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 |
|---|---|---|---|---|---|
| 3 | g.179199056A>C | CA437315974 | PIK3CA | c.231A>C (p.Ala77=) n.3038A>C | |
| 3 | g.179199056A>G | CA437315978 | PIK3CA | c.231A>G (p.Ala77=) n.3038A>G | dbSNP |
| 3 | g.179199056A>T | CA437315976 | PIK3CA | c.231A>T (p.Ala77=) n.3038A>T | |
| 3 | g.179199057G>A | CA355272155 | PIK3CA | c.232G>A (p.Glu78Lys) n.3039G>A | |
| 3 | g.179199057G>C | CA355272157 | PIK3CA | c.232G>C (p.Glu78Gln) n.3039G>C | |
| 3 | g.179199057G>T | CA355272162 | PIK3CA | c.232G>T (p.Glu78Ter) n.3039G>T | |
| 3 | g.179199058A>C | CA355272165 | PIK3CA | c.233A>C (p.Glu78Ala) n.3040A>C | |
| 3 | g.179199058A>G | CA355272166 | PIK3CA | c.233A>G (p.Glu78Gly) n.3040A>G | |
| 3 | g.179199058A>T | CA355272173 | PIK3CA | c.233A>T (p.Glu78Val) n.3040A>T | |
| 3 | g.179199059A= | CA1423665251 | PIK3CA | c.234A= (p.Glu78=) n.3041A= | |
| 3 | g.179199059A>C | CA355272175 | PIK3CA | c.234A>C (p.Glu78Asp) n.3041A>C | |
| 3 | g.179199059A>G | CA437315979 | PIK3CA | c.234A>G (p.Glu78=) n.3041A>G | ClinVar dbSNP gnomAD v4 |
| 3 | g.179199059A>T | CA355272176 | PIK3CA | c.234A>T (p.Glu78Asp) n.3041A>T | |
| 3 | g.179199060A>C | CA437315981 | PIK3CA | c.235A>C (p.Arg79=) n.3042A>C | |
| 3 | g.179199060A>G | CA355272178 | PIK3CA | c.235A>G (p.Arg79Gly) n.3042A>G | dbSNP |
| 3 | g.179199060A>T | CA355272181 | PIK3CA | c.235A>T (p.Arg79Trp) n.3042A>T | dbSNP |
| 3 | g.179199061G>A | CA355272183 | PIK3CA | c.236G>A (p.Arg79Lys) n.3043G>A | dbSNP gnomAD v4 |
| 3 | g.179199061G>C | CA355272190 | PIK3CA | c.236G>C (p.Arg79Thr) n.3043G>C | dbSNP |
| 3 | g.179199061G= | CA1423665255 | PIK3CA | c.236G= (p.Arg79=) n.3043G= | |
| 3 | g.179199061G>T | CA355272189 | PIK3CA | c.236G>T (p.Arg79Met) n.3043G>T | dbSNP |
| 3 | g.179199062G>A | CA437315982 | PIK3CA | c.237G>A (p.Arg79=) n.3044G>A | dbSNP gnomAD v4 |
| 3 | g.179199062G>C | CA355272191 | PIK3CA | c.237G>C (p.Arg79Ser) n.3044G>C | dbSNP |
| 3 | g.179199062G>T | CA355272192 | PIK3CA | c.237G>T (p.Arg79Ser) n.3044G>T | dbSNP |
| 3 | g.179199063G>A | CA355272193 | PIK3CA | c.238G>A (p.Glu80Lys) n.3045G>A | dbSNP COSMIC |
| 3 | g.179199063G>C | CA355272197 | PIK3CA | c.238G>C (p.Glu80Gln) n.3045G>C | dbSNP |
| 3 | g.179199063G>T | CA355272194 | PIK3CA | c.238G>T (p.Glu80Ter) n.3045G>T | dbSNP |
| 3 | g.179199064A>C | CA355272199 | PIK3CA | c.239A>C (p.Glu80Ala) n.3046A>C | |
| 3 | g.179199064A>G | CA355272201 | PIK3CA | c.239A>G (p.Glu80Gly) n.3046A>G | dbSNP |
| 3 | g.179199064A>T | CA355272217 | PIK3CA | c.239A>T (p.Glu80Val) n.3046A>T | |
| 3 | g.179199065A= | CA1423665259 | PIK3CA | c.240A= (p.Glu80=) n.3047A= | |
| 3 | g.179199065A>C | CA355272222 | PIK3CA | c.240A>C (p.Glu80Asp) n.3047A>C | |
| 3 | g.179199065A>G | CA437315986 | PIK3CA | c.240A>G (p.Glu80=) n.3047A>G | dbSNP gnomAD v2 |
| 3 | g.179199065A>T | CA355272225 | PIK3CA | c.240A>T (p.Glu80Asp) n.3047A>T | |
| 3 | g.179199066G>A | CA16602912 | PIK3CA | c.241G>A (p.Glu81Lys) n.3048G>A | ClinVar dbSNP COSMIC COSMIC |
| 3 | g.179199066G>C | CA355272229 | PIK3CA | c.241G>C (p.Glu81Gln) n.3048G>C | dbSNP |
| 3 | g.179199066G= | CA1423665264 | PIK3CA | c.241G= (p.Glu81=) n.3048G= | |
| 3 | g.179199066G>T | CA355272230 | PIK3CA | c.241G>T (p.Glu81Ter) n.3048G>T | dbSNP COSMIC COSMIC |
| 3 | g.179199067A>C | CA355272231 | PIK3CA | c.242A>C (p.Glu81Ala) n.3049A>C | dbSNP COSMIC |
| 3 | g.179199067A>G | CA355272232 | PIK3CA | c.242A>G (p.Glu81Gly) n.3049A>G | |
| 3 | g.179199067A>T | CA355272233 | PIK3CA | c.242A>T (p.Glu81Val) n.3049A>T | dbSNP |
| 3 | g.179199068A>C | CA355272234 | PIK3CA | c.243A>C (p.Glu81Asp) n.3050A>C | |
| 3 | g.179199068A>G | CA437315990 | PIK3CA | c.243A>G (p.Glu81=) n.3050A>G | |
| 3 | g.179199068A>T | CA355272237 | PIK3CA | c.243A>T (p.Glu81Asp) n.3050A>T | dbSNP |
| 3 | g.179199068_179199069delinsAT | CA1423665270 | PIK3CA | c.243_244delinsAT (p.Glu81=) n.3050_3051delinsAT | |
| 3 | g.179199069T>A | CA355272242 | PIK3CA | c.244T>A (p.Phe82Ile) n.3051T>A | dbSNP |
| 3 | g.179199069T>C | CA355272247 | PIK3CA | c.244T>C (p.Phe82Leu) n.3051T>C | |
| 3 | g.179199069T>G | CA355272245 | PIK3CA | c.244T>G (p.Phe82Val) n.3051T>G | |
| 3 | g.179199074del | CA88556511 | PIK3CA | c.249del (p.Phe83LeufsTer17) n.3056del | dbSNP COSMIC COSMIC |
| 3 | g.179199070T>A | CA355272252 | PIK3CA | c.245T>A (p.Phe82Tyr) n.3052T>A | |
| 3 | g.179199070T>C | CA355272254 | PIK3CA | c.245T>C (p.Phe82Ser) n.3052T>C |