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.149980839C>A | CA361707461 | SLC26A2 | c.1246C>A (p.Gln416Lys) c.372+2488C>A (n.372+2488C>A) | |
| 5 | g.149980839C>G | CA361707462 | SLC26A2 | c.1246C>G (p.Gln416Glu) c.372+2488C>G (n.372+2488C>G) | |
| 5 | g.149980839C>T | CA361707460 | SLC26A2 | c.1246C>T (p.Gln416Ter) c.372+2488C>T (n.372+2488C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980840A= | CA1590738542 | SLC26A2 | c.1247A= (p.Gln416=) c.372+2489A= (n.372+2489A=) | |
| 5 | g.149980840A>C | CA361707463 | SLC26A2 | c.1247A>C (p.Gln416Pro) c.372+2489A>C (n.372+2489A>C) | dbSNP |
| 5 | g.149980840A>G | CA361707464 | SLC26A2 | c.1247A>G (p.Gln416Arg) c.372+2489A>G (n.372+2489A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980840A>T | CA361707465 | SLC26A2 | c.1247A>T (p.Gln416Leu) c.372+2489A>T (n.372+2489A>T) | |
| 5 | g.149980841G>A | CA447402522 | SLC26A2 | c.1248G>A (p.Gln416=) c.372+2490G>A (n.372+2490G>A) | |
| 5 | g.149980841G>C | CA361707466 | SLC26A2 | c.1248G>C (p.Gln416His) c.372+2490G>C (n.372+2490G>C) | |
| 5 | g.149980841G>T | CA361707467 | SLC26A2 | c.1248G>T (p.Gln416His) c.372+2490G>T (n.372+2490G>T) | |
| 5 | g.149980842G>A | CA361707470 | SLC26A2 | c.1249G>A (p.Glu417Lys) c.372+2491G>A (n.372+2491G>A) | |
| 5 | g.149980842G>C | CA361707468 | SLC26A2 | c.1249G>C (p.Glu417Gln) c.372+2491G>C (n.372+2491G>C) | |
| 5 | g.149980842G>T | CA361707469 | SLC26A2 | c.1249G>T (p.Glu417Ter) c.372+2491G>T (n.372+2491G>T) | |
| 5 | g.149980843A>C | CA361707471 | SLC26A2 | c.1250A>C (p.Glu417Ala) c.372+2492A>C (n.372+2492A>C) | |
| 5 | g.149980843A>G | CA361707472 | SLC26A2 | c.1250A>G (p.Glu417Gly) c.372+2492A>G (n.372+2492A>G) | |
| 5 | g.149980843A>T | CA361707473 | SLC26A2 | c.1250A>T (p.Glu417Val) c.372+2492A>T (n.372+2492A>T) | |
| 5 | g.149980845del | CA2768879503 | SLC26A2 | c.1252del (p.Met418CysfsTer?) c.372+2494del (n.372+2494del) | |
| 5 | g.149980844A>C | CA361707474 | SLC26A2 | c.1251A>C (p.Glu417Asp) c.372+2493A>C (n.372+2493A>C) | |
| 5 | g.149980844A>G | CA447402524 | SLC26A2 | c.1251A>G (p.Glu417=) c.372+2493A>G (n.372+2493A>G) | |
| 5 | g.149980844A>T | CA361707475 | SLC26A2 | c.1251A>T (p.Glu417Asp) c.372+2493A>T (n.372+2493A>T) | |
| 5 | g.149980845A= | CA1590738543 | SLC26A2 | c.1252A= (p.Met418=) c.372+2494A= (n.372+2494A=) | |
| 5 | g.149980845A>C | CA361707477 | SLC26A2 | c.1252A>C (p.Met418Leu) c.372+2494A>C (n.372+2494A>C) | |
| 5 | g.149980845A>G | CA3505410 | SLC26A2 | c.1252A>G (p.Met418Val) c.372+2494A>G (n.372+2494A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980845A>T | CA361707476 | SLC26A2 | c.1252A>T (p.Met418Leu) c.372+2494A>T (n.372+2494A>T) | |
| 5 | g.149980846T>A | CA361707478 | SLC26A2 | c.1253T>A (p.Met418Lys) c.372+2495T>A (n.372+2495T>A) | |
| 5 | g.149980846T>C | CA361707480 | SLC26A2 | c.1253T>C (p.Met418Thr) c.372+2495T>C (n.372+2495T>C) | |
| 5 | g.149980846T>G | CA361707479 | SLC26A2 | c.1253T>G (p.Met418Arg) c.372+2495T>G (n.372+2495T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980846T= | CA1590738544 | SLC26A2 | c.1253T= (p.Met418=) c.372+2495T= (n.372+2495T=) | |
| 5 | g.149980847G>A | CA3505411 | SLC26A2 | c.1254G>A (p.Met418Ile) c.372+2496G>A (n.372+2496G>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149980847G>C | CA361707482 | SLC26A2 | c.1254G>C (p.Met418Ile) c.372+2496G>C (n.372+2496G>C) | |
| 5 | g.149980847G= | CA1590738545 | SLC26A2 | c.1254G= (p.Met418=) c.372+2496G= (n.372+2496G=) | |
| 5 | g.149980847G>T | CA361707481 | SLC26A2 | c.1254G>T (p.Met418Ile) c.372+2496G>T (n.372+2496G>T) | |
| 5 | g.149980848T>A | CA361707483 | SLC26A2 | c.1255T>A (p.Tyr419Asn) c.372+2497T>A (n.372+2497T>A) | |
| 5 | g.149980848T>C | CA361707485 | SLC26A2 | c.1255T>C (p.Tyr419His) c.372+2497T>C (n.372+2497T>C) | |
| 5 | g.149980848T>G | CA361707484 | SLC26A2 | c.1255T>G (p.Tyr419Asp) c.372+2497T>G (n.372+2497T>G) | |
| 5 | g.149980849A>C | CA361707486 | SLC26A2 | c.1256A>C (p.Tyr419Ser) c.372+2498A>C (n.372+2498A>C) | |
| 5 | g.149980849A>G | CA361707487 | SLC26A2 | c.1256A>G (p.Tyr419Cys) c.372+2498A>G (n.372+2498A>G) | |
| 5 | g.149980849A>T | CA361707488 | SLC26A2 | c.1256A>T (p.Tyr419Phe) c.372+2498A>T (n.372+2498A>T) | |
| 5 | g.149980850T>A | CA361707489 | SLC26A2 | c.1257T>A (p.Tyr419Ter) c.372+2499T>A (n.372+2499T>A) | |
| 5 | g.149980850T>C | CA447402399 | SLC26A2 | c.1257T>C (p.Tyr419=) c.372+2499T>C (n.372+2499T>C) | ClinVar |
| 5 | g.149980850T>G | CA361707490 | SLC26A2 | c.1257T>G (p.Tyr419Ter) c.372+2499T>G (n.372+2499T>G) | |
| 5 | g.149980851G>A | CA361707491 | SLC26A2 | c.1258G>A (p.Ala420Thr) c.372+2500G>A (n.372+2500G>A) | |
| 5 | g.149980851G>C | CA361707492 | SLC26A2 | c.1258G>C (p.Ala420Pro) c.372+2500G>C (n.372+2500G>C) | |
| 5 | g.149980851G>T | CA361707493 | SLC26A2 | c.1258G>T (p.Ala420Ser) c.372+2500G>T (n.372+2500G>T) | |
| 5 | g.149980852C>A | CA361707494 | SLC26A2 | c.1259C>A (p.Ala420Asp) c.372+2501C>A (n.372+2501C>A) | |
| 5 | g.149980852C>G | CA361707495 | SLC26A2 | c.1259C>G (p.Ala420Gly) c.372+2501C>G (n.372+2501C>G) | |
| 5 | g.149980852C>T | CA361707496 | SLC26A2 | c.1259C>T (p.Ala420Val) c.372+2501C>T (n.372+2501C>T) | |
| 5 | g.149980853C>A | CA447402400 | SLC26A2 | c.1260C>A (p.Ala420=) c.372+2502C>A (n.372+2502C>A) | |
| 5 | g.149980853C>G | CA447402401 | SLC26A2 | c.1260C>G (p.Ala420=) c.372+2502C>G (n.372+2502C>G) | |
| 5 | g.149980853C>T | CA447402402 | SLC26A2 | c.1260C>T (p.Ala420=) c.372+2502C>T (n.372+2502C>T) |