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.149980558A>C | CA361706660 | SLC26A2 | c.965A>C (p.Asn322Thr) c.372+2207A>C (n.372+2207A>C) | |
| 5 | g.149980558A>G | CA361706661 | SLC26A2 | c.965A>G (p.Asn322Ser) c.372+2207A>G (n.372+2207A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980558A>T | CA361706662 | SLC26A2 | c.965A>T (p.Asn322Ile) c.372+2207A>T (n.372+2207A>T) | |
| 5 | g.149980559T>A | CA361706663 | SLC26A2 | c.966T>A (p.Asn322Lys) c.372+2208T>A (n.372+2208T>A) | |
| 5 | g.149980559T>C | CA447402350 | SLC26A2 | c.966T>C (p.Asn322=) c.372+2208T>C (n.372+2208T>C) | |
| 5 | g.149980559T>G | CA361706664 | SLC26A2 | c.966T>G (p.Asn322Lys) c.372+2208T>G (n.372+2208T>G) | |
| 5 | g.149980560G>A | CA361706665 | SLC26A2 | c.967G>A (p.Glu323Lys) c.372+2209G>A (n.372+2209G>A) | |
| 5 | g.149980560G>C | CA361706666 | SLC26A2 | c.967G>C (p.Glu323Gln) c.372+2209G>C (n.372+2209G>C) | |
| 5 | g.149980560G>T | CA361706667 | SLC26A2 | c.967G>T (p.Glu323Ter) c.372+2209G>T (n.372+2209G>T) | COSMIC |
| 5 | g.149980561A>C | CA361706668 | SLC26A2 | c.968A>C (p.Glu323Ala) c.372+2210A>C (n.372+2210A>C) | |
| 5 | g.149980561A>G | CA361706669 | SLC26A2 | c.968A>G (p.Glu323Gly) c.372+2210A>G (n.372+2210A>G) | |
| 5 | g.149980561A>T | CA361706670 | SLC26A2 | c.968A>T (p.Glu323Val) c.372+2210A>T (n.372+2210A>T) | |
| 5 | g.149980562A>C | CA361706671 | SLC26A2 | c.969A>C (p.Glu323Asp) c.372+2211A>C (n.372+2211A>C) | |
| 5 | g.149980562A>G | CA447402354 | SLC26A2 | c.969A>G (p.Glu323=) c.372+2211A>G (n.372+2211A>G) | |
| 5 | g.149980562A>T | CA361706672 | SLC26A2 | c.969A>T (p.Glu323Asp) c.372+2211A>T (n.372+2211A>T) | gnomAD v4 |
| 5 | g.149980563C>A | CA361706673 | SLC26A2 | c.970C>A (p.His324Asn) c.372+2212C>A (n.372+2212C>A) | |
| 5 | g.149980563C= | CA1590738423 | SLC26A2 | c.970C= (p.His324=) c.372+2212C= (n.372+2212C=) | |
| 5 | g.149980563C>G | CA361706675 | SLC26A2 | c.970C>G (p.His324Asp) c.372+2212C>G (n.372+2212C>G) | |
| 5 | g.149980563C>T | CA361706674 | SLC26A2 | c.970C>T (p.His324Tyr) c.372+2212C>T (n.372+2212C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149980564A>C | CA361706676 | SLC26A2 | c.971A>C (p.His324Pro) c.372+2213A>C (n.372+2213A>C) | |
| 5 | g.149980564A>G | CA361706677 | SLC26A2 | c.971A>G (p.His324Arg) c.372+2213A>G (n.372+2213A>G) | |
| 5 | g.149980564A>T | CA361706678 | SLC26A2 | c.971A>T (p.His324Leu) c.372+2213A>T (n.372+2213A>T) | |
| 5 | g.149980565C>A | CA361706679 | SLC26A2 | c.972C>A (p.His324Gln) c.372+2214C>A (n.372+2214C>A) | dbSNP gnomAD v4 |
| 5 | g.149980565C= | CA1590738424 | SLC26A2 | c.972C= (p.His324=) c.372+2214C= (n.372+2214C=) | |
| 5 | g.149980565C>G | CA361706680 | SLC26A2 | c.972C>G (p.His324Gln) c.372+2214C>G (n.372+2214C>G) | |
| 5 | g.149980565C>T | CA447402358 | SLC26A2 | c.972C>T (p.His324=) c.372+2214C>T (n.372+2214C>T) | dbSNP |
| 5 | g.149980566T>A | CA361706681 | SLC26A2 | c.973T>A (p.Phe325Ile) c.372+2215T>A (n.372+2215T>A) | |
| 5 | g.149980566T>C | CA361706682 | SLC26A2 | c.973T>C (p.Phe325Leu) c.372+2215T>C (n.372+2215T>C) | |
| 5 | g.149980566T>G | CA361706683 | SLC26A2 | c.973T>G (p.Phe325Val) c.372+2215T>G (n.372+2215T>G) | |
| 5 | g.149980567T>A | CA361706684 | SLC26A2 | c.974T>A (p.Phe325Tyr) c.372+2216T>A (n.372+2216T>A) | |
| 5 | g.149980567T>C | CA361706685 | SLC26A2 | c.974T>C (p.Phe325Ser) c.372+2216T>C (n.372+2216T>C) | |
| 5 | g.149980567T>G | CA361706686 | SLC26A2 | c.974T>G (p.Phe325Cys) c.372+2216T>G (n.372+2216T>G) | |
| 5 | g.149980568C>A | CA361706687 | SLC26A2 | c.975C>A (p.Phe325Leu) c.372+2217C>A (n.372+2217C>A) | gnomAD v4 |
| 5 | g.149980568C>G | CA361706688 | SLC26A2 | c.975C>G (p.Phe325Leu) c.372+2217C>G (n.372+2217C>G) | |
| 5 | g.149980568C>T | CA447402360 | SLC26A2 | c.975C>T (p.Phe325=) c.372+2217C>T (n.372+2217C>T) | |
| 5 | g.149980569A>C | CA361706689 | SLC26A2 | c.976A>C (p.Lys326Gln) c.372+2218A>C (n.372+2218A>C) | |
| 5 | g.149980569A>G | CA361706691 | SLC26A2 | c.976A>G (p.Lys326Glu) c.372+2218A>G (n.372+2218A>G) | |
| 5 | g.149980569A>T | CA361706690 | SLC26A2 | c.976A>T (p.Lys326Ter) c.372+2218A>T (n.372+2218A>T) | |
| 5 | g.149980570A>C | CA361706692 | SLC26A2 | c.977A>C (p.Lys326Thr) c.372+2219A>C (n.372+2219A>C) | |
| 5 | g.149980570A>G | CA361706693 | SLC26A2 | c.977A>G (p.Lys326Arg) c.372+2219A>G (n.372+2219A>G) | |
| 5 | g.149980570A>T | CA361706694 | SLC26A2 | c.977A>T (p.Lys326Ile) c.372+2219A>T (n.372+2219A>T) | |
| 5 | g.149980571A= | CA1590738425 | SLC26A2 | c.978A= (p.Lys326=) c.372+2220A= (n.372+2220A=) | |
| 5 | g.149980571A>C | CA361706695 | SLC26A2 | c.978A>C (p.Lys326Asn) c.372+2220A>C (n.372+2220A>C) | |
| 5 | g.149980571A>G | CA447402364 | SLC26A2 | c.978A>G (p.Lys326=) c.372+2220A>G (n.372+2220A>G) | |
| 5 | g.149980571A>T | CA361706696 | SLC26A2 | c.978A>T (p.Lys326Asn) c.372+2220A>T (n.372+2220A>T) | dbSNP |
| 5 | g.149980572T>A | CA361706697 | SLC26A2 | c.979T>A (p.Ser327Thr) c.372+2221T>A (n.372+2221T>A) | |
| 5 | g.149980572T>C | CA361706698 | SLC26A2 | c.979T>C (p.Ser327Pro) c.372+2221T>C (n.372+2221T>C) | |
| 5 | g.149980572T>G | CA361706699 | SLC26A2 | c.979T>G (p.Ser327Ala) c.372+2221T>G (n.372+2221T>G) | |
| 5 | g.149980573C>A | CA361706700 | SLC26A2 | c.980C>A (p.Ser327Tyr) c.372+2222C>A (n.372+2222C>A) | |
| 5 | g.149980573C= | CA1590738426 | SLC26A2 | c.980C= (p.Ser327=) c.372+2222C= (n.372+2222C=) |