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.149980933A>C | CA361707671 | SLC26A2 | c.1340A>C (p.Glu447Ala) c.372+2582A>C (n.372+2582A>C) | |
| 5 | g.149980933A>G | CA361707672 | SLC26A2 | c.1340A>G (p.Glu447Gly) c.372+2582A>G (n.372+2582A>G) | |
| 5 | g.149980933A>T | CA361707673 | SLC26A2 | c.1340A>T (p.Glu447Val) c.372+2582A>T (n.372+2582A>T) | |
| 5 | g.149980934A>C | CA361707674 | SLC26A2 | c.1341A>C (p.Glu447Asp) c.372+2583A>C (n.372+2583A>C) | |
| 5 | g.149980934A>G | CA447402505 | SLC26A2 | c.1341A>G (p.Glu447=) c.372+2583A>G (n.372+2583A>G) | ClinVar gnomAD v4 |
| 5 | g.149980934A>T | CA361707675 | SLC26A2 | c.1341A>T (p.Glu447Asp) c.372+2583A>T (n.372+2583A>T) | |
| 5 | g.149980935T>A | CA3505423 | SLC26A2 | c.1342T>A (p.Ser448Thr) c.372+2584T>A (n.372+2584T>A) | dbSNP ExAC gnomAD v2 |
| 5 | g.149980935T>C | CA361707676 | SLC26A2 | c.1342T>C (p.Ser448Pro) c.372+2584T>C (n.372+2584T>C) | |
| 5 | g.149980935T>G | CA361707677 | SLC26A2 | c.1342T>G (p.Ser448Ala) c.372+2584T>G (n.372+2584T>G) | gnomAD v4 |
| 5 | g.149980935T= | CA1590738582 | SLC26A2 | c.1342T= (p.Ser448=) c.372+2584T= (n.372+2584T=) | |
| 5 | g.149980936C>A | CA361707678 | SLC26A2 | c.1343C>A (p.Ser448Ter) c.372+2585C>A (n.372+2585C>A) | ClinVar |
| 5 | g.149980936C= | CA1590738583 | SLC26A2 | c.1343C= (p.Ser448=) c.372+2585C= (n.372+2585C=) | |
| 5 | g.149980936C>G | CA3505424 | SLC26A2 | c.1343C>G (p.Ser448Ter) c.372+2585C>G (n.372+2585C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980936C>T | CA361707679 | SLC26A2 | c.1343C>T (p.Ser448Leu) c.372+2585C>T (n.372+2585C>T) | gnomAD v4 |
| 5 | g.149980937A>C | CA447402509 | SLC26A2 | c.1344A>C (p.Ser448=) c.372+2586A>C (n.372+2586A>C) | |
| 5 | g.149980937A>G | CA447402511 | SLC26A2 | c.1344A>G (p.Ser448=) c.372+2586A>G (n.372+2586A>G) | |
| 5 | g.149980937A>T | CA447402508 | SLC26A2 | c.1344A>T (p.Ser448=) c.372+2586A>T (n.372+2586A>T) | |
| 5 | g.149980938A= | CA1590738584 | SLC26A2 | c.1345A= (p.Thr449=) c.372+2587A= (n.372+2587A=) | |
| 5 | g.149980938A>C | CA361707682 | SLC26A2 | c.1345A>C (p.Thr449Pro) c.372+2587A>C (n.372+2587A>C) | |
| 5 | g.149980938A>G | CA361707681 | SLC26A2 | c.1345A>G (p.Thr449Ala) c.372+2587A>G (n.372+2587A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980938A>T | CA361707680 | SLC26A2 | c.1345A>T (p.Thr449Ser) c.372+2587A>T (n.372+2587A>T) | gnomAD v4 |
| 5 | g.149980939C>A | CA361707683 | SLC26A2 | c.1346C>A (p.Thr449Lys) c.372+2588C>A (n.372+2588C>A) | |
| 5 | g.149980939C>G | CA361707684 | SLC26A2 | c.1346C>G (p.Thr449Arg) c.372+2588C>G (n.372+2588C>G) | |
| 5 | g.149980939C>T | CA361707685 | SLC26A2 | c.1346C>T (p.Thr449Ile) c.372+2588C>T (n.372+2588C>T) | |
| 5 | g.149980940A>C | CA447402515 | SLC26A2 | c.1347A>C (p.Thr449=) c.372+2589A>C (n.372+2589A>C) | |
| 5 | g.149980940A>G | CA447402512 | SLC26A2 | c.1347A>G (p.Thr449=) c.372+2589A>G (n.372+2589A>G) | |
| 5 | g.149980940A>T | CA447402513 | SLC26A2 | c.1347A>T (p.Thr449=) c.372+2589A>T (n.372+2589A>T) | |
| 5 | g.149980941G>A | CA361707686 | SLC26A2 | c.1348G>A (p.Gly450Ser) c.372+2590G>A (n.372+2590G>A) | |
| 5 | g.149980941G>C | CA361707687 | SLC26A2 | c.1348G>C (p.Gly450Arg) c.372+2590G>C (n.372+2590G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980941G= | CA1590738585 | SLC26A2 | c.1348G= (p.Gly450=) c.372+2590G= (n.372+2590G=) | |
| 5 | g.149980941G>T | CA361707688 | SLC26A2 | c.1348G>T (p.Gly450Cys) c.372+2590G>T (n.372+2590G>T) | |
| 5 | g.149980942G>A | CA3505425 | SLC26A2 | c.1349G>A (p.Gly450Asp) c.372+2591G>A (n.372+2591G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980942G>C | CA361707689 | SLC26A2 | c.1349G>C (p.Gly450Ala) c.372+2591G>C (n.372+2591G>C) | |
| 5 | g.149980942G= | CA1590738586 | SLC26A2 | c.1349G= (p.Gly450=) c.372+2591G= (n.372+2591G=) | |
| 5 | g.149980942G>T | CA361707690 | SLC26A2 | c.1349G>T (p.Gly450Val) c.372+2591G>T (n.372+2591G>T) | |
| 5 | g.149980943C>A | CA447402518 | SLC26A2 | c.1350C>A (p.Gly450=) c.372+2592C>A (n.372+2592C>A) | gnomAD v4 |
| 5 | g.149980943C>G | CA447402520 | SLC26A2 | c.1350C>G (p.Gly450=) c.372+2592C>G (n.372+2592C>G) | |
| 5 | g.149980943C>T | CA447402519 | SLC26A2 | c.1350C>T (p.Gly450=) c.372+2592C>T (n.372+2592C>T) | |
| 5 | g.149980944T>A | CA361707691 | SLC26A2 | c.1351T>A (p.Cys451Ser) c.372+2593T>A (n.372+2593T>A) | |
| 5 | g.149980944T>C | CA361707692 | SLC26A2 | c.1351T>C (p.Cys451Arg) c.372+2593T>C (n.372+2593T>C) | |
| 5 | g.149980944T>G | CA361707693 | SLC26A2 | c.1351T>G (p.Cys451Gly) c.372+2593T>G (n.372+2593T>G) | |
| 5 | g.149980945G>A | CA361707695 | SLC26A2 | c.1352G>A (p.Cys451Tyr) c.372+2594G>A (n.372+2594G>A) | |
| 5 | g.149980945G>C | CA361707696 | SLC26A2 | c.1352G>C (p.Cys451Ser) c.372+2594G>C (n.372+2594G>C) | |
| 5 | g.149980945G>T | CA361707694 | SLC26A2 | c.1352G>T (p.Cys451Phe) c.372+2594G>T (n.372+2594G>T) | |
| 5 | g.149980946C>A | CA361707697 | SLC26A2 | c.1353C>A (p.Cys451Ter) c.372+2595C>A (n.372+2595C>A) | |
| 5 | g.149980946C>G | CA361707698 | SLC26A2 | c.1353C>G (p.Cys451Trp) c.372+2595C>G (n.372+2595C>G) | |
| 5 | g.149980946C>T | CA447402523 | SLC26A2 | c.1353C>T (p.Cys451=) c.372+2595C>T (n.372+2595C>T) | ClinVar |
| 5 | g.149980947C>A | CA361707699 | SLC26A2 | c.1354C>A (p.His452Asn) c.372+2596C>A (n.372+2596C>A) | |
| 5 | g.149980947C>G | CA361707700 | SLC26A2 | c.1354C>G (p.His452Asp) c.372+2596C>G (n.372+2596C>G) | |
| 5 | g.149980947C>T | CA361707701 | SLC26A2 | c.1354C>T (p.His452Tyr) c.372+2596C>T (n.372+2596C>T) |