UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.92718811A>C | CA374035442 | BICD2 | c.1834T>G (p.Ser612Ala) c.1915T>G (p.Ser639Ala) | |
| 9 | g.92718811A>G | CA374035443 | BICD2 | c.1834T>C (p.Ser612Pro) c.1915T>C (p.Ser639Pro) | |
| 9 | g.92718811A>T | CA374035444 | BICD2 | c.1834T>A (p.Ser612Thr) c.1915T>A (p.Ser639Thr) | |
| 9 | g.92718812G>A | CA466342985 | BICD2 | c.1833C>T (p.Ser611=) c.1914C>T (p.Ser638=) | dbSNP gnomAD v2 |
| 9 | g.92718812G>C | CA466342987 | BICD2 | c.1833C>G (p.Ser611=) c.1914C>G (p.Ser638=) | |
| 9 | g.92718812G= | CA1864360922 | BICD2 | c.1833C= (p.Ser611=) c.1914C= (p.Ser638=) | |
| 9 | g.92718812G>T | CA466342988 | BICD2 | c.1833C>A (p.Ser611=) c.1914C>A (p.Ser638=) | |
| 9 | g.92718813G>A | CA374035445 | BICD2 | c.1832C>T (p.Ser611Phe) c.1913C>T (p.Ser638Phe) | |
| 9 | g.92718813G>C | CA374035448 | BICD2 | c.1832C>G (p.Ser611Cys) c.1913C>G (p.Ser638Cys) | |
| 9 | g.92718813G>T | CA374035451 | BICD2 | c.1832C>A (p.Ser611Tyr) c.1913C>A (p.Ser638Tyr) | COSMIC COSMIC |
| 9 | g.92718814A= | CA1864360927 | BICD2 | c.1831T= (p.Ser611=) c.1912T= (p.Ser638=) | |
| 9 | g.92718814A>C | CA374035455 | BICD2 | c.1831T>G (p.Ser611Ala) c.1912T>G (p.Ser638Ala) | |
| 9 | g.92718814A>G | CA5126470 | BICD2 | c.1831T>C (p.Ser611Pro) c.1912T>C (p.Ser638Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718814A>T | CA374035460 | BICD2 | c.1831T>A (p.Ser611Thr) c.1912T>A (p.Ser638Thr) | |
| 9 | g.92718815G>A | CA466342991 | BICD2 | c.1830C>T (p.Gly610=) c.1911C>T (p.Gly637=) | |
| 9 | g.92718815G>C | CA466342993 | BICD2 | c.1830C>G (p.Gly610=) c.1911C>G (p.Gly637=) | |
| 9 | g.92718815G>T | CA466342992 | BICD2 | c.1830C>A (p.Gly610=) c.1911C>A (p.Gly637=) | |
| 9 | g.92718816C>A | CA374035464 | BICD2 | c.1829G>T (p.Gly610Val) c.1910G>T (p.Gly637Val) | |
| 9 | g.92718816C>G | CA374035466 | BICD2 | c.1829G>C (p.Gly610Ala) c.1910G>C (p.Gly637Ala) | |
| 9 | g.92718816C>T | CA374035470 | BICD2 | c.1829G>A (p.Gly610Asp) c.1910G>A (p.Gly637Asp) | |
| 9 | g.92718817C>A | CA374035477 | BICD2 | c.1828G>T (p.Gly610Cys) c.1909G>T (p.Gly637Cys) | |
| 9 | g.92718817C>G | CA374035488 | BICD2 | c.1828G>C (p.Gly610Arg) c.1909G>C (p.Gly637Arg) | |
| 9 | g.92718817C>T | CA374035480 | BICD2 | c.1828G>A (p.Gly610Ser) c.1909G>A (p.Gly637Ser) | |
| 9 | g.92718818A>C | CA466343001 | BICD2 | c.1827T>G (p.Pro609=) c.1908T>G (p.Pro636=) | |
| 9 | g.92718818A>G | CA466343002 | BICD2 | c.1827T>C (p.Pro609=) c.1908T>C (p.Pro636=) | |
| 9 | g.92718818A>T | CA466343003 | BICD2 | c.1827T>A (p.Pro609=) c.1908T>A (p.Pro636=) | |
| 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 |
| 9 | g.92718833G>T | CA374035620 | BICD2 | c.1812C>A (p.Asp604Glu) c.1893C>A (p.Asp631Glu) | |
| 9 | g.92718833_92718838del | CA5126473 | BICD2 | c.1807_1812del (p.Gly603_Asp604del) c.1888_1893del (p.Gly630_Asp631del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718834T>A | CA374035628 | BICD2 | c.1811A>T (p.Asp604Val) c.1892A>T (p.Asp631Val) | |
| 9 | g.92718834T>C | CA374035630 | BICD2 | c.1811A>G (p.Asp604Gly) c.1892A>G (p.Asp631Gly) | COSMIC COSMIC |
| 9 | g.92718834T>G | CA374035633 | BICD2 | c.1811A>C (p.Asp604Ala) c.1892A>C (p.Asp631Ala) | |
| 9 | g.92718835C>A | CA374035637 | BICD2 | c.1810G>T (p.Asp604Tyr) c.1891G>T (p.Asp631Tyr) | |
| 9 | g.92718835C>G | CA374035640 | BICD2 | c.1810G>C (p.Asp604His) c.1891G>C (p.Asp631His) | |
| 9 | g.92718835C>T | CA374035645 | BICD2 | c.1810G>A (p.Asp604Asn) c.1891G>A (p.Asp631Asn) | gnomAD v4 |
| 9 | g.92718836C>A | CA466342896 | BICD2 | c.1809G>T (p.Gly603=) c.1890G>T (p.Gly630=) | |
| 9 | g.92718836C= | CA1864360966 | BICD2 | c.1809G= (p.Gly603=) c.1890G= (p.Gly630=) | |
| 9 | g.92718836C>G | CA466342897 | BICD2 | c.1809G>C (p.Gly603=) c.1890G>C (p.Gly630=) | |
| 9 | g.92718836C>T | CA466342898 | BICD2 | c.1809G>A (p.Gly603=) c.1890G>A (p.Gly630=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718837C>A | CA374035654 | BICD2 | c.1808G>T (p.Gly603Val) c.1889G>T (p.Gly630Val) | |
| 9 | g.92718837C>G | CA374035649 | BICD2 | c.1808G>C (p.Gly603Ala) c.1889G>C (p.Gly630Ala) | |
| 9 | g.92718837C>T | CA374035652 | BICD2 | c.1808G>A (p.Gly603Glu) c.1889G>A (p.Gly630Glu) | gnomAD v4 |
| 9 | g.92718838C>A | CA374035658 | BICD2 | c.1807G>T (p.Gly603Trp) c.1888G>T (p.Gly630Trp) | |
| 9 | g.92718838C>G | CA374035660 | BICD2 | c.1807G>C (p.Gly603Arg) c.1888G>C (p.Gly630Arg) | |
| 9 | g.92718838C>T | CA374035668 | BICD2 | c.1807G>A (p.Gly603Arg) c.1888G>A (p.Gly630Arg) | COSMIC COSMIC |
| 9 | g.92718839C>A | CA466342902 | BICD2 | c.1806G>T (p.Thr602=) c.1887G>T (p.Thr629=) | |
| 9 | g.92718839C= | CA1864360971 | BICD2 | c.1806G= (p.Thr602=) c.1887G= (p.Thr629=) | |
| 9 | g.92718839C>G | CA466342903 | BICD2 | c.1806G>C (p.Thr602=) c.1887G>C (p.Thr629=) | |
| 9 | g.92718839C>T | CA5126475 | BICD2 | c.1806G>A (p.Thr602=) c.1887G>A (p.Thr629=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718840G>A | CA196340082 | BICD2 | c.1805C>T (p.Thr602Met) c.1886C>T (p.Thr629Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718840G>C | CA374035681 | BICD2 | c.1805C>G (p.Thr602Arg) c.1886C>G (p.Thr629Arg) | |
| 9 | g.92718840G= | CA1864360978 | BICD2 | c.1805C= (p.Thr602=) c.1886C= (p.Thr629=) | |
| 9 | g.92718840G>T | CA374035684 | BICD2 | c.1805C>A (p.Thr602Lys) c.1886C>A (p.Thr629Lys) | |
| 9 | g.92718840_92718841delinsGT | CA1864360979 | BICD2 | c.1804_1805delinsAC (p.Thr602=) c.1885_1886delinsAC (p.Thr629=) | |
| 9 | g.92718841del | CA5126476 | BICD2 | c.1804del (p.Thr602ArgfsTer16) c.1885del (p.Thr629ArgfsTer16) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718841T>A | CA374035685 | BICD2 | c.1804A>T (p.Thr602Ser) c.1885A>T (p.Thr629Ser) | |
| 9 | g.92718841T>C | CA196340115 | BICD2 | c.1804A>G (p.Thr602Ala) c.1885A>G (p.Thr629Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718841T>G | CA374035686 | BICD2 | c.1804A>C (p.Thr602Pro) c.1885A>C (p.Thr629Pro) | |
| 9 | g.92718841T= | CA1864360986 | BICD2 | c.1804A= (p.Thr602=) c.1885A= (p.Thr629=) | |
| 9 | g.92718842C>A | CA466342906 | BICD2 | c.1803G>T (p.Gly601=) c.1884G>T (p.Gly628=) | |
| 9 | g.92718842C= | CA1864360990 | BICD2 | c.1803G= (p.Gly601=) c.1884G= (p.Gly628=) | |
| 9 | g.92718842C>G | CA466342907 | BICD2 | c.1803G>C (p.Gly601=) c.1884G>C (p.Gly628=) | |
| 9 | g.92718842C>T | CA5126477 | BICD2 | c.1803G>A (p.Gly601=) c.1884G>A (p.Gly628=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718843C>A | CA374035692 | BICD2 | c.1802G>T (p.Gly601Val) c.1883G>T (p.Gly628Val) | |
| 9 | g.92718843C= | CA1864360996 | BICD2 | c.1802G= (p.Gly601=) c.1883G= (p.Gly628=) | |
| 9 | g.92718843C>G | CA374035689 | BICD2 | c.1802G>C (p.Gly601Ala) c.1883G>C (p.Gly628Ala) | |
| 9 | g.92718843C>T | CA5126479 | BICD2 | c.1802G>A (p.Gly601Glu) c.1883G>A (p.Gly628Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718843_92718845delinsCCA | CA1864360998 | BICD2 | c.1800_1802delinsTGG (p.Gly600=) c.1881_1883delinsTGG (p.Gly627=) | |
| 9 | g.92718844C>A | CA374035693 | BICD2 | c.1801G>T (p.Gly601Trp) c.1882G>T (p.Gly628Trp) | ClinVar dbSNP |
| 9 | g.92718844C>G | CA374035697 | BICD2 | c.1801G>C (p.Gly601Arg) c.1882G>C (p.Gly628Arg) | |
| 9 | g.92718844C>T | CA374035710 | BICD2 | c.1801G>A (p.Gly601Arg) c.1882G>A (p.Gly628Arg) | |
| 9 | g.92718845_92718846del | CA5126478 | BICD2 | c.1800_1801del (p.Gly601AspfsTer18) c.1881_1882del (p.Gly628AspfsTer18) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718845A= | CA1864361003 | BICD2 | c.1800T= (p.Gly600=) c.1881T= (p.Gly627=) | |
| 9 | g.92718845A>C | CA196340124 | BICD2 | c.1800T>G (p.Gly600=) c.1881T>G (p.Gly627=) | dbSNP gnomAD v4 |
| 9 | g.92718845A>G | CA466342911 | BICD2 | c.1800T>C (p.Gly600=) c.1881T>C (p.Gly627=) | dbSNP |
| 9 | g.92718845A>T | CA466342912 | BICD2 | c.1800T>A (p.Gly600=) c.1881T>A (p.Gly627=) | |
| 9 | g.92718846C>A | CA374035715 | BICD2 | c.1799G>T (p.Gly600Val) c.1880G>T (p.Gly627Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718846C= | CA1864361006 | BICD2 | c.1799G= (p.Gly600=) c.1880G= (p.Gly627=) | |
| 9 | g.92718846C>G | CA374035716 | BICD2 | c.1799G>C (p.Gly600Ala) c.1880G>C (p.Gly627Ala) | |
| 9 | g.92718846C>T | CA5126480 | BICD2 | c.1799G>A (p.Gly600Asp) c.1880G>A (p.Gly627Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718847C>A | CA374035722 | BICD2 | c.1798G>T (p.Gly600Cys) c.1879G>T (p.Gly627Cys) | ClinVar gnomAD v4 |
| 9 | g.92718847C>G | CA374035717 | BICD2 | c.1798G>C (p.Gly600Arg) c.1879G>C (p.Gly627Arg) | |
| 9 | g.92718847C>T | CA374035718 | BICD2 | c.1798G>A (p.Gly600Ser) c.1879G>A (p.Gly627Ser) | |
| 9 | g.92718848A= | CA1864361009 | BICD2 | c.1797T= (p.Asp599=) c.1878T= (p.Asp626=) | |
| 9 | g.92718848A>C | CA374035733 | BICD2 | c.1797T>G (p.Asp599Glu) c.1878T>G (p.Asp626Glu) | |
| 9 | g.92718848A>G | CA466342913 | BICD2 | c.1797T>C (p.Asp599=) c.1878T>C (p.Asp626=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718848A>T | CA374035736 | BICD2 | c.1797T>A (p.Asp599Glu) c.1878T>A (p.Asp626Glu) | |
| 9 | g.92718849T>A | CA374035737 | BICD2 | c.1796A>T (p.Asp599Val) c.1877A>T (p.Asp626Val) | dbSNP |
| 9 | g.92718849T>C | CA374035738 | BICD2 | c.1796A>G (p.Asp599Gly) c.1877A>G (p.Asp626Gly) | |
| 9 | g.92718849T>G | CA374035740 | BICD2 | c.1796A>C (p.Asp599Ala) c.1877A>C (p.Asp626Ala) | |
| 9 | g.92718849T= | CA1864361012 | BICD2 | c.1796A= (p.Asp599=) c.1877A= (p.Asp626=) | |
| 9 | g.92718850C>A | CA374035741 | BICD2 | c.1795G>T (p.Asp599Tyr) c.1876G>T (p.Asp626Tyr) | gnomAD v4 |
| 9 | g.92718850C>G | CA374035743 | BICD2 | c.1795G>C (p.Asp599His) c.1876G>C (p.Asp626His) | |
| 9 | g.92718850C>T | CA374035742 | BICD2 | c.1795G>A (p.Asp599Asn) c.1876G>A (p.Asp626Asn) | gnomAD v4 |
| 9 | g.92718851T>A | CA466342914 | BICD2 | c.1794A>T (p.Ala598=) c.1875A>T (p.Ala625=) | |
| 9 | g.92718851T>C | CA466342915 | BICD2 | c.1794A>G (p.Ala598=) c.1875A>G (p.Ala625=) | |
| 9 | g.92718851T>G | CA466342916 | BICD2 | c.1794A>C (p.Ala598=) c.1875A>C (p.Ala625=) | |
| 9 | g.92718852G>A | CA374035745 | BICD2 | c.1793C>T (p.Ala598Val) c.1874C>T (p.Ala625Val) | |
| 9 | g.92718852G>C | CA5126481 | BICD2 | c.1793C>G (p.Ala598Gly) c.1874C>G (p.Ala625Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718852G= | CA1864361014 | BICD2 | c.1793C= (p.Ala598=) c.1874C= (p.Ala625=) | |
| 9 | g.92718852G>T | CA374035764 | BICD2 | c.1793C>A (p.Ala598Glu) c.1874C>A (p.Ala625Glu) | |
| 9 | g.92718853C>A | CA374035771 | BICD2 | c.1792G>T (p.Ala598Ser) c.1873G>T (p.Ala625Ser) | |
| 9 | g.92718853C>G | CA374035772 | BICD2 | c.1792G>C (p.Ala598Pro) c.1873G>C (p.Ala625Pro) | |
| 9 | g.92718853C>T | CA374035773 | BICD2 | c.1792G>A (p.Ala598Thr) c.1873G>A (p.Ala625Thr) | gnomAD v4 |
| 9 | g.92718854T>A | CA466342917 | BICD2 | c.1791A>T (p.Arg597=) c.1872A>T (p.Arg624=) | |
| 9 | g.92718854T>C | CA466342918 | BICD2 | c.1791A>G (p.Arg597=) c.1872A>G (p.Arg624=) | |
| 9 | g.92718854T>G | CA466342919 | BICD2 | c.1791A>C (p.Arg597=) c.1872A>C (p.Arg624=) | |
| 9 | g.92718855C>A | CA374035774 | BICD2 | c.1790G>T (p.Arg597Leu) c.1871G>T (p.Arg624Leu) | |
| 9 | g.92718855C= | CA1864361024 | BICD2 | c.1790G= (p.Arg597=) c.1871G= (p.Arg624=) | |
| 9 | g.92718855C>G | CA374035775 | BICD2 | c.1790G>C (p.Arg597Pro) c.1871G>C (p.Arg624Pro) | |
| 9 | g.92718855C>T | CA374035776 | BICD2 | c.1790G>A (p.Arg597Gln) c.1871G>A (p.Arg624Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718856G>A | CA5126482 | BICD2 | c.1789C>T (p.Arg597Ter) c.1870C>T (p.Arg624Ter) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718856G>C | CA374035784 | BICD2 | c.1789C>G (p.Arg597Gly) c.1870C>G (p.Arg624Gly) | |
| 9 | g.92718856G= | CA1864361027 | BICD2 | c.1789C= (p.Arg597=) c.1870C= (p.Arg624=) | |
| 9 | g.92718856G>T | CA466342923 | BICD2 | c.1789C>A (p.Arg597=) c.1870C>A (p.Arg624=) | |
| 9 | g.92718857G>A | CA466342924 | BICD2 | c.1788C>T (p.Gly596=) c.1869C>T (p.Gly623=) | |
| 9 | g.92718857G>C | CA466342925 | BICD2 | c.1788C>G (p.Gly596=) c.1869C>G (p.Gly623=) | |
| 9 | g.92718857G>T | CA466342926 | BICD2 | c.1788C>A (p.Gly596=) c.1869C>A (p.Gly623=) | |
| 9 | g.92718858C>A | CA374035788 | BICD2 | c.1787G>T (p.Gly596Val) c.1868G>T (p.Gly623Val) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718858C= | CA1864361032 | BICD2 | c.1787G= (p.Gly596=) c.1868G= (p.Gly623=) | |
| 9 | g.92718858C>G | CA374035794 | BICD2 | c.1787G>C (p.Gly596Ala) c.1868G>C (p.Gly623Ala) | |
| 9 | g.92718858C>T | CA374035791 | BICD2 | c.1787G>A (p.Gly596Asp) c.1868G>A (p.Gly623Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718859C>A | CA374035804 | BICD2 | c.1786G>T (p.Gly596Cys) c.1867G>T (p.Gly623Cys) | |
| 9 | g.92718859C>G | CA374035805 | BICD2 | c.1786G>C (p.Gly596Arg) c.1867G>C (p.Gly623Arg) | |
| 9 | g.92718859C>T | CA374035807 | BICD2 | c.1786G>A (p.Gly596Ser) c.1867G>A (p.Gly623Ser) | |
| 9 | g.92718860C>A | CA466342929 | BICD2 | c.1785G>T (p.Ala595=) c.1866G>T (p.Ala622=) | |
| 9 | g.92718860C= | CA1864361037 | BICD2 | c.1785G= (p.Ala595=) c.1866G= (p.Ala622=) | |
| 9 | g.92718860C>G | CA466342928 | BICD2 | c.1785G>C (p.Ala595=) c.1866G>C (p.Ala622=) | |
| 9 | g.92718860C>T | CA5126483 | BICD2 | c.1785G>A (p.Ala595=) c.1866G>A (p.Ala622=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718861G>A | CA374035815 | BICD2 | c.1784C>T (p.Ala595Val) c.1865C>T (p.Ala622Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718861G>C | CA374035833 | BICD2 | c.1784C>G (p.Ala595Gly) c.1865C>G (p.Ala622Gly) | |
| 9 | g.92718861G= | CA1864361040 | BICD2 | c.1784C= (p.Ala595=) c.1865C= (p.Ala622=) | |
| 9 | g.92718861G>T | CA374035841 | BICD2 | c.1784C>A (p.Ala595Glu) c.1865C>A (p.Ala622Glu) | gnomAD v4 |
| 9 | g.92718862C>A | CA374035846 | BICD2 | c.1783G>T (p.Ala595Ser) c.1864G>T (p.Ala622Ser) | |
| 9 | g.92718862C>G | CA374035850 | BICD2 | c.1783G>C (p.Ala595Pro) c.1864G>C (p.Ala622Pro) | |
| 9 | g.92718862C>T | CA374035853 | BICD2 | c.1783G>A (p.Ala595Thr) c.1864G>A (p.Ala622Thr) | gnomAD v4 |
| 9 | g.92718863C>A | CA374035857 | BICD2 | c.1782G>T (p.Glu594Asp) c.1863G>T (p.Glu621Asp) | |
| 9 | g.92718863C= | CA1864361045 | BICD2 | c.1782G= (p.Glu594=) c.1863G= (p.Glu621=) | |
| 9 | g.92718863C>G | CA374035859 | BICD2 | c.1782G>C (p.Glu594Asp) c.1863G>C (p.Glu621Asp) | |
| 9 | g.92718863C>T | CA466342933 | BICD2 | c.1782G>A (p.Glu594=) c.1863G>A (p.Glu621=) | dbSNP gnomAD v2 |
| 9 | g.92718864T>A | CA374035868 | BICD2 | c.1781A>T (p.Glu594Val) c.1862A>T (p.Glu621Val) | |
| 9 | g.92718864T>C | CA374035863 | BICD2 | c.1781A>G (p.Glu594Gly) c.1862A>G (p.Glu621Gly) | |
| 9 | g.92718864T>G | CA374035866 | BICD2 | c.1781A>C (p.Glu594Ala) c.1862A>C (p.Glu621Ala) | |
| 9 | g.92718865C>A | CA374035870 | BICD2 | c.1780G>T (p.Glu594Ter) c.1861G>T (p.Glu621Ter) | |
| 9 | g.92718865C>G | CA374035871 | BICD2 | c.1780G>C (p.Glu594Gln) c.1861G>C (p.Glu621Gln) | |
| 9 | g.92718865C>T | CA374035872 | BICD2 | c.1780G>A (p.Glu594Lys) c.1861G>A (p.Glu621Lys) | |
| 9 | g.92718866A>C | CA466342938 | BICD2 | c.1779T>G (p.Pro593=) c.1860T>G (p.Pro620=) | |
| 9 | g.92718866A>G | CA466342939 | BICD2 | c.1779T>C (p.Pro593=) c.1860T>C (p.Pro620=) | gnomAD v4 |
| 9 | g.92718866A>T | CA466342940 | BICD2 | c.1779T>A (p.Pro593=) c.1860T>A (p.Pro620=) | gnomAD v4 |
| 9 | g.92718867G>A | CA374035873 | BICD2 | c.1778C>T (p.Pro593Leu) c.1859C>T (p.Pro620Leu) | |
| 9 | g.92718867G>C | CA374035876 | BICD2 | c.1778C>G (p.Pro593Arg) c.1859C>G (p.Pro620Arg) | |
| 9 | g.92718867G>T | CA374035880 | BICD2 | c.1778C>A (p.Pro593His) c.1859C>A (p.Pro620His) | |
| 9 | g.92718868G>A | CA374035884 | BICD2 | c.1777C>T (p.Pro593Ser) c.1858C>T (p.Pro620Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718868G>C | CA374035887 | BICD2 | c.1777C>G (p.Pro593Ala) c.1858C>G (p.Pro620Ala) | |
| 9 | g.92718868G= | CA1864361051 | BICD2 | c.1777C= (p.Pro593=) c.1858C= (p.Pro620=) | |
| 9 | g.92718868G>T | CA374035903 | BICD2 | c.1777C>A (p.Pro593Thr) c.1858C>A (p.Pro620Thr) | |
| 9 | g.92718869A>C | CA466342944 | BICD2 | c.1776T>G (p.Ala592=) c.1857T>G (p.Ala619=) | |
| 9 | g.92718869A>G | CA466342945 | BICD2 | c.1776T>C (p.Ala592=) c.1857T>C (p.Ala619=) | |
| 9 | g.92718869A>T | CA466342946 | BICD2 | c.1776T>A (p.Ala592=) c.1857T>A (p.Ala619=) | |
| 9 | g.92718870G>A | CA374035910 | BICD2 | c.1775C>T (p.Ala592Val) c.1856C>T (p.Ala619Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718870G>C | CA374035914 | BICD2 | c.1775C>G (p.Ala592Gly) c.1856C>G (p.Ala619Gly) | |
| 9 | g.92718870G= | CA1864361055 | BICD2 | c.1775C= (p.Ala592=) c.1856C= (p.Ala619=) | |
| 9 | g.92718870G>T | CA374035916 | BICD2 | c.1775C>A (p.Ala592Asp) c.1856C>A (p.Ala619Asp) | |
| 9 | g.92718871C>A | CA374035931 | BICD2 | c.1774G>T (p.Ala592Ser) c.1855G>T (p.Ala619Ser) | |
| 9 | g.92718871C= | CA1864361059 | BICD2 | c.1774G= (p.Ala592=) c.1855G= (p.Ala619=) | |
| 9 | g.92718871C>G | CA374035927 | BICD2 | c.1774G>C (p.Ala592Pro) c.1855G>C (p.Ala619Pro) | dbSNP gnomAD v4 |
| 9 | g.92718871C>T | CA374035921 | BICD2 | c.1774G>A (p.Ala592Thr) c.1855G>A (p.Ala619Thr) | |
| 9 | g.92718872C>A | CA466342948 | BICD2 | c.1773G>T (p.Leu591=) c.1854G>T (p.Leu618=) | |
| 9 | g.92718872C>G | CA466342949 | BICD2 | c.1773G>C (p.Leu591=) c.1854G>C (p.Leu618=) | |
| 9 | g.92718872C>T | CA466342950 | BICD2 | c.1773G>A (p.Leu591=) c.1854G>A (p.Leu618=) | |
| 9 | g.92718873A>C | CA374035935 | BICD2 | c.1772T>G (p.Leu591Arg) c.1853T>G (p.Leu618Arg) | |
| 9 | g.92718873A>G | CA374035933 | BICD2 | c.1772T>C (p.Leu591Pro) c.1853T>C (p.Leu618Pro) | |
| 9 | g.92718873A>T | CA374035937 | BICD2 | c.1772T>A (p.Leu591Gln) c.1853T>A (p.Leu618Gln) | |
| 9 | g.92718874G>A | CA466342951 | BICD2 | c.1771C>T (p.Leu591=) c.1852C>T (p.Leu618=) | dbSNP gnomAD v2 |
| 9 | g.92718874G>C | CA374035940 | BICD2 | c.1771C>G (p.Leu591Val) c.1852C>G (p.Leu618Val) | gnomAD v4 |
| 9 | g.92718874G= | CA1864361061 | BICD2 | c.1771C= (p.Leu591=) c.1852C= (p.Leu618=) | |
| 9 | g.92718874G>T | CA374035942 | BICD2 | c.1771C>A (p.Leu591Met) c.1852C>A (p.Leu618Met) | |
| 9 | g.92718875C>A | CA466342955 | BICD2 | c.1770G>T (p.Leu590=) c.1851G>T (p.Leu617=) | |
| 9 | g.92718875C= | CA1864361065 | BICD2 | c.1770G= (p.Leu590=) c.1851G= (p.Leu617=) | |
| 9 | g.92718875C>G | CA466342956 | BICD2 | c.1770G>C (p.Leu590=) c.1851G>C (p.Leu617=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718875C>T | CA466342957 | BICD2 | c.1770G>A (p.Leu590=) c.1851G>A (p.Leu617=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718876A>C | CA374035953 | BICD2 | c.1769T>G (p.Leu590Arg) c.1850T>G (p.Leu617Arg) | |
| 9 | g.92718876A>G | CA374035955 | BICD2 | c.1769T>C (p.Leu590Pro) c.1850T>C (p.Leu617Pro) | |
| 9 | g.92718876A>T | CA374035957 | BICD2 | c.1769T>A (p.Leu590Gln) c.1850T>A (p.Leu617Gln) | |
| 9 | g.92718877G>A | CA466342960 | BICD2 | c.1768C>T (p.Leu590=) c.1849C>T (p.Leu617=) | |
| 9 | g.92718877G>C | CA374035964 | BICD2 | c.1768C>G (p.Leu590Val) c.1849C>G (p.Leu617Val) | |
| 9 | g.92718877G>T | CA374035967 | BICD2 | c.1768C>A (p.Leu590Met) c.1849C>A (p.Leu617Met) | gnomAD v4 |
| 9 | g.92718878C>A | CA466342962 | BICD2 | c.1767G>T (p.Gly589=) c.1848G>T (p.Gly616=) | |
| 9 | g.92718878C= | CA1864361069 | BICD2 | c.1767G= (p.Gly589=) c.1848G= (p.Gly616=) | |
| 9 | g.92718878C>G | CA466342963 | BICD2 | c.1767G>C (p.Gly589=) c.1848G>C (p.Gly616=) | |
| 9 | g.92718878C>T | CA466342964 | BICD2 | c.1767G>A (p.Gly589=) c.1848G>A (p.Gly616=) | dbSNP gnomAD v4 |
| 9 | g.92718879C>A | CA374035970 | BICD2 | c.1766G>T (p.Gly589Val) c.1847G>T (p.Gly616Val) | dbSNP gnomAD v2 |
| 9 | g.92718879C= | CA1864361072 | BICD2 | c.1766G= (p.Gly589=) c.1847G= (p.Gly616=) | |
| 9 | g.92718879C>G | CA374035972 | BICD2 | c.1766G>C (p.Gly589Ala) c.1847G>C (p.Gly616Ala) | |
| 9 | g.92718879C>T | CA374035974 | BICD2 | c.1766G>A (p.Gly589Glu) c.1847G>A (p.Gly616Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718880C>A | CA374035977 | BICD2 | c.1765G>T (p.Gly589Trp) c.1846G>T (p.Gly616Trp) | |
| 9 | g.92718880C= | CA1864361077 | BICD2 | c.1765G= (p.Gly589=) c.1846G= (p.Gly616=) | |
| 9 | g.92718880C>G | CA5126484 | BICD2 | c.1765G>C (p.Gly589Arg) c.1846G>C (p.Gly616Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718880C>T | CA374035989 | BICD2 | c.1765G>A (p.Gly589Arg) c.1846G>A (p.Gly616Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718881C>A | CA374035997 | BICD2 | c.1764G>T (p.Lys588Asn) c.1845G>T (p.Lys615Asn) | |
| 9 | g.92718881C= | CA1864361081 | BICD2 | c.1764G= (p.Lys588=) c.1845G= (p.Lys615=) | |
| 9 | g.92718881C>G | CA374035998 | BICD2 | c.1764G>C (p.Lys588Asn) c.1845G>C (p.Lys615Asn) | |
| 9 | g.92718881C>T | CA466342970 | BICD2 | c.1764G>A (p.Lys588=) c.1845G>A (p.Lys615=) | dbSNP gnomAD v2 |
| 9 | g.92718882T>A | CA374036003 | BICD2 | c.1763A>T (p.Lys588Met) c.1844A>T (p.Lys615Met) | |
| 9 | g.92718882T>C | CA374036005 | BICD2 | c.1763A>G (p.Lys588Arg) c.1844A>G (p.Lys615Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718882T>G | CA374036009 | BICD2 | c.1763A>C (p.Lys588Thr) c.1844A>C (p.Lys615Thr) | |
| 9 | g.92718882T= | CA1864361084 | BICD2 | c.1763A= (p.Lys588=) c.1844A= (p.Lys615=) | |
| 9 | g.92718883T>A | CA374036014 | BICD2 | c.1762A>T (p.Lys588Ter) c.1843A>T (p.Lys615Ter) | |
| 9 | g.92718883T>C | CA374036016 | BICD2 | c.1762A>G (p.Lys588Glu) c.1843A>G (p.Lys615Glu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718883T>G | CA374036017 | BICD2 | c.1762A>C (p.Lys588Gln) c.1843A>C (p.Lys615Gln) | |
| 9 | g.92718883T= | CA1864361090 | BICD2 | c.1762A= (p.Lys588=) c.1843A= (p.Lys615=) | |
| 9 | g.92718884G>A | CA466342977 | BICD2 | c.1761C>T (p.Pro587=) c.1842C>T (p.Pro614=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718884G>C | CA466342978 | BICD2 | c.1761C>G (p.Pro587=) c.1842C>G (p.Pro614=) | |
| 9 | g.92718884G= | CA1864361092 | BICD2 | c.1761C= (p.Pro587=) c.1842C= (p.Pro614=) | |
| 9 | g.92718884G>T | CA466342980 | BICD2 | c.1761C>A (p.Pro587=) c.1842C>A (p.Pro614=) | |
| 9 | g.92718885G>A | CA374036018 | BICD2 | c.1760C>T (p.Pro587Leu) c.1841C>T (p.Pro614Leu) | gnomAD v4 |
| 9 | g.92718885G>C | CA374036019 | BICD2 | c.1760C>G (p.Pro587Arg) c.1841C>G (p.Pro614Arg) | |
| 9 | g.92718885G>T | CA374036020 | BICD2 | c.1760C>A (p.Pro587His) c.1841C>A (p.Pro614His) | COSMIC |
| 9 | g.92718886G>A | CA374036022 | BICD2 | c.1759C>T (p.Pro587Ser) c.1840C>T (p.Pro614Ser) | |
| 9 | g.92718886G>C | CA374036024 | BICD2 | c.1759C>G (p.Pro587Ala) c.1840C>G (p.Pro614Ala) | |
| 9 | g.92718886G>T | CA374036031 | BICD2 | c.1759C>A (p.Pro587Thr) c.1840C>A (p.Pro614Thr) | |
| 9 | g.92718887T>A | CA466342986 | BICD2 | c.1758A>T (p.Leu586=) c.1839A>T (p.Leu613=) | |
| 9 | g.92718887T>C | CA5126485 | BICD2 | c.1758A>G (p.Leu586=) c.1839A>G (p.Leu613=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718887T>G | CA466342989 | BICD2 | c.1758A>C (p.Leu586=) c.1839A>C (p.Leu613=) | |
| 9 | g.92718887T= | CA1864361100 | BICD2 | c.1758A= (p.Leu586=) c.1839A= (p.Leu613=) | |
| 9 | g.92718887_92718890delinsTAGG | CA1864361103 | BICD2 | c.1755_1758delinsCCTA (p.Leu585=) c.1836_1839delinsCCTA (p.Leu612=) | |
| 9 | g.92718888A>C | CA374036050 | BICD2 | c.1757T>G (p.Leu586Arg) c.1838T>G (p.Leu613Arg) | |
| 9 | g.92718888A>G | CA374036054 | BICD2 | c.1757T>C (p.Leu586Pro) c.1838T>C (p.Leu613Pro) | |
| 9 | g.92718888A>T | CA374036052 | BICD2 | c.1757T>A (p.Leu586Gln) c.1838T>A (p.Leu613Gln) | |
| 9 | g.92718892_92718894del | CA589579137 | BICD2 | c.1755_1757del (p.Leu586del) c.1836_1838del (p.Leu613del) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718889G>A | CA466342994 | BICD2 | c.1756C>T (p.Leu586=) c.1837C>T (p.Leu613=) | dbSNP |
| 9 | g.92718889G>C | CA374036056 | BICD2 | c.1756C>G (p.Leu586Val) c.1837C>G (p.Leu613Val) | |
| 9 | g.92718889G>T | CA374036057 | BICD2 | c.1756C>A (p.Leu586Ile) c.1837C>A (p.Leu613Ile) | gnomAD v4 |
| 9 | g.92718890G>A | CA466342995 | BICD2 | c.1755C>T (p.Leu585=) c.1836C>T (p.Leu612=) | dbSNP |
| 9 | g.92718890G>C | CA466342997 | BICD2 | c.1755C>G (p.Leu585=) c.1836C>G (p.Leu612=) | |
| 9 | g.92718890G= | CA1864361108 | BICD2 | c.1755C= (p.Leu585=) c.1836C= (p.Leu612=) | |
| 9 | g.92718890G>T | CA466342999 | BICD2 | c.1755C>A (p.Leu585=) c.1836C>A (p.Leu612=) | |
| 9 | g.92718891A>C | CA374036059 | BICD2 | c.1754T>G (p.Leu585Arg) c.1835T>G (p.Leu612Arg) | |
| 9 | g.92718891A>G | CA374036061 | BICD2 | c.1754T>C (p.Leu585Pro) c.1835T>C (p.Leu612Pro) | |
| 9 | g.92718891A>T | CA374036063 | BICD2 | c.1754T>A (p.Leu585His) c.1835T>A (p.Leu612His) | |
| 9 | g.92718892G>A | CA374036065 | BICD2 | c.1753C>T (p.Leu585Phe) c.1834C>T (p.Leu612Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718892G>C | CA374036068 | BICD2 | c.1753C>G (p.Leu585Val) c.1834C>G (p.Leu612Val) | |
| 9 | g.92718892G= | CA1864361110 | BICD2 | c.1753C= (p.Leu585=) c.1834C= (p.Leu612=) | |
| 9 | g.92718892G>T | CA374036072 | BICD2 | c.1753C>A (p.Leu585Ile) c.1834C>A (p.Leu612Ile) | gnomAD v4 |
| 9 | g.92718893G>A | CA196340158 | BICD2 | c.1752C>T (p.Ile584=) c.1833C>T (p.Ile611=) | dbSNP gnomAD v4 |
| 9 | g.92718893G>C | CA374036073 | BICD2 | c.1752C>G (p.Ile584Met) c.1833C>G (p.Ile611Met) | |
| 9 | g.92718893G= | CA1864361116 | BICD2 | c.1752C= (p.Ile584=) c.1833C= (p.Ile611=) | |
| 9 | g.92718893G>T | CA466343007 | BICD2 | c.1752C>A (p.Ile584=) c.1833C>A (p.Ile611=) | |
| 9 | g.92718894A>C | CA374036075 | BICD2 | c.1751T>G (p.Ile584Ser) c.1832T>G (p.Ile611Ser) | |
| 9 | g.92718894A>G | CA374036077 | BICD2 | c.1751T>C (p.Ile584Thr) c.1832T>C (p.Ile611Thr) | |
| 9 | g.92718894A>T | CA374036082 | BICD2 | c.1751T>A (p.Ile584Asn) c.1832T>A (p.Ile611Asn) | gnomAD v4 |
| 9 | g.92718895T>A | CA374036092 | BICD2 | c.1750A>T (p.Ile584Phe) c.1831A>T (p.Ile611Phe) | |
| 9 | g.92718895T>C | CA374036087 | BICD2 | c.1750A>G (p.Ile584Val) c.1831A>G (p.Ile611Val) | gnomAD v3 gnomAD v4 |
| 9 | g.92718895T>G | CA374036085 | BICD2 | c.1750A>C (p.Ile584Leu) c.1831A>C (p.Ile611Leu) | |
| 9 | g.92718896G>A | CA5126486 | BICD2 | c.1749C>T (p.Pro583=) c.1830C>T (p.Pro610=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718896G>C | CA466343012 | BICD2 | c.1749C>G (p.Pro583=) c.1830C>G (p.Pro610=) | |
| 9 | g.92718896G= | CA1864361122 | BICD2 | c.1749C= (p.Pro583=) c.1830C= (p.Pro610=) | |
| 9 | g.92718896G>T | CA466343013 | BICD2 | c.1749C>A (p.Pro583=) c.1830C>A (p.Pro610=) | |
| 9 | g.92718897G>A | CA374036096 | BICD2 | c.1748C>T (p.Pro583Leu) c.1829C>T (p.Pro610Leu) | dbSNP gnomAD v2 |
| 9 | g.92718897G>C | CA374036098 | BICD2 | c.1748C>G (p.Pro583Arg) c.1829C>G (p.Pro610Arg) | |
| 9 | g.92718897G= | CA1864361125 | BICD2 | c.1748C= (p.Pro583=) c.1829C= (p.Pro610=) | |
| 9 | g.92718897G>T | CA374036101 | BICD2 | c.1748C>A (p.Pro583His) c.1829C>A (p.Pro610His) | |
| 9 | g.92718898G>A | CA374036102 | BICD2 | c.1747C>T (p.Pro583Ser) c.1828C>T (p.Pro610Ser) | |
| 9 | g.92718898G>C | CA374036103 | BICD2 | c.1747C>G (p.Pro583Ala) c.1828C>G (p.Pro610Ala) | |
| 9 | g.92718898G>T | CA374036113 | BICD2 | c.1747C>A (p.Pro583Thr) c.1828C>A (p.Pro610Thr) | gnomAD v4 |
| 9 | g.92718899T>A | CA466343017 | BICD2 | c.1746A>T (p.Ser582=) c.1827A>T (p.Ser609=) | |
| 9 | g.92718899T>C | CA466343019 | BICD2 | c.1746A>G (p.Ser582=) c.1827A>G (p.Ser609=) | dbSNP |
| 9 | g.92718899T>G | CA466343020 | BICD2 | c.1746A>C (p.Ser582=) c.1827A>C (p.Ser609=) | dbSNP |
| 9 | g.92718899T= | CA1864361129 | BICD2 | c.1746A= (p.Ser582=) c.1827A= (p.Ser609=) | |
| 9 | g.92718900G>A | CA374036116 | BICD2 | c.1745C>T (p.Ser582Leu) c.1826C>T (p.Ser609Leu) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718900G>C | CA374036117 | BICD2 | c.1745C>G (p.Ser582Ter) c.1826C>G (p.Ser609Ter) | |
| 9 | g.92718900G= | CA1864361133 | BICD2 | c.1745C= (p.Ser582=) c.1826C= (p.Ser609=) | |
| 9 | g.92718900G>T | CA374036118 | BICD2 | c.1745C>A (p.Ser582Ter) c.1826C>A (p.Ser609Ter) | gnomAD v4 |
| 9 | g.92718901A>C | CA374036119 | BICD2 | c.1744T>G (p.Ser582Ala) c.1825T>G (p.Ser609Ala) | |
| 9 | g.92718901A>G | CA374036120 | BICD2 | c.1744T>C (p.Ser582Pro) c.1825T>C (p.Ser609Pro) | gnomAD v4 |
| 9 | g.92718901A>T | CA374036121 | BICD2 | c.1744T>A (p.Ser582Thr) c.1825T>A (p.Ser609Thr) | |
| 9 | g.92718902G>A | CA466343022 | BICD2 | c.1743C>T (p.Arg581=) c.1824C>T (p.Arg608=) | gnomAD v4 |
| 9 | g.92718902G>C | CA466343023 | BICD2 | c.1743C>G (p.Arg581=) c.1824C>G (p.Arg608=) | |
| 9 | g.92718902G>T | CA466343024 | BICD2 | c.1743C>A (p.Arg581=) c.1824C>A (p.Arg608=) | gnomAD v4 |
| 9 | g.92718903C>A | CA374036126 | BICD2 | c.1742G>T (p.Arg581Leu) c.1823G>T (p.Arg608Leu) | gnomAD v4 |
| 9 | g.92718903C= | CA1864361136 | BICD2 | c.1742G= (p.Arg581=) c.1823G= (p.Arg608=) | |
| 9 | g.92718903C>G | CA374036128 | BICD2 | c.1742G>C (p.Arg581Pro) c.1823G>C (p.Arg608Pro) | |
| 9 | g.92718903C>T | CA5126487 | BICD2 | c.1742G>A (p.Arg581His) c.1823G>A (p.Arg608His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718904G>A | CA5126488 | BICD2 | c.1741C>T (p.Arg581Cys) c.1822C>T (p.Arg608Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718904G>C | CA374036130 | BICD2 | c.1741C>G (p.Arg581Gly) c.1822C>G (p.Arg608Gly) | |
| 9 | g.92718904G= | CA1864361146 | BICD2 | c.1741C= (p.Arg581=) c.1822C= (p.Arg608=) | |
| 9 | g.92718904G>T | CA374036129 | BICD2 | c.1741C>A (p.Arg581Ser) c.1822C>A (p.Arg608Ser) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718905C>A | CA466343025 | BICD2 | c.1740G>T (p.Arg580=) c.1821G>T (p.Arg607=) | gnomAD v4 |
| 9 | g.92718905C>G | CA466343027 | BICD2 | c.1740G>C (p.Arg580=) c.1821G>C (p.Arg607=) | |
| 9 | g.92718905C>T | CA466343029 | BICD2 | c.1740G>A (p.Arg580=) c.1821G>A (p.Arg607=) | |
| 9 | g.92718906C>A | CA374036131 | BICD2 | c.1739G>T (p.Arg580Leu) c.1820G>T (p.Arg607Leu) | |
| 9 | g.92718906C= | CA1864361154 | BICD2 | c.1739G= (p.Arg580=) c.1820G= (p.Arg607=) | |
| 9 | g.92718906C>G | CA374036132 | BICD2 | c.1739G>C (p.Arg580Pro) c.1820G>C (p.Arg607Pro) | dbSNP |
| 9 | g.92718906C>T | CA5126489 | BICD2 | c.1739G>A (p.Arg580Gln) c.1820G>A (p.Arg607Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718907G>A | CA5126490 | BICD2 | c.1738C>T (p.Arg580Trp) c.1819C>T (p.Arg607Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718907G>C | CA374036135 | BICD2 | c.1738C>G (p.Arg580Gly) c.1819C>G (p.Arg607Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718907G= | CA1864361164 | BICD2 | c.1738C= (p.Arg580=) c.1819C= (p.Arg607=) | |
| 9 | g.92718907G>T | CA196340218 | BICD2 | c.1738C>A (p.Arg580=) c.1819C>A (p.Arg607=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718908G>A | CA466343030 | BICD2 | c.1737C>T (p.Gly579=) c.1818C>T (p.Gly606=) | gnomAD v4 |
| 9 | g.92718908G>C | CA466343032 | BICD2 | c.1737C>G (p.Gly579=) c.1818C>G (p.Gly606=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718908G= | CA1864361170 | BICD2 | c.1737C= (p.Gly579=) c.1818C= (p.Gly606=) | |
| 9 | g.92718908G>T | CA466343031 | BICD2 | c.1737C>A (p.Gly579=) c.1818C>A (p.Gly606=) | |
| 9 | g.92718909C>A | CA374036140 | BICD2 | c.1736G>T (p.Gly579Val) c.1817G>T (p.Gly606Val) | COSMIC COSMIC |
| 9 | g.92718909C= | CA1864361173 | BICD2 | c.1736G= (p.Gly579=) c.1817G= (p.Gly606=) | |
| 9 | g.92718909C>G | CA374036142 | BICD2 | c.1736G>C (p.Gly579Ala) c.1817G>C (p.Gly606Ala) | |
| 9 | g.92718909C>T | CA5126491 | BICD2 | c.1736G>A (p.Gly579Asp) c.1817G>A (p.Gly606Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718910C>A | CA374036144 | BICD2 | c.1735G>T (p.Gly579Cys) c.1816G>T (p.Gly606Cys) | |
| 9 | g.92718910C>G | CA374036146 | BICD2 | c.1735G>C (p.Gly579Arg) c.1816G>C (p.Gly606Arg) | |
| 9 | g.92718910C>T | CA374036148 | BICD2 | c.1735G>A (p.Gly579Ser) c.1816G>A (p.Gly606Ser) | |
| 9 | g.92718911A= | CA1864361176 | BICD2 | c.1734T= (p.Arg578=) c.1815T= (p.Arg605=) | |
| 9 | g.92718911A>C | CA466343035 | BICD2 | c.1734T>G (p.Arg578=) c.1815T>G (p.Arg605=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718911A>G | CA466343034 | BICD2 | c.1734T>C (p.Arg578=) c.1815T>C (p.Arg605=) | dbSNP |
| 9 | g.92718911A>T | CA466343033 | BICD2 | c.1734T>A (p.Arg578=) c.1815T>A (p.Arg605=) |