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.149978200_149978296dup | CA2768879950 | SLC26A2 | n.780_876dup c.548_644dup (p.Cys216TrpfsTer3) c.221_317dup (p.Cys107TrpfsTer3) | |
| 5 | g.149978257C>A | CA361705342 | SLC26A2 | n.837C>A c.605C>A (p.Thr202Lys) c.278C>A (p.Thr93Lys) | |
| 5 | g.149978257C>G | CA361705343 | SLC26A2 | n.837C>G c.605C>G (p.Thr202Arg) c.278C>G (p.Thr93Arg) | |
| 5 | g.149978257C>T | CA361705344 | SLC26A2 | n.837C>T c.605C>T (p.Thr202Ile) c.278C>T (p.Thr93Ile) | dbSNP |
| 5 | g.149978258A= | CA1590737476 | SLC26A2 | n.838A= c.606A= (p.Thr202=) c.279A= (p.Thr93=) | |
| 5 | g.149978258A>C | CA447402158 | SLC26A2 | n.838A>C c.606A>C (p.Thr202=) c.279A>C (p.Thr93=) | |
| 5 | g.149978258A>G | CA447402160 | SLC26A2 | n.838A>G c.606A>G (p.Thr202=) c.279A>G (p.Thr93=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978258A>T | CA447402162 | SLC26A2 | n.838A>T c.606A>T (p.Thr202=) c.279A>T (p.Thr93=) | |
| 5 | g.149978259T>A | CA361705345 | SLC26A2 | n.839T>A c.607T>A (p.Leu203Ile) c.280T>A (p.Leu94Ile) | |
| 5 | g.149978259T>C | CA447402163 | SLC26A2 | n.839T>C c.607T>C (p.Leu203=) c.280T>C (p.Leu94=) | |
| 5 | g.149978259T>G | CA361705346 | SLC26A2 | n.839T>G c.607T>G (p.Leu203Val) c.280T>G (p.Leu94Val) | |
| 5 | g.149978260T>A | CA361705348 | SLC26A2 | n.840T>A c.608T>A (p.Leu203Ter) c.281T>A (p.Leu94Ter) | |
| 5 | g.149978260T>C | CA361705349 | SLC26A2 | n.840T>C c.608T>C (p.Leu203Ser) c.281T>C (p.Leu94Ser) | gnomAD v4 |
| 5 | g.149978260T>G | CA361705347 | SLC26A2 | n.840T>G c.608T>G (p.Leu203Ter) c.281T>G (p.Leu94Ter) | |
| 5 | g.149978261A>C | CA361705350 | SLC26A2 | n.841A>C c.609A>C (p.Leu203Phe) c.282A>C (p.Leu94Phe) | |
| 5 | g.149978261A>G | CA447402167 | SLC26A2 | n.841A>G c.609A>G (p.Leu203=) c.282A>G (p.Leu94=) | |
| 5 | g.149978261A>T | CA361705351 | SLC26A2 | n.841A>T c.609A>T (p.Leu203Phe) c.282A>T (p.Leu94Phe) | |
| 5 | g.149978262T>A | CA361705352 | SLC26A2 | n.842T>A c.610T>A (p.Leu204Ile) c.283T>A (p.Leu95Ile) | |
| 5 | g.149978262T>C | CA447402168 | SLC26A2 | n.842T>C c.610T>C (p.Leu204=) c.283T>C (p.Leu95=) | |
| 5 | g.149978262T>G | CA361705353 | SLC26A2 | n.842T>G c.610T>G (p.Leu204Val) c.283T>G (p.Leu95Val) | ClinVar |
| 5 | g.149978263T>A | CA361705354 | SLC26A2 | n.843T>A c.611T>A (p.Leu204Ter) c.284T>A (p.Leu95Ter) | |
| 5 | g.149978263T>C | CA361705355 | SLC26A2 | n.843T>C c.611T>C (p.Leu204Ser) c.284T>C (p.Leu95Ser) | |
| 5 | g.149978263T>G | CA361705356 | SLC26A2 | n.843T>G c.611T>G (p.Leu204Ter) c.284T>G (p.Leu95Ter) | ClinVar dbSNP |
| 5 | g.149978263T= | CA1590737477 | SLC26A2 | n.843T= c.611T= (p.Leu204=) c.284T= (p.Leu95=) | |
| 5 | g.149978264A>C | CA361705357 | SLC26A2 | n.844A>C c.612A>C (p.Leu204Phe) c.285A>C (p.Leu95Phe) | |
| 5 | g.149978264A>G | CA447402170 | SLC26A2 | n.844A>G c.612A>G (p.Leu204=) c.285A>G (p.Leu95=) | |
| 5 | g.149978264A>T | CA361705358 | SLC26A2 | n.844A>T c.612A>T (p.Leu204Phe) c.285A>T (p.Leu95Phe) | |
| 5 | g.149978266del | CA2675943469 | SLC26A2 | n.846del c.614del (p.Asn205IlefsTer21) c.287del (p.Asn96IlefsTer21) | gnomAD v4 |
| 5 | g.149978265_149978269del | CA2675943470 | SLC26A2 | n.845_849del c.613_617del (p.Asn205TyrfsTer7) c.286_290del (p.Asn96TyrfsTer7) | ClinVar gnomAD v4 |
| 5 | g.149978265A>C | CA361705359 | SLC26A2 | n.845A>C c.613A>C (p.Asn205His) c.286A>C (p.Asn96His) | |
| 5 | g.149978265A>G | CA361705360 | SLC26A2 | n.845A>G c.613A>G (p.Asn205Asp) c.286A>G (p.Asn96Asp) | |
| 5 | g.149978265A>T | CA361705361 | SLC26A2 | n.845A>T c.613A>T (p.Asn205Tyr) c.286A>T (p.Asn96Tyr) | |
| 5 | g.149978266A>C | CA361705364 | SLC26A2 | n.846A>C c.614A>C (p.Asn205Thr) c.287A>C (p.Asn96Thr) | |
| 5 | g.149978266A>G | CA361705362 | SLC26A2 | n.846A>G c.614A>G (p.Asn205Ser) c.287A>G (p.Asn96Ser) | |
| 5 | g.149978266A>T | CA361705363 | SLC26A2 | n.846A>T c.614A>T (p.Asn205Ile) c.287A>T (p.Asn96Ile) | |
| 5 | g.149978267T>A | CA361705365 | SLC26A2 | n.847T>A c.615T>A (p.Asn205Lys) c.288T>A (p.Asn96Lys) | |
| 5 | g.149978267T>C | CA447402176 | SLC26A2 | n.847T>C c.615T>C (p.Asn205=) c.288T>C (p.Asn96=) | |
| 5 | g.149978267T>G | CA361705366 | SLC26A2 | n.847T>G c.615T>G (p.Asn205Lys) c.288T>G (p.Asn96Lys) | |
| 5 | g.149978268C>A | CA361705367 | SLC26A2 | n.848C>A c.616C>A (p.His206Asn) c.289C>A (p.His97Asn) | |
| 5 | g.149978268C>G | CA361705368 | SLC26A2 | n.848C>G c.616C>G (p.His206Asp) c.289C>G (p.His97Asp) | |
| 5 | g.149978268C>T | CA361705369 | SLC26A2 | n.848C>T c.616C>T (p.His206Tyr) c.289C>T (p.His97Tyr) | |
| 5 | g.149978269A= | CA1590737478 | SLC26A2 | n.849A= c.617A= (p.His206=) c.290A= (p.His97=) | |
| 5 | g.149978269A>C | CA361705370 | SLC26A2 | n.849A>C c.617A>C (p.His206Pro) c.290A>C (p.His97Pro) | |
| 5 | g.149978269A>G | CA3505282 | SLC26A2 | n.849A>G c.617A>G (p.His206Arg) c.290A>G (p.His97Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978269A>T | CA361705371 | SLC26A2 | n.849A>T c.617A>T (p.His206Leu) c.290A>T (p.His97Leu) | gnomAD v4 |
| 5 | g.149978270T>A | CA361705372 | SLC26A2 | n.850T>A c.618T>A (p.His206Gln) c.291T>A (p.His97Gln) | |
| 5 | g.149978270T>C | CA447402182 | SLC26A2 | n.850T>C c.618T>C (p.His206=) c.291T>C (p.His97=) | |
| 5 | g.149978270T>G | CA3505283 | SLC26A2 | n.850T>G c.618T>G (p.His206Gln) c.291T>G (p.His97Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149978270T= | CA1590737479 | SLC26A2 | n.850T= c.618T= (p.His206=) c.291T= (p.His97=) | |
| 5 | g.149978271A>C | CA361705373 | SLC26A2 | n.851A>C c.619A>C (p.Thr207Pro) c.292A>C (p.Thr98Pro) |