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 |
|---|---|---|---|---|---|
| 13 | g.42606560T>A | CA118571 | TNFSF11 | c.596T>A (p.Met199Lys) c.455T>A (p.Met152Lys) c.377T>A (p.Met126Lys) c.434T>A (p.Met145Lys) | ClinVar dbSNP |
| 13 | g.42606560T>C | CA388221007 | TNFSF11 | c.596T>C (p.Met199Thr) c.455T>C (p.Met152Thr) c.377T>C (p.Met126Thr) c.434T>C (p.Met145Thr) | |
| 13 | g.42606560T>G | CA388221009 | TNFSF11 | c.596T>G (p.Met199Arg) c.455T>G (p.Met152Arg) c.377T>G (p.Met126Arg) c.434T>G (p.Met145Arg) | |
| 13 | g.42606560T= | CA2087395062 | TNFSF11 | c.596T= (p.Met199=) c.455T= (p.Met152=) c.377T= (p.Met126=) c.434T= (p.Met145=) | |
| 13 | g.42606561G>A | CA388221015 | TNFSF11 | c.597G>A (p.Met199Ile) c.456G>A (p.Met152Ile) c.378G>A (p.Met126Ile) c.435G>A (p.Met145Ile) | |
| 13 | g.42606561G>C | CA388221012 | TNFSF11 | c.597G>C (p.Met199Ile) c.456G>C (p.Met152Ile) c.378G>C (p.Met126Ile) c.435G>C (p.Met145Ile) | |
| 13 | g.42606561G>T | CA388221013 | TNFSF11 | c.597G>T (p.Met199Ile) c.456G>T (p.Met152Ile) c.378G>T (p.Met126Ile) c.435G>T (p.Met145Ile) | |
| 13 | g.42606562A>C | CA388221017 | TNFSF11 | c.598A>C (p.Thr200Pro) c.457A>C (p.Thr153Pro) c.379A>C (p.Thr127Pro) c.436A>C (p.Thr146Pro) | |
| 13 | g.42606562A>G | CA388221019 | TNFSF11 | c.598A>G (p.Thr200Ala) c.457A>G (p.Thr153Ala) c.379A>G (p.Thr127Ala) c.436A>G (p.Thr146Ala) | |
| 13 | g.42606562A>T | CA388221021 | TNFSF11 | c.598A>T (p.Thr200Ser) c.457A>T (p.Thr153Ser) c.379A>T (p.Thr127Ser) c.436A>T (p.Thr146Ser) | |
| 13 | g.42606563C>A | CA388221023 | TNFSF11 | c.599C>A (p.Thr200Asn) c.458C>A (p.Thr153Asn) c.380C>A (p.Thr127Asn) c.437C>A (p.Thr146Asn) | |
| 13 | g.42606563C= | CA2087395063 | TNFSF11 | c.599C= (p.Thr200=) c.458C= (p.Thr153=) c.380C= (p.Thr127=) c.437C= (p.Thr146=) | |
| 13 | g.42606563C>G | CA388221026 | TNFSF11 | c.599C>G (p.Thr200Ser) c.458C>G (p.Thr153Ser) c.380C>G (p.Thr127Ser) c.437C>G (p.Thr146Ser) | |
| 13 | g.42606563C>T | CA388221028 | TNFSF11 | c.599C>T (p.Thr200Ile) c.458C>T (p.Thr153Ile) c.380C>T (p.Thr127Ile) c.437C>T (p.Thr146Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.42606564T>A | CA6967275 | TNFSF11 | c.600T>A (p.Thr200=) c.459T>A (p.Thr153=) c.381T>A (p.Thr127=) c.438T>A (p.Thr146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.42606564T>C | CA483605017 | TNFSF11 | c.600T>C (p.Thr200=) c.459T>C (p.Thr153=) c.381T>C (p.Thr127=) c.438T>C (p.Thr146=) | |
| 13 | g.42606564T>G | CA483605018 | TNFSF11 | c.600T>G (p.Thr200=) c.459T>G (p.Thr153=) c.381T>G (p.Thr127=) c.438T>G (p.Thr146=) | |
| 13 | g.42606564T= | CA2087395064 | TNFSF11 | c.600T= (p.Thr200=) c.459T= (p.Thr153=) c.381T= (p.Thr127=) c.438T= (p.Thr146=) | |
| 13 | g.42606566_42606567del | CA2622837735 | TNFSF11 | c.602_603del (p.Phe201Ter) c.461_462del (p.Phe154Ter) c.383_384del (p.Phe128Ter) c.440_441del (p.Phe147Ter) | gnomAD v4 |
| 13 | g.42606565T>A | CA388221032 | TNFSF11 | c.601T>A (p.Phe201Ile) c.460T>A (p.Phe154Ile) c.382T>A (p.Phe128Ile) c.439T>A (p.Phe147Ile) | |
| 13 | g.42606565T>C | CA388221034 | TNFSF11 | c.601T>C (p.Phe201Leu) c.460T>C (p.Phe154Leu) c.382T>C (p.Phe128Leu) c.439T>C (p.Phe147Leu) | |
| 13 | g.42606565T>G | CA388221036 | TNFSF11 | c.601T>G (p.Phe201Val) c.460T>G (p.Phe154Val) c.382T>G (p.Phe128Val) c.439T>G (p.Phe147Val) | |
| 13 | g.42606566T>A | CA388221037 | TNFSF11 | c.602T>A (p.Phe201Tyr) c.461T>A (p.Phe154Tyr) c.383T>A (p.Phe128Tyr) c.440T>A (p.Phe147Tyr) | |
| 13 | g.42606566T>C | CA388221038 | TNFSF11 | c.602T>C (p.Phe201Ser) c.461T>C (p.Phe154Ser) c.383T>C (p.Phe128Ser) c.440T>C (p.Phe147Ser) | |
| 13 | g.42606566T>G | CA388221040 | TNFSF11 | c.602T>G (p.Phe201Cys) c.461T>G (p.Phe154Cys) c.383T>G (p.Phe128Cys) c.440T>G (p.Phe147Cys) | |
| 13 | g.42606567T>A | CA388221042 | TNFSF11 | c.603T>A (p.Phe201Leu) c.462T>A (p.Phe154Leu) c.384T>A (p.Phe128Leu) c.441T>A (p.Phe147Leu) | |
| 13 | g.42606567T>C | CA249053397 | TNFSF11 | c.603T>C (p.Phe201=) c.462T>C (p.Phe154=) c.384T>C (p.Phe128=) c.441T>C (p.Phe147=) | dbSNP gnomAD v4 |
| 13 | g.42606567T>G | CA388221044 | TNFSF11 | c.603T>G (p.Phe201Leu) c.462T>G (p.Phe154Leu) c.384T>G (p.Phe128Leu) c.441T>G (p.Phe147Leu) | |
| 13 | g.42606567T= | CA2087395065 | TNFSF11 | c.603T= (p.Phe201=) c.462T= (p.Phe154=) c.384T= (p.Phe128=) c.441T= (p.Phe147=) | |
| 13 | g.42606568A>C | CA388221047 | TNFSF11 | c.604A>C (p.Ser202Arg) c.463A>C (p.Ser155Arg) c.385A>C (p.Ser129Arg) c.442A>C (p.Ser148Arg) | |
| 13 | g.42606568A>G | CA388221050 | TNFSF11 | c.604A>G (p.Ser202Gly) c.463A>G (p.Ser155Gly) c.385A>G (p.Ser129Gly) c.442A>G (p.Ser148Gly) | |
| 13 | g.42606568A>T | CA388221049 | TNFSF11 | c.604A>T (p.Ser202Cys) c.463A>T (p.Ser155Cys) c.385A>T (p.Ser129Cys) c.442A>T (p.Ser148Cys) | |
| 13 | g.42606569G>A | CA388221053 | TNFSF11 | c.605G>A (p.Ser202Asn) c.464G>A (p.Ser155Asn) c.386G>A (p.Ser129Asn) c.443G>A (p.Ser148Asn) | |
| 13 | g.42606569G>C | CA388221057 | TNFSF11 | c.605G>C (p.Ser202Thr) c.464G>C (p.Ser155Thr) c.386G>C (p.Ser129Thr) c.443G>C (p.Ser148Thr) | |
| 13 | g.42606569G>T | CA388221055 | TNFSF11 | c.605G>T (p.Ser202Ile) c.464G>T (p.Ser155Ile) c.386G>T (p.Ser129Ile) c.443G>T (p.Ser148Ile) | |
| 13 | g.42606570C>A | CA388221060 | TNFSF11 | c.606C>A (p.Ser202Arg) c.465C>A (p.Ser155Arg) c.387C>A (p.Ser129Arg) c.444C>A (p.Ser148Arg) | |
| 13 | g.42606570C= | CA2087395066 | TNFSF11 | c.606C= (p.Ser202=) c.465C= (p.Ser155=) c.387C= (p.Ser129=) c.444C= (p.Ser148=) | |
| 13 | g.42606570C>G | CA388221061 | TNFSF11 | c.606C>G (p.Ser202Arg) c.465C>G (p.Ser155Arg) c.387C>G (p.Ser129Arg) c.444C>G (p.Ser148Arg) | |
| 13 | g.42606570C>T | CA483605019 | TNFSF11 | c.606C>T (p.Ser202=) c.465C>T (p.Ser155=) c.387C>T (p.Ser129=) c.444C>T (p.Ser148=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.42606571A>C | CA388221069 | TNFSF11 | c.607A>C (p.Asn203His) c.466A>C (p.Asn156His) c.388A>C (p.Asn130His) c.445A>C (p.Asn149His) | gnomAD v4 |
| 13 | g.42606571A>G | CA388221071 | TNFSF11 | c.607A>G (p.Asn203Asp) c.466A>G (p.Asn156Asp) c.388A>G (p.Asn130Asp) c.445A>G (p.Asn149Asp) | |
| 13 | g.42606571A>T | CA388221072 | TNFSF11 | c.607A>T (p.Asn203Tyr) c.466A>T (p.Asn156Tyr) c.388A>T (p.Asn130Tyr) c.445A>T (p.Asn149Tyr) | |
| 13 | g.42606572A= | CA2087395067 | TNFSF11 | c.608A= (p.Asn203=) c.467A= (p.Asn156=) c.389A= (p.Asn130=) c.446A= (p.Asn149=) | |
| 13 | g.42606572A>C | CA388221075 | TNFSF11 | c.608A>C (p.Asn203Thr) c.467A>C (p.Asn156Thr) c.389A>C (p.Asn130Thr) c.446A>C (p.Asn149Thr) | |
| 13 | g.42606572A>G | CA6967276 | TNFSF11 | c.608A>G (p.Asn203Ser) c.467A>G (p.Asn156Ser) c.389A>G (p.Asn130Ser) c.446A>G (p.Asn149Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.42606572A>T | CA388221077 | TNFSF11 | c.608A>T (p.Asn203Ile) c.467A>T (p.Asn156Ile) c.389A>T (p.Asn130Ile) c.446A>T (p.Asn149Ile) | |
| 13 | g.42606573T>A | CA388221080 | TNFSF11 | c.609T>A (p.Asn203Lys) c.468T>A (p.Asn156Lys) c.390T>A (p.Asn130Lys) c.447T>A (p.Asn149Lys) | |
| 13 | g.42606573T>C | CA483605020 | TNFSF11 | c.609T>C (p.Asn203=) c.468T>C (p.Asn156=) c.390T>C (p.Asn130=) c.447T>C (p.Asn149=) | |
| 13 | g.42606573T>G | CA388221082 | TNFSF11 | c.609T>G (p.Asn203Lys) c.468T>G (p.Asn156Lys) c.390T>G (p.Asn130Lys) c.447T>G (p.Asn149Lys) | |
| 13 | g.42606574G>A | CA388221085 | TNFSF11 | c.610G>A (p.Gly204Arg) c.469G>A (p.Gly157Arg) c.391G>A (p.Gly131Arg) c.448G>A (p.Gly150Arg) |