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.149980616A= | CA1590738450 | SLC26A2 | c.1023A= (p.Val341=) c.372+2265A= (n.372+2265A=) | |
| 5 | g.149980616A>C | CA447402239 | SLC26A2 | c.1023A>C (p.Val341=) c.372+2265A>C (n.372+2265A>C) | |
| 5 | g.149980616A>G | CA3505376 | SLC26A2 | c.1023A>G (p.Val341=) c.372+2265A>G (n.372+2265A>G) | ClinVar dbSNP ExAC |
| 5 | g.149980616A>T | CA447402240 | SLC26A2 | c.1023A>T (p.Val341=) c.372+2265A>T (n.372+2265A>T) | |
| 5 | g.149980619_149980621dup | CA658822218 | SLC26A2 | c.1026_1028dup (p.Ala343_Thr344insAla) c.372+2268_372+2270dup (n.372+2268_372+2270dup) | ClinVar dbSNP |
| 5 | g.149980617G>A | CA361706983 | SLC26A2 | c.1024G>A (p.Ala342Thr) c.372+2266G>A (n.372+2266G>A) | |
| 5 | g.149980617G>C | CA3505377 | SLC26A2 | c.1024G>C (p.Ala342Pro) c.372+2266G>C (n.372+2266G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.149980617G= | CA1590738451 | SLC26A2 | c.1024G= (p.Ala342=) c.372+2266G= (n.372+2266G=) | |
| 5 | g.149980617G>T | CA361706984 | SLC26A2 | c.1024G>T (p.Ala342Ser) c.372+2266G>T (n.372+2266G>T) | |
| 5 | g.149980618C>A | CA361706985 | SLC26A2 | c.1025C>A (p.Ala342Glu) c.372+2267C>A (n.372+2267C>A) | |
| 5 | g.149980618C= | CA1590738453 | SLC26A2 | c.1025C= (p.Ala342=) c.372+2267C= (n.372+2267C=) | |
| 5 | g.149980618C>G | CA361706986 | SLC26A2 | c.1025C>G (p.Ala342Gly) c.372+2267C>G (n.372+2267C>G) | gnomAD v4 |
| 5 | g.149980618C>T | CA361706987 | SLC26A2 | c.1025C>T (p.Ala342Val) c.372+2267C>T (n.372+2267C>T) | dbSNP |
| 5 | g.149980618dup | CA1590738452 | SLC26A2 | c.1025dup (p.Ala343SerfsTer12) c.372+2267dup (n.372+2267dup) | dbSNP |
| 5 | g.149980619A>C | CA447402247 | SLC26A2 | c.1026A>C (p.Ala342=) c.372+2268A>C (n.372+2268A>C) | |
| 5 | g.149980619A>G | CA447402246 | SLC26A2 | c.1026A>G (p.Ala342=) c.372+2268A>G (n.372+2268A>G) | |
| 5 | g.149980619A>T | CA447402245 | SLC26A2 | c.1026A>T (p.Ala342=) c.372+2268A>T (n.372+2268A>T) | |
| 5 | g.149980620G>A | CA129084067 | SLC26A2 | c.1027G>A (p.Ala343Thr) c.372+2269G>A (n.372+2269G>A) | dbSNP |
| 5 | g.149980620G>C | CA361706988 | SLC26A2 | c.1027G>C (p.Ala343Pro) c.372+2269G>C (n.372+2269G>C) | |
| 5 | g.149980620G= | CA1590738454 | SLC26A2 | c.1027G= (p.Ala343=) c.372+2269G= (n.372+2269G=) | |
| 5 | g.149980620G>T | CA361706989 | SLC26A2 | c.1027G>T (p.Ala343Ser) c.372+2269G>T (n.372+2269G>T) | |
| 5 | g.149980621C>A | CA361706992 | SLC26A2 | c.1028C>A (p.Ala343Asp) c.372+2270C>A (n.372+2270C>A) | |
| 5 | g.149980621C= | CA1590738455 | SLC26A2 | c.1028C= (p.Ala343=) c.372+2270C= (n.372+2270C=) | |
| 5 | g.149980621C>G | CA361706990 | SLC26A2 | c.1028C>G (p.Ala343Gly) c.372+2270C>G (n.372+2270C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980621C>T | CA361706991 | SLC26A2 | c.1028C>T (p.Ala343Val) c.372+2270C>T (n.372+2270C>T) | |
| 5 | g.149980622C>A | CA447402249 | SLC26A2 | c.1029C>A (p.Ala343=) c.372+2271C>A (n.372+2271C>A) | |
| 5 | g.149980622C= | CA1590738456 | SLC26A2 | c.1029C= (p.Ala343=) c.372+2271C= (n.372+2271C=) | |
| 5 | g.149980622C>G | CA447402250 | SLC26A2 | c.1029C>G (p.Ala343=) c.372+2271C>G (n.372+2271C>G) | |
| 5 | g.149980622C>T | CA447402251 | SLC26A2 | c.1029C>T (p.Ala343=) c.372+2271C>T (n.372+2271C>T) | dbSNP gnomAD v4 |
| 5 | g.149980623A>C | CA361706993 | SLC26A2 | c.1030A>C (p.Thr344Pro) c.372+2272A>C (n.372+2272A>C) | |
| 5 | g.149980623A>G | CA361706994 | SLC26A2 | c.1030A>G (p.Thr344Ala) c.372+2272A>G (n.372+2272A>G) | |
| 5 | g.149980623A>T | CA361706995 | SLC26A2 | c.1030A>T (p.Thr344Ser) c.372+2272A>T (n.372+2272A>T) | |
| 5 | g.149980624C>A | CA361706996 | SLC26A2 | c.1031C>A (p.Thr344Lys) c.372+2273C>A (n.372+2273C>A) | |
| 5 | g.149980624C= | CA1590738457 | SLC26A2 | c.1031C= (p.Thr344=) c.372+2273C= (n.372+2273C=) | |
| 5 | g.149980624C>G | CA361706997 | SLC26A2 | c.1031C>G (p.Thr344Arg) c.372+2273C>G (n.372+2273C>G) | |
| 5 | g.149980624C>T | CA361706998 | SLC26A2 | c.1031C>T (p.Thr344Ile) c.372+2273C>T (n.372+2273C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980625A= | CA1590738458 | SLC26A2 | c.1032A= (p.Thr344=) c.372+2274A= (n.372+2274A=) | |
| 5 | g.149980625A>C | CA447402253 | SLC26A2 | c.1032A>C (p.Thr344=) c.372+2274A>C (n.372+2274A>C) | |
| 5 | g.149980625A>G | CA447402254 | SLC26A2 | c.1032A>G (p.Thr344=) c.372+2274A>G (n.372+2274A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980625A>T | CA447402255 | SLC26A2 | c.1032A>T (p.Thr344=) c.372+2274A>T (n.372+2274A>T) | |
| 5 | g.149980626T>A | CA361706999 | SLC26A2 | c.1033T>A (p.Leu345Ile) c.372+2275T>A (n.372+2275T>A) | |
| 5 | g.149980626T>C | CA447402256 | SLC26A2 | c.1033T>C (p.Leu345=) c.372+2275T>C (n.372+2275T>C) | |
| 5 | g.149980626T>G | CA361707000 | SLC26A2 | c.1033T>G (p.Leu345Val) c.372+2275T>G (n.372+2275T>G) | |
| 5 | g.149980627T>A | CA361707001 | SLC26A2 | c.1034T>A (p.Leu345Ter) c.372+2276T>A (n.372+2276T>A) | ClinVar |
| 5 | g.149980627T>C | CA361707002 | SLC26A2 | c.1034T>C (p.Leu345Ser) c.372+2276T>C (n.372+2276T>C) | |
| 5 | g.149980627T>G | CA361707003 | SLC26A2 | c.1034T>G (p.Leu345Ter) c.372+2276T>G (n.372+2276T>G) | dbSNP |
| 5 | g.149980627T= | CA1590738459 | SLC26A2 | c.1034T= (p.Leu345=) c.372+2276T= (n.372+2276T=) | |
| 5 | g.149980628A>C | CA361707004 | SLC26A2 | c.1035A>C (p.Leu345Phe) c.372+2277A>C (n.372+2277A>C) | |
| 5 | g.149980628A>G | CA447402259 | SLC26A2 | c.1035A>G (p.Leu345=) c.372+2277A>G (n.372+2277A>G) | |
| 5 | g.149980628A>T | CA361707005 | SLC26A2 | c.1035A>T (p.Leu345Phe) c.372+2277A>T (n.372+2277A>T) |