Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.86718003T>ACA470308655LDB3n.515-724T>A
c.1527T>A (p.Pro509=)
c.1575T>A (p.Pro525=)
c.1716T>A (p.Pro572=)
c.1386T>A (p.Pro462=)
c.1731T>A (p.Pro577=)
c.1968T>A (p.Pro656=)
c.1920T>A (p.Pro640=)
c.1779T>A (p.Pro593=)
c.1764T>A (p.Pro588=)
c.1623T>A (p.Pro541=)
c.1434T>A (p.Pro478=)
c.1419T>A (p.Pro473=)
c.924T>A (p.Pro308=)
c.735T>A (p.Pro245=)
 ClinVar
10g.86718003T>CCA470308657LDB3n.515-724T>C
c.1527T>C (p.Pro509=)
c.1575T>C (p.Pro525=)
c.1716T>C (p.Pro572=)
c.1386T>C (p.Pro462=)
c.1731T>C (p.Pro577=)
c.1968T>C (p.Pro656=)
c.1920T>C (p.Pro640=)
c.1779T>C (p.Pro593=)
c.1764T>C (p.Pro588=)
c.1623T>C (p.Pro541=)
c.1434T>C (p.Pro478=)
c.1419T>C (p.Pro473=)
c.924T>C (p.Pro308=)
c.735T>C (p.Pro245=)
10g.86718003T>GCA470308654LDB3n.515-724T>G
c.1527T>G (p.Pro509=)
c.1575T>G (p.Pro525=)
c.1716T>G (p.Pro572=)
c.1386T>G (p.Pro462=)
c.1731T>G (p.Pro577=)
c.1968T>G (p.Pro656=)
c.1920T>G (p.Pro640=)
c.1779T>G (p.Pro593=)
c.1764T>G (p.Pro588=)
c.1623T>G (p.Pro541=)
c.1434T>G (p.Pro478=)
c.1419T>G (p.Pro473=)
c.924T>G (p.Pro308=)
c.735T>G (p.Pro245=)
10g.86718004G>ACA377451926LDB3n.515-723G>A
c.1528G>A (p.Glu510Lys)
c.1576G>A (p.Glu526Lys)
c.1717G>A (p.Glu573Lys)
c.1387G>A (p.Glu463Lys)
c.1732G>A (p.Glu578Lys)
c.1969G>A (p.Glu657Lys)
c.1921G>A (p.Glu641Lys)
c.1780G>A (p.Glu594Lys)
c.1765G>A (p.Glu589Lys)
c.1624G>A (p.Glu542Lys)
c.1435G>A (p.Glu479Lys)
c.1420G>A (p.Glu474Lys)
c.925G>A (p.Glu309Lys)
c.736G>A (p.Glu246Lys)
10g.86718004G>CCA377451928LDB3n.515-723G>C
c.1528G>C (p.Glu510Gln)
c.1576G>C (p.Glu526Gln)
c.1717G>C (p.Glu573Gln)
c.1387G>C (p.Glu463Gln)
c.1732G>C (p.Glu578Gln)
c.1969G>C (p.Glu657Gln)
c.1921G>C (p.Glu641Gln)
c.1780G>C (p.Glu594Gln)
c.1765G>C (p.Glu589Gln)
c.1624G>C (p.Glu542Gln)
c.1435G>C (p.Glu479Gln)
c.1420G>C (p.Glu474Gln)
c.925G>C (p.Glu309Gln)
c.736G>C (p.Glu246Gln)
10g.86718004G>TCA377451929LDB3n.515-723G>T
c.1528G>T (p.Glu510Ter)
c.1576G>T (p.Glu526Ter)
c.1717G>T (p.Glu573Ter)
c.1387G>T (p.Glu463Ter)
c.1732G>T (p.Glu578Ter)
c.1969G>T (p.Glu657Ter)
c.1921G>T (p.Glu641Ter)
c.1780G>T (p.Glu594Ter)
c.1765G>T (p.Glu589Ter)
c.1624G>T (p.Glu542Ter)
c.1435G>T (p.Glu479Ter)
c.1420G>T (p.Glu474Ter)
c.925G>T (p.Glu309Ter)
c.736G>T (p.Glu246Ter)
10g.86718005A>CCA377451931LDB3n.515-722A>C
c.1529A>C (p.Glu510Ala)
c.1577A>C (p.Glu526Ala)
c.1718A>C (p.Glu573Ala)
c.1388A>C (p.Glu463Ala)
c.1733A>C (p.Glu578Ala)
c.1970A>C (p.Glu657Ala)
c.1922A>C (p.Glu641Ala)
c.1781A>C (p.Glu594Ala)
c.1766A>C (p.Glu589Ala)
c.1625A>C (p.Glu542Ala)
c.1436A>C (p.Glu479Ala)
c.1421A>C (p.Glu474Ala)
c.926A>C (p.Glu309Ala)
c.737A>C (p.Glu246Ala)
10g.86718005A>GCA377451934LDB3n.515-722A>G
c.1529A>G (p.Glu510Gly)
c.1577A>G (p.Glu526Gly)
c.1718A>G (p.Glu573Gly)
c.1388A>G (p.Glu463Gly)
c.1733A>G (p.Glu578Gly)
c.1970A>G (p.Glu657Gly)
c.1922A>G (p.Glu641Gly)
c.1781A>G (p.Glu594Gly)
c.1766A>G (p.Glu589Gly)
c.1625A>G (p.Glu542Gly)
c.1436A>G (p.Glu479Gly)
c.1421A>G (p.Glu474Gly)
c.926A>G (p.Glu309Gly)
c.737A>G (p.Glu246Gly)
10g.86718005A>TCA377451932LDB3n.515-722A>T
c.1529A>T (p.Glu510Val)
c.1577A>T (p.Glu526Val)
c.1718A>T (p.Glu573Val)
c.1388A>T (p.Glu463Val)
c.1733A>T (p.Glu578Val)
c.1970A>T (p.Glu657Val)
c.1922A>T (p.Glu641Val)
c.1781A>T (p.Glu594Val)
c.1766A>T (p.Glu589Val)
c.1625A>T (p.Glu542Val)
c.1436A>T (p.Glu479Val)
c.1421A>T (p.Glu474Val)
c.926A>T (p.Glu309Val)
c.737A>T (p.Glu246Val)
10g.86718006A=CA1925632481LDB3n.515-721A=
c.1530A= (p.Glu510=)
c.1578A= (p.Glu526=)
c.1719A= (p.Glu573=)
c.1389A= (p.Glu463=)
c.1734A= (p.Glu578=)
c.1971A= (p.Glu657=)
c.1923A= (p.Glu641=)
c.1782A= (p.Glu594=)
c.1767A= (p.Glu589=)
c.1626A= (p.Glu542=)
c.1437A= (p.Glu479=)
c.1422A= (p.Glu474=)
c.927A= (p.Glu309=)
c.738A= (p.Glu246=)
10g.86718006A>CCA377451936LDB3n.515-721A>C
c.1530A>C (p.Glu510Asp)
c.1578A>C (p.Glu526Asp)
c.1719A>C (p.Glu573Asp)
c.1389A>C (p.Glu463Asp)
c.1734A>C (p.Glu578Asp)
c.1971A>C (p.Glu657Asp)
c.1923A>C (p.Glu641Asp)
c.1782A>C (p.Glu594Asp)
c.1767A>C (p.Glu589Asp)
c.1626A>C (p.Glu542Asp)
c.1437A>C (p.Glu479Asp)
c.1422A>C (p.Glu474Asp)
c.927A>C (p.Glu309Asp)
c.738A>C (p.Glu246Asp)
10g.86718006A>GCA470308659LDB3n.515-721A>G
c.1530A>G (p.Glu510=)
c.1578A>G (p.Glu526=)
c.1719A>G (p.Glu573=)
c.1389A>G (p.Glu463=)
c.1734A>G (p.Glu578=)
c.1971A>G (p.Glu657=)
c.1923A>G (p.Glu641=)
c.1782A>G (p.Glu594=)
c.1767A>G (p.Glu589=)
c.1626A>G (p.Glu542=)
c.1437A>G (p.Glu479=)
c.1422A>G (p.Glu474=)
c.927A>G (p.Glu309=)
c.738A>G (p.Glu246=)
 dbSNP
10g.86718006A>TCA377451938LDB3n.515-721A>T
c.1530A>T (p.Glu510Asp)
c.1578A>T (p.Glu526Asp)
c.1719A>T (p.Glu573Asp)
c.1389A>T (p.Glu463Asp)
c.1734A>T (p.Glu578Asp)
c.1971A>T (p.Glu657Asp)
c.1923A>T (p.Glu641Asp)
c.1782A>T (p.Glu594Asp)
c.1767A>T (p.Glu589Asp)
c.1626A>T (p.Glu542Asp)
c.1437A>T (p.Glu479Asp)
c.1422A>T (p.Glu474Asp)
c.927A>T (p.Glu309Asp)
c.738A>T (p.Glu246Asp)
10g.86718006_86718007insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCCCA2788863800LDB3n.515-721_515-720insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC
c.1530_1531insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu511ProfsTer16)
c.1578_1579insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu527ProfsTer16)
c.1719_1720insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu574ProfsTer16)
c.1389_1390insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu464ProfsTer16)
c.1734_1735insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu579ProfsTer16)
c.1971_1972insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu658ProfsTer16)
c.1923_1924insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu642ProfsTer16)
c.1782_1783insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu595ProfsTer16)
c.1767_1768insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu590ProfsTer16)
c.1626_1627insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu543ProfsTer16)
c.1437_1438insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu480ProfsTer16)
c.1422_1423insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu475ProfsTer16)
c.927_928insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu310ProfsTer16)
c.738_739insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC (p.Glu247ProfsTer16)
10g.86718007G>ACA211209149LDB3n.515-720G>A
c.1531G>A (p.Glu511Lys)
c.1579G>A (p.Glu527Lys)
c.1720G>A (p.Glu574Lys)
c.1390G>A (p.Glu464Lys)
c.1735G>A (p.Glu579Lys)
c.1972G>A (p.Glu658Lys)
c.1924G>A (p.Glu642Lys)
c.1783G>A (p.Glu595Lys)
c.1768G>A (p.Glu590Lys)
c.1627G>A (p.Glu543Lys)
c.1438G>A (p.Glu480Lys)
c.1423G>A (p.Glu475Lys)
c.928G>A (p.Glu310Lys)
c.739G>A (p.Glu247Lys)
 dbSNP
10g.86718007G>CCA377451940LDB3n.515-720G>C
c.1531G>C (p.Glu511Gln)
c.1579G>C (p.Glu527Gln)
c.1720G>C (p.Glu574Gln)
c.1390G>C (p.Glu464Gln)
c.1735G>C (p.Glu579Gln)
c.1972G>C (p.Glu658Gln)
c.1924G>C (p.Glu642Gln)
c.1783G>C (p.Glu595Gln)
c.1768G>C (p.Glu590Gln)
c.1627G>C (p.Glu543Gln)
c.1438G>C (p.Glu480Gln)
c.1423G>C (p.Glu475Gln)
c.928G>C (p.Glu310Gln)
c.739G>C (p.Glu247Gln)
10g.86718007G=CA1925632482LDB3n.515-720G=
c.1531G= (p.Glu511=)
c.1579G= (p.Glu527=)
c.1720G= (p.Glu574=)
c.1390G= (p.Glu464=)
c.1735G= (p.Glu579=)
c.1972G= (p.Glu658=)
c.1924G= (p.Glu642=)
c.1783G= (p.Glu595=)
c.1768G= (p.Glu590=)
c.1627G= (p.Glu543=)
c.1438G= (p.Glu480=)
c.1423G= (p.Glu475=)
c.928G= (p.Glu310=)
c.739G= (p.Glu247=)
10g.86718007G>TCA377451942LDB3n.515-720G>T
c.1531G>T (p.Glu511Ter)
c.1579G>T (p.Glu527Ter)
c.1720G>T (p.Glu574Ter)
c.1390G>T (p.Glu464Ter)
c.1735G>T (p.Glu579Ter)
c.1972G>T (p.Glu658Ter)
c.1924G>T (p.Glu642Ter)
c.1783G>T (p.Glu595Ter)
c.1768G>T (p.Glu590Ter)
c.1627G>T (p.Glu543Ter)
c.1438G>T (p.Glu480Ter)
c.1423G>T (p.Glu475Ter)
c.928G>T (p.Glu310Ter)
c.739G>T (p.Glu247Ter)
 COSMIC COSMIC
10g.86718008A>CCA377451943LDB3n.515-719A>C
c.1532A>C (p.Glu511Ala)
c.1580A>C (p.Glu527Ala)
c.1721A>C (p.Glu574Ala)
c.1391A>C (p.Glu464Ala)
c.1736A>C (p.Glu579Ala)
c.1973A>C (p.Glu658Ala)
c.1925A>C (p.Glu642Ala)
c.1784A>C (p.Glu595Ala)
c.1769A>C (p.Glu590Ala)
c.1628A>C (p.Glu543Ala)
c.1439A>C (p.Glu480Ala)
c.1424A>C (p.Glu475Ala)
c.929A>C (p.Glu310Ala)
c.740A>C (p.Glu247Ala)
10g.86718008A>GCA377451944LDB3n.515-719A>G
c.1532A>G (p.Glu511Gly)
c.1580A>G (p.Glu527Gly)
c.1721A>G (p.Glu574Gly)
c.1391A>G (p.Glu464Gly)
c.1736A>G (p.Glu579Gly)
c.1973A>G (p.Glu658Gly)
c.1925A>G (p.Glu642Gly)
c.1784A>G (p.Glu595Gly)
c.1769A>G (p.Glu590Gly)
c.1628A>G (p.Glu543Gly)
c.1439A>G (p.Glu480Gly)
c.1424A>G (p.Glu475Gly)
c.929A>G (p.Glu310Gly)
c.740A>G (p.Glu247Gly)
10g.86718008A>TCA377451946LDB3n.515-719A>T
c.1532A>T (p.Glu511Val)
c.1580A>T (p.Glu527Val)
c.1721A>T (p.Glu574Val)
c.1391A>T (p.Glu464Val)
c.1736A>T (p.Glu579Val)
c.1973A>T (p.Glu658Val)
c.1925A>T (p.Glu642Val)
c.1784A>T (p.Glu595Val)
c.1769A>T (p.Glu590Val)
c.1628A>T (p.Glu543Val)
c.1439A>T (p.Glu480Val)
c.1424A>T (p.Glu475Val)
c.929A>T (p.Glu310Val)
c.740A>T (p.Glu247Val)
10g.86718009G>ACA470308663LDB3n.515-718G>A
c.1533G>A (p.Glu511=)
c.1581G>A (p.Glu527=)
c.1722G>A (p.Glu574=)
c.1392G>A (p.Glu464=)
c.1737G>A (p.Glu579=)
c.1974G>A (p.Glu658=)
c.1926G>A (p.Glu642=)
c.1785G>A (p.Glu595=)
c.1770G>A (p.Glu590=)
c.1629G>A (p.Glu543=)
c.1440G>A (p.Glu480=)
c.1425G>A (p.Glu475=)
c.930G>A (p.Glu310=)
c.741G>A (p.Glu247=)
 dbSNP
10g.86718009G>CCA377451948LDB3n.515-718G>C
c.1533G>C (p.Glu511Asp)
c.1581G>C (p.Glu527Asp)
c.1722G>C (p.Glu574Asp)
c.1392G>C (p.Glu464Asp)
c.1737G>C (p.Glu579Asp)
c.1974G>C (p.Glu658Asp)
c.1926G>C (p.Glu642Asp)
c.1785G>C (p.Glu595Asp)
c.1770G>C (p.Glu590Asp)
c.1629G>C (p.Glu543Asp)
c.1440G>C (p.Glu480Asp)
c.1425G>C (p.Glu475Asp)
c.930G>C (p.Glu310Asp)
c.741G>C (p.Glu247Asp)
 gnomAD v4
10g.86718009G=CA1925632483LDB3n.515-718G=
c.1533G= (p.Glu511=)
c.1581G= (p.Glu527=)
c.1722G= (p.Glu574=)
c.1392G= (p.Glu464=)
c.1737G= (p.Glu579=)
c.1974G= (p.Glu658=)
c.1926G= (p.Glu642=)
c.1785G= (p.Glu595=)
c.1770G= (p.Glu590=)
c.1629G= (p.Glu543=)
c.1440G= (p.Glu480=)
c.1425G= (p.Glu475=)
c.930G= (p.Glu310=)
c.741G= (p.Glu247=)
10g.86718009G>TCA377451950LDB3n.515-718G>T
c.1533G>T (p.Glu511Asp)
c.1581G>T (p.Glu527Asp)
c.1722G>T (p.Glu574Asp)
c.1392G>T (p.Glu464Asp)
c.1737G>T (p.Glu579Asp)
c.1974G>T (p.Glu658Asp)
c.1926G>T (p.Glu642Asp)
c.1785G>T (p.Glu595Asp)
c.1770G>T (p.Glu590Asp)
c.1629G>T (p.Glu543Asp)
c.1440G>T (p.Glu480Asp)
c.1425G>T (p.Glu475Asp)
c.930G>T (p.Glu310Asp)
c.741G>T (p.Glu247Asp)
10g.86718010T>ACA377451954LDB3n.515-717T>A
c.1534T>A (p.Phe512Ile)
c.1582T>A (p.Phe528Ile)
c.1723T>A (p.Phe575Ile)
c.1393T>A (p.Phe465Ile)
c.1738T>A (p.Phe580Ile)
c.1975T>A (p.Phe659Ile)
c.1927T>A (p.Phe643Ile)
c.1786T>A (p.Phe596Ile)
c.1771T>A (p.Phe591Ile)
c.1630T>A (p.Phe544Ile)
c.1441T>A (p.Phe481Ile)
c.1426T>A (p.Phe476Ile)
c.931T>A (p.Phe311Ile)
c.742T>A (p.Phe248Ile)
 ClinVar dbSNP gnomAD v4
10g.86718010T>CCA377451952LDB3n.515-717T>C
c.1534T>C (p.Phe512Leu)
c.1582T>C (p.Phe528Leu)
c.1723T>C (p.Phe575Leu)
c.1393T>C (p.Phe465Leu)
c.1738T>C (p.Phe580Leu)
c.1975T>C (p.Phe659Leu)
c.1927T>C (p.Phe643Leu)
c.1786T>C (p.Phe596Leu)
c.1771T>C (p.Phe591Leu)
c.1630T>C (p.Phe544Leu)
c.1441T>C (p.Phe481Leu)
c.1426T>C (p.Phe476Leu)
c.931T>C (p.Phe311Leu)
c.742T>C (p.Phe248Leu)
10g.86718010T>GCA377451951LDB3n.515-717T>G
c.1534T>G (p.Phe512Val)
c.1582T>G (p.Phe528Val)
c.1723T>G (p.Phe575Val)
c.1393T>G (p.Phe465Val)
c.1738T>G (p.Phe580Val)
c.1975T>G (p.Phe659Val)
c.1927T>G (p.Phe643Val)
c.1786T>G (p.Phe596Val)
c.1771T>G (p.Phe591Val)
c.1630T>G (p.Phe544Val)
c.1441T>G (p.Phe481Val)
c.1426T>G (p.Phe476Val)
c.931T>G (p.Phe311Val)
c.742T>G (p.Phe248Val)
10g.86718010T=CA1925632484LDB3n.515-717T=
c.1534T= (p.Phe512=)
c.1582T= (p.Phe528=)
c.1723T= (p.Phe575=)
c.1393T= (p.Phe465=)
c.1738T= (p.Phe580=)
c.1975T= (p.Phe659=)
c.1927T= (p.Phe643=)
c.1786T= (p.Phe596=)
c.1771T= (p.Phe591=)
c.1630T= (p.Phe544=)
c.1441T= (p.Phe481=)
c.1426T= (p.Phe476=)
c.931T= (p.Phe311=)
c.742T= (p.Phe248=)
10g.86718011T>ACA377451956LDB3n.515-716T>A
c.1535T>A (p.Phe512Tyr)
c.1583T>A (p.Phe528Tyr)
c.1724T>A (p.Phe575Tyr)
c.1394T>A (p.Phe465Tyr)
c.1739T>A (p.Phe580Tyr)
c.1976T>A (p.Phe659Tyr)
c.1928T>A (p.Phe643Tyr)
c.1787T>A (p.Phe596Tyr)
c.1772T>A (p.Phe591Tyr)
c.1631T>A (p.Phe544Tyr)
c.1442T>A (p.Phe481Tyr)
c.1427T>A (p.Phe476Tyr)
c.932T>A (p.Phe311Tyr)
c.743T>A (p.Phe248Tyr)
10g.86718011T>CCA377451958LDB3n.515-716T>C
c.1535T>C (p.Phe512Ser)
c.1583T>C (p.Phe528Ser)
c.1724T>C (p.Phe575Ser)
c.1394T>C (p.Phe465Ser)
c.1739T>C (p.Phe580Ser)
c.1976T>C (p.Phe659Ser)
c.1928T>C (p.Phe643Ser)
c.1787T>C (p.Phe596Ser)
c.1772T>C (p.Phe591Ser)
c.1631T>C (p.Phe544Ser)
c.1442T>C (p.Phe481Ser)
c.1427T>C (p.Phe476Ser)
c.932T>C (p.Phe311Ser)
c.743T>C (p.Phe248Ser)
10g.86718011T>GCA377451959LDB3n.515-716T>G
c.1535T>G (p.Phe512Cys)
c.1583T>G (p.Phe528Cys)
c.1724T>G (p.Phe575Cys)
c.1394T>G (p.Phe465Cys)
c.1739T>G (p.Phe580Cys)
c.1976T>G (p.Phe659Cys)
c.1928T>G (p.Phe643Cys)
c.1787T>G (p.Phe596Cys)
c.1772T>G (p.Phe591Cys)
c.1631T>G (p.Phe544Cys)
c.1442T>G (p.Phe481Cys)
c.1427T>G (p.Phe476Cys)
c.932T>G (p.Phe311Cys)
c.743T>G (p.Phe248Cys)
10g.86718012C>ACA377451961LDB3n.515-715C>A
c.1536C>A (p.Phe512Leu)
c.1584C>A (p.Phe528Leu)
c.1725C>A (p.Phe575Leu)
c.1395C>A (p.Phe465Leu)
c.1740C>A (p.Phe580Leu)
c.1977C>A (p.Phe659Leu)
c.1929C>A (p.Phe643Leu)
c.1788C>A (p.Phe596Leu)
c.1773C>A (p.Phe591Leu)
c.1632C>A (p.Phe544Leu)
c.1443C>A (p.Phe481Leu)
c.1428C>A (p.Phe476Leu)
c.933C>A (p.Phe311Leu)
c.744C>A (p.Phe248Leu)
10g.86718012C=CA1925632485LDB3n.515-715C=
c.1536C= (p.Phe512=)
c.1584C= (p.Phe528=)
c.1725C= (p.Phe575=)
c.1395C= (p.Phe465=)
c.1740C= (p.Phe580=)
c.1977C= (p.Phe659=)
c.1929C= (p.Phe643=)
c.1788C= (p.Phe596=)
c.1773C= (p.Phe591=)
c.1632C= (p.Phe544=)
c.1443C= (p.Phe481=)
c.1428C= (p.Phe476=)
c.933C= (p.Phe311=)
c.744C= (p.Phe248=)
10g.86718012C>GCA377451963LDB3n.515-715C>G
c.1536C>G (p.Phe512Leu)
c.1584C>G (p.Phe528Leu)
c.1725C>G (p.Phe575Leu)
c.1395C>G (p.Phe465Leu)
c.1740C>G (p.Phe580Leu)
c.1977C>G (p.Phe659Leu)
c.1929C>G (p.Phe643Leu)
c.1788C>G (p.Phe596Leu)
c.1773C>G (p.Phe591Leu)
c.1632C>G (p.Phe544Leu)
c.1443C>G (p.Phe481Leu)
c.1428C>G (p.Phe476Leu)
c.933C>G (p.Phe311Leu)
c.744C>G (p.Phe248Leu)
10g.86718012C>TCA5585222LDB3n.515-715C>T
c.1536C>T (p.Phe512=)
c.1584C>T (p.Phe528=)
c.1725C>T (p.Phe575=)
c.1395C>T (p.Phe465=)
c.1740C>T (p.Phe580=)
c.1977C>T (p.Phe659=)
c.1929C>T (p.Phe643=)
c.1788C>T (p.Phe596=)
c.1773C>T (p.Phe591=)
c.1632C>T (p.Phe544=)
c.1443C>T (p.Phe481=)
c.1428C>T (p.Phe476=)
c.933C>T (p.Phe311=)
c.744C>T (p.Phe248=)
 ClinVar dbSNP ExAC gnomAD v4
10g.86718013A>CCA377451965LDB3n.515-714A>C
c.1537A>C (p.Thr513Pro)
c.1585A>C (p.Thr529Pro)
c.1726A>C (p.Thr576Pro)
c.1396A>C (p.Thr466Pro)
c.1741A>C (p.Thr581Pro)
c.1978A>C (p.Thr660Pro)
c.1930A>C (p.Thr644Pro)
c.1789A>C (p.Thr597Pro)
c.1774A>C (p.Thr592Pro)
c.1633A>C (p.Thr545Pro)
c.1444A>C (p.Thr482Pro)
c.1429A>C (p.Thr477Pro)
c.934A>C (p.Thr312Pro)
c.745A>C (p.Thr249Pro)
10g.86718013A>GCA377451967LDB3n.515-714A>G
c.1537A>G (p.Thr513Ala)
c.1585A>G (p.Thr529Ala)
c.1726A>G (p.Thr576Ala)
c.1396A>G (p.Thr466Ala)
c.1741A>G (p.Thr581Ala)
c.1978A>G (p.Thr660Ala)
c.1930A>G (p.Thr644Ala)
c.1789A>G (p.Thr597Ala)
c.1774A>G (p.Thr592Ala)
c.1633A>G (p.Thr545Ala)
c.1444A>G (p.Thr482Ala)
c.1429A>G (p.Thr477Ala)
c.934A>G (p.Thr312Ala)
c.745A>G (p.Thr249Ala)
 gnomAD v4
10g.86718013A>TCA377451969LDB3n.515-714A>T
c.1537A>T (p.Thr513Ser)
c.1585A>T (p.Thr529Ser)
c.1726A>T (p.Thr576Ser)
c.1396A>T (p.Thr466Ser)
c.1741A>T (p.Thr581Ser)
c.1978A>T (p.Thr660Ser)
c.1930A>T (p.Thr644Ser)
c.1789A>T (p.Thr597Ser)
c.1774A>T (p.Thr592Ser)
c.1633A>T (p.Thr545Ser)
c.1444A>T (p.Thr482Ser)
c.1429A>T (p.Thr477Ser)
c.934A>T (p.Thr312Ser)
c.745A>T (p.Thr249Ser)
10g.86718014C>ACA377451970LDB3n.515-713C>A
c.1538C>A (p.Thr513Asn)
c.1586C>A (p.Thr529Asn)
c.1727C>A (p.Thr576Asn)
c.1397C>A (p.Thr466Asn)
c.1742C>A (p.Thr581Asn)
c.1979C>A (p.Thr660Asn)
c.1931C>A (p.Thr644Asn)
c.1790C>A (p.Thr597Asn)
c.1775C>A (p.Thr592Asn)
c.1634C>A (p.Thr545Asn)
c.1445C>A (p.Thr482Asn)
c.1430C>A (p.Thr477Asn)
c.935C>A (p.Thr312Asn)
c.746C>A (p.Thr249Asn)
10g.86718014C>GCA377451971LDB3n.515-713C>G
c.1538C>G (p.Thr513Ser)
c.1586C>G (p.Thr529Ser)
c.1727C>G (p.Thr576Ser)
c.1397C>G (p.Thr466Ser)
c.1742C>G (p.Thr581Ser)
c.1979C>G (p.Thr660Ser)
c.1931C>G (p.Thr644Ser)
c.1790C>G (p.Thr597Ser)
c.1775C>G (p.Thr592Ser)
c.1634C>G (p.Thr545Ser)
c.1445C>G (p.Thr482Ser)
c.1430C>G (p.Thr477Ser)
c.935C>G (p.Thr312Ser)
c.746C>G (p.Thr249Ser)
10g.86718014C>TCA377451973LDB3n.515-713C>T
c.1538C>T (p.Thr513Ile)
c.1586C>T (p.Thr529Ile)
c.1727C>T (p.Thr576Ile)
c.1397C>T (p.Thr466Ile)
c.1742C>T (p.Thr581Ile)
c.1979C>T (p.Thr660Ile)
c.1931C>T (p.Thr644Ile)
c.1790C>T (p.Thr597Ile)
c.1775C>T (p.Thr592Ile)
c.1634C>T (p.Thr545Ile)
c.1445C>T (p.Thr482Ile)
c.1430C>T (p.Thr477Ile)
c.935C>T (p.Thr312Ile)
c.746C>T (p.Thr249Ile)
 gnomAD v4
10g.86718015C>ACA470308669LDB3n.515-712C>A
c.1539C>A (p.Thr513=)
c.1587C>A (p.Thr529=)
c.1728C>A (p.Thr576=)
c.1398C>A (p.Thr466=)
c.1743C>A (p.Thr581=)
c.1980C>A (p.Thr660=)
c.1932C>A (p.Thr644=)
c.1791C>A (p.Thr597=)
c.1776C>A (p.Thr592=)
c.1635C>A (p.Thr545=)
c.1446C>A (p.Thr482=)
c.1431C>A (p.Thr477=)
c.936C>A (p.Thr312=)
c.747C>A (p.Thr249=)
10g.86718015C=CA1925632486LDB3n.515-712C=
c.1539C= (p.Thr513=)
c.1587C= (p.Thr529=)
c.1728C= (p.Thr576=)
c.1398C= (p.Thr466=)
c.1743C= (p.Thr581=)
c.1980C= (p.Thr660=)
c.1932C= (p.Thr644=)
c.1791C= (p.Thr597=)
c.1776C= (p.Thr592=)
c.1635C= (p.Thr545=)
c.1446C= (p.Thr482=)
c.1431C= (p.Thr477=)
c.936C= (p.Thr312=)
c.747C= (p.Thr249=)
10g.86718015C>GCA470308670LDB3n.515-712C>G
c.1539C>G (p.Thr513=)
c.1587C>G (p.Thr529=)
c.1728C>G (p.Thr576=)
c.1398C>G (p.Thr466=)
c.1743C>G (p.Thr581=)
c.1980C>G (p.Thr660=)
c.1932C>G (p.Thr644=)
c.1791C>G (p.Thr597=)
c.1776C>G (p.Thr592=)
c.1635C>G (p.Thr545=)
c.1446C>G (p.Thr482=)
c.1431C>G (p.Thr477=)
c.936C>G (p.Thr312=)
c.747C>G (p.Thr249=)
10g.86718015C>TCA5585223LDB3n.515-712C>T
c.1539C>T (p.Thr513=)
c.1587C>T (p.Thr529=)
c.1728C>T (p.Thr576=)
c.1398C>T (p.Thr466=)
c.1743C>T (p.Thr581=)
c.1980C>T (p.Thr660=)
c.1932C>T (p.Thr644=)
c.1791C>T (p.Thr597=)
c.1776C>T (p.Thr592=)
c.1635C>T (p.Thr545=)
c.1446C>T (p.Thr482=)
c.1431C>T (p.Thr477=)
c.936C>T (p.Thr312=)
c.747C>T (p.Thr249=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86718016T>ACA377451979LDB3n.515-711T>A
c.1540T>A (p.Cys514Ser)
c.1588T>A (p.Cys530Ser)
c.1729T>A (p.Cys577Ser)
c.1399T>A (p.Cys467Ser)
c.1744T>A (p.Cys582Ser)
c.1981T>A (p.Cys661Ser)
c.1933T>A (p.Cys645Ser)
c.1792T>A (p.Cys598Ser)
c.1777T>A (p.Cys593Ser)
c.1636T>A (p.Cys546Ser)
c.1447T>A (p.Cys483Ser)
c.1432T>A (p.Cys478Ser)
c.937T>A (p.Cys313Ser)
c.748T>A (p.Cys250Ser)
10g.86718016T>CCA377451977LDB3n.515-711T>C
c.1540T>C (p.Cys514Arg)
c.1588T>C (p.Cys530Arg)
c.1729T>C (p.Cys577Arg)
c.1399T>C (p.Cys467Arg)
c.1744T>C (p.Cys582Arg)
c.1981T>C (p.Cys661Arg)
c.1933T>C (p.Cys645Arg)
c.1792T>C (p.Cys598Arg)
c.1777T>C (p.Cys593Arg)
c.1636T>C (p.Cys546Arg)
c.1447T>C (p.Cys483Arg)
c.1432T>C (p.Cys478Arg)
c.937T>C (p.Cys313Arg)
c.748T>C (p.Cys250Arg)
10g.86718016T>GCA377451976LDB3n.515-711T>G
c.1540T>G (p.Cys514Gly)
c.1588T>G (p.Cys530Gly)
c.1729T>G (p.Cys577Gly)
c.1399T>G (p.Cys467Gly)
c.1744T>G (p.Cys582Gly)
c.1981T>G (p.Cys661Gly)
c.1933T>G (p.Cys645Gly)
c.1792T>G (p.Cys598Gly)
c.1777T>G (p.Cys593Gly)
c.1636T>G (p.Cys546Gly)
c.1447T>G (p.Cys483Gly)
c.1432T>G (p.Cys478Gly)
c.937T>G (p.Cys313Gly)
c.748T>G (p.Cys250Gly)
 gnomAD v4
10g.86718017G>ACA377451980LDB3n.515-710G>A
c.1541G>A (p.Cys514Tyr)
c.1589G>A (p.Cys530Tyr)
c.1730G>A (p.Cys577Tyr)
c.1400G>A (p.Cys467Tyr)
c.1745G>A (p.Cys582Tyr)
c.1982G>A (p.Cys661Tyr)
c.1934G>A (p.Cys645Tyr)
c.1793G>A (p.Cys598Tyr)
c.1778G>A (p.Cys593Tyr)
c.1637G>A (p.Cys546Tyr)
c.1448G>A (p.Cys483Tyr)
c.1433G>A (p.Cys478Tyr)
c.938G>A (p.Cys313Tyr)
c.749G>A (p.Cys250Tyr)
 gnomAD v4
10g.86718017G>CCA377451982LDB3n.515-710G>C
c.1541G>C (p.Cys514Ser)
c.1589G>C (p.Cys530Ser)
c.1730G>C (p.Cys577Ser)
c.1400G>C (p.Cys467Ser)
c.1745G>C (p.Cys582Ser)
c.1982G>C (p.Cys661Ser)
c.1934G>C (p.Cys645Ser)
c.1793G>C (p.Cys598Ser)
c.1778G>C (p.Cys593Ser)
c.1637G>C (p.Cys546Ser)
c.1448G>C (p.Cys483Ser)
c.1433G>C (p.Cys478Ser)
c.938G>C (p.Cys313Ser)
c.749G>C (p.Cys250Ser)
10g.86718017G>TCA377451984LDB3n.515-710G>T
c.1541G>T (p.Cys514Phe)
c.1589G>T (p.Cys530Phe)
c.1730G>T (p.Cys577Phe)
c.1400G>T (p.Cys467Phe)
c.1745G>T (p.Cys582Phe)
c.1982G>T (p.Cys661Phe)
c.1934G>T (p.Cys645Phe)
c.1793G>T (p.Cys598Phe)
c.1778G>T (p.Cys593Phe)
c.1637G>T (p.Cys546Phe)
c.1448G>T (p.Cys483Phe)
c.1433G>T (p.Cys478Phe)
c.938G>T (p.Cys313Phe)
c.749G>T (p.Cys250Phe)
10g.86718018T>ACA377451985LDB3n.515-709T>A
c.1542T>A (p.Cys514Ter)
c.1590T>A (p.Cys530Ter)
c.1731T>A (p.Cys577Ter)
c.1401T>A (p.Cys467Ter)
c.1746T>A (p.Cys582Ter)
c.1983T>A (p.Cys661Ter)
c.1935T>A (p.Cys645Ter)
c.1794T>A (p.Cys598Ter)
c.1779T>A (p.Cys593Ter)
c.1638T>A (p.Cys546Ter)
c.1449T>A (p.Cys483Ter)
c.1434T>A (p.Cys478Ter)
c.939T>A (p.Cys313Ter)
c.750T>A (p.Cys250Ter)
10g.86718018T>CCA470308674LDB3n.515-709T>C
c.1542T>C (p.Cys514=)
c.1590T>C (p.Cys530=)
c.1731T>C (p.Cys577=)
c.1401T>C (p.Cys467=)
c.1746T>C (p.Cys582=)
c.1983T>C (p.Cys661=)
c.1935T>C (p.Cys645=)
c.1794T>C (p.Cys598=)
c.1779T>C (p.Cys593=)
c.1638T>C (p.Cys546=)
c.1449T>C (p.Cys483=)
c.1434T>C (p.Cys478=)
c.939T>C (p.Cys313=)
c.750T>C (p.Cys250=)
 dbSNP gnomAD v2 gnomAD v4
10g.86718018T>GCA377451986LDB3n.515-709T>G
c.1542T>G (p.Cys514Trp)
c.1590T>G (p.Cys530Trp)
c.1731T>G (p.Cys577Trp)
c.1401T>G (p.Cys467Trp)
c.1746T>G (p.Cys582Trp)
c.1983T>G (p.Cys661Trp)
c.1935T>G (p.Cys645Trp)
c.1794T>G (p.Cys598Trp)
c.1779T>G (p.Cys593Trp)
c.1638T>G (p.Cys546Trp)
c.1449T>G (p.Cys483Trp)
c.1434T>G (p.Cys478Trp)
c.939T>G (p.Cys313Trp)
c.750T>G (p.Cys250Trp)
10g.86718018T=CA1925632487LDB3n.515-709T=
c.1542T= (p.Cys514=)
c.1590T= (p.Cys530=)
c.1731T= (p.Cys577=)
c.1401T= (p.Cys467=)
c.1746T= (p.Cys582=)
c.1983T= (p.Cys661=)
c.1935T= (p.Cys645=)
c.1794T= (p.Cys598=)
c.1779T= (p.Cys593=)
c.1638T= (p.Cys546=)
c.1449T= (p.Cys483=)
c.1434T= (p.Cys478=)
c.939T= (p.Cys313=)
c.750T= (p.Cys250=)
10g.86718019G>ACA377451987LDB3n.515-708G>A
c.1543G>A (p.Ala515Thr)
c.1591G>A (p.Ala531Thr)
c.1732G>A (p.Ala578Thr)
c.1402G>A (p.Ala468Thr)
c.1747G>A (p.Ala583Thr)
c.1984G>A (p.Ala662Thr)
c.1936G>A (p.Ala646Thr)
c.1795G>A (p.Ala599Thr)
c.1780G>A (p.Ala594Thr)
c.1639G>A (p.Ala547Thr)
c.1450G>A (p.Ala484Thr)
c.1435G>A (p.Ala479Thr)
c.940G>A (p.Ala314Thr)
c.751G>A (p.Ala251Thr)
 ClinVar
10g.86718019G>CCA377451989LDB3n.515-708G>C
c.1543G>C (p.Ala515Pro)
c.1591G>C (p.Ala531Pro)
c.1732G>C (p.Ala578Pro)
c.1402G>C (p.Ala468Pro)
c.1747G>C (p.Ala583Pro)
c.1984G>C (p.Ala662Pro)
c.1936G>C (p.Ala646Pro)
c.1795G>C (p.Ala599Pro)
c.1780G>C (p.Ala594Pro)
c.1639G>C (p.Ala547Pro)
c.1450G>C (p.Ala484Pro)
c.1435G>C (p.Ala479Pro)
c.940G>C (p.Ala314Pro)
c.751G>C (p.Ala251Pro)
10g.86718019G>TCA377451990LDB3n.515-708G>T
c.1543G>T (p.Ala515Ser)
c.1591G>T (p.Ala531Ser)
c.1732G>T (p.Ala578Ser)
c.1402G>T (p.Ala468Ser)
c.1747G>T (p.Ala583Ser)
c.1984G>T (p.Ala662Ser)
c.1936G>T (p.Ala646Ser)
c.1795G>T (p.Ala599Ser)
c.1780G>T (p.Ala594Ser)
c.1639G>T (p.Ala547Ser)
c.1450G>T (p.Ala484Ser)
c.1435G>T (p.Ala479Ser)
c.940G>T (p.Ala314Ser)
c.751G>T (p.Ala251Ser)
 gnomAD v4
10g.86718020C>ACA377451992LDB3n.515-707C>A
c.1544C>A (p.Ala515Asp)
c.1592C>A (p.Ala531Asp)
c.1733C>A (p.Ala578Asp)
c.1403C>A (p.Ala468Asp)
c.1748C>A (p.Ala583Asp)
c.1985C>A (p.Ala662Asp)
c.1937C>A (p.Ala646Asp)
c.1796C>A (p.Ala599Asp)
c.1781C>A (p.Ala594Asp)
c.1640C>A (p.Ala547Asp)
c.1451C>A (p.Ala484Asp)
c.1436C>A (p.Ala479Asp)
c.941C>A (p.Ala314Asp)
c.752C>A (p.Ala251Asp)
10g.86718020C>GCA377451994LDB3n.515-707C>G
c.1544C>G (p.Ala515Gly)
c.1592C>G (p.Ala531Gly)
c.1733C>G (p.Ala578Gly)
c.1403C>G (p.Ala468Gly)
c.1748C>G (p.Ala583Gly)
c.1985C>G (p.Ala662Gly)
c.1937C>G (p.Ala646Gly)
c.1796C>G (p.Ala599Gly)
c.1781C>G (p.Ala594Gly)
c.1640C>G (p.Ala547Gly)
c.1451C>G (p.Ala484Gly)
c.1436C>G (p.Ala479Gly)
c.941C>G (p.Ala314Gly)
c.752C>G (p.Ala251Gly)
10g.86718020C>TCA377451995LDB3n.515-707C>T
c.1544C>T (p.Ala515Val)
c.1592C>T (p.Ala531Val)
c.1733C>T (p.Ala578Val)
c.1403C>T (p.Ala468Val)
c.1748C>T (p.Ala583Val)
c.1985C>T (p.Ala662Val)
c.1937C>T (p.Ala646Val)
c.1796C>T (p.Ala599Val)
c.1781C>T (p.Ala594Val)
c.1640C>T (p.Ala547Val)
c.1451C>T (p.Ala484Val)
c.1436C>T (p.Ala479Val)
c.941C>T (p.Ala314Val)
c.752C>T (p.Ala251Val)
10g.86718021C>ACA470308677LDB3n.515-706C>A
c.1545C>A (p.Ala515=)
c.1593C>A (p.Ala531=)
c.1734C>A (p.Ala578=)
c.1404C>A (p.Ala468=)
c.1749C>A (p.Ala583=)
c.1986C>A (p.Ala662=)
c.1938C>A (p.Ala646=)
c.1797C>A (p.Ala599=)
c.1782C>A (p.Ala594=)
c.1641C>A (p.Ala547=)
c.1452C>A (p.Ala484=)
c.1437C>A (p.Ala479=)
c.942C>A (p.Ala314=)
c.753C>A (p.Ala251=)
10g.86718021C=CA1925632488LDB3n.515-706C=
c.1545C= (p.Ala515=)
c.1593C= (p.Ala531=)
c.1734C= (p.Ala578=)
c.1404C= (p.Ala468=)
c.1749C= (p.Ala583=)
c.1986C= (p.Ala662=)
c.1938C= (p.Ala646=)
c.1797C= (p.Ala599=)
c.1782C= (p.Ala594=)
c.1641C= (p.Ala547=)
c.1452C= (p.Ala484=)
c.1437C= (p.Ala479=)
c.942C= (p.Ala314=)
c.753C= (p.Ala251=)
10g.86718021C>GCA470308678LDB3n.515-706C>G
c.1545C>G (p.Ala515=)
c.1593C>G (p.Ala531=)
c.1734C>G (p.Ala578=)
c.1404C>G (p.Ala468=)
c.1749C>G (p.Ala583=)
c.1986C>G (p.Ala662=)
c.1938C>G (p.Ala646=)
c.1797C>G (p.Ala599=)
c.1782C>G (p.Ala594=)
c.1641C>G (p.Ala547=)
c.1452C>G (p.Ala484=)
c.1437C>G (p.Ala479=)
c.942C>G (p.Ala314=)
c.753C>G (p.Ala251=)
10g.86718021C>TCA470308680LDB3n.515-706C>T
c.1545C>T (p.Ala515=)
c.1593C>T (p.Ala531=)
c.1734C>T (p.Ala578=)
c.1404C>T (p.Ala468=)
c.1749C>T (p.Ala583=)
c.1986C>T (p.Ala662=)
c.1938C>T (p.Ala646=)
c.1797C>T (p.Ala599=)
c.1782C>T (p.Ala594=)
c.1641C>T (p.Ala547=)
c.1452C>T (p.Ala484=)
c.1437C>T (p.Ala479=)
c.942C>T (p.Ala314=)
c.753C>T (p.Ala251=)
 dbSNP
10g.86718022T>ACA377451997LDB3n.515-705T>A
c.1546T>A (p.Tyr516Asn)
c.1594T>A (p.Tyr532Asn)
c.1735T>A (p.Tyr579Asn)
c.1405T>A (p.Tyr469Asn)
c.1750T>A (p.Tyr584Asn)
c.1987T>A (p.Tyr663Asn)
c.1939T>A (p.Tyr647Asn)
c.1798T>A (p.Tyr600Asn)
c.1783T>A (p.Tyr595Asn)
c.1642T>A (p.Tyr548Asn)
c.1453T>A (p.Tyr485Asn)
c.1438T>A (p.Tyr480Asn)
c.943T>A (p.Tyr315Asn)
c.754T>A (p.Tyr252Asn)
10g.86718022T>CCA377451998LDB3n.515-705T>C
c.1546T>C (p.Tyr516His)
c.1594T>C (p.Tyr532His)
c.1735T>C (p.Tyr579His)
c.1405T>C (p.Tyr469His)
c.1750T>C (p.Tyr584His)
c.1987T>C (p.Tyr663His)
c.1939T>C (p.Tyr647His)
c.1798T>C (p.Tyr600His)
c.1783T>C (p.Tyr595His)
c.1642T>C (p.Tyr548His)
c.1453T>C (p.Tyr485His)
c.1438T>C (p.Tyr480His)
c.943T>C (p.Tyr315His)
c.754T>C (p.Tyr252His)
10g.86718022T>GCA377452000LDB3n.515-705T>G
c.1546T>G (p.Tyr516Asp)
c.1594T>G (p.Tyr532Asp)
c.1735T>G (p.Tyr579Asp)
c.1405T>G (p.Tyr469Asp)
c.1750T>G (p.Tyr584Asp)
c.1987T>G (p.Tyr663Asp)
c.1939T>G (p.Tyr647Asp)
c.1798T>G (p.Tyr600Asp)
c.1783T>G (p.Tyr595Asp)
c.1642T>G (p.Tyr548Asp)
c.1453T>G (p.Tyr485Asp)
c.1438T>G (p.Tyr480Asp)
c.943T>G (p.Tyr315Asp)
c.754T>G (p.Tyr252Asp)
10g.86718022dupCA2609998136LDB3n.515-705dup
c.1546dup (p.Tyr516LeufsTer21)
c.1594dup (p.Tyr532LeufsTer21)
c.1735dup (p.Tyr579LeufsTer21)
c.1405dup (p.Tyr469LeufsTer21)
c.1750dup (p.Tyr584LeufsTer21)
c.1987dup (p.Tyr663LeufsTer21)
c.1939dup (p.Tyr647LeufsTer21)
c.1798dup (p.Tyr600LeufsTer21)
c.1783dup (p.Tyr595LeufsTer21)
c.1642dup (p.Tyr548LeufsTer21)
c.1453dup (p.Tyr485LeufsTer21)
c.1438dup (p.Tyr480LeufsTer21)
c.943dup (p.Tyr315LeufsTer21)
c.754dup (p.Tyr252LeufsTer21)
 gnomAD v4
10g.86718023A=CA1925632489LDB3n.515-704A=
c.1547A= (p.Tyr516=)
c.1595A= (p.Tyr532=)
c.1736A= (p.Tyr579=)
c.1406A= (p.Tyr469=)
c.1751A= (p.Tyr584=)
c.1988A= (p.Tyr663=)
c.1940A= (p.Tyr647=)
c.1799A= (p.Tyr600=)
c.1784A= (p.Tyr595=)
c.1643A= (p.Tyr548=)
c.1454A= (p.Tyr485=)
c.1439A= (p.Tyr480=)
c.944A= (p.Tyr315=)
c.755A= (p.Tyr252=)
10g.86718023A>CCA377452003LDB3n.515-704A>C
c.1547A>C (p.Tyr516Ser)
c.1595A>C (p.Tyr532Ser)
c.1736A>C (p.Tyr579Ser)
c.1406A>C (p.Tyr469Ser)
c.1751A>C (p.Tyr584Ser)
c.1988A>C (p.Tyr663Ser)
c.1940A>C (p.Tyr647Ser)
c.1799A>C (p.Tyr600Ser)
c.1784A>C (p.Tyr595Ser)
c.1643A>C (p.Tyr548Ser)
c.1454A>C (p.Tyr485Ser)
c.1439A>C (p.Tyr480Ser)
c.944A>C (p.Tyr315Ser)
c.755A>C (p.Tyr252Ser)
10g.86718023A>GCA237305LDB3n.515-704A>G
c.1547A>G (p.Tyr516Cys)
c.1595A>G (p.Tyr532Cys)
c.1736A>G (p.Tyr579Cys)
c.1406A>G (p.Tyr469Cys)
c.1751A>G (p.Tyr584Cys)
c.1988A>G (p.Tyr663Cys)
c.1940A>G (p.Tyr647Cys)
c.1799A>G (p.Tyr600Cys)
c.1784A>G (p.Tyr595Cys)
c.1643A>G (p.Tyr548Cys)
c.1454A>G (p.Tyr485Cys)
c.1439A>G (p.Tyr480Cys)
c.944A>G (p.Tyr315Cys)
c.755A>G (p.Tyr252Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86718023A>TCA377452002LDB3n.515-704A>T
c.1547A>T (p.Tyr516Phe)
c.1595A>T (p.Tyr532Phe)
c.1736A>T (p.Tyr579Phe)
c.1406A>T (p.Tyr469Phe)
c.1751A>T (p.Tyr584Phe)
c.1988A>T (p.Tyr663Phe)
c.1940A>T (p.Tyr647Phe)
c.1799A>T (p.Tyr600Phe)
c.1784A>T (p.Tyr595Phe)
c.1643A>T (p.Tyr548Phe)
c.1454A>T (p.Tyr485Phe)
c.1439A>T (p.Tyr480Phe)
c.944A>T (p.Tyr315Phe)
c.755A>T (p.Tyr252Phe)
10g.86718024C>ACA377452005LDB3n.515-703C>A
c.1548C>A (p.Tyr516Ter)
c.1596C>A (p.Tyr532Ter)
c.1737C>A (p.Tyr579Ter)
c.1407C>A (p.Tyr469Ter)
c.1752C>A (p.Tyr584Ter)
c.1989C>A (p.Tyr663Ter)
c.1941C>A (p.Tyr647Ter)
c.1800C>A (p.Tyr600Ter)
c.1785C>A (p.Tyr595Ter)
c.1644C>A (p.Tyr548Ter)
c.1455C>A (p.Tyr485Ter)
c.1440C>A (p.Tyr480Ter)
c.945C>A (p.Tyr315Ter)
c.756C>A (p.Tyr252Ter)
10g.86718024C>GCA377452007LDB3n.515-703C>G
c.1548C>G (p.Tyr516Ter)
c.1596C>G (p.Tyr532Ter)
c.1737C>G (p.Tyr579Ter)
c.1407C>G (p.Tyr469Ter)
c.1752C>G (p.Tyr584Ter)
c.1989C>G (p.Tyr663Ter)
c.1941C>G (p.Tyr647Ter)
c.1800C>G (p.Tyr600Ter)
c.1785C>G (p.Tyr595Ter)
c.1644C>G (p.Tyr548Ter)
c.1455C>G (p.Tyr485Ter)
c.1440C>G (p.Tyr480Ter)
c.945C>G (p.Tyr315Ter)
c.756C>G (p.Tyr252Ter)
10g.86718024C>TCA470308684LDB3n.515-703C>T
c.1548C>T (p.Tyr516=)
c.1596C>T (p.Tyr532=)
c.1737C>T (p.Tyr579=)
c.1407C>T (p.Tyr469=)
c.1752C>T (p.Tyr584=)
c.1989C>T (p.Tyr663=)
c.1941C>T (p.Tyr647=)
c.1800C>T (p.Tyr600=)
c.1785C>T (p.Tyr595=)
c.1644C>T (p.Tyr548=)
c.1455C>T (p.Tyr485=)
c.1440C>T (p.Tyr480=)
c.945C>T (p.Tyr315=)
c.756C>T (p.Tyr252=)
10g.86718025T>ACA377452009LDB3n.515-702T>A
c.1549T>A (p.Cys517Ser)
c.1597T>A (p.Cys533Ser)
c.1738T>A (p.Cys580Ser)
c.1408T>A (p.Cys470Ser)
c.1753T>A (p.Cys585Ser)
c.1990T>A (p.Cys664Ser)
c.1942T>A (p.Cys648Ser)
c.1801T>A (p.Cys601Ser)
c.1786T>A (p.Cys596Ser)
c.1645T>A (p.Cys549Ser)
c.1456T>A (p.Cys486Ser)
c.1441T>A (p.Cys481Ser)
c.946T>A (p.Cys316Ser)
c.757T>A (p.Cys253Ser)
 gnomAD v4
10g.86718025T>CCA377452010LDB3n.515-702T>C
c.1549T>C (p.Cys517Arg)
c.1597T>C (p.Cys533Arg)
c.1738T>C (p.Cys580Arg)
c.1408T>C (p.Cys470Arg)
c.1753T>C (p.Cys585Arg)
c.1990T>C (p.Cys664Arg)
c.1942T>C (p.Cys648Arg)
c.1801T>C (p.Cys601Arg)
c.1786T>C (p.Cys596Arg)
c.1645T>C (p.Cys549Arg)
c.1456T>C (p.Cys486Arg)
c.1441T>C (p.Cys481Arg)
c.946T>C (p.Cys316Arg)
c.757T>C (p.Cys253Arg)
10g.86718025T>GCA377452011LDB3n.515-702T>G
c.1549T>G (p.Cys517Gly)
c.1597T>G (p.Cys533Gly)
c.1738T>G (p.Cys580Gly)
c.1408T>G (p.Cys470Gly)
c.1753T>G (p.Cys585Gly)
c.1990T>G (p.Cys664Gly)
c.1942T>G (p.Cys648Gly)
c.1801T>G (p.Cys601Gly)
c.1786T>G (p.Cys596Gly)
c.1645T>G (p.Cys549Gly)
c.1456T>G (p.Cys486Gly)
c.1441T>G (p.Cys481Gly)
c.946T>G (p.Cys316Gly)
c.757T>G (p.Cys253Gly)
 gnomAD v4
10g.86718026G>ACA377452013LDB3n.515-701G>A
c.1550G>A (p.Cys517Tyr)
c.1598G>A (p.Cys533Tyr)
c.1739G>A (p.Cys580Tyr)
c.1409G>A (p.Cys470Tyr)
c.1754G>A (p.Cys585Tyr)
c.1991G>A (p.Cys664Tyr)
c.1943G>A (p.Cys648Tyr)
c.1802G>A (p.Cys601Tyr)
c.1787G>A (p.Cys596Tyr)
c.1646G>A (p.Cys549Tyr)
c.1457G>A (p.Cys486Tyr)
c.1442G>A (p.Cys481Tyr)
c.947G>A (p.Cys316Tyr)
c.758G>A (p.Cys253Tyr)
10g.86718026G>CCA377452014LDB3n.515-701G>C
c.1550G>C (p.Cys517Ser)
c.1598G>C (p.Cys533Ser)
c.1739G>C (p.Cys580Ser)
c.1409G>C (p.Cys470Ser)
c.1754G>C (p.Cys585Ser)
c.1991G>C (p.Cys664Ser)
c.1943G>C (p.Cys648Ser)
c.1802G>C (p.Cys601Ser)
c.1787G>C (p.Cys596Ser)
c.1646G>C (p.Cys549Ser)
c.1457G>C (p.Cys486Ser)
c.1442G>C (p.Cys481Ser)
c.947G>C (p.Cys316Ser)
c.758G>C (p.Cys253Ser)
 COSMIC COSMIC COSMIC
10g.86718026G>TCA377452015LDB3n.515-701G>T
c.1550G>T (p.Cys517Phe)
c.1598G>T (p.Cys533Phe)
c.1739G>T (p.Cys580Phe)
c.1409G>T (p.Cys470Phe)
c.1754G>T (p.Cys585Phe)
c.1991G>T (p.Cys664Phe)
c.1943G>T (p.Cys648Phe)
c.1802G>T (p.Cys601Phe)
c.1787G>T (p.Cys596Phe)
c.1646G>T (p.Cys549Phe)
c.1457G>T (p.Cys486Phe)
c.1442G>T (p.Cys481Phe)
c.947G>T (p.Cys316Phe)
c.758G>T (p.Cys253Phe)
10g.86718027C>ACA5585224LDB3n.515-700C>A
c.1551C>A (p.Cys517Ter)
c.1599C>A (p.Cys533Ter)
c.1740C>A (p.Cys580Ter)
c.1410C>A (p.Cys470Ter)
c.1755C>A (p.Cys585Ter)
c.1992C>A (p.Cys664Ter)
c.1944C>A (p.Cys648Ter)
c.1803C>A (p.Cys601Ter)
c.1788C>A (p.Cys596Ter)
c.1647C>A (p.Cys549Ter)
c.1458C>A (p.Cys486Ter)
c.1443C>A (p.Cys481Ter)
c.948C>A (p.Cys316Ter)
c.759C>A (p.Cys253Ter)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86718027C=CA1925632490LDB3n.515-700C=
c.1551C= (p.Cys517=)
c.1599C= (p.Cys533=)
c.1740C= (p.Cys580=)
c.1410C= (p.Cys470=)
c.1755C= (p.Cys585=)
c.1992C= (p.Cys664=)
c.1944C= (p.Cys648=)
c.1803C= (p.Cys601=)
c.1788C= (p.Cys596=)
c.1647C= (p.Cys549=)
c.1458C= (p.Cys486=)
c.1443C= (p.Cys481=)
c.948C= (p.Cys316=)
c.759C= (p.Cys253=)
10g.86718027C>GCA377452018LDB3n.515-700C>G
c.1551C>G (p.Cys517Trp)
c.1599C>G (p.Cys533Trp)
c.1740C>G (p.Cys580Trp)
c.1410C>G (p.Cys470Trp)
c.1755C>G (p.Cys585Trp)
c.1992C>G (p.Cys664Trp)
c.1944C>G (p.Cys648Trp)
c.1803C>G (p.Cys601Trp)
c.1788C>G (p.Cys596Trp)
c.1647C>G (p.Cys549Trp)
c.1458C>G (p.Cys486Trp)
c.1443C>G (p.Cys481Trp)
c.948C>G (p.Cys316Trp)
c.759C>G (p.Cys253Trp)
10g.86718027C>TCA470308690LDB3n.515-700C>T
c.1551C>T (p.Cys517=)
c.1599C>T (p.Cys533=)
c.1740C>T (p.Cys580=)
c.1410C>T (p.Cys470=)
c.1755C>T (p.Cys585=)
c.1992C>T (p.Cys664=)
c.1944C>T (p.Cys648=)
c.1803C>T (p.Cys601=)
c.1788C>T (p.Cys596=)
c.1647C>T (p.Cys549=)
c.1458C>T (p.Cys486=)
c.1443C>T (p.Cys481=)
c.948C>T (p.Cys316=)
c.759C>T (p.Cys253=)
10g.86718028A=CA1925632491LDB3n.515-699A=
c.1552A= (p.Lys518=)
c.1600A= (p.Lys534=)
c.1741A= (p.Lys581=)
c.1411A= (p.Lys471=)
c.1756A= (p.Lys586=)
c.1993A= (p.Lys665=)
c.1945A= (p.Lys649=)
c.1804A= (p.Lys602=)
c.1789A= (p.Lys597=)
c.1648A= (p.Lys550=)
c.1459A= (p.Lys487=)
c.1444A= (p.Lys482=)
c.949A= (p.Lys317=)
c.760A= (p.Lys254=)
10g.86718028A>CCA5585225LDB3n.515-699A>C
c.1552A>C (p.Lys518Gln)
c.1600A>C (p.Lys534Gln)
c.1741A>C (p.Lys581Gln)
c.1411A>C (p.Lys471Gln)
c.1756A>C (p.Lys586Gln)
c.1993A>C (p.Lys665Gln)
c.1945A>C (p.Lys649Gln)
c.1804A>C (p.Lys602Gln)
c.1789A>C (p.Lys597Gln)
c.1648A>C (p.Lys550Gln)
c.1459A>C (p.Lys487Gln)
c.1444A>C (p.Lys482Gln)
c.949A>C (p.Lys317Gln)
c.760A>C (p.Lys254Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86718028A>GCA377452020LDB3n.515-699A>G
c.1552A>G (p.Lys518Glu)
c.1600A>G (p.Lys534Glu)
c.1741A>G (p.Lys581Glu)
c.1411A>G (p.Lys471Glu)
c.1756A>G (p.Lys586Glu)
c.1993A>G (p.Lys665Glu)
c.1945A>G (p.Lys649Glu)
c.1804A>G (p.Lys602Glu)
c.1789A>G (p.Lys597Glu)
c.1648A>G (p.Lys550Glu)
c.1459A>G (p.Lys487Glu)
c.1444A>G (p.Lys482Glu)
c.949A>G (p.Lys317Glu)
c.760A>G (p.Lys254Glu)
10g.86718028A>TCA377452021LDB3n.515-699A>T
c.1552A>T (p.Lys518Ter)
c.1600A>T (p.Lys534Ter)
c.1741A>T (p.Lys581Ter)
c.1411A>T (p.Lys471Ter)
c.1756A>T (p.Lys586Ter)
c.1993A>T (p.Lys665Ter)
c.1945A>T (p.Lys649Ter)
c.1804A>T (p.Lys602Ter)
c.1789A>T (p.Lys597Ter)
c.1648A>T (p.Lys550Ter)
c.1459A>T (p.Lys487Ter)
c.1444A>T (p.Lys482Ter)
c.949A>T (p.Lys317Ter)
c.760A>T (p.Lys254Ter)
10g.86718029A=CA1925632492LDB3n.515-698A=
c.1553A= (p.Lys518=)
c.1601A= (p.Lys534=)
c.1742A= (p.Lys581=)
c.1412A= (p.Lys471=)
c.1757A= (p.Lys586=)
c.1994A= (p.Lys665=)
c.1946A= (p.Lys649=)
c.1805A= (p.Lys602=)
c.1790A= (p.Lys597=)
c.1649A= (p.Lys550=)
c.1460A= (p.Lys487=)
c.1445A= (p.Lys482=)
c.950A= (p.Lys317=)
c.761A= (p.Lys254=)
10g.86718029A>CCA377452027LDB3n.515-698A>C
c.1553A>C (p.Lys518Thr)
c.1601A>C (p.Lys534Thr)
c.1742A>C (p.Lys581Thr)
c.1412A>C (p.Lys471Thr)
c.1757A>C (p.Lys586Thr)
c.1994A>C (p.Lys665Thr)
c.1946A>C (p.Lys649Thr)
c.1805A>C (p.Lys602Thr)
c.1790A>C (p.Lys597Thr)
c.1649A>C (p.Lys550Thr)
c.1460A>C (p.Lys487Thr)
c.1445A>C (p.Lys482Thr)
c.950A>C (p.Lys317Thr)
c.761A>C (p.Lys254Thr)
10g.86718029A>GCA377452023LDB3n.515-698A>G
c.1553A>G (p.Lys518Arg)
c.1601A>G (p.Lys534Arg)
c.1742A>G (p.Lys581Arg)
c.1412A>G (p.Lys471Arg)
c.1757A>G (p.Lys586Arg)
c.1994A>G (p.Lys665Arg)
c.1946A>G (p.Lys649Arg)
c.1805A>G (p.Lys602Arg)
c.1790A>G (p.Lys597Arg)
c.1649A>G (p.Lys550Arg)
c.1460A>G (p.Lys487Arg)
c.1445A>G (p.Lys482Arg)
c.950A>G (p.Lys317Arg)
c.761A>G (p.Lys254Arg)
 dbSNP gnomAD v4
10g.86718029A>TCA377452025LDB3n.515-698A>T
c.1553A>T (p.Lys518Met)
c.1601A>T (p.Lys534Met)
c.1742A>T (p.Lys581Met)
c.1412A>T (p.Lys471Met)
c.1757A>T (p.Lys586Met)
c.1994A>T (p.Lys665Met)
c.1946A>T (p.Lys649Met)
c.1805A>T (p.Lys602Met)
c.1790A>T (p.Lys597Met)
c.1649A>T (p.Lys550Met)
c.1460A>T (p.Lys487Met)
c.1445A>T (p.Lys482Met)
c.950A>T (p.Lys317Met)
c.761A>T (p.Lys254Met)
10g.86718030G>ACA470308694LDB3n.515-697G>A
c.1554G>A (p.Lys518=)
c.1602G>A (p.Lys534=)
c.1743G>A (p.Lys581=)
c.1413G>A (p.Lys471=)
c.1758G>A (p.Lys586=)
c.1995G>A (p.Lys665=)
c.1947G>A (p.Lys649=)
c.1806G>A (p.Lys602=)
c.1791G>A (p.Lys597=)
c.1650G>A (p.Lys550=)
c.1461G>A (p.Lys487=)
c.1446G>A (p.Lys482=)
c.951G>A (p.Lys317=)
c.762G>A (p.Lys254=)
10g.86718030G>CCA377452028LDB3n.515-697G>C
c.1554G>C (p.Lys518Asn)
c.1602G>C (p.Lys534Asn)
c.1743G>C (p.Lys581Asn)
c.1413G>C (p.Lys471Asn)
c.1758G>C (p.Lys586Asn)
c.1995G>C (p.Lys665Asn)
c.1947G>C (p.Lys649Asn)
c.1806G>C (p.Lys602Asn)
c.1791G>C (p.Lys597Asn)
c.1650G>C (p.Lys550Asn)
c.1461G>C (p.Lys487Asn)
c.1446G>C (p.Lys482Asn)
c.951G>C (p.Lys317Asn)
c.762G>C (p.Lys254Asn)
10g.86718030G>TCA377452030LDB3n.515-697G>T
c.1554G>T (p.Lys518Asn)
c.1602G>T (p.Lys534Asn)
c.1743G>T (p.Lys581Asn)
c.1413G>T (p.Lys471Asn)
c.1758G>T (p.Lys586Asn)
c.1995G>T (p.Lys665Asn)
c.1947G>T (p.Lys649Asn)
c.1806G>T (p.Lys602Asn)
c.1791G>T (p.Lys597Asn)
c.1650G>T (p.Lys550Asn)
c.1461G>T (p.Lys487Asn)
c.1446G>T (p.Lys482Asn)
c.951G>T (p.Lys317Asn)
c.762G>T (p.Lys254Asn)
10g.86718031A>CCA377452032LDB3n.515-696A>C
c.1555A>C (p.Thr519Pro)
c.1603A>C (p.Thr535Pro)
c.1744A>C (p.Thr582Pro)
c.1414A>C (p.Thr472Pro)
c.1759A>C (p.Thr587Pro)
c.1996A>C (p.Thr666Pro)
c.1948A>C (p.Thr650Pro)
c.1807A>C (p.Thr603Pro)
c.1792A>C (p.Thr598Pro)
c.1651A>C (p.Thr551Pro)
c.1462A>C (p.Thr488Pro)
c.1447A>C (p.Thr483Pro)
c.952A>C (p.Thr318Pro)
c.763A>C (p.Thr255Pro)
10g.86718031A>GCA377452034LDB3n.515-696A>G
c.1555A>G (p.Thr519Ala)
c.1603A>G (p.Thr535Ala)
c.1744A>G (p.Thr582Ala)
c.1414A>G (p.Thr472Ala)
c.1759A>G (p.Thr587Ala)
c.1996A>G (p.Thr666Ala)
c.1948A>G (p.Thr650Ala)
c.1807A>G (p.Thr603Ala)
c.1792A>G (p.Thr598Ala)
c.1651A>G (p.Thr551Ala)
c.1462A>G (p.Thr488Ala)
c.1447A>G (p.Thr483Ala)
c.952A>G (p.Thr318Ala)
c.763A>G (p.Thr255Ala)
 gnomAD v4
10g.86718031A>TCA377452035LDB3n.515-696A>T
c.1555A>T (p.Thr519Ser)
c.1603A>T (p.Thr535Ser)
c.1744A>T (p.Thr582Ser)
c.1414A>T (p.Thr472Ser)
c.1759A>T (p.Thr587Ser)
c.1996A>T (p.Thr666Ser)
c.1948A>T (p.Thr650Ser)
c.1807A>T (p.Thr603Ser)
c.1792A>T (p.Thr598Ser)
c.1651A>T (p.Thr551Ser)
c.1462A>T (p.Thr488Ser)
c.1447A>T (p.Thr483Ser)
c.952A>T (p.Thr318Ser)
c.763A>T (p.Thr255Ser)
10g.86718032C>ACA377452036LDB3n.515-695C>A
c.1556C>A (p.Thr519Asn)
c.1604C>A (p.Thr535Asn)
c.1745C>A (p.Thr582Asn)
c.1415C>A (p.Thr472Asn)
c.1760C>A (p.Thr587Asn)
c.1997C>A (p.Thr666Asn)
c.1949C>A (p.Thr650Asn)
c.1808C>A (p.Thr603Asn)
c.1793C>A (p.Thr598Asn)
c.1652C>A (p.Thr551Asn)
c.1463C>A (p.Thr488Asn)
c.1448C>A (p.Thr483Asn)
c.953C>A (p.Thr318Asn)
c.764C>A (p.Thr255Asn)
 gnomAD v4
10g.86718032C=CA1925632493LDB3n.515-695C=
c.1556C= (p.Thr519=)
c.1604C= (p.Thr535=)
c.1745C= (p.Thr582=)
c.1415C= (p.Thr472=)
c.1760C= (p.Thr587=)
c.1997C= (p.Thr666=)
c.1949C= (p.Thr650=)
c.1808C= (p.Thr603=)
c.1793C= (p.Thr598=)
c.1652C= (p.Thr551=)
c.1463C= (p.Thr488=)
c.1448C= (p.Thr483=)
c.953C= (p.Thr318=)
c.764C= (p.Thr255=)
10g.86718032C>GCA5585226LDB3n.515-695C>G
c.1556C>G (p.Thr519Ser)
c.1604C>G (p.Thr535Ser)
c.1745C>G (p.Thr582Ser)
c.1415C>G (p.Thr472Ser)
c.1760C>G (p.Thr587Ser)
c.1997C>G (p.Thr666Ser)
c.1949C>G (p.Thr650Ser)
c.1808C>G (p.Thr603Ser)
c.1793C>G (p.Thr598Ser)
c.1652C>G (p.Thr551Ser)
c.1463C>G (p.Thr488Ser)
c.1448C>G (p.Thr483Ser)
c.953C>G (p.Thr318Ser)
c.764C>G (p.Thr255Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86718032C>TCA377452039LDB3n.515-695C>T
c.1556C>T (p.Thr519Ile)
c.1604C>T (p.Thr535Ile)
c.1745C>T (p.Thr582Ile)
c.1415C>T (p.Thr472Ile)
c.1760C>T (p.Thr587Ile)
c.1997C>T (p.Thr666Ile)
c.1949C>T (p.Thr650Ile)
c.1808C>T (p.Thr603Ile)
c.1793C>T (p.Thr598Ile)
c.1652C>T (p.Thr551Ile)
c.1463C>T (p.Thr488Ile)
c.1448C>T (p.Thr483Ile)
c.953C>T (p.Thr318Ile)
c.764C>T (p.Thr255Ile)
 ClinVar dbSNP
10g.86718033T>ACA470308698LDB3n.515-694T>A
c.1557T>A (p.Thr519=)
c.1605T>A (p.Thr535=)
c.1746T>A (p.Thr582=)
c.1416T>A (p.Thr472=)
c.1761T>A (p.Thr587=)
c.1998T>A (p.Thr666=)
c.1950T>A (p.Thr650=)
c.1809T>A (p.Thr603=)
c.1794T>A (p.Thr598=)
c.1653T>A (p.Thr551=)
c.1464T>A (p.Thr488=)
c.1449T>A (p.Thr483=)
c.954T>A (p.Thr318=)
c.765T>A (p.Thr255=)
 dbSNP gnomAD v2 gnomAD v4
10g.86718033T>CCA470308700LDB3n.515-694T>C
c.1557T>C (p.Thr519=)
c.1605T>C (p.Thr535=)
c.1746T>C (p.Thr582=)
c.1416T>C (p.Thr472=)
c.1761T>C (p.Thr587=)
c.1998T>C (p.Thr666=)
c.1950T>C (p.Thr650=)
c.1809T>C (p.Thr603=)
c.1794T>C (p.Thr598=)
c.1653T>C (p.Thr551=)
c.1464T>C (p.Thr488=)
c.1449T>C (p.Thr483=)
c.954T>C (p.Thr318=)
c.765T>C (p.Thr255=)
10g.86718033T>GCA470308702LDB3n.515-694T>G
c.1557T>G (p.Thr519=)
c.1605T>G (p.Thr535=)
c.1746T>G (p.Thr582=)
c.1416T>G (p.Thr472=)
c.1761T>G (p.Thr587=)
c.1998T>G (p.Thr666=)
c.1950T>G (p.Thr650=)
c.1809T>G (p.Thr603=)
c.1794T>G (p.Thr598=)
c.1653T>G (p.Thr551=)
c.1464T>G (p.Thr488=)
c.1449T>G (p.Thr483=)
c.954T>G (p.Thr318=)
c.765T>G (p.Thr255=)
10g.86718033T=CA1925632494LDB3n.515-694T=
c.1557T= (p.Thr519=)
c.1605T= (p.Thr535=)
c.1746T= (p.Thr582=)
c.1416T= (p.Thr472=)
c.1761T= (p.Thr587=)
c.1998T= (p.Thr666=)
c.1950T= (p.Thr650=)
c.1809T= (p.Thr603=)
c.1794T= (p.Thr598=)
c.1653T= (p.Thr551=)
c.1464T= (p.Thr488=)
c.1449T= (p.Thr483=)
c.954T= (p.Thr318=)
c.765T= (p.Thr255=)
10g.86718034T>ACA377452040LDB3n.515-693T>A
c.1558T>A (p.Ser520Thr)
c.1606T>A (p.Ser536Thr)
c.1747T>A (p.Ser583Thr)
c.1417T>A (p.Ser473Thr)
c.1762T>A (p.Ser588Thr)
c.1999T>A (p.Ser667Thr)
c.1951T>A (p.Ser651Thr)
c.1810T>A (p.Ser604Thr)
c.1795T>A (p.Ser599Thr)
c.1654T>A (p.Ser552Thr)
c.1465T>A (p.Ser489Thr)
c.1450T>A (p.Ser484Thr)
c.955T>A (p.Ser319Thr)
c.766T>A (p.Ser256Thr)
10g.86718034T>CCA377452042LDB3n.515-693T>C
c.1558T>C (p.Ser520Pro)
c.1606T>C (p.Ser536Pro)
c.1747T>C (p.Ser583Pro)
c.1417T>C (p.Ser473Pro)
c.1762T>C (p.Ser588Pro)
c.1999T>C (p.Ser667Pro)
c.1951T>C (p.Ser651Pro)
c.1810T>C (p.Ser604Pro)
c.1795T>C (p.Ser599Pro)
c.1654T>C (p.Ser552Pro)
c.1465T>C (p.Ser489Pro)
c.1450T>C (p.Ser484Pro)
c.955T>C (p.Ser319Pro)
c.766T>C (p.Ser256Pro)
10g.86718034T>GCA377452043LDB3n.515-693T>G
c.1558T>G (p.Ser520Ala)
c.1606T>G (p.Ser536Ala)
c.1747T>G (p.Ser583Ala)
c.1417T>G (p.Ser473Ala)
c.1762T>G (p.Ser588Ala)
c.1999T>G (p.Ser667Ala)
c.1951T>G (p.Ser651Ala)
c.1810T>G (p.Ser604Ala)
c.1795T>G (p.Ser599Ala)
c.1654T>G (p.Ser552Ala)
c.1465T>G (p.Ser489Ala)
c.1450T>G (p.Ser484Ala)
c.955T>G (p.Ser319Ala)
c.766T>G (p.Ser256Ala)
10g.86718035C>ACA377452049LDB3n.515-692C>A
c.1559C>A (p.Ser520Tyr)
c.1607C>A (p.Ser536Tyr)
c.1748C>A (p.Ser583Tyr)
c.1418C>A (p.Ser473Tyr)
c.1763C>A (p.Ser588Tyr)
c.2000C>A (p.Ser667Tyr)
c.1952C>A (p.Ser651Tyr)
c.1811C>A (p.Ser604Tyr)
c.1796C>A (p.Ser599Tyr)
c.1655C>A (p.Ser552Tyr)
c.1466C>A (p.Ser489Tyr)
c.1451C>A (p.Ser484Tyr)
c.956C>A (p.Ser319Tyr)
c.767C>A (p.Ser256Tyr)
10g.86718035C=CA1925632495LDB3n.515-692C=
c.1559C= (p.Ser520=)
c.1607C= (p.Ser536=)
c.1748C= (p.Ser583=)
c.1418C= (p.Ser473=)
c.1763C= (p.Ser588=)
c.2000C= (p.Ser667=)
c.1952C= (p.Ser651=)
c.1811C= (p.Ser604=)
c.1796C= (p.Ser599=)
c.1655C= (p.Ser552=)
c.1466C= (p.Ser489=)
c.1451C= (p.Ser484=)
c.956C= (p.Ser319=)
c.767C= (p.Ser256=)
10g.86718035C>GCA377452047LDB3n.515-692C>G
c.1559C>G (p.Ser520Cys)
c.1607C>G (p.Ser536Cys)
c.1748C>G (p.Ser583Cys)
c.1418C>G (p.Ser473Cys)
c.1763C>G (p.Ser588Cys)
c.2000C>G (p.Ser667Cys)
c.1952C>G (p.Ser651Cys)
c.1811C>G (p.Ser604Cys)
c.1796C>G (p.Ser599Cys)
c.1655C>G (p.Ser552Cys)
c.1466C>G (p.Ser489Cys)
c.1451C>G (p.Ser484Cys)
c.956C>G (p.Ser319Cys)
c.767C>G (p.Ser256Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86718035C>TCA377452045LDB3n.515-692C>T
c.1559C>T (p.Ser520Phe)
c.1607C>T (p.Ser536Phe)
c.1748C>T (p.Ser583Phe)
c.1418C>T (p.Ser473Phe)
c.1763C>T (p.Ser588Phe)
c.2000C>T (p.Ser667Phe)
c.1952C>T (p.Ser651Phe)
c.1811C>T (p.Ser604Phe)
c.1796C>T (p.Ser599Phe)
c.1655C>T (p.Ser552Phe)
c.1466C>T (p.Ser489Phe)
c.1451C>T (p.Ser484Phe)
c.956C>T (p.Ser319Phe)
c.767C>T (p.Ser256Phe)
 ClinVar dbSNP
10g.86718036C>ACA470308704LDB3n.515-691C>A
c.1560C>A (p.Ser520=)
c.1608C>A (p.Ser536=)
c.1749C>A (p.Ser583=)
c.1419C>A (p.Ser473=)
c.1764C>A (p.Ser588=)
c.2001C>A (p.Ser667=)
c.1953C>A (p.Ser651=)
c.1812C>A (p.Ser604=)
c.1797C>A (p.Ser599=)
c.1656C>A (p.Ser552=)
c.1467C>A (p.Ser489=)
c.1452C>A (p.Ser484=)
c.957C>A (p.Ser319=)
c.768C>A (p.Ser256=)
10g.86718036C=CA1925632496LDB3n.515-691C=
c.1560C= (p.Ser520=)
c.1608C= (p.Ser536=)
c.1749C= (p.Ser583=)
c.1419C= (p.Ser473=)
c.1764C= (p.Ser588=)
c.2001C= (p.Ser667=)
c.1953C= (p.Ser651=)
c.1812C= (p.Ser604=)
c.1797C= (p.Ser599=)
c.1656C= (p.Ser552=)
c.1467C= (p.Ser489=)
c.1452C= (p.Ser484=)
c.957C= (p.Ser319=)
c.768C= (p.Ser256=)
10g.86718036C>GCA470308705LDB3n.515-691C>G
c.1560C>G (p.Ser520=)
c.1608C>G (p.Ser536=)
c.1749C>G (p.Ser583=)
c.1419C>G (p.Ser473=)
c.1764C>G (p.Ser588=)
c.2001C>G (p.Ser667=)
c.1953C>G (p.Ser651=)
c.1812C>G (p.Ser604=)
c.1797C>G (p.Ser599=)
c.1656C>G (p.Ser552=)
c.1467C>G (p.Ser489=)
c.1452C>G (p.Ser484=)
c.957C>G (p.Ser319=)
c.768C>G (p.Ser256=)
 dbSNP
10g.86718036C>TCA470308707LDB3n.515-691C>T
c.1560C>T (p.Ser520=)
c.1608C>T (p.Ser536=)
c.1749C>T (p.Ser583=)
c.1419C>T (p.Ser473=)
c.1764C>T (p.Ser588=)
c.2001C>T (p.Ser667=)
c.1953C>T (p.Ser651=)
c.1812C>T (p.Ser604=)
c.1797C>T (p.Ser599=)
c.1656C>T (p.Ser552=)
c.1467C>T (p.Ser489=)
c.1452C>T (p.Ser484=)
c.957C>T (p.Ser319=)
c.768C>T (p.Ser256=)
 gnomAD v4
10g.86718037C>ACA377452050LDB3n.515-690C>A
c.1561C>A (p.Leu521Met)
c.1609C>A (p.Leu537Met)
c.1750C>A (p.Leu584Met)
c.1420C>A (p.Leu474Met)
c.1765C>A (p.Leu589Met)
c.2002C>A (p.Leu668Met)
c.1954C>A (p.Leu652Met)
c.1813C>A (p.Leu605Met)
c.1798C>A (p.Leu600Met)
c.1657C>A (p.Leu553Met)
c.1468C>A (p.Leu490Met)
c.1453C>A (p.Leu485Met)
c.958C>A (p.Leu320Met)
c.769C>A (p.Leu257Met)
10g.86718037C=CA1925632497LDB3n.515-690C=
c.1561C= (p.Leu521=)
c.1609C= (p.Leu537=)
c.1750C= (p.Leu584=)
c.1420C= (p.Leu474=)
c.1765C= (p.Leu589=)
c.2002C= (p.Leu668=)
c.1954C= (p.Leu652=)
c.1813C= (p.Leu605=)
c.1798C= (p.Leu600=)
c.1657C= (p.Leu553=)
c.1468C= (p.Leu490=)
c.1453C= (p.Leu485=)
c.958C= (p.Leu320=)
c.769C= (p.Leu257=)
10g.86718037C>GCA377452053LDB3n.515-690C>G
c.1561C>G (p.Leu521Val)
c.1609C>G (p.Leu537Val)
c.1750C>G (p.Leu584Val)
c.1420C>G (p.Leu474Val)
c.1765C>G (p.Leu589Val)
c.2002C>G (p.Leu668Val)
c.1954C>G (p.Leu652Val)
c.1813C>G (p.Leu605Val)
c.1798C>G (p.Leu600Val)
c.1657C>G (p.Leu553Val)
c.1468C>G (p.Leu490Val)
c.1453C>G (p.Leu485Val)
c.958C>G (p.Leu320Val)
c.769C>G (p.Leu257Val)
10g.86718037C>TCA5585227LDB3n.515-690C>T
c.1561C>T (p.Leu521=)
c.1609C>T (p.Leu537=)
c.1750C>T (p.Leu584=)
c.1420C>T (p.Leu474=)
c.1765C>T (p.Leu589=)
c.2002C>T (p.Leu668=)
c.1954C>T (p.Leu652=)
c.1813C>T (p.Leu605=)
c.1798C>T (p.Leu600=)
c.1657C>T (p.Leu553=)
c.1468C>T (p.Leu490=)
c.1453C>T (p.Leu485=)
c.958C>T (p.Leu320=)
c.769C>T (p.Leu257=)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86718038T>ACA377452057LDB3n.515-689T>A
c.1562T>A (p.Leu521Gln)
c.1610T>A (p.Leu537Gln)
c.1751T>A (p.Leu584Gln)
c.1421T>A (p.Leu474Gln)
c.1766T>A (p.Leu589Gln)
c.2003T>A (p.Leu668Gln)
c.1955T>A (p.Leu652Gln)
c.1814T>A (p.Leu605Gln)
c.1799T>A (p.Leu600Gln)
c.1658T>A (p.Leu553Gln)
c.1469T>A (p.Leu490Gln)
c.1454T>A (p.Leu485Gln)
c.959T>A (p.Leu320Gln)
c.770T>A (p.Leu257Gln)
10g.86718038T>CCA377452060LDB3n.515-689T>C
c.1562T>C (p.Leu521Pro)
c.1610T>C (p.Leu537Pro)
c.1751T>C (p.Leu584Pro)
c.1421T>C (p.Leu474Pro)
c.1766T>C (p.Leu589Pro)
c.2003T>C (p.Leu668Pro)
c.1955T>C (p.Leu652Pro)
c.1814T>C (p.Leu605Pro)
c.1799T>C (p.Leu600Pro)
c.1658T>C (p.Leu553Pro)
c.1469T>C (p.Leu490Pro)
c.1454T>C (p.Leu485Pro)
c.959T>C (p.Leu320Pro)
c.770T>C (p.Leu257Pro)
10g.86718038T>GCA377452059LDB3n.515-689T>G
c.1562T>G (p.Leu521Arg)
c.1610T>G (p.Leu537Arg)
c.1751T>G (p.Leu584Arg)
c.1421T>G (p.Leu474Arg)
c.1766T>G (p.Leu589Arg)
c.2003T>G (p.Leu668Arg)
c.1955T>G (p.Leu652Arg)
c.1814T>G (p.Leu605Arg)
c.1799T>G (p.Leu600Arg)
c.1658T>G (p.Leu553Arg)
c.1469T>G (p.Leu490Arg)
c.1454T>G (p.Leu485Arg)
c.959T>G (p.Leu320Arg)
c.770T>G (p.Leu257Arg)
 dbSNP
10g.86718038T=CA1925632498LDB3n.515-689T=
c.1562T= (p.Leu521=)
c.1610T= (p.Leu537=)
c.1751T= (p.Leu584=)
c.1421T= (p.Leu474=)
c.1766T= (p.Leu589=)
c.2003T= (p.Leu668=)
c.1955T= (p.Leu652=)
c.1814T= (p.Leu605=)
c.1799T= (p.Leu600=)
c.1658T= (p.Leu553=)
c.1469T= (p.Leu490=)
c.1454T= (p.Leu485=)
c.959T= (p.Leu320=)
c.770T= (p.Leu257=)
10g.86718039G>ACA470308709LDB3n.515-688G>A
c.1563G>A (p.Leu521=)
c.1611G>A (p.Leu537=)
c.1752G>A (p.Leu584=)
c.1422G>A (p.Leu474=)
c.1767G>A (p.Leu589=)
c.2004G>A (p.Leu668=)
c.1956G>A (p.Leu652=)
c.1815G>A (p.Leu605=)
c.1800G>A (p.Leu600=)
c.1659G>A (p.Leu553=)
c.1470G>A (p.Leu490=)
c.1455G>A (p.Leu485=)
c.960G>A (p.Leu320=)
c.771G>A (p.Leu257=)
10g.86718039G>CCA470308710LDB3n.515-688G>C
c.1563G>C (p.Leu521=)
c.1611G>C (p.Leu537=)
c.1752G>C (p.Leu584=)
c.1422G>C (p.Leu474=)
c.1767G>C (p.Leu589=)
c.2004G>C (p.Leu668=)
c.1956G>C (p.Leu652=)
c.1815G>C (p.Leu605=)
c.1800G>C (p.Leu600=)
c.1659G>C (p.Leu553=)
c.1470G>C (p.Leu490=)
c.1455G>C (p.Leu485=)
c.960G>C (p.Leu320=)
c.771G>C (p.Leu257=)
 ClinVar dbSNP gnomAD v4
10g.86718039G=CA1925632499LDB3n.515-688G=
c.1563G= (p.Leu521=)
c.1611G= (p.Leu537=)
c.1752G= (p.Leu584=)
c.1422G= (p.Leu474=)
c.1767G= (p.Leu589=)
c.2004G= (p.Leu668=)
c.1956G= (p.Leu652=)
c.1815G= (p.Leu605=)
c.1800G= (p.Leu600=)
c.1659G= (p.Leu553=)
c.1470G= (p.Leu490=)
c.1455G= (p.Leu485=)
c.960G= (p.Leu320=)
c.771G= (p.Leu257=)
10g.86718039G>TCA470308711LDB3n.515-688G>T
c.1563G>T (p.Leu521=)
c.1611G>T (p.Leu537=)
c.1752G>T (p.Leu584=)
c.1422G>T (p.Leu474=)
c.1767G>T (p.Leu589=)
c.2004G>T (p.Leu668=)
c.1956G>T (p.Leu652=)
c.1815G>T (p.Leu605=)
c.1800G>T (p.Leu600=)
c.1659G>T (p.Leu553=)
c.1470G>T (p.Leu490=)
c.1455G>T (p.Leu485=)
c.960G>T (p.Leu320=)
c.771G>T (p.Leu257=)
 ClinVar gnomAD v4
10g.86718040G>ACA377452064LDB3n.515-687G>A
c.1564G>A (p.Ala522Thr)
c.1612G>A (p.Ala538Thr)
c.1753G>A (p.Ala585Thr)
c.1423G>A (p.Ala475Thr)
c.1768G>A (p.Ala590Thr)
c.2005G>A (p.Ala669Thr)
c.1957G>A (p.Ala653Thr)
c.1816G>A (p.Ala606Thr)
c.1801G>A (p.Ala601Thr)
c.1660G>A (p.Ala554Thr)
c.1471G>A (p.Ala491Thr)
c.1456G>A (p.Ala486Thr)
c.961G>A (p.Ala321Thr)
c.772G>A (p.Ala258Thr)
10g.86718040G>CCA377452067LDB3n.515-687G>C
c.1564G>C (p.Ala522Pro)
c.1612G>C (p.Ala538Pro)
c.1753G>C (p.Ala585Pro)
c.1423G>C (p.Ala475Pro)
c.1768G>C (p.Ala590Pro)
c.2005G>C (p.Ala669Pro)
c.1957G>C (p.Ala653Pro)
c.1816G>C (p.Ala606Pro)
c.1801G>C (p.Ala601Pro)
c.1660G>C (p.Ala554Pro)
c.1471G>C (p.Ala491Pro)
c.1456G>C (p.Ala486Pro)
c.961G>C (p.Ala321Pro)
c.772G>C (p.Ala258Pro)
10g.86718040G=CA1925632500LDB3n.515-687G=
c.1564G= (p.Ala522=)
c.1612G= (p.Ala538=)
c.1753G= (p.Ala585=)
c.1423G= (p.Ala475=)
c.1768G= (p.Ala590=)
c.2005G= (p.Ala669=)
c.1957G= (p.Ala653=)
c.1816G= (p.Ala606=)
c.1801G= (p.Ala601=)
c.1660G= (p.Ala554=)
c.1471G= (p.Ala491=)
c.1456G= (p.Ala486=)
c.961G= (p.Ala321=)
c.772G= (p.Ala258=)
10g.86718040G>TCA377452070LDB3n.515-687G>T
c.1564G>T (p.Ala522Ser)
c.1612G>T (p.Ala538Ser)
c.1753G>T (p.Ala585Ser)
c.1423G>T (p.Ala475Ser)
c.1768G>T (p.Ala590Ser)
c.2005G>T (p.Ala669Ser)
c.1957G>T (p.Ala653Ser)
c.1816G>T (p.Ala606Ser)
c.1801G>T (p.Ala601Ser)
c.1660G>T (p.Ala554Ser)
c.1471G>T (p.Ala491Ser)
c.1456G>T (p.Ala486Ser)
c.961G>T (p.Ala321Ser)
c.772G>T (p.Ala258Ser)
 dbSNP
10g.86718041C>ACA377452073LDB3n.515-686C>A
c.1565C>A (p.Ala522Glu)
c.1613C>A (p.Ala538Glu)
c.1754C>A (p.Ala585Glu)
c.1424C>A (p.Ala475Glu)
c.1769C>A (p.Ala590Glu)
c.2006C>A (p.Ala669Glu)
c.1958C>A (p.Ala653Glu)
c.1817C>A (p.Ala606Glu)
c.1802C>A (p.Ala601Glu)
c.1661C>A (p.Ala554Glu)
c.1472C>A (p.Ala491Glu)
c.1457C>A (p.Ala486Glu)
c.962C>A (p.Ala321Glu)
c.773C>A (p.Ala258Glu)
 gnomAD v4
10g.86718041C>GCA377452075LDB3n.515-686C>G
c.1565C>G (p.Ala522Gly)
c.1613C>G (p.Ala538Gly)
c.1754C>G (p.Ala585Gly)
c.1424C>G (p.Ala475Gly)
c.1769C>G (p.Ala590Gly)
c.2006C>G (p.Ala669Gly)
c.1958C>G (p.Ala653Gly)
c.1817C>G (p.Ala606Gly)
c.1802C>G (p.Ala601Gly)
c.1661C>G (p.Ala554Gly)
c.1472C>G (p.Ala491Gly)
c.1457C>G (p.Ala486Gly)
c.962C>G (p.Ala321Gly)
c.773C>G (p.Ala258Gly)
10g.86718041C>TCA377452078LDB3n.515-686C>T
c.1565C>T (p.Ala522Val)
c.1613C>T (p.Ala538Val)
c.1754C>T (p.Ala585Val)
c.1424C>T (p.Ala475Val)
c.1769C>T (p.Ala590Val)
c.2006C>T (p.Ala669Val)
c.1958C>T (p.Ala653Val)
c.1817C>T (p.Ala606Val)
c.1802C>T (p.Ala601Val)
c.1661C>T (p.Ala554Val)
c.1472C>T (p.Ala491Val)
c.1457C>T (p.Ala486Val)
c.962C>T (p.Ala321Val)
c.773C>T (p.Ala258Val)
10g.86718042A=CA1925632501LDB3n.515-685A=
c.1566A= (p.Ala522=)
c.1614A= (p.Ala538=)
c.1755A= (p.Ala585=)
c.1425A= (p.Ala475=)
c.1770A= (p.Ala590=)
c.2007A= (p.Ala669=)
c.1959A= (p.Ala653=)
c.1818A= (p.Ala606=)
c.1803A= (p.Ala601=)
c.1662A= (p.Ala554=)
c.1473A= (p.Ala491=)
c.1458A= (p.Ala486=)
c.963A= (p.Ala321=)
c.774A= (p.Ala258=)
10g.86718042A>CCA470308713LDB3n.515-685A>C
c.1566A>C (p.Ala522=)
c.1614A>C (p.Ala538=)
c.1755A>C (p.Ala585=)
c.1425A>C (p.Ala475=)
c.1770A>C (p.Ala590=)
c.2007A>C (p.Ala669=)
c.1959A>C (p.Ala653=)
c.1818A>C (p.Ala606=)
c.1803A>C (p.Ala601=)
c.1662A>C (p.Ala554=)
c.1473A>C (p.Ala491=)
c.1458A>C (p.Ala486=)
c.963A>C (p.Ala321=)
c.774A>C (p.Ala258=)
10g.86718042A>GCA470308714LDB3n.515-685A>G
c.1566A>G (p.Ala522=)
c.1614A>G (p.Ala538=)
c.1755A>G (p.Ala585=)
c.1425A>G (p.Ala475=)
c.1770A>G (p.Ala590=)
c.2007A>G (p.Ala669=)
c.1959A>G (p.Ala653=)
c.1818A>G (p.Ala606=)
c.1803A>G (p.Ala601=)
c.1662A>G (p.Ala554=)
c.1473A>G (p.Ala491=)
c.1458A>G (p.Ala486=)
c.963A>G (p.Ala321=)
c.774A>G (p.Ala258=)
 dbSNP gnomAD v4
10g.86718042A>TCA470308715LDB3n.515-685A>T
c.1566A>T (p.Ala522=)
c.1614A>T (p.Ala538=)
c.1755A>T (p.Ala585=)
c.1425A>T (p.Ala475=)
c.1770A>T (p.Ala590=)
c.2007A>T (p.Ala669=)
c.1959A>T (p.Ala653=)
c.1818A>T (p.Ala606=)
c.1803A>T (p.Ala601=)
c.1662A>T (p.Ala554=)
c.1473A>T (p.Ala491=)
c.1458A>T (p.Ala486=)
c.963A>T (p.Ala321=)
c.774A>T (p.Ala258=)
10g.86718043G>ACA377452081LDB3n.515-684G>A
c.1567G>A (p.Asp523Asn)
c.1615G>A (p.Asp539Asn)
c.1756G>A (p.Asp586Asn)
c.1426G>A (p.Asp476Asn)
c.1771G>A (p.Asp591Asn)
c.2008G>A (p.Asp670Asn)
c.1960G>A (p.Asp654Asn)
c.1819G>A (p.Asp607Asn)
c.1804G>A (p.Asp602Asn)
c.1663G>A (p.Asp555Asn)
c.1474G>A (p.Asp492Asn)
c.1459G>A (p.Asp487Asn)
c.964G>A (p.Asp322Asn)
c.775G>A (p.Asp259Asn)
10g.86718043G>CCA377452083LDB3n.515-684G>C
c.1567G>C (p.Asp523His)
c.1615G>C (p.Asp539His)
c.1756G>C (p.Asp586His)
c.1426G>C (p.Asp476His)
c.1771G>C (p.Asp591His)
c.2008G>C (p.Asp670His)
c.1960G>C (p.Asp654His)
c.1819G>C (p.Asp607His)
c.1804G>C (p.Asp602His)
c.1663G>C (p.Asp555His)
c.1474G>C (p.Asp492His)
c.1459G>C (p.Asp487His)
c.964G>C (p.Asp322His)
c.775G>C (p.Asp259His)
10g.86718043G>TCA377452086LDB3n.515-684G>T
c.1567G>T (p.Asp523Tyr)
c.1615G>T (p.Asp539Tyr)
c.1756G>T (p.Asp586Tyr)
c.1426G>T (p.Asp476Tyr)
c.1771G>T (p.Asp591Tyr)
c.2008G>T (p.Asp670Tyr)
c.1960G>T (p.Asp654Tyr)
c.1819G>T (p.Asp607Tyr)
c.1804G>T (p.Asp602Tyr)
c.1663G>T (p.Asp555Tyr)
c.1474G>T (p.Asp492Tyr)
c.1459G>T (p.Asp487Tyr)
c.964G>T (p.Asp322Tyr)
c.775G>T (p.Asp259Tyr)
10g.86718044A>CCA377452090LDB3n.515-683A>C
c.1568A>C (p.Asp523Ala)
c.1616A>C (p.Asp539Ala)
c.1757A>C (p.Asp586Ala)
c.1427A>C (p.Asp476Ala)
c.1772A>C (p.Asp591Ala)
c.2009A>C (p.Asp670Ala)
c.1961A>C (p.Asp654Ala)
c.1820A>C (p.Asp607Ala)
c.1805A>C (p.Asp602Ala)
c.1664A>C (p.Asp555Ala)
c.1475A>C (p.Asp492Ala)
c.1460A>C (p.Asp487Ala)
c.965A>C (p.Asp322Ala)
c.776A>C (p.Asp259Ala)
10g.86718044A>GCA377452100LDB3n.515-683A>G
c.1568A>G (p.Asp523Gly)
c.1616A>G (p.Asp539Gly)
c.1757A>G (p.Asp586Gly)
c.1427A>G (p.Asp476Gly)
c.1772A>G (p.Asp591Gly)
c.2009A>G (p.Asp670Gly)
c.1961A>G (p.Asp654Gly)
c.1820A>G (p.Asp607Gly)
c.1805A>G (p.Asp602Gly)
c.1664A>G (p.Asp555Gly)
c.1475A>G (p.Asp492Gly)
c.1460A>G (p.Asp487Gly)
c.965A>G (p.Asp322Gly)
c.776A>G (p.Asp259Gly)
 gnomAD v4
10g.86718044A>TCA377452104LDB3n.515-683A>T
c.1568A>T (p.Asp523Val)
c.1616A>T (p.Asp539Val)
c.1757A>T (p.Asp586Val)
c.1427A>T (p.Asp476Val)
c.1772A>T (p.Asp591Val)
c.2009A>T (p.Asp670Val)
c.1961A>T (p.Asp654Val)
c.1820A>T (p.Asp607Val)
c.1805A>T (p.Asp602Val)
c.1664A>T (p.Asp555Val)
c.1475A>T (p.Asp492Val)
c.1460A>T (p.Asp487Val)
c.965A>T (p.Asp322Val)
c.776A>T (p.Asp259Val)
10g.86718045T>ACA377452111LDB3n.515-682T>A
c.1569T>A (p.Asp523Glu)
c.1617T>A (p.Asp539Glu)
c.1758T>A (p.Asp586Glu)
c.1428T>A (p.Asp476Glu)
c.1773T>A (p.Asp591Glu)
c.2010T>A (p.Asp670Glu)
c.1962T>A (p.Asp654Glu)
c.1821T>A (p.Asp607Glu)
c.1806T>A (p.Asp602Glu)
c.1665T>A (p.Asp555Glu)
c.1476T>A (p.Asp492Glu)
c.1461T>A (p.Asp487Glu)
c.966T>A (p.Asp322Glu)
c.777T>A (p.Asp259Glu)
10g.86718045T>CCA470308719LDB3n.515-682T>C
c.1569T>C (p.Asp523=)
c.1617T>C (p.Asp539=)
c.1758T>C (p.Asp586=)
c.1428T>C (p.Asp476=)
c.1773T>C (p.Asp591=)
c.2010T>C (p.Asp670=)
c.1962T>C (p.Asp654=)
c.1821T>C (p.Asp607=)
c.1806T>C (p.Asp602=)
c.1665T>C (p.Asp555=)
c.1476T>C (p.Asp492=)
c.1461T>C (p.Asp487=)
c.966T>C (p.Asp322=)
c.777T>C (p.Asp259=)
10g.86718045T>GCA377452108LDB3n.515-682T>G
c.1569T>G (p.Asp523Glu)
c.1617T>G (p.Asp539Glu)
c.1758T>G (p.Asp586Glu)
c.1428T>G (p.Asp476Glu)
c.1773T>G (p.Asp591Glu)
c.2010T>G (p.Asp670Glu)
c.1962T>G (p.Asp654Glu)
c.1821T>G (p.Asp607Glu)
c.1806T>G (p.Asp602Glu)
c.1665T>G (p.Asp555Glu)
c.1476T>G (p.Asp492Glu)
c.1461T>G (p.Asp487Glu)
c.966T>G (p.Asp322Glu)
c.777T>G (p.Asp259Glu)
10g.86718046G>ACA377452112LDB3n.515-681G>A
c.1570G>A (p.Val524Met)
c.1618G>A (p.Val540Met)
c.1759G>A (p.Val587Met)
c.1429G>A (p.Val477Met)
c.1774G>A (p.Val592Met)
c.2011G>A (p.Val671Met)
c.1963G>A (p.Val655Met)
c.1822G>A (p.Val608Met)
c.1807G>A (p.Val603Met)
c.1666G>A (p.Val556Met)
c.1477G>A (p.Val493Met)
c.1462G>A (p.Val488Met)
c.967G>A (p.Val323Met)
c.778G>A (p.Val260Met)
10g.86718046G>CCA377452114LDB3n.515-681G>C
c.1570G>C (p.Val524Leu)
c.1618G>C (p.Val540Leu)
c.1759G>C (p.Val587Leu)
c.1429G>C (p.Val477Leu)
c.1774G>C (p.Val592Leu)
c.2011G>C (p.Val671Leu)
c.1963G>C (p.Val655Leu)
c.1822G>C (p.Val608Leu)
c.1807G>C (p.Val603Leu)
c.1666G>C (p.Val556Leu)
c.1477G>C (p.Val493Leu)
c.1462G>C (p.Val488Leu)
c.967G>C (p.Val323Leu)
c.778G>C (p.Val260Leu)
10g.86718046G>TCA377452116LDB3n.515-681G>T
c.1570G>T (p.Val524Leu)
c.1618G>T (p.Val540Leu)
c.1759G>T (p.Val587Leu)
c.1429G>T (p.Val477Leu)
c.1774G>T (p.Val592Leu)
c.2011G>T (p.Val671Leu)
c.1963G>T (p.Val655Leu)
c.1822G>T (p.Val608Leu)
c.1807G>T (p.Val603Leu)
c.1666G>T (p.Val556Leu)
c.1477G>T (p.Val493Leu)
c.1462G>T (p.Val488Leu)
c.967G>T (p.Val323Leu)
c.778G>T (p.Val260Leu)
10g.86718047T>ACA377452119LDB3n.515-680T>A
c.1571T>A (p.Val524Glu)
c.1619T>A (p.Val540Glu)
c.1760T>A (p.Val587Glu)
c.1430T>A (p.Val477Glu)
c.1775T>A (p.Val592Glu)
c.2012T>A (p.Val671Glu)
c.1964T>A (p.Val655Glu)
c.1823T>A (p.Val608Glu)
c.1808T>A (p.Val603Glu)
c.1667T>A (p.Val556Glu)
c.1478T>A (p.Val493Glu)
c.1463T>A (p.Val488Glu)
c.968T>A (p.Val323Glu)
c.779T>A (p.Val260Glu)
10g.86718047T>CCA377452121LDB3n.515-680T>C
c.1571T>C (p.Val524Ala)
c.1619T>C (p.Val540Ala)
c.1760T>C (p.Val587Ala)
c.1430T>C (p.Val477Ala)
c.1775T>C (p.Val592Ala)
c.2012T>C (p.Val671Ala)
c.1964T>C (p.Val655Ala)
c.1823T>C (p.Val608Ala)
c.1808T>C (p.Val603Ala)
c.1667T>C (p.Val556Ala)
c.1478T>C (p.Val493Ala)
c.1463T>C (p.Val488Ala)
c.968T>C (p.Val323Ala)
c.779T>C (p.Val260Ala)
 ClinVar dbSNP gnomAD v4
10g.86718047T>GCA377452123LDB3n.515-680T>G
c.1571T>G (p.Val524Gly)
c.1619T>G (p.Val540Gly)
c.1760T>G (p.Val587Gly)
c.1430T>G (p.Val477Gly)
c.1775T>G (p.Val592Gly)
c.2012T>G (p.Val671Gly)
c.1964T>G (p.Val655Gly)
c.1823T>G (p.Val608Gly)
c.1808T>G (p.Val603Gly)
c.1667T>G (p.Val556Gly)
c.1478T>G (p.Val493Gly)
c.1463T>G (p.Val488Gly)
c.968T>G (p.Val323Gly)
c.779T>G (p.Val260Gly)
10g.86718047T=CA1925632502LDB3n.515-680T=
c.1571T= (p.Val524=)
c.1619T= (p.Val540=)
c.1760T= (p.Val587=)
c.1430T= (p.Val477=)
c.1775T= (p.Val592=)
c.2012T= (p.Val671=)
c.1964T= (p.Val655=)
c.1823T= (p.Val608=)
c.1808T= (p.Val603=)
c.1667T= (p.Val556=)
c.1478T= (p.Val493=)
c.1463T= (p.Val488=)
c.968T= (p.Val323=)
c.779T= (p.Val260=)
10g.86718048G>ACA470308727LDB3n.515-679G>A
c.1572G>A (p.Val524=)
c.1620G>A (p.Val540=)
c.1761G>A (p.Val587=)
c.1431G>A (p.Val477=)
c.1776G>A (p.Val592=)
c.2013G>A (p.Val671=)
c.1965G>A (p.Val655=)
c.1824G>A (p.Val608=)
c.1809G>A (p.Val603=)
c.1668G>A (p.Val556=)
c.1479G>A (p.Val493=)
c.1464G>A (p.Val488=)
c.969G>A (p.Val323=)
c.780G>A (p.Val260=)
10g.86718048G>CCA470308725LDB3n.515-679G>C
c.1572G>C (p.Val524=)
c.1620G>C (p.Val540=)
c.1761G>C (p.Val587=)
c.1431G>C (p.Val477=)
c.1776G>C (p.Val592=)
c.2013G>C (p.Val671=)
c.1965G>C (p.Val655=)
c.1824G>C (p.Val608=)
c.1809G>C (p.Val603=)
c.1668G>C (p.Val556=)
c.1479G>C (p.Val493=)
c.1464G>C (p.Val488=)
c.969G>C (p.Val323=)
c.780G>C (p.Val260=)
10g.86718048G>TCA470308726LDB3n.515-679G>T
c.1572G>T (p.Val524=)
c.1620G>T (p.Val540=)
c.1761G>T (p.Val587=)
c.1431G>T (p.Val477=)
c.1776G>T (p.Val592=)
c.2013G>T (p.Val671=)
c.1965G>T (p.Val655=)
c.1824G>T (p.Val608=)
c.1809G>T (p.Val603=)
c.1668G>T (p.Val556=)
c.1479G>T (p.Val493=)
c.1464G>T (p.Val488=)
c.969G>T (p.Val323=)
c.780G>T (p.Val260=)
10g.86718049T>ACA377452126LDB3n.515-678T>A
c.1573T>A (p.Cys525Ser)
c.1621T>A (p.Cys541Ser)
c.1762T>A (p.Cys588Ser)
c.1432T>A (p.Cys478Ser)
c.1777T>A (p.Cys593Ser)
c.2014T>A (p.Cys672Ser)
c.1966T>A (p.Cys656Ser)
c.1825T>A (p.Cys609Ser)
c.1810T>A (p.Cys604Ser)
c.1669T>A (p.Cys557Ser)
c.1480T>A (p.Cys494Ser)
c.1465T>A (p.Cys489Ser)
c.970T>A (p.Cys324Ser)
c.781T>A (p.Cys261Ser)
10g.86718049T>CCA377452127LDB3n.515-678T>C
c.1573T>C (p.Cys525Arg)
c.1621T>C (p.Cys541Arg)
c.1762T>C (p.Cys588Arg)
c.1432T>C (p.Cys478Arg)
c.1777T>C (p.Cys593Arg)
c.2014T>C (p.Cys672Arg)
c.1966T>C (p.Cys656Arg)
c.1825T>C (p.Cys609Arg)
c.1810T>C (p.Cys604Arg)
c.1669T>C (p.Cys557Arg)
c.1480T>C (p.Cys494Arg)
c.1465T>C (p.Cys489Arg)
c.970T>C (p.Cys324Arg)
c.781T>C (p.Cys261Arg)
10g.86718049T>GCA377452131LDB3n.515-678T>G
c.1573T>G (p.Cys525Gly)
c.1621T>G (p.Cys541Gly)
c.1762T>G (p.Cys588Gly)
c.1432T>G (p.Cys478Gly)
c.1777T>G (p.Cys593Gly)
c.2014T>G (p.Cys672Gly)
c.1966T>G (p.Cys656Gly)
c.1825T>G (p.Cys609Gly)
c.1810T>G (p.Cys604Gly)
c.1669T>G (p.Cys557Gly)
c.1480T>G (p.Cys494Gly)
c.1465T>G (p.Cys489Gly)
c.970T>G (p.Cys324Gly)
c.781T>G (p.Cys261Gly)
10g.86718050G>ACA377452133LDB3n.515-677G>A
c.1574G>A (p.Cys525Tyr)
c.1622G>A (p.Cys541Tyr)
c.1763G>A (p.Cys588Tyr)
c.1433G>A (p.Cys478Tyr)
c.1778G>A (p.Cys593Tyr)
c.2015G>A (p.Cys672Tyr)
c.1967G>A (p.Cys656Tyr)
c.1826G>A (p.Cys609Tyr)
c.1811G>A (p.Cys604Tyr)
c.1670G>A (p.Cys557Tyr)
c.1481G>A (p.Cys494Tyr)
c.1466G>A (p.Cys489Tyr)
c.971G>A (p.Cys324Tyr)
c.782G>A (p.Cys261Tyr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86718050G>CCA377452136LDB3n.515-677G>C
c.1574G>C (p.Cys525Ser)
c.1622G>C (p.Cys541Ser)
c.1763G>C (p.Cys588Ser)
c.1433G>C (p.Cys478Ser)
c.1778G>C (p.Cys593Ser)
c.2015G>C (p.Cys672Ser)
c.1967G>C (p.Cys656Ser)
c.1826G>C (p.Cys609Ser)
c.1811G>C (p.Cys604Ser)
c.1670G>C (p.Cys557Ser)
c.1481G>C (p.Cys494Ser)
c.1466G>C (p.Cys489Ser)
c.971G>C (p.Cys324Ser)
c.782G>C (p.Cys261Ser)
10g.86718050G=CA1925632503LDB3n.515-677G=
c.1574G= (p.Cys525=)
c.1622G= (p.Cys541=)
c.1763G= (p.Cys588=)
c.1433G= (p.Cys478=)
c.1778G= (p.Cys593=)
c.2015G= (p.Cys672=)
c.1967G= (p.Cys656=)
c.1826G= (p.Cys609=)
c.1811G= (p.Cys604=)
c.1670G= (p.Cys557=)
c.1481G= (p.Cys494=)
c.1466G= (p.Cys489=)
c.971G= (p.Cys324=)
c.782G= (p.Cys261=)
10g.86718050G>TCA377452138LDB3n.515-677G>T
c.1574G>T (p.Cys525Phe)
c.1622G>T (p.Cys541Phe)
c.1763G>T (p.Cys588Phe)
c.1433G>T (p.Cys478Phe)
c.1778G>T (p.Cys593Phe)
c.2015G>T (p.Cys672Phe)
c.1967G>T (p.Cys656Phe)
c.1826G>T (p.Cys609Phe)
c.1811G>T (p.Cys604Phe)
c.1670G>T (p.Cys557Phe)
c.1481G>T (p.Cys494Phe)
c.1466G>T (p.Cys489Phe)
c.971G>T (p.Cys324Phe)
c.782G>T (p.Cys261Phe)
10g.86718051C>ACA377452146LDB3n.515-676C>A
c.1575C>A (p.Cys525Ter)
c.1623C>A (p.Cys541Ter)
c.1764C>A (p.Cys588Ter)
c.1434C>A (p.Cys478Ter)
c.1779C>A (p.Cys593Ter)
c.2016C>A (p.Cys672Ter)
c.1968C>A (p.Cys656Ter)
c.1827C>A (p.Cys609Ter)
c.1812C>A (p.Cys604Ter)
c.1671C>A (p.Cys557Ter)
c.1482C>A (p.Cys494Ter)
c.1467C>A (p.Cys489Ter)
c.972C>A (p.Cys324Ter)
c.783C>A (p.Cys261Ter)
10g.86718051C>GCA377452140LDB3n.515-676C>G
c.1575C>G (p.Cys525Trp)
c.1623C>G (p.Cys541Trp)
c.1764C>G (p.Cys588Trp)
c.1434C>G (p.Cys478Trp)
c.1779C>G (p.Cys593Trp)
c.2016C>G (p.Cys672Trp)
c.1968C>G (p.Cys656Trp)
c.1827C>G (p.Cys609Trp)
c.1812C>G (p.Cys604Trp)
c.1671C>G (p.Cys557Trp)
c.1482C>G (p.Cys494Trp)
c.1467C>G (p.Cys489Trp)
c.972C>G (p.Cys324Trp)
c.783C>G (p.Cys261Trp)
10g.86718051C>TCA470308731LDB3n.515-676C>T
c.1575C>T (p.Cys525=)
c.1623C>T (p.Cys541=)
c.1764C>T (p.Cys588=)
c.1434C>T (p.Cys478=)
c.1779C>T (p.Cys593=)
c.2016C>T (p.Cys672=)
c.1968C>T (p.Cys656=)
c.1827C>T (p.Cys609=)
c.1812C>T (p.Cys604=)
c.1671C>T (p.Cys557=)
c.1482C>T (p.Cys494=)
c.1467C>T (p.Cys489=)
c.972C>T (p.Cys324=)
c.783C>T (p.Cys261=)
10g.86718052T>ACA377452148LDB3n.515-675T>A
c.1576T>A (p.Phe526Ile)
c.1624T>A (p.Phe542Ile)
c.1765T>A (p.Phe589Ile)
c.1435T>A (p.Phe479Ile)
c.1780T>A (p.Phe594Ile)
c.2017T>A (p.Phe673Ile)
c.1969T>A (p.Phe657Ile)
c.1828T>A (p.Phe610Ile)
c.1813T>A (p.Phe605Ile)
c.1672T>A (p.Phe558Ile)
c.1483T>A (p.Phe495Ile)
c.1468T>A (p.Phe490Ile)
c.973T>A (p.Phe325Ile)
c.784T>A (p.Phe262Ile)
10g.86718052T>CCA377452151LDB3n.515-675T>C
c.1576T>C (p.Phe526Leu)
c.1624T>C (p.Phe542Leu)
c.1765T>C (p.Phe589Leu)
c.1435T>C (p.Phe479Leu)
c.1780T>C (p.Phe594Leu)
c.2017T>C (p.Phe673Leu)
c.1969T>C (p.Phe657Leu)
c.1828T>C (p.Phe610Leu)
c.1813T>C (p.Phe605Leu)
c.1672T>C (p.Phe558Leu)
c.1483T>C (p.Phe495Leu)
c.1468T>C (p.Phe490Leu)
c.973T>C (p.Phe325Leu)
c.784T>C (p.Phe262Leu)
10g.86718052T>GCA377452153LDB3n.515-675T>G
c.1576T>G (p.Phe526Val)
c.1624T>G (p.Phe542Val)
c.1765T>G (p.Phe589Val)
c.1435T>G (p.Phe479Val)
c.1780T>G (p.Phe594Val)
c.2017T>G (p.Phe673Val)
c.1969T>G (p.Phe657Val)
c.1828T>G (p.Phe610Val)
c.1813T>G (p.Phe605Val)
c.1672T>G (p.Phe558Val)
c.1483T>G (p.Phe495Val)
c.1468T>G (p.Phe490Val)
c.973T>G (p.Phe325Val)
c.784T>G (p.Phe262Val)
10g.86718053T>ACA377452154LDB3n.515-674T>A
c.1577T>A (p.Phe526Tyr)
c.1625T>A (p.Phe542Tyr)
c.1766T>A (p.Phe589Tyr)
c.1436T>A (p.Phe479Tyr)
c.1781T>A (p.Phe594Tyr)
c.2018T>A (p.Phe673Tyr)
c.1970T>A (p.Phe657Tyr)
c.1829T>A (p.Phe610Tyr)
c.1814T>A (p.Phe605Tyr)
c.1673T>A (p.Phe558Tyr)
c.1484T>A (p.Phe495Tyr)
c.1469T>A (p.Phe490Tyr)
c.974T>A (p.Phe325Tyr)
c.785T>A (p.Phe262Tyr)
10g.86718053T>CCA377452157LDB3n.515-674T>C
c.1577T>C (p.Phe526Ser)
c.1625T>C (p.Phe542Ser)
c.1766T>C (p.Phe589Ser)
c.1436T>C (p.Phe479Ser)
c.1781T>C (p.Phe594Ser)
c.2018T>C (p.Phe673Ser)
c.1970T>C (p.Phe657Ser)
c.1829T>C (p.Phe610Ser)
c.1814T>C (p.Phe605Ser)
c.1673T>C (p.Phe558Ser)
c.1484T>C (p.Phe495Ser)
c.1469T>C (p.Phe490Ser)
c.974T>C (p.Phe325Ser)
c.785T>C (p.Phe262Ser)
10g.86718053T>GCA377452161LDB3n.515-674T>G
c.1577T>G (p.Phe526Cys)
c.1625T>G (p.Phe542Cys)
c.1766T>G (p.Phe589Cys)
c.1436T>G (p.Phe479Cys)
c.1781T>G (p.Phe594Cys)
c.2018T>G (p.Phe673Cys)
c.1970T>G (p.Phe657Cys)
c.1829T>G (p.Phe610Cys)
c.1814T>G (p.Phe605Cys)
c.1673T>G (p.Phe558Cys)
c.1484T>G (p.Phe495Cys)
c.1469T>G (p.Phe490Cys)
c.974T>G (p.Phe325Cys)
c.785T>G (p.Phe262Cys)
10g.86718054T>ACA377452164LDB3n.515-673T>A
c.1578T>A (p.Phe526Leu)
c.1626T>A (p.Phe542Leu)
c.1767T>A (p.Phe589Leu)
c.1437T>A (p.Phe479Leu)
c.1782T>A (p.Phe594Leu)
c.2019T>A (p.Phe673Leu)
c.1971T>A (p.Phe657Leu)
c.1830T>A (p.Phe610Leu)
c.1815T>A (p.Phe605Leu)
c.1674T>A (p.Phe558Leu)
c.1485T>A (p.Phe495Leu)
c.1470T>A (p.Phe490Leu)
c.975T>A (p.Phe325Leu)
c.786T>A (p.Phe262Leu)
10g.86718054T>CCA470308735LDB3n.515-673T>C
c.1578T>C (p.Phe526=)
c.1626T>C (p.Phe542=)
c.1767T>C (p.Phe589=)
c.1437T>C (p.Phe479=)
c.1782T>C (p.Phe594=)
c.2019T>C (p.Phe673=)
c.1971T>C (p.Phe657=)
c.1830T>C (p.Phe610=)
c.1815T>C (p.Phe605=)
c.1674T>C (p.Phe558=)
c.1485T>C (p.Phe495=)
c.1470T>C (p.Phe490=)
c.975T>C (p.Phe325=)
c.786T>C (p.Phe262=)
10g.86718054T>GCA377452162LDB3n.515-673T>G
c.1578T>G (p.Phe526Leu)
c.1626T>G (p.Phe542Leu)
c.1767T>G (p.Phe589Leu)
c.1437T>G (p.Phe479Leu)
c.1782T>G (p.Phe594Leu)
c.2019T>G (p.Phe673Leu)
c.1971T>G (p.Phe657Leu)
c.1830T>G (p.Phe610Leu)
c.1815T>G (p.Phe605Leu)
c.1674T>G (p.Phe558Leu)
c.1485T>G (p.Phe495Leu)
c.1470T>G (p.Phe490Leu)
c.975T>G (p.Phe325Leu)
c.786T>G (p.Phe262Leu)
10g.86718055G>ACA377452179LDB3n.515-672G>A
c.1579G>A (p.Val527Met)
c.1627G>A (p.Val543Met)
c.1768G>A (p.Val590Met)
c.1438G>A (p.Val480Met)
c.1783G>A (p.Val595Met)
c.2020G>A (p.Val674Met)
c.1972G>A (p.Val658Met)
c.1831G>A (p.Val611Met)
c.1816G>A (p.Val606Met)
c.1675G>A (p.Val559Met)
c.1486G>A (p.Val496Met)
c.1471G>A (p.Val491Met)
c.976G>A (p.Val326Met)
c.787G>A (p.Val263Met)
10g.86718055G>CCA377452182LDB3n.515-672G>C
c.1579G>C (p.Val527Leu)
c.1627G>C (p.Val543Leu)
c.1768G>C (p.Val590Leu)
c.1438G>C (p.Val480Leu)
c.1783G>C (p.Val595Leu)
c.2020G>C (p.Val674Leu)
c.1972G>C (p.Val658Leu)
c.1831G>C (p.Val611Leu)
c.1816G>C (p.Val606Leu)
c.1675G>C (p.Val559Leu)
c.1486G>C (p.Val496Leu)
c.1471G>C (p.Val491Leu)
c.976G>C (p.Val326Leu)
c.787G>C (p.Val263Leu)
10g.86718055G>TCA377452184LDB3n.515-672G>T
c.1579G>T (p.Val527Leu)
c.1627G>T (p.Val543Leu)
c.1768G>T (p.Val590Leu)
c.1438G>T (p.Val480Leu)
c.1783G>T (p.Val595Leu)
c.2020G>T (p.Val674Leu)
c.1972G>T (p.Val658Leu)
c.1831G>T (p.Val611Leu)
c.1816G>T (p.Val606Leu)
c.1675G>T (p.Val559Leu)
c.1486G>T (p.Val496Leu)
c.1471G>T (p.Val491Leu)
c.976G>T (p.Val326Leu)
c.787G>T (p.Val263Leu)
 gnomAD v4
10g.86718056T>ACA377452187LDB3n.515-671T>A
c.1580T>A (p.Val527Glu)
c.1628T>A (p.Val543Glu)
c.1769T>A (p.Val590Glu)
c.1439T>A (p.Val480Glu)
c.1784T>A (p.Val595Glu)
c.2021T>A (p.Val674Glu)
c.1973T>A (p.Val658Glu)
c.1832T>A (p.Val611Glu)
c.1817T>A (p.Val606Glu)
c.1676T>A (p.Val559Glu)
c.1487T>A (p.Val496Glu)
c.1472T>A (p.Val491Glu)
c.977T>A (p.Val326Glu)
c.788T>A (p.Val263Glu)
10g.86718056T>CCA377452189LDB3n.515-671T>C
c.1580T>C (p.Val527Ala)
c.1628T>C (p.Val543Ala)
c.1769T>C (p.Val590Ala)
c.1439T>C (p.Val480Ala)
c.1784T>C (p.Val595Ala)
c.2021T>C (p.Val674Ala)
c.1973T>C (p.Val658Ala)
c.1832T>C (p.Val611Ala)
c.1817T>C (p.Val606Ala)
c.1676T>C (p.Val559Ala)
c.1487T>C (p.Val496Ala)
c.1472T>C (p.Val491Ala)
c.977T>C (p.Val326Ala)
c.788T>C (p.Val263Ala)
 gnomAD v4
10g.86718056T>GCA377452190LDB3n.515-671T>G
c.1580T>G (p.Val527Gly)
c.1628T>G (p.Val543Gly)
c.1769T>G (p.Val590Gly)
c.1439T>G (p.Val480Gly)
c.1784T>G (p.Val595Gly)
c.2021T>G (p.Val674Gly)
c.1973T>G (p.Val658Gly)
c.1832T>G (p.Val611Gly)
c.1817T>G (p.Val606Gly)
c.1676T>G (p.Val559Gly)
c.1487T>G (p.Val496Gly)
c.1472T>G (p.Val491Gly)
c.977T>G (p.Val326Gly)
c.788T>G (p.Val263Gly)
10g.86718057G>ACA470308740LDB3n.515-670G>A
c.1581G>A (p.Val527=)
c.1629G>A (p.Val543=)
c.1770G>A (p.Val590=)
c.1440G>A (p.Val480=)
c.1785G>A (p.Val595=)
c.2022G>A (p.Val674=)
c.1974G>A (p.Val658=)
c.1833G>A (p.Val611=)
c.1818G>A (p.Val606=)
c.1677G>A (p.Val559=)
c.1488G>A (p.Val496=)
c.1473G>A (p.Val491=)
c.978G>A (p.Val326=)
c.789G>A (p.Val263=)
10g.86718057G>CCA470308741LDB3n.515-670G>C
c.1581G>C (p.Val527=)
c.1629G>C (p.Val543=)
c.1770G>C (p.Val590=)
c.1440G>C (p.Val480=)
c.1785G>C (p.Val595=)
c.2022G>C (p.Val674=)
c.1974G>C (p.Val658=)
c.1833G>C (p.Val611=)
c.1818G>C (p.Val606=)
c.1677G>C (p.Val559=)
c.1488G>C (p.Val496=)
c.1473G>C (p.Val491=)
c.978G>C (p.Val326=)
c.789G>C (p.Val263=)
10g.86718057G>TCA470308742LDB3n.515-670G>T
c.1581G>T (p.Val527=)
c.1629G>T (p.Val543=)
c.1770G>T (p.Val590=)
c.1440G>T (p.Val480=)
c.1785G>T (p.Val595=)
c.2022G>T (p.Val674=)
c.1974G>T (p.Val658=)
c.1833G>T (p.Val611=)
c.1818G>T (p.Val606=)
c.1677G>T (p.Val559=)
c.1488G>T (p.Val496=)
c.1473G>T (p.Val491=)
c.978G>T (p.Val326=)
c.789G>T (p.Val263=)
10g.86718058G>ACA377452191LDB3n.515-669G>A
c.1582G>A (p.Glu528Lys)
c.1630G>A (p.Glu544Lys)
c.1771G>A (p.Glu591Lys)
c.1441G>A (p.Glu481Lys)
c.1786G>A (p.Glu596Lys)
c.2023G>A (p.Glu675Lys)
c.1975G>A (p.Glu659Lys)
c.1834G>A (p.Glu612Lys)
c.1819G>A (p.Glu607Lys)
c.1678G>A (p.Glu560Lys)
c.1489G>A (p.Glu497Lys)
c.1474G>A (p.Glu492Lys)
c.979G>A (p.Glu327Lys)
c.790G>A (p.Glu264Lys)
 dbSNP gnomAD v4
10g.86718058G>CCA377452193LDB3n.515-669G>C
c.1582G>C (p.Glu528Gln)
c.1630G>C (p.Glu544Gln)
c.1771G>C (p.Glu591Gln)
c.1441G>C (p.Glu481Gln)
c.1786G>C (p.Glu596Gln)
c.2023G>C (p.Glu675Gln)
c.1975G>C (p.Glu659Gln)
c.1834G>C (p.Glu612Gln)
c.1819G>C (p.Glu607Gln)
c.1678G>C (p.Glu560Gln)
c.1489G>C (p.Glu497Gln)
c.1474G>C (p.Glu492Gln)
c.979G>C (p.Glu327Gln)
c.790G>C (p.Glu264Gln)
10g.86718058G=CA1925632505LDB3n.515-669G=
c.1582G= (p.Glu528=)
c.1630G= (p.Glu544=)
c.1771G= (p.Glu591=)
c.1441G= (p.Glu481=)
c.1786G= (p.Glu596=)
c.2023G= (p.Glu675=)
c.1975G= (p.Glu659=)
c.1834G= (p.Glu612=)
c.1819G= (p.Glu607=)
c.1678G= (p.Glu560=)
c.1489G= (p.Glu497=)
c.1474G= (p.Glu492=)
c.979G= (p.Glu327=)
c.790G= (p.Glu264=)
10g.86718058G>TCA377452192LDB3n.515-669G>T
c.1582G>T (p.Glu528Ter)
c.1630G>T (p.Glu544Ter)
c.1771G>T (p.Glu591Ter)
c.1441G>T (p.Glu481Ter)
c.1786G>T (p.Glu596Ter)
c.2023G>T (p.Glu675Ter)
c.1975G>T (p.Glu659Ter)
c.1834G>T (p.Glu612Ter)
c.1819G>T (p.Glu607Ter)
c.1678G>T (p.Glu560Ter)
c.1489G>T (p.Glu497Ter)
c.1474G>T (p.Glu492Ter)
c.979G>T (p.Glu327Ter)
c.790G>T (p.Glu264Ter)
10g.86718058_86718059delinsGACA1925632504LDB3n.515-669_515-668delinsGA
c.1582_1583delinsGA (p.Glu528=)
c.1630_1631delinsGA (p.Glu544=)
c.1771_1772delinsGA (p.Glu591=)
c.1441_1442delinsGA (p.Glu481=)
c.1786_1787delinsGA (p.Glu596=)
c.2023_2024delinsGA (p.Glu675=)
c.1975_1976delinsGA (p.Glu659=)
c.1834_1835delinsGA (p.Glu612=)
c.1819_1820delinsGA (p.Glu607=)
c.1678_1679delinsGA (p.Glu560=)
c.1489_1490delinsGA (p.Glu497=)
c.1474_1475delinsGA (p.Glu492=)
c.979_980delinsGA (p.Glu327=)
c.790_791delinsGA (p.Glu264=)
10g.86718059A=CA1925632506LDB3n.515-668A=
c.1583A= (p.Glu528=)
c.1631A= (p.Glu544=)
c.1772A= (p.Glu591=)
c.1442A= (p.Glu481=)
c.1787A= (p.Glu596=)
c.2024A= (p.Glu675=)
c.1976A= (p.Glu659=)
c.1835A= (p.Glu612=)
c.1820A= (p.Glu607=)
c.1679A= (p.Glu560=)
c.1490A= (p.Glu497=)
c.1475A= (p.Glu492=)
c.980A= (p.Glu327=)
c.791A= (p.Glu264=)
10g.86718059A>CCA377452194LDB3n.515-668A>C
c.1583A>C (p.Glu528Ala)
c.1631A>C (p.Glu544Ala)
c.1772A>C (p.Glu591Ala)
c.1442A>C (p.Glu481Ala)
c.1787A>C (p.Glu596Ala)
c.2024A>C (p.Glu675Ala)
c.1976A>C (p.Glu659Ala)
c.1835A>C (p.Glu612Ala)
c.1820A>C (p.Glu607Ala)
c.1679A>C (p.Glu560Ala)
c.1490A>C (p.Glu497Ala)
c.1475A>C (p.Glu492Ala)
c.980A>C (p.Glu327Ala)
c.791A>C (p.Glu264Ala)
10g.86718059A>GCA377452197LDB3n.515-668A>G
c.1583A>G (p.Glu528Gly)
c.1631A>G (p.Glu544Gly)
c.1772A>G (p.Glu591Gly)
c.1442A>G (p.Glu481Gly)
c.1787A>G (p.Glu596Gly)
c.2024A>G (p.Glu675Gly)
c.1976A>G (p.Glu659Gly)
c.1835A>G (p.Glu612Gly)
c.1820A>G (p.Glu607Gly)
c.1679A>G (p.Glu560Gly)
c.1490A>G (p.Glu497Gly)
c.1475A>G (p.Glu492Gly)
c.980A>G (p.Glu327Gly)
c.791A>G (p.Glu264Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86718059A>TCA377452199LDB3n.515-668A>T
c.1583A>T (p.Glu528Val)
c.1631A>T (p.Glu544Val)
c.1772A>T (p.Glu591Val)
c.1442A>T (p.Glu481Val)
c.1787A>T (p.Glu596Val)
c.2024A>T (p.Glu675Val)
c.1976A>T (p.Glu659Val)
c.1835A>T (p.Glu612Val)
c.1820A>T (p.Glu607Val)
c.1679A>T (p.Glu560Val)
c.1490A>T (p.Glu497Val)
c.1475A>T (p.Glu492Val)
c.980A>T (p.Glu327Val)
c.791A>T (p.Glu264Val)
10g.86718060delCA5585228LDB3n.515-667del
c.1584del (p.Glu529SerfsTer?)
c.1632del (p.Glu545SerfsTer?)
c.1773del (p.Glu592SerfsTer?)
c.1443del (p.Glu482SerfsTer?)
c.1788del (p.Glu597SerfsTer?)
c.2025del (p.Glu676SerfsTer?)
c.1977del (p.Glu660SerfsTer?)
c.1836del (p.Glu613SerfsTer?)
c.1821del (p.Glu608SerfsTer?)
c.1680del (p.Glu561SerfsTer?)
c.1491del (p.Glu498SerfsTer?)
c.1476del (p.Glu493SerfsTer?)
c.981del (p.Glu328SerfsTer?)
c.792del (p.Glu265SerfsTer?)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86718060A>CCA377452210LDB3n.515-667A>C
c.1584A>C (p.Glu528Asp)
c.1632A>C (p.Glu544Asp)
c.1773A>C (p.Glu591Asp)
c.1443A>C (p.Glu481Asp)
c.1788A>C (p.Glu596Asp)
c.2025A>C (p.Glu675Asp)
c.1977A>C (p.Glu659Asp)
c.1836A>C (p.Glu612Asp)
c.1821A>C (p.Glu607Asp)
c.1680A>C (p.Glu560Asp)
c.1491A>C (p.Glu497Asp)
c.1476A>C (p.Glu492Asp)
c.981A>C (p.Glu327Asp)
c.792A>C (p.Glu264Asp)
10g.86718060A>GCA470308748LDB3n.515-667A>G
c.1584A>G (p.Glu528=)
c.1632A>G (p.Glu544=)
c.1773A>G (p.Glu591=)
c.1443A>G (p.Glu481=)
c.1788A>G (p.Glu596=)
c.2025A>G (p.Glu675=)
c.1977A>G (p.Glu659=)
c.1836A>G (p.Glu612=)
c.1821A>G (p.Glu607=)
c.1680A>G (p.Glu560=)
c.1491A>G (p.Glu497=)
c.1476A>G (p.Glu492=)
c.981A>G (p.Glu327=)
c.792A>G (p.Glu264=)
10g.86718060A>TCA377452214LDB3n.515-667A>T
c.1584A>T (p.Glu528Asp)
c.1632A>T (p.Glu544Asp)
c.1773A>T (p.Glu591Asp)
c.1443A>T (p.Glu481Asp)
c.1788A>T (p.Glu596Asp)
c.2025A>T (p.Glu675Asp)
c.1977A>T (p.Glu659Asp)
c.1836A>T (p.Glu612Asp)
c.1821A>T (p.Glu607Asp)
c.1680A>T (p.Glu560Asp)
c.1491A>T (p.Glu497Asp)
c.1476A>T (p.Glu492Asp)
c.981A>T (p.Glu327Asp)
c.792A>T (p.Glu264Asp)
10g.86718061G>ACA377452218LDB3n.515-666G>A
c.1585G>A (p.Glu529Lys)
c.1633G>A (p.Glu545Lys)
c.1774G>A (p.Glu592Lys)
c.1444G>A (p.Glu482Lys)
c.1789G>A (p.Glu597Lys)
c.2026G>A (p.Glu676Lys)
c.1978G>A (p.Glu660Lys)
c.1837G>A (p.Glu613Lys)
c.1822G>A (p.Glu608Lys)
c.1681G>A (p.Glu561Lys)
c.1492G>A (p.Glu498Lys)
c.1477G>A (p.Glu493Lys)
c.982G>A (p.Glu328Lys)
c.793G>A (p.Glu265Lys)
10g.86718061G>CCA184647LDB3n.515-666G>C
c.1585G>C (p.Glu529Gln)
c.1633G>C (p.Glu545Gln)
c.1774G>C (p.Glu592Gln)
c.1444G>C (p.Glu482Gln)
c.1789G>C (p.Glu597Gln)
c.2026G>C (p.Glu676Gln)
c.1978G>C (p.Glu660Gln)
c.1837G>C (p.Glu613Gln)
c.1822G>C (p.Glu608Gln)
c.1681G>C (p.Glu561Gln)
c.1492G>C (p.Glu498Gln)
c.1477G>C (p.Glu493Gln)
c.982G>C (p.Glu328Gln)
c.793G>C (p.Glu265Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.86718061G=CA1925632507LDB3n.515-666G=
c.1585G= (p.Glu529=)
c.1633G= (p.Glu545=)
c.1774G= (p.Glu592=)
c.1444G= (p.Glu482=)
c.1789G= (p.Glu597=)
c.2026G= (p.Glu676=)
c.1978G= (p.Glu660=)
c.1837G= (p.Glu613=)
c.1822G= (p.Glu608=)
c.1681G= (p.Glu561=)
c.1492G= (p.Glu498=)
c.1477G= (p.Glu493=)
c.982G= (p.Glu328=)
c.793G= (p.Glu265=)
10g.86718061G>TCA377452225LDB3n.515-666G>T
c.1585G>T (p.Glu529Ter)
c.1633G>T (p.Glu545Ter)
c.1774G>T (p.Glu592Ter)
c.1444G>T (p.Glu482Ter)
c.1789G>T (p.Glu597Ter)
c.2026G>T (p.Glu676Ter)
c.1978G>T (p.Glu660Ter)
c.1837G>T (p.Glu613Ter)
c.1822G>T (p.Glu608Ter)
c.1681G>T (p.Glu561Ter)
c.1492G>T (p.Glu498Ter)
c.1477G>T (p.Glu493Ter)
c.982G>T (p.Glu328Ter)
c.793G>T (p.Glu265Ter)
 gnomAD v4
10g.86718062A=CA1925632508LDB3n.515-665A=
c.1586A= (p.Glu529=)
c.1634A= (p.Glu545=)
c.1775A= (p.Glu592=)
c.1445A= (p.Glu482=)
c.1790A= (p.Glu597=)
c.2027A= (p.Glu676=)
c.1979A= (p.Glu660=)
c.1838A= (p.Glu613=)
c.1823A= (p.Glu608=)
c.1682A= (p.Glu561=)
c.1493A= (p.Glu498=)
c.1478A= (p.Glu493=)
c.983A= (p.Glu328=)
c.794A= (p.Glu265=)
10g.86718062A>CCA377452227LDB3n.515-665A>C
c.1586A>C (p.Glu529Ala)
c.1634A>C (p.Glu545Ala)
c.1775A>C (p.Glu592Ala)
c.1445A>C (p.Glu482Ala)
c.1790A>C (p.Glu597Ala)
c.2027A>C (p.Glu676Ala)
c.1979A>C (p.Glu660Ala)
c.1838A>C (p.Glu613Ala)
c.1823A>C (p.Glu608Ala)
c.1682A>C (p.Glu561Ala)
c.1493A>C (p.Glu498Ala)
c.1478A>C (p.Glu493Ala)
c.983A>C (p.Glu328Ala)
c.794A>C (p.Glu265Ala)
10g.86718062A>GCA377452232LDB3n.515-665A>G
c.1586A>G (p.Glu529Gly)
c.1634A>G (p.Glu545Gly)
c.1775A>G (p.Glu592Gly)
c.1445A>G (p.Glu482Gly)
c.1790A>G (p.Glu597Gly)
c.2027A>G (p.Glu676Gly)
c.1979A>G (p.Glu660Gly)
c.1838A>G (p.Glu613Gly)
c.1823A>G (p.Glu608Gly)
c.1682A>G (p.Glu561Gly)
c.1493A>G (p.Glu498Gly)
c.1478A>G (p.Glu493Gly)
c.983A>G (p.Glu328Gly)
c.794A>G (p.Glu265Gly)
 dbSNP gnomAD v3 gnomAD v4
10g.86718062A>TCA377452236LDB3n.515-665A>T
c.1586A>T (p.Glu529Val)
c.1634A>T (p.Glu545Val)
c.1775A>T (p.Glu592Val)
c.1445A>T (p.Glu482Val)
c.1790A>T (p.Glu597Val)
c.2027A>T (p.Glu676Val)
c.1979A>T (p.Glu660Val)
c.1838A>T (p.Glu613Val)
c.1823A>T (p.Glu608Val)
c.1682A>T (p.Glu561Val)
c.1493A>T (p.Glu498Val)
c.1478A>T (p.Glu493Val)
c.983A>T (p.Glu328Val)
c.794A>T (p.Glu265Val)
10g.86718063G>ACA470308751LDB3n.515-664G>A
c.1587G>A (p.Glu529=)
c.1635G>A (p.Glu545=)
c.1776G>A (p.Glu592=)
c.1446G>A (p.Glu482=)
c.1791G>A (p.Glu597=)
c.2028G>A (p.Glu676=)
c.1980G>A (p.Glu660=)
c.1839G>A (p.Glu613=)
c.1824G>A (p.Glu608=)
c.1683G>A (p.Glu561=)
c.1494G>A (p.Glu498=)
c.1479G>A (p.Glu493=)
c.984G>A (p.Glu328=)
c.795G>A (p.Glu265=)
10g.86718063G>CCA377452239LDB3n.515-664G>C
c.1587G>C (p.Glu529Asp)
c.1635G>C (p.Glu545Asp)
c.1776G>C (p.Glu592Asp)
c.1446G>C (p.Glu482Asp)
c.1791G>C (p.Glu597Asp)
c.2028G>C (p.Glu676Asp)
c.1980G>C (p.Glu660Asp)
c.1839G>C (p.Glu613Asp)
c.1824G>C (p.Glu608Asp)
c.1683G>C (p.Glu561Asp)
c.1494G>C (p.Glu498Asp)
c.1479G>C (p.Glu493Asp)
c.984G>C (p.Glu328Asp)
c.795G>C (p.Glu265Asp)
10g.86718063G>TCA377452240LDB3n.515-664G>T
c.1587G>T (p.Glu529Asp)
c.1635G>T (p.Glu545Asp)
c.1776G>T (p.Glu592Asp)
c.1446G>T (p.Glu482Asp)
c.1791G>T (p.Glu597Asp)
c.2028G>T (p.Glu676Asp)
c.1980G>T (p.Glu660Asp)
c.1839G>T (p.Glu613Asp)
c.1824G>T (p.Glu608Asp)
c.1683G>T (p.Glu561Asp)
c.1494G>T (p.Glu498Asp)
c.1479G>T (p.Glu493Asp)
c.984G>T (p.Glu328Asp)
c.795G>T (p.Glu265Asp)
10g.86718064C>ACA377452243LDB3n.515-663C>A
c.1588C>A (p.Gln530Lys)
c.1636C>A (p.Gln546Lys)
c.1777C>A (p.Gln593Lys)
c.1447C>A (p.Gln483Lys)
c.1792C>A (p.Gln598Lys)
c.2029C>A (p.Gln677Lys)
c.1981C>A (p.Gln661Lys)
c.1840C>A (p.Gln614Lys)
c.1825C>A (p.Gln609Lys)
c.1684C>A (p.Gln562Lys)
c.1495C>A (p.Gln499Lys)
c.1480C>A (p.Gln494Lys)
c.985C>A (p.Gln329Lys)
c.796C>A (p.Gln266Lys)
 ClinVar dbSNP
10g.86718064C>GCA377452247LDB3n.515-663C>G
c.1588C>G (p.Gln530Glu)
c.1636C>G (p.Gln546Glu)
c.1777C>G (p.Gln593Glu)
c.1447C>G (p.Gln483Glu)
c.1792C>G (p.Gln598Glu)
c.2029C>G (p.Gln677Glu)
c.1981C>G (p.Gln661Glu)
c.1840C>G (p.Gln614Glu)
c.1825C>G (p.Gln609Glu)
c.1684C>G (p.Gln562Glu)
c.1495C>G (p.Gln499Glu)
c.1480C>G (p.Gln494Glu)
c.985C>G (p.Gln329Glu)
c.796C>G (p.Gln266Glu)
10g.86718064C>TCA377452244LDB3n.515-663C>T
c.1588C>T (p.Gln530Ter)
c.1636C>T (p.Gln546Ter)
c.1777C>T (p.Gln593Ter)
c.1447C>T (p.Gln483Ter)
c.1792C>T (p.Gln598Ter)
c.2029C>T (p.Gln677Ter)
c.1981C>T (p.Gln661Ter)
c.1840C>T (p.Gln614Ter)
c.1825C>T (p.Gln609Ter)
c.1684C>T (p.Gln562Ter)
c.1495C>T (p.Gln499Ter)
c.1480C>T (p.Gln494Ter)
c.985C>T (p.Gln329Ter)
c.796C>T (p.Gln266Ter)
10g.86718065A=CA1925632509LDB3n.515-662A=
c.1589A= (p.Gln530=)
c.1637A= (p.Gln546=)
c.1778A= (p.Gln593=)
c.1448A= (p.Gln483=)
c.1793A= (p.Gln598=)
c.2030A= (p.Gln677=)
c.1982A= (p.Gln661=)
c.1841A= (p.Gln614=)
c.1826A= (p.Gln609=)
c.1685A= (p.Gln562=)
c.1496A= (p.Gln499=)
c.1481A= (p.Gln494=)
c.986A= (p.Gln329=)
c.797A= (p.Gln266=)
10g.86718065A>CCA377452248LDB3n.515-662A>C
c.1589A>C (p.Gln530Pro)
c.1637A>C (p.Gln546Pro)
c.1778A>C (p.Gln593Pro)
c.1448A>C (p.Gln483Pro)
c.1793A>C (p.Gln598Pro)
c.2030A>C (p.Gln677Pro)
c.1982A>C (p.Gln661Pro)
c.1841A>C (p.Gln614Pro)
c.1826A>C (p.Gln609Pro)
c.1685A>C (p.Gln562Pro)
c.1496A>C (p.Gln499Pro)
c.1481A>C (p.Gln494Pro)
c.986A>C (p.Gln329Pro)
c.797A>C (p.Gln266Pro)
 dbSNP gnomAD v2 gnomAD v4
10g.86718065A>GCA377452249LDB3n.515-662A>G
c.1589A>G (p.Gln530Arg)
c.1637A>G (p.Gln546Arg)
c.1778A>G (p.Gln593Arg)
c.1448A>G (p.Gln483Arg)
c.1793A>G (p.Gln598Arg)
c.2030A>G (p.Gln677Arg)
c.1982A>G (p.Gln661Arg)
c.1841A>G (p.Gln614Arg)
c.1826A>G (p.Gln609Arg)
c.1685A>G (p.Gln562Arg)
c.1496A>G (p.Gln499Arg)
c.1481A>G (p.Gln494Arg)
c.986A>G (p.Gln329Arg)
c.797A>G (p.Gln266Arg)
10g.86718065A>TCA377452250LDB3n.515-662A>T
c.1589A>T (p.Gln530Leu)
c.1637A>T (p.Gln546Leu)
c.1778A>T (p.Gln593Leu)
c.1448A>T (p.Gln483Leu)
c.1793A>T (p.Gln598Leu)
c.2030A>T (p.Gln677Leu)
c.1982A>T (p.Gln661Leu)
c.1841A>T (p.Gln614Leu)
c.1826A>T (p.Gln609Leu)
c.1685A>T (p.Gln562Leu)
c.1496A>T (p.Gln499Leu)
c.1481A>T (p.Gln494Leu)
c.986A>T (p.Gln329Leu)
c.797A>T (p.Gln266Leu)
10g.86718066G>ACA470308753LDB3n.515-661G>A
c.1590G>A (p.Gln530=)
c.1638G>A (p.Gln546=)
c.1779G>A (p.Gln593=)
c.1449G>A (p.Gln483=)
c.1794G>A (p.Gln598=)
c.2031G>A (p.Gln677=)
c.1983G>A (p.Gln661=)
c.1842G>A (p.Gln614=)
c.1827G>A (p.Gln609=)
c.1686G>A (p.Gln562=)
c.1497G>A (p.Gln499=)
c.1482G>A (p.Gln494=)
c.987G>A (p.Gln329=)
c.798G>A (p.Gln266=)
 ClinVar dbSNP
10g.86718066G>CCA377452251LDB3n.515-661G>C
c.1590G>C (p.Gln530His)
c.1638G>C (p.Gln546His)
c.1779G>C (p.Gln593His)
c.1449G>C (p.Gln483His)
c.1794G>C (p.Gln598His)
c.2031G>C (p.Gln677His)
c.1983G>C (p.Gln661His)
c.1842G>C (p.Gln614His)
c.1827G>C (p.Gln609His)
c.1686G>C (p.Gln562His)
c.1497G>C (p.Gln499His)
c.1482G>C (p.Gln494His)
c.987G>C (p.Gln329His)
c.798G>C (p.Gln266His)
 ClinVar dbSNP gnomAD v4
10g.86718066G=CA1925632510LDB3n.515-661G=
c.1590G= (p.Gln530=)
c.1638G= (p.Gln546=)
c.1779G= (p.Gln593=)
c.1449G= (p.Gln483=)
c.1794G= (p.Gln598=)
c.2031G= (p.Gln677=)
c.1983G= (p.Gln661=)
c.1842G= (p.Gln614=)
c.1827G= (p.Gln609=)
c.1686G= (p.Gln562=)
c.1497G= (p.Gln499=)
c.1482G= (p.Gln494=)
c.987G= (p.Gln329=)
c.798G= (p.Gln266=)
10g.86718066G>TCA377452252LDB3n.515-661G>T
c.1590G>T (p.Gln530His)
c.1638G>T (p.Gln546His)
c.1779G>T (p.Gln593His)
c.1449G>T (p.Gln483His)
c.1794G>T (p.Gln598His)
c.2031G>T (p.Gln677His)
c.1983G>T (p.Gln661His)
c.1842G>T (p.Gln614His)
c.1827G>T (p.Gln609His)
c.1686G>T (p.Gln562His)
c.1497G>T (p.Gln499His)
c.1482G>T (p.Gln494His)
c.987G>T (p.Gln329His)
c.798G>T (p.Gln266His)
10g.86718066_86718069delinsGAACCA1925632511LDB3n.515-661_515-658delinsGAAC
c.1590_1593delinsGAAC (p.Gln530=)
c.1638_1641delinsGAAC (p.Gln546=)
c.1779_1782delinsGAAC (p.Gln593=)
c.1449_1452delinsGAAC (p.Gln483=)
c.1794_1797delinsGAAC (p.Gln598=)
c.2031_2034delinsGAAC (p.Gln677=)
c.1983_1986delinsGAAC (p.Gln661=)
c.1842_1845delinsGAAC (p.Gln614=)
c.1827_1830delinsGAAC (p.Gln609=)
c.1686_1689delinsGAAC (p.Gln562=)
c.1497_1500delinsGAAC (p.Gln499=)
c.1482_1485delinsGAAC (p.Gln494=)
c.987_990delinsGAAC (p.Gln329=)
c.798_801delinsGAAC (p.Gln266=)
10g.86718067A>CCA377452255LDB3n.515-660A>C
c.1591A>C (p.Asn531His)
c.1639A>C (p.Asn547His)
c.1780A>C (p.Asn594His)
c.1450A>C (p.Asn484His)
c.1795A>C (p.Asn599His)
c.2032A>C (p.Asn678His)
c.1984A>C (p.Asn662His)
c.1843A>C (p.Asn615His)
c.1828A>C (p.Asn610His)
c.1687A>C (p.Asn563His)
c.1498A>C (p.Asn500His)
c.1483A>C (p.Asn495His)
c.988A>C (p.Asn330His)
c.799A>C (p.Asn267His)
10g.86718067A>GCA377452258LDB3n.515-660A>G
c.1591A>G (p.Asn531Asp)
c.1639A>G (p.Asn547Asp)
c.1780A>G (p.Asn594Asp)
c.1450A>G (p.Asn484Asp)
c.1795A>G (p.Asn599Asp)
c.2032A>G (p.Asn678Asp)
c.1984A>G (p.Asn662Asp)
c.1843A>G (p.Asn615Asp)
c.1828A>G (p.Asn610Asp)
c.1687A>G (p.Asn563Asp)
c.1498A>G (p.Asn500Asp)
c.1483A>G (p.Asn495Asp)
c.988A>G (p.Asn330Asp)
c.799A>G (p.Asn267Asp)
10g.86718067A>TCA377452265LDB3n.515-660A>T
c.1591A>T (p.Asn531Tyr)
c.1639A>T (p.Asn547Tyr)
c.1780A>T (p.Asn594Tyr)
c.1450A>T (p.Asn484Tyr)
c.1795A>T (p.Asn599Tyr)
c.2032A>T (p.Asn678Tyr)
c.1984A>T (p.Asn662Tyr)
c.1843A>T (p.Asn615Tyr)
c.1828A>T (p.Asn610Tyr)
c.1687A>T (p.Asn563Tyr)
c.1498A>T (p.Asn500Tyr)
c.1483A>T (p.Asn495Tyr)
c.988A>T (p.Asn330Tyr)
c.799A>T (p.Asn267Tyr)
10g.86718070_86718072delCA658797457LDB3n.515-657_515-655del
c.1594_1596del (p.Asn532del)
c.1642_1644del (p.Asn548del)
c.1783_1785del (p.Asn595del)
c.1453_1455del (p.Asn485del)
c.1798_1800del (p.Asn600del)
c.2035_2037del (p.Asn679del)
c.1987_1989del (p.Asn663del)
c.1846_1848del (p.Asn616del)
c.1831_1833del (p.Asn611del)
c.1690_1692del (p.Asn564del)
c.1501_1503del (p.Asn501del)
c.1486_1488del (p.Asn496del)
c.991_993del (p.Asn331del)
c.802_804del (p.Asn268del)
 ClinVar dbSNP
10g.86718068A=CA1925632512LDB3n.515-659A=
c.1592A= (p.Asn531=)
c.1640A= (p.Asn547=)
c.1781A= (p.Asn594=)
c.1451A= (p.Asn484=)
c.1796A= (p.Asn599=)
c.2033A= (p.Asn678=)
c.1985A= (p.Asn662=)
c.1844A= (p.Asn615=)
c.1829A= (p.Asn610=)
c.1688A= (p.Asn563=)
c.1499A= (p.Asn500=)
c.1484A= (p.Asn495=)
c.989A= (p.Asn330=)
c.800A= (p.Asn267=)
10g.86718068A>CCA377452268LDB3n.515-659A>C
c.1592A>C (p.Asn531Thr)
c.1640A>C (p.Asn547Thr)
c.1781A>C (p.Asn594Thr)
c.1451A>C (p.Asn484Thr)
c.1796A>C (p.Asn599Thr)
c.2033A>C (p.Asn678Thr)
c.1985A>C (p.Asn662Thr)
c.1844A>C (p.Asn615Thr)
c.1829A>C (p.Asn610Thr)
c.1688A>C (p.Asn563Thr)
c.1499A>C (p.Asn500Thr)
c.1484A>C (p.Asn495Thr)
c.989A>C (p.Asn330Thr)
c.800A>C (p.Asn267Thr)
10g.86718068A>GCA377452269LDB3n.515-659A>G
c.1592A>G (p.Asn531Ser)
c.1640A>G (p.Asn547Ser)
c.1781A>G (p.Asn594Ser)
c.1451A>G (p.Asn484Ser)
c.1796A>G (p.Asn599Ser)
c.2033A>G (p.Asn678Ser)
c.1985A>G (p.Asn662Ser)
c.1844A>G (p.Asn615Ser)
c.1829A>G (p.Asn610Ser)
c.1688A>G (p.Asn563Ser)
c.1499A>G (p.Asn500Ser)
c.1484A>G (p.Asn495Ser)
c.989A>G (p.Asn330Ser)
c.800A>G (p.Asn267Ser)
 dbSNP
10g.86718068A>TCA377452270LDB3n.515-659A>T
c.1592A>T (p.Asn531Ile)
c.1640A>T (p.Asn547Ile)
c.1781A>T (p.Asn594Ile)
c.1451A>T (p.Asn484Ile)
c.1796A>T (p.Asn599Ile)
c.2033A>T (p.Asn678Ile)
c.1985A>T (p.Asn662Ile)
c.1844A>T (p.Asn615Ile)
c.1829A>T (p.Asn610Ile)
c.1688A>T (p.Asn563Ile)
c.1499A>T (p.Asn500Ile)
c.1484A>T (p.Asn495Ile)
c.989A>T (p.Asn330Ile)
c.800A>T (p.Asn267Ile)
10g.86718069C>ACA5585229LDB3n.515-658C>A
c.1593C>A (p.Asn531Lys)
c.1641C>A (p.Asn547Lys)
c.1782C>A (p.Asn594Lys)
c.1452C>A (p.Asn484Lys)
c.1797C>A (p.Asn599Lys)
c.2034C>A (p.Asn678Lys)
c.1986C>A (p.Asn662Lys)
c.1845C>A (p.Asn615Lys)
c.1830C>A (p.Asn610Lys)
c.1689C>A (p.Asn563Lys)
c.1500C>A (p.Asn500Lys)
c.1485C>A (p.Asn495Lys)
c.990C>A (p.Asn330Lys)
c.801C>A (p.Asn267Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
10g.86718069C=CA1925632513LDB3n.515-658C=
c.1593C= (p.Asn531=)
c.1641C= (p.Asn547=)
c.1782C= (p.Asn594=)
c.1452C= (p.Asn484=)
c.1797C= (p.Asn599=)
c.2034C= (p.Asn678=)
c.1986C= (p.Asn662=)
c.1845C= (p.Asn615=)
c.1830C= (p.Asn610=)
c.1689C= (p.Asn563=)
c.1500C= (p.Asn500=)
c.1485C= (p.Asn495=)
c.990C= (p.Asn330=)
c.801C= (p.Asn267=)
10g.86718069C>GCA377452276LDB3n.515-658C>G
c.1593C>G (p.Asn531Lys)
c.1641C>G (p.Asn547Lys)
c.1782C>G (p.Asn594Lys)
c.1452C>G (p.Asn484Lys)
c.1797C>G (p.Asn599Lys)
c.2034C>G (p.Asn678Lys)
c.1986C>G (p.Asn662Lys)
c.1845C>G (p.Asn615Lys)
c.1830C>G (p.Asn610Lys)
c.1689C>G (p.Asn563Lys)
c.1500C>G (p.Asn500Lys)
c.1485C>G (p.Asn495Lys)
c.990C>G (p.Asn330Lys)
c.801C>G (p.Asn267Lys)
10g.86718069C>TCA470308755LDB3n.515-658C>T
c.1593C>T (p.Asn531=)
c.1641C>T (p.Asn547=)
c.1782C>T (p.Asn594=)
c.1452C>T (p.Asn484=)
c.1797C>T (p.Asn599=)
c.2034C>T (p.Asn678=)
c.1986C>T (p.Asn662=)
c.1845C>T (p.Asn615=)
c.1830C>T (p.Asn610=)
c.1689C>T (p.Asn563=)
c.1500C>T (p.Asn500=)
c.1485C>T (p.Asn495=)
c.990C>T (p.Asn330=)
c.801C>T (p.Asn267=)
10g.86718070A>CCA377452280LDB3n.515-657A>C
c.1594A>C (p.Asn532His)
c.1642A>C (p.Asn548His)
c.1783A>C (p.Asn595His)
c.1453A>C (p.Asn485His)
c.1798A>C (p.Asn600His)
c.2035A>C (p.Asn679His)
c.1987A>C (p.Asn663His)
c.1846A>C (p.Asn616His)
c.1831A>C (p.Asn611His)
c.1690A>C (p.Asn564His)
c.1501A>C (p.Asn501His)
c.1486A>C (p.Asn496His)
c.991A>C (p.Asn331His)
c.802A>C (p.Asn268His)
10g.86718070A>GCA377452284LDB3n.515-657A>G
c.1594A>G (p.Asn532Asp)
c.1642A>G (p.Asn548Asp)
c.1783A>G (p.Asn595Asp)
c.1453A>G (p.Asn485Asp)
c.1798A>G (p.Asn600Asp)
c.2035A>G (p.Asn679Asp)
c.1987A>G (p.Asn663Asp)
c.1846A>G (p.Asn616Asp)
c.1831A>G (p.Asn611Asp)
c.1690A>G (p.Asn564Asp)
c.1501A>G (p.Asn501Asp)
c.1486A>G (p.Asn496Asp)
c.991A>G (p.Asn331Asp)
c.802A>G (p.Asn268Asp)
10g.86718070A>TCA377452289LDB3n.515-657A>T
c.1594A>T (p.Asn532Tyr)
c.1642A>T (p.Asn548Tyr)
c.1783A>T (p.Asn595Tyr)
c.1453A>T (p.Asn485Tyr)
c.1798A>T (p.Asn600Tyr)
c.2035A>T (p.Asn679Tyr)
c.1987A>T (p.Asn663Tyr)
c.1846A>T (p.Asn616Tyr)
c.1831A>T (p.Asn611Tyr)
c.1690A>T (p.Asn564Tyr)
c.1501A>T (p.Asn501Tyr)
c.1486A>T (p.Asn496Tyr)
c.991A>T (p.Asn331Tyr)
c.802A>T (p.Asn268Tyr)
10g.86718071A=CA1925632514LDB3n.515-656A=
c.1595A= (p.Asn532=)
c.1643A= (p.Asn548=)
c.1784A= (p.Asn595=)
c.1454A= (p.Asn485=)
c.1799A= (p.Asn600=)
c.2036A= (p.Asn679=)
c.1988A= (p.Asn663=)
c.1847A= (p.Asn616=)
c.1832A= (p.Asn611=)
c.1691A= (p.Asn564=)
c.1502A= (p.Asn501=)
c.1487A= (p.Asn496=)
c.992A= (p.Asn331=)
c.803A= (p.Asn268=)
10g.86718071A>CCA377452292LDB3n.515-656A>C
c.1595A>C (p.Asn532Thr)
c.1643A>C (p.Asn548Thr)
c.1784A>C (p.Asn595Thr)
c.1454A>C (p.Asn485Thr)
c.1799A>C (p.Asn600Thr)
c.2036A>C (p.Asn679Thr)
c.1988A>C (p.Asn663Thr)
c.1847A>C (p.Asn616Thr)
c.1832A>C (p.Asn611Thr)
c.1691A>C (p.Asn564Thr)
c.1502A>C (p.Asn501Thr)
c.1487A>C (p.Asn496Thr)
c.992A>C (p.Asn331Thr)
c.803A>C (p.Asn268Thr)
10g.86718071A>GCA377452302LDB3n.515-656A>G
c.1595A>G (p.Asn532Ser)
c.1643A>G (p.Asn548Ser)
c.1784A>G (p.Asn595Ser)
c.1454A>G (p.Asn485Ser)
c.1799A>G (p.Asn600Ser)
c.2036A>G (p.Asn679Ser)
c.1988A>G (p.Asn663Ser)
c.1847A>G (p.Asn616Ser)
c.1832A>G (p.Asn611Ser)
c.1691A>G (p.Asn564Ser)
c.1502A>G (p.Asn501Ser)
c.1487A>G (p.Asn496Ser)
c.992A>G (p.Asn331Ser)
c.803A>G (p.Asn268Ser)
 dbSNP gnomAD v3 gnomAD v4
10g.86718071A>TCA377452305LDB3n.515-656A>T
c.1595A>T (p.Asn532Ile)
c.1643A>T (p.Asn548Ile)
c.1784A>T (p.Asn595Ile)
c.1454A>T (p.Asn485Ile)
c.1799A>T (p.Asn600Ile)
c.2036A>T (p.Asn679Ile)
c.1988A>T (p.Asn663Ile)
c.1847A>T (p.Asn616Ile)
c.1832A>T (p.Asn611Ile)
c.1691A>T (p.Asn564Ile)
c.1502A>T (p.Asn501Ile)
c.1487A>T (p.Asn496Ile)
c.992A>T (p.Asn331Ile)
c.803A>T (p.Asn268Ile)
10g.86718072C>ACA377452315LDB3n.515-655C>A
c.1596C>A (p.Asn532Lys)
c.1644C>A (p.Asn548Lys)
c.1785C>A (p.Asn595Lys)
c.1455C>A (p.Asn485Lys)
c.1800C>A (p.Asn600Lys)
c.2037C>A (p.Asn679Lys)
c.1989C>A (p.Asn663Lys)
c.1848C>A (p.Asn616Lys)
c.1833C>A (p.Asn611Lys)
c.1692C>A (p.Asn564Lys)
c.1503C>A (p.Asn501Lys)
c.1488C>A (p.Asn496Lys)
c.993C>A (p.Asn331Lys)
c.804C>A (p.Asn268Lys)
10g.86718072C=CA1925632515LDB3n.515-655C=
c.1596C= (p.Asn532=)
c.1644C= (p.Asn548=)
c.1785C= (p.Asn595=)
c.1455C= (p.Asn485=)
c.1800C= (p.Asn600=)
c.2037C= (p.Asn679=)
c.1989C= (p.Asn663=)
c.1848C= (p.Asn616=)
c.1833C= (p.Asn611=)
c.1692C= (p.Asn564=)
c.1503C= (p.Asn501=)
c.1488C= (p.Asn496=)
c.993C= (p.Asn331=)
c.804C= (p.Asn268=)
10g.86718072C>GCA377452316LDB3n.515-655C>G
c.1596C>G (p.Asn532Lys)
c.1644C>G (p.Asn548Lys)
c.1785C>G (p.Asn595Lys)
c.1455C>G (p.Asn485Lys)
c.1800C>G (p.Asn600Lys)
c.2037C>G (p.Asn679Lys)
c.1989C>G (p.Asn663Lys)
c.1848C>G (p.Asn616Lys)
c.1833C>G (p.Asn611Lys)
c.1692C>G (p.Asn564Lys)
c.1503C>G (p.Asn501Lys)
c.1488C>G (p.Asn496Lys)
c.993C>G (p.Asn331Lys)
c.804C>G (p.Asn268Lys)
 dbSNP gnomAD v3 gnomAD v4
10g.86718072C>TCA5585230LDB3n.515-655C>T
c.1596C>T (p.Asn532=)
c.1644C>T (p.Asn548=)
c.1785C>T (p.Asn595=)
c.1455C>T (p.Asn485=)
c.1800C>T (p.Asn600=)
c.2037C>T (p.Asn679=)
c.1989C>T (p.Asn663=)
c.1848C>T (p.Asn616=)
c.1833C>T (p.Asn611=)
c.1692C>T (p.Asn564=)
c.1503C>T (p.Asn501=)
c.1488C>T (p.Asn496=)
c.993C>T (p.Asn331=)
c.804C>T (p.Asn268=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86718073G>ACA176558LDB3n.515-654G>A
c.1597G>A (p.Val533Ile)
c.1645G>A (p.Val549Ile)
c.1786G>A (p.Val596Ile)
c.1456G>A (p.Val486Ile)
c.1801G>A (p.Val601Ile)
c.2038G>A (p.Val680Ile)
c.1990G>A (p.Val664Ile)
c.1849G>A (p.Val617Ile)
c.1834G>A (p.Val612Ile)
c.1693G>A (p.Val565Ile)
c.1504G>A (p.Val502Ile)
c.1489G>A (p.Val497Ile)
c.994G>A (p.Val332Ile)
c.805G>A (p.Val269Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86718073G>CCA377452330LDB3n.515-654G>C
c.1597G>C (p.Val533Leu)
c.1645G>C (p.Val549Leu)
c.1786G>C (p.Val596Leu)
c.1456G>C (p.Val486Leu)
c.1801G>C (p.Val601Leu)
c.2038G>C (p.Val680Leu)
c.1990G>C (p.Val664Leu)
c.1849G>C (p.Val617Leu)
c.1834G>C (p.Val612Leu)
c.1693G>C (p.Val565Leu)
c.1504G>C (p.Val502Leu)
c.1489G>C (p.Val497Leu)
c.994G>C (p.Val332Leu)
c.805G>C (p.Val269Leu)
10g.86718073G=CA1925632516LDB3n.515-654G=
c.1597G= (p.Val533=)
c.1645G= (p.Val549=)
c.1786G= (p.Val596=)
c.1456G= (p.Val486=)
c.1801G= (p.Val601=)
c.2038G= (p.Val680=)
c.1990G= (p.Val664=)
c.1849G= (p.Val617=)
c.1834G= (p.Val612=)
c.1693G= (p.Val565=)
c.1504G= (p.Val502=)
c.1489G= (p.Val497=)
c.994G= (p.Val332=)
c.805G= (p.Val269=)
10g.86718073G>TCA377452337LDB3n.515-654G>T
c.1597G>T (p.Val533Phe)
c.1645G>T (p.Val549Phe)
c.1786G>T (p.Val596Phe)
c.1456G>T (p.Val486Phe)
c.1801G>T (p.Val601Phe)
c.2038G>T (p.Val680Phe)
c.1990G>T (p.Val664Phe)
c.1849G>T (p.Val617Phe)
c.1834G>T (p.Val612Phe)
c.1693G>T (p.Val565Phe)
c.1504G>T (p.Val502Phe)
c.1489G>T (p.Val497Phe)
c.994G>T (p.Val332Phe)
c.805G>T (p.Val269Phe)
10g.86718074T>ACA377452342LDB3n.515-653T>A
c.1598T>A (p.Val533Asp)
c.1646T>A (p.Val549Asp)
c.1787T>A (p.Val596Asp)
c.1457T>A (p.Val486Asp)
c.1802T>A (p.Val601Asp)
c.2039T>A (p.Val680Asp)
c.1991T>A (p.Val664Asp)
c.1850T>A (p.Val617Asp)
c.1835T>A (p.Val612Asp)
c.1694T>A (p.Val565Asp)
c.1505T>A (p.Val502Asp)
c.1490T>A (p.Val497Asp)
c.995T>A (p.Val332Asp)
c.806T>A (p.Val269Asp)
10g.86718074T>CCA377452345LDB3n.515-653T>C
c.1598T>C (p.Val533Ala)
c.1646T>C (p.Val549Ala)
c.1787T>C (p.Val596Ala)
c.1457T>C (p.Val486Ala)
c.1802T>C (p.Val601Ala)
c.2039T>C (p.Val680Ala)
c.1991T>C (p.Val664Ala)
c.1850T>C (p.Val617Ala)
c.1835T>C (p.Val612Ala)
c.1694T>C (p.Val565Ala)
c.1505T>C (p.Val502Ala)
c.1490T>C (p.Val497Ala)
c.995T>C (p.Val332Ala)
c.806T>C (p.Val269Ala)
 gnomAD v4
10g.86718074T>GCA377452339LDB3n.515-653T>G
c.1598T>G (p.Val533Gly)
c.1646T>G (p.Val549Gly)
c.1787T>G (p.Val596Gly)
c.1457T>G (p.Val486Gly)
c.1802T>G (p.Val601Gly)
c.2039T>G (p.Val680Gly)
c.1991T>G (p.Val664Gly)
c.1850T>G (p.Val617Gly)
c.1835T>G (p.Val612Gly)
c.1694T>G (p.Val565Gly)
c.1505T>G (p.Val502Gly)
c.1490T>G (p.Val497Gly)
c.995T>G (p.Val332Gly)
c.806T>G (p.Val269Gly)
10g.86718075T>ACA470308764LDB3n.515-652T>A
c.1599T>A (p.Val533=)
c.1647T>A (p.Val549=)
c.1788T>A (p.Val596=)
c.1458T>A (p.Val486=)
c.1803T>A (p.Val601=)
c.2040T>A (p.Val680=)
c.1992T>A (p.Val664=)
c.1851T>A (p.Val617=)
c.1836T>A (p.Val612=)
c.1695T>A (p.Val565=)
c.1506T>A (p.Val502=)
c.1491T>A (p.Val497=)
c.996T>A (p.Val332=)
c.807T>A (p.Val269=)
10g.86718075T>CCA470308766LDB3n.515-652T>C
c.1599T>C (p.Val533=)
c.1647T>C (p.Val549=)
c.1788T>C (p.Val596=)
c.1458T>C (p.Val486=)
c.1803T>C (p.Val601=)
c.2040T>C (p.Val680=)
c.1992T>C (p.Val664=)
c.1851T>C (p.Val617=)
c.1836T>C (p.Val612=)
c.1695T>C (p.Val565=)
c.1506T>C (p.Val502=)
c.1491T>C (p.Val497=)
c.996T>C (p.Val332=)
c.807T>C (p.Val269=)
 gnomAD v4
10g.86718075T>GCA470308768LDB3n.515-652T>G
c.1599T>G (p.Val533=)
c.1647T>G (p.Val549=)
c.1788T>G (p.Val596=)
c.1458T>G (p.Val486=)
c.1803T>G (p.Val601=)
c.2040T>G (p.Val680=)
c.1992T>G (p.Val664=)
c.1851T>G (p.Val617=)
c.1836T>G (p.Val612=)
c.1695T>G (p.Val565=)
c.1506T>G (p.Val502=)
c.1491T>G (p.Val497=)
c.996T>G (p.Val332=)
c.807T>G (p.Val269=)
 dbSNP
10g.86718075T=CA1925632517LDB3n.515-652T=
c.1599T= (p.Val533=)
c.1647T= (p.Val549=)
c.1788T= (p.Val596=)
c.1458T= (p.Val486=)
c.1803T= (p.Val601=)
c.2040T= (p.Val680=)
c.1992T= (p.Val664=)
c.1851T= (p.Val617=)
c.1836T= (p.Val612=)
c.1695T= (p.Val565=)
c.1506T= (p.Val502=)
c.1491T= (p.Val497=)
c.996T= (p.Val332=)
c.807T= (p.Val269=)
10g.86718076T>ACA5585231LDB3n.515-651T>A
c.1600T>A (p.Tyr534Asn)
c.1648T>A (p.Tyr550Asn)
c.1789T>A (p.Tyr597Asn)
c.1459T>A (p.Tyr487Asn)
c.1804T>A (p.Tyr602Asn)
c.2041T>A (p.Tyr681Asn)
c.1993T>A (p.Tyr665Asn)
c.1852T>A (p.Tyr618Asn)
c.1837T>A (p.Tyr613Asn)
c.1696T>A (p.Tyr566Asn)
c.1507T>A (p.Tyr503Asn)
c.1492T>A (p.Tyr498Asn)
c.997T>A (p.Tyr333Asn)
c.808T>A (p.Tyr270Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86718076T>CCA176561LDB3n.515-651T>C
c.1600T>C (p.Tyr534His)
c.1648T>C (p.Tyr550His)
c.1789T>C (p.Tyr597His)
c.1459T>C (p.Tyr487His)
c.1804T>C (p.Tyr602His)
c.2041T>C (p.Tyr681His)
c.1993T>C (p.Tyr665His)
c.1852T>C (p.Tyr618His)
c.1837T>C (p.Tyr613His)
c.1696T>C (p.Tyr566His)
c.1507T>C (p.Tyr503His)
c.1492T>C (p.Tyr498His)
c.997T>C (p.Tyr333His)
c.808T>C (p.Tyr270His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.86718076T>GCA377452354LDB3n.515-651T>G
c.1600T>G (p.Tyr534Asp)
c.1648T>G (p.Tyr550Asp)
c.1789T>G (p.Tyr597Asp)
c.1459T>G (p.Tyr487Asp)
c.1804T>G (p.Tyr602Asp)
c.2041T>G (p.Tyr681Asp)
c.1993T>G (p.Tyr665Asp)
c.1852T>G (p.Tyr618Asp)
c.1837T>G (p.Tyr613Asp)
c.1696T>G (p.Tyr566Asp)
c.1507T>G (p.Tyr503Asp)
c.1492T>G (p.Tyr498Asp)
c.997T>G (p.Tyr333Asp)
c.808T>G (p.Tyr270Asp)
 gnomAD v4
10g.86718076T=CA1925632518LDB3n.515-651T=
c.1600T= (p.Tyr534=)
c.1648T= (p.Tyr550=)
c.1789T= (p.Tyr597=)
c.1459T= (p.Tyr487=)
c.1804T= (p.Tyr602=)
c.2041T= (p.Tyr681=)
c.1993T= (p.Tyr665=)
c.1852T= (p.Tyr618=)
c.1837T= (p.Tyr613=)
c.1696T= (p.Tyr566=)
c.1507T= (p.Tyr503=)
c.1492T= (p.Tyr498=)
c.997T= (p.Tyr333=)
c.808T= (p.Tyr270=)
10g.86718077A>CCA377452356LDB3n.515-650A>C
c.1601A>C (p.Tyr534Ser)
c.1649A>C (p.Tyr550Ser)
c.1790A>C (p.Tyr597Ser)
c.1460A>C (p.Tyr487Ser)
c.1805A>C (p.Tyr602Ser)
c.2042A>C (p.Tyr681Ser)
c.1994A>C (p.Tyr665Ser)
c.1853A>C (p.Tyr618Ser)
c.1838A>C (p.Tyr613Ser)
c.1697A>C (p.Tyr566Ser)
c.1508A>C (p.Tyr503Ser)
c.1493A>C (p.Tyr498Ser)
c.998A>C (p.Tyr333Ser)
c.809A>C (p.Tyr270Ser)
10g.86718077A>GCA377452358LDB3n.515-650A>G
c.1601A>G (p.Tyr534Cys)
c.1649A>G (p.Tyr550Cys)
c.1790A>G (p.Tyr597Cys)
c.1460A>G (p.Tyr487Cys)
c.1805A>G (p.Tyr602Cys)
c.2042A>G (p.Tyr681Cys)
c.1994A>G (p.Tyr665Cys)
c.1853A>G (p.Tyr618Cys)
c.1838A>G (p.Tyr613Cys)
c.1697A>G (p.Tyr566Cys)
c.1508A>G (p.Tyr503Cys)
c.1493A>G (p.Tyr498Cys)
c.998A>G (p.Tyr333Cys)
c.809A>G (p.Tyr270Cys)
10g.86718077A>TCA377452361LDB3n.515-650A>T
c.1601A>T (p.Tyr534Phe)
c.1649A>T (p.Tyr550Phe)
c.1790A>T (p.Tyr597Phe)
c.1460A>T (p.Tyr487Phe)
c.1805A>T (p.Tyr602Phe)
c.2042A>T (p.Tyr681Phe)
c.1994A>T (p.Tyr665Phe)
c.1853A>T (p.Tyr618Phe)
c.1838A>T (p.Tyr613Phe)
c.1697A>T (p.Tyr566Phe)
c.1508A>T (p.Tyr503Phe)
c.1493A>T (p.Tyr498Phe)
c.998A>T (p.Tyr333Phe)
c.809A>T (p.Tyr270Phe)
10g.86718078C>ACA377452362LDB3n.515-649C>A
c.1602C>A (p.Tyr534Ter)
c.1650C>A (p.Tyr550Ter)
c.1791C>A (p.Tyr597Ter)
c.1461C>A (p.Tyr487Ter)
c.1806C>A (p.Tyr602Ter)
c.2043C>A (p.Tyr681Ter)
c.1995C>A (p.Tyr665Ter)
c.1854C>A (p.Tyr618Ter)
c.1839C>A (p.Tyr613Ter)
c.1698C>A (p.Tyr566Ter)
c.1509C>A (p.Tyr503Ter)
c.1494C>A (p.Tyr498Ter)
c.999C>A (p.Tyr333Ter)
c.810C>A (p.Tyr270Ter)
10g.86718078C>GCA377452363LDB3n.515-649C>G
c.1602C>G (p.Tyr534Ter)
c.1650C>G (p.Tyr550Ter)
c.1791C>G (p.Tyr597Ter)
c.1461C>G (p.Tyr487Ter)
c.1806C>G (p.Tyr602Ter)
c.2043C>G (p.Tyr681Ter)
c.1995C>G (p.Tyr665Ter)
c.1854C>G (p.Tyr618Ter)
c.1839C>G (p.Tyr613Ter)
c.1698C>G (p.Tyr566Ter)
c.1509C>G (p.Tyr503Ter)
c.1494C>G (p.Tyr498Ter)
c.999C>G (p.Tyr333Ter)
c.810C>G (p.Tyr270Ter)
10g.86718078C>TCA470308772LDB3n.515-649C>T
c.1602C>T (p.Tyr534=)
c.1650C>T (p.Tyr550=)
c.1791C>T (p.Tyr597=)
c.1461C>T (p.Tyr487=)
c.1806C>T (p.Tyr602=)
c.2043C>T (p.Tyr681=)
c.1995C>T (p.Tyr665=)
c.1854C>T (p.Tyr618=)
c.1839C>T (p.Tyr613=)
c.1698C>T (p.Tyr566=)
c.1509C>T (p.Tyr503=)
c.1494C>T (p.Tyr498=)
c.999C>T (p.Tyr333=)
c.810C>T (p.Tyr270=)
 ClinVar
10g.86718079T>ACA377452364LDB3n.515-648T>A
c.1603T>A (p.Cys535Ser)
c.1651T>A (p.Cys551Ser)
c.1792T>A (p.Cys598Ser)
c.1462T>A (p.Cys488Ser)
c.1807T>A (p.Cys603Ser)
c.2044T>A (p.Cys682Ser)
c.1996T>A (p.Cys666Ser)
c.1855T>A (p.Cys619Ser)
c.1840T>A (p.Cys614Ser)
c.1699T>A (p.Cys567Ser)
c.1510T>A (p.Cys504Ser)
c.1495T>A (p.Cys499Ser)
c.1000T>A (p.Cys334Ser)
c.811T>A (p.Cys271Ser)
10g.86718079T>CCA377452365LDB3n.515-648T>C
c.1603T>C (p.Cys535Arg)
c.1651T>C (p.Cys551Arg)
c.1792T>C (p.Cys598Arg)
c.1462T>C (p.Cys488Arg)
c.1807T>C (p.Cys603Arg)
c.2044T>C (p.Cys682Arg)
c.1996T>C (p.Cys666Arg)
c.1855T>C (p.Cys619Arg)
c.1840T>C (p.Cys614Arg)
c.1699T>C (p.Cys567Arg)
c.1510T>C (p.Cys504Arg)
c.1495T>C (p.Cys499Arg)
c.1000T>C (p.Cys334Arg)
c.811T>C (p.Cys271Arg)
 ClinVar dbSNP gnomAD v4
10g.86718079T>GCA377452366LDB3n.515-648T>G
c.1603T>G (p.Cys535Gly)
c.1651T>G (p.Cys551Gly)
c.1792T>G (p.Cys598Gly)
c.1462T>G (p.Cys488Gly)
c.1807T>G (p.Cys603Gly)
c.2044T>G (p.Cys682Gly)
c.1996T>G (p.Cys666Gly)
c.1855T>G (p.Cys619Gly)
c.1840T>G (p.Cys614Gly)
c.1699T>G (p.Cys567Gly)
c.1510T>G (p.Cys504Gly)
c.1495T>G (p.Cys499Gly)
c.1000T>G (p.Cys334Gly)
c.811T>G (p.Cys271Gly)
 dbSNP
10g.86718079T=CA1925632519LDB3n.515-648T=
c.1603T= (p.Cys535=)
c.1651T= (p.Cys551=)
c.1792T= (p.Cys598=)
c.1462T= (p.Cys488=)
c.1807T= (p.Cys603=)
c.2044T= (p.Cys682=)
c.1996T= (p.Cys666=)
c.1855T= (p.Cys619=)
c.1840T= (p.Cys614=)
c.1699T= (p.Cys567=)
c.1510T= (p.Cys504=)
c.1495T= (p.Cys499=)
c.1000T= (p.Cys334=)
c.811T= (p.Cys271=)
10g.86718080G>ACA377452367LDB3n.515-647G>A
c.1604G>A (p.Cys535Tyr)
c.1652G>A (p.Cys551Tyr)
c.1793G>A (p.Cys598Tyr)
c.1463G>A (p.Cys488Tyr)
c.1808G>A (p.Cys603Tyr)
c.2045G>A (p.Cys682Tyr)
c.1997G>A (p.Cys666Tyr)
c.1856G>A (p.Cys619Tyr)
c.1841G>A (p.Cys614Tyr)
c.1700G>A (p.Cys567Tyr)
c.1511G>A (p.Cys504Tyr)
c.1496G>A (p.Cys499Tyr)
c.1001G>A (p.Cys334Tyr)
c.812G>A (p.Cys271Tyr)
10g.86718080G>CCA377452368LDB3n.515-647G>C
c.1604G>C (p.Cys535Ser)
c.1652G>C (p.Cys551Ser)
c.1793G>C (p.Cys598Ser)
c.1463G>C (p.Cys488Ser)
c.1808G>C (p.Cys603Ser)
c.2045G>C (p.Cys682Ser)
c.1997G>C (p.Cys666Ser)
c.1856G>C (p.Cys619Ser)
c.1841G>C (p.Cys614Ser)
c.1700G>C (p.Cys567Ser)
c.1511G>C (p.Cys504Ser)
c.1496G>C (p.Cys499Ser)
c.1001G>C (p.Cys334Ser)
c.812G>C (p.Cys271Ser)
10g.86718080G>TCA377452369LDB3n.515-647G>T
c.1604G>T (p.Cys535Phe)
c.1652G>T (p.Cys551Phe)
c.1793G>T (p.Cys598Phe)
c.1463G>T (p.Cys488Phe)
c.1808G>T (p.Cys603Phe)
c.2045G>T (p.Cys682Phe)
c.1997G>T (p.Cys666Phe)
c.1856G>T (p.Cys619Phe)
c.1841G>T (p.Cys614Phe)
c.1700G>T (p.Cys567Phe)
c.1511G>T (p.Cys504Phe)
c.1496G>T (p.Cys499Phe)
c.1001G>T (p.Cys334Phe)
c.812G>T (p.Cys271Phe)
10g.86718081T>ACA377452372LDB3n.515-646T>A
c.1605T>A (p.Cys535Ter)
c.1653T>A (p.Cys551Ter)
c.1794T>A (p.Cys598Ter)
c.1464T>A (p.Cys488Ter)
c.1809T>A (p.Cys603Ter)
c.2046T>A (p.Cys682Ter)
c.1998T>A (p.Cys666Ter)
c.1857T>A (p.Cys619Ter)
c.1842T>A (p.Cys614Ter)
c.1701T>A (p.Cys567Ter)
c.1512T>A (p.Cys504Ter)
c.1497T>A (p.Cys499Ter)
c.1002T>A (p.Cys334Ter)
c.813T>A (p.Cys271Ter)
10g.86718081T>CCA470308778LDB3n.515-646T>C
c.1605T>C (p.Cys535=)
c.1653T>C (p.Cys551=)
c.1794T>C (p.Cys598=)
c.1464T>C (p.Cys488=)
c.1809T>C (p.Cys603=)
c.2046T>C (p.Cys682=)
c.1998T>C (p.Cys666=)
c.1857T>C (p.Cys619=)
c.1842T>C (p.Cys614=)
c.1701T>C (p.Cys567=)
c.1512T>C (p.Cys504=)
c.1497T>C (p.Cys499=)
c.1002T>C (p.Cys334=)
c.813T>C (p.Cys271=)
 ClinVar dbSNP gnomAD v4
10g.86718081T>GCA377452378LDB3n.515-646T>G
c.1605T>G (p.Cys535Trp)
c.1653T>G (p.Cys551Trp)
c.1794T>G (p.Cys598Trp)
c.1464T>G (p.Cys488Trp)
c.1809T>G (p.Cys603Trp)
c.2046T>G (p.Cys682Trp)
c.1998T>G (p.Cys666Trp)
c.1857T>G (p.Cys619Trp)
c.1842T>G (p.Cys614Trp)
c.1701T>G (p.Cys567Trp)
c.1512T>G (p.Cys504Trp)
c.1497T>G (p.Cys499Trp)
c.1002T>G (p.Cys334Trp)
c.813T>G (p.Cys271Trp)
10g.86718082G>ACA377452381LDB3n.515-645G>A
c.1606G>A (p.Glu536Lys)
c.1654G>A (p.Glu552Lys)
c.1795G>A (p.Glu599Lys)
c.1465G>A (p.Glu489Lys)
c.1810G>A (p.Glu604Lys)
c.2047G>A (p.Glu683Lys)
c.1999G>A (p.Glu667Lys)
c.1858G>A (p.Glu620Lys)
c.1843G>A (p.Glu615Lys)
c.1702G>A (p.Glu568Lys)
c.1513G>A (p.Glu505Lys)
c.1498G>A (p.Glu500Lys)
c.1003G>A (p.Glu335Lys)
c.814G>A (p.Glu272Lys)
 gnomAD v4
10g.86718082G>CCA377452395LDB3n.515-645G>C
c.1606G>C (p.Glu536Gln)
c.1654G>C (p.Glu552Gln)
c.1795G>C (p.Glu599Gln)
c.1465G>C (p.Glu489Gln)
c.1810G>C (p.Glu604Gln)
c.2047G>C (p.Glu683Gln)
c.1999G>C (p.Glu667Gln)
c.1858G>C (p.Glu620Gln)
c.1843G>C (p.Glu615Gln)
c.1702G>C (p.Glu568Gln)
c.1513G>C (p.Glu505Gln)
c.1498G>C (p.Glu500Gln)
c.1003G>C (p.Glu335Gln)
c.814G>C (p.Glu272Gln)
10g.86718082G>TCA377452399LDB3n.515-645G>T
c.1606G>T (p.Glu536Ter)
c.1654G>T (p.Glu552Ter)
c.1795G>T (p.Glu599Ter)
c.1465G>T (p.Glu489Ter)
c.1810G>T (p.Glu604Ter)
c.2047G>T (p.Glu683Ter)
c.1999G>T (p.Glu667Ter)
c.1858G>T (p.Glu620Ter)
c.1843G>T (p.Glu615Ter)
c.1702G>T (p.Glu568Ter)
c.1513G>T (p.Glu505Ter)
c.1498G>T (p.Glu500Ter)
c.1003G>T (p.Glu335Ter)
c.814G>T (p.Glu272Ter)
 gnomAD v4
10g.86718083A>CCA377452403LDB3n.515-644A>C
c.1607A>C (p.Glu536Ala)
c.1655A>C (p.Glu552Ala)
c.1796A>C (p.Glu599Ala)
c.1466A>C (p.Glu489Ala)
c.1811A>C (p.Glu604Ala)
c.2048A>C (p.Glu683Ala)
c.2000A>C (p.Glu667Ala)
c.1859A>C (p.Glu620Ala)
c.1844A>C (p.Glu615Ala)
c.1703A>C (p.Glu568Ala)
c.1514A>C (p.Glu505Ala)
c.1499A>C (p.Glu500Ala)
c.1004A>C (p.Glu335Ala)
c.815A>C (p.Glu272Ala)
10g.86718083A>GCA377452411LDB3n.515-644A>G
c.1607A>G (p.Glu536Gly)
c.1655A>G (p.Glu552Gly)
c.1796A>G (p.Glu599Gly)
c.1466A>G (p.Glu489Gly)
c.1811A>G (p.Glu604Gly)
c.2048A>G (p.Glu683Gly)
c.2000A>G (p.Glu667Gly)
c.1859A>G (p.Glu620Gly)
c.1844A>G (p.Glu615Gly)
c.1703A>G (p.Glu568Gly)
c.1514A>G (p.Glu505Gly)
c.1499A>G (p.Glu500Gly)
c.1004A>G (p.Glu335Gly)
c.815A>G (p.Glu272Gly)
10g.86718083A>TCA377452414LDB3n.515-644A>T
c.1607A>T (p.Glu536Val)
c.1655A>T (p.Glu552Val)
c.1796A>T (p.Glu599Val)
c.1466A>T (p.Glu489Val)
c.1811A>T (p.Glu604Val)
c.2048A>T (p.Glu683Val)
c.2000A>T (p.Glu667Val)
c.1859A>T (p.Glu620Val)
c.1844A>T (p.Glu615Val)
c.1703A>T (p.Glu568Val)
c.1514A>T (p.Glu505Val)
c.1499A>T (p.Glu500Val)
c.1004A>T (p.Glu335Val)
c.815A>T (p.Glu272Val)
10g.86718084G>ACA470308780LDB3n.515-643G>A
c.1608G>A (p.Glu536=)
c.1656G>A (p.Glu552=)
c.1797G>A (p.Glu599=)
c.1467G>A (p.Glu489=)
c.1812G>A (p.Glu604=)
c.2049G>A (p.Glu683=)
c.2001G>A (p.Glu667=)
c.1860G>A (p.Glu620=)
c.1845G>A (p.Glu615=)
c.1704G>A (p.Glu568=)
c.1515G>A (p.Glu505=)
c.1500G>A (p.Glu500=)
c.1005G>A (p.Glu335=)
c.816G>A (p.Glu272=)
10g.86718084G>CCA377452419LDB3n.515-643G>C
c.1608G>C (p.Glu536Asp)
c.1656G>C (p.Glu552Asp)
c.1797G>C (p.Glu599Asp)
c.1467G>C (p.Glu489Asp)
c.1812G>C (p.Glu604Asp)
c.2049G>C (p.Glu683Asp)
c.2001G>C (p.Glu667Asp)
c.1860G>C (p.Glu620Asp)
c.1845G>C (p.Glu615Asp)
c.1704G>C (p.Glu568Asp)
c.1515G>C (p.Glu505Asp)
c.1500G>C (p.Glu500Asp)
c.1005G>C (p.Glu335Asp)
c.816G>C (p.Glu272Asp)
10g.86718084G>TCA377452423LDB3n.515-643G>T
c.1608G>T (p.Glu536Asp)
c.1656G>T (p.Glu552Asp)
c.1797G>T (p.Glu599Asp)
c.1467G>T (p.Glu489Asp)
c.1812G>T (p.Glu604Asp)
c.2049G>T (p.Glu683Asp)
c.2001G>T (p.Glu667Asp)
c.1860G>T (p.Glu620Asp)
c.1845G>T (p.Glu615Asp)
c.1704G>T (p.Glu568Asp)
c.1515G>T (p.Glu505Asp)
c.1500G>T (p.Glu500Asp)
c.1005G>T (p.Glu335Asp)
c.816G>T (p.Glu272Asp)
10g.86718085C>ACA470308782LDB3n.515-642C>A
c.1609C>A (p.Arg537=)
c.1657C>A (p.Arg553=)
c.1798C>A (p.Arg600=)
c.1468C>A (p.Arg490=)
c.1813C>A (p.Arg605=)
c.2050C>A (p.Arg684=)
c.2002C>A (p.Arg668=)
c.1861C>A (p.Arg621=)
c.1846C>A (p.Arg616=)
c.1705C>A (p.Arg569=)
c.1516C>A (p.Arg506=)
c.1501C>A (p.Arg501=)
c.1006C>A (p.Arg336=)
c.817C>A (p.Arg273=)
 gnomAD v4
10g.86718085C=CA1925632520LDB3n.515-642C=
c.1609C= (p.Arg537=)
c.1657C= (p.Arg553=)
c.1798C= (p.Arg600=)
c.1468C= (p.Arg490=)
c.1813C= (p.Arg605=)
c.2050C= (p.Arg684=)
c.2002C= (p.Arg668=)
c.1861C= (p.Arg621=)
c.1846C= (p.Arg616=)
c.1705C= (p.Arg569=)
c.1516C= (p.Arg506=)
c.1501C= (p.Arg501=)
c.1006C= (p.Arg336=)
c.817C= (p.Arg273=)
10g.86718085C>GCA377452427LDB3n.515-642C>G
c.1609C>G (p.Arg537Gly)
c.1657C>G (p.Arg553Gly)
c.1798C>G (p.Arg600Gly)
c.1468C>G (p.Arg490Gly)
c.1813C>G (p.Arg605Gly)
c.2050C>G (p.Arg684Gly)
c.2002C>G (p.Arg668Gly)
c.1861C>G (p.Arg621Gly)
c.1846C>G (p.Arg616Gly)
c.1705C>G (p.Arg569Gly)
c.1516C>G (p.Arg506Gly)
c.1501C>G (p.Arg501Gly)
c.1006C>G (p.Arg336Gly)
c.817C>G (p.Arg273Gly)
10g.86718085C>TCA176564LDB3n.515-642C>T
c.1609C>T (p.Arg537Ter)
c.1657C>T (p.Arg553Ter)
c.1798C>T (p.Arg600Ter)
c.1468C>T (p.Arg490Ter)
c.1813C>T (p.Arg605Ter)
c.2050C>T (p.Arg684Ter)
c.2002C>T (p.Arg668Ter)
c.1861C>T (p.Arg621Ter)
c.1846C>T (p.Arg616Ter)
c.1705C>T (p.Arg569Ter)
c.1516C>T (p.Arg506Ter)
c.1501C>T (p.Arg501Ter)
c.1006C>T (p.Arg336Ter)
c.817C>T (p.Arg273Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86718086delCA2722430319LDB3n.515-641del
c.1610del (p.Arg537HisfsTer22)
c.1658del (p.Arg553HisfsTer22)
c.1799del (p.Arg600HisfsTer22)
c.1469del (p.Arg490HisfsTer22)
c.1814del (p.Arg605HisfsTer22)
c.2051del (p.Arg684HisfsTer22)
c.2003del (p.Arg668HisfsTer22)
c.1862del (p.Arg621HisfsTer22)
c.1847del (p.Arg616HisfsTer22)
c.1706del (p.Arg569HisfsTer22)
c.1517del (p.Arg506HisfsTer22)
c.1502del (p.Arg501HisfsTer22)
c.1007del (p.Arg336HisfsTer22)
c.818del (p.Arg273HisfsTer22)
 dbSNP
10g.86718086G>ACA308648LDB3n.515-641G>A
c.1610G>A (p.Arg537Gln)
c.1658G>A (p.Arg553Gln)
c.1799G>A (p.Arg600Gln)
c.1469G>A (p.Arg490Gln)
c.1814G>A (p.Arg605Gln)
c.2051G>A (p.Arg684Gln)
c.2003G>A (p.Arg668Gln)
c.1862G>A (p.Arg621Gln)
c.1847G>A (p.Arg616Gln)
c.1706G>A (p.Arg569Gln)
c.1517G>A (p.Arg506Gln)
c.1502G>A (p.Arg501Gln)
c.1007G>A (p.Arg336Gln)
c.818G>A (p.Arg273Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.86718086G>CCA235802LDB3n.515-641G>C
c.1610G>C (p.Arg537Pro)
c.1658G>C (p.Arg553Pro)
c.1799G>C (p.Arg600Pro)
c.1469G>C (p.Arg490Pro)
c.1814G>C (p.Arg605Pro)
c.2051G>C (p.Arg684Pro)
c.2003G>C (p.Arg668Pro)
c.1862G>C (p.Arg621Pro)
c.1847G>C (p.Arg616Pro)
c.1706G>C (p.Arg569Pro)
c.1517G>C (p.Arg506Pro)
c.1502G>C (p.Arg501Pro)
c.1007G>C (p.Arg336Pro)
c.818G>C (p.Arg273Pro)
 ClinVar dbSNP
10g.86718086G=CA1925632521LDB3n.515-641G=
c.1610G= (p.Arg537=)
c.1658G= (p.Arg553=)
c.1799G= (p.Arg600=)
c.1469G= (p.Arg490=)
c.1814G= (p.Arg605=)
c.2051G= (p.Arg684=)
c.2003G= (p.Arg668=)
c.1862G= (p.Arg621=)
c.1847G= (p.Arg616=)
c.1706G= (p.Arg569=)
c.1517G= (p.Arg506=)
c.1502G= (p.Arg501=)
c.1007G= (p.Arg336=)
c.818G= (p.Arg273=)
10g.86718086G>TCA377452440LDB3n.515-641G>T
c.1610G>T (p.Arg537Leu)
c.1658G>T (p.Arg553Leu)
c.1799G>T (p.Arg600Leu)
c.1469G>T (p.Arg490Leu)
c.1814G>T (p.Arg605Leu)
c.2051G>T (p.Arg684Leu)
c.2003G>T (p.Arg668Leu)
c.1862G>T (p.Arg621Leu)
c.1847G>T (p.Arg616Leu)
c.1706G>T (p.Arg569Leu)
c.1517G>T (p.Arg506Leu)
c.1502G>T (p.Arg501Leu)
c.1007G>T (p.Arg336Leu)
c.818G>T (p.Arg273Leu)
10g.86718087A>CCA470308784LDB3n.515-640A>C
c.1611A>C (p.Arg537=)
c.1659A>C (p.Arg553=)
c.1800A>C (p.Arg600=)
c.1470A>C (p.Arg490=)
c.1815A>C (p.Arg605=)
c.2052A>C (p.Arg684=)
c.2004A>C (p.Arg668=)
c.1863A>C (p.Arg621=)
c.1848A>C (p.Arg616=)
c.1707A>C (p.Arg569=)
c.1518A>C (p.Arg506=)
c.1503A>C (p.Arg501=)
c.1008A>C (p.Arg336=)
c.819A>C (p.Arg273=)
10g.86718087A>GCA470308785LDB3n.515-640A>G
c.1611A>G (p.Arg537=)
c.1659A>G (p.Arg553=)
c.1800A>G (p.Arg600=)
c.1470A>G (p.Arg490=)
c.1815A>G (p.Arg605=)
c.2052A>G (p.Arg684=)
c.2004A>G (p.Arg668=)
c.1863A>G (p.Arg621=)
c.1848A>G (p.Arg616=)
c.1707A>G (p.Arg569=)
c.1518A>G (p.Arg506=)
c.1503A>G (p.Arg501=)
c.1008A>G (p.Arg336=)
c.819A>G (p.Arg273=)
10g.86718087A>TCA470308786LDB3n.515-640A>T
c.1611A>T (p.Arg537=)
c.1659A>T (p.Arg553=)
c.1800A>T (p.Arg600=)
c.1470A>T (p.Arg490=)
c.1815A>T (p.Arg605=)
c.2052A>T (p.Arg684=)
c.2004A>T (p.Arg668=)
c.1863A>T (p.Arg621=)
c.1848A>T (p.Arg616=)
c.1707A>T (p.Arg569=)
c.1518A>T (p.Arg506=)
c.1503A>T (p.Arg501=)
c.1008A>T (p.Arg336=)
c.819A>T (p.Arg273=)
10g.86718088T>ACA377452442LDB3n.515-639T>A
c.1612T>A (p.Cys538Ser)
c.1660T>A (p.Cys554Ser)
c.1801T>A (p.Cys601Ser)
c.1471T>A (p.Cys491Ser)
c.1816T>A (p.Cys606Ser)
c.2053T>A (p.Cys685Ser)
c.2005T>A (p.Cys669Ser)
c.1864T>A (p.Cys622Ser)
c.1849T>A (p.Cys617Ser)
c.1708T>A (p.Cys570Ser)
c.1519T>A (p.Cys507Ser)
c.1504T>A (p.Cys502Ser)
c.1009T>A (p.Cys337Ser)
c.820T>A (p.Cys274Ser)
 dbSNP gnomAD v4
10g.86718088T>CCA377452447LDB3n.515-639T>C
c.1612T>C (p.Cys538Arg)
c.1660T>C (p.Cys554Arg)
c.1801T>C (p.Cys601Arg)
c.1471T>C (p.Cys491Arg)
c.1816T>C (p.Cys606Arg)
c.2053T>C (p.Cys685Arg)
c.2005T>C (p.Cys669Arg)
c.1864T>C (p.Cys622Arg)
c.1849T>C (p.Cys617Arg)
c.1708T>C (p.Cys570Arg)
c.1519T>C (p.Cys507Arg)
c.1504T>C (p.Cys502Arg)
c.1009T>C (p.Cys337Arg)
c.820T>C (p.Cys274Arg)
 dbSNP gnomAD v2 gnomAD v4
10g.86718088T>GCA377452445LDB3n.515-639T>G
c.1612T>G (p.Cys538Gly)
c.1660T>G (p.Cys554Gly)
c.1801T>G (p.Cys601Gly)
c.1471T>G (p.Cys491Gly)
c.1816T>G (p.Cys606Gly)
c.2053T>G (p.Cys685Gly)
c.2005T>G (p.Cys669Gly)
c.1864T>G (p.Cys622Gly)
c.1849T>G (p.Cys617Gly)
c.1708T>G (p.Cys570Gly)
c.1519T>G (p.Cys507Gly)
c.1504T>G (p.Cys502Gly)
c.1009T>G (p.Cys337Gly)
c.820T>G (p.Cys274Gly)
10g.86718088T=CA1925632522LDB3n.515-639T=
c.1612T= (p.Cys538=)
c.1660T= (p.Cys554=)
c.1801T= (p.Cys601=)
c.1471T= (p.Cys491=)
c.1816T= (p.Cys606=)
c.2053T= (p.Cys685=)
c.2005T= (p.Cys669=)
c.1864T= (p.Cys622=)
c.1849T= (p.Cys617=)
c.1708T= (p.Cys570=)
c.1519T= (p.Cys507=)
c.1504T= (p.Cys502=)
c.1009T= (p.Cys337=)
c.820T= (p.Cys274=)
10g.86718088_86718096delCA2722430330LDB3n.515-639_515-631del
c.1612_1620del (p.Cys538_Glu540del)
c.1660_1668del (p.Cys554_Glu556del)
c.1801_1809del (p.Cys601_Glu603del)
c.1471_1479del (p.Cys491_Glu493del)
c.1816_1824del (p.Cys606_Glu608del)
c.2053_2061del (p.Cys685_Glu687del)
c.2005_2013del (p.Cys669_Glu671del)
c.1864_1872del (p.Cys622_Glu624del)
c.1849_1857del (p.Cys617_Glu619del)
c.1708_1716del (p.Cys570_Glu572del)
c.1519_1527del (p.Cys507_Glu509del)
c.1504_1512del (p.Cys502_Glu504del)
c.1009_1017del (p.Cys337_Glu339del)
c.820_828del (p.Cys274_Glu276del)
 dbSNP
10g.86718089G>ACA377452449LDB3n.515-638G>A
c.1613G>A (p.Cys538Tyr)
c.1661G>A (p.Cys554Tyr)
c.1802G>A (p.Cys601Tyr)
c.1472G>A (p.Cys491Tyr)
c.1817G>A (p.Cys606Tyr)
c.2054G>A (p.Cys685Tyr)
c.2006G>A (p.Cys669Tyr)
c.1865G>A (p.Cys622Tyr)
c.1850G>A (p.Cys617Tyr)
c.1709G>A (p.Cys570Tyr)
c.1520G>A (p.Cys507Tyr)
c.1505G>A (p.Cys502Tyr)
c.1010G>A (p.Cys337Tyr)
c.821G>A (p.Cys274Tyr)
 dbSNP gnomAD v4
10g.86718089G>CCA377452453LDB3n.515-638G>C
c.1613G>C (p.Cys538Ser)
c.1661G>C (p.Cys554Ser)
c.1802G>C (p.Cys601Ser)
c.1472G>C (p.Cys491Ser)
c.1817G>C (p.Cys606Ser)
c.2054G>C (p.Cys685Ser)
c.2006G>C (p.Cys669Ser)
c.1865G>C (p.Cys622Ser)
c.1850G>C (p.Cys617Ser)
c.1709G>C (p.Cys570Ser)
c.1520G>C (p.Cys507Ser)
c.1505G>C (p.Cys502Ser)
c.1010G>C (p.Cys337Ser)
c.821G>C (p.Cys274Ser)
10g.86718089G=CA1925632523LDB3n.515-638G=
c.1613G= (p.Cys538=)
c.1661G= (p.Cys554=)
c.1802G= (p.Cys601=)
c.1472G= (p.Cys491=)
c.1817G= (p.Cys606=)
c.2054G= (p.Cys685=)
c.2006G= (p.Cys669=)
c.1865G= (p.Cys622=)
c.1850G= (p.Cys617=)
c.1709G= (p.Cys570=)
c.1520G= (p.Cys507=)
c.1505G= (p.Cys502=)
c.1010G= (p.Cys337=)
c.821G= (p.Cys274=)
10g.86718089G>TCA377452451LDB3n.515-638G>T
c.1613G>T (p.Cys538Phe)
c.1661G>T (p.Cys554Phe)
c.1802G>T (p.Cys601Phe)
c.1472G>T (p.Cys491Phe)
c.1817G>T (p.Cys606Phe)
c.2054G>T (p.Cys685Phe)
c.2006G>T (p.Cys669Phe)
c.1865G>T (p.Cys622Phe)
c.1850G>T (p.Cys617Phe)
c.1709G>T (p.Cys570Phe)
c.1520G>T (p.Cys507Phe)
c.1505G>T (p.Cys502Phe)
c.1010G>T (p.Cys337Phe)
c.821G>T (p.Cys274Phe)
10g.86718090T>ACA377452455LDB3n.515-637T>A
c.1614T>A (p.Cys538Ter)
c.1662T>A (p.Cys554Ter)
c.1803T>A (p.Cys601Ter)
c.1473T>A (p.Cys491Ter)
c.1818T>A (p.Cys606Ter)
c.2055T>A (p.Cys685Ter)
c.2007T>A (p.Cys669Ter)
c.1866T>A (p.Cys622Ter)
c.1851T>A (p.Cys617Ter)
c.1710T>A (p.Cys570Ter)
c.1521T>A (p.Cys507Ter)
c.1506T>A (p.Cys502Ter)
c.1011T>A (p.Cys337Ter)
c.822T>A (p.Cys274Ter)
10g.86718090T>CCA470308789LDB3n.515-637T>C
c.1614T>C (p.Cys538=)
c.1662T>C (p.Cys554=)
c.1803T>C (p.Cys601=)
c.1473T>C (p.Cys491=)
c.1818T>C (p.Cys606=)
c.2055T>C (p.Cys685=)
c.2007T>C (p.Cys669=)
c.1866T>C (p.Cys622=)
c.1851T>C (p.Cys617=)
c.1710T>C (p.Cys570=)
c.1521T>C (p.Cys507=)
c.1506T>C (p.Cys502=)
c.1011T>C (p.Cys337=)
c.822T>C (p.Cys274=)
10g.86718090T>GCA377452456LDB3n.515-637T>G
c.1614T>G (p.Cys538Trp)
c.1662T>G (p.Cys554Trp)
c.1803T>G (p.Cys601Trp)
c.1473T>G (p.Cys491Trp)
c.1818T>G (p.Cys606Trp)
c.2055T>G (p.Cys685Trp)
c.2007T>G (p.Cys669Trp)
c.1866T>G (p.Cys622Trp)
c.1851T>G (p.Cys617Trp)
c.1710T>G (p.Cys570Trp)
c.1521T>G (p.Cys507Trp)
c.1506T>G (p.Cys502Trp)
c.1011T>G (p.Cys337Trp)
c.822T>G (p.Cys274Trp)
10g.86718091T>ACA377452465LDB3n.515-636T>A
c.1615T>A (p.Tyr539Asn)
c.1663T>A (p.Tyr555Asn)
c.1804T>A (p.Tyr602Asn)
c.1474T>A (p.Tyr492Asn)
c.1819T>A (p.Tyr607Asn)
c.2056T>A (p.Tyr686Asn)
c.2008T>A (p.Tyr670Asn)
c.1867T>A (p.Tyr623Asn)
c.1852T>A (p.Tyr618Asn)
c.1711T>A (p.Tyr571Asn)
c.1522T>A (p.Tyr508Asn)
c.1507T>A (p.Tyr503Asn)
c.1012T>A (p.Tyr338Asn)
c.823T>A (p.Tyr275Asn)
10g.86718091T>CCA377452466LDB3n.515-636T>C
c.1615T>C (p.Tyr539His)
c.1663T>C (p.Tyr555His)
c.1804T>C (p.Tyr602His)
c.1474T>C (p.Tyr492His)
c.1819T>C (p.Tyr607His)
c.2056T>C (p.Tyr686His)
c.2008T>C (p.Tyr670His)
c.1867T>C (p.Tyr623His)
c.1852T>C (p.Tyr618His)
c.1711T>C (p.Tyr571His)
c.1522T>C (p.Tyr508His)
c.1507T>C (p.Tyr503His)
c.1012T>C (p.Tyr338His)
c.823T>C (p.Tyr275His)
 dbSNP gnomAD v4
10g.86718091T>GCA377452467LDB3n.515-636T>G
c.1615T>G (p.Tyr539Asp)
c.1663T>G (p.Tyr555Asp)
c.1804T>G (p.Tyr602Asp)
c.1474T>G (p.Tyr492Asp)
c.1819T>G (p.Tyr607Asp)
c.2056T>G (p.Tyr686Asp)
c.2008T>G (p.Tyr670Asp)
c.1867T>G (p.Tyr623Asp)
c.1852T>G (p.Tyr618Asp)
c.1711T>G (p.Tyr571Asp)
c.1522T>G (p.Tyr508Asp)
c.1507T>G (p.Tyr503Asp)
c.1012T>G (p.Tyr338Asp)
c.823T>G (p.Tyr275Asp)
10g.86718091T=CA1925632524LDB3n.515-636T=
c.1615T= (p.Tyr539=)
c.1663T= (p.Tyr555=)
c.1804T= (p.Tyr602=)
c.1474T= (p.Tyr492=)
c.1819T= (p.Tyr607=)
c.2056T= (p.Tyr686=)
c.2008T= (p.Tyr670=)
c.1867T= (p.Tyr623=)
c.1852T= (p.Tyr618=)
c.1711T= (p.Tyr571=)
c.1522T= (p.Tyr508=)
c.1507T= (p.Tyr503=)
c.1012T= (p.Tyr338=)
c.823T= (p.Tyr275=)
10g.86718092A=CA1925632525LDB3n.515-635A=
c.1616A= (p.Tyr539=)
c.1664A= (p.Tyr555=)
c.1805A= (p.Tyr602=)
c.1475A= (p.Tyr492=)
c.1820A= (p.Tyr607=)
c.2057A= (p.Tyr686=)
c.2009A= (p.Tyr670=)
c.1868A= (p.Tyr623=)
c.1853A= (p.Tyr618=)
c.1712A= (p.Tyr571=)
c.1523A= (p.Tyr508=)
c.1508A= (p.Tyr503=)
c.1013A= (p.Tyr338=)
c.824A= (p.Tyr275=)
10g.86718092A>CCA377452469LDB3n.515-635A>C
c.1616A>C (p.Tyr539Ser)
c.1664A>C (p.Tyr555Ser)
c.1805A>C (p.Tyr602Ser)
c.1475A>C (p.Tyr492Ser)
c.1820A>C (p.Tyr607Ser)
c.2057A>C (p.Tyr686Ser)
c.2009A>C (p.Tyr670Ser)
c.1868A>C (p.Tyr623Ser)
c.1853A>C (p.Tyr618Ser)
c.1712A>C (p.Tyr571Ser)
c.1523A>C (p.Tyr508Ser)
c.1508A>C (p.Tyr503Ser)
c.1013A>C (p.Tyr338Ser)
c.824A>C (p.Tyr275Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
10g.86718092A>GCA377452471LDB3n.515-635A>G
c.1616A>G (p.Tyr539Cys)
c.1664A>G (p.Tyr555Cys)
c.1805A>G (p.Tyr602Cys)
c.1475A>G (p.Tyr492Cys)
c.1820A>G (p.Tyr607Cys)
c.2057A>G (p.Tyr686Cys)
c.2009A>G (p.Tyr670Cys)
c.1868A>G (p.Tyr623Cys)
c.1853A>G (p.Tyr618Cys)
c.1712A>G (p.Tyr571Cys)
c.1523A>G (p.Tyr508Cys)
c.1508A>G (p.Tyr503Cys)
c.1013A>G (p.Tyr338Cys)
c.824A>G (p.Tyr275Cys)
10g.86718092A>TCA377452475LDB3n.515-635A>T
c.1616A>T (p.Tyr539Phe)
c.1664A>T (p.Tyr555Phe)
c.1805A>T (p.Tyr602Phe)
c.1475A>T (p.Tyr492Phe)
c.1820A>T (p.Tyr607Phe)
c.2057A>T (p.Tyr686Phe)
c.2009A>T (p.Tyr670Phe)
c.1868A>T (p.Tyr623Phe)
c.1853A>T (p.Tyr618Phe)
c.1712A>T (p.Tyr571Phe)
c.1523A>T (p.Tyr508Phe)
c.1508A>T (p.Tyr503Phe)
c.1013A>T (p.Tyr338Phe)
c.824A>T (p.Tyr275Phe)
 gnomAD v4
10g.86718093T>ACA377452482LDB3n.515-634T>A
c.1617T>A (p.Tyr539Ter)
c.1665T>A (p.Tyr555Ter)
c.1806T>A (p.Tyr602Ter)
c.1476T>A (p.Tyr492Ter)
c.1821T>A (p.Tyr607Ter)
c.2058T>A (p.Tyr686Ter)
c.2010T>A (p.Tyr670Ter)
c.1869T>A (p.Tyr623Ter)
c.1854T>A (p.Tyr618Ter)
c.1713T>A (p.Tyr571Ter)
c.1524T>A (p.Tyr508Ter)
c.1509T>A (p.Tyr503Ter)
c.1014T>A (p.Tyr338Ter)
c.825T>A (p.Tyr275Ter)
 ClinVar dbSNP
10g.86718093T>CCA470308791LDB3n.515-634T>C
c.1617T>C (p.Tyr539=)
c.1665T>C (p.Tyr555=)
c.1806T>C (p.Tyr602=)
c.1476T>C (p.Tyr492=)
c.1821T>C (p.Tyr607=)
c.2058T>C (p.Tyr686=)
c.2010T>C (p.Tyr670=)
c.1869T>C (p.Tyr623=)
c.1854T>C (p.Tyr618=)
c.1713T>C (p.Tyr571=)
c.1524T>C (p.Tyr508=)
c.1509T>C (p.Tyr503=)
c.1014T>C (p.Tyr338=)
c.825T>C (p.Tyr275=)
10g.86718093T>GCA377452502LDB3n.515-634T>G
c.1617T>G (p.Tyr539Ter)
c.1665T>G (p.Tyr555Ter)
c.1806T>G (p.Tyr602Ter)
c.1476T>G (p.Tyr492Ter)
c.1821T>G (p.Tyr607Ter)
c.2058T>G (p.Tyr686Ter)
c.2010T>G (p.Tyr670Ter)
c.1869T>G (p.Tyr623Ter)
c.1854T>G (p.Tyr618Ter)
c.1713T>G (p.Tyr571Ter)
c.1524T>G (p.Tyr508Ter)
c.1509T>G (p.Tyr503Ter)
c.1014T>G (p.Tyr338Ter)
c.825T>G (p.Tyr275Ter)
10g.86718094G>ACA377452508LDB3n.515-633G>A
c.1618G>A (p.Glu540Lys)
c.1666G>A (p.Glu556Lys)
c.1807G>A (p.Glu603Lys)
c.1477G>A (p.Glu493Lys)
c.1822G>A (p.Glu608Lys)
c.2059G>A (p.Glu687Lys)
c.2011G>A (p.Glu671Lys)
c.1870G>A (p.Glu624Lys)
c.1855G>A (p.Glu619Lys)
c.1714G>A (p.Glu572Lys)
c.1525G>A (p.Glu509Lys)
c.1510G>A (p.Glu504Lys)
c.1015G>A (p.Glu339Lys)
c.826G>A (p.Glu276Lys)
10g.86718094G>CCA377452513LDB3n.515-633G>C
c.1618G>C (p.Glu540Gln)
c.1666G>C (p.Glu556Gln)
c.1807G>C (p.Glu603Gln)
c.1477G>C (p.Glu493Gln)
c.1822G>C (p.Glu608Gln)
c.2059G>C (p.Glu687Gln)
c.2011G>C (p.Glu671Gln)
c.1870G>C (p.Glu624Gln)
c.1855G>C (p.Glu619Gln)
c.1714G>C (p.Glu572Gln)
c.1525G>C (p.Glu509Gln)
c.1510G>C (p.Glu504Gln)
c.1015G>C (p.Glu339Gln)
c.826G>C (p.Glu276Gln)
10g.86718094G>TCA377452515LDB3n.515-633G>T
c.1618G>T (p.Glu540Ter)
c.1666G>T (p.Glu556Ter)
c.1807G>T (p.Glu603Ter)
c.1477G>T (p.Glu493Ter)
c.1822G>T (p.Glu608Ter)
c.2059G>T (p.Glu687Ter)
c.2011G>T (p.Glu671Ter)
c.1870G>T (p.Glu624Ter)
c.1855G>T (p.Glu619Ter)
c.1714G>T (p.Glu572Ter)
c.1525G>T (p.Glu509Ter)
c.1510G>T (p.Glu504Ter)
c.1015G>T (p.Glu339Ter)
c.826G>T (p.Glu276Ter)
10g.86718095A>CCA377452518LDB3n.515-632A>C
c.1619A>C (p.Glu540Ala)
c.1667A>C (p.Glu556Ala)
c.1808A>C (p.Glu603Ala)
c.1478A>C (p.Glu493Ala)
c.1823A>C (p.Glu608Ala)
c.2060A>C (p.Glu687Ala)
c.2012A>C (p.Glu671Ala)
c.1871A>C (p.Glu624Ala)
c.1856A>C (p.Glu619Ala)
c.1715A>C (p.Glu572Ala)
c.1526A>C (p.Glu509Ala)
c.1511A>C (p.Glu504Ala)
c.1016A>C (p.Glu339Ala)
c.827A>C (p.Glu276Ala)
10g.86718095A>GCA377452524LDB3n.515-632A>G
c.1619A>G (p.Glu540Gly)
c.1667A>G (p.Glu556Gly)
c.1808A>G (p.Glu603Gly)
c.1478A>G (p.Glu493Gly)
c.1823A>G (p.Glu608Gly)
c.2060A>G (p.Glu687Gly)
c.2012A>G (p.Glu671Gly)
c.1871A>G (p.Glu624Gly)
c.1856A>G (p.Glu619Gly)
c.1715A>G (p.Glu572Gly)
c.1526A>G (p.Glu509Gly)
c.1511A>G (p.Glu504Gly)
c.1016A>G (p.Glu339Gly)
c.827A>G (p.Glu276Gly)
10g.86718095A>TCA377452522LDB3n.515-632A>T
c.1619A>T (p.Glu540Val)
c.1667A>T (p.Glu556Val)
c.1808A>T (p.Glu603Val)
c.1478A>T (p.Glu493Val)
c.1823A>T (p.Glu608Val)
c.2060A>T (p.Glu687Val)
c.2012A>T (p.Glu671Val)
c.1871A>T (p.Glu624Val)
c.1856A>T (p.Glu619Val)
c.1715A>T (p.Glu572Val)
c.1526A>T (p.Glu509Val)
c.1511A>T (p.Glu504Val)
c.1016A>T (p.Glu339Val)
c.827A>T (p.Glu276Val)
10g.86718096G>ACA470308792LDB3n.515-631G>A
c.1620G>A (p.Glu540=)
c.1668G>A (p.Glu556=)
c.1809G>A (p.Glu603=)
c.1479G>A (p.Glu493=)
c.1824G>A (p.Glu608=)
c.2061G>A (p.Glu687=)
c.2013G>A (p.Glu671=)
c.1872G>A (p.Glu624=)
c.1857G>A (p.Glu619=)
c.1716G>A (p.Glu572=)
c.1527G>A (p.Glu509=)
c.1512G>A (p.Glu504=)
c.1017G>A (p.Glu339=)
c.828G>A (p.Glu276=)
 dbSNP gnomAD v3 gnomAD v4
10g.86718096G>CCA377452525LDB3n.515-631G>C
c.1620G>C (p.Glu540Asp)
c.1668G>C (p.Glu556Asp)
c.1809G>C (p.Glu603Asp)
c.1479G>C (p.Glu493Asp)
c.1824G>C (p.Glu608Asp)
c.2061G>C (p.Glu687Asp)
c.2013G>C (p.Glu671Asp)
c.1872G>C (p.Glu624Asp)
c.1857G>C (p.Glu619Asp)
c.1716G>C (p.Glu572Asp)
c.1527G>C (p.Glu509Asp)
c.1512G>C (p.Glu504Asp)
c.1017G>C (p.Glu339Asp)
c.828G>C (p.Glu276Asp)
10g.86718096G=CA1925632526LDB3n.515-631G=
c.1620G= (p.Glu540=)
c.1668G= (p.Glu556=)
c.1809G= (p.Glu603=)
c.1479G= (p.Glu493=)
c.1824G= (p.Glu608=)
c.2061G= (p.Glu687=)
c.2013G= (p.Glu671=)
c.1872G= (p.Glu624=)
c.1857G= (p.Glu619=)
c.1716G= (p.Glu572=)
c.1527G= (p.Glu509=)
c.1512G= (p.Glu504=)
c.1017G= (p.Glu339=)
c.828G= (p.Glu276=)
10g.86718096G>TCA377452526LDB3n.515-631G>T
c.1620G>T (p.Glu540Asp)
c.1668G>T (p.Glu556Asp)
c.1809G>T (p.Glu603Asp)
c.1479G>T (p.Glu493Asp)
c.1824G>T (p.Glu608Asp)
c.2061G>T (p.Glu687Asp)
c.2013G>T (p.Glu671Asp)
c.1872G>T (p.Glu624Asp)
c.1857G>T (p.Glu619Asp)
c.1716G>T (p.Glu572Asp)
c.1527G>T (p.Glu509Asp)
c.1512G>T (p.Glu504Asp)
c.1017G>T (p.Glu339Asp)
c.828G>T (p.Glu276Asp)
10g.86718097C>ACA377452527LDB3n.515-630C>A
c.1621C>A (p.Gln541Lys)
c.1669C>A (p.Gln557Lys)
c.1810C>A (p.Gln604Lys)
c.1480C>A (p.Gln494Lys)
c.1825C>A (p.Gln609Lys)
c.2062C>A (p.Gln688Lys)
c.2014C>A (p.Gln672Lys)
c.1873C>A (p.Gln625Lys)
c.1858C>A (p.Gln620Lys)
c.1717C>A (p.Gln573Lys)
c.1528C>A (p.Gln510Lys)
c.1513C>A (p.Gln505Lys)
c.1018C>A (p.Gln340Lys)
c.829C>A (p.Gln277Lys)
10g.86718097C>GCA377452528LDB3n.515-630C>G
c.1621C>G (p.Gln541Glu)
c.1669C>G (p.Gln557Glu)
c.1810C>G (p.Gln604Glu)
c.1480C>G (p.Gln494Glu)
c.1825C>G (p.Gln609Glu)
c.2062C>G (p.Gln688Glu)
c.2014C>G (p.Gln672Glu)
c.1873C>G (p.Gln625Glu)
c.1858C>G (p.Gln620Glu)
c.1717C>G (p.Gln573Glu)
c.1528C>G (p.Gln510Glu)
c.1513C>G (p.Gln505Glu)
c.1018C>G (p.Gln340Glu)
c.829C>G (p.Gln277Glu)
10g.86718097C>TCA377452529LDB3n.515-630C>T
c.1621C>T (p.Gln541Ter)
c.1669C>T (p.Gln557Ter)
c.1810C>T (p.Gln604Ter)
c.1480C>T (p.Gln494Ter)
c.1825C>T (p.Gln609Ter)
c.2062C>T (p.Gln688Ter)
c.2014C>T (p.Gln672Ter)
c.1873C>T (p.Gln625Ter)
c.1858C>T (p.Gln620Ter)
c.1717C>T (p.Gln573Ter)
c.1528C>T (p.Gln510Ter)
c.1513C>T (p.Gln505Ter)
c.1018C>T (p.Gln340Ter)
c.829C>T (p.Gln277Ter)
10g.86718098A>CCA377452533LDB3n.515-629A>C
c.1622A>C (p.Gln541Pro)
c.1670A>C (p.Gln557Pro)
c.1811A>C (p.Gln604Pro)
c.1481A>C (p.Gln494Pro)
c.1826A>C (p.Gln609Pro)
c.2063A>C (p.Gln688Pro)
c.2015A>C (p.Gln672Pro)
c.1874A>C (p.Gln625Pro)
c.1859A>C (p.Gln620Pro)
c.1718A>C (p.Gln573Pro)
c.1529A>C (p.Gln510Pro)
c.1514A>C (p.Gln505Pro)
c.1019A>C (p.Gln340Pro)
c.830A>C (p.Gln277Pro)
10g.86718098A>GCA377452534LDB3n.515-629A>G
c.1622A>G (p.Gln541Arg)
c.1670A>G (p.Gln557Arg)
c.1811A>G (p.Gln604Arg)
c.1481A>G (p.Gln494Arg)
c.1826A>G (p.Gln609Arg)
c.2063A>G (p.Gln688Arg)
c.2015A>G (p.Gln672Arg)
c.1874A>G (p.Gln625Arg)
c.1859A>G (p.Gln620Arg)
c.1718A>G (p.Gln573Arg)
c.1529A>G (p.Gln510Arg)
c.1514A>G (p.Gln505Arg)
c.1019A>G (p.Gln340Arg)
c.830A>G (p.Gln277Arg)
10g.86718098A>TCA377452535LDB3n.515-629A>T
c.1622A>T (p.Gln541Leu)
c.1670A>T (p.Gln557Leu)
c.1811A>T (p.Gln604Leu)
c.1481A>T (p.Gln494Leu)
c.1826A>T (p.Gln609Leu)
c.2063A>T (p.Gln688Leu)
c.2015A>T (p.Gln672Leu)
c.1874A>T (p.Gln625Leu)
c.1859A>T (p.Gln620Leu)
c.1718A>T (p.Gln573Leu)
c.1529A>T (p.Gln510Leu)
c.1514A>T (p.Gln505Leu)
c.1019A>T (p.Gln340Leu)
c.830A>T (p.Gln277Leu)
10g.86718098_86718103delCA2722430471LDB3n.515-629_515-624del
c.1622_1627del (p.Gln541_Phe543delinsLeu)
c.1670_1675del (p.Gln557_Phe559delinsLeu)
c.1811_1816del (p.Gln604_Phe606delinsLeu)
c.1481_1486del (p.Gln494_Phe496delinsLeu)
c.1826_1831del (p.Gln609_Phe611delinsLeu)
c.2063_2068del (p.Gln688_Phe690delinsLeu)
c.2015_2020del (p.Gln672_Phe674delinsLeu)
c.1874_1879del (p.Gln625_Phe627delinsLeu)
c.1859_1864del (p.Gln620_Phe622delinsLeu)
c.1718_1723del (p.Gln573_Phe575delinsLeu)
c.1529_1534del (p.Gln510_Phe512delinsLeu)
c.1514_1519del (p.Gln505_Phe507delinsLeu)
c.1019_1024del (p.Gln340_Phe342delinsLeu)
c.830_835del (p.Gln277_Phe279delinsLeu)
 dbSNP
10g.86718099A=CA1925632527LDB3n.515-628A=
c.1623A= (p.Gln541=)
c.1671A= (p.Gln557=)
c.1812A= (p.Gln604=)
c.1482A= (p.Gln494=)
c.1827A= (p.Gln609=)
c.2064A= (p.Gln688=)
c.2016A= (p.Gln672=)
c.1875A= (p.Gln625=)
c.1860A= (p.Gln620=)
c.1719A= (p.Gln573=)
c.1530A= (p.Gln510=)
c.1515A= (p.Gln505=)
c.1020A= (p.Gln340=)
c.831A= (p.Gln277=)
10g.86718099A>CCA377452536LDB3n.515-628A>C
c.1623A>C (p.Gln541His)
c.1671A>C (p.Gln557His)
c.1812A>C (p.Gln604His)
c.1482A>C (p.Gln494His)
c.1827A>C (p.Gln609His)
c.2064A>C (p.Gln688His)
c.2016A>C (p.Gln672His)
c.1875A>C (p.Gln625His)
c.1860A>C (p.Gln620His)
c.1719A>C (p.Gln573His)
c.1530A>C (p.Gln510His)
c.1515A>C (p.Gln505His)
c.1020A>C (p.Gln340His)
c.831A>C (p.Gln277His)
10g.86718099A>GCA470308793LDB3n.515-628A>G
c.1623A>G (p.Gln541=)
c.1671A>G (p.Gln557=)
c.1812A>G (p.Gln604=)
c.1482A>G (p.Gln494=)
c.1827A>G (p.Gln609=)
c.2064A>G (p.Gln688=)
c.2016A>G (p.Gln672=)
c.1875A>G (p.Gln625=)
c.1860A>G (p.Gln620=)
c.1719A>G (p.Gln573=)
c.1530A>G (p.Gln510=)
c.1515A>G (p.Gln505=)
c.1020A>G (p.Gln340=)
c.831A>G (p.Gln277=)
 ClinVar dbSNP gnomAD v4
10g.86718099A>TCA377452538LDB3n.515-628A>T
c.1623A>T (p.Gln541His)
c.1671A>T (p.Gln557His)
c.1812A>T (p.Gln604His)
c.1482A>T (p.Gln494His)
c.1827A>T (p.Gln609His)
c.2064A>T (p.Gln688His)
c.2016A>T (p.Gln672His)
c.1875A>T (p.Gln625His)
c.1860A>T (p.Gln620His)
c.1719A>T (p.Gln573His)
c.1530A>T (p.Gln510His)
c.1515A>T (p.Gln505His)
c.1020A>T (p.Gln340His)
c.831A>T (p.Gln277His)
10g.86718100T>ACA377452550LDB3n.515-627T>A
c.1624T>A (p.Phe542Ile)
c.1672T>A (p.Phe558Ile)
c.1813T>A (p.Phe605Ile)
c.1483T>A (p.Phe495Ile)
c.1828T>A (p.Phe610Ile)
c.2065T>A (p.Phe689Ile)
c.2017T>A (p.Phe673Ile)
c.1876T>A (p.Phe626Ile)
c.1861T>A (p.Phe621Ile)
c.1720T>A (p.Phe574Ile)
c.1531T>A (p.Phe511Ile)
c.1516T>A (p.Phe506Ile)
c.1021T>A (p.Phe341Ile)
c.832T>A (p.Phe278Ile)
10g.86718100T>CCA377452545LDB3n.515-627T>C
c.1624T>C (p.Phe542Leu)
c.1672T>C (p.Phe558Leu)
c.1813T>C (p.Phe605Leu)
c.1483T>C (p.Phe495Leu)
c.1828T>C (p.Phe610Leu)
c.2065T>C (p.Phe689Leu)
c.2017T>C (p.Phe673Leu)
c.1876T>C (p.Phe626Leu)
c.1861T>C (p.Phe621Leu)
c.1720T>C (p.Phe574Leu)
c.1531T>C (p.Phe511Leu)
c.1516T>C (p.Phe506Leu)
c.1021T>C (p.Phe341Leu)
c.832T>C (p.Phe278Leu)
10g.86718100T>GCA377452541LDB3n.515-627T>G
c.1624T>G (p.Phe542Val)
c.1672T>G (p.Phe558Val)
c.1813T>G (p.Phe605Val)
c.1483T>G (p.Phe495Val)
c.1828T>G (p.Phe610Val)
c.2065T>G (p.Phe689Val)
c.2017T>G (p.Phe673Val)
c.1876T>G (p.Phe626Val)
c.1861T>G (p.Phe621Val)
c.1720T>G (p.Phe574Val)
c.1531T>G (p.Phe511Val)
c.1516T>G (p.Phe506Val)
c.1021T>G (p.Phe341Val)
c.832T>G (p.Phe278Val)
10g.86718101delCA2788863815LDB3n.515-626del
c.1625del (p.Phe542SerfsTer17)
c.1673del (p.Phe558SerfsTer17)
c.1814del (p.Phe605SerfsTer17)
c.1484del (p.Phe495SerfsTer17)
c.1829del (p.Phe610SerfsTer17)
c.2066del (p.Phe689SerfsTer17)
c.2018del (p.Phe673SerfsTer17)
c.1877del (p.Phe626SerfsTer17)
c.1862del (p.Phe621SerfsTer17)
c.1721del (p.Phe574SerfsTer17)
c.1532del (p.Phe511SerfsTer17)
c.1517del (p.Phe506SerfsTer17)
c.1022del (p.Phe341SerfsTer17)
c.833del (p.Phe278SerfsTer17)
10g.86718101T>ACA377452564LDB3n.515-626T>A
c.1625T>A (p.Phe542Tyr)
c.1673T>A (p.Phe558Tyr)
c.1814T>A (p.Phe605Tyr)
c.1484T>A (p.Phe495Tyr)
c.1829T>A (p.Phe610Tyr)
c.2066T>A (p.Phe689Tyr)
c.2018T>A (p.Phe673Tyr)
c.1877T>A (p.Phe626Tyr)
c.1862T>A (p.Phe621Tyr)
c.1721T>A (p.Phe574Tyr)
c.1532T>A (p.Phe511Tyr)
c.1517T>A (p.Phe506Tyr)
c.1022T>A (p.Phe341Tyr)
c.833T>A (p.Phe278Tyr)
10g.86718101T>CCA377452554LDB3n.515-626T>C
c.1625T>C (p.Phe542Ser)
c.1673T>C (p.Phe558Ser)
c.1814T>C (p.Phe605Ser)
c.1484T>C (p.Phe495Ser)
c.1829T>C (p.Phe610Ser)
c.2066T>C (p.Phe689Ser)
c.2018T>C (p.Phe673Ser)
c.1877T>C (p.Phe626Ser)
c.1862T>C (p.Phe621Ser)
c.1721T>C (p.Phe574Ser)
c.1532T>C (p.Phe511Ser)
c.1517T>C (p.Phe506Ser)
c.1022T>C (p.Phe341Ser)
c.833T>C (p.Phe278Ser)
10g.86718101T>GCA377452561LDB3n.515-626T>G
c.1625T>G (p.Phe542Cys)
c.1673T>G (p.Phe558Cys)
c.1814T>G (p.Phe605Cys)
c.1484T>G (p.Phe495Cys)
c.1829T>G (p.Phe610Cys)
c.2066T>G (p.Phe689Cys)
c.2018T>G (p.Phe673Cys)
c.1877T>G (p.Phe626Cys)
c.1862T>G (p.Phe621Cys)
c.1721T>G (p.Phe574Cys)
c.1532T>G (p.Phe511Cys)
c.1517T>G (p.Phe506Cys)
c.1022T>G (p.Phe341Cys)
c.833T>G (p.Phe278Cys)
10g.86718102C>ACA377452566LDB3n.515-625C>A
c.1626C>A (p.Phe542Leu)
c.1674C>A (p.Phe558Leu)
c.1815C>A (p.Phe605Leu)
c.1485C>A (p.Phe495Leu)
c.1830C>A (p.Phe610Leu)
c.2067C>A (p.Phe689Leu)
c.2019C>A (p.Phe673Leu)
c.1878C>A (p.Phe626Leu)
c.1863C>A (p.Phe621Leu)
c.1722C>A (p.Phe574Leu)
c.1533C>A (p.Phe511Leu)
c.1518C>A (p.Phe506Leu)
c.1023C>A (p.Phe341Leu)
c.834C>A (p.Phe278Leu)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
10g.86718102C=CA1925632528LDB3n.515-625C=
c.1626C= (p.Phe542=)
c.1674C= (p.Phe558=)
c.1815C= (p.Phe605=)
c.1485C= (p.Phe495=)
c.1830C= (p.Phe610=)
c.2067C= (p.Phe689=)
c.2019C= (p.Phe673=)
c.1878C= (p.Phe626=)
c.1863C= (p.Phe621=)
c.1722C= (p.Phe574=)
c.1533C= (p.Phe511=)
c.1518C= (p.Phe506=)
c.1023C= (p.Phe341=)
c.834C= (p.Phe278=)
10g.86718102C>GCA377452571LDB3n.515-625C>G
c.1626C>G (p.Phe542Leu)
c.1674C>G (p.Phe558Leu)
c.1815C>G (p.Phe605Leu)
c.1485C>G (p.Phe495Leu)
c.1830C>G (p.Phe610Leu)
c.2067C>G (p.Phe689Leu)
c.2019C>G (p.Phe673Leu)
c.1878C>G (p.Phe626Leu)
c.1863C>G (p.Phe621Leu)
c.1722C>G (p.Phe574Leu)
c.1533C>G (p.Phe511Leu)
c.1518C>G (p.Phe506Leu)
c.1023C>G (p.Phe341Leu)
c.834C>G (p.Phe278Leu)
 gnomAD v4
10g.86718102C>TCA16605955LDB3n.515-625C>T
c.1626C>T (p.Phe542=)
c.1674C>T (p.Phe558=)
c.1815C>T (p.Phe605=)
c.1485C>T (p.Phe495=)
c.1830C>T (p.Phe610=)
c.2067C>T (p.Phe689=)
c.2019C>T (p.Phe673=)
c.1878C>T (p.Phe626=)
c.1863C>T (p.Phe621=)
c.1722C>T (p.Phe574=)
c.1533C>T (p.Phe511=)
c.1518C>T (p.Phe506=)
c.1023C>T (p.Phe341=)
c.834C>T (p.Phe278=)
 ClinVar dbSNP
10g.86718103T>ACA377452578LDB3n.515-624T>A
c.1627T>A (p.Phe543Ile)
c.1675T>A (p.Phe559Ile)
c.1816T>A (p.Phe606Ile)
c.1486T>A (p.Phe496Ile)
c.1831T>A (p.Phe611Ile)
c.2068T>A (p.Phe690Ile)
c.2020T>A (p.Phe674Ile)
c.1879T>A (p.Phe627Ile)
c.1864T>A (p.Phe622Ile)
c.1723T>A (p.Phe575Ile)
c.1534T>A (p.Phe512Ile)
c.1519T>A (p.Phe507Ile)
c.1024T>A (p.Phe342Ile)
c.835T>A (p.Phe279Ile)
10g.86718103T>CCA377452580LDB3n.515-624T>C
c.1627T>C (p.Phe543Leu)
c.1675T>C (p.Phe559Leu)
c.1816T>C (p.Phe606Leu)
c.1486T>C (p.Phe496Leu)
c.1831T>C (p.Phe611Leu)
c.2068T>C (p.Phe690Leu)
c.2020T>C (p.Phe674Leu)
c.1879T>C (p.Phe627Leu)
c.1864T>C (p.Phe622Leu)
c.1723T>C (p.Phe575Leu)
c.1534T>C (p.Phe512Leu)
c.1519T>C (p.Phe507Leu)
c.1024T>C (p.Phe342Leu)
c.835T>C (p.Phe279Leu)
10g.86718103T>GCA377452583LDB3n.515-624T>G
c.1627T>G (p.Phe543Val)
c.1675T>G (p.Phe559Val)
c.1816T>G (p.Phe606Val)
c.1486T>G (p.Phe496Val)
c.1831T>G (p.Phe611Val)
c.2068T>G (p.Phe690Val)
c.2020T>G (p.Phe674Val)
c.1879T>G (p.Phe627Val)
c.1864T>G (p.Phe622Val)
c.1723T>G (p.Phe575Val)
c.1534T>G (p.Phe512Val)
c.1519T>G (p.Phe507Val)
c.1024T>G (p.Phe342Val)
c.835T>G (p.Phe279Val)

Number of alleles fetched