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 |
|---|---|---|---|---|---|
| 12 | g.9089938T>A | CA478327417 | A2M,KLRG1 | c.2682A>T (p.Gly894=) n.261A>T n.425A>T n.348+11612A>T c.2382A>T (p.Gly794=) c.2232A>T (p.Gly744=) c.*33+31772T>A (n.*33+31772T>A) | |
| 12 | g.9089938T>C | CA478327420 | A2M,KLRG1 | c.2682A>G (p.Gly894=) n.261A>G n.425A>G n.348+11612A>G c.2382A>G (p.Gly794=) c.2232A>G (p.Gly744=) c.*33+31772T>C (n.*33+31772T>C) | |
| 12 | g.9089938T>G | CA478327423 | A2M,KLRG1 | c.2682A>C (p.Gly894=) n.261A>C n.425A>C n.348+11612A>C c.2382A>C (p.Gly794=) c.2232A>C (p.Gly744=) c.*33+31772T>G (n.*33+31772T>G) | |
| 12 | g.9089939C>A | CA383844419 | A2M,KLRG1 | c.2681G>T (p.Gly894Val) n.260G>T n.424G>T n.348+11611G>T c.2381G>T (p.Gly794Val) c.2231G>T (p.Gly744Val) c.*33+31773C>A (n.*33+31773C>A) | |
| 12 | g.9089939C= | CA2015337184 | A2M,KLRG1 | c.2681G= (p.Gly894=) n.260G= n.424G= n.348+11611G= c.2381G= (p.Gly794=) c.2231G= (p.Gly744=) c.*33+31773C= (n.*33+31773C=) | |
| 12 | g.9089939C>G | CA383844417 | A2M,KLRG1 | c.2681G>C (p.Gly894Ala) n.260G>C n.424G>C n.348+11611G>C c.2381G>C (p.Gly794Ala) c.2231G>C (p.Gly744Ala) c.*33+31773C>G (n.*33+31773C>G) | gnomAD v4 |
| 12 | g.9089939C>T | CA383844414 | A2M,KLRG1 | c.2681G>A (p.Gly894Glu) n.260G>A n.424G>A n.348+11611G>A c.2381G>A (p.Gly794Glu) c.2231G>A (p.Gly744Glu) c.*33+31773C>T (n.*33+31773C>T) | dbSNP gnomAD v4 |
| 12 | g.9089940C>A | CA383844421 | A2M,KLRG1 | c.2680G>T (p.Gly894Ter) n.259G>T n.423G>T n.348+11610G>T c.2380G>T (p.Gly794Ter) c.2230G>T (p.Gly744Ter) c.*33+31774C>A (n.*33+31774C>A) | |
| 12 | g.9089940C= | CA2015337185 | A2M,KLRG1 | c.2680G= (p.Gly894=) n.259G= n.423G= n.348+11610G= c.2380G= (p.Gly794=) c.2230G= (p.Gly744=) c.*33+31774C= (n.*33+31774C=) | |
| 12 | g.9089940C>G | CA383844423 | A2M,KLRG1 | c.2680G>C (p.Gly894Arg) n.259G>C n.423G>C n.348+11610G>C c.2380G>C (p.Gly794Arg) c.2230G>C (p.Gly744Arg) c.*33+31774C>G (n.*33+31774C>G) | |
| 12 | g.9089940C>T | CA6438318 | A2M,KLRG1 | c.2680G>A (p.Gly894Arg) n.259G>A n.423G>A n.348+11610G>A c.2380G>A (p.Gly794Arg) c.2230G>A (p.Gly744Arg) c.*33+31774C>T (n.*33+31774C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.9089941G>A | CA6438319 | A2M,KLRG1 | c.2679C>T (p.His893=) n.258C>T n.422C>T n.348+11609C>T c.2379C>T (p.His793=) c.2229C>T (p.His743=) c.*33+31775G>A (n.*33+31775G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.9089941G>C | CA383844427 | A2M,KLRG1 | c.2679C>G (p.His893Gln) n.258C>G n.422C>G n.348+11609C>G c.2379C>G (p.His793Gln) c.2229C>G (p.His743Gln) c.*33+31775G>C (n.*33+31775G>C) | |
| 12 | g.9089941G= | CA2015337186 | A2M,KLRG1 | c.2679C= (p.His893=) n.258C= n.422C= n.348+11609C= c.2379C= (p.His793=) c.2229C= (p.His743=) c.*33+31775G= (n.*33+31775G=) | |
| 12 | g.9089941G>T | CA383844429 | A2M,KLRG1 | c.2679C>A (p.His893Gln) n.258C>A n.422C>A n.348+11609C>A c.2379C>A (p.His793Gln) c.2229C>A (p.His743Gln) c.*33+31775G>T (n.*33+31775G>T) | COSMIC |
| 12 | g.9089942T>A | CA383844432 | A2M,KLRG1 | c.2678A>T (p.His893Leu) n.257A>T n.421A>T n.348+11608A>T c.2378A>T (p.His793Leu) c.2228A>T (p.His743Leu) c.*33+31776T>A (n.*33+31776T>A) | |
| 12 | g.9089942T>C | CA383844433 | A2M,KLRG1 | c.2678A>G (p.His893Arg) n.257A>G n.421A>G n.348+11608A>G c.2378A>G (p.His793Arg) c.2228A>G (p.His743Arg) c.*33+31776T>C (n.*33+31776T>C) | |
| 12 | g.9089942T>G | CA383844435 | A2M,KLRG1 | c.2678A>C (p.His893Pro) n.257A>C n.421A>C n.348+11608A>C c.2378A>C (p.His793Pro) c.2228A>C (p.His743Pro) c.*33+31776T>G (n.*33+31776T>G) | |
| 12 | g.9089943G>A | CA383844438 | A2M,KLRG1 | c.2677C>T (p.His893Tyr) n.256C>T n.420C>T n.348+11607C>T c.2377C>T (p.His793Tyr) c.2227C>T (p.His743Tyr) c.*33+31777G>A (n.*33+31777G>A) | |
| 12 | g.9089943G>C | CA383844439 | A2M,KLRG1 | c.2677C>G (p.His893Asp) n.256C>G n.420C>G n.348+11607C>G c.2377C>G (p.His793Asp) c.2227C>G (p.His743Asp) c.*33+31777G>C (n.*33+31777G>C) | |
| 12 | g.9089943G>T | CA383844440 | A2M,KLRG1 | c.2677C>A (p.His893Asn) n.256C>A n.420C>A n.348+11607C>A c.2377C>A (p.His793Asn) c.2227C>A (p.His743Asn) c.*33+31777G>T (n.*33+31777G>T) | |
| 12 | g.9089944T>A | CA383844441 | A2M,KLRG1 | c.2676A>T (p.Glu892Asp) n.255A>T n.419A>T n.348+11606A>T c.2376A>T (p.Glu792Asp) c.2226A>T (p.Glu742Asp) c.*33+31778T>A (n.*33+31778T>A) | |
| 12 | g.9089944T>C | CA478327443 | A2M,KLRG1 | c.2676A>G (p.Glu892=) n.255A>G n.419A>G n.348+11606A>G c.2376A>G (p.Glu792=) c.2226A>G (p.Glu742=) c.*33+31778T>C (n.*33+31778T>C) | gnomAD v4 |
| 12 | g.9089944T>G | CA383844442 | A2M,KLRG1 | c.2676A>C (p.Glu892Asp) n.255A>C n.419A>C n.348+11606A>C c.2376A>C (p.Glu792Asp) c.2226A>C (p.Glu742Asp) c.*33+31778T>G (n.*33+31778T>G) | |
| 12 | g.9089945T>A | CA383844444 | A2M,KLRG1 | c.2675A>T (p.Glu892Val) n.254A>T n.418A>T n.348+11605A>T c.2375A>T (p.Glu792Val) c.2225A>T (p.Glu742Val) c.*33+31779T>A (n.*33+31779T>A) | |
| 12 | g.9089945T>C | CA383844445 | A2M,KLRG1 | c.2675A>G (p.Glu892Gly) n.254A>G n.418A>G n.348+11605A>G c.2375A>G (p.Glu792Gly) c.2225A>G (p.Glu742Gly) c.*33+31779T>C (n.*33+31779T>C) | |
| 12 | g.9089945T>G | CA383844443 | A2M,KLRG1 | c.2675A>C (p.Glu892Ala) n.254A>C n.418A>C n.348+11605A>C c.2375A>C (p.Glu792Ala) c.2225A>C (p.Glu742Ala) c.*33+31779T>G (n.*33+31779T>G) | |
| 12 | g.9089946C>A | CA383844446 | A2M,KLRG1 | c.2674G>T (p.Glu892Ter) n.253G>T n.417G>T n.348+11604G>T c.2374G>T (p.Glu792Ter) c.2224G>T (p.Glu742Ter) c.*33+31780C>A (n.*33+31780C>A) | |
| 12 | g.9089946C>G | CA383844447 | A2M,KLRG1 | c.2674G>C (p.Glu892Gln) n.253G>C n.417G>C n.348+11604G>C c.2374G>C (p.Glu792Gln) c.2224G>C (p.Glu742Gln) c.*33+31780C>G (n.*33+31780C>G) | |
| 12 | g.9089946C>T | CA383844448 | A2M,KLRG1 | c.2674G>A (p.Glu892Lys) n.253G>A n.417G>A n.348+11604G>A c.2374G>A (p.Glu792Lys) c.2224G>A (p.Glu742Lys) c.*33+31780C>T (n.*33+31780C>T) | |
| 12 | g.9089947A= | CA2015337187 | A2M,KLRG1 | c.2673T= (p.Pro891=) n.252T= n.416T= n.348+11603T= c.2373T= (p.Pro791=) c.2223T= (p.Pro741=) c.*33+31781A= (n.*33+31781A=) | |
| 12 | g.9089947A>C | CA478327455 | A2M,KLRG1 | c.2673T>G (p.Pro891=) n.252T>G n.416T>G n.348+11603T>G c.2373T>G (p.Pro791=) c.2223T>G (p.Pro741=) c.*33+31781A>C (n.*33+31781A>C) | |
| 12 | g.9089947A>G | CA478327457 | A2M,KLRG1 | c.2673T>C (p.Pro891=) n.252T>C n.416T>C n.348+11603T>C c.2373T>C (p.Pro791=) c.2223T>C (p.Pro741=) c.*33+31781A>G (n.*33+31781A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.9089947A>T | CA478327459 | A2M,KLRG1 | c.2673T>A (p.Pro891=) n.252T>A n.416T>A n.348+11603T>A c.2373T>A (p.Pro791=) c.2223T>A (p.Pro741=) c.*33+31781A>T (n.*33+31781A>T) | |
| 12 | g.9089948G>A | CA383844449 | A2M,KLRG1 | c.2672C>T (p.Pro891Leu) n.251C>T n.415C>T n.348+11602C>T c.2372C>T (p.Pro791Leu) c.2222C>T (p.Pro741Leu) c.*33+31782G>A (n.*33+31782G>A) | |
| 12 | g.9089948G>C | CA383844450 | A2M,KLRG1 | c.2672C>G (p.Pro891Arg) n.251C>G n.415C>G n.348+11602C>G c.2372C>G (p.Pro791Arg) c.2222C>G (p.Pro741Arg) c.*33+31782G>C (n.*33+31782G>C) | |
| 12 | g.9089948G>T | CA383844451 | A2M,KLRG1 | c.2672C>A (p.Pro891His) n.251C>A n.415C>A n.348+11602C>A c.2372C>A (p.Pro791His) c.2222C>A (p.Pro741His) c.*33+31782G>T (n.*33+31782G>T) | |
| 12 | g.9089949G>A | CA383844454 | A2M,KLRG1 | c.2671C>T (p.Pro891Ser) n.250C>T n.414C>T n.348+11601C>T c.2371C>T (p.Pro791Ser) c.2221C>T (p.Pro741Ser) c.*33+31783G>A (n.*33+31783G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.9089949G>C | CA383844453 | A2M,KLRG1 | c.2671C>G (p.Pro891Ala) n.250C>G n.414C>G n.348+11601C>G c.2371C>G (p.Pro791Ala) c.2221C>G (p.Pro741Ala) c.*33+31783G>C (n.*33+31783G>C) | COSMIC |
| 12 | g.9089949G= | CA2015337188 | A2M,KLRG1 | c.2671C= (p.Pro891=) n.250C= n.414C= n.348+11601C= c.2371C= (p.Pro791=) c.2221C= (p.Pro741=) c.*33+31783G= (n.*33+31783G=) | |
| 12 | g.9089949G>T | CA383844452 | A2M,KLRG1 | c.2671C>A (p.Pro891Thr) n.250C>A n.414C>A n.348+11601C>A c.2371C>A (p.Pro791Thr) c.2221C>A (p.Pro741Thr) c.*33+31783G>T (n.*33+31783G>T) | |
| 12 | g.9089950A>C | CA478327471 | A2M,KLRG1 | c.2670T>G (p.Val890=) n.249T>G n.413T>G n.348+11600T>G c.2370T>G (p.Val790=) c.2220T>G (p.Val740=) c.*33+31784A>C (n.*33+31784A>C) | |
| 12 | g.9089950A>G | CA478327473 | A2M,KLRG1 | c.2670T>C (p.Val890=) n.249T>C n.413T>C n.348+11600T>C c.2370T>C (p.Val790=) c.2220T>C (p.Val740=) c.*33+31784A>G (n.*33+31784A>G) | |
| 12 | g.9089950A>T | CA478327475 | A2M,KLRG1 | c.2670T>A (p.Val890=) n.249T>A n.413T>A n.348+11600T>A c.2370T>A (p.Val790=) c.2220T>A (p.Val740=) c.*33+31784A>T (n.*33+31784A>T) | |
| 12 | g.9089951A>C | CA383844455 | A2M,KLRG1 | c.2669T>G (p.Val890Gly) n.248T>G n.412T>G n.348+11599T>G c.2369T>G (p.Val790Gly) c.2219T>G (p.Val740Gly) c.*33+31785A>C (n.*33+31785A>C) | |
| 12 | g.9089951A>G | CA383844456 | A2M,KLRG1 | c.2669T>C (p.Val890Ala) n.248T>C n.412T>C n.348+11599T>C c.2369T>C (p.Val790Ala) c.2219T>C (p.Val740Ala) c.*33+31785A>G (n.*33+31785A>G) | |
| 12 | g.9089951A>T | CA383844457 | A2M,KLRG1 | c.2669T>A (p.Val890Asp) n.248T>A n.412T>A n.348+11599T>A c.2369T>A (p.Val790Asp) c.2219T>A (p.Val740Asp) c.*33+31785A>T (n.*33+31785A>T) | |
| 12 | g.9089952C>A | CA383844458 | A2M,KLRG1 | c.2668G>T (p.Val890Phe) n.247G>T n.411G>T n.348+11598G>T c.2368G>T (p.Val790Phe) c.2218G>T (p.Val740Phe) c.*33+31786C>A (n.*33+31786C>A) | |
| 12 | g.9089952C= | CA2015337189 | A2M,KLRG1 | c.2668G= (p.Val890=) n.247G= n.411G= n.348+11598G= c.2368G= (p.Val790=) c.2218G= (p.Val740=) c.*33+31786C= (n.*33+31786C=) | |
| 12 | g.9089952C>G | CA383844459 | A2M,KLRG1 | c.2668G>C (p.Val890Leu) n.247G>C n.411G>C n.348+11598G>C c.2368G>C (p.Val790Leu) c.2218G>C (p.Val740Leu) c.*33+31786C>G (n.*33+31786C>G) |