14G>T
c.1869+14G>T (n.1869+14G>T)
c.1665+14G>T (n.1665+14G>T)
c.1806+14G>T (n.1806+14G>T)
c.1860+14G>T (n.1860+14G>T)
c.1656+14G>T (n.1656+14G>T)
7g.75986083C>ACA2683385131PORc.1590+15C>A (n.1590+15C>A)
c.1716+15C>A (n.1716+15C>A)
c.1815+15C>A (n.1815+15C>A)
c.*117+15C>A (n.*117+15C>A)
c.1029+15C>A (n.1029+15C>A)
c.1966+15C>A
c.*1120+15C>A (n.*1120+15C>A)
n.426+15C>A
c.1869+15C>A (n.1869+15C>A)
c.1665+15C>A (n.1665+15C>A)
c.1806+15C>A (n.1806+15C>A)
c.1860+15C>A (n.1860+15C>A)
c.1656+15C>A (n.1656+15C>A)
 ClinVar gnomAD v4
7g.75986083C>GCA2739266483PORc.1590+15C>G (n.1590+15C>G)
c.1716+15C>G (n.1716+15C>G)
c.1815+15C>G (n.1815+15C>G)
c.*117+15C>G (n.*117+15C>G)
c.1029+15C>G (n.1029+15C>G)
c.1966+15C>G
c.*1120+15C>G (n.*1120+15C>G)
n.426+15C>G
c.1869+15C>G (n.1869+15C>G)
c.1665+15C>G (n.1665+15C>G)
c.1806+15C>G (n.1806+15C>G)
c.1860+15C>G (n.1860+15C>G)
c.1656+15C>G (n.1656+15C>G)
 ClinVar
7g.75986083C>TCA2578915518PORc.1590+15C>T (n.1590+15C>T)
c.1716+15C>T (n.1716+15C>T)
c.1815+15C>T (n.1815+15C>T)
c.*117+15C>T (n.*117+15C>T)
c.1029+15C>T (n.1029+15C>T)
c.1966+15C>T
c.*1120+15C>T (n.*1120+15C>T)
n.426+15C>T
c.1869+15C>T (n.1869+15C>T)
c.1665+15C>T (n.1665+15C>T)
c.1806+15C>T (n.1806+15C>T)
c.1860+15C>T (n.1860+15C>T)
c.1656+15C>T (n.1656+15C>T)
 gnomAD v4
7g.75986085C>TCA2683385132PORc.1590+17C>T (n.1590+17C>T)
c.1716+17C>T (n.1716+17C>T)
c.1815+17C>T (n.1815+17C>T)
c.*117+17C>T (n.*117+17C>T)
c.1029+17C>T (n.1029+17C>T)
c.1966+17C>T
c.*1120+17C>T (n.*1120+17C>T)
n.426+17C>T
c.1869+17C>T (n.1869+17C>T)
c.1665+17C>T (n.1665+17C>T)
c.1806+17C>T (n.1806+17C>T)
c.1860+17C>T (n.1860+17C>T)
c.1656+17C>T (n.1656+17C>T)
 gnomAD v4
7g.75986086C>ACA575786110PORc.1590+18C>A (n.1590+18C>A)
c.1716+18C>A (n.1716+18C>A)
c.1815+18C>A (n.1815+18C>A)
c.*117+18C>A (n.*117+18C>A)
c.1029+18C>A (n.1029+18C>A)
c.1966+18C>A
c.*1120+18C>A (n.*1120+18C>A)
n.426+18C>A
c.1869+18C>A (n.1869+18C>A)
c.1665+18C>A (n.1665+18C>A)
c.1806+18C>A (n.1806+18C>A)
c.1860+18C>A (n.1860+18C>A)
c.1656+18C>A (n.1656+18C>A)
 dbSNP gnomAD v2 gnomAD v4
7g.75986086C=CA1718180518PORc.1590+18C= (n.1590+18C=)
c.1716+18C= (n.1716+18C=)
c.1815+18C= (n.1815+18C=)
c.*117+18C= (n.*117+18C=)
c.1029+18C= (n.1029+18C=)
c.1966+18C=
c.*1120+18C= (n.*1120+18C=)
n.426+18C=
c.1869+18C= (n.1869+18C=)
c.1665+18C= (n.1665+18C=)
c.1806+18C= (n.1806+18C=)
c.1860+18C= (n.1860+18C=)
c.1656+18C= (n.1656+18C=)
7g.75986086C>TCA2683385133PORc.1590+18C>T (n.1590+18C>T)
c.1716+18C>T (n.1716+18C>T)
c.1815+18C>T (n.1815+18C>T)
c.*117+18C>T (n.*117+18C>T)
c.1029+18C>T (n.1029+18C>T)
c.1966+18C>T
c.*1120+18C>T (n.*1120+18C>T)
n.426+18C>T
c.1869+18C>T (n.1869+18C>T)
c.1665+18C>T (n.1665+18C>T)
c.1806+18C>T (n.1806+18C>T)
c.1860+18C>T (n.1860+18C>T)
c.1656+18C>T (n.1656+18C>T)
 gnomAD v4
7g.75986087C>ACA2683385134PORc.1590+19C>A (n.1590+19C>A)
c.1716+19C>A (n.1716+19C>A)
c.1815+19C>A (n.1815+19C>A)
c.*117+19C>A (n.*117+19C>A)
c.1029+19C>A (n.1029+19C>A)
c.1966+19C>A
c.*1120+19C>A (n.*1120+19C>A)
n.426+19C>A
c.1869+19C>A (n.1869+19C>A)
c.1665+19C>A (n.1665+19C>A)
c.1806+19C>A (n.1806+19C>A)
c.1860+19C>A (n.1860+19C>A)
c.1656+19C>A (n.1656+19C>A)
 gnomAD v4

Number of alleles fetched