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.149980868T>A | CA361707529 | SLC26A2 | c.1275T>A (p.Asn425Lys) c.372+2517T>A (n.372+2517T>A) | |
| 5 | g.149980868T>C | CA447402422 | SLC26A2 | c.1275T>C (p.Asn425=) c.372+2517T>C (n.372+2517T>C) | |
| 5 | g.149980868T>G | CA361707530 | SLC26A2 | c.1275T>G (p.Asn425Lys) c.372+2517T>G (n.372+2517T>G) | |
| 5 | g.149980868_149980871delinsTATC | CA1590738553 | SLC26A2 | c.1275_1278delinsTATC (p.Asn425=) c.372+2517_372+2520delinsTATC (n.372+2517_372+2520delinsTATC) | |
| 5 | g.149980869A= | CA1590738554 | SLC26A2 | c.1276A= (p.Ile426=) c.372+2518A= (n.372+2518A=) | |
| 5 | g.149980869A>C | CA361707531 | SLC26A2 | c.1276A>C (p.Ile426Leu) c.372+2518A>C (n.372+2518A>C) | |
| 5 | g.149980869A>G | CA361707532 | SLC26A2 | c.1276A>G (p.Ile426Val) c.372+2518A>G (n.372+2518A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980869A>T | CA361707533 | SLC26A2 | c.1276A>T (p.Ile426Phe) c.372+2518A>T (n.372+2518A>T) | |
| 5 | g.149980872_149980874del | CA563955689 | SLC26A2 | c.1279_1281del (p.Ile427del) c.372+2521_372+2523del (n.372+2521_372+2523del) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980870T>A | CA361707534 | SLC26A2 | c.1277T>A (p.Ile426Asn) c.372+2519T>A (n.372+2519T>A) | ClinVar dbSNP |
| 5 | g.149980870T>C | CA361707535 | SLC26A2 | c.1277T>C (p.Ile426Thr) c.372+2519T>C (n.372+2519T>C) | ClinVar dbSNP |
| 5 | g.149980870T>G | CA361707536 | SLC26A2 | c.1277T>G (p.Ile426Ser) c.372+2519T>G (n.372+2519T>G) | |
| 5 | g.149980871C>A | CA447402425 | SLC26A2 | c.1278C>A (p.Ile426=) c.372+2520C>A (n.372+2520C>A) | |
| 5 | g.149980871C>G | CA361707537 | SLC26A2 | c.1278C>G (p.Ile426Met) c.372+2520C>G (n.372+2520C>G) | |
| 5 | g.149980871C>T | CA447402426 | SLC26A2 | c.1278C>T (p.Ile426=) c.372+2520C>T (n.372+2520C>T) | |
| 5 | g.149980872A>C | CA361707539 | SLC26A2 | c.1279A>C (p.Ile427Leu) c.372+2521A>C (n.372+2521A>C) | |
| 5 | g.149980872A>G | CA361707538 | SLC26A2 | c.1279A>G (p.Ile427Val) c.372+2521A>G (n.372+2521A>G) | |
| 5 | g.149980872A>T | CA361707540 | SLC26A2 | c.1279A>T (p.Ile427Phe) c.372+2521A>T (n.372+2521A>T) | |
| 5 | g.149980873T>A | CA3505414 | SLC26A2 | c.1280T>A (p.Ile427Asn) c.372+2522T>A (n.372+2522T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980873T>C | CA361707541 | SLC26A2 | c.1280T>C (p.Ile427Thr) c.372+2522T>C (n.372+2522T>C) | dbSNP |
| 5 | g.149980873T>G | CA361707542 | SLC26A2 | c.1280T>G (p.Ile427Ser) c.372+2522T>G (n.372+2522T>G) | |
| 5 | g.149980873T= | CA1590738555 | SLC26A2 | c.1280T= (p.Ile427=) c.372+2522T= (n.372+2522T=) | |
| 5 | g.149980874C>A | CA447402428 | SLC26A2 | c.1281C>A (p.Ile427=) c.372+2523C>A (n.372+2523C>A) | |
| 5 | g.149980874C= | CA1590738557 | SLC26A2 | c.1281C= (p.Ile427=) c.372+2523C= (n.372+2523C=) | |
| 5 | g.149980874C>G | CA361707543 | SLC26A2 | c.1281C>G (p.Ile427Met) c.372+2523C>G (n.372+2523C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980874C>T | CA447402430 | SLC26A2 | c.1281C>T (p.Ile427=) c.372+2523C>T (n.372+2523C>T) | |
| 5 | g.149980876del | CA2573052453 | SLC26A2 | c.1283del (p.Pro428LeufsTer?) c.372+2525del (n.372+2525del) | ClinVar dbSNP |
| 5 | g.149980874_149980878delinsCCCTT | CA1590738556 | SLC26A2 | c.1281_1285delinsCCCTT (p.Ile427=) c.372+2523_372+2527delinsCCCTT (n.372+2523_372+2527delinsCCCTT) | |
| 5 | g.149980875C>A | CA361707544 | SLC26A2 | c.1282C>A (p.Pro428Thr) c.372+2524C>A (n.372+2524C>A) | |
| 5 | g.149980875C>G | CA361707545 | SLC26A2 | c.1282C>G (p.Pro428Ala) c.372+2524C>G (n.372+2524C>G) | |
| 5 | g.149980875C>T | CA361707546 | SLC26A2 | c.1282C>T (p.Pro428Ser) c.372+2524C>T (n.372+2524C>T) | |
| 5 | g.149980880_149980883del | CA3505415 | SLC26A2 | c.1287_1290del (p.Phe430SerfsTer29) c.372+2529_372+2532del (n.372+2529_372+2532del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980876C>A | CA361707547 | SLC26A2 | c.1283C>A (p.Pro428His) c.372+2525C>A (n.372+2525C>A) | |
| 5 | g.149980876C= | CA1590738558 | SLC26A2 | c.1283C= (p.Pro428=) c.372+2525C= (n.372+2525C=) | |
| 5 | g.149980876C>G | CA361707548 | SLC26A2 | c.1283C>G (p.Pro428Arg) c.372+2525C>G (n.372+2525C>G) | |
| 5 | g.149980876C>T | CA361707549 | SLC26A2 | c.1283C>T (p.Pro428Leu) c.372+2525C>T (n.372+2525C>T) | dbSNP |
| 5 | g.149980877T>A | CA447402433 | SLC26A2 | c.1284T>A (p.Pro428=) c.372+2526T>A (n.372+2526T>A) | |
| 5 | g.149980877T>C | CA447402434 | SLC26A2 | c.1284T>C (p.Pro428=) c.372+2526T>C (n.372+2526T>C) | |
| 5 | g.149980877T>G | CA447402436 | SLC26A2 | c.1284T>G (p.Pro428=) c.372+2526T>G (n.372+2526T>G) | ClinVar |
| 5 | g.149980878T>A | CA361707552 | SLC26A2 | c.1285T>A (p.Ser429Thr) c.372+2527T>A (n.372+2527T>A) | |
| 5 | g.149980878T>C | CA361707550 | SLC26A2 | c.1285T>C (p.Ser429Pro) c.372+2527T>C (n.372+2527T>C) | |
| 5 | g.149980878T>G | CA361707551 | SLC26A2 | c.1285T>G (p.Ser429Ala) c.372+2527T>G (n.372+2527T>G) | |
| 5 | g.149980879C>A | CA361707553 | SLC26A2 | c.1286C>A (p.Ser429Tyr) c.372+2528C>A (n.372+2528C>A) | |
| 5 | g.149980879C= | CA1590738559 | SLC26A2 | c.1286C= (p.Ser429=) c.372+2528C= (n.372+2528C=) | |
| 5 | g.149980879C>G | CA361707554 | SLC26A2 | c.1286C>G (p.Ser429Cys) c.372+2528C>G (n.372+2528C>G) | |
| 5 | g.149980879C>T | CA361707555 | SLC26A2 | c.1286C>T (p.Ser429Phe) c.372+2528C>T (n.372+2528C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980880C>A | CA447402439 | SLC26A2 | c.1287C>A (p.Ser429=) c.372+2529C>A (n.372+2529C>A) | |
| 5 | g.149980880C>G | CA447402437 | SLC26A2 | c.1287C>G (p.Ser429=) c.372+2529C>G (n.372+2529C>G) | |
| 5 | g.149980880C>T | CA447402438 | SLC26A2 | c.1287C>T (p.Ser429=) c.372+2529C>T (n.372+2529C>T) | |
| 5 | g.149980884_149980886del | CA2675943648 | SLC26A2 | c.1291_1293del (p.Phe431del) c.372+2533_372+2535del (n.372+2533_372+2535del) | gnomAD v4 |