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 |
|---|---|---|---|---|---|
| 1 | g.99910775A= | CA1141598856 | AGL | c.3764A= (p.Asn1255=) n.3975A= c.3716A= (p.Asn1239=) c.3713A= (p.Asn1238=) c.2024A= (p.Asn675=) | |
| 1 | g.99910775A>C | CA967211 | AGL | c.3764A>C (p.Asn1255Thr) n.3975A>C c.3716A>C (p.Asn1239Thr) c.3713A>C (p.Asn1238Thr) c.2024A>C (p.Asn675Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.99910775A>G | CA967210 | AGL | c.3764A>G (p.Asn1255Ser) n.3975A>G c.3716A>G (p.Asn1239Ser) c.3713A>G (p.Asn1238Ser) c.2024A>G (p.Asn675Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910775A>T | CA341337707 | AGL | c.3764A>T (p.Asn1255Ile) n.3975A>T c.3716A>T (p.Asn1239Ile) c.3713A>T (p.Asn1238Ile) c.2024A>T (p.Asn675Ile) | |
| 1 | g.99910776T>A | CA341337708 | AGL | c.3765T>A (p.Asn1255Lys) n.3976T>A c.3717T>A (p.Asn1239Lys) c.3714T>A (p.Asn1238Lys) c.2025T>A (p.Asn675Lys) | |
| 1 | g.99910776T>C | CA419091237 | AGL | c.3765T>C (p.Asn1255=) n.3976T>C c.3717T>C (p.Asn1239=) c.3714T>C (p.Asn1238=) c.2025T>C (p.Asn675=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910776T>G | CA341337710 | AGL | c.3765T>G (p.Asn1255Lys) n.3976T>G c.3717T>G (p.Asn1239Lys) c.3714T>G (p.Asn1238Lys) c.2025T>G (p.Asn675Lys) | |
| 1 | g.99910776T= | CA1183941665 | AGL | c.3765T= (p.Asn1255=) n.3976T= c.3717T= (p.Asn1239=) c.3714T= (p.Asn1238=) c.2025T= (p.Asn675=) | |
| 1 | g.99910777T>A | CA341337712 | AGL | c.3766T>A (p.Cys1256Ser) n.3977T>A c.3718T>A (p.Cys1240Ser) c.3715T>A (p.Cys1239Ser) c.2026T>A (p.Cys676Ser) | |
| 1 | g.99910777T>C | CA341337716 | AGL | c.3766T>C (p.Cys1256Arg) n.3977T>C c.3718T>C (p.Cys1240Arg) c.3715T>C (p.Cys1239Arg) c.2026T>C (p.Cys676Arg) | dbSNP |
| 1 | g.99910777T>G | CA341337718 | AGL | c.3766T>G (p.Cys1256Gly) n.3977T>G c.3718T>G (p.Cys1240Gly) c.3715T>G (p.Cys1239Gly) c.2026T>G (p.Cys676Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910777T= | CA1183941667 | AGL | c.3766T= (p.Cys1256=) n.3977T= c.3718T= (p.Cys1240=) c.3715T= (p.Cys1239=) c.2026T= (p.Cys676=) | |
| 1 | g.99910778G>A | CA341337723 | AGL | c.3767G>A (p.Cys1256Tyr) n.3978G>A c.3719G>A (p.Cys1240Tyr) c.3716G>A (p.Cys1239Tyr) c.2027G>A (p.Cys676Tyr) | |
| 1 | g.99910778G>C | CA341337725 | AGL | c.3767G>C (p.Cys1256Ser) n.3978G>C c.3719G>C (p.Cys1240Ser) c.3716G>C (p.Cys1239Ser) c.2027G>C (p.Cys676Ser) | |
| 1 | g.99910778G>T | CA341337727 | AGL | c.3767G>T (p.Cys1256Phe) n.3978G>T c.3719G>T (p.Cys1240Phe) c.3716G>T (p.Cys1239Phe) c.2027G>T (p.Cys676Phe) | ClinVar gnomAD v4 |
| 1 | g.99910779T>A | CA341337728 | AGL | c.3768T>A (p.Cys1256Ter) n.3979T>A c.3720T>A (p.Cys1240Ter) c.3717T>A (p.Cys1239Ter) c.2028T>A (p.Cys676Ter) | |
| 1 | g.99910779T>C | CA419091250 | AGL | c.3768T>C (p.Cys1256=) n.3979T>C c.3720T>C (p.Cys1240=) c.3717T>C (p.Cys1239=) c.2028T>C (p.Cys676=) | |
| 1 | g.99910779T>G | CA341337730 | AGL | c.3768T>G (p.Cys1256Trp) n.3979T>G c.3720T>G (p.Cys1240Trp) c.3717T>G (p.Cys1239Trp) c.2028T>G (p.Cys676Trp) | |
| 1 | g.99910780G>A | CA341337734 | AGL | c.3769G>A (p.Gly1257Ser) n.3980G>A c.3721G>A (p.Gly1241Ser) c.3718G>A (p.Gly1240Ser) c.2029G>A (p.Gly677Ser) | |
| 1 | g.99910780G>C | CA341337751 | AGL | c.3769G>C (p.Gly1257Arg) n.3980G>C c.3721G>C (p.Gly1241Arg) c.3718G>C (p.Gly1240Arg) c.2029G>C (p.Gly677Arg) | |
| 1 | g.99910780G>T | CA341337742 | AGL | c.3769G>T (p.Gly1257Cys) n.3980G>T c.3721G>T (p.Gly1241Cys) c.3718G>T (p.Gly1240Cys) c.2029G>T (p.Gly677Cys) | |
| 1 | g.99910781G>A | CA341337753 | AGL | c.3770G>A (p.Gly1257Asp) n.3981G>A c.3722G>A (p.Gly1241Asp) c.3719G>A (p.Gly1240Asp) c.2030G>A (p.Gly677Asp) | gnomAD v4 |
| 1 | g.99910781G>C | CA341337758 | AGL | c.3770G>C (p.Gly1257Ala) n.3981G>C c.3722G>C (p.Gly1241Ala) c.3719G>C (p.Gly1240Ala) c.2030G>C (p.Gly677Ala) | |
| 1 | g.99910781G>T | CA341337757 | AGL | c.3770G>T (p.Gly1257Val) n.3981G>T c.3722G>T (p.Gly1241Val) c.3719G>T (p.Gly1240Val) c.2030G>T (p.Gly677Val) | |
| 1 | g.99910782del | CA2580063368 | AGL | c.3771del (p.Thr1258HisfsTer?) n.3982del c.3723del (p.Thr1242HisfsTer?) c.3720del (p.Thr1241HisfsTer?) c.2031del (p.Thr678HisfsTer?) | ClinVar |
| 1 | g.99910782C>A | CA419091262 | AGL | c.3771C>A (p.Gly1257=) n.3982C>A c.3723C>A (p.Gly1241=) c.3720C>A (p.Gly1240=) c.2031C>A (p.Gly677=) | |
| 1 | g.99910782C= | CA1183941668 | AGL | c.3771C= (p.Gly1257=) n.3982C= c.3723C= (p.Gly1241=) c.3720C= (p.Gly1240=) c.2031C= (p.Gly677=) | |
| 1 | g.99910782C>G | CA419091263 | AGL | c.3771C>G (p.Gly1257=) n.3982C>G c.3723C>G (p.Gly1241=) c.3720C>G (p.Gly1240=) c.2031C>G (p.Gly677=) | |
| 1 | g.99910782C>T | CA967212 | AGL | c.3771C>T (p.Gly1257=) n.3982C>T c.3723C>T (p.Gly1241=) c.3720C>T (p.Gly1240=) c.2031C>T (p.Gly677=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.99910783A>C | CA341337760 | AGL | c.3772A>C (p.Thr1258Pro) n.3983A>C c.3724A>C (p.Thr1242Pro) c.3721A>C (p.Thr1241Pro) c.2032A>C (p.Thr678Pro) | |
| 1 | g.99910783A>G | CA341337762 | AGL | c.3772A>G (p.Thr1258Ala) n.3983A>G c.3724A>G (p.Thr1242Ala) c.3721A>G (p.Thr1241Ala) c.2032A>G (p.Thr678Ala) | |
| 1 | g.99910783A>T | CA341337764 | AGL | c.3772A>T (p.Thr1258Ser) n.3983A>T c.3724A>T (p.Thr1242Ser) c.3721A>T (p.Thr1241Ser) c.2032A>T (p.Thr678Ser) | |
| 1 | g.99910783_99910787del | CA2499214927 | AGL | c.3772_3776del (p.Thr1258AspfsTer3) n.3983_3987del c.3724_3728del (p.Thr1242AspfsTer3) c.3721_3725del (p.Thr1241AspfsTer3) c.2032_2036del (p.Thr678AspfsTer3) | ClinVar dbSNP |
| 1 | g.99910784C>A | CA341337766 | AGL | c.3773C>A (p.Thr1258Lys) n.3984C>A c.3725C>A (p.Thr1242Lys) c.3722C>A (p.Thr1241Lys) c.2033C>A (p.Thr678Lys) | |
| 1 | g.99910784C>G | CA341337769 | AGL | c.3773C>G (p.Thr1258Arg) n.3984C>G c.3725C>G (p.Thr1242Arg) c.3722C>G (p.Thr1241Arg) c.2033C>G (p.Thr678Arg) | |
| 1 | g.99910784C>T | CA341337770 | AGL | c.3773C>T (p.Thr1258Ile) n.3984C>T c.3725C>T (p.Thr1242Ile) c.3722C>T (p.Thr1241Ile) c.2033C>T (p.Thr678Ile) | |
| 1 | g.99910785A= | CA1143660614 | AGL | c.3774A= (p.Thr1258=) n.3985A= c.3726A= (p.Thr1242=) c.3723A= (p.Thr1241=) c.2034A= (p.Thr678=) | |
| 1 | g.99910785A>C | CA419091276 | AGL | c.3774A>C (p.Thr1258=) n.3985A>C c.3726A>C (p.Thr1242=) c.3723A>C (p.Thr1241=) c.2034A>C (p.Thr678=) | dbSNP |
| 1 | g.99910785A>G | CA27553531 | AGL | c.3774A>G (p.Thr1258=) n.3985A>G c.3726A>G (p.Thr1242=) c.3723A>G (p.Thr1241=) c.2034A>G (p.Thr678=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.99910785A>T | CA419091280 | AGL | c.3774A>T (p.Thr1258=) n.3985A>T c.3726A>T (p.Thr1242=) c.3723A>T (p.Thr1241=) c.2034A>T (p.Thr678=) | |
| 1 | g.99910786T>A | CA341337777 | AGL | c.3775T>A (p.Trp1259Arg) n.3986T>A c.3727T>A (p.Trp1243Arg) c.3724T>A (p.Trp1242Arg) c.2035T>A (p.Trp679Arg) | |
| 1 | g.99910786T>C | CA341337778 | AGL | c.3775T>C (p.Trp1259Arg) n.3986T>C c.3727T>C (p.Trp1243Arg) c.3724T>C (p.Trp1242Arg) c.2035T>C (p.Trp679Arg) | |
| 1 | g.99910786T>G | CA341337779 | AGL | c.3775T>G (p.Trp1259Gly) n.3986T>G c.3727T>G (p.Trp1243Gly) c.3724T>G (p.Trp1242Gly) c.2035T>G (p.Trp679Gly) | |
| 1 | g.99910787G>A | CA341337780 | AGL | c.3776G>A (p.Trp1259Ter) n.3987G>A c.3728G>A (p.Trp1243Ter) c.3725G>A (p.Trp1242Ter) c.2036G>A (p.Trp679Ter) | |
| 1 | g.99910787G>C | CA341337782 | AGL | c.3776G>C (p.Trp1259Ser) n.3987G>C c.3728G>C (p.Trp1243Ser) c.3725G>C (p.Trp1242Ser) c.2036G>C (p.Trp679Ser) | |
| 1 | g.99910787G>T | CA341337781 | AGL | c.3776G>T (p.Trp1259Leu) n.3987G>T c.3728G>T (p.Trp1243Leu) c.3725G>T (p.Trp1242Leu) c.2036G>T (p.Trp679Leu) | |
| 1 | g.99910788G>A | CA341337784 | AGL | c.3777G>A (p.Trp1259Ter) n.3988G>A c.3729G>A (p.Trp1243Ter) c.3726G>A (p.Trp1242Ter) c.2037G>A (p.Trp679Ter) | |
| 1 | g.99910788G>C | CA341337786 | AGL | c.3777G>C (p.Trp1259Cys) n.3988G>C c.3729G>C (p.Trp1243Cys) c.3726G>C (p.Trp1242Cys) c.2037G>C (p.Trp679Cys) | dbSNP |
| 1 | g.99910788G= | CA1183941669 | AGL | c.3777G= (p.Trp1259=) n.3988G= c.3729G= (p.Trp1243=) c.3726G= (p.Trp1242=) c.2037G= (p.Trp679=) | |
| 1 | g.99910788G>T | CA341337789 | AGL | c.3777G>T (p.Trp1259Cys) n.3988G>T c.3729G>T (p.Trp1243Cys) c.3726G>T (p.Trp1242Cys) c.2037G>T (p.Trp679Cys) |