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