| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.18526507_18526508dup | CA312396309 | SEC23B | c.969_970dup (p.Arg324HisfsTer4) c.915_916dup (p.Arg306HisfsTer4) | dbSNP |
| 20 | g.18526508C>A | CA509826824 | SEC23B | c.970C>A (p.Arg324=) c.916C>A (p.Arg306=) | |
| 20 | g.18526508C= | CA2353557162 | SEC23B | c.970C= (p.Arg324=) c.916C= (p.Arg306=) | |
| 20 | g.18526508C>G | CA408360309 | SEC23B | c.970C>G (p.Arg324Gly) c.916C>G (p.Arg306Gly) | |
| 20 | g.18526508C>T | CA114853 | SEC23B | c.970C>T (p.Arg324Ter) c.916C>T (p.Arg306Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526509G>A | CA408360310 | SEC23B | c.971G>A (p.Arg324Gln) c.917G>A (p.Arg306Gln) | gnomAD v4 |
| 20 | g.18526509G>C | CA9778173 | SEC23B | c.971G>C (p.Arg324Pro) c.917G>C (p.Arg306Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526509G= | CA2353557163 | SEC23B | c.971G= (p.Arg324=) c.917G= (p.Arg306=) | |
| 20 | g.18526509G>T | CA408360311 | SEC23B | c.971G>T (p.Arg324Leu) c.917G>T (p.Arg306Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.18526510A>C | CA509826837 | SEC23B | c.972A>C (p.Arg324=) c.918A>C (p.Arg306=) | |
| 20 | g.18526510A>G | CA509826840 | SEC23B | c.972A>G (p.Arg324=) c.918A>G (p.Arg306=) | |
| 20 | g.18526510A>T | CA509826842 | SEC23B | c.972A>T (p.Arg324=) c.918A>T (p.Arg306=) | |
| 20 | g.18526511T>A | CA408360312 | SEC23B | c.973T>A (p.Phe325Ile) c.919T>A (p.Phe307Ile) | |
| 20 | g.18526511T>C | CA9778174 | SEC23B | c.973T>C (p.Phe325Leu) c.919T>C (p.Phe307Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.18526511T>G | CA408360313 | SEC23B | c.973T>G (p.Phe325Val) c.919T>G (p.Phe307Val) | |
| 20 | g.18526511T= | CA2353557164 | SEC23B | c.973T= (p.Phe325=) c.919T= (p.Phe307=) | |
| 20 | g.18526512T>A | CA408360314 | SEC23B | c.974T>A (p.Phe325Tyr) c.920T>A (p.Phe307Tyr) | |
| 20 | g.18526512T>C | CA408360315 | SEC23B | c.974T>C (p.Phe325Ser) c.920T>C (p.Phe307Ser) | |
| 20 | g.18526512T>G | CA408360316 | SEC23B | c.974T>G (p.Phe325Cys) c.920T>G (p.Phe307Cys) | |
| 20 | g.18526513C>A | CA408360317 | SEC23B | c.975C>A (p.Phe325Leu) c.921C>A (p.Phe307Leu) | gnomAD v4 |
| 20 | g.18526513C>G | CA408360318 | SEC23B | c.975C>G (p.Phe325Leu) c.921C>G (p.Phe307Leu) | |
| 20 | g.18526513C>T | CA509826851 | SEC23B | c.975C>T (p.Phe325=) c.921C>T (p.Phe307=) | |
| 20 | g.18526514A= | CA2353557165 | SEC23B | c.976A= (p.Met326=) c.922A= (p.Met308=) | |
| 20 | g.18526514A>C | CA408360321 | SEC23B | c.976A>C (p.Met326Leu) c.922A>C (p.Met308Leu) | |
| 20 | g.18526514A>G | CA408360319 | SEC23B | c.976A>G (p.Met326Val) c.922A>G (p.Met308Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526514A>T | CA408360320 | SEC23B | c.976A>T (p.Met326Leu) c.922A>T (p.Met308Leu) | |
| 20 | g.18526515T>A | CA408360322 | SEC23B | c.977T>A (p.Met326Lys) c.923T>A (p.Met308Lys) | |
| 20 | g.18526515T>C | CA408360323 | SEC23B | c.977T>C (p.Met326Thr) c.923T>C (p.Met308Thr) | |
| 20 | g.18526515T>G | CA408360324 | SEC23B | c.977T>G (p.Met326Arg) c.923T>G (p.Met308Arg) | |
| 20 | g.18526516G>A | CA408360325 | SEC23B | c.978G>A (p.Met326Ile) c.924G>A (p.Met308Ile) | |
| 20 | g.18526516G>C | CA408360326 | SEC23B | c.978G>C (p.Met326Ile) c.924G>C (p.Met308Ile) | |
| 20 | g.18526516G>T | CA408360327 | SEC23B | c.978G>T (p.Met326Ile) c.924G>T (p.Met308Ile) | |
| 20 | g.18526517A>C | CA408360328 | SEC23B | c.979A>C (p.Lys327Gln) c.925A>C (p.Lys309Gln) | |
| 20 | g.18526517A>G | CA408360329 | SEC23B | c.979A>G (p.Lys327Glu) c.925A>G (p.Lys309Glu) | |
| 20 | g.18526517A>T | CA408360330 | SEC23B | c.979A>T (p.Lys327Ter) c.925A>T (p.Lys309Ter) | |
| 20 | g.18526521dup | CA2740097034 | SEC23B | c.983dup (p.Ala329GlyfsTer6) c.983dup (p.Ala329GlyfsTer?) c.929dup (p.Ala311GlyfsTer6) | ClinVar |
| 20 | g.18526518A= | CA2353557166 | SEC23B | c.980A= (p.Lys327=) c.926A= (p.Lys309=) | |
| 20 | g.18526518A>C | CA408360331 | SEC23B | c.980A>C (p.Lys327Thr) c.926A>C (p.Lys309Thr) | |
| 20 | g.18526518A>G | CA9778175 | SEC23B | c.980A>G (p.Lys327Arg) c.926A>G (p.Lys309Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18526518A>T | CA408360332 | SEC23B | c.980A>T (p.Lys327Ile) c.926A>T (p.Lys309Ile) | |
| 20 | g.18526519A= | CA2353557167 | SEC23B | c.981A= (p.Lys327=) c.927A= (p.Lys309=) | |
| 20 | g.18526519A>C | CA408360333 | SEC23B | c.981A>C (p.Lys327Asn) c.927A>C (p.Lys309Asn) | |
| 20 | g.18526519A>G | CA509826879 | SEC23B | c.981A>G (p.Lys327=) c.927A>G (p.Lys309=) | |
| 20 | g.18526519A>T | CA408360334 | SEC23B | c.981A>T (p.Lys327Asn) c.927A>T (p.Lys309Asn) | |
| 20 | g.18526519_18526520insTCGTGCATTCATG | CA2353557168 | SEC23B | c.981_982insTCGTGCATTCATG (p.Lys328SerfsTer11) c.981_982insTCGTGCATTCATG (p.Lys328SerfsTer?) c.927_928insTCGTGCATTCATG (p.Lys310SerfsTer11) | dbSNP |
| 20 | g.18526520A>C | CA408360335 | SEC23B | c.982A>C (p.Lys328Gln) c.928A>C (p.Lys310Gln) | |
| 20 | g.18526520A>G | CA408360336 | SEC23B | c.982A>G (p.Lys328Glu) c.928A>G (p.Lys310Glu) | |
| 20 | g.18526520A>T | CA408360337 | SEC23B | c.982A>T (p.Lys328Ter) c.928A>T (p.Lys310Ter) | |
| 20 | g.18526521A= | CA2353557169 | SEC23B | c.983A= (p.Lys328=) c.929A= (p.Lys310=) | |
| 20 | g.18526521A>C | CA408360338 | SEC23B | c.983A>C (p.Lys328Thr) c.929A>C (p.Lys310Thr) |