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