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.149980466A= | CA1590738383 | SLC26A2 | c.873A= (p.Ile291=) c.372+2115A= (n.372+2115A=) | |
| 5 | g.149980466A>C | CA447402233 | SLC26A2 | c.873A>C (p.Ile291=) c.372+2115A>C (n.372+2115A>C) | |
| 5 | g.149980466A>G | CA361706463 | SLC26A2 | c.873A>G (p.Ile291Met) c.372+2115A>G (n.372+2115A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980466A>T | CA447402235 | SLC26A2 | c.873A>T (p.Ile291=) c.372+2115A>T (n.372+2115A>T) | |
| 5 | g.149980467C>A | CA361706465 | SLC26A2 | c.874C>A (p.His292Asn) c.372+2116C>A (n.372+2116C>A) | |
| 5 | g.149980467C= | CA1590738384 | SLC26A2 | c.874C= (p.His292=) c.372+2116C= (n.372+2116C=) | |
| 5 | g.149980467C>G | CA361706464 | SLC26A2 | c.874C>G (p.His292Asp) c.372+2116C>G (n.372+2116C>G) | |
| 5 | g.149980467C>T | CA3505346 | SLC26A2 | c.874C>T (p.His292Tyr) c.372+2116C>T (n.372+2116C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980468A= | CA1590738385 | SLC26A2 | c.875A= (p.His292=) c.372+2117A= (n.372+2117A=) | |
| 5 | g.149980468A>C | CA361706466 | SLC26A2 | c.875A>C (p.His292Pro) c.372+2117A>C (n.372+2117A>C) | |
| 5 | g.149980468A>G | CA3505347 | SLC26A2 | c.875A>G (p.His292Arg) c.372+2117A>G (n.372+2117A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980468A>T | CA361706467 | SLC26A2 | c.875A>T (p.His292Leu) c.372+2117A>T (n.372+2117A>T) | dbSNP |
| 5 | g.149980469T>A | CA361706468 | SLC26A2 | c.876T>A (p.His292Gln) c.372+2118T>A (n.372+2118T>A) | |
| 5 | g.149980469T>C | CA447402238 | SLC26A2 | c.876T>C (p.His292=) c.372+2118T>C (n.372+2118T>C) | ClinVar dbSNP |
| 5 | g.149980469T>G | CA361706469 | SLC26A2 | c.876T>G (p.His292Gln) c.372+2118T>G (n.372+2118T>G) | |
| 5 | g.149980469T= | CA1590738386 | SLC26A2 | c.876T= (p.His292=) c.372+2118T= (n.372+2118T=) | |
| 5 | g.149980470G>A | CA129083881 | SLC26A2 | c.877G>A (p.Val293Ile) c.372+2119G>A (n.372+2119G>A) | dbSNP |
| 5 | g.149980470G>C | CA361706471 | SLC26A2 | c.877G>C (p.Val293Leu) c.372+2119G>C (n.372+2119G>C) | |
| 5 | g.149980470G= | CA1590738387 | SLC26A2 | c.877G= (p.Val293=) c.372+2119G= (n.372+2119G=) | |
| 5 | g.149980470G>T | CA361706470 | SLC26A2 | c.877G>T (p.Val293Phe) c.372+2119G>T (n.372+2119G>T) | |
| 5 | g.149980471T>A | CA361706472 | SLC26A2 | c.878T>A (p.Val293Asp) c.372+2120T>A (n.372+2120T>A) | |
| 5 | g.149980471T>C | CA361706474 | SLC26A2 | c.878T>C (p.Val293Ala) c.372+2120T>C (n.372+2120T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980471T>G | CA361706473 | SLC26A2 | c.878T>G (p.Val293Gly) c.372+2120T>G (n.372+2120T>G) | |
| 5 | g.149980471T= | CA1590738388 | SLC26A2 | c.878T= (p.Val293=) c.372+2120T= (n.372+2120T=) | |
| 5 | g.149980472C>A | CA447402241 | SLC26A2 | c.879C>A (p.Val293=) c.372+2121C>A (n.372+2121C>A) | |
| 5 | g.149980472C>G | CA447402242 | SLC26A2 | c.879C>G (p.Val293=) c.372+2121C>G (n.372+2121C>G) | |
| 5 | g.149980472C>T | CA447402243 | SLC26A2 | c.879C>T (p.Val293=) c.372+2121C>T (n.372+2121C>T) | |
| 5 | g.149980473T>A | CA361706475 | SLC26A2 | c.880T>A (p.Phe294Ile) c.372+2122T>A (n.372+2122T>A) | |
| 5 | g.149980473T>C | CA361706477 | SLC26A2 | c.880T>C (p.Phe294Leu) c.372+2122T>C (n.372+2122T>C) | |
| 5 | g.149980473T>G | CA361706476 | SLC26A2 | c.880T>G (p.Phe294Val) c.372+2122T>G (n.372+2122T>G) | |
| 5 | g.149980474T>A | CA361706478 | SLC26A2 | c.881T>A (p.Phe294Tyr) c.372+2123T>A (n.372+2123T>A) | |
| 5 | g.149980474T>C | CA361706479 | SLC26A2 | c.881T>C (p.Phe294Ser) c.372+2123T>C (n.372+2123T>C) | gnomAD v4 |
| 5 | g.149980474T>G | CA361706480 | SLC26A2 | c.881T>G (p.Phe294Cys) c.372+2123T>G (n.372+2123T>G) | |
| 5 | g.149980475C>A | CA361706481 | SLC26A2 | c.882C>A (p.Phe294Leu) c.372+2124C>A (n.372+2124C>A) | |
| 5 | g.149980475C= | CA1590738389 | SLC26A2 | c.882C= (p.Phe294=) c.372+2124C= (n.372+2124C=) | |
| 5 | g.149980475C>G | CA361706482 | SLC26A2 | c.882C>G (p.Phe294Leu) c.372+2124C>G (n.372+2124C>G) | |
| 5 | g.149980475C>T | CA3505348 | SLC26A2 | c.882C>T (p.Phe294=) c.372+2124C>T (n.372+2124C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.149980476A>C | CA447402244 | SLC26A2 | c.883A>C (p.Arg295=) c.372+2125A>C (n.372+2125A>C) | |
| 5 | g.149980476A>G | CA361706483 | SLC26A2 | c.883A>G (p.Arg295Gly) c.372+2125A>G (n.372+2125A>G) | |
| 5 | g.149980476A>T | CA361706484 | SLC26A2 | c.883A>T (p.Arg295Ter) c.372+2125A>T (n.372+2125A>T) | |
| 5 | g.149980477G>A | CA361706485 | SLC26A2 | c.884G>A (p.Arg295Lys) c.372+2126G>A (n.372+2126G>A) | |
| 5 | g.149980477G>C | CA361706486 | SLC26A2 | c.884G>C (p.Arg295Thr) c.372+2126G>C (n.372+2126G>C) | |
| 5 | g.149980477G>T | CA361706487 | SLC26A2 | c.884G>T (p.Arg295Ile) c.372+2126G>T (n.372+2126G>T) | |
| 5 | g.149980478A>C | CA361706489 | SLC26A2 | c.885A>C (p.Arg295Ser) c.372+2127A>C (n.372+2127A>C) | |
| 5 | g.149980478A>G | CA447402248 | SLC26A2 | c.885A>G (p.Arg295=) c.372+2127A>G (n.372+2127A>G) | |
| 5 | g.149980478A>T | CA361706488 | SLC26A2 | c.885A>T (p.Arg295Ser) c.372+2127A>T (n.372+2127A>T) | |
| 5 | g.149980479A>C | CA361706490 | SLC26A2 | c.886A>C (p.Asn296His) c.372+2128A>C (n.372+2128A>C) | |
| 5 | g.149980479A>G | CA361706491 | SLC26A2 | c.886A>G (p.Asn296Asp) c.372+2128A>G (n.372+2128A>G) | COSMIC |
| 5 | g.149980479A>T | CA361706492 | SLC26A2 | c.886A>T (p.Asn296Tyr) c.372+2128A>T (n.372+2128A>T) | |
| 5 | g.149980480A>C | CA361706493 | SLC26A2 | c.887A>C (p.Asn296Thr) c.372+2129A>C (n.372+2129A>C) |