UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.27463513G>A | CA290077 | CHRNA2 | c.930C>T (p.Phe310=) c.*760C>T (n.*760C>T) c.885C>T (p.Phe295=) n.290-1759C>T c.864C>T (p.Phe288=) c.*332C>T (n.*332C>T) c.453C>T (p.Phe151=) c.336C>T (p.Phe112=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27463513G>C | CA370810236 | CHRNA2 | c.930C>G (p.Phe310Leu) c.*760C>G (n.*760C>G) c.885C>G (p.Phe295Leu) n.290-1759C>G c.864C>G (p.Phe288Leu) c.*332C>G (n.*332C>G) c.453C>G (p.Phe151Leu) c.336C>G (p.Phe112Leu) | |
| 8 | g.27463513G= | CA1772814356 | CHRNA2 | c.930C= (p.Phe310=) c.*760C= (n.*760C=) c.885C= (p.Phe295=) n.290-1759C= c.864C= (p.Phe288=) c.*332C= (n.*332C=) c.453C= (p.Phe151=) c.336C= (p.Phe112=) | |
| 8 | g.27463513G>T | CA370810238 | CHRNA2 | c.930C>A (p.Phe310Leu) c.*760C>A (n.*760C>A) c.885C>A (p.Phe295Leu) n.290-1759C>A c.864C>A (p.Phe288Leu) c.*332C>A (n.*332C>A) c.453C>A (p.Phe151Leu) c.336C>A (p.Phe112Leu) | |
| 8 | g.27463514A= | CA1772814362 | CHRNA2 | c.929T= (p.Phe310=) c.*759T= (n.*759T=) c.884T= (p.Phe295=) n.290-1760T= c.863T= (p.Phe288=) c.*331T= (n.*331T=) c.452T= (p.Phe151=) c.335T= (p.Phe112=) | |
| 8 | g.27463514A>C | CA370810240 | CHRNA2 | c.929T>G (p.Phe310Cys) c.*759T>G (n.*759T>G) c.884T>G (p.Phe295Cys) n.290-1760T>G c.863T>G (p.Phe288Cys) c.*331T>G (n.*331T>G) c.452T>G (p.Phe151Cys) c.335T>G (p.Phe112Cys) | ClinVar dbSNP |
| 8 | g.27463514A>G | CA370810241 | CHRNA2 | c.929T>C (p.Phe310Ser) c.*759T>C (n.*759T>C) c.884T>C (p.Phe295Ser) n.290-1760T>C c.863T>C (p.Phe288Ser) c.*331T>C (n.*331T>C) c.452T>C (p.Phe151Ser) c.335T>C (p.Phe112Ser) | |
| 8 | g.27463514A>T | CA370810243 | CHRNA2 | c.929T>A (p.Phe310Tyr) c.*759T>A (n.*759T>A) c.884T>A (p.Phe295Tyr) n.290-1760T>A c.863T>A (p.Phe288Tyr) c.*331T>A (n.*331T>A) c.452T>A (p.Phe151Tyr) c.335T>A (p.Phe112Tyr) | ClinVar |
| 8 | g.27463515A>C | CA370810245 | CHRNA2 | c.928T>G (p.Phe310Val) c.*758T>G (n.*758T>G) c.883T>G (p.Phe295Val) n.290-1761T>G c.862T>G (p.Phe288Val) c.*330T>G (n.*330T>G) c.451T>G (p.Phe151Val) c.334T>G (p.Phe112Val) | |
| 8 | g.27463515A>G | CA370810247 | CHRNA2 | c.928T>C (p.Phe310Leu) c.*758T>C (n.*758T>C) c.883T>C (p.Phe295Leu) n.290-1761T>C c.862T>C (p.Phe288Leu) c.*330T>C (n.*330T>C) c.451T>C (p.Phe151Leu) c.334T>C (p.Phe112Leu) | |
| 8 | g.27463515A>T | CA370810248 | CHRNA2 | c.928T>A (p.Phe310Ile) c.*758T>A (n.*758T>A) c.883T>A (p.Phe295Ile) n.290-1761T>A c.862T>A (p.Phe288Ile) c.*330T>A (n.*330T>A) c.451T>A (p.Phe151Ile) c.334T>A (p.Phe112Ile) | |
| 8 | g.27463516G>A | CA460186611 | CHRNA2 | c.927C>T (p.Val309=) c.*757C>T (n.*757C>T) c.882C>T (p.Val294=) n.290-1762C>T c.861C>T (p.Val287=) c.*329C>T (n.*329C>T) c.450C>T (p.Val150=) c.333C>T (p.Val111=) | |
| 8 | g.27463516G>C | CA460186612 | CHRNA2 | c.927C>G (p.Val309=) c.*757C>G (n.*757C>G) c.882C>G (p.Val294=) n.290-1762C>G c.861C>G (p.Val287=) c.*329C>G (n.*329C>G) c.450C>G (p.Val150=) c.333C>G (p.Val111=) | |
| 8 | g.27463516G>T | CA460186613 | CHRNA2 | c.927C>A (p.Val309=) c.*757C>A (n.*757C>A) c.882C>A (p.Val294=) n.290-1762C>A c.861C>A (p.Val287=) c.*329C>A (n.*329C>A) c.450C>A (p.Val150=) c.333C>A (p.Val111=) | |
| 8 | g.27463517A>C | CA370810251 | CHRNA2 | c.926T>G (p.Val309Gly) c.*756T>G (n.*756T>G) c.881T>G (p.Val294Gly) n.290-1763T>G c.860T>G (p.Val287Gly) c.*328T>G (n.*328T>G) c.449T>G (p.Val150Gly) c.332T>G (p.Val111Gly) | |
| 8 | g.27463517A>G | CA370810253 | CHRNA2 | c.926T>C (p.Val309Ala) c.*756T>C (n.*756T>C) c.881T>C (p.Val294Ala) n.290-1763T>C c.860T>C (p.Val287Ala) c.*328T>C (n.*328T>C) c.449T>C (p.Val150Ala) c.332T>C (p.Val111Ala) | |
| 8 | g.27463517A>T | CA370810249 | CHRNA2 | c.926T>A (p.Val309Asp) c.*756T>A (n.*756T>A) c.881T>A (p.Val294Asp) n.290-1763T>A c.860T>A (p.Val287Asp) c.*328T>A (n.*328T>A) c.449T>A (p.Val150Asp) c.332T>A (p.Val111Asp) | |
| 8 | g.27463518C>A | CA370810255 | CHRNA2 | c.925G>T (p.Val309Phe) c.*755G>T (n.*755G>T) c.880G>T (p.Val294Phe) n.290-1764G>T c.859G>T (p.Val287Phe) c.*327G>T (n.*327G>T) c.448G>T (p.Val150Phe) c.331G>T (p.Val111Phe) | gnomAD v4 |
| 8 | g.27463518C= | CA1772814371 | CHRNA2 | c.925G= (p.Val309=) c.*755G= (n.*755G=) c.880G= (p.Val294=) n.290-1764G= c.859G= (p.Val287=) c.*327G= (n.*327G=) c.448G= (p.Val150=) c.331G= (p.Val111=) | |
| 8 | g.27463518C>G | CA4689570 | CHRNA2 | c.925G>C (p.Val309Leu) c.*755G>C (n.*755G>C) c.880G>C (p.Val294Leu) n.290-1764G>C c.859G>C (p.Val287Leu) c.*327G>C (n.*327G>C) c.448G>C (p.Val150Leu) c.331G>C (p.Val111Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463518C>T | CA4689571 | CHRNA2 | c.925G>A (p.Val309Ile) c.*755G>A (n.*755G>A) c.880G>A (p.Val294Ile) n.290-1764G>A c.859G>A (p.Val287Ile) c.*327G>A (n.*327G>A) c.448G>A (p.Val150Ile) c.331G>A (p.Val111Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27463519G>A | CA4689572 | CHRNA2 | c.924C>T (p.Thr308=) c.*754C>T (n.*754C>T) c.879C>T (p.Thr293=) n.290-1765C>T c.858C>T (p.Thr286=) c.*326C>T (n.*326C>T) c.447C>T (p.Thr149=) c.330C>T (p.Thr110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.27463519G>C | CA460186615 | CHRNA2 | c.924C>G (p.Thr308=) c.*754C>G (n.*754C>G) c.879C>G (p.Thr293=) n.290-1765C>G c.858C>G (p.Thr286=) c.*326C>G (n.*326C>G) c.447C>G (p.Thr149=) c.330C>G (p.Thr110=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463519G= | CA1772814374 | CHRNA2 | c.924C= (p.Thr308=) c.*754C= (n.*754C=) c.879C= (p.Thr293=) n.290-1765C= c.858C= (p.Thr286=) c.*326C= (n.*326C=) c.447C= (p.Thr149=) c.330C= (p.Thr110=) | |
| 8 | g.27463519G>T | CA460186617 | CHRNA2 | c.924C>A (p.Thr308=) c.*754C>A (n.*754C>A) c.879C>A (p.Thr293=) n.290-1765C>A c.858C>A (p.Thr286=) c.*326C>A (n.*326C>A) c.447C>A (p.Thr149=) c.330C>A (p.Thr110=) | |
| 8 | g.27463520G>A | CA370810261 | CHRNA2 | c.923C>T (p.Thr308Ile) c.*753C>T (n.*753C>T) c.878C>T (p.Thr293Ile) n.290-1766C>T c.857C>T (p.Thr286Ile) c.*325C>T (n.*325C>T) c.446C>T (p.Thr149Ile) c.329C>T (p.Thr110Ile) | dbSNP |
| 8 | g.27463520G>C | CA370810260 | CHRNA2 | c.923C>G (p.Thr308Ser) c.*753C>G (n.*753C>G) c.878C>G (p.Thr293Ser) n.290-1766C>G c.857C>G (p.Thr286Ser) c.*325C>G (n.*325C>G) c.446C>G (p.Thr149Ser) c.329C>G (p.Thr110Ser) | |
| 8 | g.27463520G= | CA1772814377 | CHRNA2 | c.923C= (p.Thr308=) c.*753C= (n.*753C=) c.878C= (p.Thr293=) n.290-1766C= c.857C= (p.Thr286=) c.*325C= (n.*325C=) c.446C= (p.Thr149=) c.329C= (p.Thr110=) | |
| 8 | g.27463520G>T | CA370810258 | CHRNA2 | c.923C>A (p.Thr308Asn) c.*753C>A (n.*753C>A) c.878C>A (p.Thr293Asn) n.290-1766C>A c.857C>A (p.Thr286Asn) c.*325C>A (n.*325C>A) c.446C>A (p.Thr149Asn) c.329C>A (p.Thr110Asn) | |
| 8 | g.27463521T>A | CA370810262 | CHRNA2 | c.922A>T (p.Thr308Ser) c.*752A>T (n.*752A>T) c.877A>T (p.Thr293Ser) n.290-1767A>T c.856A>T (p.Thr286Ser) c.*324A>T (n.*324A>T) c.445A>T (p.Thr149Ser) c.328A>T (p.Thr110Ser) | |
| 8 | g.27463521T>C | CA370810264 | CHRNA2 | c.922A>G (p.Thr308Ala) c.*752A>G (n.*752A>G) c.877A>G (p.Thr293Ala) n.290-1767A>G c.856A>G (p.Thr286Ala) c.*324A>G (n.*324A>G) c.445A>G (p.Thr149Ala) c.328A>G (p.Thr110Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463521T>G | CA370810266 | CHRNA2 | c.922A>C (p.Thr308Pro) c.*752A>C (n.*752A>C) c.877A>C (p.Thr293Pro) n.290-1767A>C c.856A>C (p.Thr286Pro) c.*324A>C (n.*324A>C) c.445A>C (p.Thr149Pro) c.328A>C (p.Thr110Pro) | ClinVar dbSNP |
| 8 | g.27463521T= | CA1772814383 | CHRNA2 | c.922A= (p.Thr308=) c.*752A= (n.*752A=) c.877A= (p.Thr293=) n.290-1767A= c.856A= (p.Thr286=) c.*324A= (n.*324A=) c.445A= (p.Thr149=) c.328A= (p.Thr110=) | |
| 8 | g.27463522G>A | CA460186623 | CHRNA2 | c.921C>T (p.Leu307=) c.*751C>T (n.*751C>T) c.876C>T (p.Leu292=) n.290-1768C>T c.855C>T (p.Leu285=) c.*323C>T (n.*323C>T) c.444C>T (p.Leu148=) c.327C>T (p.Leu109=) | |
| 8 | g.27463522G>C | CA460186624 | CHRNA2 | c.921C>G (p.Leu307=) c.*751C>G (n.*751C>G) c.876C>G (p.Leu292=) n.290-1768C>G c.855C>G (p.Leu285=) c.*323C>G (n.*323C>G) c.444C>G (p.Leu148=) c.327C>G (p.Leu109=) | |
| 8 | g.27463522G>T | CA460186626 | CHRNA2 | c.921C>A (p.Leu307=) c.*751C>A (n.*751C>A) c.876C>A (p.Leu292=) n.290-1768C>A c.855C>A (p.Leu285=) c.*323C>A (n.*323C>A) c.444C>A (p.Leu148=) c.327C>A (p.Leu109=) | |
| 8 | g.27463523del | CA2686678229 | CHRNA2 | c.920del (p.Leu307ProfsTer30) c.*750del (n.*750del) c.875del (p.Leu292ProfsTer30) n.290-1769del c.854del (p.Leu285ProfsTer30) c.*322del (n.*322del) c.443del (p.Leu148ProfsTer30) c.326del (p.Leu109ProfsTer30) | gnomAD v4 |
| 8 | g.27463523A>C | CA370810268 | CHRNA2 | c.920T>G (p.Leu307Arg) c.*750T>G (n.*750T>G) c.875T>G (p.Leu292Arg) n.290-1769T>G c.854T>G (p.Leu285Arg) c.*322T>G (n.*322T>G) c.443T>G (p.Leu148Arg) c.326T>G (p.Leu109Arg) | |
| 8 | g.27463523A>G | CA370810269 | CHRNA2 | c.920T>C (p.Leu307Pro) c.*750T>C (n.*750T>C) c.875T>C (p.Leu292Pro) n.290-1769T>C c.854T>C (p.Leu285Pro) c.*322T>C (n.*322T>C) c.443T>C (p.Leu148Pro) c.326T>C (p.Leu109Pro) | |
| 8 | g.27463523A>T | CA370810270 | CHRNA2 | c.920T>A (p.Leu307His) c.*750T>A (n.*750T>A) c.875T>A (p.Leu292His) n.290-1769T>A c.854T>A (p.Leu285His) c.*322T>A (n.*322T>A) c.443T>A (p.Leu148His) c.326T>A (p.Leu109His) | |
| 8 | g.27463524G>A | CA370810272 | CHRNA2 | c.919C>T (p.Leu307Phe) c.*749C>T (n.*749C>T) c.874C>T (p.Leu292Phe) n.290-1770C>T c.853C>T (p.Leu285Phe) c.*321C>T (n.*321C>T) c.442C>T (p.Leu148Phe) c.325C>T (p.Leu109Phe) | COSMIC |
| 8 | g.27463524G>C | CA370810276 | CHRNA2 | c.919C>G (p.Leu307Val) c.*749C>G (n.*749C>G) c.874C>G (p.Leu292Val) n.290-1770C>G c.853C>G (p.Leu285Val) c.*321C>G (n.*321C>G) c.442C>G (p.Leu148Val) c.325C>G (p.Leu109Val) | |
| 8 | g.27463524G>T | CA370810274 | CHRNA2 | c.919C>A (p.Leu307Ile) c.*749C>A (n.*749C>A) c.874C>A (p.Leu292Ile) n.290-1770C>A c.853C>A (p.Leu285Ile) c.*321C>A (n.*321C>A) c.442C>A (p.Leu148Ile) c.325C>A (p.Leu109Ile) | |
| 8 | g.27463525T>A | CA174242066 | CHRNA2 | c.918A>T (p.Ser306=) c.*748A>T (n.*748A>T) c.873A>T (p.Ser291=) n.290-1771A>T c.852A>T (p.Ser284=) c.*320A>T (n.*320A>T) c.441A>T (p.Ser147=) c.324A>T (p.Ser108=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463525T>C | CA460186628 | CHRNA2 | c.918A>G (p.Ser306=) c.*748A>G (n.*748A>G) c.873A>G (p.Ser291=) n.290-1771A>G c.852A>G (p.Ser284=) c.*320A>G (n.*320A>G) c.441A>G (p.Ser147=) c.324A>G (p.Ser108=) | |
| 8 | g.27463525T>G | CA460186630 | CHRNA2 | c.918A>C (p.Ser306=) c.*748A>C (n.*748A>C) c.873A>C (p.Ser291=) n.290-1771A>C c.852A>C (p.Ser284=) c.*320A>C (n.*320A>C) c.441A>C (p.Ser147=) c.324A>C (p.Ser108=) | |
| 8 | g.27463525T= | CA1772814390 | CHRNA2 | c.918A= (p.Ser306=) c.*748A= (n.*748A=) c.873A= (p.Ser291=) n.290-1771A= c.852A= (p.Ser284=) c.*320A= (n.*320A=) c.441A= (p.Ser147=) c.324A= (p.Ser108=) | |
| 8 | g.27463525dup | CA2686678230 | CHRNA2 | c.918dup (p.Leu307ThrfsTer10) c.*748dup (n.*748dup) c.873dup (p.Leu292ThrfsTer10) n.290-1771dup c.852dup (p.Leu285ThrfsTer10) c.*320dup (n.*320dup) c.441dup (p.Leu148ThrfsTer10) c.324dup (p.Leu109ThrfsTer10) | gnomAD v4 |
| 8 | g.27463526G>A | CA370810278 | CHRNA2 | c.917C>T (p.Ser306Leu) c.*747C>T (n.*747C>T) c.872C>T (p.Ser291Leu) n.290-1772C>T c.851C>T (p.Ser284Leu) c.*319C>T (n.*319C>T) c.440C>T (p.Ser147Leu) c.323C>T (p.Ser108Leu) | |
| 8 | g.27463526G>C | CA370810280 | CHRNA2 | c.917C>G (p.Ser306Ter) c.*747C>G (n.*747C>G) c.872C>G (p.Ser291Ter) n.290-1772C>G c.851C>G (p.Ser284Ter) c.*319C>G (n.*319C>G) c.440C>G (p.Ser147Ter) c.323C>G (p.Ser108Ter) | gnomAD v4 |
| 8 | g.27463526G>T | CA370810281 | CHRNA2 | c.917C>A (p.Ser306Ter) c.*747C>A (n.*747C>A) c.872C>A (p.Ser291Ter) n.290-1772C>A c.851C>A (p.Ser284Ter) c.*319C>A (n.*319C>A) c.440C>A (p.Ser147Ter) c.323C>A (p.Ser108Ter) | |
| 8 | g.27463527A>C | CA370810283 | CHRNA2 | c.916T>G (p.Ser306Ala) c.*746T>G (n.*746T>G) c.871T>G (p.Ser291Ala) n.290-1773T>G c.850T>G (p.Ser284Ala) c.*318T>G (n.*318T>G) c.439T>G (p.Ser147Ala) c.322T>G (p.Ser108Ala) | |
| 8 | g.27463527A>G | CA370810284 | CHRNA2 | c.916T>C (p.Ser306Pro) c.*746T>C (n.*746T>C) c.871T>C (p.Ser291Pro) n.290-1773T>C c.850T>C (p.Ser284Pro) c.*318T>C (n.*318T>C) c.439T>C (p.Ser147Pro) c.322T>C (p.Ser108Pro) | |
| 8 | g.27463527A>T | CA370810285 | CHRNA2 | c.916T>A (p.Ser306Thr) c.*746T>A (n.*746T>A) c.871T>A (p.Ser291Thr) n.290-1773T>A c.850T>A (p.Ser284Thr) c.*318T>A (n.*318T>A) c.439T>A (p.Ser147Thr) c.322T>A (p.Ser108Thr) | |
| 8 | g.27463528C>A | CA460186632 | CHRNA2 | c.915G>T (p.Leu305=) c.*745G>T (n.*745G>T) c.870G>T (p.Leu290=) n.290-1774G>T c.849G>T (p.Leu283=) c.*317G>T (n.*317G>T) c.438G>T (p.Leu146=) c.321G>T (p.Leu107=) | |
| 8 | g.27463528C= | CA1772814393 | CHRNA2 | c.915G= (p.Leu305=) c.*745G= (n.*745G=) c.870G= (p.Leu290=) n.290-1774G= c.849G= (p.Leu283=) c.*317G= (n.*317G=) c.438G= (p.Leu146=) c.321G= (p.Leu107=) | |
| 8 | g.27463528C>G | CA460186633 | CHRNA2 | c.915G>C (p.Leu305=) c.*745G>C (n.*745G>C) c.870G>C (p.Leu290=) n.290-1774G>C c.849G>C (p.Leu283=) c.*317G>C (n.*317G>C) c.438G>C (p.Leu146=) c.321G>C (p.Leu107=) | |
| 8 | g.27463528C>T | CA460186634 | CHRNA2 | c.915G>A (p.Leu305=) c.*745G>A (n.*745G>A) c.870G>A (p.Leu290=) n.290-1774G>A c.849G>A (p.Leu283=) c.*317G>A (n.*317G>A) c.438G>A (p.Leu146=) c.321G>A (p.Leu107=) | ClinVar dbSNP |
| 8 | g.27463529A>C | CA370810286 | CHRNA2 | c.914T>G (p.Leu305Arg) c.*744T>G (n.*744T>G) c.869T>G (p.Leu290Arg) n.290-1775T>G c.848T>G (p.Leu283Arg) c.*316T>G (n.*316T>G) c.437T>G (p.Leu146Arg) c.320T>G (p.Leu107Arg) | |
| 8 | g.27463529A>G | CA370810287 | CHRNA2 | c.914T>C (p.Leu305Pro) c.*744T>C (n.*744T>C) c.869T>C (p.Leu290Pro) n.290-1775T>C c.848T>C (p.Leu283Pro) c.*316T>C (n.*316T>C) c.437T>C (p.Leu146Pro) c.320T>C (p.Leu107Pro) | |
| 8 | g.27463529A>T | CA370810288 | CHRNA2 | c.914T>A (p.Leu305Gln) c.*744T>A (n.*744T>A) c.869T>A (p.Leu290Gln) n.290-1775T>A c.848T>A (p.Leu283Gln) c.*316T>A (n.*316T>A) c.437T>A (p.Leu146Gln) c.320T>A (p.Leu107Gln) | |
| 8 | g.27463530G>A | CA288712 | CHRNA2 | c.913C>T (p.Leu305=) c.*743C>T (n.*743C>T) c.868C>T (p.Leu290=) n.290-1776C>T c.847C>T (p.Leu283=) c.*315C>T (n.*315C>T) c.436C>T (p.Leu146=) c.319C>T (p.Leu107=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463530G>C | CA370810289 | CHRNA2 | c.913C>G (p.Leu305Val) c.*743C>G (n.*743C>G) c.868C>G (p.Leu290Val) n.290-1776C>G c.847C>G (p.Leu283Val) c.*315C>G (n.*315C>G) c.436C>G (p.Leu146Val) c.319C>G (p.Leu107Val) | |
| 8 | g.27463530G= | CA1772814396 | CHRNA2 | c.913C= (p.Leu305=) c.*743C= (n.*743C=) c.868C= (p.Leu290=) n.290-1776C= c.847C= (p.Leu283=) c.*315C= (n.*315C=) c.436C= (p.Leu146=) c.319C= (p.Leu107=) | |
| 8 | g.27463530G>T | CA370810291 | CHRNA2 | c.913C>A (p.Leu305Met) c.*743C>A (n.*743C>A) c.868C>A (p.Leu290Met) n.290-1776C>A c.847C>A (p.Leu283Met) c.*315C>A (n.*315C>A) c.436C>A (p.Leu146Met) c.319C>A (p.Leu107Met) | |
| 8 | g.27463530_27463531delinsTT | CA2573142639 | CHRNA2 | c.912_913delinsAA (p.Leu305Met) c.*742_*743delinsAA (n.*742_*743delinsAA) c.867_868delinsAA (p.Leu290Met) n.290-1777_290-1776delinsAA c.846_847delinsAA (p.Leu283Met) c.*314_*315delinsAA (n.*314_*315delinsAA) c.435_436delinsAA (p.Leu146Met) c.318_319delinsAA (p.Leu107Met) | ClinVar dbSNP |
| 8 | g.27463531C>A | CA460186637 | CHRNA2 | c.912G>T (p.Leu304=) c.*742G>T (n.*742G>T) c.867G>T (p.Leu289=) n.290-1777G>T c.846G>T (p.Leu282=) c.*314G>T (n.*314G>T) c.435G>T (p.Leu145=) c.318G>T (p.Leu106=) | dbSNP |
| 8 | g.27463531C= | CA1772814400 | CHRNA2 | c.912G= (p.Leu304=) c.*742G= (n.*742G=) c.867G= (p.Leu289=) n.290-1777G= c.846G= (p.Leu282=) c.*314G= (n.*314G=) c.435G= (p.Leu145=) c.318G= (p.Leu106=) | |
| 8 | g.27463531C>G | CA460186638 | CHRNA2 | c.912G>C (p.Leu304=) c.*742G>C (n.*742G>C) c.867G>C (p.Leu289=) n.290-1777G>C c.846G>C (p.Leu282=) c.*314G>C (n.*314G>C) c.435G>C (p.Leu145=) c.318G>C (p.Leu106=) | |
| 8 | g.27463531C>T | CA460186640 | CHRNA2 | c.912G>A (p.Leu304=) c.*742G>A (n.*742G>A) c.867G>A (p.Leu289=) n.290-1777G>A c.846G>A (p.Leu282=) c.*314G>A (n.*314G>A) c.435G>A (p.Leu145=) c.318G>A (p.Leu106=) | |
| 8 | g.27463532A>C | CA370810294 | CHRNA2 | c.911T>G (p.Leu304Arg) c.*741T>G (n.*741T>G) c.866T>G (p.Leu289Arg) n.290-1778T>G c.845T>G (p.Leu282Arg) c.*313T>G (n.*313T>G) c.434T>G (p.Leu145Arg) c.317T>G (p.Leu106Arg) | |
| 8 | g.27463532A>G | CA370810295 | CHRNA2 | c.911T>C (p.Leu304Pro) c.*741T>C (n.*741T>C) c.866T>C (p.Leu289Pro) n.290-1778T>C c.845T>C (p.Leu282Pro) c.*313T>C (n.*313T>C) c.434T>C (p.Leu145Pro) c.317T>C (p.Leu106Pro) | |
| 8 | g.27463532A>T | CA370810292 | CHRNA2 | c.911T>A (p.Leu304Gln) c.*741T>A (n.*741T>A) c.866T>A (p.Leu289Gln) n.290-1778T>A c.845T>A (p.Leu282Gln) c.*313T>A (n.*313T>A) c.434T>A (p.Leu145Gln) c.317T>A (p.Leu106Gln) | |
| 8 | g.27463533G>A | CA4689573 | CHRNA2 | c.910C>T (p.Leu304=) c.*740C>T (n.*740C>T) c.865C>T (p.Leu289=) n.290-1779C>T c.844C>T (p.Leu282=) c.*312C>T (n.*312C>T) c.433C>T (p.Leu145=) c.316C>T (p.Leu106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463533G>C | CA370810296 | CHRNA2 | c.910C>G (p.Leu304Val) c.*740C>G (n.*740C>G) c.865C>G (p.Leu289Val) n.290-1779C>G c.844C>G (p.Leu282Val) c.*312C>G (n.*312C>G) c.433C>G (p.Leu145Val) c.316C>G (p.Leu106Val) | |
| 8 | g.27463533G= | CA1772814402 | CHRNA2 | c.910C= (p.Leu304=) c.*740C= (n.*740C=) c.865C= (p.Leu289=) n.290-1779C= c.844C= (p.Leu282=) c.*312C= (n.*312C=) c.433C= (p.Leu145=) c.316C= (p.Leu106=) | |
| 8 | g.27463533G>T | CA370810297 | CHRNA2 | c.910C>A (p.Leu304Met) c.*740C>A (n.*740C>A) c.865C>A (p.Leu289Met) n.290-1779C>A c.844C>A (p.Leu282Met) c.*312C>A (n.*312C>A) c.433C>A (p.Leu145Met) c.316C>A (p.Leu106Met) | |
| 8 | g.27463534C>A | CA460186643 | CHRNA2 | c.909G>T (p.Val303=) c.*739G>T (n.*739G>T) c.864G>T (p.Val288=) n.290-1780G>T c.843G>T (p.Val281=) c.*311G>T (n.*311G>T) c.432G>T (p.Val144=) c.315G>T (p.Val105=) | |
| 8 | g.27463534C>G | CA460186644 | CHRNA2 | c.909G>C (p.Val303=) c.*739G>C (n.*739G>C) c.864G>C (p.Val288=) n.290-1780G>C c.843G>C (p.Val281=) c.*311G>C (n.*311G>C) c.432G>C (p.Val144=) c.315G>C (p.Val105=) | |
| 8 | g.27463534C>T | CA460186645 | CHRNA2 | c.909G>A (p.Val303=) c.*739G>A (n.*739G>A) c.864G>A (p.Val288=) n.290-1780G>A c.843G>A (p.Val281=) c.*311G>A (n.*311G>A) c.432G>A (p.Val144=) c.315G>A (p.Val105=) | |
| 8 | g.27463535A>C | CA370810300 | CHRNA2 | c.908T>G (p.Val303Gly) c.*738T>G (n.*738T>G) c.863T>G (p.Val288Gly) n.290-1781T>G c.842T>G (p.Val281Gly) c.*310T>G (n.*310T>G) c.431T>G (p.Val144Gly) c.314T>G (p.Val105Gly) | |
| 8 | g.27463535A>G | CA370810302 | CHRNA2 | c.908T>C (p.Val303Ala) c.*738T>C (n.*738T>C) c.863T>C (p.Val288Ala) n.290-1781T>C c.842T>C (p.Val281Ala) c.*310T>C (n.*310T>C) c.431T>C (p.Val144Ala) c.314T>C (p.Val105Ala) | gnomAD v4 |
| 8 | g.27463535A>T | CA370810303 | CHRNA2 | c.908T>A (p.Val303Glu) c.*738T>A (n.*738T>A) c.863T>A (p.Val288Glu) n.290-1781T>A c.842T>A (p.Val281Glu) c.*310T>A (n.*310T>A) c.431T>A (p.Val144Glu) c.314T>A (p.Val105Glu) | |
| 8 | g.27463536C>A | CA370810304 | CHRNA2 | c.907G>T (p.Val303Leu) c.*737G>T (n.*737G>T) c.862G>T (p.Val288Leu) n.290-1782G>T c.841G>T (p.Val281Leu) c.*309G>T (n.*309G>T) c.430G>T (p.Val144Leu) c.313G>T (p.Val105Leu) | |
| 8 | g.27463536C>G | CA370810306 | CHRNA2 | c.907G>C (p.Val303Leu) c.*737G>C (n.*737G>C) c.862G>C (p.Val288Leu) n.290-1782G>C c.841G>C (p.Val281Leu) c.*309G>C (n.*309G>C) c.430G>C (p.Val144Leu) c.313G>C (p.Val105Leu) | ClinVar dbSNP |
| 8 | g.27463536C>T | CA370810308 | CHRNA2 | c.907G>A (p.Val303Met) c.*737G>A (n.*737G>A) c.862G>A (p.Val288Met) n.290-1782G>A c.841G>A (p.Val281Met) c.*309G>A (n.*309G>A) c.430G>A (p.Val144Met) c.313G>A (p.Val105Met) | ClinVar |
| 8 | g.27463537C>A | CA460186649 | CHRNA2 | c.906G>T (p.Ser302=) c.*736G>T (n.*736G>T) c.861G>T (p.Ser287=) n.290-1783G>T c.840G>T (p.Ser280=) c.*308G>T (n.*308G>T) c.429G>T (p.Ser143=) c.312G>T (p.Ser104=) | ClinVar dbSNP |
| 8 | g.27463537C= | CA1772814407 | CHRNA2 | c.906G= (p.Ser302=) c.*736G= (n.*736G=) c.861G= (p.Ser287=) n.290-1783G= c.840G= (p.Ser280=) c.*308G= (n.*308G=) c.429G= (p.Ser143=) c.312G= (p.Ser104=) | |
| 8 | g.27463537C>G | CA460186650 | CHRNA2 | c.906G>C (p.Ser302=) c.*736G>C (n.*736G>C) c.861G>C (p.Ser287=) n.290-1783G>C c.840G>C (p.Ser280=) c.*308G>C (n.*308G>C) c.429G>C (p.Ser143=) c.312G>C (p.Ser104=) | gnomAD v3 gnomAD v4 |
| 8 | g.27463537C>T | CA4689574 | CHRNA2 | c.906G>A (p.Ser302=) c.*736G>A (n.*736G>A) c.861G>A (p.Ser287=) n.290-1783G>A c.840G>A (p.Ser280=) c.*308G>A (n.*308G>A) c.429G>A (p.Ser143=) c.312G>A (p.Ser104=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463538G>A | CA4689575 | CHRNA2 | c.905C>T (p.Ser302Leu) c.*735C>T (n.*735C>T) c.860C>T (p.Ser287Leu) n.290-1784C>T c.839C>T (p.Ser280Leu) c.*307C>T (n.*307C>T) c.428C>T (p.Ser143Leu) c.311C>T (p.Ser104Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463538G>C | CA370810311 | CHRNA2 | c.905C>G (p.Ser302Trp) c.*735C>G (n.*735C>G) c.860C>G (p.Ser287Trp) n.290-1784C>G c.839C>G (p.Ser280Trp) c.*307C>G (n.*307C>G) c.428C>G (p.Ser143Trp) c.311C>G (p.Ser104Trp) | |
| 8 | g.27463538G= | CA1772814410 | CHRNA2 | c.905C= (p.Ser302=) c.*735C= (n.*735C=) c.860C= (p.Ser287=) n.290-1784C= c.839C= (p.Ser280=) c.*307C= (n.*307C=) c.428C= (p.Ser143=) c.311C= (p.Ser104=) | |
| 8 | g.27463538G>T | CA370810313 | CHRNA2 | c.905C>A (p.Ser302Ter) c.*735C>A (n.*735C>A) c.860C>A (p.Ser287Ter) n.290-1784C>A c.839C>A (p.Ser280Ter) c.*307C>A (n.*307C>A) c.428C>A (p.Ser143Ter) c.311C>A (p.Ser104Ter) | gnomAD v4 |
| 8 | g.27463539A>C | CA370810315 | CHRNA2 | c.904T>G (p.Ser302Ala) c.*734T>G (n.*734T>G) c.859T>G (p.Ser287Ala) n.290-1785T>G c.838T>G (p.Ser280Ala) c.*306T>G (n.*306T>G) c.427T>G (p.Ser143Ala) c.310T>G (p.Ser104Ala) | |
| 8 | g.27463539A>G | CA370810317 | CHRNA2 | c.904T>C (p.Ser302Pro) c.*734T>C (n.*734T>C) c.859T>C (p.Ser287Pro) n.290-1785T>C c.838T>C (p.Ser280Pro) c.*306T>C (n.*306T>C) c.427T>C (p.Ser143Pro) c.310T>C (p.Ser104Pro) | |
| 8 | g.27463539A>T | CA370810314 | CHRNA2 | c.904T>A (p.Ser302Thr) c.*734T>A (n.*734T>A) c.859T>A (p.Ser287Thr) n.290-1785T>A c.838T>A (p.Ser280Thr) c.*306T>A (n.*306T>A) c.427T>A (p.Ser143Thr) c.310T>A (p.Ser104Thr) | |
| 8 | g.27463540A= | CA1772814412 | CHRNA2 | c.903T= (p.Ile301=) c.*733T= (n.*733T=) c.858T= (p.Ile286=) n.290-1786T= c.837T= (p.Ile279=) c.*305T= (n.*305T=) c.426T= (p.Ile142=) c.309T= (p.Ile103=) | |
| 8 | g.27463540A>C | CA370810319 | CHRNA2 | c.903T>G (p.Ile301Met) c.*733T>G (n.*733T>G) c.858T>G (p.Ile286Met) n.290-1786T>G c.837T>G (p.Ile279Met) c.*305T>G (n.*305T>G) c.426T>G (p.Ile142Met) c.309T>G (p.Ile103Met) | dbSNP |
| 8 | g.27463540A>G | CA460186655 | CHRNA2 | c.903T>C (p.Ile301=) c.*733T>C (n.*733T>C) c.858T>C (p.Ile286=) n.290-1786T>C c.837T>C (p.Ile279=) c.*305T>C (n.*305T>C) c.426T>C (p.Ile142=) c.309T>C (p.Ile103=) | |
| 8 | g.27463540A>T | CA460186654 | CHRNA2 | c.903T>A (p.Ile301=) c.*733T>A (n.*733T>A) c.858T>A (p.Ile286=) n.290-1786T>A c.837T>A (p.Ile279=) c.*305T>A (n.*305T>A) c.426T>A (p.Ile142=) c.309T>A (p.Ile103=) | |
| 8 | g.27463541A>C | CA370810321 | CHRNA2 | c.902T>G (p.Ile301Ser) c.*732T>G (n.*732T>G) c.857T>G (p.Ile286Ser) n.290-1787T>G c.836T>G (p.Ile279Ser) c.*304T>G (n.*304T>G) c.425T>G (p.Ile142Ser) c.308T>G (p.Ile103Ser) | |
| 8 | g.27463541A>G | CA370810323 | CHRNA2 | c.902T>C (p.Ile301Thr) c.*732T>C (n.*732T>C) c.857T>C (p.Ile286Thr) n.290-1787T>C c.836T>C (p.Ile279Thr) c.*304T>C (n.*304T>C) c.425T>C (p.Ile142Thr) c.308T>C (p.Ile103Thr) | |
| 8 | g.27463541A>T | CA370810324 | CHRNA2 | c.902T>A (p.Ile301Asn) c.*732T>A (n.*732T>A) c.857T>A (p.Ile286Asn) n.290-1787T>A c.836T>A (p.Ile279Asn) c.*304T>A (n.*304T>A) c.425T>A (p.Ile142Asn) c.308T>A (p.Ile103Asn) | |
| 8 | g.27463542T>A | CA370810328 | CHRNA2 | c.901A>T (p.Ile301Phe) c.*731A>T (n.*731A>T) c.856A>T (p.Ile286Phe) n.290-1788A>T c.835A>T (p.Ile279Phe) c.*303A>T (n.*303A>T) c.424A>T (p.Ile142Phe) c.307A>T (p.Ile103Phe) | |
| 8 | g.27463542T>C | CA370810327 | CHRNA2 | c.901A>G (p.Ile301Val) c.*731A>G (n.*731A>G) c.856A>G (p.Ile286Val) n.290-1788A>G c.835A>G (p.Ile279Val) c.*303A>G (n.*303A>G) c.424A>G (p.Ile142Val) c.307A>G (p.Ile103Val) | gnomAD v4 |
| 8 | g.27463542T>G | CA370810326 | CHRNA2 | c.901A>C (p.Ile301Leu) c.*731A>C (n.*731A>C) c.856A>C (p.Ile286Leu) n.290-1788A>C c.835A>C (p.Ile279Leu) c.*303A>C (n.*303A>C) c.424A>C (p.Ile142Leu) c.307A>C (p.Ile103Leu) | |
| 8 | g.27463543G>A | CA4689576 | CHRNA2 | c.900C>T (p.Cys300=) c.*730C>T (n.*730C>T) c.855C>T (p.Cys285=) n.290-1789C>T c.834C>T (p.Cys278=) c.*302C>T (n.*302C>T) c.423C>T (p.Cys141=) c.306C>T (p.Cys102=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463543G>C | CA370810331 | CHRNA2 | c.900C>G (p.Cys300Trp) c.*730C>G (n.*730C>G) c.855C>G (p.Cys285Trp) n.290-1789C>G c.834C>G (p.Cys278Trp) c.*302C>G (n.*302C>G) c.423C>G (p.Cys141Trp) c.306C>G (p.Cys102Trp) | |
| 8 | g.27463543G= | CA1772814415 | CHRNA2 | c.900C= (p.Cys300=) c.*730C= (n.*730C=) c.855C= (p.Cys285=) n.290-1789C= c.834C= (p.Cys278=) c.*302C= (n.*302C=) c.423C= (p.Cys141=) c.306C= (p.Cys102=) | |
| 8 | g.27463543G>T | CA370810332 | CHRNA2 | c.900C>A (p.Cys300Ter) c.*730C>A (n.*730C>A) c.855C>A (p.Cys285Ter) n.290-1789C>A c.834C>A (p.Cys278Ter) c.*302C>A (n.*302C>A) c.423C>A (p.Cys141Ter) c.306C>A (p.Cys102Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463544C>A | CA370810334 | CHRNA2 | c.899G>T (p.Cys300Phe) c.*729G>T (n.*729G>T) c.854G>T (p.Cys285Phe) n.290-1790G>T c.833G>T (p.Cys278Phe) c.*301G>T (n.*301G>T) c.422G>T (p.Cys141Phe) c.305G>T (p.Cys102Phe) | |
| 8 | g.27463544C>G | CA370810335 | CHRNA2 | c.899G>C (p.Cys300Ser) c.*729G>C (n.*729G>C) c.854G>C (p.Cys285Ser) n.290-1790G>C c.833G>C (p.Cys278Ser) c.*301G>C (n.*301G>C) c.422G>C (p.Cys141Ser) c.305G>C (p.Cys102Ser) | |
| 8 | g.27463544C>T | CA370810336 | CHRNA2 | c.899G>A (p.Cys300Tyr) c.*729G>A (n.*729G>A) c.854G>A (p.Cys285Tyr) n.290-1790G>A c.833G>A (p.Cys278Tyr) c.*301G>A (n.*301G>A) c.422G>A (p.Cys141Tyr) c.305G>A (p.Cys102Tyr) | |
| 8 | g.27463545A>C | CA370810342 | CHRNA2 | c.898T>G (p.Cys300Gly) c.*728T>G (n.*728T>G) c.853T>G (p.Cys285Gly) n.290-1791T>G c.832T>G (p.Cys278Gly) c.*300T>G (n.*300T>G) c.421T>G (p.Cys141Gly) c.304T>G (p.Cys102Gly) | |
| 8 | g.27463545A>G | CA370810340 | CHRNA2 | c.898T>C (p.Cys300Arg) c.*728T>C (n.*728T>C) c.853T>C (p.Cys285Arg) n.290-1791T>C c.832T>C (p.Cys278Arg) c.*300T>C (n.*300T>C) c.421T>C (p.Cys141Arg) c.304T>C (p.Cys102Arg) | gnomAD v4 |
| 8 | g.27463545A>T | CA370810339 | CHRNA2 | c.898T>A (p.Cys300Ser) c.*728T>A (n.*728T>A) c.853T>A (p.Cys285Ser) n.290-1791T>A c.832T>A (p.Cys278Ser) c.*300T>A (n.*300T>A) c.421T>A (p.Cys141Ser) c.304T>A (p.Cys102Ser) | |
| 8 | g.27463546C>A | CA460186661 | CHRNA2 | c.897G>T (p.Leu299=) c.*727G>T (n.*727G>T) c.852G>T (p.Leu284=) n.290-1792G>T c.831G>T (p.Leu277=) c.*299G>T (n.*299G>T) c.420G>T (p.Leu140=) c.303G>T (p.Leu101=) | |
| 8 | g.27463546C>G | CA460186663 | CHRNA2 | c.897G>C (p.Leu299=) c.*727G>C (n.*727G>C) c.852G>C (p.Leu284=) n.290-1792G>C c.831G>C (p.Leu277=) c.*299G>C (n.*299G>C) c.420G>C (p.Leu140=) c.303G>C (p.Leu101=) | |
| 8 | g.27463546C>T | CA460186662 | CHRNA2 | c.897G>A (p.Leu299=) c.*727G>A (n.*727G>A) c.852G>A (p.Leu284=) n.290-1792G>A c.831G>A (p.Leu277=) c.*299G>A (n.*299G>A) c.420G>A (p.Leu140=) c.303G>A (p.Leu101=) | |
| 8 | g.27463547A= | CA1772814419 | CHRNA2 | c.896T= (p.Leu299=) c.*726T= (n.*726T=) c.851T= (p.Leu284=) n.290-1793T= c.830T= (p.Leu277=) c.*298T= (n.*298T=) c.419T= (p.Leu140=) c.302T= (p.Leu101=) | |
| 8 | g.27463547A>C | CA4689577 | CHRNA2 | c.896T>G (p.Leu299Arg) c.*726T>G (n.*726T>G) c.851T>G (p.Leu284Arg) n.290-1793T>G c.830T>G (p.Leu277Arg) c.*298T>G (n.*298T>G) c.419T>G (p.Leu140Arg) c.302T>G (p.Leu101Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463547A>G | CA370810344 | CHRNA2 | c.896T>C (p.Leu299Pro) c.*726T>C (n.*726T>C) c.851T>C (p.Leu284Pro) n.290-1793T>C c.830T>C (p.Leu277Pro) c.*298T>C (n.*298T>C) c.419T>C (p.Leu140Pro) c.302T>C (p.Leu101Pro) | |
| 8 | g.27463547A>T | CA370810346 | CHRNA2 | c.896T>A (p.Leu299Gln) c.*726T>A (n.*726T>A) c.851T>A (p.Leu284Gln) n.290-1793T>A c.830T>A (p.Leu277Gln) c.*298T>A (n.*298T>A) c.419T>A (p.Leu140Gln) c.302T>A (p.Leu101Gln) | |
| 8 | g.27463548G>A | CA460186665 | CHRNA2 | c.895C>T (p.Leu299=) c.*725C>T (n.*725C>T) c.850C>T (p.Leu284=) n.290-1794C>T c.829C>T (p.Leu277=) c.*297C>T (n.*297C>T) c.418C>T (p.Leu140=) c.301C>T (p.Leu101=) | dbSNP COSMIC |
| 8 | g.27463548G>C | CA370810348 | CHRNA2 | c.895C>G (p.Leu299Val) c.*725C>G (n.*725C>G) c.850C>G (p.Leu284Val) n.290-1794C>G c.829C>G (p.Leu277Val) c.*297C>G (n.*297C>G) c.418C>G (p.Leu140Val) c.301C>G (p.Leu101Val) | |
| 8 | g.27463548G= | CA1772814422 | CHRNA2 | c.895C= (p.Leu299=) c.*725C= (n.*725C=) c.850C= (p.Leu284=) n.290-1794C= c.829C= (p.Leu277=) c.*297C= (n.*297C=) c.418C= (p.Leu140=) c.301C= (p.Leu101=) | |
| 8 | g.27463548G>T | CA370810349 | CHRNA2 | c.895C>A (p.Leu299Met) c.*725C>A (n.*725C>A) c.850C>A (p.Leu284Met) n.290-1794C>A c.829C>A (p.Leu277Met) c.*297C>A (n.*297C>A) c.418C>A (p.Leu140Met) c.301C>A (p.Leu101Met) | |
| 8 | g.27463549C>A | CA460186667 | CHRNA2 | c.894G>T (p.Thr298=) c.*724G>T (n.*724G>T) c.849G>T (p.Thr283=) n.290-1795G>T c.828G>T (p.Thr276=) c.*296G>T (n.*296G>T) c.417G>T (p.Thr139=) c.300G>T (p.Thr100=) | |
| 8 | g.27463549C= | CA1772814426 | CHRNA2 | c.894G= (p.Thr298=) c.*724G= (n.*724G=) c.849G= (p.Thr283=) n.290-1795G= c.828G= (p.Thr276=) c.*296G= (n.*296G=) c.417G= (p.Thr139=) c.300G= (p.Thr100=) | |
| 8 | g.27463549C>G | CA460186668 | CHRNA2 | c.894G>C (p.Thr298=) c.*724G>C (n.*724G>C) c.849G>C (p.Thr283=) n.290-1795G>C c.828G>C (p.Thr276=) c.*296G>C (n.*296G>C) c.417G>C (p.Thr139=) c.300G>C (p.Thr100=) | ClinVar gnomAD v4 |
| 8 | g.27463549C>T | CA460186670 | CHRNA2 | c.894G>A (p.Thr298=) c.*724G>A (n.*724G>A) c.849G>A (p.Thr283=) n.290-1795G>A c.828G>A (p.Thr276=) c.*296G>A (n.*296G>A) c.417G>A (p.Thr139=) c.300G>A (p.Thr100=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27463550G>A | CA4689578 | CHRNA2 | c.893C>T (p.Thr298Met) c.*723C>T (n.*723C>T) c.848C>T (p.Thr283Met) n.290-1796C>T c.827C>T (p.Thr276Met) c.*295C>T (n.*295C>T) c.416C>T (p.Thr139Met) c.299C>T (p.Thr100Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463550G>C | CA370810352 | CHRNA2 | c.893C>G (p.Thr298Arg) c.*723C>G (n.*723C>G) c.848C>G (p.Thr283Arg) n.290-1796C>G c.827C>G (p.Thr276Arg) c.*295C>G (n.*295C>G) c.416C>G (p.Thr139Arg) c.299C>G (p.Thr100Arg) | COSMIC |
| 8 | g.27463550G= | CA1772814430 | CHRNA2 | c.893C= (p.Thr298=) c.*723C= (n.*723C=) c.848C= (p.Thr283=) n.290-1796C= c.827C= (p.Thr276=) c.*295C= (n.*295C=) c.416C= (p.Thr139=) c.299C= (p.Thr100=) | |
| 8 | g.27463550G>T | CA370810353 | CHRNA2 | c.893C>A (p.Thr298Lys) c.*723C>A (n.*723C>A) c.848C>A (p.Thr283Lys) n.290-1796C>A c.827C>A (p.Thr276Lys) c.*295C>A (n.*295C>A) c.416C>A (p.Thr139Lys) c.299C>A (p.Thr100Lys) | |
| 8 | g.27463551T>A | CA370810355 | CHRNA2 | c.892A>T (p.Thr298Ser) c.*722A>T (n.*722A>T) c.847A>T (p.Thr283Ser) n.290-1797A>T c.826A>T (p.Thr276Ser) c.*294A>T (n.*294A>T) c.415A>T (p.Thr139Ser) c.298A>T (p.Thr100Ser) | |
| 8 | g.27463551T>C | CA4689579 | CHRNA2 | c.892A>G (p.Thr298Ala) c.*722A>G (n.*722A>G) c.847A>G (p.Thr283Ala) n.290-1797A>G c.826A>G (p.Thr276Ala) c.*294A>G (n.*294A>G) c.415A>G (p.Thr139Ala) c.298A>G (p.Thr100Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463551T>G | CA370810357 | CHRNA2 | c.892A>C (p.Thr298Pro) c.*722A>C (n.*722A>C) c.847A>C (p.Thr283Pro) n.290-1797A>C c.826A>C (p.Thr276Pro) c.*294A>C (n.*294A>C) c.415A>C (p.Thr139Pro) c.298A>C (p.Thr100Pro) | |
| 8 | g.27463551T= | CA1772814431 | CHRNA2 | c.892A= (p.Thr298=) c.*722A= (n.*722A=) c.847A= (p.Thr283=) n.290-1797A= c.826A= (p.Thr276=) c.*294A= (n.*294A=) c.415A= (p.Thr139=) c.298A= (p.Thr100=) | |
| 8 | g.27463552G>A | CA460186675 | CHRNA2 | c.891C>T (p.Ile297=) c.*721C>T (n.*721C>T) c.846C>T (p.Ile282=) n.290-1798C>T c.825C>T (p.Ile275=) c.*293C>T (n.*293C>T) c.414C>T (p.Ile138=) c.297C>T (p.Ile99=) | gnomAD v4 |
| 8 | g.27463552G>C | CA370810359 | CHRNA2 | c.891C>G (p.Ile297Met) c.*721C>G (n.*721C>G) c.846C>G (p.Ile282Met) n.290-1798C>G c.825C>G (p.Ile275Met) c.*293C>G (n.*293C>G) c.414C>G (p.Ile138Met) c.297C>G (p.Ile99Met) | gnomAD v4 |
| 8 | g.27463552G>T | CA460186676 | CHRNA2 | c.891C>A (p.Ile297=) c.*721C>A (n.*721C>A) c.846C>A (p.Ile282=) n.290-1798C>A c.825C>A (p.Ile275=) c.*293C>A (n.*293C>A) c.414C>A (p.Ile138=) c.297C>A (p.Ile99=) | |
| 8 | g.27463553A= | CA1772814434 | CHRNA2 | c.890T= (p.Ile297=) c.*720T= (n.*720T=) c.845T= (p.Ile282=) n.290-1799T= c.824T= (p.Ile275=) c.*292T= (n.*292T=) c.413T= (p.Ile138=) c.296T= (p.Ile99=) | |
| 8 | g.27463553A>C | CA370810362 | CHRNA2 | c.890T>G (p.Ile297Ser) c.*720T>G (n.*720T>G) c.845T>G (p.Ile282Ser) n.290-1799T>G c.824T>G (p.Ile275Ser) c.*292T>G (n.*292T>G) c.413T>G (p.Ile138Ser) c.296T>G (p.Ile99Ser) | |
| 8 | g.27463553A>G | CA4689580 | CHRNA2 | c.890T>C (p.Ile297Thr) c.*720T>C (n.*720T>C) c.845T>C (p.Ile282Thr) n.290-1799T>C c.824T>C (p.Ile275Thr) c.*292T>C (n.*292T>C) c.413T>C (p.Ile138Thr) c.296T>C (p.Ile99Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463553A>T | CA370810361 | CHRNA2 | c.890T>A (p.Ile297Asn) c.*720T>A (n.*720T>A) c.845T>A (p.Ile282Asn) n.290-1799T>A c.824T>A (p.Ile275Asn) c.*292T>A (n.*292T>A) c.413T>A (p.Ile138Asn) c.296T>A (p.Ile99Asn) | |
| 8 | g.27463553_27463556delinsATCT | CA1772814435 | CHRNA2 | c.887_890delinsAGAT (p.Lys296=) c.*717_*720delinsAGAT (n.*717_*720delinsAGAT) c.842_845delinsAGAT (p.Lys281=) n.290-1802_290-1799delinsAGAT c.821_824delinsAGAT (p.Lys274=) c.*289_*292delinsAGAT (n.*289_*292delinsAGAT) c.410_413delinsAGAT (p.Lys137=) c.293_296delinsAGAT (p.Lys98=) | |
| 8 | g.27463554T>A | CA370810365 | CHRNA2 | c.889A>T (p.Ile297Phe) c.*719A>T (n.*719A>T) c.844A>T (p.Ile282Phe) n.290-1800A>T c.823A>T (p.Ile275Phe) c.*291A>T (n.*291A>T) c.412A>T (p.Ile138Phe) c.295A>T (p.Ile99Phe) | ClinVar dbSNP |
| 8 | g.27463554T>C | CA370810367 | CHRNA2 | c.889A>G (p.Ile297Val) c.*719A>G (n.*719A>G) c.844A>G (p.Ile282Val) n.290-1800A>G c.823A>G (p.Ile275Val) c.*291A>G (n.*291A>G) c.412A>G (p.Ile138Val) c.295A>G (p.Ile99Val) | |
| 8 | g.27463554T>G | CA370810368 | CHRNA2 | c.889A>C (p.Ile297Leu) c.*719A>C (n.*719A>C) c.844A>C (p.Ile282Leu) n.290-1800A>C c.823A>C (p.Ile275Leu) c.*291A>C (n.*291A>C) c.412A>C (p.Ile138Leu) c.295A>C (p.Ile99Leu) | |
| 8 | g.27463554T= | CA1772814439 | CHRNA2 | c.889A= (p.Ile297=) c.*719A= (n.*719A=) c.844A= (p.Ile282=) n.290-1800A= c.823A= (p.Ile275=) c.*291A= (n.*291A=) c.412A= (p.Ile138=) c.295A= (p.Ile99=) | |
| 8 | g.27463557_27463559del | CA313492 | CHRNA2 | c.887_889del (p.Lys296del) c.*717_*719del (n.*717_*719del) c.842_844del (p.Lys281del) n.290-1802_290-1800del c.821_823del (p.Lys274del) c.*289_*291del (n.*289_*291del) c.410_412del (p.Lys137del) c.293_295del (p.Lys98del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463555C>A | CA370810371 | CHRNA2 | c.888G>T (p.Lys296Asn) c.*718G>T (n.*718G>T) c.843G>T (p.Lys281Asn) n.290-1801G>T c.822G>T (p.Lys274Asn) c.*290G>T (n.*290G>T) c.411G>T (p.Lys137Asn) c.294G>T (p.Lys98Asn) | |
| 8 | g.27463555C= | CA1772814443 | CHRNA2 | c.888G= (p.Lys296=) c.*718G= (n.*718G=) c.843G= (p.Lys281=) n.290-1801G= c.822G= (p.Lys274=) c.*290G= (n.*290G=) c.411G= (p.Lys137=) c.294G= (p.Lys98=) | |
| 8 | g.27463555C>G | CA4689581 | CHRNA2 | c.888G>C (p.Lys296Asn) c.*718G>C (n.*718G>C) c.843G>C (p.Lys281Asn) n.290-1801G>C c.822G>C (p.Lys274Asn) c.*290G>C (n.*290G>C) c.411G>C (p.Lys137Asn) c.294G>C (p.Lys98Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463555C>T | CA460186681 | CHRNA2 | c.888G>A (p.Lys296=) c.*718G>A (n.*718G>A) c.843G>A (p.Lys281=) n.290-1801G>A c.822G>A (p.Lys274=) c.*290G>A (n.*290G>A) c.411G>A (p.Lys137=) c.294G>A (p.Lys98=) | |
| 8 | g.27463556T>A | CA370810372 | CHRNA2 | c.887A>T (p.Lys296Met) c.*717A>T (n.*717A>T) c.842A>T (p.Lys281Met) n.290-1802A>T c.821A>T (p.Lys274Met) c.*289A>T (n.*289A>T) c.410A>T (p.Lys137Met) c.293A>T (p.Lys98Met) | |
| 8 | g.27463556T>C | CA370810375 | CHRNA2 | c.887A>G (p.Lys296Arg) c.*717A>G (n.*717A>G) c.842A>G (p.Lys281Arg) n.290-1802A>G c.821A>G (p.Lys274Arg) c.*289A>G (n.*289A>G) c.410A>G (p.Lys137Arg) c.293A>G (p.Lys98Arg) | dbSNP |
| 8 | g.27463556T>G | CA370810373 | CHRNA2 | c.887A>C (p.Lys296Thr) c.*717A>C (n.*717A>C) c.842A>C (p.Lys281Thr) n.290-1802A>C c.821A>C (p.Lys274Thr) c.*289A>C (n.*289A>C) c.410A>C (p.Lys137Thr) c.293A>C (p.Lys98Thr) | |
| 8 | g.27463556T= | CA1772814444 | CHRNA2 | c.887A= (p.Lys296=) c.*717A= (n.*717A=) c.842A= (p.Lys281=) n.290-1802A= c.821A= (p.Lys274=) c.*289A= (n.*289A=) c.410A= (p.Lys137=) c.293A= (p.Lys98=) | |
| 8 | g.27463557T>A | CA370810378 | CHRNA2 | c.886A>T (p.Lys296Ter) c.*716A>T (n.*716A>T) c.841A>T (p.Lys281Ter) n.290-1803A>T c.820A>T (p.Lys274Ter) c.*288A>T (n.*288A>T) c.409A>T (p.Lys137Ter) c.292A>T (p.Lys98Ter) | |
| 8 | g.27463557T>C | CA370810379 | CHRNA2 | c.886A>G (p.Lys296Glu) c.*716A>G (n.*716A>G) c.841A>G (p.Lys281Glu) n.290-1803A>G c.820A>G (p.Lys274Glu) c.*288A>G (n.*288A>G) c.409A>G (p.Lys137Glu) c.292A>G (p.Lys98Glu) | |
| 8 | g.27463557T>G | CA370810380 | CHRNA2 | c.886A>C (p.Lys296Gln) c.*716A>C (n.*716A>C) c.841A>C (p.Lys281Gln) n.290-1803A>C c.820A>C (p.Lys274Gln) c.*288A>C (n.*288A>C) c.409A>C (p.Lys137Gln) c.292A>C (p.Lys98Gln) | |
| 8 | g.27463558C>A | CA370810382 | CHRNA2 | c.885G>T (p.Glu295Asp) c.*715G>T (n.*715G>T) c.840G>T (p.Glu280Asp) n.290-1804G>T c.819G>T (p.Glu273Asp) c.*287G>T (n.*287G>T) c.408G>T (p.Glu136Asp) c.291G>T (p.Glu97Asp) | |
| 8 | g.27463558C>G | CA370810383 | CHRNA2 | c.885G>C (p.Glu295Asp) c.*715G>C (n.*715G>C) c.840G>C (p.Glu280Asp) n.290-1804G>C c.819G>C (p.Glu273Asp) c.*287G>C (n.*287G>C) c.408G>C (p.Glu136Asp) c.291G>C (p.Glu97Asp) | |
| 8 | g.27463558C>T | CA460186686 | CHRNA2 | c.885G>A (p.Glu295=) c.*715G>A (n.*715G>A) c.840G>A (p.Glu280=) n.290-1804G>A c.819G>A (p.Glu273=) c.*287G>A (n.*287G>A) c.408G>A (p.Glu136=) c.291G>A (p.Glu97=) | |
| 8 | g.27463559T>A | CA370810387 | CHRNA2 | c.884A>T (p.Glu295Val) c.*714A>T (n.*714A>T) c.839A>T (p.Glu280Val) n.290-1805A>T c.818A>T (p.Glu273Val) c.*286A>T (n.*286A>T) c.407A>T (p.Glu136Val) c.290A>T (p.Glu97Val) | |
| 8 | g.27463559T>C | CA370810388 | CHRNA2 | c.884A>G (p.Glu295Gly) c.*714A>G (n.*714A>G) c.839A>G (p.Glu280Gly) n.290-1805A>G c.818A>G (p.Glu273Gly) c.*286A>G (n.*286A>G) c.407A>G (p.Glu136Gly) c.290A>G (p.Glu97Gly) | gnomAD v4 |
| 8 | g.27463559T>G | CA370810385 | CHRNA2 | c.884A>C (p.Glu295Ala) c.*714A>C (n.*714A>C) c.839A>C (p.Glu280Ala) n.290-1805A>C c.818A>C (p.Glu273Ala) c.*286A>C (n.*286A>C) c.407A>C (p.Glu136Ala) c.290A>C (p.Glu97Ala) | |
| 8 | g.27463560C>A | CA370810389 | CHRNA2 | c.883G>T (p.Glu295Ter) c.*713G>T (n.*713G>T) c.838G>T (p.Glu280Ter) n.290-1806G>T c.817G>T (p.Glu273Ter) c.*285G>T (n.*285G>T) c.406G>T (p.Glu136Ter) c.289G>T (p.Glu97Ter) | |
| 8 | g.27463560C= | CA1772814445 | CHRNA2 | c.883G= (p.Glu295=) c.*713G= (n.*713G=) c.838G= (p.Glu280=) n.290-1806G= c.817G= (p.Glu273=) c.*285G= (n.*285G=) c.406G= (p.Glu136=) c.289G= (p.Glu97=) | |
| 8 | g.27463560C>G | CA370810390 | CHRNA2 | c.883G>C (p.Glu295Gln) c.*713G>C (n.*713G>C) c.838G>C (p.Glu280Gln) n.290-1806G>C c.817G>C (p.Glu273Gln) c.*285G>C (n.*285G>C) c.406G>C (p.Glu136Gln) c.289G>C (p.Glu97Gln) | |
| 8 | g.27463560C>T | CA4689582 | CHRNA2 | c.883G>A (p.Glu295Lys) c.*713G>A (n.*713G>A) c.838G>A (p.Glu280Lys) n.290-1806G>A c.817G>A (p.Glu273Lys) c.*285G>A (n.*285G>A) c.406G>A (p.Glu136Lys) c.289G>A (p.Glu97Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463561G>A | CA4689583 | CHRNA2 | c.882C>T (p.Gly294=) c.*712C>T (n.*712C>T) c.837C>T (p.Gly279=) n.290-1807C>T c.816C>T (p.Gly272=) c.*284C>T (n.*284C>T) c.405C>T (p.Gly135=) c.288C>T (p.Gly96=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463561G>C | CA460186689 | CHRNA2 | c.882C>G (p.Gly294=) c.*712C>G (n.*712C>G) c.837C>G (p.Gly279=) n.290-1807C>G c.816C>G (p.Gly272=) c.*284C>G (n.*284C>G) c.405C>G (p.Gly135=) c.288C>G (p.Gly96=) | |
| 8 | g.27463561G= | CA1772814447 | CHRNA2 | c.882C= (p.Gly294=) c.*712C= (n.*712C=) c.837C= (p.Gly279=) n.290-1807C= c.816C= (p.Gly272=) c.*284C= (n.*284C=) c.405C= (p.Gly135=) c.288C= (p.Gly96=) | |
| 8 | g.27463561G>T | CA460186690 | CHRNA2 | c.882C>A (p.Gly294=) c.*712C>A (n.*712C>A) c.837C>A (p.Gly279=) n.290-1807C>A c.816C>A (p.Gly272=) c.*284C>A (n.*284C>A) c.405C>A (p.Gly135=) c.288C>A (p.Gly96=) | COSMIC |
| 8 | g.27463562C>A | CA370810392 | CHRNA2 | c.881G>T (p.Gly294Val) c.*711G>T (n.*711G>T) c.836G>T (p.Gly279Val) n.290-1808G>T c.815G>T (p.Gly272Val) c.*283G>T (n.*283G>T) c.404G>T (p.Gly135Val) c.287G>T (p.Gly96Val) | |
| 8 | g.27463562C>G | CA370810391 | CHRNA2 | c.881G>C (p.Gly294Ala) c.*711G>C (n.*711G>C) c.836G>C (p.Gly279Ala) n.290-1808G>C c.815G>C (p.Gly272Ala) c.*283G>C (n.*283G>C) c.404G>C (p.Gly135Ala) c.287G>C (p.Gly96Ala) | |
| 8 | g.27463562C>T | CA370810393 | CHRNA2 | c.881G>A (p.Gly294Asp) c.*711G>A (n.*711G>A) c.836G>A (p.Gly279Asp) n.290-1808G>A c.815G>A (p.Gly272Asp) c.*283G>A (n.*283G>A) c.404G>A (p.Gly135Asp) c.287G>A (p.Gly96Asp) | ClinVar |
| 8 | g.27463563C>A | CA370810395 | CHRNA2 | c.880G>T (p.Gly294Cys) c.*710G>T (n.*710G>T) c.835G>T (p.Gly279Cys) n.290-1809G>T c.814G>T (p.Gly272Cys) c.*282G>T (n.*282G>T) c.403G>T (p.Gly135Cys) c.286G>T (p.Gly96Cys) | |
| 8 | g.27463563C= | CA1772814452 | CHRNA2 | c.880G= (p.Gly294=) c.*710G= (n.*710G=) c.835G= (p.Gly279=) n.290-1809G= c.814G= (p.Gly272=) c.*282G= (n.*282G=) c.403G= (p.Gly135=) c.286G= (p.Gly96=) | |
| 8 | g.27463563C>G | CA370810396 | CHRNA2 | c.880G>C (p.Gly294Arg) c.*710G>C (n.*710G>C) c.835G>C (p.Gly279Arg) n.290-1809G>C c.814G>C (p.Gly272Arg) c.*282G>C (n.*282G>C) c.403G>C (p.Gly135Arg) c.286G>C (p.Gly96Arg) | |
| 8 | g.27463563C>T | CA174242156 | CHRNA2 | c.880G>A (p.Gly294Ser) c.*710G>A (n.*710G>A) c.835G>A (p.Gly279Ser) n.290-1809G>A c.814G>A (p.Gly272Ser) c.*282G>A (n.*282G>A) c.403G>A (p.Gly135Ser) c.286G>A (p.Gly96Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463564G>A | CA4689584 | CHRNA2 | c.879C>T (p.Cys293=) c.*709C>T (n.*709C>T) c.834C>T (p.Cys278=) n.290-1810C>T c.813C>T (p.Cys271=) c.*281C>T (n.*281C>T) c.402C>T (p.Cys134=) c.285C>T (p.Cys95=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.27463564G>C | CA370810399 | CHRNA2 | c.879C>G (p.Cys293Trp) c.*709C>G (n.*709C>G) c.834C>G (p.Cys278Trp) n.290-1810C>G c.813C>G (p.Cys271Trp) c.*281C>G (n.*281C>G) c.402C>G (p.Cys134Trp) c.285C>G (p.Cys95Trp) | |
| 8 | g.27463564G= | CA1772814453 | CHRNA2 | c.879C= (p.Cys293=) c.*709C= (n.*709C=) c.834C= (p.Cys278=) n.290-1810C= c.813C= (p.Cys271=) c.*281C= (n.*281C=) c.402C= (p.Cys134=) c.285C= (p.Cys95=) | |
| 8 | g.27463564G>T | CA370810400 | CHRNA2 | c.879C>A (p.Cys293Ter) c.*709C>A (n.*709C>A) c.834C>A (p.Cys278Ter) n.290-1810C>A c.813C>A (p.Cys271Ter) c.*281C>A (n.*281C>A) c.402C>A (p.Cys134Ter) c.285C>A (p.Cys95Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463565C>A | CA370810402 | CHRNA2 | c.878G>T (p.Cys293Phe) c.*708G>T (n.*708G>T) c.833G>T (p.Cys278Phe) n.290-1811G>T c.812G>T (p.Cys271Phe) c.*280G>T (n.*280G>T) c.401G>T (p.Cys134Phe) c.284G>T (p.Cys95Phe) | |
| 8 | g.27463565C= | CA1772814454 | CHRNA2 | c.878G= (p.Cys293=) c.*708G= (n.*708G=) c.833G= (p.Cys278=) n.290-1811G= c.812G= (p.Cys271=) c.*280G= (n.*280G=) c.401G= (p.Cys134=) c.284G= (p.Cys95=) | |
| 8 | g.27463565C>G | CA370810404 | CHRNA2 | c.878G>C (p.Cys293Ser) c.*708G>C (n.*708G>C) c.833G>C (p.Cys278Ser) n.290-1811G>C c.812G>C (p.Cys271Ser) c.*280G>C (n.*280G>C) c.401G>C (p.Cys134Ser) c.284G>C (p.Cys95Ser) | |
| 8 | g.27463565C>T | CA370810405 | CHRNA2 | c.878G>A (p.Cys293Tyr) c.*708G>A (n.*708G>A) c.833G>A (p.Cys278Tyr) n.290-1811G>A c.812G>A (p.Cys271Tyr) c.*280G>A (n.*280G>A) c.401G>A (p.Cys134Tyr) c.284G>A (p.Cys95Tyr) | dbSNP |
| 8 | g.27463566A>C | CA370810407 | CHRNA2 | c.877T>G (p.Cys293Gly) c.*707T>G (n.*707T>G) c.832T>G (p.Cys278Gly) n.290-1812T>G c.811T>G (p.Cys271Gly) c.*279T>G (n.*279T>G) c.400T>G (p.Cys134Gly) c.283T>G (p.Cys95Gly) | |
| 8 | g.27463566A>G | CA370810408 | CHRNA2 | c.877T>C (p.Cys293Arg) c.*707T>C (n.*707T>C) c.832T>C (p.Cys278Arg) n.290-1812T>C c.811T>C (p.Cys271Arg) c.*279T>C (n.*279T>C) c.400T>C (p.Cys134Arg) c.283T>C (p.Cys95Arg) | |
| 8 | g.27463566A>T | CA370810410 | CHRNA2 | c.877T>A (p.Cys293Ser) c.*707T>A (n.*707T>A) c.832T>A (p.Cys278Ser) n.290-1812T>A c.811T>A (p.Cys271Ser) c.*279T>A (n.*279T>A) c.400T>A (p.Cys134Ser) c.283T>A (p.Cys95Ser) | |
| 8 | g.27463567G>A | CA460186708 | CHRNA2 | c.876C>T (p.Asp292=) c.*706C>T (n.*706C>T) c.831C>T (p.Asp277=) n.290-1813C>T c.810C>T (p.Asp270=) c.*278C>T (n.*278C>T) c.399C>T (p.Asp133=) c.282C>T (p.Asp94=) | |
| 8 | g.27463567G>C | CA370810412 | CHRNA2 | c.876C>G (p.Asp292Glu) c.*706C>G (n.*706C>G) c.831C>G (p.Asp277Glu) n.290-1813C>G c.810C>G (p.Asp270Glu) c.*278C>G (n.*278C>G) c.399C>G (p.Asp133Glu) c.282C>G (p.Asp94Glu) | |
| 8 | g.27463567G>T | CA370810414 | CHRNA2 | c.876C>A (p.Asp292Glu) c.*706C>A (n.*706C>A) c.831C>A (p.Asp277Glu) n.290-1813C>A c.810C>A (p.Asp270Glu) c.*278C>A (n.*278C>A) c.399C>A (p.Asp133Glu) c.282C>A (p.Asp94Glu) | |
| 8 | g.27463568T>A | CA370810416 | CHRNA2 | c.875A>T (p.Asp292Val) c.*705A>T (n.*705A>T) c.830A>T (p.Asp277Val) n.290-1814A>T c.809A>T (p.Asp270Val) c.*277A>T (n.*277A>T) c.398A>T (p.Asp133Val) c.281A>T (p.Asp94Val) | |
| 8 | g.27463568T>C | CA370810418 | CHRNA2 | c.875A>G (p.Asp292Gly) c.*705A>G (n.*705A>G) c.830A>G (p.Asp277Gly) n.290-1814A>G c.809A>G (p.Asp270Gly) c.*277A>G (n.*277A>G) c.398A>G (p.Asp133Gly) c.281A>G (p.Asp94Gly) | |
| 8 | g.27463568T>G | CA370810419 | CHRNA2 | c.875A>C (p.Asp292Ala) c.*705A>C (n.*705A>C) c.830A>C (p.Asp277Ala) n.290-1814A>C c.809A>C (p.Asp270Ala) c.*277A>C (n.*277A>C) c.398A>C (p.Asp133Ala) c.281A>C (p.Asp94Ala) | |
| 8 | g.27463569C>A | CA370810421 | CHRNA2 | c.874G>T (p.Asp292Tyr) c.*704G>T (n.*704G>T) c.829G>T (p.Asp277Tyr) n.290-1815G>T c.808G>T (p.Asp270Tyr) c.*276G>T (n.*276G>T) c.397G>T (p.Asp133Tyr) c.280G>T (p.Asp94Tyr) | gnomAD v4 |
| 8 | g.27463569C= | CA1772814455 | CHRNA2 | c.874G= (p.Asp292=) c.*704G= (n.*704G=) c.829G= (p.Asp277=) n.290-1815G= c.808G= (p.Asp270=) c.*276G= (n.*276G=) c.397G= (p.Asp133=) c.280G= (p.Asp94=) | |
| 8 | g.27463569C>G | CA370810423 | CHRNA2 | c.874G>C (p.Asp292His) c.*704G>C (n.*704G>C) c.829G>C (p.Asp277His) n.290-1815G>C c.808G>C (p.Asp270His) c.*276G>C (n.*276G>C) c.397G>C (p.Asp133His) c.280G>C (p.Asp94His) | |
| 8 | g.27463569C>T | CA4689585 | CHRNA2 | c.874G>A (p.Asp292Asn) c.*704G>A (n.*704G>A) c.829G>A (p.Asp277Asn) n.290-1815G>A c.808G>A (p.Asp270Asn) c.*276G>A (n.*276G>A) c.397G>A (p.Asp133Asn) c.280G>A (p.Asp94Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.27463570G>A | CA233745 | CHRNA2 | c.873C>T (p.Ser291=) c.*703C>T (n.*703C>T) c.828C>T (p.Ser276=) n.290-1816C>T c.807C>T (p.Ser269=) c.*275C>T (n.*275C>T) c.396C>T (p.Ser132=) c.279C>T (p.Ser93=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463570G>C | CA460186713 | CHRNA2 | c.873C>G (p.Ser291=) c.*703C>G (n.*703C>G) c.828C>G (p.Ser276=) n.290-1816C>G c.807C>G (p.Ser269=) c.*275C>G (n.*275C>G) c.396C>G (p.Ser132=) c.279C>G (p.Ser93=) | |
| 8 | g.27463570G= | CA1772814456 | CHRNA2 | c.873C= (p.Ser291=) c.*703C= (n.*703C=) c.828C= (p.Ser276=) n.290-1816C= c.807C= (p.Ser269=) c.*275C= (n.*275C=) c.396C= (p.Ser132=) c.279C= (p.Ser93=) | |
| 8 | g.27463570G>T | CA460186714 | CHRNA2 | c.873C>A (p.Ser291=) c.*703C>A (n.*703C>A) c.828C>A (p.Ser276=) n.290-1816C>A c.807C>A (p.Ser269=) c.*275C>A (n.*275C>A) c.396C>A (p.Ser132=) c.279C>A (p.Ser93=) | |
| 8 | g.27463571G>A | CA370810426 | CHRNA2 | c.872C>T (p.Ser291Phe) c.*702C>T (n.*702C>T) c.827C>T (p.Ser276Phe) n.290-1817C>T c.806C>T (p.Ser269Phe) c.*274C>T (n.*274C>T) c.395C>T (p.Ser132Phe) c.278C>T (p.Ser93Phe) | |
| 8 | g.27463571G>C | CA370810427 | CHRNA2 | c.872C>G (p.Ser291Cys) c.*702C>G (n.*702C>G) c.827C>G (p.Ser276Cys) n.290-1817C>G c.806C>G (p.Ser269Cys) c.*274C>G (n.*274C>G) c.395C>G (p.Ser132Cys) c.278C>G (p.Ser93Cys) | |
| 8 | g.27463571G>T | CA370810429 | CHRNA2 | c.872C>A (p.Ser291Tyr) c.*702C>A (n.*702C>A) c.827C>A (p.Ser276Tyr) n.290-1817C>A c.806C>A (p.Ser269Tyr) c.*274C>A (n.*274C>A) c.395C>A (p.Ser132Tyr) c.278C>A (p.Ser93Tyr) | gnomAD v4 |
| 8 | g.27463572A>C | CA370810432 | CHRNA2 | c.871T>G (p.Ser291Ala) c.*701T>G (n.*701T>G) c.826T>G (p.Ser276Ala) n.290-1818T>G c.805T>G (p.Ser269Ala) c.*273T>G (n.*273T>G) c.394T>G (p.Ser132Ala) c.277T>G (p.Ser93Ala) | |
| 8 | g.27463572A>G | CA370810434 | CHRNA2 | c.871T>C (p.Ser291Pro) c.*701T>C (n.*701T>C) c.826T>C (p.Ser276Pro) n.290-1818T>C c.805T>C (p.Ser269Pro) c.*273T>C (n.*273T>C) c.394T>C (p.Ser132Pro) c.277T>C (p.Ser93Pro) | |
| 8 | g.27463572A>T | CA370810431 | CHRNA2 | c.871T>A (p.Ser291Thr) c.*701T>A (n.*701T>A) c.826T>A (p.Ser276Thr) n.290-1818T>A c.805T>A (p.Ser269Thr) c.*273T>A (n.*273T>A) c.394T>A (p.Ser132Thr) c.277T>A (p.Ser93Thr) | |
| 8 | g.27463573G>A | CA460186722 | CHRNA2 | c.870C>T (p.Pro290=) c.*700C>T (n.*700C>T) c.825C>T (p.Pro275=) n.290-1819C>T c.804C>T (p.Pro268=) c.*272C>T (n.*272C>T) c.393C>T (p.Pro131=) c.276C>T (p.Pro92=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463573G>C | CA460186723 | CHRNA2 | c.870C>G (p.Pro290=) c.*700C>G (n.*700C>G) c.825C>G (p.Pro275=) n.290-1819C>G c.804C>G (p.Pro268=) c.*272C>G (n.*272C>G) c.393C>G (p.Pro131=) c.276C>G (p.Pro92=) | |
| 8 | g.27463573G= | CA1772814457 | CHRNA2 | c.870C= (p.Pro290=) c.*700C= (n.*700C=) c.825C= (p.Pro275=) n.290-1819C= c.804C= (p.Pro268=) c.*272C= (n.*272C=) c.393C= (p.Pro131=) c.276C= (p.Pro92=) | |
| 8 | g.27463573G>T | CA460186725 | CHRNA2 | c.870C>A (p.Pro290=) c.*700C>A (n.*700C>A) c.825C>A (p.Pro275=) n.290-1819C>A c.804C>A (p.Pro268=) c.*272C>A (n.*272C>A) c.393C>A (p.Pro131=) c.276C>A (p.Pro92=) | |
| 8 | g.27463574G>A | CA4689586 | CHRNA2 | c.869C>T (p.Pro290Leu) c.*699C>T (n.*699C>T) c.824C>T (p.Pro275Leu) n.290-1820C>T c.803C>T (p.Pro268Leu) c.*271C>T (n.*271C>T) c.392C>T (p.Pro131Leu) c.275C>T (p.Pro92Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463574G>C | CA370810435 | CHRNA2 | c.869C>G (p.Pro290Arg) c.*699C>G (n.*699C>G) c.824C>G (p.Pro275Arg) n.290-1820C>G c.803C>G (p.Pro268Arg) c.*271C>G (n.*271C>G) c.392C>G (p.Pro131Arg) c.275C>G (p.Pro92Arg) | |
| 8 | g.27463574G= | CA1772814458 | CHRNA2 | c.869C= (p.Pro290=) c.*699C= (n.*699C=) c.824C= (p.Pro275=) n.290-1820C= c.803C= (p.Pro268=) c.*271C= (n.*271C=) c.392C= (p.Pro131=) c.275C= (p.Pro92=) | |
| 8 | g.27463574G>T | CA370810436 | CHRNA2 | c.869C>A (p.Pro290His) c.*699C>A (n.*699C>A) c.824C>A (p.Pro275His) n.290-1820C>A c.803C>A (p.Pro268His) c.*271C>A (n.*271C>A) c.392C>A (p.Pro131His) c.275C>A (p.Pro92His) | |
| 8 | g.27463575G>A | CA370810438 | CHRNA2 | c.868C>T (p.Pro290Ser) c.*698C>T (n.*698C>T) c.823C>T (p.Pro275Ser) n.290-1821C>T c.802C>T (p.Pro268Ser) c.*270C>T (n.*270C>T) c.391C>T (p.Pro131Ser) c.274C>T (p.Pro92Ser) | |
| 8 | g.27463575G>C | CA370810439 | CHRNA2 | c.868C>G (p.Pro290Ala) c.*698C>G (n.*698C>G) c.823C>G (p.Pro275Ala) n.290-1821C>G c.802C>G (p.Pro268Ala) c.*270C>G (n.*270C>G) c.391C>G (p.Pro131Ala) c.274C>G (p.Pro92Ala) | |
| 8 | g.27463575G= | CA1772814459 | CHRNA2 | c.868C= (p.Pro290=) c.*698C= (n.*698C=) c.823C= (p.Pro275=) n.290-1821C= c.802C= (p.Pro268=) c.*270C= (n.*270C=) c.391C= (p.Pro131=) c.274C= (p.Pro92=) | |
| 8 | g.27463575G>T | CA370810441 | CHRNA2 | c.868C>A (p.Pro290Thr) c.*698C>A (n.*698C>A) c.823C>A (p.Pro275Thr) n.290-1821C>A c.802C>A (p.Pro268Thr) c.*270C>A (n.*270C>A) c.391C>A (p.Pro131Thr) c.274C>A (p.Pro92Thr) | dbSNP gnomAD v4 |
| 8 | g.27463576C>A | CA460186734 | CHRNA2 | c.867G>T (p.Leu289=) c.*697G>T (n.*697G>T) c.822G>T (p.Leu274=) n.290-1822G>T c.801G>T (p.Leu267=) c.*269G>T (n.*269G>T) c.390G>T (p.Leu130=) c.273G>T (p.Leu91=) | |
| 8 | g.27463576C= | CA1772814460 | CHRNA2 | c.867G= (p.Leu289=) c.*697G= (n.*697G=) c.822G= (p.Leu274=) n.290-1822G= c.801G= (p.Leu267=) c.*269G= (n.*269G=) c.390G= (p.Leu130=) c.273G= (p.Leu91=) | |
| 8 | g.27463576C>G | CA460186737 | CHRNA2 | c.867G>C (p.Leu289=) c.*697G>C (n.*697G>C) c.822G>C (p.Leu274=) n.290-1822G>C c.801G>C (p.Leu267=) c.*269G>C (n.*269G>C) c.390G>C (p.Leu130=) c.273G>C (p.Leu91=) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463576C>T | CA460186739 | CHRNA2 | c.867G>A (p.Leu289=) c.*697G>A (n.*697G>A) c.822G>A (p.Leu274=) n.290-1822G>A c.801G>A (p.Leu267=) c.*269G>A (n.*269G>A) c.390G>A (p.Leu130=) c.273G>A (p.Leu91=) | |
| 8 | g.27463577A= | CA1772814461 | CHRNA2 | c.866T= (p.Leu289=) c.*696T= (n.*696T=) c.821T= (p.Leu274=) n.290-1823T= c.800T= (p.Leu267=) c.*268T= (n.*268T=) c.389T= (p.Leu130=) c.272T= (p.Leu91=) | |
| 8 | g.27463577A>C | CA370810443 | CHRNA2 | c.866T>G (p.Leu289Arg) c.*696T>G (n.*696T>G) c.821T>G (p.Leu274Arg) n.290-1823T>G c.800T>G (p.Leu267Arg) c.*268T>G (n.*268T>G) c.389T>G (p.Leu130Arg) c.272T>G (p.Leu91Arg) | |
| 8 | g.27463577A>G | CA174242188 | CHRNA2 | c.866T>C (p.Leu289Pro) c.*696T>C (n.*696T>C) c.821T>C (p.Leu274Pro) n.290-1823T>C c.800T>C (p.Leu267Pro) c.*268T>C (n.*268T>C) c.389T>C (p.Leu130Pro) c.272T>C (p.Leu91Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463577A>T | CA370810445 | CHRNA2 | c.866T>A (p.Leu289Gln) c.*696T>A (n.*696T>A) c.821T>A (p.Leu274Gln) n.290-1823T>A c.800T>A (p.Leu267Gln) c.*268T>A (n.*268T>A) c.389T>A (p.Leu130Gln) c.272T>A (p.Leu91Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463578G>A | CA460186746 | CHRNA2 | c.865C>T (p.Leu289=) c.*695C>T (n.*695C>T) c.820C>T (p.Leu274=) n.290-1824C>T c.799C>T (p.Leu267=) c.*267C>T (n.*267C>T) c.388C>T (p.Leu130=) c.271C>T (p.Leu91=) | ClinVar dbSNP |
| 8 | g.27463578G>C | CA370810446 | CHRNA2 | c.865C>G (p.Leu289Val) c.*695C>G (n.*695C>G) c.820C>G (p.Leu274Val) n.290-1824C>G c.799C>G (p.Leu267Val) c.*267C>G (n.*267C>G) c.388C>G (p.Leu130Val) c.271C>G (p.Leu91Val) | |
| 8 | g.27463578G>T | CA370810448 | CHRNA2 | c.865C>A (p.Leu289Met) c.*695C>A (n.*695C>A) c.820C>A (p.Leu274Met) n.290-1824C>A c.799C>A (p.Leu267Met) c.*267C>A (n.*267C>A) c.388C>A (p.Leu130Met) c.271C>A (p.Leu91Met) | |
| 8 | g.27463579G>A | CA4689587 | CHRNA2 | c.864C>T (p.Tyr288=) c.*694C>T (n.*694C>T) c.819C>T (p.Tyr273=) n.290-1825C>T c.798C>T (p.Tyr266=) c.*266C>T (n.*266C>T) c.387C>T (p.Tyr129=) c.270C>T (p.Tyr90=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463579G>C | CA370810452 | CHRNA2 | c.864C>G (p.Tyr288Ter) c.*694C>G (n.*694C>G) c.819C>G (p.Tyr273Ter) n.290-1825C>G c.798C>G (p.Tyr266Ter) c.*266C>G (n.*266C>G) c.387C>G (p.Tyr129Ter) c.270C>G (p.Tyr90Ter) | |
| 8 | g.27463579G= | CA1772814462 | CHRNA2 | c.864C= (p.Tyr288=) c.*694C= (n.*694C=) c.819C= (p.Tyr273=) n.290-1825C= c.798C= (p.Tyr266=) c.*266C= (n.*266C=) c.387C= (p.Tyr129=) c.270C= (p.Tyr90=) | |
| 8 | g.27463579G>T | CA370810449 | CHRNA2 | c.864C>A (p.Tyr288Ter) c.*694C>A (n.*694C>A) c.819C>A (p.Tyr273Ter) n.290-1825C>A c.798C>A (p.Tyr266Ter) c.*266C>A (n.*266C>A) c.387C>A (p.Tyr129Ter) c.270C>A (p.Tyr90Ter) | |
| 8 | g.27463580T>A | CA370810461 | CHRNA2 | c.863A>T (p.Tyr288Phe) c.*693A>T (n.*693A>T) c.818A>T (p.Tyr273Phe) n.290-1826A>T c.797A>T (p.Tyr266Phe) c.*265A>T (n.*265A>T) c.386A>T (p.Tyr129Phe) c.269A>T (p.Tyr90Phe) | |
| 8 | g.27463580T>C | CA370810462 | CHRNA2 | c.863A>G (p.Tyr288Cys) c.*693A>G (n.*693A>G) c.818A>G (p.Tyr273Cys) n.290-1826A>G c.797A>G (p.Tyr266Cys) c.*265A>G (n.*265A>G) c.386A>G (p.Tyr129Cys) c.269A>G (p.Tyr90Cys) | |
| 8 | g.27463580T>G | CA370810463 | CHRNA2 | c.863A>C (p.Tyr288Ser) c.*693A>C (n.*693A>C) c.818A>C (p.Tyr273Ser) n.290-1826A>C c.797A>C (p.Tyr266Ser) c.*265A>C (n.*265A>C) c.386A>C (p.Tyr129Ser) c.269A>C (p.Tyr90Ser) | dbSNP |
| 8 | g.27463580T= | CA1772814464 | CHRNA2 | c.863A= (p.Tyr288=) c.*693A= (n.*693A=) c.818A= (p.Tyr273=) n.290-1826A= c.797A= (p.Tyr266=) c.*265A= (n.*265A=) c.386A= (p.Tyr129=) c.269A= (p.Tyr90=) | |
| 8 | g.27463580_27463584delinsTAGAA | CA1772814463 | CHRNA2 | c.859_863delinsTTCTA (p.Phe287=) c.*689_*693delinsTTCTA (n.*689_*693delinsTTCTA) c.814_818delinsTTCTA (p.Phe272=) n.290-1830_290-1826delinsTTCTA c.793_797delinsTTCTA (p.Phe265=) c.*261_*265delinsTTCTA (n.*261_*265delinsTTCTA) c.382_386delinsTTCTA (p.Phe128=) c.265_269delinsTTCTA (p.Phe89=) | |
| 8 | g.27463581del | CA460186750 | CHRNA2 | c.862del (p.Tyr288ThrfsTer?) c.*692del (n.*692del) c.817del (p.Tyr273ThrfsTer?) n.290-1827del c.796del (p.Tyr266ThrfsTer?) c.*264del (n.*264del) c.385del (p.Tyr129ThrfsTer?) c.268del (p.Tyr90ThrfsTer?) | gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463581A>C | CA370810465 | CHRNA2 | c.862T>G (p.Tyr288Asp) c.*692T>G (n.*692T>G) c.817T>G (p.Tyr273Asp) n.290-1827T>G c.796T>G (p.Tyr266Asp) c.*264T>G (n.*264T>G) c.385T>G (p.Tyr129Asp) c.268T>G (p.Tyr90Asp) | |
| 8 | g.27463581A>G | CA370810466 | CHRNA2 | c.862T>C (p.Tyr288His) c.*692T>C (n.*692T>C) c.817T>C (p.Tyr273His) n.290-1827T>C c.796T>C (p.Tyr266His) c.*264T>C (n.*264T>C) c.385T>C (p.Tyr129His) c.268T>C (p.Tyr90His) | |
| 8 | g.27463581A>T | CA370810467 | CHRNA2 | c.862T>A (p.Tyr288Asn) c.*692T>A (n.*692T>A) c.817T>A (p.Tyr273Asn) n.290-1827T>A c.796T>A (p.Tyr266Asn) c.*264T>A (n.*264T>A) c.385T>A (p.Tyr129Asn) c.268T>A (p.Tyr90Asn) | |
| 8 | g.27463581_27463584del | CA580954958 | CHRNA2 | c.859_862del (p.Phe287ThrfsTer?) c.*689_*692del (n.*689_*692del) c.814_817del (p.Phe272ThrfsTer?) n.290-1830_290-1827del c.793_796del (p.Phe265ThrfsTer?) c.*261_*264del (n.*261_*264del) c.382_385del (p.Phe128ThrfsTer?) c.265_268del (p.Phe89ThrfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.27463581_27463584delinsG | CA658797073 | CHRNA2 | c.859_862delinsC (p.Phe287_Tyr288delinsHis) c.*689_*692delinsC (n.*689_*692delinsC) c.814_817delinsC (p.Phe272_Tyr273delinsHis) n.290-1830_290-1827delinsC c.793_796delinsC (p.Phe265_Tyr266delinsHis) c.*261_*264delinsC (n.*261_*264delinsC) c.382_385delinsC (p.Phe128_Tyr129delinsHis) c.265_268delinsC (p.Phe89_Tyr90delinsHis) | ClinVar dbSNP |
| 8 | g.27463582G>A | CA460186751 | CHRNA2 | c.861C>T (p.Phe287=) c.*691C>T (n.*691C>T) c.816C>T (p.Phe272=) n.290-1828C>T c.795C>T (p.Phe265=) c.*263C>T (n.*263C>T) c.384C>T (p.Phe128=) c.267C>T (p.Phe89=) | COSMIC |
| 8 | g.27463582G>C | CA370810468 | CHRNA2 | c.861C>G (p.Phe287Leu) c.*691C>G (n.*691C>G) c.816C>G (p.Phe272Leu) n.290-1828C>G c.795C>G (p.Phe265Leu) c.*263C>G (n.*263C>G) c.384C>G (p.Phe128Leu) c.267C>G (p.Phe89Leu) | |
| 8 | g.27463582G>T | CA370810470 | CHRNA2 | c.861C>A (p.Phe287Leu) c.*691C>A (n.*691C>A) c.816C>A (p.Phe272Leu) n.290-1828C>A c.795C>A (p.Phe265Leu) c.*263C>A (n.*263C>A) c.384C>A (p.Phe128Leu) c.267C>A (p.Phe89Leu) | |
| 8 | g.27463582_27463584delinsGAA | CA1772814465 | CHRNA2 | c.859_861delinsTTC (p.Phe287=) c.*689_*691delinsTTC (n.*689_*691delinsTTC) c.814_816delinsTTC (p.Phe272=) n.290-1830_290-1828delinsTTC c.793_795delinsTTC (p.Phe265=) c.*261_*263delinsTTC (n.*261_*263delinsTTC) c.382_384delinsTTC (p.Phe128=) c.265_267delinsTTC (p.Phe89=) | |
| 8 | g.27463583A= | CA1772814466 | CHRNA2 | c.860T= (p.Phe287=) c.*690T= (n.*690T=) c.815T= (p.Phe272=) n.290-1829T= c.794T= (p.Phe265=) c.*262T= (n.*262T=) c.383T= (p.Phe128=) c.266T= (p.Phe89=) | |
| 8 | g.27463583A>C | CA370810472 | CHRNA2 | c.860T>G (p.Phe287Cys) c.*690T>G (n.*690T>G) c.815T>G (p.Phe272Cys) n.290-1829T>G c.794T>G (p.Phe265Cys) c.*262T>G (n.*262T>G) c.383T>G (p.Phe128Cys) c.266T>G (p.Phe89Cys) | |
| 8 | g.27463583A>G | CA16612445 | CHRNA2 | c.860T>C (p.Phe287Ser) c.*690T>C (n.*690T>C) c.815T>C (p.Phe272Ser) n.290-1829T>C c.794T>C (p.Phe265Ser) c.*262T>C (n.*262T>C) c.383T>C (p.Phe128Ser) c.266T>C (p.Phe89Ser) | ClinVar dbSNP gnomAD v4 |
| 8 | g.27463583A>T | CA370810474 | CHRNA2 | c.860T>A (p.Phe287Tyr) c.*690T>A (n.*690T>A) c.815T>A (p.Phe272Tyr) n.290-1829T>A c.794T>A (p.Phe265Tyr) c.*262T>A (n.*262T>A) c.383T>A (p.Phe128Tyr) c.266T>A (p.Phe89Tyr) | |
| 8 | g.27463583_27463584del | CA460186753 | CHRNA2 | c.859_860del (p.Phe287LeufsTer29) c.*689_*690del (n.*689_*690del) c.814_815del (p.Phe272LeufsTer29) n.290-1830_290-1829del c.793_794del (p.Phe265LeufsTer29) c.*261_*262del (n.*261_*262del) c.382_383del (p.Phe128LeufsTer29) c.265_266del (p.Phe89LeufsTer29) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463584A= | CA1772814467 | CHRNA2 | c.859T= (p.Phe287=) c.*689T= (n.*689T=) c.814T= (p.Phe272=) n.290-1830T= c.793T= (p.Phe265=) c.*261T= (n.*261T=) c.382T= (p.Phe128=) c.265T= (p.Phe89=) | |
| 8 | g.27463584A>C | CA370810475 | CHRNA2 | c.859T>G (p.Phe287Val) c.*689T>G (n.*689T>G) c.814T>G (p.Phe272Val) n.290-1830T>G c.793T>G (p.Phe265Val) c.*261T>G (n.*261T>G) c.382T>G (p.Phe128Val) c.265T>G (p.Phe89Val) | |
| 8 | g.27463584A>G | CA370810476 | CHRNA2 | c.859T>C (p.Phe287Leu) c.*689T>C (n.*689T>C) c.814T>C (p.Phe272Leu) n.290-1830T>C c.793T>C (p.Phe265Leu) c.*261T>C (n.*261T>C) c.382T>C (p.Phe128Leu) c.265T>C (p.Phe89Leu) | |
| 8 | g.27463584A>T | CA370810477 | CHRNA2 | c.859T>A (p.Phe287Ile) c.*689T>A (n.*689T>A) c.814T>A (p.Phe272Ile) n.290-1830T>A c.793T>A (p.Phe265Ile) c.*261T>A (n.*261T>A) c.382T>A (p.Phe128Ile) c.265T>A (p.Phe89Ile) | |
| 8 | g.27463584_27463585insCTTCT | CA580954959 | CHRNA2 | c.858_859insAGAAG (p.Phe287ArgfsTer?) c.*688_*689insAGAAG (n.*688_*689insAGAAG) c.813_814insAGAAG (p.Phe272ArgfsTer?) n.290-1831_290-1830insAGAAG c.792_793insAGAAG (p.Phe265ArgfsTer?) c.*260_*261insAGAAG (n.*260_*261insAGAAG) c.381_382insAGAAG (p.Phe128ArgfsTer?) c.264_265insAGAAG (p.Phe89ArgfsTer?) | dbSNP gnomAD v2 |
| 8 | g.27463585G>A | CA460186762 | CHRNA2 | c.858C>T (p.Val286=) c.*688C>T (n.*688C>T) c.813C>T (p.Val271=) n.290-1831C>T c.792C>T (p.Val264=) c.*260C>T (n.*260C>T) c.381C>T (p.Val127=) c.264C>T (p.Val88=) | |
| 8 | g.27463585G>C | CA460186763 | CHRNA2 | c.858C>G (p.Val286=) c.*688C>G (n.*688C>G) c.813C>G (p.Val271=) n.290-1831C>G c.792C>G (p.Val264=) c.*260C>G (n.*260C>G) c.381C>G (p.Val127=) c.264C>G (p.Val88=) | |
| 8 | g.27463585G>T | CA460186764 | CHRNA2 | c.858C>A (p.Val286=) c.*688C>A (n.*688C>A) c.813C>A (p.Val271=) n.290-1831C>A c.792C>A (p.Val264=) c.*260C>A (n.*260C>A) c.381C>A (p.Val127=) c.264C>A (p.Val88=) | gnomAD v4 |
| 8 | g.27463586A= | CA1772814468 | CHRNA2 | c.857T= (p.Val286=) c.*687T= (n.*687T=) c.812T= (p.Val271=) n.290-1832T= c.791T= (p.Val264=) c.*259T= (n.*259T=) c.380T= (p.Val127=) c.263T= (p.Val88=) | |
| 8 | g.27463586A>C | CA370810479 | CHRNA2 | c.857T>G (p.Val286Gly) c.*687T>G (n.*687T>G) c.812T>G (p.Val271Gly) n.290-1832T>G c.791T>G (p.Val264Gly) c.*259T>G (n.*259T>G) c.380T>G (p.Val127Gly) c.263T>G (p.Val88Gly) | |
| 8 | g.27463586A>G | CA370810480 | CHRNA2 | c.857T>C (p.Val286Ala) c.*687T>C (n.*687T>C) c.812T>C (p.Val271Ala) n.290-1832T>C c.791T>C (p.Val264Ala) c.*259T>C (n.*259T>C) c.380T>C (p.Val127Ala) c.263T>C (p.Val88Ala) | |
| 8 | g.27463586A>T | CA174242201 | CHRNA2 | c.857T>A (p.Val286Asp) c.*687T>A (n.*687T>A) c.812T>A (p.Val271Asp) n.290-1832T>A c.791T>A (p.Val264Asp) c.*259T>A (n.*259T>A) c.380T>A (p.Val127Asp) c.263T>A (p.Val88Asp) | dbSNP |
| 8 | g.27463587C>A | CA370810482 | CHRNA2 | c.856G>T (p.Val286Phe) c.*686G>T (n.*686G>T) c.811G>T (p.Val271Phe) n.290-1833G>T c.790G>T (p.Val264Phe) c.*258G>T (n.*258G>T) c.379G>T (p.Val127Phe) c.262G>T (p.Val88Phe) | dbSNP |
| 8 | g.27463587C= | CA1772814469 | CHRNA2 | c.856G= (p.Val286=) c.*686G= (n.*686G=) c.811G= (p.Val271=) n.290-1833G= c.790G= (p.Val264=) c.*258G= (n.*258G=) c.379G= (p.Val127=) c.262G= (p.Val88=) | |
| 8 | g.27463587C>G | CA370810483 | CHRNA2 | c.856G>C (p.Val286Leu) c.*686G>C (n.*686G>C) c.811G>C (p.Val271Leu) n.290-1833G>C c.790G>C (p.Val264Leu) c.*258G>C (n.*258G>C) c.379G>C (p.Val127Leu) c.262G>C (p.Val88Leu) | |
| 8 | g.27463587C>T | CA370810484 | CHRNA2 | c.856G>A (p.Val286Ile) c.*686G>A (n.*686G>A) c.811G>A (p.Val271Ile) n.290-1833G>A c.790G>A (p.Val264Ile) c.*258G>A (n.*258G>A) c.379G>A (p.Val127Ile) c.262G>A (p.Val88Ile) | |
| 8 | g.27463588C>A | CA460186775 | CHRNA2 | c.855G>T (p.Leu285=) c.*685G>T (n.*685G>T) c.810G>T (p.Leu270=) n.290-1834G>T c.789G>T (p.Leu263=) c.*257G>T (n.*257G>T) c.378G>T (p.Leu126=) c.261G>T (p.Leu87=) | |
| 8 | g.27463588C= | CA1772814470 | CHRNA2 | c.855G= (p.Leu285=) c.*685G= (n.*685G=) c.810G= (p.Leu270=) n.290-1834G= c.789G= (p.Leu263=) c.*257G= (n.*257G=) c.378G= (p.Leu126=) c.261G= (p.Leu87=) | |
| 8 | g.27463588C>G | CA460186772 | CHRNA2 | c.855G>C (p.Leu285=) c.*685G>C (n.*685G>C) c.810G>C (p.Leu270=) n.290-1834G>C c.789G>C (p.Leu263=) c.*257G>C (n.*257G>C) c.378G>C (p.Leu126=) c.261G>C (p.Leu87=) | |
| 8 | g.27463588C>T | CA4689588 | CHRNA2 | c.855G>A (p.Leu285=) c.*685G>A (n.*685G>A) c.810G>A (p.Leu270=) n.290-1834G>A c.789G>A (p.Leu263=) c.*257G>A (n.*257G>A) c.378G>A (p.Leu126=) c.261G>A (p.Leu87=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463589A>C | CA370810486 | CHRNA2 | c.854T>G (p.Leu285Arg) c.*684T>G (n.*684T>G) c.809T>G (p.Leu270Arg) n.290-1835T>G c.788T>G (p.Leu263Arg) c.*256T>G (n.*256T>G) c.377T>G (p.Leu126Arg) c.260T>G (p.Leu87Arg) | |
| 8 | g.27463589A>G | CA370810488 | CHRNA2 | c.854T>C (p.Leu285Pro) c.*684T>C (n.*684T>C) c.809T>C (p.Leu270Pro) n.290-1835T>C c.788T>C (p.Leu263Pro) c.*256T>C (n.*256T>C) c.377T>C (p.Leu126Pro) c.260T>C (p.Leu87Pro) | |
| 8 | g.27463589A>T | CA370810489 | CHRNA2 | c.854T>A (p.Leu285Gln) c.*684T>A (n.*684T>A) c.809T>A (p.Leu270Gln) n.290-1835T>A c.788T>A (p.Leu263Gln) c.*256T>A (n.*256T>A) c.377T>A (p.Leu126Gln) c.260T>A (p.Leu87Gln) | |
| 8 | g.27463590G>A | CA460186783 | CHRNA2 | c.853C>T (p.Leu285=) c.*683C>T (n.*683C>T) c.808C>T (p.Leu270=) n.290-1836C>T c.787C>T (p.Leu263=) c.*255C>T (n.*255C>T) c.376C>T (p.Leu126=) c.259C>T (p.Leu87=) | gnomAD v4 |
| 8 | g.27463590G>C | CA370810491 | CHRNA2 | c.853C>G (p.Leu285Val) c.*683C>G (n.*683C>G) c.808C>G (p.Leu270Val) n.290-1836C>G c.787C>G (p.Leu263Val) c.*255C>G (n.*255C>G) c.376C>G (p.Leu126Val) c.259C>G (p.Leu87Val) | |
| 8 | g.27463590G>T | CA370810492 | CHRNA2 | c.853C>A (p.Leu285Met) c.*683C>A (n.*683C>A) c.808C>A (p.Leu270Met) n.290-1836C>A c.787C>A (p.Leu263Met) c.*255C>A (n.*255C>A) c.376C>A (p.Leu126Met) c.259C>A (p.Leu87Met) | |
| 8 | g.27463591C>A | CA460186787 | CHRNA2 | c.852G>T (p.Val284=) c.*682G>T (n.*682G>T) c.807G>T (p.Val269=) n.290-1837G>T c.786G>T (p.Val262=) c.*254G>T (n.*254G>T) c.375G>T (p.Val125=) c.258G>T (p.Val86=) | |
| 8 | g.27463591C= | CA1772814471 | CHRNA2 | c.852G= (p.Val284=) c.*682G= (n.*682G=) c.807G= (p.Val269=) n.290-1837G= c.786G= (p.Val262=) c.*254G= (n.*254G=) c.375G= (p.Val125=) c.258G= (p.Val86=) | |
| 8 | g.27463591C>G | CA460186790 | CHRNA2 | c.852G>C (p.Val284=) c.*682G>C (n.*682G>C) c.807G>C (p.Val269=) n.290-1837G>C c.786G>C (p.Val262=) c.*254G>C (n.*254G>C) c.375G>C (p.Val125=) c.258G>C (p.Val86=) | |
| 8 | g.27463591C>T | CA460186791 | CHRNA2 | c.852G>A (p.Val284=) c.*682G>A (n.*682G>A) c.807G>A (p.Val269=) n.290-1837G>A c.786G>A (p.Val262=) c.*254G>A (n.*254G>A) c.375G>A (p.Val125=) c.258G>A (p.Val86=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463592A>C | CA370810493 | CHRNA2 | c.851T>G (p.Val284Gly) c.*681T>G (n.*681T>G) c.806T>G (p.Val269Gly) n.290-1838T>G c.785T>G (p.Val262Gly) c.*253T>G (n.*253T>G) c.374T>G (p.Val125Gly) c.257T>G (p.Val86Gly) | |
| 8 | g.27463592A>G | CA370810494 | CHRNA2 | c.851T>C (p.Val284Ala) c.*681T>C (n.*681T>C) c.806T>C (p.Val269Ala) n.290-1838T>C c.785T>C (p.Val262Ala) c.*253T>C (n.*253T>C) c.374T>C (p.Val125Ala) c.257T>C (p.Val86Ala) | |
| 8 | g.27463592A>T | CA370810496 | CHRNA2 | c.851T>A (p.Val284Glu) c.*681T>A (n.*681T>A) c.806T>A (p.Val269Glu) n.290-1838T>A c.785T>A (p.Val262Glu) c.*253T>A (n.*253T>A) c.374T>A (p.Val125Glu) c.257T>A (p.Val86Glu) | |
| 8 | g.27463593C>A | CA370810498 | CHRNA2 | c.850G>T (p.Val284Leu) c.*680G>T (n.*680G>T) c.805G>T (p.Val269Leu) n.290-1839G>T c.784G>T (p.Val262Leu) c.*252G>T (n.*252G>T) c.373G>T (p.Val125Leu) c.256G>T (p.Val86Leu) | dbSNP gnomAD v4 |
| 8 | g.27463593C= | CA1772814472 | CHRNA2 | c.850G= (p.Val284=) c.*680G= (n.*680G=) c.805G= (p.Val269=) n.290-1839G= c.784G= (p.Val262=) c.*252G= (n.*252G=) c.373G= (p.Val125=) c.256G= (p.Val86=) | |
| 8 | g.27463593C>G | CA370810500 | CHRNA2 | c.850G>C (p.Val284Leu) c.*680G>C (n.*680G>C) c.805G>C (p.Val269Leu) n.290-1839G>C c.784G>C (p.Val262Leu) c.*252G>C (n.*252G>C) c.373G>C (p.Val125Leu) c.256G>C (p.Val86Leu) | |
| 8 | g.27463593C>T | CA370810501 | CHRNA2 | c.850G>A (p.Val284Met) c.*680G>A (n.*680G>A) c.805G>A (p.Val269Met) n.290-1839G>A c.784G>A (p.Val262Met) c.*252G>A (n.*252G>A) c.373G>A (p.Val125Met) c.256G>A (p.Val86Met) | |
| 8 | g.27463594A>C | CA460186801 | CHRNA2 | c.849T>G (p.Thr283=) c.*679T>G (n.*679T>G) c.804T>G (p.Thr268=) n.290-1840T>G c.783T>G (p.Thr261=) c.*251T>G (n.*251T>G) c.372T>G (p.Thr124=) c.255T>G (p.Thr85=) | |
| 8 | g.27463594A>G | CA460186802 | CHRNA2 | c.849T>C (p.Thr283=) c.*679T>C (n.*679T>C) c.804T>C (p.Thr268=) n.290-1840T>C c.783T>C (p.Thr261=) c.*251T>C (n.*251T>C) c.372T>C (p.Thr124=) c.255T>C (p.Thr85=) | |
| 8 | g.27463594A>T | CA460186803 | CHRNA2 | c.849T>A (p.Thr283=) c.*679T>A (n.*679T>A) c.804T>A (p.Thr268=) n.290-1840T>A c.783T>A (p.Thr261=) c.*251T>A (n.*251T>A) c.372T>A (p.Thr124=) c.255T>A (p.Thr85=) | |
| 8 | g.27463596_27463599del | CA2686678231 | CHRNA2 | c.846_849del (p.Thr283CysfsTer?) c.*676_*679del (n.*676_*679del) c.801_804del (p.Thr268CysfsTer?) n.290-1843_290-1840del c.780_783del (p.Thr261CysfsTer?) c.*248_*251del (n.*248_*251del) c.369_372del (p.Thr124CysfsTer?) c.252_255del (p.Thr85CysfsTer?) | gnomAD v4 |
| 8 | g.27463595G>A | CA370810502 | CHRNA2 | c.848C>T (p.Thr283Ile) c.*678C>T (n.*678C>T) c.803C>T (p.Thr268Ile) n.290-1841C>T c.782C>T (p.Thr261Ile) c.*250C>T (n.*250C>T) c.371C>T (p.Thr124Ile) c.254C>T (p.Thr85Ile) | |
| 8 | g.27463595G>C | CA370810505 | CHRNA2 | c.848C>G (p.Thr283Ser) c.*678C>G (n.*678C>G) c.803C>G (p.Thr268Ser) n.290-1841C>G c.782C>G (p.Thr261Ser) c.*250C>G (n.*250C>G) c.371C>G (p.Thr124Ser) c.254C>G (p.Thr85Ser) | |
| 8 | g.27463595G>T | CA370810504 | CHRNA2 | c.848C>A (p.Thr283Asn) c.*678C>A (n.*678C>A) c.803C>A (p.Thr268Asn) n.290-1841C>A c.782C>A (p.Thr261Asn) c.*250C>A (n.*250C>A) c.371C>A (p.Thr124Asn) c.254C>A (p.Thr85Asn) | |
| 8 | g.27463596T>A | CA370810506 | CHRNA2 | c.847A>T (p.Thr283Ser) c.*677A>T (n.*677A>T) c.802A>T (p.Thr268Ser) n.290-1842A>T c.781A>T (p.Thr261Ser) c.*249A>T (n.*249A>T) c.370A>T (p.Thr124Ser) c.253A>T (p.Thr85Ser) | |
| 8 | g.27463596T>C | CA370810508 | CHRNA2 | c.847A>G (p.Thr283Ala) c.*677A>G (n.*677A>G) c.802A>G (p.Thr268Ala) n.290-1842A>G c.781A>G (p.Thr261Ala) c.*249A>G (n.*249A>G) c.370A>G (p.Thr124Ala) c.253A>G (p.Thr85Ala) | gnomAD v4 |
| 8 | g.27463596T>G | CA370810509 | CHRNA2 | c.847A>C (p.Thr283Pro) c.*677A>C (n.*677A>C) c.802A>C (p.Thr268Pro) n.290-1842A>C c.781A>C (p.Thr261Pro) c.*249A>C (n.*249A>C) c.370A>C (p.Thr124Pro) c.253A>C (p.Thr85Pro) | |
| 8 | g.27463597G>A | CA4689589 | CHRNA2 | c.846C>T (p.Leu282=) c.*676C>T (n.*676C>T) c.801C>T (p.Leu267=) n.290-1843C>T c.780C>T (p.Leu260=) c.*248C>T (n.*248C>T) c.369C>T (p.Leu123=) c.252C>T (p.Leu84=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.27463597G>C | CA460186816 | CHRNA2 | c.846C>G (p.Leu282=) c.*676C>G (n.*676C>G) c.801C>G (p.Leu267=) n.290-1843C>G c.780C>G (p.Leu260=) c.*248C>G (n.*248C>G) c.369C>G (p.Leu123=) c.252C>G (p.Leu84=) | |
| 8 | g.27463597G= | CA1772814474 | CHRNA2 | c.846C= (p.Leu282=) c.*676C= (n.*676C=) c.801C= (p.Leu267=) n.290-1843C= c.780C= (p.Leu260=) c.*248C= (n.*248C=) c.369C= (p.Leu123=) c.252C= (p.Leu84=) | |
| 8 | g.27463597G>T | CA460186812 | CHRNA2 | c.846C>A (p.Leu282=) c.*676C>A (n.*676C>A) c.801C>A (p.Leu267=) n.290-1843C>A c.780C>A (p.Leu260=) c.*248C>A (n.*248C>A) c.369C>A (p.Leu123=) c.252C>A (p.Leu84=) | |
| 8 | g.27463597_27463598delinsGA | CA1772814475 | CHRNA2 | c.845_846delinsTC (p.Leu282=) c.*675_*676delinsTC (n.*675_*676delinsTC) c.800_801delinsTC (p.Leu267=) n.290-1844_290-1843delinsTC c.779_780delinsTC (p.Leu260=) c.*247_*248delinsTC (n.*247_*248delinsTC) c.368_369delinsTC (p.Leu123=) c.251_252delinsTC (p.Leu84=) | |
| 8 | g.27463598del | CA850385262 | CHRNA2 | c.845del (p.Leu282ProfsTer?) c.*675del (n.*675del) c.800del (p.Leu267ProfsTer?) n.290-1844del c.779del (p.Leu260ProfsTer?) c.*247del (n.*247del) c.368del (p.Leu123ProfsTer?) c.251del (p.Leu84ProfsTer?) | dbSNP |
| 8 | g.27463598A>C | CA370810511 | CHRNA2 | c.845T>G (p.Leu282Arg) c.*675T>G (n.*675T>G) c.800T>G (p.Leu267Arg) n.290-1844T>G c.779T>G (p.Leu260Arg) c.*247T>G (n.*247T>G) c.368T>G (p.Leu123Arg) c.251T>G (p.Leu84Arg) | |
| 8 | g.27463598A>G | CA370810512 | CHRNA2 | c.845T>C (p.Leu282Pro) c.*675T>C (n.*675T>C) c.800T>C (p.Leu267Pro) n.290-1844T>C c.779T>C (p.Leu260Pro) c.*247T>C (n.*247T>C) c.368T>C (p.Leu123Pro) c.251T>C (p.Leu84Pro) | |
| 8 | g.27463598A>T | CA370810514 | CHRNA2 | c.845T>A (p.Leu282His) c.*675T>A (n.*675T>A) c.800T>A (p.Leu267His) n.290-1844T>A c.779T>A (p.Leu260His) c.*247T>A (n.*247T>A) c.368T>A (p.Leu123His) c.251T>A (p.Leu84His) | |
| 8 | g.27463605_27463619del | CA2686678232 | CHRNA2 | c.831_845del (p.Leu278_Leu282del) c.*661_*675del (n.*661_*675del) c.786_800del (p.Leu263_Leu267del) n.290-1858_290-1844del c.765_779del (p.Leu256_Leu260del) c.*233_*247del (n.*233_*247del) c.354_368del (p.Leu119_Leu123del) c.237_251del (p.Leu80_Leu84del) | gnomAD v4 |
| 8 | g.27463599G>A | CA370810516 | CHRNA2 | c.844C>T (p.Leu282Phe) c.*674C>T (n.*674C>T) c.799C>T (p.Leu267Phe) n.290-1845C>T c.778C>T (p.Leu260Phe) c.*246C>T (n.*246C>T) c.367C>T (p.Leu123Phe) c.250C>T (p.Leu84Phe) | ClinVar |
| 8 | g.27463599G>C | CA370810517 | CHRNA2 | c.844C>G (p.Leu282Val) c.*674C>G (n.*674C>G) c.799C>G (p.Leu267Val) n.290-1845C>G c.778C>G (p.Leu260Val) c.*246C>G (n.*246C>G) c.367C>G (p.Leu123Val) c.250C>G (p.Leu84Val) | |
| 8 | g.27463599G>T | CA370810518 | CHRNA2 | c.844C>A (p.Leu282Ile) c.*674C>A (n.*674C>A) c.799C>A (p.Leu267Ile) n.290-1845C>A c.778C>A (p.Leu260Ile) c.*246C>A (n.*246C>A) c.367C>A (p.Leu123Ile) c.250C>A (p.Leu84Ile) | |
| 8 | g.27463600G>A | CA460186826 | CHRNA2 | c.843C>T (p.Cys281=) c.*673C>T (n.*673C>T) c.798C>T (p.Cys266=) n.290-1846C>T c.777C>T (p.Cys259=) c.*245C>T (n.*245C>T) c.366C>T (p.Cys122=) c.249C>T (p.Cys83=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463600G>C | CA370810519 | CHRNA2 | c.843C>G (p.Cys281Trp) c.*673C>G (n.*673C>G) c.798C>G (p.Cys266Trp) n.290-1846C>G c.777C>G (p.Cys259Trp) c.*245C>G (n.*245C>G) c.366C>G (p.Cys122Trp) c.249C>G (p.Cys83Trp) | |
| 8 | g.27463600G= | CA1772814477 | CHRNA2 | c.843C= (p.Cys281=) c.*673C= (n.*673C=) c.798C= (p.Cys266=) n.290-1846C= c.777C= (p.Cys259=) c.*245C= (n.*245C=) c.366C= (p.Cys122=) c.249C= (p.Cys83=) | |
| 8 | g.27463600G>T | CA370810520 | CHRNA2 | c.843C>A (p.Cys281Ter) c.*673C>A (n.*673C>A) c.798C>A (p.Cys266Ter) n.290-1846C>A c.777C>A (p.Cys259Ter) c.*245C>A (n.*245C>A) c.366C>A (p.Cys122Ter) c.249C>A (p.Cys83Ter) | |
| 8 | g.27463601C>A | CA370810521 | CHRNA2 | c.842G>T (p.Cys281Phe) c.*672G>T (n.*672G>T) c.797G>T (p.Cys266Phe) n.290-1847G>T c.776G>T (p.Cys259Phe) c.*244G>T (n.*244G>T) c.365G>T (p.Cys122Phe) c.248G>T (p.Cys83Phe) | |
| 8 | g.27463601C>G | CA370810524 | CHRNA2 | c.842G>C (p.Cys281Ser) c.*672G>C (n.*672G>C) c.797G>C (p.Cys266Ser) n.290-1847G>C c.776G>C (p.Cys259Ser) c.*244G>C (n.*244G>C) c.365G>C (p.Cys122Ser) c.248G>C (p.Cys83Ser) | COSMIC |
| 8 | g.27463601C>T | CA370810522 | CHRNA2 | c.842G>A (p.Cys281Tyr) c.*672G>A (n.*672G>A) c.797G>A (p.Cys266Tyr) n.290-1847G>A c.776G>A (p.Cys259Tyr) c.*244G>A (n.*244G>A) c.365G>A (p.Cys122Tyr) c.248G>A (p.Cys83Tyr) | gnomAD v4 |
| 8 | g.27463602A>C | CA370810525 | CHRNA2 | c.841T>G (p.Cys281Gly) c.*671T>G (n.*671T>G) c.796T>G (p.Cys266Gly) n.290-1848T>G c.775T>G (p.Cys259Gly) c.*243T>G (n.*243T>G) c.364T>G (p.Cys122Gly) c.247T>G (p.Cys83Gly) | |
| 8 | g.27463602A>G | CA370810526 | CHRNA2 | c.841T>C (p.Cys281Arg) c.*671T>C (n.*671T>C) c.796T>C (p.Cys266Arg) n.290-1848T>C c.775T>C (p.Cys259Arg) c.*243T>C (n.*243T>C) c.364T>C (p.Cys122Arg) c.247T>C (p.Cys83Arg) | |
| 8 | g.27463602A>T | CA370810528 | CHRNA2 | c.841T>A (p.Cys281Ser) c.*671T>A (n.*671T>A) c.796T>A (p.Cys266Ser) n.290-1848T>A c.775T>A (p.Cys259Ser) c.*243T>A (n.*243T>A) c.364T>A (p.Cys122Ser) c.247T>A (p.Cys83Ser) | |
| 8 | g.27463603G>A | CA460186836 | CHRNA2 | c.840C>T (p.Ser280=) c.*670C>T (n.*670C>T) c.795C>T (p.Ser265=) n.290-1849C>T c.774C>T (p.Ser258=) c.*242C>T (n.*242C>T) c.363C>T (p.Ser121=) c.246C>T (p.Ser82=) | |
| 8 | g.27463603G>C | CA460186837 | CHRNA2 | c.840C>G (p.Ser280=) c.*670C>G (n.*670C>G) c.795C>G (p.Ser265=) n.290-1849C>G c.774C>G (p.Ser258=) c.*242C>G (n.*242C>G) c.363C>G (p.Ser121=) c.246C>G (p.Ser82=) | |
| 8 | g.27463603G>T | CA460186838 | CHRNA2 | c.840C>A (p.Ser280=) c.*670C>A (n.*670C>A) c.795C>A (p.Ser265=) n.290-1849C>A c.774C>A (p.Ser258=) c.*242C>A (n.*242C>A) c.363C>A (p.Ser121=) c.246C>A (p.Ser82=) | |
| 8 | g.27463604G>A | CA370810529 | CHRNA2 | c.839C>T (p.Ser280Phe) c.*669C>T (n.*669C>T) c.794C>T (p.Ser265Phe) n.290-1850C>T c.773C>T (p.Ser258Phe) c.*241C>T (n.*241C>T) c.362C>T (p.Ser121Phe) c.245C>T (p.Ser82Phe) | |
| 8 | g.27463604G>C | CA370810531 | CHRNA2 | c.839C>G (p.Ser280Cys) c.*669C>G (n.*669C>G) c.794C>G (p.Ser265Cys) n.290-1850C>G c.773C>G (p.Ser258Cys) c.*241C>G (n.*241C>G) c.362C>G (p.Ser121Cys) c.245C>G (p.Ser82Cys) | |
| 8 | g.27463604G>T | CA370810532 | CHRNA2 | c.839C>A (p.Ser280Tyr) c.*669C>A (n.*669C>A) c.794C>A (p.Ser265Tyr) n.290-1850C>A c.773C>A (p.Ser258Tyr) c.*241C>A (n.*241C>A) c.362C>A (p.Ser121Tyr) c.245C>A (p.Ser82Tyr) | gnomAD v4 |
| 8 | g.27463605A>C | CA370810534 | CHRNA2 | c.838T>G (p.Ser280Ala) c.*668T>G (n.*668T>G) c.793T>G (p.Ser265Ala) n.290-1851T>G c.772T>G (p.Ser258Ala) c.*240T>G (n.*240T>G) c.361T>G (p.Ser121Ala) c.244T>G (p.Ser82Ala) | |
| 8 | g.27463605A>G | CA370810535 | CHRNA2 | c.838T>C (p.Ser280Pro) c.*668T>C (n.*668T>C) c.793T>C (p.Ser265Pro) n.290-1851T>C c.772T>C (p.Ser258Pro) c.*240T>C (n.*240T>C) c.361T>C (p.Ser121Pro) c.244T>C (p.Ser82Pro) | |
| 8 | g.27463605A>T | CA370810537 | CHRNA2 | c.838T>A (p.Ser280Thr) c.*668T>A (n.*668T>A) c.793T>A (p.Ser265Thr) n.290-1851T>A c.772T>A (p.Ser258Thr) c.*240T>A (n.*240T>A) c.361T>A (p.Ser121Thr) c.244T>A (p.Ser82Thr) | gnomAD v4 |
| 8 | g.27463608_27463643dup | CA2686678233 | CHRNA2 | c.803_838dup (p.Ile279_Ser280insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.*633_*668dup (n.*633_*668dup) c.758_793dup (p.Ile264_Ser265insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) n.290-1886_290-1851dup c.737_772dup (p.Ile257_Ser258insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.*205_*240dup (n.*205_*240dup) c.326_361dup (p.Ile120_Ser121insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) c.209_244dup (p.Ile81_Ser82insTyrThrIleAsnLeuIleIleProCysLeuLeuIle) | gnomAD v4 |
| 8 | g.27463606G>A | CA460186844 | CHRNA2 | c.837C>T (p.Ile279=) c.*667C>T (n.*667C>T) c.792C>T (p.Ile264=) n.290-1852C>T c.771C>T (p.Ile257=) c.*239C>T (n.*239C>T) c.360C>T (p.Ile120=) c.243C>T (p.Ile81=) | COSMIC |
| 8 | g.27463606G>C | CA370810539 | CHRNA2 | c.837C>G (p.Ile279Met) c.*667C>G (n.*667C>G) c.792C>G (p.Ile264Met) n.290-1852C>G c.771C>G (p.Ile257Met) c.*239C>G (n.*239C>G) c.360C>G (p.Ile120Met) c.243C>G (p.Ile81Met) | |
| 8 | g.27463606G>T | CA460186846 | CHRNA2 | c.837C>A (p.Ile279=) c.*667C>A (n.*667C>A) c.792C>A (p.Ile264=) n.290-1852C>A c.771C>A (p.Ile257=) c.*239C>A (n.*239C>A) c.360C>A (p.Ile120=) c.243C>A (p.Ile81=) | |
| 8 | g.27463607A= | CA1772814478 | CHRNA2 | c.836T= (p.Ile279=) c.*666T= (n.*666T=) c.791T= (p.Ile264=) n.290-1853T= c.770T= (p.Ile257=) c.*238T= (n.*238T=) c.359T= (p.Ile120=) c.242T= (p.Ile81=) | |
| 8 | g.27463607A>C | CA370810541 | CHRNA2 | c.836T>G (p.Ile279Ser) c.*666T>G (n.*666T>G) c.791T>G (p.Ile264Ser) n.290-1853T>G c.770T>G (p.Ile257Ser) c.*238T>G (n.*238T>G) c.359T>G (p.Ile120Ser) c.242T>G (p.Ile81Ser) | |
| 8 | g.27463607A>G | CA370810542 | CHRNA2 | c.836T>C (p.Ile279Thr) c.*666T>C (n.*666T>C) c.791T>C (p.Ile264Thr) n.290-1853T>C c.770T>C (p.Ile257Thr) c.*238T>C (n.*238T>C) c.359T>C (p.Ile120Thr) c.242T>C (p.Ile81Thr) | |
| 8 | g.27463607A>T | CA341466 | CHRNA2 | c.836T>A (p.Ile279Asn) c.*666T>A (n.*666T>A) c.791T>A (p.Ile264Asn) n.290-1853T>A c.770T>A (p.Ile257Asn) c.*238T>A (n.*238T>A) c.359T>A (p.Ile120Asn) c.242T>A (p.Ile81Asn) | ClinVar dbSNP |
| 8 | g.27463608T>A | CA370810548 | CHRNA2 | c.835A>T (p.Ile279Phe) c.*665A>T (n.*665A>T) c.790A>T (p.Ile264Phe) n.290-1854A>T c.769A>T (p.Ile257Phe) c.*237A>T (n.*237A>T) c.358A>T (p.Ile120Phe) c.241A>T (p.Ile81Phe) | |
| 8 | g.27463608T>C | CA370810546 | CHRNA2 | c.835A>G (p.Ile279Val) c.*665A>G (n.*665A>G) c.790A>G (p.Ile264Val) n.290-1854A>G c.769A>G (p.Ile257Val) c.*237A>G (n.*237A>G) c.358A>G (p.Ile120Val) c.241A>G (p.Ile81Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.27463608T>G | CA370810547 | CHRNA2 | c.835A>C (p.Ile279Leu) c.*665A>C (n.*665A>C) c.790A>C (p.Ile264Leu) n.290-1854A>C c.769A>C (p.Ile257Leu) c.*237A>C (n.*237A>C) c.358A>C (p.Ile120Leu) c.241A>C (p.Ile81Leu) | |
| 8 | g.27463608T= | CA1772814480 | CHRNA2 | c.835A= (p.Ile279=) c.*665A= (n.*665A=) c.790A= (p.Ile264=) n.290-1854A= c.769A= (p.Ile257=) c.*237A= (n.*237A=) c.358A= (p.Ile120=) c.241A= (p.Ile81=) | |
| 8 | g.27463609G>A | CA174242237 | CHRNA2 | c.834C>T (p.Leu278=) c.*664C>T (n.*664C>T) c.789C>T (p.Leu263=) n.290-1855C>T c.768C>T (p.Leu256=) c.*236C>T (n.*236C>T) c.357C>T (p.Leu119=) c.240C>T (p.Leu80=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.27463609G>C | CA460186857 | CHRNA2 | c.834C>G (p.Leu278=) c.*664C>G (n.*664C>G) c.789C>G (p.Leu263=) n.290-1855C>G c.768C>G (p.Leu256=) c.*236C>G (n.*236C>G) c.357C>G (p.Leu119=) c.240C>G (p.Leu80=) | |
| 8 | g.27463609G= | CA1772814481 | CHRNA2 | c.834C= (p.Leu278=) c.*664C= (n.*664C=) c.789C= (p.Leu263=) n.290-1855C= c.768C= (p.Leu256=) c.*236C= (n.*236C=) c.357C= (p.Leu119=) c.240C= (p.Leu80=) | |
| 8 | g.27463609G>T | CA460186860 | CHRNA2 | c.834C>A (p.Leu278=) c.*664C>A (n.*664C>A) c.789C>A (p.Leu263=) n.290-1855C>A c.768C>A (p.Leu256=) c.*236C>A (n.*236C>A) c.357C>A (p.Leu119=) c.240C>A (p.Leu80=) | |
| 8 | g.27463610A>C | CA370810550 | CHRNA2 | c.833T>G (p.Leu278Arg) c.*663T>G (n.*663T>G) c.788T>G (p.Leu263Arg) n.290-1856T>G c.767T>G (p.Leu256Arg) c.*235T>G (n.*235T>G) c.356T>G (p.Leu119Arg) c.239T>G (p.Leu80Arg) | |
| 8 | g.27463610A>G | CA370810552 | CHRNA2 | c.833T>C (p.Leu278Pro) c.*663T>C (n.*663T>C) c.788T>C (p.Leu263Pro) n.290-1856T>C c.767T>C (p.Leu256Pro) c.*235T>C (n.*235T>C) c.356T>C (p.Leu119Pro) c.239T>C (p.Leu80Pro) | |
| 8 | g.27463610A>T | CA370810554 | CHRNA2 | c.833T>A (p.Leu278His) c.*663T>A (n.*663T>A) c.788T>A (p.Leu263His) n.290-1856T>A c.767T>A (p.Leu256His) c.*235T>A (n.*235T>A) c.356T>A (p.Leu119His) c.239T>A (p.Leu80His) | |
| 8 | g.27463611G>A | CA370810555 | CHRNA2 | c.832C>T (p.Leu278Phe) c.*662C>T (n.*662C>T) c.787C>T (p.Leu263Phe) n.290-1857C>T c.766C>T (p.Leu256Phe) c.*234C>T (n.*234C>T) c.355C>T (p.Leu119Phe) c.238C>T (p.Leu80Phe) | gnomAD v4 |
| 8 | g.27463611G>C | CA370810556 | CHRNA2 | c.832C>G (p.Leu278Val) c.*662C>G (n.*662C>G) c.787C>G (p.Leu263Val) n.290-1857C>G c.766C>G (p.Leu256Val) c.*234C>G (n.*234C>G) c.355C>G (p.Leu119Val) c.238C>G (p.Leu80Val) | |
| 8 | g.27463611G>T | CA370810557 | CHRNA2 | c.832C>A (p.Leu278Ile) c.*662C>A (n.*662C>A) c.787C>A (p.Leu263Ile) n.290-1857C>A c.766C>A (p.Leu256Ile) c.*234C>A (n.*234C>A) c.355C>A (p.Leu119Ile) c.238C>A (p.Leu80Ile) | |
| 8 | g.27463611dup | CA2686678234 | CHRNA2 | c.832dup (p.Leu278ProfsTer?) c.*662dup (n.*662dup) c.787dup (p.Leu263ProfsTer?) n.290-1857dup c.766dup (p.Leu256ProfsTer?) c.*234dup (n.*234dup) c.355dup (p.Leu119ProfsTer?) c.238dup (p.Leu80ProfsTer?) | gnomAD v4 |
| 8 | g.27463612C>A | CA460186072 | CHRNA2 | c.831G>T (p.Leu277=) c.*661G>T (n.*661G>T) c.786G>T (p.Leu262=) n.290-1858G>T c.765G>T (p.Leu255=) c.*233G>T (n.*233G>T) c.354G>T (p.Leu118=) c.237G>T (p.Leu79=) | |
| 8 | g.27463612C>G | CA460186074 | CHRNA2 | c.831G>C (p.Leu277=) c.*661G>C (n.*661G>C) c.786G>C (p.Leu262=) n.290-1858G>C c.765G>C (p.Leu255=) c.*233G>C (n.*233G>C) c.354G>C (p.Leu118=) c.237G>C (p.Leu79=) | |
| 8 | g.27463612C>T | CA460186075 | CHRNA2 | c.831G>A (p.Leu277=) c.*661G>A (n.*661G>A) c.786G>A (p.Leu262=) n.290-1858G>A c.765G>A (p.Leu255=) c.*233G>A (n.*233G>A) c.354G>A (p.Leu118=) c.237G>A (p.Leu79=) | gnomAD v4 |
| 8 | g.27463613A>C | CA370810559 | CHRNA2 | c.830T>G (p.Leu277Arg) c.*660T>G (n.*660T>G) c.785T>G (p.Leu262Arg) n.290-1859T>G c.764T>G (p.Leu255Arg) c.*232T>G (n.*232T>G) c.353T>G (p.Leu118Arg) c.236T>G (p.Leu79Arg) | |
| 8 | g.27463613A>G | CA370810561 | CHRNA2 | c.830T>C (p.Leu277Pro) c.*660T>C (n.*660T>C) c.785T>C (p.Leu262Pro) n.290-1859T>C c.764T>C (p.Leu255Pro) c.*232T>C (n.*232T>C) c.353T>C (p.Leu118Pro) c.236T>C (p.Leu79Pro) | |
| 8 | g.27463613A>T | CA370810562 | CHRNA2 | c.830T>A (p.Leu277Gln) c.*660T>A (n.*660T>A) c.785T>A (p.Leu262Gln) n.290-1859T>A c.764T>A (p.Leu255Gln) c.*232T>A (n.*232T>A) c.353T>A (p.Leu118Gln) c.236T>A (p.Leu79Gln) |