Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |