UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149978165G>A | CA3505266 | SLC26A2 | n.745G>A c.513G>A (p.Met171Ile) c.186G>A (p.Met62Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149978165G>C | CA361705145 | SLC26A2 | n.745G>C c.513G>C (p.Met171Ile) c.186G>C (p.Met62Ile) | gnomAD v4 |
| 5 | g.149978165G= | CA1590737435 | SLC26A2 | n.745G= c.513G= (p.Met171=) c.186G= (p.Met62=) | |
| 5 | g.149978165G>T | CA361705146 | SLC26A2 | n.745G>T c.513G>T (p.Met171Ile) c.186G>T (p.Met62Ile) | |
| 5 | g.149978166A>C | CA361705147 | SLC26A2 | n.746A>C c.514A>C (p.Ile172Leu) c.187A>C (p.Ile63Leu) | |
| 5 | g.149978166A>G | CA361705148 | SLC26A2 | n.746A>G c.514A>G (p.Ile172Val) c.187A>G (p.Ile63Val) | |
| 5 | g.149978166A>T | CA361705149 | SLC26A2 | n.746A>T c.514A>T (p.Ile172Phe) c.187A>T (p.Ile63Phe) | gnomAD v4 |
| 5 | g.149978167T>A | CA361705150 | SLC26A2 | n.747T>A c.515T>A (p.Ile172Asn) c.188T>A (p.Ile63Asn) | |
| 5 | g.149978167T>C | CA3505267 | SLC26A2 | n.747T>C c.515T>C (p.Ile172Thr) c.188T>C (p.Ile63Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978167T>G | CA361705151 | SLC26A2 | n.747T>G c.515T>G (p.Ile172Ser) c.188T>G (p.Ile63Ser) | |
| 5 | g.149978167T= | CA1590737436 | SLC26A2 | n.747T= c.515T= (p.Ile172=) c.188T= (p.Ile63=) | |
| 5 | g.149978168T>A | CA447402043 | SLC26A2 | n.748T>A c.516T>A (p.Ile172=) c.189T>A (p.Ile63=) | |
| 5 | g.149978168T>C | CA447402044 | SLC26A2 | n.748T>C c.516T>C (p.Ile172=) c.189T>C (p.Ile63=) | |
| 5 | g.149978168T>G | CA361705152 | SLC26A2 | n.748T>G c.516T>G (p.Ile172Met) c.189T>G (p.Ile63Met) | |
| 5 | g.149978169G>A | CA361705155 | SLC26A2 | n.749G>A c.517G>A (p.Gly173Ser) c.190G>A (p.Gly64Ser) | |
| 5 | g.149978169G>C | CA361705154 | SLC26A2 | n.749G>C c.517G>C (p.Gly173Arg) c.190G>C (p.Gly64Arg) | |
| 5 | g.149978169G>T | CA361705153 | SLC26A2 | n.749G>T c.517G>T (p.Gly173Cys) c.190G>T (p.Gly64Cys) | |
| 5 | g.149978170G>A | CA361705156 | SLC26A2 | n.750G>A c.518G>A (p.Gly173Asp) c.191G>A (p.Gly64Asp) | |
| 5 | g.149978170G>C | CA361705157 | SLC26A2 | n.750G>C c.518G>C (p.Gly173Ala) c.191G>C (p.Gly64Ala) | |
| 5 | g.149978170G>T | CA361705158 | SLC26A2 | n.750G>T c.518G>T (p.Gly173Val) c.191G>T (p.Gly64Val) | |
| 5 | g.149978171T>A | CA447402045 | SLC26A2 | n.751T>A c.519T>A (p.Gly173=) c.192T>A (p.Gly64=) | |
| 5 | g.149978171T>C | CA447402046 | SLC26A2 | n.751T>C c.519T>C (p.Gly173=) c.192T>C (p.Gly64=) | |
| 5 | g.149978171T>G | CA447402047 | SLC26A2 | n.751T>G c.519T>G (p.Gly173=) c.192T>G (p.Gly64=) | |
| 5 | g.149978172G>A | CA361705159 | SLC26A2 | n.752G>A c.520G>A (p.Glu174Lys) c.193G>A (p.Glu65Lys) | gnomAD v4 |
| 5 | g.149978172G>C | CA361705160 | SLC26A2 | n.752G>C c.520G>C (p.Glu174Gln) c.193G>C (p.Glu65Gln) | |
| 5 | g.149978172G>T | CA361705161 | SLC26A2 | n.752G>T c.520G>T (p.Glu174Ter) c.193G>T (p.Glu65Ter) | |
| 5 | g.149978173A>C | CA361705162 | SLC26A2 | n.753A>C c.521A>C (p.Glu174Ala) c.194A>C (p.Glu65Ala) | |
| 5 | g.149978173A>G | CA361705163 | SLC26A2 | n.753A>G c.521A>G (p.Glu174Gly) c.194A>G (p.Glu65Gly) | |
| 5 | g.149978173A>T | CA361705164 | SLC26A2 | n.753A>T c.521A>T (p.Glu174Val) c.194A>T (p.Glu65Val) | |
| 5 | g.149978174G>A | CA129082620 | SLC26A2 | n.754G>A c.522G>A (p.Glu174=) c.195G>A (p.Glu65=) | dbSNP |
| 5 | g.149978174G>C | CA361705165 | SLC26A2 | n.754G>C c.522G>C (p.Glu174Asp) c.195G>C (p.Glu65Asp) | |
| 5 | g.149978174G= | CA1590737437 | SLC26A2 | n.754G= c.522G= (p.Glu174=) c.195G= (p.Glu65=) | |
| 5 | g.149978174G>T | CA361705166 | SLC26A2 | n.754G>T c.522G>T (p.Glu174Asp) c.195G>T (p.Glu65Asp) | |
| 5 | g.149978175A>C | CA361705167 | SLC26A2 | n.755A>C c.523A>C (p.Thr175Pro) c.196A>C (p.Thr66Pro) | |
| 5 | g.149978175A>G | CA361705168 | SLC26A2 | n.755A>G c.523A>G (p.Thr175Ala) c.196A>G (p.Thr66Ala) | |
| 5 | g.149978175A>T | CA361705169 | SLC26A2 | n.755A>T c.523A>T (p.Thr175Ser) c.196A>T (p.Thr66Ser) | |
| 5 | g.149978176C>A | CA361705171 | SLC26A2 | n.756C>A c.524C>A (p.Thr175Lys) c.197C>A (p.Thr66Lys) | gnomAD v4 |
| 5 | g.149978176C= | CA1590737438 | SLC26A2 | n.756C= c.524C= (p.Thr175=) c.197C= (p.Thr66=) | |
| 5 | g.149978176C>G | CA361705172 | SLC26A2 | n.756C>G c.524C>G (p.Thr175Arg) c.197C>G (p.Thr66Arg) | dbSNP |
| 5 | g.149978176C>T | CA361705170 | SLC26A2 | n.756C>T c.524C>T (p.Thr175Ile) c.197C>T (p.Thr66Ile) | |
| 5 | g.149978177A= | CA1590737439 | SLC26A2 | n.757A= c.525A= (p.Thr175=) c.198A= (p.Thr66=) | |
| 5 | g.149978177A>C | CA447402048 | SLC26A2 | n.757A>C c.525A>C (p.Thr175=) c.198A>C (p.Thr66=) | |
| 5 | g.149978177A>G | CA447402049 | SLC26A2 | n.757A>G c.525A>G (p.Thr175=) c.198A>G (p.Thr66=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149978177A>T | CA447402050 | SLC26A2 | n.757A>T c.525A>T (p.Thr175=) c.198A>T (p.Thr66=) | |
| 5 | g.149978178G>A | CA361705173 | SLC26A2 | n.758G>A c.526G>A (p.Val176Ile) c.199G>A (p.Val67Ile) | |
| 5 | g.149978178G>C | CA361705174 | SLC26A2 | n.758G>C c.526G>C (p.Val176Leu) c.199G>C (p.Val67Leu) | |
| 5 | g.149978178G>T | CA361705175 | SLC26A2 | n.758G>T c.526G>T (p.Val176Phe) c.199G>T (p.Val67Phe) | |
| 5 | g.149978179T>A | CA361705176 | SLC26A2 | n.759T>A c.527T>A (p.Val176Asp) c.200T>A (p.Val67Asp) | |
| 5 | g.149978179T>C | CA361705177 | SLC26A2 | n.759T>C c.527T>C (p.Val176Ala) c.200T>C (p.Val67Ala) | |
| 5 | g.149978179T>G | CA361705178 | SLC26A2 | n.759T>G c.527T>G (p.Val176Gly) c.200T>G (p.Val67Gly) |