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.149978153A>C | CA447402034 | SLC26A2 | n.733A>C c.501A>C (p.Val167=) c.174A>C (p.Val58=) | |
| 5 | g.149978153A>G | CA447402035 | SLC26A2 | n.733A>G c.501A>G (p.Val167=) c.174A>G (p.Val58=) | |
| 5 | g.149978153A>T | CA447402033 | SLC26A2 | n.733A>T c.501A>T (p.Val167=) c.174A>T (p.Val58=) | |
| 5 | g.149978154C>A | CA361705121 | SLC26A2 | n.734C>A c.502C>A (p.Leu168Met) c.175C>A (p.Leu59Met) | |
| 5 | g.149978154C= | CA1590737429 | SLC26A2 | n.734C= c.502C= (p.Leu168=) c.175C= (p.Leu59=) | |
| 5 | g.149978154C>G | CA361705122 | SLC26A2 | n.734C>G c.502C>G (p.Leu168Val) c.175C>G (p.Leu59Val) | |
| 5 | g.149978154C>T | CA3505264 | SLC26A2 | n.734C>T c.502C>T (p.Leu168=) c.175C>T (p.Leu59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978155T>A | CA361705124 | SLC26A2 | n.735T>A c.503T>A (p.Leu168Gln) c.176T>A (p.Leu59Gln) | |
| 5 | g.149978155T>C | CA361705125 | SLC26A2 | n.735T>C c.503T>C (p.Leu168Pro) c.176T>C (p.Leu59Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149978155T>G | CA361705123 | SLC26A2 | n.735T>G c.503T>G (p.Leu168Arg) c.176T>G (p.Leu59Arg) | |
| 5 | g.149978155T= | CA1590737430 | SLC26A2 | n.735T= c.503T= (p.Leu168=) c.176T= (p.Leu59=) | |
| 5 | g.149978156G>A | CA447402036 | SLC26A2 | n.736G>A c.504G>A (p.Leu168=) c.177G>A (p.Leu59=) | |
| 5 | g.149978156G>C | CA447402037 | SLC26A2 | n.736G>C c.504G>C (p.Leu168=) c.177G>C (p.Leu59=) | |
| 5 | g.149978156G>T | CA447402038 | SLC26A2 | n.736G>T c.504G>T (p.Leu168=) c.177G>T (p.Leu59=) | |
| 5 | g.149978157T>A | CA361705126 | SLC26A2 | n.737T>A c.505T>A (p.Cys169Ser) c.178T>A (p.Cys60Ser) | |
| 5 | g.149978157T>C | CA361705127 | SLC26A2 | n.737T>C c.505T>C (p.Cys169Arg) c.178T>C (p.Cys60Arg) | dbSNP |
| 5 | g.149978157T>G | CA361705128 | SLC26A2 | n.737T>G c.505T>G (p.Cys169Gly) c.178T>G (p.Cys60Gly) | |
| 5 | g.149978157T= | CA1590737431 | SLC26A2 | n.737T= c.505T= (p.Cys169=) c.178T= (p.Cys60=) | |
| 5 | g.149978158G>A | CA361705129 | SLC26A2 | n.738G>A c.506G>A (p.Cys169Tyr) c.179G>A (p.Cys60Tyr) | |
| 5 | g.149978158G>C | CA361705130 | SLC26A2 | n.738G>C c.506G>C (p.Cys169Ser) c.179G>C (p.Cys60Ser) | |
| 5 | g.149978158G>T | CA361705131 | SLC26A2 | n.738G>T c.506G>T (p.Cys169Phe) c.179G>T (p.Cys60Phe) | COSMIC |
| 5 | g.149978159C>A | CA361705133 | SLC26A2 | n.739C>A c.507C>A (p.Cys169Ter) c.180C>A (p.Cys60Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149978159C= | CA1590737432 | SLC26A2 | n.739C= c.507C= (p.Cys169=) c.180C= (p.Cys60=) | |
| 5 | g.149978159C>G | CA361705132 | SLC26A2 | n.739C>G c.507C>G (p.Cys169Trp) c.180C>G (p.Cys60Trp) | gnomAD v4 |
| 5 | g.149978159C>T | CA447402039 | SLC26A2 | n.739C>T c.507C>T (p.Cys169=) c.180C>T (p.Cys60=) | |
| 5 | g.149978160C>A | CA361705134 | SLC26A2 | n.740C>A c.508C>A (p.Leu170Ile) c.181C>A (p.Leu61Ile) | |
| 5 | g.149978160C= | CA1590737433 | SLC26A2 | n.740C= c.508C= (p.Leu170=) c.181C= (p.Leu61=) | |
| 5 | g.149978160C>G | CA361705135 | SLC26A2 | n.740C>G c.508C>G (p.Leu170Val) c.181C>G (p.Leu61Val) | |
| 5 | g.149978160C>T | CA361705136 | SLC26A2 | n.740C>T c.508C>T (p.Leu170Phe) c.181C>T (p.Leu61Phe) | dbSNP |
| 5 | g.149978161T>A | CA361705137 | SLC26A2 | n.741T>A c.509T>A (p.Leu170His) c.182T>A (p.Leu61His) | |
| 5 | g.149978161T>C | CA361705138 | SLC26A2 | n.741T>C c.509T>C (p.Leu170Pro) c.182T>C (p.Leu61Pro) | |
| 5 | g.149978161T>G | CA361705139 | SLC26A2 | n.741T>G c.509T>G (p.Leu170Arg) c.182T>G (p.Leu61Arg) | |
| 5 | g.149978162T>A | CA447402040 | SLC26A2 | n.742T>A c.510T>A (p.Leu170=) c.183T>A (p.Leu61=) | |
| 5 | g.149978162T>C | CA447402041 | SLC26A2 | n.742T>C c.510T>C (p.Leu170=) c.183T>C (p.Leu61=) | |
| 5 | g.149978162T>G | CA447402042 | SLC26A2 | n.742T>G c.510T>G (p.Leu170=) c.183T>G (p.Leu61=) | |
| 5 | g.149978163A>C | CA361705142 | SLC26A2 | n.743A>C c.511A>C (p.Met171Leu) c.184A>C (p.Met62Leu) | |
| 5 | g.149978163A>G | CA361705141 | SLC26A2 | n.743A>G c.511A>G (p.Met171Val) c.184A>G (p.Met62Val) | gnomAD v4 |
| 5 | g.149978163A>T | CA361705140 | SLC26A2 | n.743A>T c.511A>T (p.Met171Leu) c.184A>T (p.Met62Leu) | |
| 5 | g.149978164T>A | CA361705143 | SLC26A2 | n.744T>A c.512T>A (p.Met171Lys) c.185T>A (p.Met62Lys) | |
| 5 | g.149978164T>C | CA3505265 | SLC26A2 | n.744T>C c.512T>C (p.Met171Thr) c.185T>C (p.Met62Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978164T>G | CA361705144 | SLC26A2 | n.744T>G c.512T>G (p.Met171Arg) c.185T>G (p.Met62Arg) | |
| 5 | g.149978164T= | CA1590737434 | SLC26A2 | n.744T= c.512T= (p.Met171=) c.185T= (p.Met62=) | |
| 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) |