WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.55201204A= | CA1708928412 | EGFR | c.2804A= (p.His935=) c.900-4143A= n.707A= n.632A= c.2963A= (p.His988=) c.*28+28276A= (n.*28+28276A=) c.2828A= (p.His943=) c.2162A= (p.His721=) | |
| 7 | g.55201204A>C | CA158465 | EGFR | c.2804A>C (p.His935Pro) c.900-4143A>C n.707A>C n.632A>C c.2963A>C (p.His988Pro) c.*28+28276A>C (n.*28+28276A>C) c.2828A>C (p.His943Pro) c.2162A>C (p.His721Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55201204A>G | CA4266228 | EGFR | c.2804A>G (p.His935Arg) c.900-4143A>G n.707A>G n.632A>G c.2963A>G (p.His988Arg) c.*28+28276A>G (n.*28+28276A>G) c.2828A>G (p.His943Arg) c.2162A>G (p.His721Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.55201204A>T | CA367582370 | EGFR | c.2804A>T (p.His935Leu) c.900-4143A>T n.707A>T n.632A>T c.2963A>T (p.His988Leu) c.*28+28276A>T (n.*28+28276A>T) c.2828A>T (p.His943Leu) c.2162A>T (p.His721Leu) | |
| 7 | g.55201205T>A | CA367582371 | EGFR | c.2805T>A (p.His935Gln) c.900-4142T>A n.708T>A n.633T>A c.2964T>A (p.His988Gln) c.*28+28277T>A (n.*28+28277T>A) c.2829T>A (p.His943Gln) c.2163T>A (p.His721Gln) | dbSNP |
| 7 | g.55201205T>C | CA454968509 | EGFR | c.2805T>C (p.His935=) c.900-4142T>C n.708T>C n.633T>C c.2964T>C (p.His988=) c.*28+28277T>C (n.*28+28277T>C) c.2829T>C (p.His943=) c.2163T>C (p.His721=) | dbSNP |
| 7 | g.55201205T>G | CA367582372 | EGFR | c.2805T>G (p.His935Gln) c.900-4142T>G n.708T>G n.633T>G c.2964T>G (p.His988Gln) c.*28+28277T>G (n.*28+28277T>G) c.2829T>G (p.His943Gln) c.2163T>G (p.His721Gln) | |
| 7 | g.55201206T>A | CA367582373 | EGFR | c.2806T>A (p.Leu936Met) c.900-4141T>A n.709T>A n.634T>A c.2965T>A (p.Leu989Met) c.*28+28278T>A (n.*28+28278T>A) c.2830T>A (p.Leu944Met) c.2164T>A (p.Leu722Met) | dbSNP |
| 7 | g.55201206T>C | CA454968510 | EGFR | c.2806T>C (p.Leu936=) c.900-4141T>C n.709T>C n.634T>C c.2965T>C (p.Leu989=) c.*28+28278T>C (n.*28+28278T>C) c.2830T>C (p.Leu944=) c.2164T>C (p.Leu722=) | dbSNP |
| 7 | g.55201206T>G | CA367582374 | EGFR | c.2806T>G (p.Leu936Val) c.900-4141T>G n.709T>G n.634T>G c.2965T>G (p.Leu989Val) c.*28+28278T>G (n.*28+28278T>G) c.2830T>G (p.Leu944Val) c.2164T>G (p.Leu722Val) | |
| 7 | g.55201207T>A | CA367582375 | EGFR | c.2807T>A (p.Leu936Ter) c.900-4140T>A n.710T>A n.635T>A c.2966T>A (p.Leu989Ter) c.*28+28279T>A (n.*28+28279T>A) c.2831T>A (p.Leu944Ter) c.2165T>A (p.Leu722Ter) | dbSNP |
| 7 | g.55201207T>C | CA367582376 | EGFR | c.2807T>C (p.Leu936Ser) c.900-4140T>C n.710T>C n.635T>C c.2966T>C (p.Leu989Ser) c.*28+28279T>C (n.*28+28279T>C) c.2831T>C (p.Leu944Ser) c.2165T>C (p.Leu722Ser) | |
| 7 | g.55201207T>G | CA367582377 | EGFR | c.2807T>G (p.Leu936Trp) c.900-4140T>G n.710T>G n.635T>G c.2966T>G (p.Leu989Trp) c.*28+28279T>G (n.*28+28279T>G) c.2831T>G (p.Leu944Trp) c.2165T>G (p.Leu722Trp) | |
| 7 | g.55201208G>A | CA454968511 | EGFR | c.2808G>A (p.Leu936=) c.900-4139G>A n.711G>A n.636G>A c.2967G>A (p.Leu989=) c.*28+28280G>A (n.*28+28280G>A) c.2832G>A (p.Leu944=) c.2166G>A (p.Leu722=) | dbSNP |
| 7 | g.55201208G>C | CA367582378 | EGFR | c.2808G>C (p.Leu936Phe) c.900-4139G>C n.711G>C n.636G>C c.2967G>C (p.Leu989Phe) c.*28+28280G>C (n.*28+28280G>C) c.2832G>C (p.Leu944Phe) c.2166G>C (p.Leu722Phe) | dbSNP |
| 7 | g.55201208G>T | CA367582379 | EGFR | c.2808G>T (p.Leu936Phe) c.900-4139G>T n.711G>T n.636G>T c.2967G>T (p.Leu989Phe) c.*28+28280G>T (n.*28+28280G>T) c.2832G>T (p.Leu944Phe) c.2166G>T (p.Leu722Phe) | dbSNP |
| 7 | g.55201209C>A | CA367582380 | EGFR | c.2809C>A (p.Pro937Thr) c.900-4138C>A n.712C>A n.637C>A c.2968C>A (p.Pro990Thr) c.*28+28281C>A (n.*28+28281C>A) c.2833C>A (p.Pro945Thr) c.2167C>A (p.Pro723Thr) | dbSNP |
| 7 | g.55201209C= | CA1708928413 | EGFR | c.2809C= (p.Pro937=) c.900-4138C= n.712C= n.637C= c.2968C= (p.Pro990=) c.*28+28281C= (n.*28+28281C=) c.2833C= (p.Pro945=) c.2167C= (p.Pro723=) | |
| 7 | g.55201209C>G | CA367582381 | EGFR | c.2809C>G (p.Pro937Ala) c.900-4138C>G n.712C>G n.637C>G c.2968C>G (p.Pro990Ala) c.*28+28281C>G (n.*28+28281C>G) c.2833C>G (p.Pro945Ala) c.2167C>G (p.Pro723Ala) | dbSNP |
| 7 | g.55201209C>T | CA4266229 | EGFR | c.2809C>T (p.Pro937Ser) c.900-4138C>T n.712C>T n.637C>T c.2968C>T (p.Pro990Ser) c.*28+28281C>T (n.*28+28281C>T) c.2833C>T (p.Pro945Ser) c.2167C>T (p.Pro723Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55201210C>A | CA367582383 | EGFR | c.2810C>A (p.Pro937Gln) c.900-4137C>A n.713C>A n.638C>A c.2969C>A (p.Pro990Gln) c.*28+28282C>A (n.*28+28282C>A) c.2834C>A (p.Pro945Gln) c.2168C>A (p.Pro723Gln) | dbSNP |
| 7 | g.55201210C>G | CA367582382 | EGFR | c.2810C>G (p.Pro937Arg) c.900-4137C>G n.713C>G n.638C>G c.2969C>G (p.Pro990Arg) c.*28+28282C>G (n.*28+28282C>G) c.2834C>G (p.Pro945Arg) c.2168C>G (p.Pro723Arg) | dbSNP gnomAD v4 |
| 7 | g.55201210C>T | CA367582384 | EGFR | c.2810C>T (p.Pro937Leu) c.900-4137C>T n.713C>T n.638C>T c.2969C>T (p.Pro990Leu) c.*28+28282C>T (n.*28+28282C>T) c.2834C>T (p.Pro945Leu) c.2168C>T (p.Pro723Leu) | dbSNP |
| 7 | g.55201211A>C | CA454968515 | EGFR | c.2811A>C (p.Pro937=) c.900-4136A>C n.714A>C n.639A>C c.2970A>C (p.Pro990=) c.*28+28283A>C (n.*28+28283A>C) c.2835A>C (p.Pro945=) c.2169A>C (p.Pro723=) | |
| 7 | g.55201211A>G | CA454968516 | EGFR | c.2811A>G (p.Pro937=) c.900-4136A>G n.714A>G n.639A>G c.2970A>G (p.Pro990=) c.*28+28283A>G (n.*28+28283A>G) c.2835A>G (p.Pro945=) c.2169A>G (p.Pro723=) | dbSNP |
| 7 | g.55201211A>T | CA454968517 | EGFR | c.2811A>T (p.Pro937=) c.900-4136A>T n.714A>T n.639A>T c.2970A>T (p.Pro990=) c.*28+28283A>T (n.*28+28283A>T) c.2835A>T (p.Pro945=) c.2169A>T (p.Pro723=) | dbSNP |
| 7 | g.55201212A= | CA1708928414 | EGFR | c.2812A= (p.Ser938=) c.900-4135A= n.715A= n.640A= c.2971A= (p.Ser991=) c.*28+28284A= (n.*28+28284A=) c.2836A= (p.Ser946=) c.2170A= (p.Ser724=) | |
| 7 | g.55201212A>C | CA4266231 | EGFR | c.2812A>C (p.Ser938Arg) c.900-4135A>C n.715A>C n.640A>C c.2971A>C (p.Ser991Arg) c.*28+28284A>C (n.*28+28284A>C) c.2836A>C (p.Ser946Arg) c.2170A>C (p.Ser724Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55201212A>G | CA4266230 | EGFR | c.2812A>G (p.Ser938Gly) c.900-4135A>G n.715A>G n.640A>G c.2971A>G (p.Ser991Gly) c.*28+28284A>G (n.*28+28284A>G) c.2836A>G (p.Ser946Gly) c.2170A>G (p.Ser724Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.55201212A>T | CA367582385 | EGFR | c.2812A>T (p.Ser938Cys) c.900-4135A>T n.715A>T n.640A>T c.2971A>T (p.Ser991Cys) c.*28+28284A>T (n.*28+28284A>T) c.2836A>T (p.Ser946Cys) c.2170A>T (p.Ser724Cys) | |
| 7 | g.55201213G>A | CA367582386 | EGFR | c.2813G>A (p.Ser938Asn) c.900-4134G>A n.716G>A n.641G>A c.2972G>A (p.Ser991Asn) c.*28+28285G>A (n.*28+28285G>A) c.2837G>A (p.Ser946Asn) c.2171G>A (p.Ser724Asn) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55201213G>C | CA367582387 | EGFR | c.2813G>C (p.Ser938Thr) c.900-4134G>C n.716G>C n.641G>C c.2972G>C (p.Ser991Thr) c.*28+28285G>C (n.*28+28285G>C) c.2837G>C (p.Ser946Thr) c.2171G>C (p.Ser724Thr) | ClinVar dbSNP |
| 7 | g.55201213G= | CA1708928415 | EGFR | c.2813G= (p.Ser938=) c.900-4134G= n.716G= n.641G= c.2972G= (p.Ser991=) c.*28+28285G= (n.*28+28285G=) c.2837G= (p.Ser946=) c.2171G= (p.Ser724=) | |
| 7 | g.55201213G>T | CA367582388 | EGFR | c.2813G>T (p.Ser938Ile) c.900-4134G>T n.716G>T n.641G>T c.2972G>T (p.Ser991Ile) c.*28+28285G>T (n.*28+28285G>T) c.2837G>T (p.Ser946Ile) c.2171G>T (p.Ser724Ile) | |
| 7 | g.55201214T>A | CA367582390 | EGFR | c.2814T>A (p.Ser938Arg) c.900-4133T>A n.717T>A n.642T>A c.2973T>A (p.Ser991Arg) c.*28+28286T>A (n.*28+28286T>A) c.2838T>A (p.Ser946Arg) c.2172T>A (p.Ser724Arg) | dbSNP |
| 7 | g.55201214T>C | CA454968520 | EGFR | c.2814T>C (p.Ser938=) c.900-4133T>C n.717T>C n.642T>C c.2973T>C (p.Ser991=) c.*28+28286T>C (n.*28+28286T>C) c.2838T>C (p.Ser946=) c.2172T>C (p.Ser724=) | dbSNP |
| 7 | g.55201214T>G | CA367582389 | EGFR | c.2814T>G (p.Ser938Arg) c.900-4133T>G n.717T>G n.642T>G c.2973T>G (p.Ser991Arg) c.*28+28286T>G (n.*28+28286T>G) c.2838T>G (p.Ser946Arg) c.2172T>G (p.Ser724Arg) | dbSNP |
| 7 | g.55201215C>A | CA367582391 | EGFR | c.2815C>A (p.Pro939Thr) c.900-4132C>A n.718C>A n.643C>A c.2974C>A (p.Pro992Thr) c.*28+28287C>A (n.*28+28287C>A) c.2839C>A (p.Pro947Thr) c.2173C>A (p.Pro725Thr) | dbSNP |
| 7 | g.55201215C>G | CA367582392 | EGFR | c.2815C>G (p.Pro939Ala) c.900-4132C>G n.718C>G n.643C>G c.2974C>G (p.Pro992Ala) c.*28+28287C>G (n.*28+28287C>G) c.2839C>G (p.Pro947Ala) c.2173C>G (p.Pro725Ala) | dbSNP |
| 7 | g.55201215C>T | CA367582393 | EGFR | c.2815C>T (p.Pro939Ser) c.900-4132C>T n.718C>T n.643C>T c.2974C>T (p.Pro992Ser) c.*28+28287C>T (n.*28+28287C>T) c.2839C>T (p.Pro947Ser) c.2173C>T (p.Pro725Ser) | dbSNP |
| 7 | g.55201216C>A | CA367582394 | EGFR | c.2816C>A (p.Pro939His) c.900-4131C>A n.719C>A n.644C>A c.2975C>A (p.Pro992His) c.*28+28288C>A (n.*28+28288C>A) c.2840C>A (p.Pro947His) c.2174C>A (p.Pro725His) | dbSNP |
| 7 | g.55201216C>G | CA367582395 | EGFR | c.2816C>G (p.Pro939Arg) c.900-4131C>G n.719C>G n.644C>G c.2975C>G (p.Pro992Arg) c.*28+28288C>G (n.*28+28288C>G) c.2840C>G (p.Pro947Arg) c.2174C>G (p.Pro725Arg) | dbSNP |
| 7 | g.55201216C>T | CA367582396 | EGFR | c.2816C>T (p.Pro939Leu) c.900-4131C>T n.719C>T n.644C>T c.2975C>T (p.Pro992Leu) c.*28+28288C>T (n.*28+28288C>T) c.2840C>T (p.Pro947Leu) c.2174C>T (p.Pro725Leu) | dbSNP |
| 7 | g.55201217T>A | CA454968523 | EGFR | c.2817T>A (p.Pro939=) c.900-4130T>A n.720T>A n.645T>A c.2976T>A (p.Pro992=) c.*28+28289T>A (n.*28+28289T>A) c.2841T>A (p.Pro947=) c.2175T>A (p.Pro725=) | |
| 7 | g.55201217T>C | CA454968524 | EGFR | c.2817T>C (p.Pro939=) c.900-4130T>C n.720T>C n.645T>C c.2976T>C (p.Pro992=) c.*28+28289T>C (n.*28+28289T>C) c.2841T>C (p.Pro947=) c.2175T>C (p.Pro725=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.55201217T>G | CA454968522 | EGFR | c.2817T>G (p.Pro939=) c.900-4130T>G n.720T>G n.645T>G c.2976T>G (p.Pro992=) c.*28+28289T>G (n.*28+28289T>G) c.2841T>G (p.Pro947=) c.2175T>G (p.Pro725=) | ClinVar |
| 7 | g.55201217T= | CA1708928416 | EGFR | c.2817T= (p.Pro939=) c.900-4130T= n.720T= n.645T= c.2976T= (p.Pro992=) c.*28+28289T= (n.*28+28289T=) c.2841T= (p.Pro947=) c.2175T= (p.Pro725=) | |
| 7 | g.55201218A>C | CA367582397 | EGFR | c.2818A>C (p.Thr940Pro) c.900-4129A>C n.721A>C n.646A>C c.2977A>C (p.Thr993Pro) c.*28+28290A>C (n.*28+28290A>C) c.2842A>C (p.Thr948Pro) c.2176A>C (p.Thr726Pro) | ClinVar dbSNP |
| 7 | g.55201218A>G | CA367582399 | EGFR | c.2818A>G (p.Thr940Ala) c.900-4129A>G n.721A>G n.646A>G c.2977A>G (p.Thr993Ala) c.*28+28290A>G (n.*28+28290A>G) c.2842A>G (p.Thr948Ala) c.2176A>G (p.Thr726Ala) | ClinVar dbSNP gnomAD v4 |
| 7 | g.55201218A>T | CA367582398 | EGFR | c.2818A>T (p.Thr940Ser) c.900-4129A>T n.721A>T n.646A>T c.2977A>T (p.Thr993Ser) c.*28+28290A>T (n.*28+28290A>T) c.2842A>T (p.Thr948Ser) c.2176A>T (p.Thr726Ser) | dbSNP |