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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 9 | g.92718912C>A | CA374036150 | BICD2 | c.1733G>T (p.Arg578Leu) c.1814G>T (p.Arg605Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718912C= | CA1864361180 | BICD2 | c.1733G= (p.Arg578=) c.1814G= (p.Arg605=) | |
| 9 | g.92718912C>G | CA374036153 | BICD2 | c.1733G>C (p.Arg578Pro) c.1814G>C (p.Arg605Pro) | dbSNP |
| 9 | g.92718912C>T | CA5126492 | BICD2 | c.1733G>A (p.Arg578His) c.1814G>A (p.Arg605His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718912_92718913delinsCG | CA1864361185 | BICD2 | c.1732_1733delinsCG (p.Arg578=) c.1813_1814delinsCG (p.Arg605=) | |
| 9 | g.92718913del | CA658657873 | BICD2 | c.1732del (p.Arg578ValfsTer?) c.1813del (p.Arg605ValfsTer?) | ClinVar dbSNP |
| 9 | g.92718913G>A | CA5126493 | BICD2 | c.1732C>T (p.Arg578Cys) c.1813C>T (p.Arg605Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718913G>C | CA5126494 | BICD2 | c.1732C>G (p.Arg578Gly) c.1813C>G (p.Arg605Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718913G= | CA1864361191 | BICD2 | c.1732C= (p.Arg578=) c.1813C= (p.Arg605=) | |
| 9 | g.92718913G>T | CA374036165 | BICD2 | c.1732C>A (p.Arg578Ser) c.1813C>A (p.Arg605Ser) | |
| 9 | g.92718914C>A | CA466343036 | BICD2 | c.1731G>T (p.Ala577=) c.1812G>T (p.Ala604=) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718914C= | CA1864361199 | BICD2 | c.1731G= (p.Ala577=) c.1812G= (p.Ala604=) | |
| 9 | g.92718914C>G | CA466343038 | BICD2 | c.1731G>C (p.Ala577=) c.1812G>C (p.Ala604=) | |
| 9 | g.92718914C>T | CA5126495 | BICD2 | c.1731G>A (p.Ala577=) c.1812G>A (p.Ala604=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718915G>A | CA5126496 | BICD2 | c.1730C>T (p.Ala577Val) c.1811C>T (p.Ala604Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718915G>C | CA374036167 | BICD2 | c.1730C>G (p.Ala577Gly) c.1811C>G (p.Ala604Gly) | |
| 9 | g.92718915G= | CA1864361203 | BICD2 | c.1730C= (p.Ala577=) c.1811C= (p.Ala604=) | |
| 9 | g.92718915G>T | CA374036168 | BICD2 | c.1730C>A (p.Ala577Glu) c.1811C>A (p.Ala604Glu) | gnomAD v4 |
| 9 | g.92718916C>A | CA374036169 | BICD2 | c.1729G>T (p.Ala577Ser) c.1810G>T (p.Ala604Ser) | gnomAD v4 |
| 9 | g.92718916C>G | CA374036170 | BICD2 | c.1729G>C (p.Ala577Pro) c.1810G>C (p.Ala604Pro) | |
| 9 | g.92718916C>T | CA374036171 | BICD2 | c.1729G>A (p.Ala577Thr) c.1810G>A (p.Ala604Thr) | gnomAD v4 |
| 9 | g.92718917C>A | CA374036173 | BICD2 | c.1728G>T (p.Glu576Asp) c.1809G>T (p.Glu603Asp) | |
| 9 | g.92718917C>G | CA374036175 | BICD2 | c.1728G>C (p.Glu576Asp) c.1809G>C (p.Glu603Asp) | |
| 9 | g.92718917C>T | CA466343042 | BICD2 | c.1728G>A (p.Glu576=) c.1809G>A (p.Glu603=) | gnomAD v4 |
| 9 | g.92718918T>A | CA374036181 | BICD2 | c.1727A>T (p.Glu576Val) c.1808A>T (p.Glu603Val) | |
| 9 | g.92718918T>C | CA196340249 | BICD2 | c.1727A>G (p.Glu576Gly) c.1808A>G (p.Glu603Gly) | dbSNP gnomAD v4 |
| 9 | g.92718918T>G | CA374036176 | BICD2 | c.1727A>C (p.Glu576Ala) c.1808A>C (p.Glu603Ala) | |
| 9 | g.92718918T= | CA1864361206 | BICD2 | c.1727A= (p.Glu576=) c.1808A= (p.Glu603=) | |
| 9 | g.92718918_92718936delinsTCGGGGCTGGTGCGGCCCC | CA1864361208 | BICD2 | c.1709_1727delinsGGGGCCGCACCAGCCCCGA (p.Gly570=) c.1790_1808delinsGGGGCCGCACCAGCCCCGA (p.Gly597=) | |
| 9 | g.92718919C>A | CA374036184 | BICD2 | c.1726G>T (p.Glu576Ter) c.1807G>T (p.Glu603Ter) | |
| 9 | g.92718919C>G | CA374036186 | BICD2 | c.1726G>C (p.Glu576Gln) c.1807G>C (p.Glu603Gln) | |
| 9 | g.92718919C>T | CA374036189 | BICD2 | c.1726G>A (p.Glu576Lys) c.1807G>A (p.Glu603Lys) | gnomAD v4 |
| 9 | g.92718923_92718940del | CA589579138 | BICD2 | c.1709_1726del (p.Gly570_Pro575del) c.1790_1807del (p.Gly597_Pro602del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718920G>A | CA5126497 | BICD2 | c.1725C>T (p.Pro575=) c.1806C>T (p.Pro602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718920G>C | CA5126498 | BICD2 | c.1725C>G (p.Pro575=) c.1806C>G (p.Pro602=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718920G= | CA1864361221 | BICD2 | c.1725C= (p.Pro575=) c.1806C= (p.Pro602=) | |
| 9 | g.92718920G>T | CA466343044 | BICD2 | c.1725C>A (p.Pro575=) c.1806C>A (p.Pro602=) | gnomAD v4 |
| 9 | g.92718921G>A | CA374036195 | BICD2 | c.1724C>T (p.Pro575Leu) c.1805C>T (p.Pro602Leu) | |
| 9 | g.92718921G>C | CA374036198 | BICD2 | c.1724C>G (p.Pro575Arg) c.1805C>G (p.Pro602Arg) | |
| 9 | g.92718921G= | CA1864361229 | BICD2 | c.1724C= (p.Pro575=) c.1805C= (p.Pro602=) | |
| 9 | g.92718921G>T | CA5126499 | BICD2 | c.1724C>A (p.Pro575His) c.1805C>A (p.Pro602His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718922G>A | CA5126500 | BICD2 | c.1723C>T (p.Pro575Ser) c.1804C>T (p.Pro602Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718922G>C | CA374036200 | BICD2 | c.1723C>G (p.Pro575Ala) c.1804C>G (p.Pro602Ala) | |
| 9 | g.92718922G= | CA1864361233 | BICD2 | c.1723C= (p.Pro575=) c.1804C= (p.Pro602=) | |
| 9 | g.92718922G>T | CA374036201 | BICD2 | c.1723C>A (p.Pro575Thr) c.1804C>A (p.Pro602Thr) | gnomAD v4 |
| 9 | g.92718923G>A | CA196340312 | BICD2 | c.1722C>T (p.Ser574=) c.1803C>T (p.Ser601=) | dbSNP gnomAD v2 |
| 9 | g.92718923G>C | CA374036205 | BICD2 | c.1722C>G (p.Ser574Arg) c.1803C>G (p.Ser601Arg) | |
| 9 | g.92718923G= | CA1864361237 | BICD2 | c.1722C= (p.Ser574=) c.1803C= (p.Ser601=) | |
| 9 | g.92718923G>T | CA374036202 | BICD2 | c.1722C>A (p.Ser574Arg) c.1803C>A (p.Ser601Arg) | |
| 9 | g.92718923_92718941delinsGCTGGTGCGGCCCCCGGGA | CA1864361239 | BICD2 | c.1704_1722delinsTCCCGGGGGCCGCACCAGC (p.Ser568=) c.1785_1803delinsTCCCGGGGGCCGCACCAGC (p.Ser595=) | |
| 9 | g.92718924C>A | CA374036207 | BICD2 | c.1721G>T (p.Ser574Ile) c.1802G>T (p.Ser601Ile) | |
| 9 | g.92718924C= | CA1864361248 | BICD2 | c.1721G= (p.Ser574=) c.1802G= (p.Ser601=) | |
| 9 | g.92718924C>G | CA374036209 | BICD2 | c.1721G>C (p.Ser574Thr) c.1802G>C (p.Ser601Thr) | |
| 9 | g.92718924C>T | CA196340316 | BICD2 | c.1721G>A (p.Ser574Asn) c.1802G>A (p.Ser601Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718935_92718952dup | CA196340315 | BICD2 | c.1704_1721dup (p.Ser574_Pro575insProGlyGlyArgThrSer) c.1785_1802dup (p.Ser601_Pro602insProGlyGlyArgThrSer) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718935_92718952del | CA868524750 | BICD2 | c.1704_1721del (p.Pro569_Ser574del) c.1785_1802del (p.Pro596_Ser601del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718925T>A | CA374036212 | BICD2 | c.1720A>T (p.Ser574Cys) c.1801A>T (p.Ser601Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718925T>C | CA374036214 | BICD2 | c.1720A>G (p.Ser574Gly) c.1801A>G (p.Ser601Gly) | |
| 9 | g.92718925T>G | CA374036215 | BICD2 | c.1720A>C (p.Ser574Arg) c.1801A>C (p.Ser601Arg) | |
| 9 | g.92718926G>A | CA466343054 | BICD2 | c.1719C>T (p.Thr573=) c.1800C>T (p.Thr600=) | dbSNP gnomAD v4 |
| 9 | g.92718926G>C | CA466343056 | BICD2 | c.1719C>G (p.Thr573=) c.1800C>G (p.Thr600=) | |
| 9 | g.92718926G= | CA1864361255 | BICD2 | c.1719C= (p.Thr573=) c.1800C= (p.Thr600=) | |
| 9 | g.92718926G>T | CA466343058 | BICD2 | c.1719C>A (p.Thr573=) c.1800C>A (p.Thr600=) | ClinVar dbSNP gnomAD v4 |
| 9 | g.92718927G>A | CA374036221 | BICD2 | c.1718C>T (p.Thr573Ile) c.1799C>T (p.Thr600Ile) | gnomAD v4 |
| 9 | g.92718927G>C | CA5126501 | BICD2 | c.1718C>G (p.Thr573Ser) c.1799C>G (p.Thr600Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718927G= | CA1864361258 | BICD2 | c.1718C= (p.Thr573=) c.1799C= (p.Thr600=) | |
| 9 | g.92718927G>T | CA374036223 | BICD2 | c.1718C>A (p.Thr573Asn) c.1799C>A (p.Thr600Asn) | |
| 9 | g.92718928T>A | CA374036226 | BICD2 | c.1717A>T (p.Thr573Ser) c.1798A>T (p.Thr600Ser) | |
| 9 | g.92718928T>C | CA374036228 | BICD2 | c.1717A>G (p.Thr573Ala) c.1798A>G (p.Thr600Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718928T>G | CA374036229 | BICD2 | c.1717A>C (p.Thr573Pro) c.1798A>C (p.Thr600Pro) | gnomAD v4 |
| 9 | g.92718928T= | CA1864361262 | BICD2 | c.1717A= (p.Thr573=) c.1798A= (p.Thr600=) | |
| 9 | g.92718929G>A | CA466343062 | BICD2 | c.1716C>T (p.Arg572=) c.1797C>T (p.Arg599=) | |
| 9 | g.92718929G>C | CA466343064 | BICD2 | c.1716C>G (p.Arg572=) c.1797C>G (p.Arg599=) | |
| 9 | g.92718929G= | CA1864361268 | BICD2 | c.1716C= (p.Arg572=) c.1797C= (p.Arg599=) | |
| 9 | g.92718929G>T | CA5126502 | BICD2 | c.1716C>A (p.Arg572=) c.1797C>A (p.Arg599=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718930C>A | CA5126504 | BICD2 | c.1715G>T (p.Arg572Leu) c.1796G>T (p.Arg599Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718930C= | CA1864361275 | BICD2 | c.1715G= (p.Arg572=) c.1796G= (p.Arg599=) | |
| 9 | g.92718930C>G | CA374036231 | BICD2 | c.1715G>C (p.Arg572Pro) c.1796G>C (p.Arg599Pro) | |
| 9 | g.92718930C>T | CA5126503 | BICD2 | c.1715G>A (p.Arg572His) c.1796G>A (p.Arg599His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92718931G>A | CA5126505 | BICD2 | c.1714C>T (p.Arg572Cys) c.1795C>T (p.Arg599Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718931G>C | CA374036234 | BICD2 | c.1714C>G (p.Arg572Gly) c.1795C>G (p.Arg599Gly) | |
| 9 | g.92718931G= | CA1864361284 | BICD2 | c.1714C= (p.Arg572=) c.1795C= (p.Arg599=) | |
| 9 | g.92718931G>T | CA374036232 | BICD2 | c.1714C>A (p.Arg572Ser) c.1795C>A (p.Arg599Ser) | gnomAD v4 |
| 9 | g.92718932G>A | CA466343066 | BICD2 | c.1713C>T (p.Gly571=) c.1794C>T (p.Gly598=) | |
| 9 | g.92718932G>C | CA5126506 | BICD2 | c.1713C>G (p.Gly571=) c.1794C>G (p.Gly598=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718932G= | CA1864361289 | BICD2 | c.1713C= (p.Gly571=) c.1794C= (p.Gly598=) | |
| 9 | g.92718932G>T | CA466343067 | BICD2 | c.1713C>A (p.Gly571=) c.1794C>A (p.Gly598=) | gnomAD v4 |
| 9 | g.92718933C>A | CA374036237 | BICD2 | c.1712G>T (p.Gly571Val) c.1793G>T (p.Gly598Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718933C= | CA1864361292 | BICD2 | c.1712G= (p.Gly571=) c.1793G= (p.Gly598=) | |
| 9 | g.92718933C>G | CA374036239 | BICD2 | c.1712G>C (p.Gly571Ala) c.1793G>C (p.Gly598Ala) | |
| 9 | g.92718933C>T | CA374036241 | BICD2 | c.1712G>A (p.Gly571Asp) c.1793G>A (p.Gly598Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718937dup | CA2579381918 | BICD2 | c.1712dup (p.Arg572ProfsTer23) c.1793dup (p.Arg599ProfsTer23) | |
| 9 | g.92718937del | CA2690686266 | BICD2 | c.1712del (p.Gly571AlafsTer?) c.1793del (p.Gly598AlafsTer?) | gnomAD v4 |
| 9 | g.92718934C>A | CA374036243 | BICD2 | c.1711G>T (p.Gly571Cys) c.1792G>T (p.Gly598Cys) | |
| 9 | g.92718934C= | CA1864361295 | BICD2 | c.1711G= (p.Gly571=) c.1792G= (p.Gly598=) | |
| 9 | g.92718934C>G | CA374036246 | BICD2 | c.1711G>C (p.Gly571Arg) c.1792G>C (p.Gly598Arg) | |
| 9 | g.92718934C>T | CA374036248 | BICD2 | c.1711G>A (p.Gly571Ser) c.1792G>A (p.Gly598Ser) | ClinVar dbSNP |
| 9 | g.92718935C>A | CA466343070 | BICD2 | c.1710G>T (p.Gly570=) c.1791G>T (p.Gly597=) | dbSNP gnomAD v4 |
| 9 | g.92718935C= | CA1864361297 | BICD2 | c.1710G= (p.Gly570=) c.1791G= (p.Gly597=) | |
| 9 | g.92718935C>G | CA466343072 | BICD2 | c.1710G>C (p.Gly570=) c.1791G>C (p.Gly597=) | |
| 9 | g.92718935C>T | CA466343074 | BICD2 | c.1710G>A (p.Gly570=) c.1791G>A (p.Gly597=) | |
| 9 | g.92718936C>A | CA374036250 | BICD2 | c.1709G>T (p.Gly570Val) c.1790G>T (p.Gly597Val) | |
| 9 | g.92718936C= | CA1864361302 | BICD2 | c.1709G= (p.Gly570=) c.1790G= (p.Gly597=) | |
| 9 | g.92718936C>G | CA374036252 | BICD2 | c.1709G>C (p.Gly570Ala) c.1790G>C (p.Gly597Ala) | |
| 9 | g.92718936C>T | CA374036254 | BICD2 | c.1709G>A (p.Gly570Glu) c.1790G>A (p.Gly597Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718937C>A | CA374036261 | BICD2 | c.1708G>T (p.Gly570Trp) c.1789G>T (p.Gly597Trp) | |
| 9 | g.92718937C= | CA1864361312 | BICD2 | c.1708G= (p.Gly570=) c.1789G= (p.Gly597=) | |
| 9 | g.92718937C>G | CA374036259 | BICD2 | c.1708G>C (p.Gly570Arg) c.1789G>C (p.Gly597Arg) | gnomAD v4 |
| 9 | g.92718937C>T | CA374036255 | BICD2 | c.1708G>A (p.Gly570Arg) c.1789G>A (p.Gly597Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718938G>A | CA5126507 | BICD2 | c.1707C>T (p.Pro569=) c.1788C>T (p.Pro596=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718938G>C | CA466343077 | BICD2 | c.1707C>G (p.Pro569=) c.1788C>G (p.Pro596=) | |
| 9 | g.92718938G= | CA1864361317 | BICD2 | c.1707C= (p.Pro569=) c.1788C= (p.Pro596=) | |
| 9 | g.92718938G>T | CA466343078 | BICD2 | c.1707C>A (p.Pro569=) c.1788C>A (p.Pro596=) | |
| 9 | g.92718939G>A | CA374036268 | BICD2 | c.1706C>T (p.Pro569Leu) c.1787C>T (p.Pro596Leu) | dbSNP COSMIC COSMIC |
| 9 | g.92718939G>C | CA374036271 | BICD2 | c.1706C>G (p.Pro569Arg) c.1787C>G (p.Pro596Arg) | |
| 9 | g.92718939G>T | CA374036272 | BICD2 | c.1706C>A (p.Pro569His) c.1787C>A (p.Pro596His) | gnomAD v4 |
| 9 | g.92718940G>A | CA374036275 | BICD2 | c.1705C>T (p.Pro569Ser) c.1786C>T (p.Pro596Ser) | |
| 9 | g.92718940G>C | CA196340353 | BICD2 | c.1705C>G (p.Pro569Ala) c.1786C>G (p.Pro596Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718940G= | CA1864361325 | BICD2 | c.1705C= (p.Pro569=) c.1786C= (p.Pro596=) | |
| 9 | g.92718940G>T | CA374036278 | BICD2 | c.1705C>A (p.Pro569Thr) c.1786C>A (p.Pro596Thr) | |
| 9 | g.92718941A>C | CA374036279 | BICD2 | c.1704T>G (p.Ser568Arg) c.1785T>G (p.Ser595Arg) | |
| 9 | g.92718941A>G | CA466343081 | BICD2 | c.1704T>C (p.Ser568=) c.1785T>C (p.Ser595=) | |
| 9 | g.92718941A>T | CA374036280 | BICD2 | c.1704T>A (p.Ser568Arg) c.1785T>A (p.Ser595Arg) | |
| 9 | g.92718942C>A | CA374036281 | BICD2 | c.1703G>T (p.Ser568Ile) c.1784G>T (p.Ser595Ile) | gnomAD v4 |
| 9 | g.92718942C= | CA1864361329 | BICD2 | c.1703G= (p.Ser568=) c.1784G= (p.Ser595=) | |
| 9 | g.92718942C>G | CA374036282 | BICD2 | c.1703G>C (p.Ser568Thr) c.1784G>C (p.Ser595Thr) | ClinVar dbSNP gnomAD v2 |
| 9 | g.92718942C>T | CA374036283 | BICD2 | c.1703G>A (p.Ser568Asn) c.1784G>A (p.Ser595Asn) | |
| 9 | g.92718943T>A | CA374036285 | BICD2 | c.1702A>T (p.Ser568Cys) c.1783A>T (p.Ser595Cys) | |
| 9 | g.92718943T>C | CA374036287 | BICD2 | c.1702A>G (p.Ser568Gly) c.1783A>G (p.Ser595Gly) | gnomAD v4 |
| 9 | g.92718943T>G | CA374036284 | BICD2 | c.1702A>C (p.Ser568Arg) c.1783A>C (p.Ser595Arg) | |
| 9 | g.92718944G>A | CA466343084 | BICD2 | c.1701C>T (p.Thr567=) c.1782C>T (p.Thr594=) | |
| 9 | g.92718944G>C | CA466343086 | BICD2 | c.1701C>G (p.Thr567=) c.1782C>G (p.Thr594=) | |
| 9 | g.92718944G>T | CA466343087 | BICD2 | c.1701C>A (p.Thr567=) c.1782C>A (p.Thr594=) | |
| 9 | g.92718945G>A | CA374036289 | BICD2 | c.1700C>T (p.Thr567Ile) c.1781C>T (p.Thr594Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.92718945G>C | CA374036291 | BICD2 | c.1700C>G (p.Thr567Ser) c.1781C>G (p.Thr594Ser) | |
| 9 | g.92718945G= | CA1864361332 | BICD2 | c.1700C= (p.Thr567=) c.1781C= (p.Thr594=) | |
| 9 | g.92718945G>T | CA374036293 | BICD2 | c.1700C>A (p.Thr567Asn) c.1781C>A (p.Thr594Asn) | |
| 9 | g.92718946T>A | CA374036295 | BICD2 | c.1699A>T (p.Thr567Ser) c.1780A>T (p.Thr594Ser) | |
| 9 | g.92718946T>C | CA374036297 | BICD2 | c.1699A>G (p.Thr567Ala) c.1780A>G (p.Thr594Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718946T>G | CA374036299 | BICD2 | c.1699A>C (p.Thr567Pro) c.1780A>C (p.Thr594Pro) | gnomAD v4 |
| 9 | g.92718946T= | CA1864361334 | BICD2 | c.1699A= (p.Thr567=) c.1780A= (p.Thr594=) | |
| 9 | g.92718947G>A | CA466343088 | BICD2 | c.1698C>T (p.Arg566=) c.1779C>T (p.Arg593=) | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.92718947G>C | CA466343089 | BICD2 | c.1698C>G (p.Arg566=) c.1779C>G (p.Arg593=) | |
| 9 | g.92718947G>T | CA466343091 | BICD2 | c.1698C>A (p.Arg566=) c.1779C>A (p.Arg593=) | |
| 9 | g.92718951_92718974del | CA2739269405 | BICD2 | c.1675_1698del (p.Glu559_Arg566del) c.1756_1779del (p.Glu586_Arg593del) | ClinVar |
| 9 | g.92718948C>A | CA5126508 | BICD2 | c.1697G>T (p.Arg566Leu) c.1778G>T (p.Arg593Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.92718948C= | CA1864361337 | BICD2 | c.1697G= (p.Arg566=) c.1778G= (p.Arg593=) | |
| 9 | g.92718948C>G | CA374036302 | BICD2 | c.1697G>C (p.Arg566Pro) c.1778G>C (p.Arg593Pro) | |
| 9 | g.92718948C>T | CA5126509 | BICD2 | c.1697G>A (p.Arg566His) c.1778G>A (p.Arg593His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718949G>A | CA5126510 | BICD2 | c.1696C>T (p.Arg566Cys) c.1777C>T (p.Arg593Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.92718949G>C | CA374036306 | BICD2 | c.1696C>G (p.Arg566Gly) c.1777C>G (p.Arg593Gly) | |
| 9 | g.92718949G= | CA1864361344 | BICD2 | c.1696C= (p.Arg566=) c.1777C= (p.Arg593=) | |
| 9 | g.92718949G>T | CA374036308 | BICD2 | c.1696C>A (p.Arg566Ser) c.1777C>A (p.Arg593Ser) | |
| 9 | g.92718950del | CA2840612139 | BICD2 | c.1696del (p.Arg566AlafsTer?) c.1777del (p.Arg593AlafsTer?) | |
| 9 | g.92718950G>A | CA466343097 | BICD2 | c.1695C>T (p.Gly565=) c.1776C>T (p.Gly592=) | gnomAD v4 |
| 9 | g.92718950G>C | CA466343098 | BICD2 | c.1695C>G (p.Gly565=) c.1776C>G (p.Gly592=) | gnomAD v4 |
| 9 | g.92718950G>T | CA466343096 | BICD2 | c.1695C>A (p.Gly565=) c.1776C>A (p.Gly592=) | gnomAD v4 |
| 9 | g.92718951C>A | CA374036312 | BICD2 | c.1694G>T (p.Gly565Val) c.1775G>T (p.Gly592Val) | |
| 9 | g.92718951C>G | CA374036314 | BICD2 | c.1694G>C (p.Gly565Ala) c.1775G>C (p.Gly592Ala) | |
| 9 | g.92718951C>T | CA374036310 | BICD2 | c.1694G>A (p.Gly565Asp) c.1775G>A (p.Gly592Asp) | gnomAD v4 |
| 9 | g.92718952C>A | CA374036316 | BICD2 | c.1693G>T (p.Gly565Cys) c.1774G>T (p.Gly592Cys) | |
| 9 | g.92718952C= | CA1864361349 | BICD2 | c.1693G= (p.Gly565=) c.1774G= (p.Gly592=) | |
| 9 | g.92718952C>G | CA374036318 | BICD2 | c.1693G>C (p.Gly565Arg) c.1774G>C (p.Gly592Arg) | |
| 9 | g.92718952C>T | CA374036319 | BICD2 | c.1693G>A (p.Gly565Ser) c.1774G>A (p.Gly592Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718953G>A | CA5126511 | BICD2 | c.1692C>T (p.Ala564=) c.1773C>T (p.Ala591=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718953G>C | CA466343105 | BICD2 | c.1692C>G (p.Ala564=) c.1773C>G (p.Ala591=) | gnomAD v4 |
| 9 | g.92718953G= | CA1864361353 | BICD2 | c.1692C= (p.Ala564=) c.1773C= (p.Ala591=) | |
| 9 | g.92718953G>T | CA466343107 | BICD2 | c.1692C>A (p.Ala564=) c.1773C>A (p.Ala591=) | |
| 9 | g.92718954G>A | CA374036327 | BICD2 | c.1691C>T (p.Ala564Val) c.1772C>T (p.Ala591Val) | |
| 9 | g.92718954G>C | CA374036325 | BICD2 | c.1691C>G (p.Ala564Gly) c.1772C>G (p.Ala591Gly) | |
| 9 | g.92718954G>T | CA374036324 | BICD2 | c.1691C>A (p.Ala564Asp) c.1772C>A (p.Ala591Asp) | |
| 9 | g.92718955C>A | CA374036329 | BICD2 | c.1690G>T (p.Ala564Ser) c.1771G>T (p.Ala591Ser) | |
| 9 | g.92718955C>G | CA374036331 | BICD2 | c.1690G>C (p.Ala564Pro) c.1771G>C (p.Ala591Pro) | |
| 9 | g.92718955C>T | CA374036333 | BICD2 | c.1690G>A (p.Ala564Thr) c.1771G>A (p.Ala591Thr) | |
| 9 | g.92718958del | CA2690686267 | BICD2 | c.1690del (p.Ala564ProfsTer?) c.1771del (p.Ala591ProfsTer?) | gnomAD v4 |
| 9 | g.92718956C>A | CA466343110 | BICD2 | c.1689G>T (p.Gly563=) c.1770G>T (p.Gly590=) | gnomAD v4 |
| 9 | g.92718956C>G | CA466343112 | BICD2 | c.1689G>C (p.Gly563=) c.1770G>C (p.Gly590=) | |
| 9 | g.92718956C>T | CA466343111 | BICD2 | c.1689G>A (p.Gly563=) c.1770G>A (p.Gly590=) | |
| 9 | g.92718957C>A | CA374036334 | BICD2 | c.1688G>T (p.Gly563Val) c.1769G>T (p.Gly590Val) | |
| 9 | g.92718957C= | CA1864361356 | BICD2 | c.1688G= (p.Gly563=) c.1769G= (p.Gly590=) | |
| 9 | g.92718957C>G | CA374036335 | BICD2 | c.1688G>C (p.Gly563Ala) c.1769G>C (p.Gly590Ala) | |
| 9 | g.92718957C>T | CA374036337 | BICD2 | c.1688G>A (p.Gly563Glu) c.1769G>A (p.Gly590Glu) | ClinVar dbSNP |
| 9 | g.92718958C>A | CA374036340 | BICD2 | c.1687G>T (p.Gly563Trp) c.1768G>T (p.Gly590Trp) | |
| 9 | g.92718958C= | CA1864361360 | BICD2 | c.1687G= (p.Gly563=) c.1768G= (p.Gly590=) | |
| 9 | g.92718958C>G | CA374036339 | BICD2 | c.1687G>C (p.Gly563Arg) c.1768G>C (p.Gly590Arg) | |
| 9 | g.92718958C>T | CA196340391 | BICD2 | c.1687G>A (p.Gly563Arg) c.1768G>A (p.Gly590Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718959G>A | CA5126512 | BICD2 | c.1686C>T (p.Gly562=) c.1767C>T (p.Gly589=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.92718959G>C | CA466343115 | BICD2 | c.1686C>G (p.Gly562=) c.1767C>G (p.Gly589=) | |
| 9 | g.92718959G= | CA1864361367 | BICD2 | c.1686C= (p.Gly562=) c.1767C= (p.Gly589=) | |
| 9 | g.92718959G>T | CA466343116 | BICD2 | c.1686C>A (p.Gly562=) c.1767C>A (p.Gly589=) | |
| 9 | g.92718960C>A | CA374036347 | BICD2 | c.1685G>T (p.Gly562Val) c.1766G>T (p.Gly589Val) | |
| 9 | g.92718960C>G | CA374036343 | BICD2 | c.1685G>C (p.Gly562Ala) c.1766G>C (p.Gly589Ala) | |
| 9 | g.92718960C>T | CA374036345 | BICD2 | c.1685G>A (p.Gly562Asp) c.1766G>A (p.Gly589Asp) | |
| 9 | g.92718961C>A | CA374036349 | BICD2 | c.1684G>T (p.Gly562Cys) c.1765G>T (p.Gly589Cys) | |
| 9 | g.92718961C>G | CA374036350 | BICD2 | c.1684G>C (p.Gly562Arg) c.1765G>C (p.Gly589Arg) | |
| 9 | g.92718961C>T | CA374036352 | BICD2 | c.1684G>A (p.Gly562Ser) c.1765G>A (p.Gly589Ser) | COSMIC COSMIC |
| 9 | g.92718961_92718964dup | CA2690686268 | BICD2 | c.1681_1684dup (p.Gly562AlafsTer?) c.1762_1765dup (p.Gly589AlafsTer?) | gnomAD v4 |
| 9 | g.92718962C>A | CA374036355 | BICD2 | c.1683G>T (p.Gln561His) c.1764G>T (p.Gln588His) | |
| 9 | g.92718962C= | CA1864361370 | BICD2 | c.1683G= (p.Gln561=) c.1764G= (p.Gln588=) | |
| 9 | g.92718962C>G | CA374036357 | BICD2 | c.1683G>C (p.Gln561His) c.1764G>C (p.Gln588His) | |
| 9 | g.92718962C>T | CA5126513 | BICD2 | c.1683G>A (p.Gln561=) c.1764G>A (p.Gln588=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718963T>A | CA374036361 | BICD2 | c.1682A>T (p.Gln561Leu) c.1763A>T (p.Gln588Leu) | |
| 9 | g.92718963T>C | CA374036363 | BICD2 | c.1682A>G (p.Gln561Arg) c.1763A>G (p.Gln588Arg) | |
| 9 | g.92718963T>G | CA374036365 | BICD2 | c.1682A>C (p.Gln561Pro) c.1763A>C (p.Gln588Pro) | |
| 9 | g.92718964G>A | CA374036367 | BICD2 | c.1681C>T (p.Gln561Ter) c.1762C>T (p.Gln588Ter) | gnomAD v4 |
| 9 | g.92718964G>C | CA374036368 | BICD2 | c.1681C>G (p.Gln561Glu) c.1762C>G (p.Gln588Glu) | |
| 9 | g.92718964G>T | CA374036370 | BICD2 | c.1681C>A (p.Gln561Lys) c.1762C>A (p.Gln588Lys) | |
| 9 | g.92718965G>A | CA5126514 | BICD2 | c.1680C>T (p.Gly560=) c.1761C>T (p.Gly587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.92718965G>C | CA466343123 | BICD2 | c.1680C>G (p.Gly560=) c.1761C>G (p.Gly587=) | gnomAD v4 |
| 9 | g.92718965G= | CA1864361375 | BICD2 | c.1680C= (p.Gly560=) c.1761C= (p.Gly587=) | |
| 9 | g.92718965G>T | CA466343124 | BICD2 | c.1680C>A (p.Gly560=) c.1761C>A (p.Gly587=) | gnomAD v4 |
| 9 | g.92718966C>A | CA374036374 | BICD2 | c.1679G>T (p.Gly560Val) c.1760G>T (p.Gly587Val) | gnomAD v4 |
| 9 | g.92718966C= | CA1864361381 | BICD2 | c.1679G= (p.Gly560=) c.1760G= (p.Gly587=) | |
| 9 | g.92718966C>G | CA374036375 | BICD2 | c.1679G>C (p.Gly560Ala) c.1760G>C (p.Gly587Ala) | |
| 9 | g.92718966C>T | CA5126515 | BICD2 | c.1679G>A (p.Gly560Asp) c.1760G>A (p.Gly587Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |