Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.86717999A>C | CA377451909 | LDB3 | n.515-728A>C c.1523A>C (p.His508Pro) c.1571A>C (p.His524Pro) c.1712A>C (p.His571Pro) c.1382A>C (p.His461Pro) c.1727A>C (p.His576Pro) c.1964A>C (p.His655Pro) c.1916A>C (p.His639Pro) c.1775A>C (p.His592Pro) c.1760A>C (p.His587Pro) c.1619A>C (p.His540Pro) c.1430A>C (p.His477Pro) c.1415A>C (p.His472Pro) c.920A>C (p.His307Pro) c.731A>C (p.His244Pro) | |
10 | g.86717999A>G | CA377451911 | LDB3 | n.515-728A>G c.1523A>G (p.His508Arg) c.1571A>G (p.His524Arg) c.1712A>G (p.His571Arg) c.1382A>G (p.His461Arg) c.1727A>G (p.His576Arg) c.1964A>G (p.His655Arg) c.1916A>G (p.His639Arg) c.1775A>G (p.His592Arg) c.1760A>G (p.His587Arg) c.1619A>G (p.His540Arg) c.1430A>G (p.His477Arg) c.1415A>G (p.His472Arg) c.920A>G (p.His307Arg) c.731A>G (p.His244Arg) | |
10 | g.86717999A>T | CA377451913 | LDB3 | n.515-728A>T c.1523A>T (p.His508Leu) c.1571A>T (p.His524Leu) c.1712A>T (p.His571Leu) c.1382A>T (p.His461Leu) c.1727A>T (p.His576Leu) c.1964A>T (p.His655Leu) c.1916A>T (p.His639Leu) c.1775A>T (p.His592Leu) c.1760A>T (p.His587Leu) c.1619A>T (p.His540Leu) c.1430A>T (p.His477Leu) c.1415A>T (p.His472Leu) c.920A>T (p.His307Leu) c.731A>T (p.His244Leu) | |
10 | g.86718000C>A | CA377451915 | LDB3 | n.515-727C>A c.1524C>A (p.His508Gln) c.1572C>A (p.His524Gln) c.1713C>A (p.His571Gln) c.1383C>A (p.His461Gln) c.1728C>A (p.His576Gln) c.1965C>A (p.His655Gln) c.1917C>A (p.His639Gln) c.1776C>A (p.His592Gln) c.1761C>A (p.His587Gln) c.1620C>A (p.His540Gln) c.1431C>A (p.His477Gln) c.1416C>A (p.His472Gln) c.921C>A (p.His307Gln) c.732C>A (p.His244Gln) | gnomAD v4 |
10 | g.86718000C>G | CA377451916 | LDB3 | n.515-727C>G c.1524C>G (p.His508Gln) c.1572C>G (p.His524Gln) c.1713C>G (p.His571Gln) c.1383C>G (p.His461Gln) c.1728C>G (p.His576Gln) c.1965C>G (p.His655Gln) c.1917C>G (p.His639Gln) c.1776C>G (p.His592Gln) c.1761C>G (p.His587Gln) c.1620C>G (p.His540Gln) c.1431C>G (p.His477Gln) c.1416C>G (p.His472Gln) c.921C>G (p.His307Gln) c.732C>G (p.His244Gln) | |
10 | g.86718000C>T | CA470308650 | LDB3 | n.515-727C>T c.1524C>T (p.His508=) c.1572C>T (p.His524=) c.1713C>T (p.His571=) c.1383C>T (p.His461=) c.1728C>T (p.His576=) c.1965C>T (p.His655=) c.1917C>T (p.His639=) c.1776C>T (p.His592=) c.1761C>T (p.His587=) c.1620C>T (p.His540=) c.1431C>T (p.His477=) c.1416C>T (p.His472=) c.921C>T (p.His307=) c.732C>T (p.His244=) | |
10 | g.86718001C>A | CA5585221 | LDB3 | n.515-726C>A c.1525C>A (p.Pro509Thr) c.1573C>A (p.Pro525Thr) c.1714C>A (p.Pro572Thr) c.1384C>A (p.Pro462Thr) c.1729C>A (p.Pro577Thr) c.1966C>A (p.Pro656Thr) c.1918C>A (p.Pro640Thr) c.1777C>A (p.Pro593Thr) c.1762C>A (p.Pro588Thr) c.1621C>A (p.Pro541Thr) c.1432C>A (p.Pro478Thr) c.1417C>A (p.Pro473Thr) c.922C>A (p.Pro308Thr) c.733C>A (p.Pro245Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.86718001C= | CA1925632480 | LDB3 | n.515-726C= c.1525C= (p.Pro509=) c.1573C= (p.Pro525=) c.1714C= (p.Pro572=) c.1384C= (p.Pro462=) c.1729C= (p.Pro577=) c.1966C= (p.Pro656=) c.1918C= (p.Pro640=) c.1777C= (p.Pro593=) c.1762C= (p.Pro588=) c.1621C= (p.Pro541=) c.1432C= (p.Pro478=) c.1417C= (p.Pro473=) c.922C= (p.Pro308=) c.733C= (p.Pro245=) | |
10 | g.86718001C>G | CA377451920 | LDB3 | n.515-726C>G c.1525C>G (p.Pro509Ala) c.1573C>G (p.Pro525Ala) c.1714C>G (p.Pro572Ala) c.1384C>G (p.Pro462Ala) c.1729C>G (p.Pro577Ala) c.1966C>G (p.Pro656Ala) c.1918C>G (p.Pro640Ala) c.1777C>G (p.Pro593Ala) c.1762C>G (p.Pro588Ala) c.1621C>G (p.Pro541Ala) c.1432C>G (p.Pro478Ala) c.1417C>G (p.Pro473Ala) c.922C>G (p.Pro308Ala) c.733C>G (p.Pro245Ala) | |
10 | g.86718001C>T | CA377451918 | LDB3 | n.515-726C>T c.1525C>T (p.Pro509Ser) c.1573C>T (p.Pro525Ser) c.1714C>T (p.Pro572Ser) c.1384C>T (p.Pro462Ser) c.1729C>T (p.Pro577Ser) c.1966C>T (p.Pro656Ser) c.1918C>T (p.Pro640Ser) c.1777C>T (p.Pro593Ser) c.1762C>T (p.Pro588Ser) c.1621C>T (p.Pro541Ser) c.1432C>T (p.Pro478Ser) c.1417C>T (p.Pro473Ser) c.922C>T (p.Pro308Ser) c.733C>T (p.Pro245Ser) | ClinVar gnomAD v4 |
10 | g.86718002C>A | CA377451922 | LDB3 | n.515-725C>A c.1526C>A (p.Pro509His) c.1574C>A (p.Pro525His) c.1715C>A (p.Pro572His) c.1385C>A (p.Pro462His) c.1730C>A (p.Pro577His) c.1967C>A (p.Pro656His) c.1919C>A (p.Pro640His) c.1778C>A (p.Pro593His) c.1763C>A (p.Pro588His) c.1622C>A (p.Pro541His) c.1433C>A (p.Pro478His) c.1418C>A (p.Pro473His) c.923C>A (p.Pro308His) c.734C>A (p.Pro245His) | |
10 | g.86718002C>G | CA377451923 | LDB3 | n.515-725C>G c.1526C>G (p.Pro509Arg) c.1574C>G (p.Pro525Arg) c.1715C>G (p.Pro572Arg) c.1385C>G (p.Pro462Arg) c.1730C>G (p.Pro577Arg) c.1967C>G (p.Pro656Arg) c.1919C>G (p.Pro640Arg) c.1778C>G (p.Pro593Arg) c.1763C>G (p.Pro588Arg) c.1622C>G (p.Pro541Arg) c.1433C>G (p.Pro478Arg) c.1418C>G (p.Pro473Arg) c.923C>G (p.Pro308Arg) c.734C>G (p.Pro245Arg) | |
10 | g.86718002C>T | CA377451924 | LDB3 | n.515-725C>T c.1526C>T (p.Pro509Leu) c.1574C>T (p.Pro525Leu) c.1715C>T (p.Pro572Leu) c.1385C>T (p.Pro462Leu) c.1730C>T (p.Pro577Leu) c.1967C>T (p.Pro656Leu) c.1919C>T (p.Pro640Leu) c.1778C>T (p.Pro593Leu) c.1763C>T (p.Pro588Leu) c.1622C>T (p.Pro541Leu) c.1433C>T (p.Pro478Leu) c.1418C>T (p.Pro473Leu) c.923C>T (p.Pro308Leu) c.734C>T (p.Pro245Leu) | |
10 | g.86718003T>A | CA470308655 | LDB3 | n.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 |
10 | g.86718003T>C | CA470308657 | LDB3 | n.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=) | |
10 | g.86718003T>G | CA470308654 | LDB3 | n.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=) | |
10 | g.86718004G>A | CA377451926 | LDB3 | n.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) | |
10 | g.86718004G>C | CA377451928 | LDB3 | n.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) | |
10 | g.86718004G>T | CA377451929 | LDB3 | n.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) | |
10 | g.86718005A>C | CA377451931 | LDB3 | n.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) | |
10 | g.86718005A>G | CA377451934 | LDB3 | n.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) | |
10 | g.86718005A>T | CA377451932 | LDB3 | n.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) | |
10 | g.86718006A= | CA1925632481 | LDB3 | n.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=) | |
10 | g.86718006A>C | CA377451936 | LDB3 | n.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) | |
10 | g.86718006A>G | CA470308659 | LDB3 | n.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 |
10 | g.86718006A>T | CA377451938 | LDB3 | n.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) | |
10 | g.86718006_86718007insCCAGCTCAGAACCAATCTTCCAAGCCTTGGATGCAAGGCCTCCGGTAACACCATCGATGATAGCCCATGCAATCTCCTTACCGACTTGGCGGAATCGCGCC | CA2788863800 | LDB3 | n.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) | |
10 | g.86718007G>A | CA211209149 | LDB3 | n.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 |
10 | g.86718007G>C | CA377451940 | LDB3 | n.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) | |
10 | g.86718007G= | CA1925632482 | LDB3 | n.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=) | |
10 | g.86718007G>T | CA377451942 | LDB3 | n.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 |
10 | g.86718008A>C | CA377451943 | LDB3 | n.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) | |
10 | g.86718008A>G | CA377451944 | LDB3 | n.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) | |
10 | g.86718008A>T | CA377451946 | LDB3 | n.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) | |
10 | g.86718009G>A | CA470308663 | LDB3 | n.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 |
10 | g.86718009G>C | CA377451948 | LDB3 | n.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 |
10 | g.86718009G= | CA1925632483 | LDB3 | n.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=) | |
10 | g.86718009G>T | CA377451950 | LDB3 | n.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) | |
10 | g.86718010T>A | CA377451954 | LDB3 | n.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 |
10 | g.86718010T>C | CA377451952 | LDB3 | n.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) | |
10 | g.86718010T>G | CA377451951 | LDB3 | n.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) | |
10 | g.86718010T= | CA1925632484 | LDB3 | n.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=) | |
10 | g.86718011T>A | CA377451956 | LDB3 | n.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) | |
10 | g.86718011T>C | CA377451958 | LDB3 | n.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) | |
10 | g.86718011T>G | CA377451959 | LDB3 | n.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) | |
10 | g.86718012C>A | CA377451961 | LDB3 | n.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) | |
10 | g.86718012C= | CA1925632485 | LDB3 | n.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=) | |
10 | g.86718012C>G | CA377451963 | LDB3 | n.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) | |
10 | g.86718012C>T | CA5585222 | LDB3 | n.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 |
10 | g.86718013A>C | CA377451965 | LDB3 | n.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) | |
10 | g.86718013A>G | CA377451967 | LDB3 | n.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 |
10 | g.86718013A>T | CA377451969 | LDB3 | n.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) | |
10 | g.86718014C>A | CA377451970 | LDB3 | n.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) | |
10 | g.86718014C>G | CA377451971 | LDB3 | n.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) | |
10 | g.86718014C>T | CA377451973 | LDB3 | n.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 |
10 | g.86718015C>A | CA470308669 | LDB3 | n.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=) | |
10 | g.86718015C= | CA1925632486 | LDB3 | n.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=) | |
10 | g.86718015C>G | CA470308670 | LDB3 | n.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=) | |
10 | g.86718015C>T | CA5585223 | LDB3 | n.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 |
10 | g.86718016T>A | CA377451979 | LDB3 | n.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) | |
10 | g.86718016T>C | CA377451977 | LDB3 | n.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) | |
10 | g.86718016T>G | CA377451976 | LDB3 | n.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 |
10 | g.86718017G>A | CA377451980 | LDB3 | n.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 |
10 | g.86718017G>C | CA377451982 | LDB3 | n.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) | |
10 | g.86718017G>T | CA377451984 | LDB3 | n.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) | |
10 | g.86718018T>A | CA377451985 | LDB3 | n.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) | |
10 | g.86718018T>C | CA470308674 | LDB3 | n.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 |
10 | g.86718018T>G | CA377451986 | LDB3 | n.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) | |
10 | g.86718018T= | CA1925632487 | LDB3 | n.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=) | |
10 | g.86718019G>A | CA377451987 | LDB3 | n.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 |
10 | g.86718019G>C | CA377451989 | LDB3 | n.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) | |
10 | g.86718019G>T | CA377451990 | LDB3 | n.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 |
10 | g.86718020C>A | CA377451992 | LDB3 | n.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) | |
10 | g.86718020C>G | CA377451994 | LDB3 | n.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) | |
10 | g.86718020C>T | CA377451995 | LDB3 | n.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) | |
10 | g.86718021C>A | CA470308677 | LDB3 | n.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=) | |
10 | g.86718021C= | CA1925632488 | LDB3 | n.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=) | |
10 | g.86718021C>G | CA470308678 | LDB3 | n.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=) | |
10 | g.86718021C>T | CA470308680 | LDB3 | n.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 |
10 | g.86718022T>A | CA377451997 | LDB3 | n.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) | |
10 | g.86718022T>C | CA377451998 | LDB3 | n.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) | |
10 | g.86718022T>G | CA377452000 | LDB3 | n.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) | |
10 | g.86718022dup | CA2609998136 | LDB3 | n.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 |
10 | g.86718023A= | CA1925632489 | LDB3 | n.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=) | |
10 | g.86718023A>C | CA377452003 | LDB3 | n.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) | |
10 | g.86718023A>G | CA237305 | LDB3 | n.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 |
10 | g.86718023A>T | CA377452002 | LDB3 | n.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) | |
10 | g.86718024C>A | CA377452005 | LDB3 | n.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) | |
10 | g.86718024C>G | CA377452007 | LDB3 | n.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) | |
10 | g.86718024C>T | CA470308684 | LDB3 | n.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=) | |
10 | g.86718025T>A | CA377452009 | LDB3 | n.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 |
10 | g.86718025T>C | CA377452010 | LDB3 | n.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) | |
10 | g.86718025T>G | CA377452011 | LDB3 | n.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 |
10 | g.86718026G>A | CA377452013 | LDB3 | n.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) | |
10 | g.86718026G>C | CA377452014 | LDB3 | n.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 |
10 | g.86718026G>T | CA377452015 | LDB3 | n.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) | |
10 | g.86718027C>A | CA5585224 | LDB3 | n.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 |
10 | g.86718027C= | CA1925632490 | LDB3 | n.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=) | |
10 | g.86718027C>G | CA377452018 | LDB3 | n.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) | |
10 | g.86718027C>T | CA470308690 | LDB3 | n.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=) | |
10 | g.86718028A= | CA1925632491 | LDB3 | n.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=) | |
10 | g.86718028A>C | CA5585225 | LDB3 | n.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 |
10 | g.86718028A>G | CA377452020 | LDB3 | n.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) | |
10 | g.86718028A>T | CA377452021 | LDB3 | n.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) | |
10 | g.86718029A= | CA1925632492 | LDB3 | n.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=) | |
10 | g.86718029A>C | CA377452027 | LDB3 | n.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) | |
10 | g.86718029A>G | CA377452023 | LDB3 | n.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 |
10 | g.86718029A>T | CA377452025 | LDB3 | n.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) | |
10 | g.86718030G>A | CA470308694 | LDB3 | n.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=) | |
10 | g.86718030G>C | CA377452028 | LDB3 | n.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) | |
10 | g.86718030G>T | CA377452030 | LDB3 | n.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) | |
10 | g.86718031A>C | CA377452032 | LDB3 | n.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) | |
10 | g.86718031A>G | CA377452034 | LDB3 | n.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 |
10 | g.86718031A>T | CA377452035 | LDB3 | n.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) | |
10 | g.86718032C>A | CA377452036 | LDB3 | n.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 |
10 | g.86718032C= | CA1925632493 | LDB3 | n.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=) | |
10 | g.86718032C>G | CA5585226 | LDB3 | n.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 |
10 | g.86718032C>T | CA377452039 | LDB3 | n.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 |
10 | g.86718033T>A | CA470308698 | LDB3 | n.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 |
10 | g.86718033T>C | CA470308700 | LDB3 | n.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=) | |
10 | g.86718033T>G | CA470308702 | LDB3 | n.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=) | |
10 | g.86718033T= | CA1925632494 | LDB3 | n.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=) | |
10 | g.86718034T>A | CA377452040 | LDB3 | n.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) | |
10 | g.86718034T>C | CA377452042 | LDB3 | n.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) | |
10 | g.86718034T>G | CA377452043 | LDB3 | n.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) | |
10 | g.86718035C>A | CA377452049 | LDB3 | n.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) | |
10 | g.86718035C= | CA1925632495 | LDB3 | n.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=) | |
10 | g.86718035C>G | CA377452047 | LDB3 | n.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 |
10 | g.86718035C>T | CA377452045 | LDB3 | n.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 |
10 | g.86718036C>A | CA470308704 | LDB3 | n.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=) | |
10 | g.86718036C= | CA1925632496 | LDB3 | n.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=) | |
10 | g.86718036C>G | CA470308705 | LDB3 | n.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 |
10 | g.86718036C>T | CA470308707 | LDB3 | n.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 |
10 | g.86718037C>A | CA377452050 | LDB3 | n.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) | |
10 | g.86718037C= | CA1925632497 | LDB3 | n.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=) | |
10 | g.86718037C>G | CA377452053 | LDB3 | n.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) | |
10 | g.86718037C>T | CA5585227 | LDB3 | n.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 |
10 | g.86718038T>A | CA377452057 | LDB3 | n.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) | |
10 | g.86718038T>C | CA377452060 | LDB3 | n.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) | |
10 | g.86718038T>G | CA377452059 | LDB3 | n.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 |
10 | g.86718038T= | CA1925632498 | LDB3 | n.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=) | |
10 | g.86718039G>A | CA470308709 | LDB3 | n.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=) | |
10 | g.86718039G>C | CA470308710 | LDB3 | n.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 |
10 | g.86718039G= | CA1925632499 | LDB3 | n.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=) | |
10 | g.86718039G>T | CA470308711 | LDB3 | n.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 |
10 | g.86718040G>A | CA377452064 | LDB3 | n.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) | |
10 | g.86718040G>C | CA377452067 | LDB3 | n.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) | |
10 | g.86718040G= | CA1925632500 | LDB3 | n.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=) | |
10 | g.86718040G>T | CA377452070 | LDB3 | n.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 |
10 | g.86718041C>A | CA377452073 | LDB3 | n.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 |
10 | g.86718041C>G | CA377452075 | LDB3 | n.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) | |
10 | g.86718041C>T | CA377452078 | LDB3 | n.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) | |
10 | g.86718042A= | CA1925632501 | LDB3 | n.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=) | |
10 | g.86718042A>C | CA470308713 | LDB3 | n.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=) | |
10 | g.86718042A>G | CA470308714 | LDB3 | n.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 |
10 | g.86718042A>T | CA470308715 | LDB3 | n.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=) | |
10 | g.86718043G>A | CA377452081 | LDB3 | n.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) | |
10 | g.86718043G>C | CA377452083 | LDB3 | n.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) | |
10 | g.86718043G>T | CA377452086 | LDB3 | n.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) | |
10 | g.86718044A>C | CA377452090 | LDB3 | n.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) | |
10 | g.86718044A>G | CA377452100 | LDB3 | n.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 |
10 | g.86718044A>T | CA377452104 | LDB3 | n.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) | |
10 | g.86718045T>A | CA377452111 | LDB3 | n.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) | |
10 | g.86718045T>C | CA470308719 | LDB3 | n.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=) | |
10 | g.86718045T>G | CA377452108 | LDB3 | n.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) | |
10 | g.86718046G>A | CA377452112 | LDB3 | n.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) | |
10 | g.86718046G>C | CA377452114 | LDB3 | n.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) | |
10 | g.86718046G>T | CA377452116 | LDB3 | n.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) | |
10 | g.86718047T>A | CA377452119 | LDB3 | n.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) | |
10 | g.86718047T>C | CA377452121 | LDB3 | n.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 |
10 | g.86718047T>G | CA377452123 | LDB3 | n.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) | |
10 | g.86718047T= | CA1925632502 | LDB3 | n.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=) | |
10 | g.86718048G>A | CA470308727 | LDB3 | n.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=) | |
10 | g.86718048G>C | CA470308725 | LDB3 | n.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=) | |
10 | g.86718048G>T | CA470308726 | LDB3 | n.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=) | |
10 | g.86718049T>A | CA377452126 | LDB3 | n.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) | |
10 | g.86718049T>C | CA377452127 | LDB3 | n.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) | |
10 | g.86718049T>G | CA377452131 | LDB3 | n.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) | |
10 | g.86718050G>A | CA377452133 | LDB3 | n.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 |
10 | g.86718050G>C | CA377452136 | LDB3 | n.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) | |
10 | g.86718050G= | CA1925632503 | LDB3 | n.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=) | |
10 | g.86718050G>T | CA377452138 | LDB3 | n.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) | |
10 | g.86718051C>A | CA377452146 | LDB3 | n.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) | |
10 | g.86718051C>G | CA377452140 | LDB3 | n.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) | |
10 | g.86718051C>T | CA470308731 | LDB3 | n.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=) | |
10 | g.86718052T>A | CA377452148 | LDB3 | n.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) | |
10 | g.86718052T>C | CA377452151 | LDB3 | n.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) | |
10 | g.86718052T>G | CA377452153 | LDB3 | n.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) | |
10 | g.86718053T>A | CA377452154 | LDB3 | n.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) | |
10 | g.86718053T>C | CA377452157 | LDB3 | n.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) | |
10 | g.86718053T>G | CA377452161 | LDB3 | n.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) | |
10 | g.86718054T>A | CA377452164 | LDB3 | n.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) | |
10 | g.86718054T>C | CA470308735 | LDB3 | n.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=) | |
10 | g.86718054T>G | CA377452162 | LDB3 | n.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) | |
10 | g.86718055G>A | CA377452179 | LDB3 | n.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) | |
10 | g.86718055G>C | CA377452182 | LDB3 | n.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) | |
10 | g.86718055G>T | CA377452184 | LDB3 | n.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 |
10 | g.86718056T>A | CA377452187 | LDB3 | n.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) | |
10 | g.86718056T>C | CA377452189 | LDB3 | n.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 |
10 | g.86718056T>G | CA377452190 | LDB3 | n.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) | |
10 | g.86718057G>A | CA470308740 | LDB3 | n.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=) | |
10 | g.86718057G>C | CA470308741 | LDB3 | n.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=) | |
10 | g.86718057G>T | CA470308742 | LDB3 | n.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=) | |
10 | g.86718058G>A | CA377452191 | LDB3 | n.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 |
10 | g.86718058G>C | CA377452193 | LDB3 | n.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) | |
10 | g.86718058G= | CA1925632505 | LDB3 | n.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=) | |
10 | g.86718058G>T | CA377452192 | LDB3 | n.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) | |
10 | g.86718058_86718059delinsGA | CA1925632504 | LDB3 | n.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=) | |
10 | g.86718059A= | CA1925632506 | LDB3 | n.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=) | |
10 | g.86718059A>C | CA377452194 | LDB3 | n.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) | |
10 | g.86718059A>G | CA377452197 | LDB3 | n.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 |
10 | g.86718059A>T | CA377452199 | LDB3 | n.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) | |
10 | g.86718060del | CA5585228 | LDB3 | n.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 |
10 | g.86718060A>C | CA377452210 | LDB3 | n.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) | |
10 | g.86718060A>G | CA470308748 | LDB3 | n.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=) | |
10 | g.86718060A>T | CA377452214 | LDB3 | n.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) | |
10 | g.86718061G>A | CA377452218 | LDB3 | n.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) | |
10 | g.86718061G>C | CA184647 | LDB3 | n.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 |
10 | g.86718061G= | CA1925632507 | LDB3 | n.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=) | |
10 | g.86718061G>T | CA377452225 | LDB3 | n.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 |
10 | g.86718062A= | CA1925632508 | LDB3 | n.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=) | |
10 | g.86718062A>C | CA377452227 | LDB3 | n.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) | |
10 | g.86718062A>G | CA377452232 | LDB3 | n.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 |
10 | g.86718062A>T | CA377452236 | LDB3 | n.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) | |
10 | g.86718063G>A | CA470308751 | LDB3 | n.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=) | |
10 | g.86718063G>C | CA377452239 | LDB3 | n.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) | |
10 | g.86718063G>T | CA377452240 | LDB3 | n.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) | |
10 | g.86718064C>A | CA377452243 | LDB3 | n.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 |
10 | g.86718064C>G | CA377452247 | LDB3 | n.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) | |
10 | g.86718064C>T | CA377452244 | LDB3 | n.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) | |
10 | g.86718065A= | CA1925632509 | LDB3 | n.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=) | |
10 | g.86718065A>C | CA377452248 | LDB3 | n.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 |
10 | g.86718065A>G | CA377452249 | LDB3 | n.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) | |
10 | g.86718065A>T | CA377452250 | LDB3 | n.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) | |
10 | g.86718066G>A | CA470308753 | LDB3 | n.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 |
10 | g.86718066G>C | CA377452251 | LDB3 | n.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 |
10 | g.86718066G= | CA1925632510 | LDB3 | n.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=) | |
10 | g.86718066G>T | CA377452252 | LDB3 | n.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) | |
10 | g.86718066_86718069delinsGAAC | CA1925632511 | LDB3 | n.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=) | |
10 | g.86718067A>C | CA377452255 | LDB3 | n.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) | |
10 | g.86718067A>G | CA377452258 | LDB3 | n.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) | |
10 | g.86718067A>T | CA377452265 | LDB3 | n.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) | |
10 | g.86718070_86718072del | CA658797457 | LDB3 | n.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 |
10 | g.86718068A= | CA1925632512 | LDB3 | n.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=) | |
10 | g.86718068A>C | CA377452268 | LDB3 | n.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) | |
10 | g.86718068A>G | CA377452269 | LDB3 | n.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 |
10 | g.86718068A>T | CA377452270 | LDB3 | n.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) | |
10 | g.86718069C>A | CA5585229 | LDB3 | n.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 |
10 | g.86718069C= | CA1925632513 | LDB3 | n.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=) | |
10 | g.86718069C>G | CA377452276 | LDB3 | n.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) | |
10 | g.86718069C>T | CA470308755 | LDB3 | n.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=) | |
10 | g.86718070A>C | CA377452280 | LDB3 | n.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) | |
10 | g.86718070A>G | CA377452284 | LDB3 | n.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) | |
10 | g.86718070A>T | CA377452289 | LDB3 | n.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) | |
10 | g.86718071A= | CA1925632514 | LDB3 | n.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=) | |
10 | g.86718071A>C | CA377452292 | LDB3 | n.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) | |
10 | g.86718071A>G | CA377452302 | LDB3 | n.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 |
10 | g.86718071A>T | CA377452305 | LDB3 | n.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) | |
10 | g.86718072C>A | CA377452315 | LDB3 | n.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) | |
10 | g.86718072C= | CA1925632515 | LDB3 | n.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=) | |
10 | g.86718072C>G | CA377452316 | LDB3 | n.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 |
10 | g.86718072C>T | CA5585230 | LDB3 | n.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 |
10 | g.86718073G>A | CA176558 | LDB3 | n.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 |
10 | g.86718073G>C | CA377452330 | LDB3 | n.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) | |
10 | g.86718073G= | CA1925632516 | LDB3 | n.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=) | |
10 | g.86718073G>T | CA377452337 | LDB3 | n.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) | |
10 | g.86718074T>A | CA377452342 | LDB3 | n.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) | |
10 | g.86718074T>C | CA377452345 | LDB3 | n.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 |
10 | g.86718074T>G | CA377452339 | LDB3 | n.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) | |
10 | g.86718075T>A | CA470308764 | LDB3 | n.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=) | |
10 | g.86718075T>C | CA470308766 | LDB3 | n.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 |
10 | g.86718075T>G | CA470308768 | LDB3 | n.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 |
10 | g.86718075T= | CA1925632517 | LDB3 | n.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=) | |
10 | g.86718076T>A | CA5585231 | LDB3 | n.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 |
10 | g.86718076T>C | CA176561 | LDB3 | n.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 |
10 | g.86718076T>G | CA377452354 | LDB3 | n.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 |
10 | g.86718076T= | CA1925632518 | LDB3 | n.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=) | |
10 | g.86718077A>C | CA377452356 | LDB3 | n.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) | |
10 | g.86718077A>G | CA377452358 | LDB3 | n.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) | |
10 | g.86718077A>T | CA377452361 | LDB3 | n.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) | |
10 | g.86718078C>A | CA377452362 | LDB3 | n.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) | |
10 | g.86718078C>G | CA377452363 | LDB3 | n.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) | |
10 | g.86718078C>T | CA470308772 | LDB3 | n.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 |
10 | g.86718079T>A | CA377452364 | LDB3 | n.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) | |
10 | g.86718079T>C | CA377452365 | LDB3 | n.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 |
10 | g.86718079T>G | CA377452366 | LDB3 | n.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 |
10 | g.86718079T= | CA1925632519 | LDB3 | n.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=) | |
10 | g.86718080G>A | CA377452367 | LDB3 | n.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) | |
10 | g.86718080G>C | CA377452368 | LDB3 | n.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) | |
10 | g.86718080G>T | CA377452369 | LDB3 | n.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) | |
10 | g.86718081T>A | CA377452372 | LDB3 | n.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) | |
10 | g.86718081T>C | CA470308778 | LDB3 | n.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 |
10 | g.86718081T>G | CA377452378 | LDB3 | n.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) | |
10 | g.86718082G>A | CA377452381 | LDB3 | n.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 |
10 | g.86718082G>C | CA377452395 | LDB3 | n.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) | |
10 | g.86718082G>T | CA377452399 | LDB3 | n.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 |
10 | g.86718083A>C | CA377452403 | LDB3 | n.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) | |
10 | g.86718083A>G | CA377452411 | LDB3 | n.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) | |
10 | g.86718083A>T | CA377452414 | LDB3 | n.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) | |
10 | g.86718084G>A | CA470308780 | LDB3 | n.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=) | |
10 | g.86718084G>C | CA377452419 | LDB3 | n.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) | |
10 | g.86718084G>T | CA377452423 | LDB3 | n.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) | |
10 | g.86718085C>A | CA470308782 | LDB3 | n.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 |
10 | g.86718085C= | CA1925632520 | LDB3 | n.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=) | |
10 | g.86718085C>G | CA377452427 | LDB3 | n.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) | |
10 | g.86718085C>T | CA176564 | LDB3 | n.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 |
10 | g.86718086del | CA2722430319 | LDB3 | n.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 |
10 | g.86718086G>A | CA308648 | LDB3 | n.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 |
10 | g.86718086G>C | CA235802 | LDB3 | n.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 |
10 | g.86718086G= | CA1925632521 | LDB3 | n.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=) | |
10 | g.86718086G>T | CA377452440 | LDB3 | n.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) | |
10 | g.86718087A>C | CA470308784 | LDB3 | n.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=) | |
10 | g.86718087A>G | CA470308785 | LDB3 | n.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=) | |
10 | g.86718087A>T | CA470308786 | LDB3 | n.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=) | |
10 | g.86718088T>A | CA377452442 | LDB3 | n.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 |
10 | g.86718088T>C | CA377452447 | LDB3 | n.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 |
10 | g.86718088T>G | CA377452445 | LDB3 | n.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) | |
10 | g.86718088T= | CA1925632522 | LDB3 | n.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=) | |
10 | g.86718088_86718096del | CA2722430330 | LDB3 | n.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 |
10 | g.86718089G>A | CA377452449 | LDB3 | n.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 |
10 | g.86718089G>C | CA377452453 | LDB3 | n.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) | |
10 | g.86718089G= | CA1925632523 | LDB3 | n.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=) | |
10 | g.86718089G>T | CA377452451 | LDB3 | n.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) | |
10 | g.86718090T>A | CA377452455 | LDB3 | n.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) | |
10 | g.86718090T>C | CA470308789 | LDB3 | n.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=) | |
10 | g.86718090T>G | CA377452456 | LDB3 | n.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) | |
10 | g.86718091T>A | CA377452465 | LDB3 | n.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) | |
10 | g.86718091T>C | CA377452466 | LDB3 | n.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 |
10 | g.86718091T>G | CA377452467 | LDB3 | n.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) | |
10 | g.86718091T= | CA1925632524 | LDB3 | n.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=) | |
10 | g.86718092A= | CA1925632525 | LDB3 | n.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=) | |
10 | g.86718092A>C | CA377452469 | LDB3 | n.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 |
10 | g.86718092A>G | CA377452471 | LDB3 | n.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) | |
10 | g.86718092A>T | CA377452475 | LDB3 | n.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 |
10 | g.86718093T>A | CA377452482 | LDB3 | n.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 |
10 | g.86718093T>C | CA470308791 | LDB3 | n.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=) | |
10 | g.86718093T>G | CA377452502 | LDB3 | n.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) | |
10 | g.86718094G>A | CA377452508 | LDB3 | n.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) | |
10 | g.86718094G>C | CA377452513 | LDB3 | n.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) | |
10 | g.86718094G>T | CA377452515 | LDB3 | n.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) | |
10 | g.86718095A>C | CA377452518 | LDB3 | n.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) | |
10 | g.86718095A>G | CA377452524 | LDB3 | n.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) | |
10 | g.86718095A>T | CA377452522 | LDB3 | n.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) | |
10 | g.86718096G>A | CA470308792 | LDB3 | n.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 |
10 | g.86718096G>C | CA377452525 | LDB3 | n.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) | |
10 | g.86718096G= | CA1925632526 | LDB3 | n.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=) | |
10 | g.86718096G>T | CA377452526 | LDB3 | n.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) | |
10 | g.86718097C>A | CA377452527 | LDB3 | n.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) | |
10 | g.86718097C>G | CA377452528 | LDB3 | n.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) | |
10 | g.86718097C>T | CA377452529 | LDB3 | n.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) | |
10 | g.86718098A>C | CA377452533 | LDB3 | n.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) | |
10 | g.86718098A>G | CA377452534 | LDB3 | n.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) | |
10 | g.86718098A>T | CA377452535 | LDB3 | n.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) | |
10 | g.86718098_86718103del | CA2722430471 | LDB3 | n.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 |
10 | g.86718099A= | CA1925632527 | LDB3 | n.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=) | |
10 | g.86718099A>C | CA377452536 | LDB3 | n.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) | |
10 | g.86718099A>G | CA470308793 | LDB3 | n.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 |
10 | g.86718099A>T | CA377452538 | LDB3 | n.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) |