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) |