| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.86718110C>A | CA377452628 | LDB3 | n.515-617C>A c.1634C>A (p.Pro545Gln) c.1682C>A (p.Pro561Gln) c.1823C>A (p.Pro608Gln) c.1493C>A (p.Pro498Gln) c.1838C>A (p.Pro613Gln) c.2075C>A (p.Pro692Gln) c.2027C>A (p.Pro676Gln) c.1886C>A (p.Pro629Gln) c.1871C>A (p.Pro624Gln) c.1730C>A (p.Pro577Gln) c.1541C>A (p.Pro514Gln) c.1526C>A (p.Pro509Gln) c.1031C>A (p.Pro344Gln) c.842C>A (p.Pro281Gln) | |
| 10 | g.86718110C= | CA1925632531 | LDB3 | n.515-617C= c.1634C= (p.Pro545=) c.1682C= (p.Pro561=) c.1823C= (p.Pro608=) c.1493C= (p.Pro498=) c.1838C= (p.Pro613=) c.2075C= (p.Pro692=) c.2027C= (p.Pro676=) c.1886C= (p.Pro629=) c.1871C= (p.Pro624=) c.1730C= (p.Pro577=) c.1541C= (p.Pro514=) c.1526C= (p.Pro509=) c.1031C= (p.Pro344=) c.842C= (p.Pro281=) | |
| 10 | g.86718110C>G | CA377452632 | LDB3 | n.515-617C>G c.1634C>G (p.Pro545Arg) c.1682C>G (p.Pro561Arg) c.1823C>G (p.Pro608Arg) c.1493C>G (p.Pro498Arg) c.1838C>G (p.Pro613Arg) c.2075C>G (p.Pro692Arg) c.2027C>G (p.Pro676Arg) c.1886C>G (p.Pro629Arg) c.1871C>G (p.Pro624Arg) c.1730C>G (p.Pro577Arg) c.1541C>G (p.Pro514Arg) c.1526C>G (p.Pro509Arg) c.1031C>G (p.Pro344Arg) c.842C>G (p.Pro281Arg) | |
| 10 | g.86718110C>T | CA136561 | LDB3 | n.515-617C>T c.1634C>T (p.Pro545Leu) c.1682C>T (p.Pro561Leu) c.1823C>T (p.Pro608Leu) c.1493C>T (p.Pro498Leu) c.1838C>T (p.Pro613Leu) c.2075C>T (p.Pro692Leu) c.2027C>T (p.Pro676Leu) c.1886C>T (p.Pro629Leu) c.1871C>T (p.Pro624Leu) c.1730C>T (p.Pro577Leu) c.1541C>T (p.Pro514Leu) c.1526C>T (p.Pro509Leu) c.1031C>T (p.Pro344Leu) c.842C>T (p.Pro281Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.86718111G>A | CA5585233 | LDB3 | n.515-616G>A c.1635G>A (p.Pro545=) c.1683G>A (p.Pro561=) c.1824G>A (p.Pro608=) c.1494G>A (p.Pro498=) c.1839G>A (p.Pro613=) c.2076G>A (p.Pro692=) c.2028G>A (p.Pro676=) c.1887G>A (p.Pro629=) c.1872G>A (p.Pro624=) c.1731G>A (p.Pro577=) c.1542G>A (p.Pro514=) c.1527G>A (p.Pro509=) c.1032G>A (p.Pro344=) c.843G>A (p.Pro281=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.86718111G>C | CA470308806 | LDB3 | n.515-616G>C c.1635G>C (p.Pro545=) c.1683G>C (p.Pro561=) c.1824G>C (p.Pro608=) c.1494G>C (p.Pro498=) c.1839G>C (p.Pro613=) c.2076G>C (p.Pro692=) c.2028G>C (p.Pro676=) c.1887G>C (p.Pro629=) c.1872G>C (p.Pro624=) c.1731G>C (p.Pro577=) c.1542G>C (p.Pro514=) c.1527G>C (p.Pro509=) c.1032G>C (p.Pro344=) c.843G>C (p.Pro281=) | gnomAD v4 |
| 10 | g.86718111G= | CA1925632532 | LDB3 | n.515-616G= c.1635G= (p.Pro545=) c.1683G= (p.Pro561=) c.1824G= (p.Pro608=) c.1494G= (p.Pro498=) c.1839G= (p.Pro613=) c.2076G= (p.Pro692=) c.2028G= (p.Pro676=) c.1887G= (p.Pro629=) c.1872G= (p.Pro624=) c.1731G= (p.Pro577=) c.1542G= (p.Pro514=) c.1527G= (p.Pro509=) c.1032G= (p.Pro344=) c.843G= (p.Pro281=) | |
| 10 | g.86718111G>T | CA470308807 | LDB3 | n.515-616G>T c.1635G>T (p.Pro545=) c.1683G>T (p.Pro561=) c.1824G>T (p.Pro608=) c.1494G>T (p.Pro498=) c.1839G>T (p.Pro613=) c.2076G>T (p.Pro692=) c.2028G>T (p.Pro676=) c.1887G>T (p.Pro629=) c.1872G>T (p.Pro624=) c.1731G>T (p.Pro577=) c.1542G>T (p.Pro514=) c.1527G>T (p.Pro509=) c.1032G>T (p.Pro344=) c.843G>T (p.Pro281=) | ClinVar gnomAD v4 |
| 10 | g.86718111_86718112delinsAA | CA2573145670 | LDB3 | n.515-616_515-615delinsAA c.1635_1636delinsAA (p.Leu546Met) c.1683_1684delinsAA (p.Leu562Met) c.1824_1825delinsAA (p.Leu609Met) c.1494_1495delinsAA (p.Leu499Met) c.1839_1840delinsAA (p.Leu614Met) c.2076_2077delinsAA (p.Leu693Met) c.2028_2029delinsAA (p.Leu677Met) c.1887_1888delinsAA (p.Leu630Met) c.1872_1873delinsAA (p.Leu625Met) c.1731_1732delinsAA (p.Leu578Met) c.1542_1543delinsAA (p.Leu515Met) c.1527_1528delinsAA (p.Leu510Met) c.1032_1033delinsAA (p.Leu345Met) c.843_844delinsAA (p.Leu282Met) | ClinVar dbSNP |
| 10 | g.86718112C>A | CA377452640 | LDB3 | n.515-615C>A c.1636C>A (p.Leu546Met) c.1684C>A (p.Leu562Met) c.1825C>A (p.Leu609Met) c.1495C>A (p.Leu499Met) c.1840C>A (p.Leu614Met) c.2077C>A (p.Leu693Met) c.2029C>A (p.Leu677Met) c.1888C>A (p.Leu630Met) c.1873C>A (p.Leu625Met) c.1732C>A (p.Leu578Met) c.1543C>A (p.Leu515Met) c.1528C>A (p.Leu510Met) c.1033C>A (p.Leu345Met) c.844C>A (p.Leu282Met) | gnomAD v4 |
| 10 | g.86718112C>G | CA377452644 | LDB3 | n.515-615C>G c.1636C>G (p.Leu546Val) c.1684C>G (p.Leu562Val) c.1825C>G (p.Leu609Val) c.1495C>G (p.Leu499Val) c.1840C>G (p.Leu614Val) c.2077C>G (p.Leu693Val) c.2029C>G (p.Leu677Val) c.1888C>G (p.Leu630Val) c.1873C>G (p.Leu625Val) c.1732C>G (p.Leu578Val) c.1543C>G (p.Leu515Val) c.1528C>G (p.Leu510Val) c.1033C>G (p.Leu345Val) c.844C>G (p.Leu282Val) | |
| 10 | g.86718112C>T | CA470308809 | LDB3 | n.515-615C>T c.1636C>T (p.Leu546=) c.1684C>T (p.Leu562=) c.1825C>T (p.Leu609=) c.1495C>T (p.Leu499=) c.1840C>T (p.Leu614=) c.2077C>T (p.Leu693=) c.2029C>T (p.Leu677=) c.1888C>T (p.Leu630=) c.1873C>T (p.Leu625=) c.1732C>T (p.Leu578=) c.1543C>T (p.Leu515=) c.1528C>T (p.Leu510=) c.1033C>T (p.Leu345=) c.844C>T (p.Leu282=) | |
| 10 | g.86718113T>A | CA377452651 | LDB3 | n.515-614T>A c.1637T>A (p.Leu546Gln) c.1685T>A (p.Leu562Gln) c.1826T>A (p.Leu609Gln) c.1496T>A (p.Leu499Gln) c.1841T>A (p.Leu614Gln) c.2078T>A (p.Leu693Gln) c.2030T>A (p.Leu677Gln) c.1889T>A (p.Leu630Gln) c.1874T>A (p.Leu625Gln) c.1733T>A (p.Leu578Gln) c.1544T>A (p.Leu515Gln) c.1529T>A (p.Leu510Gln) c.1034T>A (p.Leu345Gln) c.845T>A (p.Leu282Gln) | |
| 10 | g.86718113T>C | CA377452655 | LDB3 | n.515-614T>C c.1637T>C (p.Leu546Pro) c.1685T>C (p.Leu562Pro) c.1826T>C (p.Leu609Pro) c.1496T>C (p.Leu499Pro) c.1841T>C (p.Leu614Pro) c.2078T>C (p.Leu693Pro) c.2030T>C (p.Leu677Pro) c.1889T>C (p.Leu630Pro) c.1874T>C (p.Leu625Pro) c.1733T>C (p.Leu578Pro) c.1544T>C (p.Leu515Pro) c.1529T>C (p.Leu510Pro) c.1034T>C (p.Leu345Pro) c.845T>C (p.Leu282Pro) | |
| 10 | g.86718113T>G | CA377452648 | LDB3 | n.515-614T>G c.1637T>G (p.Leu546Arg) c.1685T>G (p.Leu562Arg) c.1826T>G (p.Leu609Arg) c.1496T>G (p.Leu499Arg) c.1841T>G (p.Leu614Arg) c.2078T>G (p.Leu693Arg) c.2030T>G (p.Leu677Arg) c.1889T>G (p.Leu630Arg) c.1874T>G (p.Leu625Arg) c.1733T>G (p.Leu578Arg) c.1544T>G (p.Leu515Arg) c.1529T>G (p.Leu510Arg) c.1034T>G (p.Leu345Arg) c.845T>G (p.Leu282Arg) | |
| 10 | g.86718114G>A | CA470308815 | LDB3 | n.515-613G>A c.1638G>A (p.Leu546=) c.1686G>A (p.Leu562=) c.1827G>A (p.Leu609=) c.1497G>A (p.Leu499=) c.1842G>A (p.Leu614=) c.2079G>A (p.Leu693=) c.2031G>A (p.Leu677=) c.1890G>A (p.Leu630=) c.1875G>A (p.Leu625=) c.1734G>A (p.Leu578=) c.1545G>A (p.Leu515=) c.1530G>A (p.Leu510=) c.1035G>A (p.Leu345=) c.846G>A (p.Leu282=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 10 | g.86718114G>C | CA470308816 | LDB3 | n.515-613G>C c.1638G>C (p.Leu546=) c.1686G>C (p.Leu562=) c.1827G>C (p.Leu609=) c.1497G>C (p.Leu499=) c.1842G>C (p.Leu614=) c.2079G>C (p.Leu693=) c.2031G>C (p.Leu677=) c.1890G>C (p.Leu630=) c.1875G>C (p.Leu625=) c.1734G>C (p.Leu578=) c.1545G>C (p.Leu515=) c.1530G>C (p.Leu510=) c.1035G>C (p.Leu345=) c.846G>C (p.Leu282=) | ClinVar gnomAD v4 |
| 10 | g.86718114G= | CA1925632533 | LDB3 | n.515-613G= c.1638G= (p.Leu546=) c.1686G= (p.Leu562=) c.1827G= (p.Leu609=) c.1497G= (p.Leu499=) c.1842G= (p.Leu614=) c.2079G= (p.Leu693=) c.2031G= (p.Leu677=) c.1890G= (p.Leu630=) c.1875G= (p.Leu625=) c.1734G= (p.Leu578=) c.1545G= (p.Leu515=) c.1530G= (p.Leu510=) c.1035G= (p.Leu345=) c.846G= (p.Leu282=) | |
| 10 | g.86718114G>T | CA470308818 | LDB3 | n.515-613G>T c.1638G>T (p.Leu546=) c.1686G>T (p.Leu562=) c.1827G>T (p.Leu609=) c.1497G>T (p.Leu499=) c.1842G>T (p.Leu614=) c.2079G>T (p.Leu693=) c.2031G>T (p.Leu677=) c.1890G>T (p.Leu630=) c.1875G>T (p.Leu625=) c.1734G>T (p.Leu578=) c.1545G>T (p.Leu515=) c.1530G>T (p.Leu510=) c.1035G>T (p.Leu345=) c.846G>T (p.Leu282=) | |
| 10 | g.86718115T>A | CA377452657 | LDB3 | n.515-612T>A c.1639T>A (p.Cys547Ser) c.1687T>A (p.Cys563Ser) c.1828T>A (p.Cys610Ser) c.1498T>A (p.Cys500Ser) c.1843T>A (p.Cys615Ser) c.2080T>A (p.Cys694Ser) c.2032T>A (p.Cys678Ser) c.1891T>A (p.Cys631Ser) c.1876T>A (p.Cys626Ser) c.1735T>A (p.Cys579Ser) c.1546T>A (p.Cys516Ser) c.1531T>A (p.Cys511Ser) c.1036T>A (p.Cys346Ser) c.847T>A (p.Cys283Ser) | |
| 10 | g.86718115T>C | CA377452660 | LDB3 | n.515-612T>C c.1639T>C (p.Cys547Arg) c.1687T>C (p.Cys563Arg) c.1828T>C (p.Cys610Arg) c.1498T>C (p.Cys500Arg) c.1843T>C (p.Cys615Arg) c.2080T>C (p.Cys694Arg) c.2032T>C (p.Cys678Arg) c.1891T>C (p.Cys631Arg) c.1876T>C (p.Cys626Arg) c.1735T>C (p.Cys579Arg) c.1546T>C (p.Cys516Arg) c.1531T>C (p.Cys511Arg) c.1036T>C (p.Cys346Arg) c.847T>C (p.Cys283Arg) | |
| 10 | g.86718115T>G | CA377452659 | LDB3 | n.515-612T>G c.1639T>G (p.Cys547Gly) c.1687T>G (p.Cys563Gly) c.1828T>G (p.Cys610Gly) c.1498T>G (p.Cys500Gly) c.1843T>G (p.Cys615Gly) c.2080T>G (p.Cys694Gly) c.2032T>G (p.Cys678Gly) c.1891T>G (p.Cys631Gly) c.1876T>G (p.Cys626Gly) c.1735T>G (p.Cys579Gly) c.1546T>G (p.Cys516Gly) c.1531T>G (p.Cys511Gly) c.1036T>G (p.Cys346Gly) c.847T>G (p.Cys283Gly) | |
| 10 | g.86718116G>A | CA377452661 | LDB3 | n.515-611G>A c.1640G>A (p.Cys547Tyr) c.1688G>A (p.Cys563Tyr) c.1829G>A (p.Cys610Tyr) c.1499G>A (p.Cys500Tyr) c.1844G>A (p.Cys615Tyr) c.2081G>A (p.Cys694Tyr) c.2033G>A (p.Cys678Tyr) c.1892G>A (p.Cys631Tyr) c.1877G>A (p.Cys626Tyr) c.1736G>A (p.Cys579Tyr) c.1547G>A (p.Cys516Tyr) c.1532G>A (p.Cys511Tyr) c.1037G>A (p.Cys346Tyr) c.848G>A (p.Cys283Tyr) | |
| 10 | g.86718116G>C | CA377452662 | LDB3 | n.515-611G>C c.1640G>C (p.Cys547Ser) c.1688G>C (p.Cys563Ser) c.1829G>C (p.Cys610Ser) c.1499G>C (p.Cys500Ser) c.1844G>C (p.Cys615Ser) c.2081G>C (p.Cys694Ser) c.2033G>C (p.Cys678Ser) c.1892G>C (p.Cys631Ser) c.1877G>C (p.Cys626Ser) c.1736G>C (p.Cys579Ser) c.1547G>C (p.Cys516Ser) c.1532G>C (p.Cys511Ser) c.1037G>C (p.Cys346Ser) c.848G>C (p.Cys283Ser) | |
| 10 | g.86718116G>T | CA377452664 | LDB3 | n.515-611G>T c.1640G>T (p.Cys547Phe) c.1688G>T (p.Cys563Phe) c.1829G>T (p.Cys610Phe) c.1499G>T (p.Cys500Phe) c.1844G>T (p.Cys615Phe) c.2081G>T (p.Cys694Phe) c.2033G>T (p.Cys678Phe) c.1892G>T (p.Cys631Phe) c.1877G>T (p.Cys626Phe) c.1736G>T (p.Cys579Phe) c.1547G>T (p.Cys516Phe) c.1532G>T (p.Cys511Phe) c.1037G>T (p.Cys346Phe) c.848G>T (p.Cys283Phe) | |
| 10 | g.86718117T>A | CA377452665 | LDB3 | n.515-610T>A c.1641T>A (p.Cys547Ter) c.1689T>A (p.Cys563Ter) c.1830T>A (p.Cys610Ter) c.1500T>A (p.Cys500Ter) c.1845T>A (p.Cys615Ter) c.2082T>A (p.Cys694Ter) c.2034T>A (p.Cys678Ter) c.1893T>A (p.Cys631Ter) c.1878T>A (p.Cys626Ter) c.1737T>A (p.Cys579Ter) c.1548T>A (p.Cys516Ter) c.1533T>A (p.Cys511Ter) c.1038T>A (p.Cys346Ter) c.849T>A (p.Cys283Ter) | |
| 10 | g.86718117T>C | CA470308820 | LDB3 | n.515-610T>C c.1641T>C (p.Cys547=) c.1689T>C (p.Cys563=) c.1830T>C (p.Cys610=) c.1500T>C (p.Cys500=) c.1845T>C (p.Cys615=) c.2082T>C (p.Cys694=) c.2034T>C (p.Cys678=) c.1893T>C (p.Cys631=) c.1878T>C (p.Cys626=) c.1737T>C (p.Cys579=) c.1548T>C (p.Cys516=) c.1533T>C (p.Cys511=) c.1038T>C (p.Cys346=) c.849T>C (p.Cys283=) | |
| 10 | g.86718117T>G | CA377452672 | LDB3 | n.515-610T>G c.1641T>G (p.Cys547Trp) c.1689T>G (p.Cys563Trp) c.1830T>G (p.Cys610Trp) c.1500T>G (p.Cys500Trp) c.1845T>G (p.Cys615Trp) c.2082T>G (p.Cys694Trp) c.2034T>G (p.Cys678Trp) c.1893T>G (p.Cys631Trp) c.1878T>G (p.Cys626Trp) c.1737T>G (p.Cys579Trp) c.1548T>G (p.Cys516Trp) c.1533T>G (p.Cys511Trp) c.1038T>G (p.Cys346Trp) c.849T>G (p.Cys283Trp) | |
| 10 | g.86718118G>A | CA377452675 | LDB3 | n.515-609G>A c.1642G>A (p.Ala548Thr) c.1690G>A (p.Ala564Thr) c.1831G>A (p.Ala611Thr) c.1501G>A (p.Ala501Thr) c.1846G>A (p.Ala616Thr) c.2083G>A (p.Ala695Thr) c.2035G>A (p.Ala679Thr) c.1894G>A (p.Ala632Thr) c.1879G>A (p.Ala627Thr) c.1738G>A (p.Ala580Thr) c.1549G>A (p.Ala517Thr) c.1534G>A (p.Ala512Thr) c.1039G>A (p.Ala347Thr) c.850G>A (p.Ala284Thr) | |
| 10 | g.86718118G>C | CA377452681 | LDB3 | n.515-609G>C c.1642G>C (p.Ala548Pro) c.1690G>C (p.Ala564Pro) c.1831G>C (p.Ala611Pro) c.1501G>C (p.Ala501Pro) c.1846G>C (p.Ala616Pro) c.2083G>C (p.Ala695Pro) c.2035G>C (p.Ala679Pro) c.1894G>C (p.Ala632Pro) c.1879G>C (p.Ala627Pro) c.1738G>C (p.Ala580Pro) c.1549G>C (p.Ala517Pro) c.1534G>C (p.Ala512Pro) c.1039G>C (p.Ala347Pro) c.850G>C (p.Ala284Pro) | |
| 10 | g.86718118G>T | CA377452682 | LDB3 | n.515-609G>T c.1642G>T (p.Ala548Ser) c.1690G>T (p.Ala564Ser) c.1831G>T (p.Ala611Ser) c.1501G>T (p.Ala501Ser) c.1846G>T (p.Ala616Ser) c.2083G>T (p.Ala695Ser) c.2035G>T (p.Ala679Ser) c.1894G>T (p.Ala632Ser) c.1879G>T (p.Ala627Ser) c.1738G>T (p.Ala580Ser) c.1549G>T (p.Ala517Ser) c.1534G>T (p.Ala512Ser) c.1039G>T (p.Ala347Ser) c.850G>T (p.Ala284Ser) | |
| 10 | g.86718119C>A | CA377452686 | LDB3 | n.515-608C>A c.1643C>A (p.Ala548Asp) c.1691C>A (p.Ala564Asp) c.1832C>A (p.Ala611Asp) c.1502C>A (p.Ala501Asp) c.1847C>A (p.Ala616Asp) c.2084C>A (p.Ala695Asp) c.2036C>A (p.Ala679Asp) c.1895C>A (p.Ala632Asp) c.1880C>A (p.Ala627Asp) c.1739C>A (p.Ala580Asp) c.1550C>A (p.Ala517Asp) c.1535C>A (p.Ala512Asp) c.1040C>A (p.Ala347Asp) c.851C>A (p.Ala284Asp) | |
| 10 | g.86718119C>G | CA377452689 | LDB3 | n.515-608C>G c.1643C>G (p.Ala548Gly) c.1691C>G (p.Ala564Gly) c.1832C>G (p.Ala611Gly) c.1502C>G (p.Ala501Gly) c.1847C>G (p.Ala616Gly) c.2084C>G (p.Ala695Gly) c.2036C>G (p.Ala679Gly) c.1895C>G (p.Ala632Gly) c.1880C>G (p.Ala627Gly) c.1739C>G (p.Ala580Gly) c.1550C>G (p.Ala517Gly) c.1535C>G (p.Ala512Gly) c.1040C>G (p.Ala347Gly) c.851C>G (p.Ala284Gly) | |
| 10 | g.86718119C>T | CA377452690 | LDB3 | n.515-608C>T c.1643C>T (p.Ala548Val) c.1691C>T (p.Ala564Val) c.1832C>T (p.Ala611Val) c.1502C>T (p.Ala501Val) c.1847C>T (p.Ala616Val) c.2084C>T (p.Ala695Val) c.2036C>T (p.Ala679Val) c.1895C>T (p.Ala632Val) c.1880C>T (p.Ala627Val) c.1739C>T (p.Ala580Val) c.1550C>T (p.Ala517Val) c.1535C>T (p.Ala512Val) c.1040C>T (p.Ala347Val) c.851C>T (p.Ala284Val) | COSMIC COSMIC |
| 10 | g.86718120C>A | CA470308826 | LDB3 | n.515-607C>A c.1644C>A (p.Ala548=) c.1692C>A (p.Ala564=) c.1833C>A (p.Ala611=) c.1503C>A (p.Ala501=) c.1848C>A (p.Ala616=) c.2085C>A (p.Ala695=) c.2037C>A (p.Ala679=) c.1896C>A (p.Ala632=) c.1881C>A (p.Ala627=) c.1740C>A (p.Ala580=) c.1551C>A (p.Ala517=) c.1536C>A (p.Ala512=) c.1041C>A (p.Ala347=) c.852C>A (p.Ala284=) | |
| 10 | g.86718120C>G | CA470308828 | LDB3 | n.515-607C>G c.1644C>G (p.Ala548=) c.1692C>G (p.Ala564=) c.1833C>G (p.Ala611=) c.1503C>G (p.Ala501=) c.1848C>G (p.Ala616=) c.2085C>G (p.Ala695=) c.2037C>G (p.Ala679=) c.1896C>G (p.Ala632=) c.1881C>G (p.Ala627=) c.1740C>G (p.Ala580=) c.1551C>G (p.Ala517=) c.1536C>G (p.Ala512=) c.1041C>G (p.Ala347=) c.852C>G (p.Ala284=) | |
| 10 | g.86718120C>T | CA470308827 | LDB3 | n.515-607C>T c.1644C>T (p.Ala548=) c.1692C>T (p.Ala564=) c.1833C>T (p.Ala611=) c.1503C>T (p.Ala501=) c.1848C>T (p.Ala616=) c.2085C>T (p.Ala695=) c.2037C>T (p.Ala679=) c.1896C>T (p.Ala632=) c.1881C>T (p.Ala627=) c.1740C>T (p.Ala580=) c.1551C>T (p.Ala517=) c.1536C>T (p.Ala512=) c.1041C>T (p.Ala347=) c.852C>T (p.Ala284=) | |
| 10 | g.86718121A>C | CA377452694 | LDB3 | n.515-606A>C c.1645A>C (p.Lys549Gln) c.1693A>C (p.Lys565Gln) c.1834A>C (p.Lys612Gln) c.1504A>C (p.Lys502Gln) c.1849A>C (p.Lys617Gln) c.2086A>C (p.Lys696Gln) c.2038A>C (p.Lys680Gln) c.1897A>C (p.Lys633Gln) c.1882A>C (p.Lys628Gln) c.1741A>C (p.Lys581Gln) c.1552A>C (p.Lys518Gln) c.1537A>C (p.Lys513Gln) c.1042A>C (p.Lys348Gln) c.853A>C (p.Lys285Gln) | |
| 10 | g.86718121A>G | CA377452692 | LDB3 | n.515-606A>G c.1645A>G (p.Lys549Glu) c.1693A>G (p.Lys565Glu) c.1834A>G (p.Lys612Glu) c.1504A>G (p.Lys502Glu) c.1849A>G (p.Lys617Glu) c.2086A>G (p.Lys696Glu) c.2038A>G (p.Lys680Glu) c.1897A>G (p.Lys633Glu) c.1882A>G (p.Lys628Glu) c.1741A>G (p.Lys581Glu) c.1552A>G (p.Lys518Glu) c.1537A>G (p.Lys513Glu) c.1042A>G (p.Lys348Glu) c.853A>G (p.Lys285Glu) | gnomAD v4 |
| 10 | g.86718121A>T | CA377452691 | LDB3 | n.515-606A>T c.1645A>T (p.Lys549Ter) c.1693A>T (p.Lys565Ter) c.1834A>T (p.Lys612Ter) c.1504A>T (p.Lys502Ter) c.1849A>T (p.Lys617Ter) c.2086A>T (p.Lys696Ter) c.2038A>T (p.Lys680Ter) c.1897A>T (p.Lys633Ter) c.1882A>T (p.Lys628Ter) c.1741A>T (p.Lys581Ter) c.1552A>T (p.Lys518Ter) c.1537A>T (p.Lys513Ter) c.1042A>T (p.Lys348Ter) c.853A>T (p.Lys285Ter) | |
| 10 | g.86718122A>C | CA377452697 | LDB3 | n.515-605A>C c.1646A>C (p.Lys549Thr) c.1694A>C (p.Lys565Thr) c.1835A>C (p.Lys612Thr) c.1505A>C (p.Lys502Thr) c.1850A>C (p.Lys617Thr) c.2087A>C (p.Lys696Thr) c.2039A>C (p.Lys680Thr) c.1898A>C (p.Lys633Thr) c.1883A>C (p.Lys628Thr) c.1742A>C (p.Lys581Thr) c.1553A>C (p.Lys518Thr) c.1538A>C (p.Lys513Thr) c.1043A>C (p.Lys348Thr) c.854A>C (p.Lys285Thr) | |
| 10 | g.86718122A>G | CA377452700 | LDB3 | n.515-605A>G c.1646A>G (p.Lys549Arg) c.1694A>G (p.Lys565Arg) c.1835A>G (p.Lys612Arg) c.1505A>G (p.Lys502Arg) c.1850A>G (p.Lys617Arg) c.2087A>G (p.Lys696Arg) c.2039A>G (p.Lys680Arg) c.1898A>G (p.Lys633Arg) c.1883A>G (p.Lys628Arg) c.1742A>G (p.Lys581Arg) c.1553A>G (p.Lys518Arg) c.1538A>G (p.Lys513Arg) c.1043A>G (p.Lys348Arg) c.854A>G (p.Lys285Arg) | ClinVar |
| 10 | g.86718122A>T | CA377452703 | LDB3 | n.515-605A>T c.1646A>T (p.Lys549Met) c.1694A>T (p.Lys565Met) c.1835A>T (p.Lys612Met) c.1505A>T (p.Lys502Met) c.1850A>T (p.Lys617Met) c.2087A>T (p.Lys696Met) c.2039A>T (p.Lys680Met) c.1898A>T (p.Lys633Met) c.1883A>T (p.Lys628Met) c.1742A>T (p.Lys581Met) c.1553A>T (p.Lys518Met) c.1538A>T (p.Lys513Met) c.1043A>T (p.Lys348Met) c.854A>T (p.Lys285Met) | ClinVar |
| 10 | g.86718123G>A | CA10587094 | LDB3 | n.515-604G>A c.1647G>A (p.Lys549=) c.1695G>A (p.Lys565=) c.1836G>A (p.Lys612=) c.1506G>A (p.Lys502=) c.1851G>A (p.Lys617=) c.2088G>A (p.Lys696=) c.2040G>A (p.Lys680=) c.1899G>A (p.Lys633=) c.1884G>A (p.Lys628=) c.1743G>A (p.Lys581=) c.1554G>A (p.Lys518=) c.1539G>A (p.Lys513=) c.1044G>A (p.Lys348=) c.855G>A (p.Lys285=) | ClinVar dbSNP |
| 10 | g.86718123G>C | CA377452708 | LDB3 | n.515-604G>C c.1647G>C (p.Lys549Asn) c.1695G>C (p.Lys565Asn) c.1836G>C (p.Lys612Asn) c.1506G>C (p.Lys502Asn) c.1851G>C (p.Lys617Asn) c.2088G>C (p.Lys696Asn) c.2040G>C (p.Lys680Asn) c.1899G>C (p.Lys633Asn) c.1884G>C (p.Lys628Asn) c.1743G>C (p.Lys581Asn) c.1554G>C (p.Lys518Asn) c.1539G>C (p.Lys513Asn) c.1044G>C (p.Lys348Asn) c.855G>C (p.Lys285Asn) | |
| 10 | g.86718123G= | CA1925632534 | LDB3 | n.515-604G= c.1647G= (p.Lys549=) c.1695G= (p.Lys565=) c.1836G= (p.Lys612=) c.1506G= (p.Lys502=) c.1851G= (p.Lys617=) c.2088G= (p.Lys696=) c.2040G= (p.Lys680=) c.1899G= (p.Lys633=) c.1884G= (p.Lys628=) c.1743G= (p.Lys581=) c.1554G= (p.Lys518=) c.1539G= (p.Lys513=) c.1044G= (p.Lys348=) c.855G= (p.Lys285=) | |
| 10 | g.86718123G>T | CA377452710 | LDB3 | n.515-604G>T c.1647G>T (p.Lys549Asn) c.1695G>T (p.Lys565Asn) c.1836G>T (p.Lys612Asn) c.1506G>T (p.Lys502Asn) c.1851G>T (p.Lys617Asn) c.2088G>T (p.Lys696Asn) c.2040G>T (p.Lys680Asn) c.1899G>T (p.Lys633Asn) c.1884G>T (p.Lys628Asn) c.1743G>T (p.Lys581Asn) c.1554G>T (p.Lys518Asn) c.1539G>T (p.Lys513Asn) c.1044G>T (p.Lys348Asn) c.855G>T (p.Lys285Asn) | |
| 10 | g.86718124T>A | CA377452716 | LDB3 | n.515-603T>A c.1648T>A (p.Cys550Ser) c.1696T>A (p.Cys566Ser) c.1837T>A (p.Cys613Ser) c.1507T>A (p.Cys503Ser) c.1852T>A (p.Cys618Ser) c.2089T>A (p.Cys697Ser) c.2041T>A (p.Cys681Ser) c.1900T>A (p.Cys634Ser) c.1885T>A (p.Cys629Ser) c.1744T>A (p.Cys582Ser) c.1555T>A (p.Cys519Ser) c.1540T>A (p.Cys514Ser) c.1045T>A (p.Cys349Ser) c.856T>A (p.Cys286Ser) | |
| 10 | g.86718124T>C | CA377452718 | LDB3 | n.515-603T>C c.1648T>C (p.Cys550Arg) c.1696T>C (p.Cys566Arg) c.1837T>C (p.Cys613Arg) c.1507T>C (p.Cys503Arg) c.1852T>C (p.Cys618Arg) c.2089T>C (p.Cys697Arg) c.2041T>C (p.Cys681Arg) c.1900T>C (p.Cys634Arg) c.1885T>C (p.Cys629Arg) c.1744T>C (p.Cys582Arg) c.1555T>C (p.Cys519Arg) c.1540T>C (p.Cys514Arg) c.1045T>C (p.Cys349Arg) c.856T>C (p.Cys286Arg) | gnomAD v4 |
| 10 | g.86718124T>G | CA377452720 | LDB3 | n.515-603T>G c.1648T>G (p.Cys550Gly) c.1696T>G (p.Cys566Gly) c.1837T>G (p.Cys613Gly) c.1507T>G (p.Cys503Gly) c.1852T>G (p.Cys618Gly) c.2089T>G (p.Cys697Gly) c.2041T>G (p.Cys681Gly) c.1900T>G (p.Cys634Gly) c.1885T>G (p.Cys629Gly) c.1744T>G (p.Cys582Gly) c.1555T>G (p.Cys519Gly) c.1540T>G (p.Cys514Gly) c.1045T>G (p.Cys349Gly) c.856T>G (p.Cys286Gly) | gnomAD v4 |