Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.92718819G>A | CA374035489 | BICD2 | c.1826C>T (p.Pro609Leu) c.1907C>T (p.Pro636Leu) | |
9 | g.92718819G>C | CA374035492 | BICD2 | c.1826C>G (p.Pro609Arg) c.1907C>G (p.Pro636Arg) | |
9 | g.92718819G>T | CA374035499 | BICD2 | c.1826C>A (p.Pro609His) c.1907C>A (p.Pro636His) | gnomAD v4 |
9 | g.92718820G>A | CA374035501 | BICD2 | c.1825C>T (p.Pro609Ser) c.1906C>T (p.Pro636Ser) | |
9 | g.92718820G>C | CA374035504 | BICD2 | c.1825C>G (p.Pro609Ala) c.1906C>G (p.Pro636Ala) | |
9 | g.92718820G>T | CA374035512 | BICD2 | c.1825C>A (p.Pro609Thr) c.1906C>A (p.Pro636Thr) | |
9 | g.92718821C>A | CA466343004 | BICD2 | c.1824G>T (p.Ser608=) c.1905G>T (p.Ser635=) | gnomAD v4 |
9 | g.92718821C= | CA1864360931 | BICD2 | c.1824G= (p.Ser608=) c.1905G= (p.Ser635=) | |
9 | g.92718821C>G | CA196340036 | BICD2 | c.1824G>C (p.Ser608=) c.1905G>C (p.Ser635=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718821C>T | CA5126471 | BICD2 | c.1824G>A (p.Ser608=) c.1905G>A (p.Ser635=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718822G>A | CA5126472 | BICD2 | c.1823C>T (p.Ser608Leu) c.1904C>T (p.Ser635Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.92718822G>C | CA374035540 | BICD2 | c.1823C>G (p.Ser608Trp) c.1904C>G (p.Ser635Trp) | |
9 | g.92718822G= | CA1864360941 | BICD2 | c.1823C= (p.Ser608=) c.1904C= (p.Ser635=) | |
9 | g.92718822G>T | CA374035544 | BICD2 | c.1823C>A (p.Ser608Ter) c.1904C>A (p.Ser635Ter) | |
9 | g.92718823A>C | CA374035547 | BICD2 | c.1822T>G (p.Ser608Ala) c.1903T>G (p.Ser635Ala) | |
9 | g.92718823A>G | CA374035559 | BICD2 | c.1822T>C (p.Ser608Pro) c.1903T>C (p.Ser635Pro) | |
9 | g.92718823A>T | CA374035562 | BICD2 | c.1822T>A (p.Ser608Thr) c.1903T>A (p.Ser635Thr) | |
9 | g.92718824G>A | CA466343009 | BICD2 | c.1821C>T (p.Pro607=) c.1902C>T (p.Pro634=) | gnomAD v4 |
9 | g.92718824G>C | CA466343010 | BICD2 | c.1821C>G (p.Pro607=) c.1902C>G (p.Pro634=) | gnomAD v4 |
9 | g.92718824G>T | CA466343011 | BICD2 | c.1821C>A (p.Pro607=) c.1902C>A (p.Pro634=) | |
9 | g.92718825G>A | CA374035573 | BICD2 | c.1820C>T (p.Pro607Leu) c.1901C>T (p.Pro634Leu) | |
9 | g.92718825G>C | CA374035571 | BICD2 | c.1820C>G (p.Pro607Arg) c.1901C>G (p.Pro634Arg) | gnomAD v4 |
9 | g.92718825G>T | CA374035568 | BICD2 | c.1820C>A (p.Pro607His) c.1901C>A (p.Pro634His) | |
9 | g.92718826G>A | CA374035576 | BICD2 | c.1819C>T (p.Pro607Ser) c.1900C>T (p.Pro634Ser) | gnomAD v4 |
9 | g.92718826G>C | CA374035577 | BICD2 | c.1819C>G (p.Pro607Ala) c.1900C>G (p.Pro634Ala) | dbSNP gnomAD v4 |
9 | g.92718826G= | CA1864360950 | BICD2 | c.1819C= (p.Pro607=) c.1900C= (p.Pro634=) | |
9 | g.92718826G>T | CA374035578 | BICD2 | c.1819C>A (p.Pro607Thr) c.1900C>A (p.Pro634Thr) | |
9 | g.92718827G>A | CA466343014 | BICD2 | c.1818C>T (p.Ser606=) c.1899C>T (p.Ser633=) | |
9 | g.92718827G>C | CA374035579 | BICD2 | c.1818C>G (p.Ser606Arg) c.1899C>G (p.Ser633Arg) | |
9 | g.92718827G>T | CA374035581 | BICD2 | c.1818C>A (p.Ser606Arg) c.1899C>A (p.Ser633Arg) | gnomAD v4 |
9 | g.92718828C>A | CA374035584 | BICD2 | c.1817G>T (p.Ser606Ile) c.1898G>T (p.Ser633Ile) | |
9 | g.92718828C= | CA1864360954 | BICD2 | c.1817G= (p.Ser606=) c.1898G= (p.Ser633=) | |
9 | g.92718828C>G | CA374035587 | BICD2 | c.1817G>C (p.Ser606Thr) c.1898G>C (p.Ser633Thr) | |
9 | g.92718828C>T | CA196340065 | BICD2 | c.1817G>A (p.Ser606Asn) c.1898G>A (p.Ser633Asn) | ClinVar dbSNP gnomAD v4 |
9 | g.92718829T>A | CA374035594 | BICD2 | c.1816A>T (p.Ser606Cys) c.1897A>T (p.Ser633Cys) | |
9 | g.92718829T>C | CA374035595 | BICD2 | c.1816A>G (p.Ser606Gly) c.1897A>G (p.Ser633Gly) | |
9 | g.92718829T>G | CA374035596 | BICD2 | c.1816A>C (p.Ser606Arg) c.1897A>C (p.Ser633Arg) | |
9 | g.92718830G>A | CA466343016 | BICD2 | c.1815C>T (p.Ser605=) c.1896C>T (p.Ser632=) | gnomAD v4 |
9 | g.92718830G>C | CA374035597 | BICD2 | c.1815C>G (p.Ser605Arg) c.1896C>G (p.Ser632Arg) | |
9 | g.92718830G>T | CA374035600 | BICD2 | c.1815C>A (p.Ser605Arg) c.1896C>A (p.Ser632Arg) | |
9 | g.92718831C>A | CA374035612 | BICD2 | c.1814G>T (p.Ser605Ile) c.1895G>T (p.Ser632Ile) | |
9 | g.92718831C>G | CA374035613 | BICD2 | c.1814G>C (p.Ser605Thr) c.1895G>C (p.Ser632Thr) | |
9 | g.92718831C>T | CA374035608 | BICD2 | c.1814G>A (p.Ser605Asn) c.1895G>A (p.Ser632Asn) | |
9 | g.92718832T>A | CA374035614 | BICD2 | c.1813A>T (p.Ser605Cys) c.1894A>T (p.Ser632Cys) | |
9 | g.92718832T>C | CA5126474 | BICD2 | c.1813A>G (p.Ser605Gly) c.1894A>G (p.Ser632Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
9 | g.92718832T>G | CA374035615 | BICD2 | c.1813A>C (p.Ser605Arg) c.1894A>C (p.Ser632Arg) | |
9 | g.92718832T= | CA1864360958 | BICD2 | c.1813A= (p.Ser605=) c.1894A= (p.Ser632=) | |
9 | g.92718832_92718838delinsTGTCCCC | CA1864360960 | BICD2 | c.1807_1813delinsGGGGACA (p.Gly603=) c.1888_1894delinsGGGGACA (p.Gly630=) | |
9 | g.92718833G>A | CA466342894 | BICD2 | c.1812C>T (p.Asp604=) c.1893C>T (p.Asp631=) | gnomAD v4 |
9 | g.92718833G>C | CA374035618 | BICD2 | c.1812C>G (p.Asp604Glu) c.1893C>G (p.Asp631Glu) | gnomAD v4 |