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 |
|---|---|---|---|---|---|
| 2 | g.174750035C>A | CA349336346 | CHRNA1 | c.424G>T (p.Val142Phe) c.988G>T (p.Val330Phe) c.913G>T (p.Val305Phe) c.667G>T (p.Val223Phe) c.*557G>T (n.*557G>T) c.1009G>T (p.Val337Phe) c.934G>T (p.Val312Phe) | |
| 2 | g.174750035C= | CA1308832538 | CHRNA1 | c.424G= (p.Val142=) c.988G= (p.Val330=) c.913G= (p.Val305=) c.667G= (p.Val223=) c.*557G= (n.*557G=) c.1009G= (p.Val337=) c.934G= (p.Val312=) | |
| 2 | g.174750035C>G | CA349336343 | CHRNA1 | c.424G>C (p.Val142Leu) c.988G>C (p.Val330Leu) c.913G>C (p.Val305Leu) c.667G>C (p.Val223Leu) c.*557G>C (n.*557G>C) c.1009G>C (p.Val337Leu) c.934G>C (p.Val312Leu) | |
| 2 | g.174750035C>T | CA128076 | CHRNA1 | c.424G>A (p.Val142Ile) c.988G>A (p.Val330Ile) c.913G>A (p.Val305Ile) c.667G>A (p.Val223Ile) c.*557G>A (n.*557G>A) c.1009G>A (p.Val337Ile) c.934G>A (p.Val312Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174750036G>A | CA1974426 | CHRNA1 | c.423C>T (p.Phe141=) c.987C>T (p.Phe329=) c.912C>T (p.Phe304=) c.666C>T (p.Phe222=) c.*556C>T (n.*556C>T) c.1008C>T (p.Phe336=) c.933C>T (p.Phe311=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750036G>C | CA349336350 | CHRNA1 | c.423C>G (p.Phe141Leu) c.987C>G (p.Phe329Leu) c.912C>G (p.Phe304Leu) c.666C>G (p.Phe222Leu) c.*556C>G (n.*556C>G) c.1008C>G (p.Phe336Leu) c.933C>G (p.Phe311Leu) | |
| 2 | g.174750036G= | CA1308832539 | CHRNA1 | c.423C= (p.Phe141=) c.987C= (p.Phe329=) c.912C= (p.Phe304=) c.666C= (p.Phe222=) c.*556C= (n.*556C=) c.1008C= (p.Phe336=) c.933C= (p.Phe311=) | |
| 2 | g.174750036G>T | CA349336355 | CHRNA1 | c.423C>A (p.Phe141Leu) c.987C>A (p.Phe329Leu) c.912C>A (p.Phe304Leu) c.666C>A (p.Phe222Leu) c.*556C>A (n.*556C>A) c.1008C>A (p.Phe336Leu) c.933C>A (p.Phe311Leu) | |
| 2 | g.174750037A= | CA1308832540 | CHRNA1 | c.422T= (p.Phe141=) c.986T= (p.Phe329=) c.911T= (p.Phe304=) c.665T= (p.Phe222=) c.*555T= (n.*555T=) c.1007T= (p.Phe336=) c.932T= (p.Phe311=) | |
| 2 | g.174750037A>C | CA349336358 | CHRNA1 | c.422T>G (p.Phe141Cys) c.986T>G (p.Phe329Cys) c.911T>G (p.Phe304Cys) c.665T>G (p.Phe222Cys) c.*555T>G (n.*555T>G) c.1007T>G (p.Phe336Cys) c.932T>G (p.Phe311Cys) | |
| 2 | g.174750037A>G | CA349336360 | CHRNA1 | c.422T>C (p.Phe141Ser) c.986T>C (p.Phe329Ser) c.911T>C (p.Phe304Ser) c.665T>C (p.Phe222Ser) c.*555T>C (n.*555T>C) c.1007T>C (p.Phe336Ser) c.932T>C (p.Phe311Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750037A>T | CA349336361 | CHRNA1 | c.422T>A (p.Phe141Tyr) c.986T>A (p.Phe329Tyr) c.911T>A (p.Phe304Tyr) c.665T>A (p.Phe222Tyr) c.*555T>A (n.*555T>A) c.1007T>A (p.Phe336Tyr) c.932T>A (p.Phe311Tyr) | |
| 2 | g.174750038A>C | CA349336369 | CHRNA1 | c.421T>G (p.Phe141Val) c.985T>G (p.Phe329Val) c.910T>G (p.Phe304Val) c.664T>G (p.Phe222Val) c.*554T>G (n.*554T>G) c.1006T>G (p.Phe336Val) c.931T>G (p.Phe311Val) | |
| 2 | g.174750038A>G | CA349336375 | CHRNA1 | c.421T>C (p.Phe141Leu) c.985T>C (p.Phe329Leu) c.910T>C (p.Phe304Leu) c.664T>C (p.Phe222Leu) c.*554T>C (n.*554T>C) c.1006T>C (p.Phe336Leu) c.931T>C (p.Phe311Leu) | |
| 2 | g.174750038A>T | CA349336373 | CHRNA1 | c.421T>A (p.Phe141Ile) c.985T>A (p.Phe329Ile) c.910T>A (p.Phe304Ile) c.664T>A (p.Phe222Ile) c.*554T>A (n.*554T>A) c.1006T>A (p.Phe336Ile) c.931T>A (p.Phe311Ile) | |
| 2 | g.174750039C>A | CA430022327 | CHRNA1 | c.420G>T (p.Val140=) c.984G>T (p.Val328=) c.909G>T (p.Val303=) c.663G>T (p.Val221=) c.*553G>T (n.*553G>T) c.1005G>T (p.Val335=) c.930G>T (p.Val310=) | |
| 2 | g.174750039C= | CA1308832541 | CHRNA1 | c.420G= (p.Val140=) c.984G= (p.Val328=) c.909G= (p.Val303=) c.663G= (p.Val221=) c.*553G= (n.*553G=) c.1005G= (p.Val335=) c.930G= (p.Val310=) | |
| 2 | g.174750039C>G | CA430022328 | CHRNA1 | c.420G>C (p.Val140=) c.984G>C (p.Val328=) c.909G>C (p.Val303=) c.663G>C (p.Val221=) c.*553G>C (n.*553G>C) c.1005G>C (p.Val335=) c.930G>C (p.Val310=) | |
| 2 | g.174750039C>T | CA430022329 | CHRNA1 | c.420G>A (p.Val140=) c.984G>A (p.Val328=) c.909G>A (p.Val303=) c.663G>A (p.Val221=) c.*553G>A (n.*553G>A) c.1005G>A (p.Val335=) c.930G>A (p.Val310=) | dbSNP gnomAD v2 |
| 2 | g.174750040A>C | CA349336377 | CHRNA1 | c.419T>G (p.Val140Gly) c.983T>G (p.Val328Gly) c.908T>G (p.Val303Gly) c.662T>G (p.Val221Gly) c.*552T>G (n.*552T>G) c.1004T>G (p.Val335Gly) c.929T>G (p.Val310Gly) | |
| 2 | g.174750040A>G | CA349336380 | CHRNA1 | c.419T>C (p.Val140Ala) c.983T>C (p.Val328Ala) c.908T>C (p.Val303Ala) c.662T>C (p.Val221Ala) c.*552T>C (n.*552T>C) c.1004T>C (p.Val335Ala) c.929T>C (p.Val310Ala) | |
| 2 | g.174750040A>T | CA349336381 | CHRNA1 | c.419T>A (p.Val140Glu) c.983T>A (p.Val328Glu) c.908T>A (p.Val303Glu) c.662T>A (p.Val221Glu) c.*552T>A (n.*552T>A) c.1004T>A (p.Val335Glu) c.929T>A (p.Val310Glu) | |
| 2 | g.174750041C>A | CA349336382 | CHRNA1 | c.418G>T (p.Val140Leu) c.982G>T (p.Val328Leu) c.907G>T (p.Val303Leu) c.661G>T (p.Val221Leu) c.*551G>T (n.*551G>T) c.1003G>T (p.Val335Leu) c.928G>T (p.Val310Leu) | |
| 2 | g.174750041C>G | CA349336383 | CHRNA1 | c.418G>C (p.Val140Leu) c.982G>C (p.Val328Leu) c.907G>C (p.Val303Leu) c.661G>C (p.Val221Leu) c.*551G>C (n.*551G>C) c.1003G>C (p.Val335Leu) c.928G>C (p.Val310Leu) | |
| 2 | g.174750041C>T | CA349336385 | CHRNA1 | c.418G>A (p.Val140Met) c.982G>A (p.Val328Met) c.907G>A (p.Val303Met) c.661G>A (p.Val221Met) c.*551G>A (n.*551G>A) c.1003G>A (p.Val335Met) c.928G>A (p.Val310Met) | |
| 2 | g.174750042C>A | CA349336388 | CHRNA1 | c.417G>T (p.Met139Ile) c.981G>T (p.Met327Ile) c.906G>T (p.Met302Ile) c.660G>T (p.Met220Ile) c.*550G>T (n.*550G>T) c.1002G>T (p.Met334Ile) c.927G>T (p.Met309Ile) | |
| 2 | g.174750042C>G | CA349336393 | CHRNA1 | c.417G>C (p.Met139Ile) c.981G>C (p.Met327Ile) c.906G>C (p.Met302Ile) c.660G>C (p.Met220Ile) c.*550G>C (n.*550G>C) c.1002G>C (p.Met334Ile) c.927G>C (p.Met309Ile) | |
| 2 | g.174750042C>T | CA349336394 | CHRNA1 | c.417G>A (p.Met139Ile) c.981G>A (p.Met327Ile) c.906G>A (p.Met302Ile) c.660G>A (p.Met220Ile) c.*550G>A (n.*550G>A) c.1002G>A (p.Met334Ile) c.927G>A (p.Met309Ile) | COSMIC |
| 2 | g.174750043A>C | CA349336396 | CHRNA1 | c.416T>G (p.Met139Arg) c.980T>G (p.Met327Arg) c.905T>G (p.Met302Arg) c.659T>G (p.Met220Arg) c.*549T>G (n.*549T>G) c.1001T>G (p.Met334Arg) c.926T>G (p.Met309Arg) | |
| 2 | g.174750043A>G | CA349336398 | CHRNA1 | c.416T>C (p.Met139Thr) c.980T>C (p.Met327Thr) c.905T>C (p.Met302Thr) c.659T>C (p.Met220Thr) c.*549T>C (n.*549T>C) c.1001T>C (p.Met334Thr) c.926T>C (p.Met309Thr) | gnomAD v4 COSMIC |
| 2 | g.174750043A>T | CA349336399 | CHRNA1 | c.416T>A (p.Met139Lys) c.980T>A (p.Met327Lys) c.905T>A (p.Met302Lys) c.659T>A (p.Met220Lys) c.*549T>A (n.*549T>A) c.1001T>A (p.Met334Lys) c.926T>A (p.Met309Lys) | ClinVar dbSNP |
| 2 | g.174750044T>A | CA349336402 | CHRNA1 | c.415A>T (p.Met139Leu) c.979A>T (p.Met327Leu) c.904A>T (p.Met302Leu) c.658A>T (p.Met220Leu) c.*548A>T (n.*548A>T) c.1000A>T (p.Met334Leu) c.925A>T (p.Met309Leu) | |
| 2 | g.174750044T>C | CA349336409 | CHRNA1 | c.415A>G (p.Met139Val) c.979A>G (p.Met327Val) c.904A>G (p.Met302Val) c.658A>G (p.Met220Val) c.*548A>G (n.*548A>G) c.1000A>G (p.Met334Val) c.925A>G (p.Met309Val) | gnomAD v4 |
| 2 | g.174750044T>G | CA349336407 | CHRNA1 | c.415A>C (p.Met139Leu) c.979A>C (p.Met327Leu) c.904A>C (p.Met302Leu) c.658A>C (p.Met220Leu) c.*548A>C (n.*548A>C) c.1000A>C (p.Met334Leu) c.925A>C (p.Met309Leu) | |
| 2 | g.174750044_174750045delinsTG | CA1308832542 | CHRNA1 | c.414_415delinsCA (p.Thr138=) c.978_979delinsCA (p.Thr326=) c.903_904delinsCA (p.Thr301=) c.657_658delinsCA (p.Thr219=) c.*547_*548delinsCA (n.*547_*548delinsCA) c.999_1000delinsCA (p.Thr333=) c.924_925delinsCA (p.Thr308=) | |
| 2 | g.174750045G>A | CA430022334 | CHRNA1 | c.414C>T (p.Thr138=) c.978C>T (p.Thr326=) c.903C>T (p.Thr301=) c.657C>T (p.Thr219=) c.*547C>T (n.*547C>T) c.999C>T (p.Thr333=) c.924C>T (p.Thr308=) | dbSNP gnomAD v4 |
| 2 | g.174750045G>C | CA430022335 | CHRNA1 | c.414C>G (p.Thr138=) c.978C>G (p.Thr326=) c.903C>G (p.Thr301=) c.657C>G (p.Thr219=) c.*547C>G (n.*547C>G) c.999C>G (p.Thr333=) c.924C>G (p.Thr308=) | |
| 2 | g.174750045G= | CA1308832543 | CHRNA1 | c.414C= (p.Thr138=) c.978C= (p.Thr326=) c.903C= (p.Thr301=) c.657C= (p.Thr219=) c.*547C= (n.*547C=) c.999C= (p.Thr333=) c.924C= (p.Thr308=) | |
| 2 | g.174750045G>T | CA430022336 | CHRNA1 | c.414C>A (p.Thr138=) c.978C>A (p.Thr326=) c.903C>A (p.Thr301=) c.657C>A (p.Thr219=) c.*547C>A (n.*547C>A) c.999C>A (p.Thr333=) c.924C>A (p.Thr308=) | |
| 2 | g.174750046del | CA537763874 | CHRNA1 | c.414del (p.Met139TrpfsTer?) c.978del (p.Met327TrpfsTer?) c.903del (p.Met302TrpfsTer?) c.657del (p.Met220TrpfsTer?) c.*547del (n.*547del) c.999del (p.Met334TrpfsTer?) c.924del (p.Met309TrpfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750046G>A | CA349336413 | CHRNA1 | c.413C>T (p.Thr138Ile) c.977C>T (p.Thr326Ile) c.902C>T (p.Thr301Ile) c.656C>T (p.Thr219Ile) c.*546C>T (n.*546C>T) c.998C>T (p.Thr333Ile) c.923C>T (p.Thr308Ile) | gnomAD v4 |
| 2 | g.174750046G>C | CA349336418 | CHRNA1 | c.413C>G (p.Thr138Ser) c.977C>G (p.Thr326Ser) c.902C>G (p.Thr301Ser) c.656C>G (p.Thr219Ser) c.*546C>G (n.*546C>G) c.998C>G (p.Thr333Ser) c.923C>G (p.Thr308Ser) | ClinVar dbSNP |
| 2 | g.174750046G>T | CA349336421 | CHRNA1 | c.413C>A (p.Thr138Asn) c.977C>A (p.Thr326Asn) c.902C>A (p.Thr301Asn) c.656C>A (p.Thr219Asn) c.*546C>A (n.*546C>A) c.998C>A (p.Thr333Asn) c.923C>A (p.Thr308Asn) | ClinVar dbSNP |
| 2 | g.174750047T>A | CA349336423 | CHRNA1 | c.412A>T (p.Thr138Ser) c.976A>T (p.Thr326Ser) c.901A>T (p.Thr301Ser) c.655A>T (p.Thr219Ser) c.*545A>T (n.*545A>T) c.997A>T (p.Thr333Ser) c.922A>T (p.Thr308Ser) | |
| 2 | g.174750047T>C | CA349336426 | CHRNA1 | c.412A>G (p.Thr138Ala) c.976A>G (p.Thr326Ala) c.901A>G (p.Thr301Ala) c.655A>G (p.Thr219Ala) c.*545A>G (n.*545A>G) c.997A>G (p.Thr333Ala) c.922A>G (p.Thr308Ala) | ClinVar dbSNP |
| 2 | g.174750047T>G | CA349336427 | CHRNA1 | c.412A>C (p.Thr138Pro) c.976A>C (p.Thr326Pro) c.901A>C (p.Thr301Pro) c.655A>C (p.Thr219Pro) c.*545A>C (n.*545A>C) c.997A>C (p.Thr333Pro) c.922A>C (p.Thr308Pro) | |
| 2 | g.174750047T= | CA1308832544 | CHRNA1 | c.412A= (p.Thr138=) c.976A= (p.Thr326=) c.901A= (p.Thr301=) c.655A= (p.Thr219=) c.*545A= (n.*545A=) c.997A= (p.Thr333=) c.922A= (p.Thr308=) | |
| 2 | g.174750048G>A | CA430022340 | CHRNA1 | c.411C>T (p.Phe137=) c.975C>T (p.Phe325=) c.900C>T (p.Phe300=) c.654C>T (p.Phe218=) c.*544C>T (n.*544C>T) c.996C>T (p.Phe332=) c.921C>T (p.Phe307=) | |
| 2 | g.174750048G>C | CA349336430 | CHRNA1 | c.411C>G (p.Phe137Leu) c.975C>G (p.Phe325Leu) c.900C>G (p.Phe300Leu) c.654C>G (p.Phe218Leu) c.*544C>G (n.*544C>G) c.996C>G (p.Phe332Leu) c.921C>G (p.Phe307Leu) | |
| 2 | g.174750048G>T | CA349336434 | CHRNA1 | c.411C>A (p.Phe137Leu) c.975C>A (p.Phe325Leu) c.900C>A (p.Phe300Leu) c.654C>A (p.Phe218Leu) c.*544C>A (n.*544C>A) c.996C>A (p.Phe332Leu) c.921C>A (p.Phe307Leu) | |
| 2 | g.174750049A>C | CA349336437 | CHRNA1 | c.410T>G (p.Phe137Cys) c.974T>G (p.Phe325Cys) c.899T>G (p.Phe300Cys) c.653T>G (p.Phe218Cys) c.*543T>G (n.*543T>G) c.995T>G (p.Phe332Cys) c.920T>G (p.Phe307Cys) | COSMIC |
| 2 | g.174750049A>G | CA349336439 | CHRNA1 | c.410T>C (p.Phe137Ser) c.974T>C (p.Phe325Ser) c.899T>C (p.Phe300Ser) c.653T>C (p.Phe218Ser) c.*543T>C (n.*543T>C) c.995T>C (p.Phe332Ser) c.920T>C (p.Phe307Ser) | |
| 2 | g.174750049A>T | CA349336441 | CHRNA1 | c.410T>A (p.Phe137Tyr) c.974T>A (p.Phe325Tyr) c.899T>A (p.Phe300Tyr) c.653T>A (p.Phe218Tyr) c.*543T>A (n.*543T>A) c.995T>A (p.Phe332Tyr) c.920T>A (p.Phe307Tyr) | |
| 2 | g.174750050A>C | CA349336450 | CHRNA1 | c.409T>G (p.Phe137Val) c.973T>G (p.Phe325Val) c.898T>G (p.Phe300Val) c.652T>G (p.Phe218Val) c.*542T>G (n.*542T>G) c.994T>G (p.Phe332Val) c.919T>G (p.Phe307Val) | |
| 2 | g.174750050A>G | CA349336446 | CHRNA1 | c.409T>C (p.Phe137Leu) c.973T>C (p.Phe325Leu) c.898T>C (p.Phe300Leu) c.652T>C (p.Phe218Leu) c.*542T>C (n.*542T>C) c.994T>C (p.Phe332Leu) c.919T>C (p.Phe307Leu) | |
| 2 | g.174750050A>T | CA349336444 | CHRNA1 | c.409T>A (p.Phe137Ile) c.973T>A (p.Phe325Ile) c.898T>A (p.Phe300Ile) c.652T>A (p.Phe218Ile) c.*542T>A (n.*542T>A) c.994T>A (p.Phe332Ile) c.919T>A (p.Phe307Ile) | |
| 2 | g.174750051C>A | CA430022341 | CHRNA1 | c.408G>T (p.Leu136=) c.972G>T (p.Leu324=) c.897G>T (p.Leu299=) c.651G>T (p.Leu217=) c.*541G>T (n.*541G>T) c.993G>T (p.Leu331=) c.918G>T (p.Leu306=) | |
| 2 | g.174750051C= | CA1308832545 | CHRNA1 | c.408G= (p.Leu136=) c.972G= (p.Leu324=) c.897G= (p.Leu299=) c.651G= (p.Leu217=) c.*541G= (n.*541G=) c.993G= (p.Leu331=) c.918G= (p.Leu306=) | |
| 2 | g.174750051C>G | CA430022342 | CHRNA1 | c.408G>C (p.Leu136=) c.972G>C (p.Leu324=) c.897G>C (p.Leu299=) c.651G>C (p.Leu217=) c.*541G>C (n.*541G>C) c.993G>C (p.Leu331=) c.918G>C (p.Leu306=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174750051C>T | CA430022343 | CHRNA1 | c.408G>A (p.Leu136=) c.972G>A (p.Leu324=) c.897G>A (p.Leu299=) c.651G>A (p.Leu217=) c.*541G>A (n.*541G>A) c.993G>A (p.Leu331=) c.918G>A (p.Leu306=) | |
| 2 | g.174750052A>C | CA349336454 | CHRNA1 | c.407T>G (p.Leu136Arg) c.971T>G (p.Leu324Arg) c.896T>G (p.Leu299Arg) c.650T>G (p.Leu217Arg) c.*540T>G (n.*540T>G) c.992T>G (p.Leu331Arg) c.917T>G (p.Leu306Arg) | |
| 2 | g.174750052A>G | CA349336459 | CHRNA1 | c.407T>C (p.Leu136Pro) c.971T>C (p.Leu324Pro) c.896T>C (p.Leu299Pro) c.650T>C (p.Leu217Pro) c.*540T>C (n.*540T>C) c.992T>C (p.Leu331Pro) c.917T>C (p.Leu306Pro) | |
| 2 | g.174750052A>T | CA349336462 | CHRNA1 | c.407T>A (p.Leu136Gln) c.971T>A (p.Leu324Gln) c.896T>A (p.Leu299Gln) c.650T>A (p.Leu217Gln) c.*540T>A (n.*540T>A) c.992T>A (p.Leu331Gln) c.917T>A (p.Leu306Gln) | |
| 2 | g.174750053G>A | CA1974427 | CHRNA1 | c.406C>T (p.Leu136=) c.970C>T (p.Leu324=) c.895C>T (p.Leu299=) c.649C>T (p.Leu217=) c.*539C>T (n.*539C>T) c.991C>T (p.Leu331=) c.916C>T (p.Leu306=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750053G>C | CA349336470 | CHRNA1 | c.406C>G (p.Leu136Val) c.970C>G (p.Leu324Val) c.895C>G (p.Leu299Val) c.649C>G (p.Leu217Val) c.*539C>G (n.*539C>G) c.991C>G (p.Leu331Val) c.916C>G (p.Leu306Val) | |
| 2 | g.174750053G= | CA1308832546 | CHRNA1 | c.406C= (p.Leu136=) c.970C= (p.Leu324=) c.895C= (p.Leu299=) c.649C= (p.Leu217=) c.*539C= (n.*539C=) c.991C= (p.Leu331=) c.916C= (p.Leu306=) | |
| 2 | g.174750053G>T | CA349336473 | CHRNA1 | c.406C>A (p.Leu136Met) c.970C>A (p.Leu324Met) c.895C>A (p.Leu299Met) c.649C>A (p.Leu217Met) c.*539C>A (n.*539C>A) c.991C>A (p.Leu331Met) c.916C>A (p.Leu306Met) | |
| 2 | g.174750054C>A | CA349336477 | CHRNA1 | c.405G>T (p.Met135Ile) c.969G>T (p.Met323Ile) c.894G>T (p.Met298Ile) c.648G>T (p.Met216Ile) c.*538G>T (n.*538G>T) c.990G>T (p.Met330Ile) c.915G>T (p.Met305Ile) | COSMIC |
| 2 | g.174750054C= | CA1308832547 | CHRNA1 | c.405G= (p.Met135=) c.969G= (p.Met323=) c.894G= (p.Met298=) c.648G= (p.Met216=) c.*538G= (n.*538G=) c.990G= (p.Met330=) c.915G= (p.Met305=) | |
| 2 | g.174750054C>G | CA349336479 | CHRNA1 | c.405G>C (p.Met135Ile) c.969G>C (p.Met323Ile) c.894G>C (p.Met298Ile) c.648G>C (p.Met216Ile) c.*538G>C (n.*538G>C) c.990G>C (p.Met330Ile) c.915G>C (p.Met305Ile) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.174750054C>T | CA349336483 | CHRNA1 | c.405G>A (p.Met135Ile) c.969G>A (p.Met323Ile) c.894G>A (p.Met298Ile) c.648G>A (p.Met216Ile) c.*538G>A (n.*538G>A) c.990G>A (p.Met330Ile) c.915G>A (p.Met305Ile) | |
| 2 | g.174750055A= | CA1308832548 | CHRNA1 | c.404T= (p.Met135=) c.968T= (p.Met323=) c.893T= (p.Met298=) c.647T= (p.Met216=) c.*537T= (n.*537T=) c.989T= (p.Met330=) c.914T= (p.Met305=) | |
| 2 | g.174750055A>C | CA349336486 | CHRNA1 | c.404T>G (p.Met135Arg) c.968T>G (p.Met323Arg) c.893T>G (p.Met298Arg) c.647T>G (p.Met216Arg) c.*537T>G (n.*537T>G) c.989T>G (p.Met330Arg) c.914T>G (p.Met305Arg) | |
| 2 | g.174750055A>G | CA349336490 | CHRNA1 | c.404T>C (p.Met135Thr) c.968T>C (p.Met323Thr) c.893T>C (p.Met298Thr) c.647T>C (p.Met216Thr) c.*537T>C (n.*537T>C) c.989T>C (p.Met330Thr) c.914T>C (p.Met305Thr) | ClinVar dbSNP |
| 2 | g.174750055A>T | CA349336493 | CHRNA1 | c.404T>A (p.Met135Lys) c.968T>A (p.Met323Lys) c.893T>A (p.Met298Lys) c.647T>A (p.Met216Lys) c.*537T>A (n.*537T>A) c.989T>A (p.Met330Lys) c.914T>A (p.Met305Lys) | COSMIC |
| 2 | g.174750056T>A | CA349336501 | CHRNA1 | c.403A>T (p.Met135Leu) c.967A>T (p.Met323Leu) c.892A>T (p.Met298Leu) c.646A>T (p.Met216Leu) c.*536A>T (n.*536A>T) c.988A>T (p.Met330Leu) c.913A>T (p.Met305Leu) | |
| 2 | g.174750056T>C | CA1974428 | CHRNA1 | c.403A>G (p.Met135Val) c.967A>G (p.Met323Val) c.892A>G (p.Met298Val) c.646A>G (p.Met216Val) c.*536A>G (n.*536A>G) c.988A>G (p.Met330Val) c.913A>G (p.Met305Val) | dbSNP ExAC gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.174750056T>G | CA349336496 | CHRNA1 | c.403A>C (p.Met135Leu) c.967A>C (p.Met323Leu) c.892A>C (p.Met298Leu) c.646A>C (p.Met216Leu) c.*536A>C (n.*536A>C) c.988A>C (p.Met330Leu) c.913A>C (p.Met305Leu) | |
| 2 | g.174750056T= | CA1308832549 | CHRNA1 | c.403A= (p.Met135=) c.967A= (p.Met323=) c.892A= (p.Met298=) c.646A= (p.Met216=) c.*536A= (n.*536A=) c.988A= (p.Met330=) c.913A= (p.Met305=) | |
| 2 | g.174750057G>A | CA430022350 | CHRNA1 | c.402C>T (p.Tyr134=) c.966C>T (p.Tyr322=) c.891C>T (p.Tyr297=) c.645C>T (p.Tyr215=) c.*535C>T (n.*535C>T) c.987C>T (p.Tyr329=) c.912C>T (p.Tyr304=) | |
| 2 | g.174750057G>C | CA349336503 | CHRNA1 | c.402C>G (p.Tyr134Ter) c.966C>G (p.Tyr322Ter) c.891C>G (p.Tyr297Ter) c.645C>G (p.Tyr215Ter) c.*535C>G (n.*535C>G) c.987C>G (p.Tyr329Ter) c.912C>G (p.Tyr304Ter) | |
| 2 | g.174750057G>T | CA349336506 | CHRNA1 | c.402C>A (p.Tyr134Ter) c.966C>A (p.Tyr322Ter) c.891C>A (p.Tyr297Ter) c.645C>A (p.Tyr215Ter) c.*535C>A (n.*535C>A) c.987C>A (p.Tyr329Ter) c.912C>A (p.Tyr304Ter) | |
| 2 | g.174750058T>A | CA349336508 | CHRNA1 | c.401A>T (p.Tyr134Phe) c.965A>T (p.Tyr322Phe) c.890A>T (p.Tyr297Phe) c.644A>T (p.Tyr215Phe) c.*534A>T (n.*534A>T) c.986A>T (p.Tyr329Phe) c.911A>T (p.Tyr304Phe) | |
| 2 | g.174750058T>C | CA349336513 | CHRNA1 | c.401A>G (p.Tyr134Cys) c.965A>G (p.Tyr322Cys) c.890A>G (p.Tyr297Cys) c.644A>G (p.Tyr215Cys) c.*534A>G (n.*534A>G) c.986A>G (p.Tyr329Cys) c.911A>G (p.Tyr304Cys) | COSMIC |
| 2 | g.174750058T>G | CA349336510 | CHRNA1 | c.401A>C (p.Tyr134Ser) c.965A>C (p.Tyr322Ser) c.890A>C (p.Tyr297Ser) c.644A>C (p.Tyr215Ser) c.*534A>C (n.*534A>C) c.986A>C (p.Tyr329Ser) c.911A>C (p.Tyr304Ser) | COSMIC |
| 2 | g.174750059A= | CA1308832550 | CHRNA1 | c.400T= (p.Tyr134=) c.964T= (p.Tyr322=) c.889T= (p.Tyr297=) c.643T= (p.Tyr215=) c.*533T= (n.*533T=) c.985T= (p.Tyr329=) c.910T= (p.Tyr304=) | |
| 2 | g.174750059A>C | CA349336516 | CHRNA1 | c.400T>G (p.Tyr134Asp) c.964T>G (p.Tyr322Asp) c.889T>G (p.Tyr297Asp) c.643T>G (p.Tyr215Asp) c.*533T>G (n.*533T>G) c.985T>G (p.Tyr329Asp) c.910T>G (p.Tyr304Asp) | |
| 2 | g.174750059A>G | CA349336520 | CHRNA1 | c.400T>C (p.Tyr134His) c.964T>C (p.Tyr322His) c.889T>C (p.Tyr297His) c.643T>C (p.Tyr215His) c.*533T>C (n.*533T>C) c.985T>C (p.Tyr329His) c.910T>C (p.Tyr304His) | dbSNP |
| 2 | g.174750059A>T | CA349336517 | CHRNA1 | c.400T>A (p.Tyr134Asn) c.964T>A (p.Tyr322Asn) c.889T>A (p.Tyr297Asn) c.643T>A (p.Tyr215Asn) c.*533T>A (n.*533T>A) c.985T>A (p.Tyr329Asn) c.910T>A (p.Tyr304Asn) | |
| 2 | g.174750060T>A | CA1974429 | CHRNA1 | c.399A>T (p.Lys133Asn) c.963A>T (p.Lys321Asn) c.888A>T (p.Lys296Asn) c.642A>T (p.Lys214Asn) c.*532A>T (n.*532A>T) c.984A>T (p.Lys328Asn) c.909A>T (p.Lys303Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750060T>C | CA430022351 | CHRNA1 | c.399A>G (p.Lys133=) c.963A>G (p.Lys321=) c.888A>G (p.Lys296=) c.642A>G (p.Lys214=) c.*532A>G (n.*532A>G) c.984A>G (p.Lys328=) c.909A>G (p.Lys303=) | |
| 2 | g.174750060T>G | CA349336524 | CHRNA1 | c.399A>C (p.Lys133Asn) c.963A>C (p.Lys321Asn) c.888A>C (p.Lys296Asn) c.642A>C (p.Lys214Asn) c.*532A>C (n.*532A>C) c.984A>C (p.Lys328Asn) c.909A>C (p.Lys303Asn) | |
| 2 | g.174750060T= | CA1308832551 | CHRNA1 | c.399A= (p.Lys133=) c.963A= (p.Lys321=) c.888A= (p.Lys296=) c.642A= (p.Lys214=) c.*532A= (n.*532A=) c.984A= (p.Lys328=) c.909A= (p.Lys303=) | |
| 2 | g.174750061T>A | CA349336528 | CHRNA1 | c.398A>T (p.Lys133Ile) c.962A>T (p.Lys321Ile) c.887A>T (p.Lys296Ile) c.641A>T (p.Lys214Ile) c.*531A>T (n.*531A>T) c.983A>T (p.Lys328Ile) c.908A>T (p.Lys303Ile) | |
| 2 | g.174750061T>C | CA349336530 | CHRNA1 | c.398A>G (p.Lys133Arg) c.962A>G (p.Lys321Arg) c.887A>G (p.Lys296Arg) c.641A>G (p.Lys214Arg) c.*531A>G (n.*531A>G) c.983A>G (p.Lys328Arg) c.908A>G (p.Lys303Arg) | ClinVar |
| 2 | g.174750061T>G | CA349336531 | CHRNA1 | c.398A>C (p.Lys133Thr) c.962A>C (p.Lys321Thr) c.887A>C (p.Lys296Thr) c.641A>C (p.Lys214Thr) c.*531A>C (n.*531A>C) c.983A>C (p.Lys328Thr) c.908A>C (p.Lys303Thr) | |
| 2 | g.174750062T>A | CA349336533 | CHRNA1 | c.397A>T (p.Lys133Ter) c.961A>T (p.Lys321Ter) c.886A>T (p.Lys296Ter) c.640A>T (p.Lys214Ter) c.*530A>T (n.*530A>T) c.982A>T (p.Lys328Ter) c.907A>T (p.Lys303Ter) | |
| 2 | g.174750062T>C | CA349336534 | CHRNA1 | c.397A>G (p.Lys133Glu) c.961A>G (p.Lys321Glu) c.886A>G (p.Lys296Glu) c.640A>G (p.Lys214Glu) c.*530A>G (n.*530A>G) c.982A>G (p.Lys328Glu) c.907A>G (p.Lys303Glu) | |
| 2 | g.174750062T>G | CA349336536 | CHRNA1 | c.397A>C (p.Lys133Gln) c.961A>C (p.Lys321Gln) c.886A>C (p.Lys296Gln) c.640A>C (p.Lys214Gln) c.*530A>C (n.*530A>C) c.982A>C (p.Lys328Gln) c.907A>C (p.Lys303Gln) | |
| 2 | g.174750063T>A | CA430022355 | CHRNA1 | c.396A>T (p.Gly132=) c.960A>T (p.Gly320=) c.885A>T (p.Gly295=) c.639A>T (p.Gly213=) c.*529A>T (n.*529A>T) c.981A>T (p.Gly327=) c.906A>T (p.Gly302=) | |
| 2 | g.174750063T>C | CA430022357 | CHRNA1 | c.396A>G (p.Gly132=) c.960A>G (p.Gly320=) c.885A>G (p.Gly295=) c.639A>G (p.Gly213=) c.*529A>G (n.*529A>G) c.981A>G (p.Gly327=) c.906A>G (p.Gly302=) | |
| 2 | g.174750063T>G | CA430022356 | CHRNA1 | c.396A>C (p.Gly132=) c.960A>C (p.Gly320=) c.885A>C (p.Gly295=) c.639A>C (p.Gly213=) c.*529A>C (n.*529A>C) c.981A>C (p.Gly327=) c.906A>C (p.Gly302=) | |
| 2 | g.174750064C>A | CA349336538 | CHRNA1 | c.395G>T (p.Gly132Val) c.959G>T (p.Gly320Val) c.884G>T (p.Gly295Val) c.638G>T (p.Gly213Val) c.*528G>T (n.*528G>T) c.980G>T (p.Gly327Val) c.905G>T (p.Gly302Val) | |
| 2 | g.174750064C= | CA1308832552 | CHRNA1 | c.395G= (p.Gly132=) c.959G= (p.Gly320=) c.884G= (p.Gly295=) c.638G= (p.Gly213=) c.*528G= (n.*528G=) c.980G= (p.Gly327=) c.905G= (p.Gly302=) | |
| 2 | g.174750064C>G | CA349336541 | CHRNA1 | c.395G>C (p.Gly132Ala) c.959G>C (p.Gly320Ala) c.884G>C (p.Gly295Ala) c.638G>C (p.Gly213Ala) c.*528G>C (n.*528G>C) c.980G>C (p.Gly327Ala) c.905G>C (p.Gly302Ala) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174750064C>T | CA349336543 | CHRNA1 | c.395G>A (p.Gly132Glu) c.959G>A (p.Gly320Glu) c.884G>A (p.Gly295Glu) c.638G>A (p.Gly213Glu) c.*528G>A (n.*528G>A) c.980G>A (p.Gly327Glu) c.905G>A (p.Gly302Glu) | |
| 2 | g.174750065C>A | CA349336550 | CHRNA1 | c.394G>T (p.Gly132Ter) c.958G>T (p.Gly320Ter) c.883G>T (p.Gly295Ter) c.637G>T (p.Gly213Ter) c.*527G>T (n.*527G>T) c.979G>T (p.Gly327Ter) c.904G>T (p.Gly302Ter) | gnomAD v4 |
| 2 | g.174750065C= | CA1308832553 | CHRNA1 | c.394G= (p.Gly132=) c.958G= (p.Gly320=) c.883G= (p.Gly295=) c.637G= (p.Gly213=) c.*527G= (n.*527G=) c.979G= (p.Gly327=) c.904G= (p.Gly302=) | |
| 2 | g.174750065C>G | CA349336548 | CHRNA1 | c.394G>C (p.Gly132Arg) c.958G>C (p.Gly320Arg) c.883G>C (p.Gly295Arg) c.637G>C (p.Gly213Arg) c.*527G>C (n.*527G>C) c.979G>C (p.Gly327Arg) c.904G>C (p.Gly302Arg) | |
| 2 | g.174750065C>T | CA349336547 | CHRNA1 | c.394G>A (p.Gly132Arg) c.958G>A (p.Gly320Arg) c.883G>A (p.Gly295Arg) c.637G>A (p.Gly213Arg) c.*527G>A (n.*527G>A) c.979G>A (p.Gly327Arg) c.904G>A (p.Gly302Arg) | dbSNP gnomAD v4 |
| 2 | g.174750066A= | CA1308832554 | CHRNA1 | c.393T= (p.Ile131=) c.957T= (p.Ile319=) c.882T= (p.Ile294=) c.636T= (p.Ile212=) c.*526T= (n.*526T=) c.978T= (p.Ile326=) c.903T= (p.Ile301=) | |
| 2 | g.174750066A>C | CA349336553 | CHRNA1 | c.393T>G (p.Ile131Met) c.957T>G (p.Ile319Met) c.882T>G (p.Ile294Met) c.636T>G (p.Ile212Met) c.*526T>G (n.*526T>G) c.978T>G (p.Ile326Met) c.903T>G (p.Ile301Met) | dbSNP |
| 2 | g.174750066A>G | CA430022359 | CHRNA1 | c.393T>C (p.Ile131=) c.957T>C (p.Ile319=) c.882T>C (p.Ile294=) c.636T>C (p.Ile212=) c.*526T>C (n.*526T>C) c.978T>C (p.Ile326=) c.903T>C (p.Ile301=) | COSMIC |
| 2 | g.174750066A>T | CA430022362 | CHRNA1 | c.393T>A (p.Ile131=) c.957T>A (p.Ile319=) c.882T>A (p.Ile294=) c.636T>A (p.Ile212=) c.*526T>A (n.*526T>A) c.978T>A (p.Ile326=) c.903T>A (p.Ile301=) | |
| 2 | g.174750067A= | CA1308832555 | CHRNA1 | c.392T= (p.Ile131=) c.956T= (p.Ile319=) c.881T= (p.Ile294=) c.635T= (p.Ile212=) c.*525T= (n.*525T=) c.977T= (p.Ile326=) c.902T= (p.Ile301=) | |
| 2 | g.174750067A>C | CA349336557 | CHRNA1 | c.392T>G (p.Ile131Ser) c.956T>G (p.Ile319Ser) c.881T>G (p.Ile294Ser) c.635T>G (p.Ile212Ser) c.*525T>G (n.*525T>G) c.977T>G (p.Ile326Ser) c.902T>G (p.Ile301Ser) | |
| 2 | g.174750067A>G | CA1974430 | CHRNA1 | c.392T>C (p.Ile131Thr) c.956T>C (p.Ile319Thr) c.881T>C (p.Ile294Thr) c.635T>C (p.Ile212Thr) c.*525T>C (n.*525T>C) c.977T>C (p.Ile326Thr) c.902T>C (p.Ile301Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750067A>T | CA349336561 | CHRNA1 | c.392T>A (p.Ile131Asn) c.956T>A (p.Ile319Asn) c.881T>A (p.Ile294Asn) c.635T>A (p.Ile212Asn) c.*525T>A (n.*525T>A) c.977T>A (p.Ile326Asn) c.902T>A (p.Ile301Asn) | |
| 2 | g.174750068T>A | CA349336563 | CHRNA1 | c.391A>T (p.Ile131Phe) c.955A>T (p.Ile319Phe) c.880A>T (p.Ile294Phe) c.634A>T (p.Ile212Phe) c.*524A>T (n.*524A>T) c.976A>T (p.Ile326Phe) c.901A>T (p.Ile301Phe) | |
| 2 | g.174750068T>C | CA349336564 | CHRNA1 | c.391A>G (p.Ile131Val) c.955A>G (p.Ile319Val) c.880A>G (p.Ile294Val) c.634A>G (p.Ile212Val) c.*524A>G (n.*524A>G) c.976A>G (p.Ile326Val) c.901A>G (p.Ile301Val) | |
| 2 | g.174750068T>G | CA349336567 | CHRNA1 | c.391A>C (p.Ile131Leu) c.955A>C (p.Ile319Leu) c.880A>C (p.Ile294Leu) c.634A>C (p.Ile212Leu) c.*524A>C (n.*524A>C) c.976A>C (p.Ile326Leu) c.901A>C (p.Ile301Leu) | |
| 2 | g.174750069C>A | CA349336570 | CHRNA1 | c.390G>T (p.Leu130Phe) c.954G>T (p.Leu318Phe) c.879G>T (p.Leu293Phe) c.633G>T (p.Leu211Phe) c.*523G>T (n.*523G>T) c.975G>T (p.Leu325Phe) c.900G>T (p.Leu300Phe) | |
| 2 | g.174750069C>G | CA349336572 | CHRNA1 | c.390G>C (p.Leu130Phe) c.954G>C (p.Leu318Phe) c.879G>C (p.Leu293Phe) c.633G>C (p.Leu211Phe) c.*523G>C (n.*523G>C) c.975G>C (p.Leu325Phe) c.900G>C (p.Leu300Phe) | |
| 2 | g.174750069C>T | CA430022367 | CHRNA1 | c.390G>A (p.Leu130=) c.954G>A (p.Leu318=) c.879G>A (p.Leu293=) c.633G>A (p.Leu211=) c.*523G>A (n.*523G>A) c.975G>A (p.Leu325=) c.900G>A (p.Leu300=) | |
| 2 | g.174750070A>C | CA349336575 | CHRNA1 | c.389T>G (p.Leu130Trp) c.953T>G (p.Leu318Trp) c.878T>G (p.Leu293Trp) c.632T>G (p.Leu211Trp) c.*522T>G (n.*522T>G) c.974T>G (p.Leu325Trp) c.899T>G (p.Leu300Trp) | |
| 2 | g.174750070A>G | CA349336577 | CHRNA1 | c.389T>C (p.Leu130Ser) c.953T>C (p.Leu318Ser) c.878T>C (p.Leu293Ser) c.632T>C (p.Leu211Ser) c.*522T>C (n.*522T>C) c.974T>C (p.Leu325Ser) c.899T>C (p.Leu300Ser) | ClinVar dbSNP |
| 2 | g.174750070A>T | CA349336580 | CHRNA1 | c.389T>A (p.Leu130Ter) c.953T>A (p.Leu318Ter) c.878T>A (p.Leu293Ter) c.632T>A (p.Leu211Ter) c.*522T>A (n.*522T>A) c.974T>A (p.Leu325Ter) c.899T>A (p.Leu300Ter) | |
| 2 | g.174750071A>C | CA349336585 | CHRNA1 | c.388T>G (p.Leu130Val) c.952T>G (p.Leu318Val) c.877T>G (p.Leu293Val) c.631T>G (p.Leu211Val) c.*521T>G (n.*521T>G) c.973T>G (p.Leu325Val) c.898T>G (p.Leu300Val) | |
| 2 | g.174750071A>G | CA430022368 | CHRNA1 | c.388T>C (p.Leu130=) c.952T>C (p.Leu318=) c.877T>C (p.Leu293=) c.631T>C (p.Leu211=) c.*521T>C (n.*521T>C) c.973T>C (p.Leu325=) c.898T>C (p.Leu300=) | |
| 2 | g.174750071A>T | CA349336583 | CHRNA1 | c.388T>A (p.Leu130Met) c.952T>A (p.Leu318Met) c.877T>A (p.Leu293Met) c.631T>A (p.Leu211Met) c.*521T>A (n.*521T>A) c.973T>A (p.Leu325Met) c.898T>A (p.Leu300Met) | |
| 2 | g.174750072G>A | CA60848868 | CHRNA1 | c.387C>T (p.Pro129=) c.951C>T (p.Pro317=) c.876C>T (p.Pro292=) c.630C>T (p.Pro210=) c.*520C>T (n.*520C>T) c.972C>T (p.Pro324=) c.897C>T (p.Pro299=) | dbSNP gnomAD v4 COSMIC |
| 2 | g.174750072G>C | CA430022370 | CHRNA1 | c.387C>G (p.Pro129=) c.951C>G (p.Pro317=) c.876C>G (p.Pro292=) c.630C>G (p.Pro210=) c.*520C>G (n.*520C>G) c.972C>G (p.Pro324=) c.897C>G (p.Pro299=) | |
| 2 | g.174750072G= | CA1308832556 | CHRNA1 | c.387C= (p.Pro129=) c.951C= (p.Pro317=) c.876C= (p.Pro292=) c.630C= (p.Pro210=) c.*520C= (n.*520C=) c.972C= (p.Pro324=) c.897C= (p.Pro299=) | |
| 2 | g.174750072G>T | CA1974431 | CHRNA1 | c.387C>A (p.Pro129=) c.951C>A (p.Pro317=) c.876C>A (p.Pro292=) c.630C>A (p.Pro210=) c.*520C>A (n.*520C>A) c.972C>A (p.Pro324=) c.897C>A (p.Pro299=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750073G>A | CA349336587 | CHRNA1 | c.386C>T (p.Pro129Leu) c.950C>T (p.Pro317Leu) c.875C>T (p.Pro292Leu) c.629C>T (p.Pro210Leu) c.*519C>T (n.*519C>T) c.971C>T (p.Pro324Leu) c.896C>T (p.Pro299Leu) | |
| 2 | g.174750073G>C | CA349336590 | CHRNA1 | c.386C>G (p.Pro129Arg) c.950C>G (p.Pro317Arg) c.875C>G (p.Pro292Arg) c.629C>G (p.Pro210Arg) c.*519C>G (n.*519C>G) c.971C>G (p.Pro324Arg) c.896C>G (p.Pro299Arg) | |
| 2 | g.174750073G>T | CA349336593 | CHRNA1 | c.386C>A (p.Pro129His) c.950C>A (p.Pro317His) c.875C>A (p.Pro292His) c.629C>A (p.Pro210His) c.*519C>A (n.*519C>A) c.971C>A (p.Pro324His) c.896C>A (p.Pro299His) | COSMIC |
| 2 | g.174750074G>A | CA349336597 | CHRNA1 | c.385C>T (p.Pro129Ser) c.949C>T (p.Pro317Ser) c.874C>T (p.Pro292Ser) c.628C>T (p.Pro210Ser) c.*518C>T (n.*518C>T) c.970C>T (p.Pro324Ser) c.895C>T (p.Pro299Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750074G>C | CA349336599 | CHRNA1 | c.385C>G (p.Pro129Ala) c.949C>G (p.Pro317Ala) c.874C>G (p.Pro292Ala) c.628C>G (p.Pro210Ala) c.*518C>G (n.*518C>G) c.970C>G (p.Pro324Ala) c.895C>G (p.Pro299Ala) | |
| 2 | g.174750074G= | CA1308832557 | CHRNA1 | c.385C= (p.Pro129=) c.949C= (p.Pro317=) c.874C= (p.Pro292=) c.628C= (p.Pro210=) c.*518C= (n.*518C=) c.970C= (p.Pro324=) c.895C= (p.Pro299=) | |
| 2 | g.174750074G>T | CA349336600 | CHRNA1 | c.385C>A (p.Pro129Thr) c.949C>A (p.Pro317Thr) c.874C>A (p.Pro292Thr) c.628C>A (p.Pro210Thr) c.*518C>A (n.*518C>A) c.970C>A (p.Pro324Thr) c.895C>A (p.Pro299Thr) | |
| 2 | g.174750075C>A | CA430022372 | CHRNA1 | c.384G>T (p.Val128=) c.948G>T (p.Val316=) c.873G>T (p.Val291=) c.627G>T (p.Val209=) c.*517G>T (n.*517G>T) c.969G>T (p.Val323=) c.894G>T (p.Val298=) | |
| 2 | g.174750075C= | CA1308832558 | CHRNA1 | c.384G= (p.Val128=) c.948G= (p.Val316=) c.873G= (p.Val291=) c.627G= (p.Val209=) c.*517G= (n.*517G=) c.969G= (p.Val323=) c.894G= (p.Val298=) | |
| 2 | g.174750075C>G | CA430022373 | CHRNA1 | c.384G>C (p.Val128=) c.948G>C (p.Val316=) c.873G>C (p.Val291=) c.627G>C (p.Val209=) c.*517G>C (n.*517G>C) c.969G>C (p.Val323=) c.894G>C (p.Val298=) | |
| 2 | g.174750075C>T | CA430022374 | CHRNA1 | c.384G>A (p.Val128=) c.948G>A (p.Val316=) c.873G>A (p.Val291=) c.627G>A (p.Val209=) c.*517G>A (n.*517G>A) c.969G>A (p.Val323=) c.894G>A (p.Val298=) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174750076A= | CA1308832559 | CHRNA1 | c.383T= (p.Val128=) c.947T= (p.Val316=) c.872T= (p.Val291=) c.626T= (p.Val209=) c.*516T= (n.*516T=) c.968T= (p.Val323=) c.893T= (p.Val298=) | |
| 2 | g.174750076A>C | CA349336602 | CHRNA1 | c.383T>G (p.Val128Gly) c.947T>G (p.Val316Gly) c.872T>G (p.Val291Gly) c.626T>G (p.Val209Gly) c.*516T>G (n.*516T>G) c.968T>G (p.Val323Gly) c.893T>G (p.Val298Gly) | |
| 2 | g.174750076A>G | CA1974432 | CHRNA1 | c.383T>C (p.Val128Ala) c.947T>C (p.Val316Ala) c.872T>C (p.Val291Ala) c.626T>C (p.Val209Ala) c.*516T>C (n.*516T>C) c.968T>C (p.Val323Ala) c.893T>C (p.Val298Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.174750076A>T | CA349336605 | CHRNA1 | c.383T>A (p.Val128Glu) c.947T>A (p.Val316Glu) c.872T>A (p.Val291Glu) c.626T>A (p.Val209Glu) c.*516T>A (n.*516T>A) c.968T>A (p.Val323Glu) c.893T>A (p.Val298Glu) | |
| 2 | g.174750077C>A | CA349336608 | CHRNA1 | c.382G>T (p.Val128Leu) c.946G>T (p.Val316Leu) c.871G>T (p.Val291Leu) c.625G>T (p.Val209Leu) c.*515G>T (n.*515G>T) c.967G>T (p.Val323Leu) c.892G>T (p.Val298Leu) | |
| 2 | g.174750077C>G | CA349336610 | CHRNA1 | c.382G>C (p.Val128Leu) c.946G>C (p.Val316Leu) c.871G>C (p.Val291Leu) c.625G>C (p.Val209Leu) c.*515G>C (n.*515G>C) c.967G>C (p.Val323Leu) c.892G>C (p.Val298Leu) | |
| 2 | g.174750077C>T | CA349336613 | CHRNA1 | c.382G>A (p.Val128Met) c.946G>A (p.Val316Met) c.871G>A (p.Val291Met) c.625G>A (p.Val209Met) c.*515G>A (n.*515G>A) c.967G>A (p.Val323Met) c.892G>A (p.Val298Met) | |
| 2 | g.174750078A= | CA1308832560 | CHRNA1 | c.381T= (p.Ala127=) c.945T= (p.Ala315=) c.870T= (p.Ala290=) c.624T= (p.Ala208=) c.*514T= (n.*514T=) c.966T= (p.Ala322=) c.891T= (p.Ala297=) | |
| 2 | g.174750078A>C | CA430022376 | CHRNA1 | c.381T>G (p.Ala127=) c.945T>G (p.Ala315=) c.870T>G (p.Ala290=) c.624T>G (p.Ala208=) c.*514T>G (n.*514T>G) c.966T>G (p.Ala322=) c.891T>G (p.Ala297=) | |
| 2 | g.174750078A>G | CA60848900 | CHRNA1 | c.381T>C (p.Ala127=) c.945T>C (p.Ala315=) c.870T>C (p.Ala290=) c.624T>C (p.Ala208=) c.*514T>C (n.*514T>C) c.966T>C (p.Ala322=) c.891T>C (p.Ala297=) | dbSNP gnomAD v4 |
| 2 | g.174750078A>T | CA430022377 | CHRNA1 | c.381T>A (p.Ala127=) c.945T>A (p.Ala315=) c.870T>A (p.Ala290=) c.624T>A (p.Ala208=) c.*514T>A (n.*514T>A) c.966T>A (p.Ala322=) c.891T>A (p.Ala297=) | |
| 2 | g.174750079G>A | CA349336621 | CHRNA1 | c.380C>T (p.Ala127Val) c.944C>T (p.Ala315Val) c.869C>T (p.Ala290Val) c.623C>T (p.Ala208Val) c.*513C>T (n.*513C>T) c.965C>T (p.Ala322Val) c.890C>T (p.Ala297Val) | |
| 2 | g.174750079G>C | CA349336618 | CHRNA1 | c.380C>G (p.Ala127Gly) c.944C>G (p.Ala315Gly) c.869C>G (p.Ala290Gly) c.623C>G (p.Ala208Gly) c.*513C>G (n.*513C>G) c.965C>G (p.Ala322Gly) c.890C>G (p.Ala297Gly) | gnomAD v4 |
| 2 | g.174750079G>T | CA349336620 | CHRNA1 | c.380C>A (p.Ala127Asp) c.944C>A (p.Ala315Asp) c.869C>A (p.Ala290Asp) c.623C>A (p.Ala208Asp) c.*513C>A (n.*513C>A) c.965C>A (p.Ala322Asp) c.890C>A (p.Ala297Asp) | |
| 2 | g.174750080C>A | CA349336625 | CHRNA1 | c.379G>T (p.Ala127Ser) c.943G>T (p.Ala315Ser) c.868G>T (p.Ala290Ser) c.622G>T (p.Ala208Ser) c.*512G>T (n.*512G>T) c.964G>T (p.Ala322Ser) c.889G>T (p.Ala297Ser) | |
| 2 | g.174750080C>G | CA349336628 | CHRNA1 | c.379G>C (p.Ala127Pro) c.943G>C (p.Ala315Pro) c.868G>C (p.Ala290Pro) c.622G>C (p.Ala208Pro) c.*512G>C (n.*512G>C) c.964G>C (p.Ala322Pro) c.889G>C (p.Ala297Pro) | |
| 2 | g.174750080C>T | CA349336630 | CHRNA1 | c.379G>A (p.Ala127Thr) c.943G>A (p.Ala315Thr) c.868G>A (p.Ala290Thr) c.622G>A (p.Ala208Thr) c.*512G>A (n.*512G>A) c.964G>A (p.Ala322Thr) c.889G>A (p.Ala297Thr) | |
| 2 | g.174750081A>C | CA349336632 | CHRNA1 | c.378T>G (p.Ser126Arg) c.942T>G (p.Ser314Arg) c.867T>G (p.Ser289Arg) c.621T>G (p.Ser207Arg) c.*511T>G (n.*511T>G) c.963T>G (p.Ser321Arg) c.888T>G (p.Ser296Arg) | |
| 2 | g.174750081A>G | CA430022378 | CHRNA1 | c.378T>C (p.Ser126=) c.942T>C (p.Ser314=) c.867T>C (p.Ser289=) c.621T>C (p.Ser207=) c.*511T>C (n.*511T>C) c.963T>C (p.Ser321=) c.888T>C (p.Ser296=) | |
| 2 | g.174750081A>T | CA349336635 | CHRNA1 | c.378T>A (p.Ser126Arg) c.942T>A (p.Ser314Arg) c.867T>A (p.Ser289Arg) c.621T>A (p.Ser207Arg) c.*511T>A (n.*511T>A) c.963T>A (p.Ser321Arg) c.888T>A (p.Ser296Arg) | |
| 2 | g.174750082C>A | CA258185 | CHRNA1 | c.377G>T (p.Ser126Ile) c.941G>T (p.Ser314Ile) c.866G>T (p.Ser289Ile) c.620G>T (p.Ser207Ile) c.*510G>T (n.*510G>T) c.962G>T (p.Ser321Ile) c.887G>T (p.Ser296Ile) | ClinVar dbSNP |
| 2 | g.174750082C= | CA1308832561 | CHRNA1 | c.377G= (p.Ser126=) c.941G= (p.Ser314=) c.866G= (p.Ser289=) c.620G= (p.Ser207=) c.*510G= (n.*510G=) c.962G= (p.Ser321=) c.887G= (p.Ser296=) | |
| 2 | g.174750082C>G | CA349336640 | CHRNA1 | c.377G>C (p.Ser126Thr) c.941G>C (p.Ser314Thr) c.866G>C (p.Ser289Thr) c.620G>C (p.Ser207Thr) c.*510G>C (n.*510G>C) c.962G>C (p.Ser321Thr) c.887G>C (p.Ser296Thr) | |
| 2 | g.174750082C>T | CA349336642 | CHRNA1 | c.377G>A (p.Ser126Asn) c.941G>A (p.Ser314Asn) c.866G>A (p.Ser289Asn) c.620G>A (p.Ser207Asn) c.*510G>A (n.*510G>A) c.962G>A (p.Ser321Asn) c.887G>A (p.Ser296Asn) | |
| 2 | g.174750083T>A | CA349336646 | CHRNA1 | c.376A>T (p.Ser126Cys) c.940A>T (p.Ser314Cys) c.865A>T (p.Ser289Cys) c.619A>T (p.Ser207Cys) c.*509A>T (n.*509A>T) c.961A>T (p.Ser321Cys) c.886A>T (p.Ser296Cys) | |
| 2 | g.174750083T>C | CA349336648 | CHRNA1 | c.376A>G (p.Ser126Gly) c.940A>G (p.Ser314Gly) c.865A>G (p.Ser289Gly) c.619A>G (p.Ser207Gly) c.*509A>G (n.*509A>G) c.961A>G (p.Ser321Gly) c.886A>G (p.Ser296Gly) | |
| 2 | g.174750083T>G | CA349336651 | CHRNA1 | c.376A>C (p.Ser126Arg) c.940A>C (p.Ser314Arg) c.865A>C (p.Ser289Arg) c.619A>C (p.Ser207Arg) c.*509A>C (n.*509A>C) c.961A>C (p.Ser321Arg) c.886A>C (p.Ser296Arg) | |
| 2 | g.174750084G>A | CA60848934 | CHRNA1 | c.375C>T (p.Ser125=) c.939C>T (p.Ser313=) c.864C>T (p.Ser288=) c.618C>T (p.Ser206=) c.*508C>T (n.*508C>T) c.960C>T (p.Ser320=) c.885C>T (p.Ser295=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750084G>C | CA430022538 | CHRNA1 | c.375C>G (p.Ser125=) c.939C>G (p.Ser313=) c.864C>G (p.Ser288=) c.618C>G (p.Ser206=) c.*508C>G (n.*508C>G) c.960C>G (p.Ser320=) c.885C>G (p.Ser295=) | |
| 2 | g.174750084G= | CA1308832562 | CHRNA1 | c.375C= (p.Ser125=) c.939C= (p.Ser313=) c.864C= (p.Ser288=) c.618C= (p.Ser206=) c.*508C= (n.*508C=) c.960C= (p.Ser320=) c.885C= (p.Ser295=) | |
| 2 | g.174750084G>T | CA430022536 | CHRNA1 | c.375C>A (p.Ser125=) c.939C>A (p.Ser313=) c.864C>A (p.Ser288=) c.618C>A (p.Ser206=) c.*508C>A (n.*508C>A) c.960C>A (p.Ser320=) c.885C>A (p.Ser295=) | |
| 2 | g.174750085G>A | CA349336655 | CHRNA1 | c.374C>T (p.Ser125Phe) c.938C>T (p.Ser313Phe) c.863C>T (p.Ser288Phe) c.617C>T (p.Ser206Phe) c.*507C>T (n.*507C>T) c.959C>T (p.Ser320Phe) c.884C>T (p.Ser295Phe) | |
| 2 | g.174750085G>C | CA349336657 | CHRNA1 | c.374C>G (p.Ser125Cys) c.938C>G (p.Ser313Cys) c.863C>G (p.Ser288Cys) c.617C>G (p.Ser206Cys) c.*507C>G (n.*507C>G) c.959C>G (p.Ser320Cys) c.884C>G (p.Ser295Cys) | |
| 2 | g.174750085G>T | CA349336656 | CHRNA1 | c.374C>A (p.Ser125Tyr) c.938C>A (p.Ser313Tyr) c.863C>A (p.Ser288Tyr) c.617C>A (p.Ser206Tyr) c.*507C>A (n.*507C>A) c.959C>A (p.Ser320Tyr) c.884C>A (p.Ser295Tyr) | |
| 2 | g.174750086A>C | CA349336660 | CHRNA1 | c.373T>G (p.Ser125Ala) c.937T>G (p.Ser313Ala) c.862T>G (p.Ser288Ala) c.616T>G (p.Ser206Ala) c.*506T>G (n.*506T>G) c.958T>G (p.Ser320Ala) c.883T>G (p.Ser295Ala) | |
| 2 | g.174750086A>G | CA349336669 | CHRNA1 | c.373T>C (p.Ser125Pro) c.937T>C (p.Ser313Pro) c.862T>C (p.Ser288Pro) c.616T>C (p.Ser206Pro) c.*506T>C (n.*506T>C) c.958T>C (p.Ser320Pro) c.883T>C (p.Ser295Pro) | |
| 2 | g.174750086A>T | CA349336663 | CHRNA1 | c.373T>A (p.Ser125Thr) c.937T>A (p.Ser313Thr) c.862T>A (p.Ser288Thr) c.616T>A (p.Ser206Thr) c.*506T>A (n.*506T>A) c.958T>A (p.Ser320Thr) c.883T>A (p.Ser295Thr) | |
| 2 | g.174750087C>A | CA430022546 | CHRNA1 | c.372G>T (p.Thr124=) c.936G>T (p.Thr312=) c.861G>T (p.Thr287=) c.615G>T (p.Thr205=) c.*505G>T (n.*505G>T) c.957G>T (p.Thr319=) c.882G>T (p.Thr294=) | |
| 2 | g.174750087C= | CA1308832563 | CHRNA1 | c.372G= (p.Thr124=) c.936G= (p.Thr312=) c.861G= (p.Thr287=) c.615G= (p.Thr205=) c.*505G= (n.*505G=) c.957G= (p.Thr319=) c.882G= (p.Thr294=) | |
| 2 | g.174750087C>G | CA430022543 | CHRNA1 | c.372G>C (p.Thr124=) c.936G>C (p.Thr312=) c.861G>C (p.Thr287=) c.615G>C (p.Thr205=) c.*505G>C (n.*505G>C) c.957G>C (p.Thr319=) c.882G>C (p.Thr294=) | |
| 2 | g.174750087C>T | CA1974433 | CHRNA1 | c.372G>A (p.Thr124=) c.936G>A (p.Thr312=) c.861G>A (p.Thr287=) c.615G>A (p.Thr205=) c.*505G>A (n.*505G>A) c.957G>A (p.Thr319=) c.882G>A (p.Thr294=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750088G>A | CA1974434 | CHRNA1 | c.371C>T (p.Thr124Met) c.935C>T (p.Thr312Met) c.860C>T (p.Thr287Met) c.614C>T (p.Thr205Met) c.*504C>T (n.*504C>T) c.956C>T (p.Thr319Met) c.881C>T (p.Thr294Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750088G>C | CA60848995 | CHRNA1 | c.371C>G (p.Thr124Arg) c.935C>G (p.Thr312Arg) c.860C>G (p.Thr287Arg) c.614C>G (p.Thr205Arg) c.*504C>G (n.*504C>G) c.956C>G (p.Thr319Arg) c.881C>G (p.Thr294Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174750088G= | CA1308832564 | CHRNA1 | c.371C= (p.Thr124=) c.935C= (p.Thr312=) c.860C= (p.Thr287=) c.614C= (p.Thr205=) c.*504C= (n.*504C=) c.956C= (p.Thr319=) c.881C= (p.Thr294=) | |
| 2 | g.174750088G>T | CA349336680 | CHRNA1 | c.371C>A (p.Thr124Lys) c.935C>A (p.Thr312Lys) c.860C>A (p.Thr287Lys) c.614C>A (p.Thr205Lys) c.*504C>A (n.*504C>A) c.956C>A (p.Thr319Lys) c.881C>A (p.Thr294Lys) | |
| 2 | g.174750089T>A | CA349336683 | CHRNA1 | c.370A>T (p.Thr124Ser) c.934A>T (p.Thr312Ser) c.859A>T (p.Thr287Ser) c.613A>T (p.Thr205Ser) c.*503A>T (n.*503A>T) c.955A>T (p.Thr319Ser) c.880A>T (p.Thr294Ser) | |
| 2 | g.174750089T>C | CA349336686 | CHRNA1 | c.370A>G (p.Thr124Ala) c.934A>G (p.Thr312Ala) c.859A>G (p.Thr287Ala) c.613A>G (p.Thr205Ala) c.*503A>G (n.*503A>G) c.955A>G (p.Thr319Ala) c.880A>G (p.Thr294Ala) | |
| 2 | g.174750089T>G | CA349336687 | CHRNA1 | c.370A>C (p.Thr124Pro) c.934A>C (p.Thr312Pro) c.859A>C (p.Thr287Pro) c.613A>C (p.Thr205Pro) c.*503A>C (n.*503A>C) c.955A>C (p.Thr319Pro) c.880A>C (p.Thr294Pro) | |
| 2 | g.174750090G>A | CA430022548 | CHRNA1 | c.369C>T (p.Ser123=) c.933C>T (p.Ser311=) c.858C>T (p.Ser286=) c.612C>T (p.Ser204=) c.*502C>T (n.*502C>T) c.954C>T (p.Ser318=) c.879C>T (p.Ser293=) | |
| 2 | g.174750090G>C | CA430022552 | CHRNA1 | c.369C>G (p.Ser123=) c.933C>G (p.Ser311=) c.858C>G (p.Ser286=) c.612C>G (p.Ser204=) c.*502C>G (n.*502C>G) c.954C>G (p.Ser318=) c.879C>G (p.Ser293=) | |
| 2 | g.174750090G>T | CA430022550 | CHRNA1 | c.369C>A (p.Ser123=) c.933C>A (p.Ser311=) c.858C>A (p.Ser286=) c.612C>A (p.Ser204=) c.*502C>A (n.*502C>A) c.954C>A (p.Ser318=) c.879C>A (p.Ser293=) | |
| 2 | g.174750091G>A | CA349336689 | CHRNA1 | c.368C>T (p.Ser123Phe) c.932C>T (p.Ser311Phe) c.857C>T (p.Ser286Phe) c.611C>T (p.Ser204Phe) c.*501C>T (n.*501C>T) c.953C>T (p.Ser318Phe) c.878C>T (p.Ser293Phe) | |
| 2 | g.174750091G>C | CA349336692 | CHRNA1 | c.368C>G (p.Ser123Cys) c.932C>G (p.Ser311Cys) c.857C>G (p.Ser286Cys) c.611C>G (p.Ser204Cys) c.*501C>G (n.*501C>G) c.953C>G (p.Ser318Cys) c.878C>G (p.Ser293Cys) | |
| 2 | g.174750091G>T | CA349336694 | CHRNA1 | c.368C>A (p.Ser123Tyr) c.932C>A (p.Ser311Tyr) c.857C>A (p.Ser286Tyr) c.611C>A (p.Ser204Tyr) c.*501C>A (n.*501C>A) c.953C>A (p.Ser318Tyr) c.878C>A (p.Ser293Tyr) | |
| 2 | g.174750092A= | CA1308832565 | CHRNA1 | c.367T= (p.Ser123=) c.931T= (p.Ser311=) c.856T= (p.Ser286=) c.610T= (p.Ser204=) c.*500T= (n.*500T=) c.952T= (p.Ser318=) c.877T= (p.Ser293=) | |
| 2 | g.174750092A>C | CA60849004 | CHRNA1 | c.367T>G (p.Ser123Ala) c.931T>G (p.Ser311Ala) c.856T>G (p.Ser286Ala) c.610T>G (p.Ser204Ala) c.*500T>G (n.*500T>G) c.952T>G (p.Ser318Ala) c.877T>G (p.Ser293Ala) | dbSNP |
| 2 | g.174750092A>G | CA349336698 | CHRNA1 | c.367T>C (p.Ser123Pro) c.931T>C (p.Ser311Pro) c.856T>C (p.Ser286Pro) c.610T>C (p.Ser204Pro) c.*500T>C (n.*500T>C) c.952T>C (p.Ser318Pro) c.877T>C (p.Ser293Pro) | |
| 2 | g.174750092A>T | CA349336696 | CHRNA1 | c.367T>A (p.Ser123Thr) c.931T>A (p.Ser311Thr) c.856T>A (p.Ser286Thr) c.610T>A (p.Ser204Thr) c.*500T>A (n.*500T>A) c.952T>A (p.Ser318Thr) c.877T>A (p.Ser293Thr) | |
| 2 | g.174750093G>A | CA1974435 | CHRNA1 | c.366C>T (p.Pro122=) c.930C>T (p.Pro310=) c.855C>T (p.Pro285=) c.609C>T (p.Pro203=) c.*499C>T (n.*499C>T) c.951C>T (p.Pro317=) c.876C>T (p.Pro292=) | dbSNP ExAC gnomAD v2 |
| 2 | g.174750093G>C | CA430022553 | CHRNA1 | c.366C>G (p.Pro122=) c.930C>G (p.Pro310=) c.855C>G (p.Pro285=) c.609C>G (p.Pro203=) c.*499C>G (n.*499C>G) c.951C>G (p.Pro317=) c.876C>G (p.Pro292=) | |
| 2 | g.174750093G= | CA1308832566 | CHRNA1 | c.366C= (p.Pro122=) c.930C= (p.Pro310=) c.855C= (p.Pro285=) c.609C= (p.Pro203=) c.*499C= (n.*499C=) c.951C= (p.Pro317=) c.876C= (p.Pro292=) | |
| 2 | g.174750093G>T | CA430022555 | CHRNA1 | c.366C>A (p.Pro122=) c.930C>A (p.Pro310=) c.855C>A (p.Pro285=) c.609C>A (p.Pro203=) c.*499C>A (n.*499C>A) c.951C>A (p.Pro317=) c.876C>A (p.Pro292=) | |
| 2 | g.174750094G>A | CA349336705 | CHRNA1 | c.365C>T (p.Pro122Leu) c.929C>T (p.Pro310Leu) c.854C>T (p.Pro285Leu) c.608C>T (p.Pro203Leu) c.*498C>T (n.*498C>T) c.950C>T (p.Pro317Leu) c.875C>T (p.Pro292Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.174750094G>C | CA349336727 | CHRNA1 | c.365C>G (p.Pro122Arg) c.929C>G (p.Pro310Arg) c.854C>G (p.Pro285Arg) c.608C>G (p.Pro203Arg) c.*498C>G (n.*498C>G) c.950C>G (p.Pro317Arg) c.875C>G (p.Pro292Arg) | |
| 2 | g.174750094G= | CA1308832567 | CHRNA1 | c.365C= (p.Pro122=) c.929C= (p.Pro310=) c.854C= (p.Pro285=) c.608C= (p.Pro203=) c.*498C= (n.*498C=) c.950C= (p.Pro317=) c.875C= (p.Pro292=) | |
| 2 | g.174750094G>T | CA349336729 | CHRNA1 | c.365C>A (p.Pro122His) c.929C>A (p.Pro310His) c.854C>A (p.Pro285His) c.608C>A (p.Pro203His) c.*498C>A (n.*498C>A) c.950C>A (p.Pro317His) c.875C>A (p.Pro292His) | |
| 2 | g.174750095G>A | CA349336732 | CHRNA1 | c.364C>T (p.Pro122Ser) c.928C>T (p.Pro310Ser) c.853C>T (p.Pro285Ser) c.607C>T (p.Pro203Ser) c.*497C>T (n.*497C>T) c.949C>T (p.Pro317Ser) c.874C>T (p.Pro292Ser) | |
| 2 | g.174750095G>C | CA349336735 | CHRNA1 | c.364C>G (p.Pro122Ala) c.928C>G (p.Pro310Ala) c.853C>G (p.Pro285Ala) c.607C>G (p.Pro203Ala) c.*497C>G (n.*497C>G) c.949C>G (p.Pro317Ala) c.874C>G (p.Pro292Ala) | |
| 2 | g.174750095G>T | CA349336740 | CHRNA1 | c.364C>A (p.Pro122Thr) c.928C>A (p.Pro310Thr) c.853C>A (p.Pro285Thr) c.607C>A (p.Pro203Thr) c.*497C>A (n.*497C>A) c.949C>A (p.Pro317Thr) c.874C>A (p.Pro292Thr) | |
| 2 | g.174750096G>A | CA430022556 | CHRNA1 | c.363C>T (p.Ile121=) c.927C>T (p.Ile309=) c.852C>T (p.Ile284=) c.606C>T (p.Ile202=) c.*496C>T (n.*496C>T) c.948C>T (p.Ile316=) c.873C>T (p.Ile291=) | |
| 2 | g.174750096G>C | CA349336742 | CHRNA1 | c.363C>G (p.Ile121Met) c.927C>G (p.Ile309Met) c.852C>G (p.Ile284Met) c.606C>G (p.Ile202Met) c.*496C>G (n.*496C>G) c.948C>G (p.Ile316Met) c.873C>G (p.Ile291Met) | |
| 2 | g.174750096G>T | CA430022558 | CHRNA1 | c.363C>A (p.Ile121=) c.927C>A (p.Ile309=) c.852C>A (p.Ile284=) c.606C>A (p.Ile202=) c.*496C>A (n.*496C>A) c.948C>A (p.Ile316=) c.873C>A (p.Ile291=) | |
| 2 | g.174750097A>C | CA349336746 | CHRNA1 | c.362T>G (p.Ile121Ser) c.926T>G (p.Ile309Ser) c.851T>G (p.Ile284Ser) c.605T>G (p.Ile202Ser) c.*495T>G (n.*495T>G) c.947T>G (p.Ile316Ser) c.872T>G (p.Ile291Ser) | |
| 2 | g.174750097A>G | CA349336748 | CHRNA1 | c.362T>C (p.Ile121Thr) c.926T>C (p.Ile309Thr) c.851T>C (p.Ile284Thr) c.605T>C (p.Ile202Thr) c.*495T>C (n.*495T>C) c.947T>C (p.Ile316Thr) c.872T>C (p.Ile291Thr) | |
| 2 | g.174750097A>T | CA349336750 | CHRNA1 | c.362T>A (p.Ile121Asn) c.926T>A (p.Ile309Asn) c.851T>A (p.Ile284Asn) c.605T>A (p.Ile202Asn) c.*495T>A (n.*495T>A) c.947T>A (p.Ile316Asn) c.872T>A (p.Ile291Asn) | |
| 2 | g.174750098T>A | CA349336758 | CHRNA1 | c.361A>T (p.Ile121Phe) c.925A>T (p.Ile309Phe) c.850A>T (p.Ile284Phe) c.604A>T (p.Ile202Phe) c.*494A>T (n.*494A>T) c.946A>T (p.Ile316Phe) c.871A>T (p.Ile291Phe) | |
| 2 | g.174750098T>C | CA349336756 | CHRNA1 | c.361A>G (p.Ile121Val) c.925A>G (p.Ile309Val) c.850A>G (p.Ile284Val) c.604A>G (p.Ile202Val) c.*494A>G (n.*494A>G) c.946A>G (p.Ile316Val) c.871A>G (p.Ile291Val) | |
| 2 | g.174750098T>G | CA349336753 | CHRNA1 | c.361A>C (p.Ile121Leu) c.925A>C (p.Ile309Leu) c.850A>C (p.Ile284Leu) c.604A>C (p.Ile202Leu) c.*494A>C (n.*494A>C) c.946A>C (p.Ile316Leu) c.871A>C (p.Ile291Leu) | ClinVar |
| 2 | g.174750099C>A | CA430022559 | CHRNA1 | c.360G>T (p.Leu120=) c.924G>T (p.Leu308=) c.849G>T (p.Leu283=) c.603G>T (p.Leu201=) c.*493G>T (n.*493G>T) c.945G>T (p.Leu315=) c.870G>T (p.Leu290=) | COSMIC |
| 2 | g.174750099C= | CA1308832568 | CHRNA1 | c.360G= (p.Leu120=) c.924G= (p.Leu308=) c.849G= (p.Leu283=) c.603G= (p.Leu201=) c.*493G= (n.*493G=) c.945G= (p.Leu315=) c.870G= (p.Leu290=) | |
| 2 | g.174750099C>G | CA430022561 | CHRNA1 | c.360G>C (p.Leu120=) c.924G>C (p.Leu308=) c.849G>C (p.Leu283=) c.603G>C (p.Leu201=) c.*493G>C (n.*493G>C) c.945G>C (p.Leu315=) c.870G>C (p.Leu290=) | |
| 2 | g.174750099C>T | CA430022562 | CHRNA1 | c.360G>A (p.Leu120=) c.924G>A (p.Leu308=) c.849G>A (p.Leu283=) c.603G>A (p.Leu201=) c.*493G>A (n.*493G>A) c.945G>A (p.Leu315=) c.870G>A (p.Leu290=) | dbSNP |
| 2 | g.174750100A>C | CA349336762 | CHRNA1 | c.359T>G (p.Leu120Arg) c.923T>G (p.Leu308Arg) c.848T>G (p.Leu283Arg) c.602T>G (p.Leu201Arg) c.*492T>G (n.*492T>G) c.944T>G (p.Leu315Arg) c.869T>G (p.Leu290Arg) | |
| 2 | g.174750100A>G | CA349336764 | CHRNA1 | c.359T>C (p.Leu120Pro) c.923T>C (p.Leu308Pro) c.848T>C (p.Leu283Pro) c.602T>C (p.Leu201Pro) c.*492T>C (n.*492T>C) c.944T>C (p.Leu315Pro) c.869T>C (p.Leu290Pro) | gnomAD v4 |
| 2 | g.174750100A>T | CA349336767 | CHRNA1 | c.359T>A (p.Leu120Gln) c.923T>A (p.Leu308Gln) c.848T>A (p.Leu283Gln) c.602T>A (p.Leu201Gln) c.*492T>A (n.*492T>A) c.944T>A (p.Leu315Gln) c.869T>A (p.Leu290Gln) | |
| 2 | g.174750101G>A | CA430022563 | CHRNA1 | c.358C>T (p.Leu120=) c.922C>T (p.Leu308=) c.847C>T (p.Leu283=) c.601C>T (p.Leu201=) c.*491C>T (n.*491C>T) c.943C>T (p.Leu315=) c.868C>T (p.Leu290=) | |
| 2 | g.174750101G>C | CA349336768 | CHRNA1 | c.358C>G (p.Leu120Val) c.922C>G (p.Leu308Val) c.847C>G (p.Leu283Val) c.601C>G (p.Leu201Val) c.*491C>G (n.*491C>G) c.943C>G (p.Leu315Val) c.868C>G (p.Leu290Val) | |
| 2 | g.174750101G>T | CA349336771 | CHRNA1 | c.358C>A (p.Leu120Met) c.922C>A (p.Leu308Met) c.847C>A (p.Leu283Met) c.601C>A (p.Leu201Met) c.*491C>A (n.*491C>A) c.943C>A (p.Leu315Met) c.868C>A (p.Leu290Met) | |
| 2 | g.174750102C>A | CA349336782 | CHRNA1 | c.357G>T (p.Glu119Asp) c.921G>T (p.Glu307Asp) c.846G>T (p.Glu282Asp) c.600G>T (p.Glu200Asp) c.*490G>T (n.*490G>T) c.942G>T (p.Glu314Asp) c.867G>T (p.Glu289Asp) | gnomAD v4 |
| 2 | g.174750102C>G | CA349336785 | CHRNA1 | c.357G>C (p.Glu119Asp) c.921G>C (p.Glu307Asp) c.846G>C (p.Glu282Asp) c.600G>C (p.Glu200Asp) c.*490G>C (n.*490G>C) c.942G>C (p.Glu314Asp) c.867G>C (p.Glu289Asp) | |
| 2 | g.174750102C>T | CA430022566 | CHRNA1 | c.357G>A (p.Glu119=) c.921G>A (p.Glu307=) c.846G>A (p.Glu282=) c.600G>A (p.Glu200=) c.*490G>A (n.*490G>A) c.942G>A (p.Glu314=) c.867G>A (p.Glu289=) | |
| 2 | g.174750103T>A | CA349336787 | CHRNA1 | c.356A>T (p.Glu119Val) c.920A>T (p.Glu307Val) c.845A>T (p.Glu282Val) c.599A>T (p.Glu200Val) c.*489A>T (n.*489A>T) c.941A>T (p.Glu314Val) c.866A>T (p.Glu289Val) | |
| 2 | g.174750103T>C | CA349336789 | CHRNA1 | c.356A>G (p.Glu119Gly) c.920A>G (p.Glu307Gly) c.845A>G (p.Glu282Gly) c.599A>G (p.Glu200Gly) c.*489A>G (n.*489A>G) c.941A>G (p.Glu314Gly) c.866A>G (p.Glu289Gly) | |
| 2 | g.174750103T>G | CA349336790 | CHRNA1 | c.356A>C (p.Glu119Ala) c.920A>C (p.Glu307Ala) c.845A>C (p.Glu282Ala) c.599A>C (p.Glu200Ala) c.*489A>C (n.*489A>C) c.941A>C (p.Glu314Ala) c.866A>C (p.Glu289Ala) | |
| 2 | g.174750104C>A | CA349336791 | CHRNA1 | c.355G>T (p.Glu119Ter) c.919G>T (p.Glu307Ter) c.844G>T (p.Glu282Ter) c.598G>T (p.Glu200Ter) c.*488G>T (n.*488G>T) c.940G>T (p.Glu314Ter) c.865G>T (p.Glu289Ter) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174750104C= | CA1308832569 | CHRNA1 | c.355G= (p.Glu119=) c.919G= (p.Glu307=) c.844G= (p.Glu282=) c.598G= (p.Glu200=) c.*488G= (n.*488G=) c.940G= (p.Glu314=) c.865G= (p.Glu289=) | |
| 2 | g.174750104C>G | CA349336792 | CHRNA1 | c.355G>C (p.Glu119Gln) c.919G>C (p.Glu307Gln) c.844G>C (p.Glu282Gln) c.598G>C (p.Glu200Gln) c.*488G>C (n.*488G>C) c.940G>C (p.Glu314Gln) c.865G>C (p.Glu289Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750104C>T | CA349336793 | CHRNA1 | c.355G>A (p.Glu119Lys) c.919G>A (p.Glu307Lys) c.844G>A (p.Glu282Lys) c.598G>A (p.Glu200Lys) c.*488G>A (n.*488G>A) c.940G>A (p.Glu314Lys) c.865G>A (p.Glu289Lys) | |
| 2 | g.174750105C>A | CA430022567 | CHRNA1 | c.354G>T (p.Val118=) c.918G>T (p.Val306=) c.843G>T (p.Val281=) c.597G>T (p.Val199=) c.*487G>T (n.*487G>T) c.939G>T (p.Val313=) c.864G>T (p.Val288=) | |
| 2 | g.174750105C>G | CA430022570 | CHRNA1 | c.354G>C (p.Val118=) c.918G>C (p.Val306=) c.843G>C (p.Val281=) c.597G>C (p.Val199=) c.*487G>C (n.*487G>C) c.939G>C (p.Val313=) c.864G>C (p.Val288=) | |
| 2 | g.174750105C>T | CA430022568 | CHRNA1 | c.354G>A (p.Val118=) c.918G>A (p.Val306=) c.843G>A (p.Val281=) c.597G>A (p.Val199=) c.*487G>A (n.*487G>A) c.939G>A (p.Val313=) c.864G>A (p.Val288=) | |
| 2 | g.174750106A>C | CA349336794 | CHRNA1 | c.353T>G (p.Val118Gly) c.917T>G (p.Val306Gly) c.842T>G (p.Val281Gly) c.596T>G (p.Val199Gly) c.*486T>G (n.*486T>G) c.938T>G (p.Val313Gly) c.863T>G (p.Val288Gly) | |
| 2 | g.174750106A>G | CA349336798 | CHRNA1 | c.353T>C (p.Val118Ala) c.917T>C (p.Val306Ala) c.842T>C (p.Val281Ala) c.596T>C (p.Val199Ala) c.*486T>C (n.*486T>C) c.938T>C (p.Val313Ala) c.863T>C (p.Val288Ala) | |
| 2 | g.174750106A>T | CA349336796 | CHRNA1 | c.353T>A (p.Val118Glu) c.917T>A (p.Val306Glu) c.842T>A (p.Val281Glu) c.596T>A (p.Val199Glu) c.*486T>A (n.*486T>A) c.938T>A (p.Val313Glu) c.863T>A (p.Val288Glu) | |
| 2 | g.174750107C>A | CA349336803 | CHRNA1 | c.352G>T (p.Val118Leu) c.916G>T (p.Val306Leu) c.841G>T (p.Val281Leu) c.595G>T (p.Val199Leu) c.*485G>T (n.*485G>T) c.937G>T (p.Val313Leu) c.862G>T (p.Val288Leu) | gnomAD v4 |
| 2 | g.174750107C= | CA1308832570 | CHRNA1 | c.352G= (p.Val118=) c.916G= (p.Val306=) c.841G= (p.Val281=) c.595G= (p.Val199=) c.*485G= (n.*485G=) c.937G= (p.Val313=) c.862G= (p.Val288=) | |
| 2 | g.174750107C>G | CA349336805 | CHRNA1 | c.352G>C (p.Val118Leu) c.916G>C (p.Val306Leu) c.841G>C (p.Val281Leu) c.595G>C (p.Val199Leu) c.*485G>C (n.*485G>C) c.937G>C (p.Val313Leu) c.862G>C (p.Val288Leu) | gnomAD v4 COSMIC |
| 2 | g.174750107C>T | CA1974436 | CHRNA1 | c.352G>A (p.Val118Met) c.916G>A (p.Val306Met) c.841G>A (p.Val281Met) c.595G>A (p.Val199Met) c.*485G>A (n.*485G>A) c.937G>A (p.Val313Met) c.862G>A (p.Val288Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750108G>A | CA1974437 | CHRNA1 | c.351C>T (p.Ile117=) c.915C>T (p.Ile305=) c.840C>T (p.Ile280=) c.594C>T (p.Ile198=) c.*484C>T (n.*484C>T) c.936C>T (p.Ile312=) c.861C>T (p.Ile287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750108G>C | CA349336811 | CHRNA1 | c.351C>G (p.Ile117Met) c.915C>G (p.Ile305Met) c.840C>G (p.Ile280Met) c.594C>G (p.Ile198Met) c.*484C>G (n.*484C>G) c.936C>G (p.Ile312Met) c.861C>G (p.Ile287Met) | gnomAD v4 |
| 2 | g.174750108G= | CA1308832571 | CHRNA1 | c.351C= (p.Ile117=) c.915C= (p.Ile305=) c.840C= (p.Ile280=) c.594C= (p.Ile198=) c.*484C= (n.*484C=) c.936C= (p.Ile312=) c.861C= (p.Ile287=) | |
| 2 | g.174750108G>T | CA430022574 | CHRNA1 | c.351C>A (p.Ile117=) c.915C>A (p.Ile305=) c.840C>A (p.Ile280=) c.594C>A (p.Ile198=) c.*484C>A (n.*484C>A) c.936C>A (p.Ile312=) c.861C>A (p.Ile287=) | |
| 2 | g.174750109A>C | CA349336812 | CHRNA1 | c.350T>G (p.Ile117Ser) c.914T>G (p.Ile305Ser) c.839T>G (p.Ile280Ser) c.593T>G (p.Ile198Ser) c.*483T>G (n.*483T>G) c.935T>G (p.Ile312Ser) c.860T>G (p.Ile287Ser) | |
| 2 | g.174750109A>G | CA349336813 | CHRNA1 | c.350T>C (p.Ile117Thr) c.914T>C (p.Ile305Thr) c.839T>C (p.Ile280Thr) c.593T>C (p.Ile198Thr) c.*483T>C (n.*483T>C) c.935T>C (p.Ile312Thr) c.860T>C (p.Ile287Thr) | |
| 2 | g.174750109A>T | CA349336814 | CHRNA1 | c.350T>A (p.Ile117Asn) c.914T>A (p.Ile305Asn) c.839T>A (p.Ile280Asn) c.593T>A (p.Ile198Asn) c.*483T>A (n.*483T>A) c.935T>A (p.Ile312Asn) c.860T>A (p.Ile287Asn) | |
| 2 | g.174750110T>A | CA349336816 | CHRNA1 | c.349A>T (p.Ile117Phe) c.913A>T (p.Ile305Phe) c.838A>T (p.Ile280Phe) c.592A>T (p.Ile198Phe) c.*482A>T (n.*482A>T) c.934A>T (p.Ile312Phe) c.859A>T (p.Ile287Phe) | |
| 2 | g.174750110T>C | CA349336818 | CHRNA1 | c.349A>G (p.Ile117Val) c.913A>G (p.Ile305Val) c.838A>G (p.Ile280Val) c.592A>G (p.Ile198Val) c.*482A>G (n.*482A>G) c.934A>G (p.Ile312Val) c.859A>G (p.Ile287Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750110T>G | CA349336819 | CHRNA1 | c.349A>C (p.Ile117Leu) c.913A>C (p.Ile305Leu) c.838A>C (p.Ile280Leu) c.592A>C (p.Ile198Leu) c.*482A>C (n.*482A>C) c.934A>C (p.Ile312Leu) c.859A>C (p.Ile287Leu) | |
| 2 | g.174750110T= | CA1308832572 | CHRNA1 | c.349A= (p.Ile117=) c.913A= (p.Ile305=) c.838A= (p.Ile280=) c.592A= (p.Ile198=) c.*482A= (n.*482A=) c.934A= (p.Ile312=) c.859A= (p.Ile287=) | |
| 2 | g.174750111G>A | CA430022576 | CHRNA1 | c.348C>T (p.Val116=) c.912C>T (p.Val304=) c.837C>T (p.Val279=) c.591C>T (p.Val197=) c.*481C>T (n.*481C>T) c.933C>T (p.Val311=) c.858C>T (p.Val286=) | |
| 2 | g.174750111G>C | CA430022577 | CHRNA1 | c.348C>G (p.Val116=) c.912C>G (p.Val304=) c.837C>G (p.Val279=) c.591C>G (p.Val197=) c.*481C>G (n.*481C>G) c.933C>G (p.Val311=) c.858C>G (p.Val286=) | |
| 2 | g.174750111G>T | CA430022578 | CHRNA1 | c.348C>A (p.Val116=) c.912C>A (p.Val304=) c.837C>A (p.Val279=) c.591C>A (p.Val197=) c.*481C>A (n.*481C>A) c.933C>A (p.Val311=) c.858C>A (p.Val286=) | gnomAD v4 |
| 2 | g.174750112A>C | CA349336826 | CHRNA1 | c.347T>G (p.Val116Gly) c.911T>G (p.Val304Gly) c.836T>G (p.Val279Gly) c.590T>G (p.Val197Gly) c.*480T>G (n.*480T>G) c.932T>G (p.Val311Gly) c.857T>G (p.Val286Gly) | |
| 2 | g.174750112A>G | CA349336828 | CHRNA1 | c.347T>C (p.Val116Ala) c.911T>C (p.Val304Ala) c.836T>C (p.Val279Ala) c.590T>C (p.Val197Ala) c.*480T>C (n.*480T>C) c.932T>C (p.Val311Ala) c.857T>C (p.Val286Ala) | |
| 2 | g.174750112A>T | CA349336822 | CHRNA1 | c.347T>A (p.Val116Asp) c.911T>A (p.Val304Asp) c.836T>A (p.Val279Asp) c.590T>A (p.Val197Asp) c.*480T>A (n.*480T>A) c.932T>A (p.Val311Asp) c.857T>A (p.Val286Asp) | |
| 2 | g.174750113C>A | CA349336829 | CHRNA1 | c.346G>T (p.Val116Phe) c.910G>T (p.Val304Phe) c.835G>T (p.Val279Phe) c.589G>T (p.Val197Phe) c.*479G>T (n.*479G>T) c.931G>T (p.Val311Phe) c.856G>T (p.Val286Phe) | |
| 2 | g.174750113C>G | CA349336830 | CHRNA1 | c.346G>C (p.Val116Leu) c.910G>C (p.Val304Leu) c.835G>C (p.Val279Leu) c.589G>C (p.Val197Leu) c.*479G>C (n.*479G>C) c.931G>C (p.Val311Leu) c.856G>C (p.Val286Leu) | |
| 2 | g.174750113C>T | CA349336831 | CHRNA1 | c.346G>A (p.Val116Ile) c.910G>A (p.Val304Ile) c.835G>A (p.Val279Ile) c.589G>A (p.Val197Ile) c.*479G>A (n.*479G>A) c.931G>A (p.Val311Ile) c.856G>A (p.Val286Ile) | |
| 2 | g.174750114C>A | CA430022580 | CHRNA1 | c.345G>T (p.Leu115=) c.909G>T (p.Leu303=) c.834G>T (p.Leu278=) c.588G>T (p.Leu196=) c.*478G>T (n.*478G>T) c.930G>T (p.Leu310=) c.855G>T (p.Leu285=) | |
| 2 | g.174750114C>G | CA430022581 | CHRNA1 | c.345G>C (p.Leu115=) c.909G>C (p.Leu303=) c.834G>C (p.Leu278=) c.588G>C (p.Leu196=) c.*478G>C (n.*478G>C) c.930G>C (p.Leu310=) c.855G>C (p.Leu285=) | |
| 2 | g.174750114C>T | CA430022582 | CHRNA1 | c.345G>A (p.Leu115=) c.909G>A (p.Leu303=) c.834G>A (p.Leu278=) c.588G>A (p.Leu196=) c.*478G>A (n.*478G>A) c.930G>A (p.Leu310=) c.855G>A (p.Leu285=) | |
| 2 | g.174750115del | CA2662020248 | CHRNA1 | c.344del (p.Leu115ArgfsTer6) c.908del (p.Leu303ArgfsTer6) c.833del (p.Leu278ArgfsTer6) c.587del (p.Leu196ArgfsTer6) c.*477del (n.*477del) c.929del (p.Leu310ArgfsTer6) c.854del (p.Leu285ArgfsTer6) | gnomAD v4 |
| 2 | g.174750115A>C | CA349336832 | CHRNA1 | c.344T>G (p.Leu115Arg) c.908T>G (p.Leu303Arg) c.833T>G (p.Leu278Arg) c.587T>G (p.Leu196Arg) c.*477T>G (n.*477T>G) c.929T>G (p.Leu310Arg) c.854T>G (p.Leu285Arg) | |
| 2 | g.174750115A>G | CA349336833 | CHRNA1 | c.344T>C (p.Leu115Pro) c.908T>C (p.Leu303Pro) c.833T>C (p.Leu278Pro) c.587T>C (p.Leu196Pro) c.*477T>C (n.*477T>C) c.929T>C (p.Leu310Pro) c.854T>C (p.Leu285Pro) | |
| 2 | g.174750115A>T | CA349336834 | CHRNA1 | c.344T>A (p.Leu115Gln) c.908T>A (p.Leu303Gln) c.833T>A (p.Leu278Gln) c.587T>A (p.Leu196Gln) c.*477T>A (n.*477T>A) c.929T>A (p.Leu310Gln) c.854T>A (p.Leu285Gln) | |
| 2 | g.174750116G>A | CA430022583 | CHRNA1 | c.343C>T (p.Leu115=) c.907C>T (p.Leu303=) c.832C>T (p.Leu278=) c.586C>T (p.Leu196=) c.*476C>T (n.*476C>T) c.928C>T (p.Leu310=) c.853C>T (p.Leu285=) | |
| 2 | g.174750116G>C | CA349336837 | CHRNA1 | c.343C>G (p.Leu115Val) c.907C>G (p.Leu303Val) c.832C>G (p.Leu278Val) c.586C>G (p.Leu196Val) c.*476C>G (n.*476C>G) c.928C>G (p.Leu310Val) c.853C>G (p.Leu285Val) | |
| 2 | g.174750116G>T | CA349336843 | CHRNA1 | c.343C>A (p.Leu115Met) c.907C>A (p.Leu303Met) c.832C>A (p.Leu278Met) c.586C>A (p.Leu196Met) c.*476C>A (n.*476C>A) c.928C>A (p.Leu310Met) c.853C>A (p.Leu285Met) | |
| 2 | g.174750117A>C | CA430022584 | CHRNA1 | c.342T>G (p.Leu114=) c.906T>G (p.Leu302=) c.831T>G (p.Leu277=) c.585T>G (p.Leu195=) c.*475T>G (n.*475T>G) c.927T>G (p.Leu309=) c.852T>G (p.Leu284=) | |
| 2 | g.174750117A>G | CA430022585 | CHRNA1 | c.342T>C (p.Leu114=) c.906T>C (p.Leu302=) c.831T>C (p.Leu277=) c.585T>C (p.Leu195=) c.*475T>C (n.*475T>C) c.927T>C (p.Leu309=) c.852T>C (p.Leu284=) | |
| 2 | g.174750117A>T | CA430022586 | CHRNA1 | c.342T>A (p.Leu114=) c.906T>A (p.Leu302=) c.831T>A (p.Leu277=) c.585T>A (p.Leu195=) c.*475T>A (n.*475T>A) c.927T>A (p.Leu309=) c.852T>A (p.Leu284=) | |
| 2 | g.174750118A>C | CA349336845 | CHRNA1 | c.341T>G (p.Leu114Arg) c.905T>G (p.Leu302Arg) c.830T>G (p.Leu277Arg) c.584T>G (p.Leu195Arg) c.*474T>G (n.*474T>G) c.926T>G (p.Leu309Arg) c.851T>G (p.Leu284Arg) | |
| 2 | g.174750118A>G | CA349336846 | CHRNA1 | c.341T>C (p.Leu114Pro) c.905T>C (p.Leu302Pro) c.830T>C (p.Leu277Pro) c.584T>C (p.Leu195Pro) c.*474T>C (n.*474T>C) c.926T>C (p.Leu309Pro) c.851T>C (p.Leu284Pro) | |
| 2 | g.174750118A>T | CA349336847 | CHRNA1 | c.341T>A (p.Leu114His) c.905T>A (p.Leu302His) c.830T>A (p.Leu277His) c.584T>A (p.Leu195His) c.*474T>A (n.*474T>A) c.926T>A (p.Leu309His) c.851T>A (p.Leu284His) | |
| 2 | g.174750119G>A | CA349336848 | CHRNA1 | c.340C>T (p.Leu114Phe) c.904C>T (p.Leu302Phe) c.829C>T (p.Leu277Phe) c.583C>T (p.Leu195Phe) c.*473C>T (n.*473C>T) c.925C>T (p.Leu309Phe) c.850C>T (p.Leu284Phe) | |
| 2 | g.174750119G>C | CA349336849 | CHRNA1 | c.340C>G (p.Leu114Val) c.904C>G (p.Leu302Val) c.829C>G (p.Leu277Val) c.583C>G (p.Leu195Val) c.*473C>G (n.*473C>G) c.925C>G (p.Leu309Val) c.850C>G (p.Leu284Val) | |
| 2 | g.174750119G>T | CA349336850 | CHRNA1 | c.340C>A (p.Leu114Ile) c.904C>A (p.Leu302Ile) c.829C>A (p.Leu277Ile) c.583C>A (p.Leu195Ile) c.*473C>A (n.*473C>A) c.925C>A (p.Leu309Ile) c.850C>A (p.Leu284Ile) | |
| 2 | g.174750120G>A | CA430022588 | CHRNA1 | c.339C>T (p.Phe113=) c.903C>T (p.Phe301=) c.828C>T (p.Phe276=) c.582C>T (p.Phe194=) c.*472C>T (n.*472C>T) c.924C>T (p.Phe308=) c.849C>T (p.Phe283=) | ClinVar dbSNP COSMIC |
| 2 | g.174750120G>C | CA349336853 | CHRNA1 | c.339C>G (p.Phe113Leu) c.903C>G (p.Phe301Leu) c.828C>G (p.Phe276Leu) c.582C>G (p.Phe194Leu) c.*472C>G (n.*472C>G) c.924C>G (p.Phe308Leu) c.849C>G (p.Phe283Leu) | |
| 2 | g.174750120G= | CA1308832573 | CHRNA1 | c.339C= (p.Phe113=) c.903C= (p.Phe301=) c.828C= (p.Phe276=) c.582C= (p.Phe194=) c.*472C= (n.*472C=) c.924C= (p.Phe308=) c.849C= (p.Phe283=) | |
| 2 | g.174750120G>T | CA349336852 | CHRNA1 | c.339C>A (p.Phe113Leu) c.903C>A (p.Phe301Leu) c.828C>A (p.Phe276Leu) c.582C>A (p.Phe194Leu) c.*472C>A (n.*472C>A) c.924C>A (p.Phe308Leu) c.849C>A (p.Phe283Leu) | |
| 2 | g.174750121A>C | CA349336856 | CHRNA1 | c.338T>G (p.Phe113Cys) c.902T>G (p.Phe301Cys) c.827T>G (p.Phe276Cys) c.581T>G (p.Phe194Cys) c.*471T>G (n.*471T>G) c.923T>G (p.Phe308Cys) c.848T>G (p.Phe283Cys) | |
| 2 | g.174750121A>G | CA349336861 | CHRNA1 | c.338T>C (p.Phe113Ser) c.902T>C (p.Phe301Ser) c.827T>C (p.Phe276Ser) c.581T>C (p.Phe194Ser) c.*471T>C (n.*471T>C) c.923T>C (p.Phe308Ser) c.848T>C (p.Phe283Ser) | ClinVar |
| 2 | g.174750121A>T | CA349336863 | CHRNA1 | c.338T>A (p.Phe113Tyr) c.902T>A (p.Phe301Tyr) c.827T>A (p.Phe276Tyr) c.581T>A (p.Phe194Tyr) c.*471T>A (n.*471T>A) c.923T>A (p.Phe308Tyr) c.848T>A (p.Phe283Tyr) | |
| 2 | g.174750122A= | CA1308832574 | CHRNA1 | c.337T= (p.Phe113=) c.901T= (p.Phe301=) c.826T= (p.Phe276=) c.580T= (p.Phe194=) c.*470T= (n.*470T=) c.922T= (p.Phe308=) c.847T= (p.Phe283=) | |
| 2 | g.174750122A>C | CA349336865 | CHRNA1 | c.337T>G (p.Phe113Val) c.901T>G (p.Phe301Val) c.826T>G (p.Phe276Val) c.580T>G (p.Phe194Val) c.*470T>G (n.*470T>G) c.922T>G (p.Phe308Val) c.847T>G (p.Phe283Val) | |
| 2 | g.174750122A>G | CA128080 | CHRNA1 | c.337T>C (p.Phe113Leu) c.901T>C (p.Phe301Leu) c.826T>C (p.Phe276Leu) c.580T>C (p.Phe194Leu) c.*470T>C (n.*470T>C) c.922T>C (p.Phe308Leu) c.847T>C (p.Phe283Leu) | ClinVar dbSNP gnomAD v4 |
| 2 | g.174750122A>T | CA349336867 | CHRNA1 | c.337T>A (p.Phe113Ile) c.901T>A (p.Phe301Ile) c.826T>A (p.Phe276Ile) c.580T>A (p.Phe194Ile) c.*470T>A (n.*470T>A) c.922T>A (p.Phe308Ile) c.847T>A (p.Phe283Ile) | |
| 2 | g.174750123C>A | CA430022591 | CHRNA1 | c.336G>T (p.Val112=) c.900G>T (p.Val300=) c.825G>T (p.Val275=) c.579G>T (p.Val193=) c.*469G>T (n.*469G>T) c.921G>T (p.Val307=) c.846G>T (p.Val282=) | |
| 2 | g.174750123C= | CA1308832575 | CHRNA1 | c.336G= (p.Val112=) c.900G= (p.Val300=) c.825G= (p.Val275=) c.579G= (p.Val193=) c.*469G= (n.*469G=) c.921G= (p.Val307=) c.846G= (p.Val282=) | |
| 2 | g.174750123C>G | CA430022593 | CHRNA1 | c.336G>C (p.Val112=) c.900G>C (p.Val300=) c.825G>C (p.Val275=) c.579G>C (p.Val193=) c.*469G>C (n.*469G>C) c.921G>C (p.Val307=) c.846G>C (p.Val282=) | |
| 2 | g.174750123C>T | CA430022595 | CHRNA1 | c.336G>A (p.Val112=) c.900G>A (p.Val300=) c.825G>A (p.Val275=) c.579G>A (p.Val193=) c.*469G>A (n.*469G>A) c.921G>A (p.Val307=) c.846G>A (p.Val282=) | dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.174750124A>C | CA349336876 | CHRNA1 | c.335T>G (p.Val112Gly) c.899T>G (p.Val300Gly) c.824T>G (p.Val275Gly) c.578T>G (p.Val193Gly) c.*468T>G (n.*468T>G) c.920T>G (p.Val307Gly) c.845T>G (p.Val282Gly) | |
| 2 | g.174750124A>G | CA349336873 | CHRNA1 | c.335T>C (p.Val112Ala) c.899T>C (p.Val300Ala) c.824T>C (p.Val275Ala) c.578T>C (p.Val193Ala) c.*468T>C (n.*468T>C) c.920T>C (p.Val307Ala) c.845T>C (p.Val282Ala) | ClinVar dbSNP |
| 2 | g.174750124A>T | CA349336870 | CHRNA1 | c.335T>A (p.Val112Glu) c.899T>A (p.Val300Glu) c.824T>A (p.Val275Glu) c.578T>A (p.Val193Glu) c.*468T>A (n.*468T>A) c.920T>A (p.Val307Glu) c.845T>A (p.Val282Glu) | |
| 2 | g.174750125C>A | CA349336882 | CHRNA1 | c.334G>T (p.Val112Leu) c.898G>T (p.Val300Leu) c.823G>T (p.Val275Leu) c.577G>T (p.Val193Leu) c.*467G>T (n.*467G>T) c.919G>T (p.Val307Leu) c.844G>T (p.Val282Leu) | |
| 2 | g.174750125C>G | CA349336885 | CHRNA1 | c.334G>C (p.Val112Leu) c.898G>C (p.Val300Leu) c.823G>C (p.Val275Leu) c.577G>C (p.Val193Leu) c.*467G>C (n.*467G>C) c.919G>C (p.Val307Leu) c.844G>C (p.Val282Leu) | |
| 2 | g.174750125C>T | CA349336887 | CHRNA1 | c.334G>A (p.Val112Met) c.898G>A (p.Val300Met) c.823G>A (p.Val275Met) c.577G>A (p.Val193Met) c.*467G>A (n.*467G>A) c.919G>A (p.Val307Met) c.844G>A (p.Val282Met) | |
| 2 | g.174750127_174750130del | CA2662020249 | CHRNA1 | c.331_334del (p.Thr111CysfsTer9) c.895_898del (p.Thr299CysfsTer9) c.820_823del (p.Thr274CysfsTer9) c.574_577del (p.Thr192CysfsTer9) c.*464_*467del (n.*464_*467del) c.916_919del (p.Thr306CysfsTer9) c.841_844del (p.Thr281CysfsTer9) | gnomAD v4 |
| 2 | g.174750126A>C | CA430022597 | CHRNA1 | c.333T>G (p.Thr111=) c.897T>G (p.Thr299=) c.822T>G (p.Thr274=) c.576T>G (p.Thr192=) c.*466T>G (n.*466T>G) c.918T>G (p.Thr306=) c.843T>G (p.Thr281=) | gnomAD v4 |
| 2 | g.174750126A>G | CA430022599 | CHRNA1 | c.333T>C (p.Thr111=) c.897T>C (p.Thr299=) c.822T>C (p.Thr274=) c.576T>C (p.Thr192=) c.*466T>C (n.*466T>C) c.918T>C (p.Thr306=) c.843T>C (p.Thr281=) | |
| 2 | g.174750126A>T | CA430022596 | CHRNA1 | c.333T>A (p.Thr111=) c.897T>A (p.Thr299=) c.822T>A (p.Thr274=) c.576T>A (p.Thr192=) c.*466T>A (n.*466T>A) c.918T>A (p.Thr306=) c.843T>A (p.Thr281=) | |
| 2 | g.174750127G>A | CA258181 | CHRNA1 | c.332C>T (p.Thr111Ile) c.896C>T (p.Thr299Ile) c.821C>T (p.Thr274Ile) c.575C>T (p.Thr192Ile) c.*465C>T (n.*465C>T) c.917C>T (p.Thr306Ile) c.842C>T (p.Thr281Ile) | ClinVar dbSNP |
| 2 | g.174750127G>C | CA349336898 | CHRNA1 | c.332C>G (p.Thr111Ser) c.896C>G (p.Thr299Ser) c.821C>G (p.Thr274Ser) c.575C>G (p.Thr192Ser) c.*465C>G (n.*465C>G) c.917C>G (p.Thr306Ser) c.842C>G (p.Thr281Ser) | |
| 2 | g.174750127G= | CA1308832576 | CHRNA1 | c.332C= (p.Thr111=) c.896C= (p.Thr299=) c.821C= (p.Thr274=) c.575C= (p.Thr192=) c.*465C= (n.*465C=) c.917C= (p.Thr306=) c.842C= (p.Thr281=) | |
| 2 | g.174750127G>T | CA349336900 | CHRNA1 | c.332C>A (p.Thr111Asn) c.896C>A (p.Thr299Asn) c.821C>A (p.Thr274Asn) c.575C>A (p.Thr192Asn) c.*465C>A (n.*465C>A) c.917C>A (p.Thr306Asn) c.842C>A (p.Thr281Asn) | |
| 2 | g.174750128T>A | CA349336906 | CHRNA1 | c.331A>T (p.Thr111Ser) c.895A>T (p.Thr299Ser) c.820A>T (p.Thr274Ser) c.574A>T (p.Thr192Ser) c.*464A>T (n.*464A>T) c.916A>T (p.Thr306Ser) c.841A>T (p.Thr281Ser) | dbSNP gnomAD v4 |
| 2 | g.174750128T>C | CA349336909 | CHRNA1 | c.331A>G (p.Thr111Ala) c.895A>G (p.Thr299Ala) c.820A>G (p.Thr274Ala) c.574A>G (p.Thr192Ala) c.*464A>G (n.*464A>G) c.916A>G (p.Thr306Ala) c.841A>G (p.Thr281Ala) | |
| 2 | g.174750128T>G | CA349336907 | CHRNA1 | c.331A>C (p.Thr111Pro) c.895A>C (p.Thr299Pro) c.820A>C (p.Thr274Pro) c.574A>C (p.Thr192Pro) c.*464A>C (n.*464A>C) c.916A>C (p.Thr306Pro) c.841A>C (p.Thr281Pro) | |
| 2 | g.174750128T= | CA1308832577 | CHRNA1 | c.331A= (p.Thr111=) c.895A= (p.Thr299=) c.820A= (p.Thr274=) c.574A= (p.Thr192=) c.*464A= (n.*464A=) c.916A= (p.Thr306=) c.841A= (p.Thr281=) | |
| 2 | g.174750129C>A | CA349336910 | CHRNA1 | c.330G>T (p.Leu110Phe) c.894G>T (p.Leu298Phe) c.819G>T (p.Leu273Phe) c.573G>T (p.Leu191Phe) c.*463G>T (n.*463G>T) c.915G>T (p.Leu305Phe) c.840G>T (p.Leu280Phe) | gnomAD v4 |
| 2 | g.174750129C= | CA1308832578 | CHRNA1 | c.330G= (p.Leu110=) c.894G= (p.Leu298=) c.819G= (p.Leu273=) c.573G= (p.Leu191=) c.*463G= (n.*463G=) c.915G= (p.Leu305=) c.840G= (p.Leu280=) | |
| 2 | g.174750129C>G | CA349336911 | CHRNA1 | c.330G>C (p.Leu110Phe) c.894G>C (p.Leu298Phe) c.819G>C (p.Leu273Phe) c.573G>C (p.Leu191Phe) c.*463G>C (n.*463G>C) c.915G>C (p.Leu305Phe) c.840G>C (p.Leu280Phe) | |
| 2 | g.174750129C>T | CA60849051 | CHRNA1 | c.330G>A (p.Leu110=) c.894G>A (p.Leu298=) c.819G>A (p.Leu273=) c.573G>A (p.Leu191=) c.*463G>A (n.*463G>A) c.915G>A (p.Leu305=) c.840G>A (p.Leu280=) | dbSNP |
| 2 | g.174750130A>C | CA349336917 | CHRNA1 | c.329T>G (p.Leu110Trp) c.893T>G (p.Leu298Trp) c.818T>G (p.Leu273Trp) c.572T>G (p.Leu191Trp) c.*462T>G (n.*462T>G) c.914T>G (p.Leu305Trp) c.839T>G (p.Leu280Trp) | |
| 2 | g.174750130A>G | CA349336918 | CHRNA1 | c.329T>C (p.Leu110Ser) c.893T>C (p.Leu298Ser) c.818T>C (p.Leu273Ser) c.572T>C (p.Leu191Ser) c.*462T>C (n.*462T>C) c.914T>C (p.Leu305Ser) c.839T>C (p.Leu280Ser) | gnomAD v4 |
| 2 | g.174750130A>T | CA349336921 | CHRNA1 | c.329T>A (p.Leu110Ter) c.893T>A (p.Leu298Ter) c.818T>A (p.Leu273Ter) c.572T>A (p.Leu191Ter) c.*462T>A (n.*462T>A) c.914T>A (p.Leu305Ter) c.839T>A (p.Leu280Ter) | |
| 2 | g.174750131A>C | CA349336923 | CHRNA1 | c.328T>G (p.Leu110Val) c.892T>G (p.Leu298Val) c.817T>G (p.Leu273Val) c.571T>G (p.Leu191Val) c.*461T>G (n.*461T>G) c.913T>G (p.Leu305Val) c.838T>G (p.Leu280Val) | |
| 2 | g.174750131A>G | CA430022603 | CHRNA1 | c.328T>C (p.Leu110=) c.892T>C (p.Leu298=) c.817T>C (p.Leu273=) c.571T>C (p.Leu191=) c.*461T>C (n.*461T>C) c.913T>C (p.Leu305=) c.838T>C (p.Leu280=) | |
| 2 | g.174750131A>T | CA349336925 | CHRNA1 | c.328T>A (p.Leu110Met) c.892T>A (p.Leu298Met) c.817T>A (p.Leu273Met) c.571T>A (p.Leu191Met) c.*461T>A (n.*461T>A) c.913T>A (p.Leu305Met) c.838T>A (p.Leu280Met) | |
| 2 | g.174750132A>C | CA430022604 | CHRNA1 | c.327T>G (p.Ser109=) c.891T>G (p.Ser297=) c.816T>G (p.Ser272=) c.570T>G (p.Ser190=) c.*460T>G (n.*460T>G) c.912T>G (p.Ser304=) c.837T>G (p.Ser279=) | |
| 2 | g.174750132A>G | CA430022607 | CHRNA1 | c.327T>C (p.Ser109=) c.891T>C (p.Ser297=) c.816T>C (p.Ser272=) c.570T>C (p.Ser190=) c.*460T>C (n.*460T>C) c.912T>C (p.Ser304=) c.837T>C (p.Ser279=) | |
| 2 | g.174750132A>T | CA430022605 | CHRNA1 | c.327T>A (p.Ser109=) c.891T>A (p.Ser297=) c.816T>A (p.Ser272=) c.570T>A (p.Ser190=) c.*460T>A (n.*460T>A) c.912T>A (p.Ser304=) c.837T>A (p.Ser279=) | |
| 2 | g.174750133G>A | CA349336927 | CHRNA1 | c.326C>T (p.Ser109Phe) c.890C>T (p.Ser297Phe) c.815C>T (p.Ser272Phe) c.569C>T (p.Ser190Phe) c.*459C>T (n.*459C>T) c.911C>T (p.Ser304Phe) c.836C>T (p.Ser279Phe) | |
| 2 | g.174750133G>C | CA349336930 | CHRNA1 | c.326C>G (p.Ser109Cys) c.890C>G (p.Ser297Cys) c.815C>G (p.Ser272Cys) c.569C>G (p.Ser190Cys) c.*459C>G (n.*459C>G) c.911C>G (p.Ser304Cys) c.836C>G (p.Ser279Cys) | |
| 2 | g.174750133G>T | CA349336934 | CHRNA1 | c.326C>A (p.Ser109Tyr) c.890C>A (p.Ser297Tyr) c.815C>A (p.Ser272Tyr) c.569C>A (p.Ser190Tyr) c.*459C>A (n.*459C>A) c.911C>A (p.Ser304Tyr) c.836C>A (p.Ser279Tyr) | |
| 2 | g.174750134A>C | CA349336938 | CHRNA1 | c.325T>G (p.Ser109Ala) c.889T>G (p.Ser297Ala) c.814T>G (p.Ser272Ala) c.568T>G (p.Ser190Ala) c.*458T>G (n.*458T>G) c.910T>G (p.Ser304Ala) c.835T>G (p.Ser279Ala) | |
| 2 | g.174750134A>G | CA349336939 | CHRNA1 | c.325T>C (p.Ser109Pro) c.889T>C (p.Ser297Pro) c.814T>C (p.Ser272Pro) c.568T>C (p.Ser190Pro) c.*458T>C (n.*458T>C) c.910T>C (p.Ser304Pro) c.835T>C (p.Ser279Pro) | |
| 2 | g.174750134A>T | CA349336940 | CHRNA1 | c.325T>A (p.Ser109Thr) c.889T>A (p.Ser297Thr) c.814T>A (p.Ser272Thr) c.568T>A (p.Ser190Thr) c.*458T>A (n.*458T>A) c.910T>A (p.Ser304Thr) c.835T>A (p.Ser279Thr) | |
| 2 | g.174750135C>A | CA430022610 | CHRNA1 | c.324G>T (p.Leu108=) c.888G>T (p.Leu296=) c.813G>T (p.Leu271=) c.567G>T (p.Leu189=) c.*457G>T (n.*457G>T) c.909G>T (p.Leu303=) c.834G>T (p.Leu278=) | |
| 2 | g.174750135C= | CA1308832579 | CHRNA1 | c.324G= (p.Leu108=) c.888G= (p.Leu296=) c.813G= (p.Leu271=) c.567G= (p.Leu189=) c.*457G= (n.*457G=) c.909G= (p.Leu303=) c.834G= (p.Leu278=) | |
| 2 | g.174750135C>G | CA1974439 | CHRNA1 | c.324G>C (p.Leu108=) c.888G>C (p.Leu296=) c.813G>C (p.Leu271=) c.567G>C (p.Leu189=) c.*457G>C (n.*457G>C) c.909G>C (p.Leu303=) c.834G>C (p.Leu278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.174750135C>T | CA1974438 | CHRNA1 | c.324G>A (p.Leu108=) c.888G>A (p.Leu296=) c.813G>A (p.Leu271=) c.567G>A (p.Leu189=) c.*457G>A (n.*457G>A) c.909G>A (p.Leu303=) c.834G>A (p.Leu278=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |