| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.29220776del | CA2658461731 | ALK | c.3576del (p.Phe1193SerfsTer?) c.803del n.453del c.372del (p.Phe125SerfsTer?) c.456del (p.Phe153SerfsTer?) c.2445del (p.Phe816SerfsTer?) c.729del (p.Phe244SerfsTer?) | gnomAD v4 |
| 2 | g.29220776C>A | CA346473082 | ALK | c.3575G>T (p.Arg1192Leu) c.802G>T n.452G>T c.371G>T (p.Arg124Leu) c.455G>T (p.Arg152Leu) c.2444G>T (p.Arg815Leu) c.728G>T (p.Arg243Leu) | gnomAD v4 |
| 2 | g.29220776C= | CA1241089782 | ALK | c.3575G= (p.Arg1192=) c.802G= n.452G= c.371G= (p.Arg124=) c.455G= (p.Arg152=) c.2444G= (p.Arg815=) c.728G= (p.Arg243=) | |
| 2 | g.29220776C>G | CA341486 | ALK | c.3575G>C (p.Arg1192Pro) c.802G>C n.452G>C c.371G>C (p.Arg124Pro) c.455G>C (p.Arg152Pro) c.2444G>C (p.Arg815Pro) c.728G>C (p.Arg243Pro) | ClinVar dbSNP |
| 2 | g.29220776C>T | CA346473083 | ALK | c.3575G>A (p.Arg1192Gln) c.802G>A n.452G>A c.371G>A (p.Arg124Gln) c.455G>A (p.Arg152Gln) c.2444G>A (p.Arg815Gln) c.728G>A (p.Arg243Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.29220777G>A | CA1593860 | ALK | c.3574C>T (p.Arg1192Trp) c.801C>T n.451C>T c.370C>T (p.Arg124Trp) c.454C>T (p.Arg152Trp) c.2443C>T (p.Arg815Trp) c.727C>T (p.Arg243Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.29220777G>C | CA44655555 | ALK | c.3574C>G (p.Arg1192Gly) c.801C>G n.451C>G c.370C>G (p.Arg124Gly) c.454C>G (p.Arg152Gly) c.2443C>G (p.Arg815Gly) c.727C>G (p.Arg243Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.29220777G= | CA1241089783 | ALK | c.3574C= (p.Arg1192=) c.801C= n.451C= c.370C= (p.Arg124=) c.454C= (p.Arg152=) c.2443C= (p.Arg815=) c.727C= (p.Arg243=) | |
| 2 | g.29220777G>T | CA425619411 | ALK | c.3574C>A (p.Arg1192=) c.801C>A n.451C>A c.370C>A (p.Arg124=) c.454C>A (p.Arg152=) c.2443C>A (p.Arg815=) c.727C>A (p.Arg243=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29220778G>A | CA425619412 | ALK | c.3573C>T (p.Pro1191=) c.800C>T n.450C>T c.369C>T (p.Pro123=) c.453C>T (p.Pro151=) c.2442C>T (p.Pro814=) c.726C>T (p.Pro242=) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29220778G>C | CA425619413 | ALK | c.3573C>G (p.Pro1191=) c.800C>G n.450C>G c.369C>G (p.Pro123=) c.453C>G (p.Pro151=) c.2442C>G (p.Pro814=) c.726C>G (p.Pro242=) | dbSNP |
| 2 | g.29220778G>T | CA425619414 | ALK | c.3573C>A (p.Pro1191=) c.800C>A n.450C>A c.369C>A (p.Pro123=) c.453C>A (p.Pro151=) c.2442C>A (p.Pro814=) c.726C>A (p.Pro242=) | dbSNP COSMIC |
| 2 | g.29220779G>A | CA346473084 | ALK | c.3572C>T (p.Pro1191Leu) c.799C>T n.449C>T c.368C>T (p.Pro123Leu) c.452C>T (p.Pro151Leu) c.2441C>T (p.Pro814Leu) c.725C>T (p.Pro242Leu) | dbSNP COSMIC |
| 2 | g.29220779G>C | CA346473085 | ALK | c.3572C>G (p.Pro1191Arg) c.799C>G n.449C>G c.368C>G (p.Pro123Arg) c.452C>G (p.Pro151Arg) c.2441C>G (p.Pro814Arg) c.725C>G (p.Pro242Arg) | dbSNP |
| 2 | g.29220779G= | CA1241089784 | ALK | c.3572C= (p.Pro1191=) c.799C= n.449C= c.368C= (p.Pro123=) c.452C= (p.Pro151=) c.2441C= (p.Pro814=) c.725C= (p.Pro242=) | |
| 2 | g.29220779G>T | CA16610701 | ALK | c.3572C>A (p.Pro1191His) c.799C>A n.449C>A c.368C>A (p.Pro123His) c.452C>A (p.Pro151His) c.2441C>A (p.Pro814His) c.725C>A (p.Pro242His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.29220780G>A | CA346473086 | ALK | c.3571C>T (p.Pro1191Ser) c.798C>T n.448C>T c.367C>T (p.Pro123Ser) c.451C>T (p.Pro151Ser) c.2440C>T (p.Pro814Ser) c.724C>T (p.Pro242Ser) | dbSNP gnomAD v4 COSMIC |
| 2 | g.29220780G>C | CA346473087 | ALK | c.3571C>G (p.Pro1191Ala) c.798C>G n.448C>G c.367C>G (p.Pro123Ala) c.451C>G (p.Pro151Ala) c.2440C>G (p.Pro814Ala) c.724C>G (p.Pro242Ala) | dbSNP |
| 2 | g.29220780G>T | CA346473088 | ALK | c.3571C>A (p.Pro1191Thr) c.798C>A n.448C>A c.367C>A (p.Pro123Thr) c.451C>A (p.Pro151Thr) c.2440C>A (p.Pro814Thr) c.724C>A (p.Pro242Thr) | ClinVar dbSNP |
| 2 | g.29220781C>A | CA425619415 | ALK | c.3570G>T (p.Leu1190=) c.797G>T n.447G>T c.366G>T (p.Leu122=) c.450G>T (p.Leu150=) c.2439G>T (p.Leu813=) c.723G>T (p.Leu241=) | |
| 2 | g.29220781C= | CA1241089785 | ALK | c.3570G= (p.Leu1190=) c.797G= n.447G= c.366G= (p.Leu122=) c.450G= (p.Leu150=) c.2439G= (p.Leu813=) c.723G= (p.Leu241=) | |
| 2 | g.29220781C>G | CA425619416 | ALK | c.3570G>C (p.Leu1190=) c.797G>C n.447G>C c.366G>C (p.Leu122=) c.450G>C (p.Leu150=) c.2439G>C (p.Leu813=) c.723G>C (p.Leu241=) | dbSNP |
| 2 | g.29220781C>T | CA425619417 | ALK | c.3570G>A (p.Leu1190=) c.797G>A n.447G>A c.366G>A (p.Leu122=) c.450G>A (p.Leu150=) c.2439G>A (p.Leu813=) c.723G>A (p.Leu241=) | dbSNP |
| 2 | g.29220782A= | CA1241089786 | ALK | c.3569T= (p.Leu1190=) c.796T= n.446T= c.365T= (p.Leu122=) c.449T= (p.Leu150=) c.2438T= (p.Leu813=) c.722T= (p.Leu241=) | |
| 2 | g.29220782A>C | CA346473089 | ALK | c.3569T>G (p.Leu1190Arg) c.796T>G n.446T>G c.365T>G (p.Leu122Arg) c.449T>G (p.Leu150Arg) c.2438T>G (p.Leu813Arg) c.722T>G (p.Leu241Arg) | |
| 2 | g.29220782A>G | CA346473090 | ALK | c.3569T>C (p.Leu1190Pro) c.796T>C n.446T>C c.365T>C (p.Leu122Pro) c.449T>C (p.Leu150Pro) c.2438T>C (p.Leu813Pro) c.722T>C (p.Leu241Pro) | ClinVar dbSNP |
| 2 | g.29220782A>T | CA346473091 | ALK | c.3569T>A (p.Leu1190Gln) c.796T>A n.446T>A c.365T>A (p.Leu122Gln) c.449T>A (p.Leu150Gln) c.2438T>A (p.Leu813Gln) c.722T>A (p.Leu241Gln) | |
| 2 | g.29220783G>A | CA425619418 | ALK | c.3568C>T (p.Leu1190=) c.795C>T n.445C>T c.364C>T (p.Leu122=) c.448C>T (p.Leu150=) c.2437C>T (p.Leu813=) c.721C>T (p.Leu241=) | dbSNP |
| 2 | g.29220783G>C | CA346473092 | ALK | c.3568C>G (p.Leu1190Val) c.795C>G n.445C>G c.364C>G (p.Leu122Val) c.448C>G (p.Leu150Val) c.2437C>G (p.Leu813Val) c.721C>G (p.Leu241Val) | dbSNP gnomAD v4 |
| 2 | g.29220783G= | CA1241089787 | ALK | c.3568C= (p.Leu1190=) c.795C= n.445C= c.364C= (p.Leu122=) c.448C= (p.Leu150=) c.2437C= (p.Leu813=) c.721C= (p.Leu241=) | |
| 2 | g.29220783G>T | CA1593861 | ALK | c.3568C>A (p.Leu1190Met) c.795C>A n.445C>A c.364C>A (p.Leu122Met) c.448C>A (p.Leu150Met) c.2437C>A (p.Leu813Met) c.721C>A (p.Leu241Met) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 2 | g.29220784G>A | CA425619421 | ALK | c.3567C>T (p.Ser1189=) c.794C>T n.444C>T c.363C>T (p.Ser121=) c.447C>T (p.Ser149=) c.2436C>T (p.Ser812=) c.720C>T (p.Ser240=) | ClinVar gnomAD v4 |
| 2 | g.29220784G>C | CA425619420 | ALK | c.3567C>G (p.Ser1189=) c.794C>G n.444C>G c.363C>G (p.Ser121=) c.447C>G (p.Ser149=) c.2436C>G (p.Ser812=) c.720C>G (p.Ser240=) | ClinVar |
| 2 | g.29220784G>T | CA425619419 | ALK | c.3567C>A (p.Ser1189=) c.794C>A n.444C>A c.363C>A (p.Ser121=) c.447C>A (p.Ser149=) c.2436C>A (p.Ser812=) c.720C>A (p.Ser240=) | dbSNP |
| 2 | g.29220785G>A | CA346473094 | ALK | c.3566C>T (p.Ser1189Phe) c.793C>T n.443C>T c.362C>T (p.Ser121Phe) c.446C>T (p.Ser149Phe) c.2435C>T (p.Ser812Phe) c.719C>T (p.Ser240Phe) | dbSNP COSMIC |
| 2 | g.29220785G>C | CA346473093 | ALK | c.3566C>G (p.Ser1189Cys) c.793C>G n.443C>G c.362C>G (p.Ser121Cys) c.446C>G (p.Ser149Cys) c.2435C>G (p.Ser812Cys) c.719C>G (p.Ser240Cys) | dbSNP gnomAD v4 |
| 2 | g.29220785G= | CA1241089788 | ALK | c.3566C= (p.Ser1189=) c.793C= n.443C= c.362C= (p.Ser121=) c.446C= (p.Ser149=) c.2435C= (p.Ser812=) c.719C= (p.Ser240=) | |
| 2 | g.29220785G>T | CA44655575 | ALK | c.3566C>A (p.Ser1189Tyr) c.793C>A n.443C>A c.362C>A (p.Ser121Tyr) c.446C>A (p.Ser149Tyr) c.2435C>A (p.Ser812Tyr) c.719C>A (p.Ser240Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.29220786A>C | CA346473095 | ALK | c.3565T>G (p.Ser1189Ala) c.792T>G n.442T>G c.361T>G (p.Ser121Ala) c.445T>G (p.Ser149Ala) c.2434T>G (p.Ser812Ala) c.718T>G (p.Ser240Ala) | dbSNP |
| 2 | g.29220786A>G | CA346473096 | ALK | c.3565T>C (p.Ser1189Pro) c.792T>C n.442T>C c.361T>C (p.Ser121Pro) c.445T>C (p.Ser149Pro) c.2434T>C (p.Ser812Pro) c.718T>C (p.Ser240Pro) | |
| 2 | g.29220786A>T | CA346473097 | ALK | c.3565T>A (p.Ser1189Thr) c.792T>A n.442T>A c.361T>A (p.Ser121Thr) c.445T>A (p.Ser149Thr) c.2434T>A (p.Ser812Thr) c.718T>A (p.Ser240Thr) | dbSNP |
| 2 | g.29220787T>A | CA346473098 | ALK | c.3564A>T (p.Gln1188His) c.791A>T n.441A>T c.360A>T (p.Gln120His) c.444A>T (p.Gln148His) c.2433A>T (p.Gln811His) c.717A>T (p.Gln239His) | dbSNP gnomAD v4 |
| 2 | g.29220787T>C | CA425619422 | ALK | c.3564A>G (p.Gln1188=) c.791A>G n.441A>G c.360A>G (p.Gln120=) c.444A>G (p.Gln148=) c.2433A>G (p.Gln811=) c.717A>G (p.Gln239=) | dbSNP |
| 2 | g.29220787T>G | CA346473099 | ALK | c.3564A>C (p.Gln1188His) c.791A>C n.441A>C c.360A>C (p.Gln120His) c.444A>C (p.Gln148His) c.2433A>C (p.Gln811His) c.717A>C (p.Gln239His) | dbSNP |
| 2 | g.29220788T>A | CA346473100 | ALK | c.3563A>T (p.Gln1188Leu) c.790A>T n.440A>T c.359A>T (p.Gln120Leu) c.443A>T (p.Gln148Leu) c.2432A>T (p.Gln811Leu) c.716A>T (p.Gln239Leu) | |
| 2 | g.29220788T>C | CA346473101 | ALK | c.3563A>G (p.Gln1188Arg) c.790A>G n.440A>G c.359A>G (p.Gln120Arg) c.443A>G (p.Gln148Arg) c.2432A>G (p.Gln811Arg) c.716A>G (p.Gln239Arg) | ClinVar dbSNP gnomAD v4 |
| 2 | g.29220788T>G | CA346473102 | ALK | c.3563A>C (p.Gln1188Pro) c.790A>C n.440A>C c.359A>C (p.Gln120Pro) c.443A>C (p.Gln148Pro) c.2432A>C (p.Gln811Pro) c.716A>C (p.Gln239Pro) | |
| 2 | g.29220788T= | CA1241089789 | ALK | c.3563A= (p.Gln1188=) c.790A= n.440A= c.359A= (p.Gln120=) c.443A= (p.Gln148=) c.2432A= (p.Gln811=) c.716A= (p.Gln239=) | |
| 2 | g.29220789G>A | CA346473103 | ALK | c.3562C>T (p.Gln1188Ter) c.789C>T n.439C>T c.358C>T (p.Gln120Ter) c.442C>T (p.Gln148Ter) c.2431C>T (p.Gln811Ter) c.715C>T (p.Gln239Ter) | ClinVar dbSNP |
| 2 | g.29220789G>C | CA346473104 | ALK | c.3562C>G (p.Gln1188Glu) c.789C>G n.439C>G c.358C>G (p.Gln120Glu) c.442C>G (p.Gln148Glu) c.2431C>G (p.Gln811Glu) c.715C>G (p.Gln239Glu) | dbSNP |