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.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) | |
| 5 | g.149978271A>G | CA361705374 | SLC26A2 | n.851A>G c.619A>G (p.Thr207Ala) c.292A>G (p.Thr98Ala) | |
| 5 | g.149978271A>T | CA361705375 | SLC26A2 | n.851A>T c.619A>T (p.Thr207Ser) c.292A>T (p.Thr98Ser) | |
| 5 | g.149978272C>A | CA361705378 | SLC26A2 | n.852C>A c.620C>A (p.Thr207Lys) c.293C>A (p.Thr98Lys) | |
| 5 | g.149978272C>G | CA361705377 | SLC26A2 | n.852C>G c.620C>G (p.Thr207Arg) c.293C>G (p.Thr98Arg) | |
| 5 | g.149978272C>T | CA361705376 | SLC26A2 | n.852C>T c.620C>T (p.Thr207Ile) c.293C>T (p.Thr98Ile) | |
| 5 | g.149978273A>C | CA447402189 | SLC26A2 | n.853A>C c.621A>C (p.Thr207=) c.294A>C (p.Thr98=) | |
| 5 | g.149978273A>G | CA447402192 | SLC26A2 | n.853A>G c.621A>G (p.Thr207=) c.294A>G (p.Thr98=) | |
| 5 | g.149978273A>T | CA447402194 | SLC26A2 | n.853A>T c.621A>T (p.Thr207=) c.294A>T (p.Thr98=) | |
| 5 | g.149978274T>A | CA361705380 | SLC26A2 | n.854T>A c.622T>A (p.Ser208Thr) c.295T>A (p.Ser99Thr) | |
| 5 | g.149978274T>C | CA361705379 | SLC26A2 | n.854T>C c.622T>C (p.Ser208Pro) c.295T>C (p.Ser99Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149978274T>G | CA361705381 | SLC26A2 | n.854T>G c.622T>G (p.Ser208Ala) c.295T>G (p.Ser99Ala) | |
| 5 | g.149978274T= | CA1590737480 | SLC26A2 | n.854T= c.622T= (p.Ser208=) c.295T= (p.Ser99=) | |
| 5 | g.149978275C>A | CA361705382 | SLC26A2 | n.855C>A c.623C>A (p.Ser208Ter) c.296C>A (p.Ser99Ter) | |
| 5 | g.149978275C>G | CA361705383 | SLC26A2 | n.855C>G c.623C>G (p.Ser208Ter) c.296C>G (p.Ser99Ter) | |
| 5 | g.149978275C>T | CA361705384 | SLC26A2 | n.855C>T c.623C>T (p.Ser208Leu) c.296C>T (p.Ser99Leu) | dbSNP gnomAD v4 COSMIC |
| 5 | g.149978276A>C | CA447402201 | SLC26A2 | n.856A>C c.624A>C (p.Ser208=) c.297A>C (p.Ser99=) | |
| 5 | g.149978276A>G | CA447402206 | SLC26A2 | n.856A>G c.624A>G (p.Ser208=) c.297A>G (p.Ser99=) | |
| 5 | g.149978276A>T | CA447402207 | SLC26A2 | n.856A>T c.624A>T (p.Ser208=) c.297A>T (p.Ser99=) | |
| 5 | g.149978277G>A | CA361705385 | SLC26A2 | n.857G>A c.625G>A (p.Asp209Asn) c.298G>A (p.Asp100Asn) | |
| 5 | g.149978277G>C | CA361705386 | SLC26A2 | n.857G>C c.625G>C (p.Asp209His) c.298G>C (p.Asp100His) | |
| 5 | g.149978277G>T | CA361705387 | SLC26A2 | n.857G>T c.625G>T (p.Asp209Tyr) c.298G>T (p.Asp100Tyr) | |
| 5 | g.149978278A>C | CA361705388 | SLC26A2 | n.858A>C c.626A>C (p.Asp209Ala) c.299A>C (p.Asp100Ala) | |
| 5 | g.149978278A>G | CA361705389 | SLC26A2 | n.858A>G c.626A>G (p.Asp209Gly) c.299A>G (p.Asp100Gly) | gnomAD v4 |
| 5 | g.149978278A>T | CA361705390 | SLC26A2 | n.858A>T c.626A>T (p.Asp209Val) c.299A>T (p.Asp100Val) | |
| 5 | g.149978279C>A | CA3505284 | SLC26A2 | n.859C>A c.627C>A (p.Asp209Glu) c.300C>A (p.Asp100Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149978279C= | CA1590737481 | SLC26A2 | n.859C= c.627C= (p.Asp209=) c.300C= (p.Asp100=) |