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 |
|---|---|---|---|---|---|
| 12 | g.1780560C>A | CA478097001 | ADIPOR2 | c.573C>A (p.Ala191=) n.413C>A c.463+2535C>A (n.463+2535C>A) | |
| 12 | g.1780560C>G | CA478097000 | ADIPOR2 | c.573C>G (p.Ala191=) n.413C>G c.463+2535C>G (n.463+2535C>G) | |
| 12 | g.1780560C>T | CA478097002 | ADIPOR2 | c.573C>T (p.Ala191=) n.413C>T c.463+2535C>T (n.463+2535C>T) | |
| 12 | g.1780561A>C | CA383652217 | ADIPOR2 | c.574A>C (p.Ile192Leu) n.414A>C c.463+2536A>C (n.463+2536A>C) | |
| 12 | g.1780561A>G | CA383652218 | ADIPOR2 | c.574A>G (p.Ile192Val) n.414A>G c.463+2536A>G (n.463+2536A>G) | gnomAD v4 |
| 12 | g.1780561A>T | CA383652219 | ADIPOR2 | c.574A>T (p.Ile192Phe) n.414A>T c.463+2536A>T (n.463+2536A>T) | |
| 12 | g.1780562T>A | CA383652222 | ADIPOR2 | c.575T>A (p.Ile192Asn) n.415T>A c.463+2537T>A (n.463+2537T>A) | |
| 12 | g.1780562T>C | CA383652221 | ADIPOR2 | c.575T>C (p.Ile192Thr) n.415T>C c.463+2537T>C (n.463+2537T>C) | |
| 12 | g.1780562T>G | CA383652220 | ADIPOR2 | c.575T>G (p.Ile192Ser) n.415T>G c.463+2537T>G (n.463+2537T>G) | |
| 12 | g.1780563T>A | CA478097004 | ADIPOR2 | c.576T>A (p.Ile192=) n.416T>A c.463+2538T>A (n.463+2538T>A) | |
| 12 | g.1780563T>C | CA478097003 | ADIPOR2 | c.576T>C (p.Ile192=) n.416T>C c.463+2538T>C (n.463+2538T>C) | |
| 12 | g.1780563T>G | CA383652223 | ADIPOR2 | c.576T>G (p.Ile192Met) n.416T>G c.463+2538T>G (n.463+2538T>G) | |
| 12 | g.1780564C>A | CA383652225 | ADIPOR2 | c.577C>A (p.Leu193Ile) n.417C>A c.463+2539C>A (n.463+2539C>A) | |
| 12 | g.1780564C= | CA2012138927 | ADIPOR2 | c.577C= (p.Leu193=) n.417C= c.463+2539C= (n.463+2539C=) | |
| 12 | g.1780564C>G | CA383652224 | ADIPOR2 | c.577C>G (p.Leu193Val) n.417C>G c.463+2539C>G (n.463+2539C>G) | gnomAD v4 COSMIC |
| 12 | g.1780564C>T | CA231905331 | ADIPOR2 | c.577C>T (p.Leu193Phe) n.417C>T c.463+2539C>T (n.463+2539C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.1780565T>A | CA383652226 | ADIPOR2 | c.578T>A (p.Leu193His) n.418T>A c.463+2540T>A (n.463+2540T>A) | |
| 12 | g.1780565T>C | CA383652227 | ADIPOR2 | c.578T>C (p.Leu193Pro) n.418T>C c.463+2540T>C (n.463+2540T>C) | |
| 12 | g.1780565T>G | CA383652228 | ADIPOR2 | c.578T>G (p.Leu193Arg) n.418T>G c.463+2540T>G (n.463+2540T>G) | |
| 12 | g.1780566C>A | CA478097005 | ADIPOR2 | c.579C>A (p.Leu193=) n.419C>A c.463+2541C>A (n.463+2541C>A) | |
| 12 | g.1780566C= | CA2012138928 | ADIPOR2 | c.579C= (p.Leu193=) n.419C= c.463+2541C= (n.463+2541C=) | |
| 12 | g.1780566C>G | CA478097006 | ADIPOR2 | c.579C>G (p.Leu193=) n.419C>G c.463+2541C>G (n.463+2541C>G) | |
| 12 | g.1780566C>T | CA6385761 | ADIPOR2 | c.579C>T (p.Leu193=) n.419C>T c.463+2541C>T (n.463+2541C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.1780567T>A | CA383652229 | ADIPOR2 | c.580T>A (p.Cys194Ser) n.420T>A c.463+2542T>A (n.463+2542T>A) | |
| 12 | g.1780567T>C | CA383652230 | ADIPOR2 | c.580T>C (p.Cys194Arg) n.420T>C c.463+2542T>C (n.463+2542T>C) | gnomAD v4 |
| 12 | g.1780567T>G | CA383652231 | ADIPOR2 | c.580T>G (p.Cys194Gly) n.420T>G c.463+2542T>G (n.463+2542T>G) | |
| 12 | g.1780568G>A | CA383652232 | ADIPOR2 | c.581G>A (p.Cys194Tyr) n.421G>A c.463+2543G>A (n.463+2543G>A) | |
| 12 | g.1780568G>C | CA383652233 | ADIPOR2 | c.581G>C (p.Cys194Ser) n.421G>C c.463+2543G>C (n.463+2543G>C) | |
| 12 | g.1780568G>T | CA383652234 | ADIPOR2 | c.581G>T (p.Cys194Phe) n.421G>T c.463+2543G>T (n.463+2543G>T) | COSMIC |
| 12 | g.1780569C>A | CA383652236 | ADIPOR2 | c.582C>A (p.Cys194Ter) n.422C>A c.463+2544C>A (n.463+2544C>A) | |
| 12 | g.1780569C>G | CA383652235 | ADIPOR2 | c.582C>G (p.Cys194Trp) n.422C>G c.463+2544C>G (n.463+2544C>G) | |
| 12 | g.1780569C>T | CA478097007 | ADIPOR2 | c.582C>T (p.Cys194=) n.422C>T c.463+2544C>T (n.463+2544C>T) | |
| 12 | g.1780570C>A | CA383652237 | ADIPOR2 | c.583C>A (p.Leu195Ile) n.423C>A c.463+2545C>A (n.463+2545C>A) | |
| 12 | g.1780570C>G | CA383652238 | ADIPOR2 | c.583C>G (p.Leu195Val) n.423C>G c.463+2545C>G (n.463+2545C>G) | |
| 12 | g.1780570C>T | CA383652239 | ADIPOR2 | c.583C>T (p.Leu195Phe) n.423C>T c.463+2545C>T (n.463+2545C>T) | |
| 12 | g.1780571T>A | CA383652240 | ADIPOR2 | c.584T>A (p.Leu195His) n.424T>A c.463+2546T>A (n.463+2546T>A) | |
| 12 | g.1780571T>C | CA6385762 | ADIPOR2 | c.584T>C (p.Leu195Pro) n.424T>C c.463+2546T>C (n.463+2546T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.1780571T>G | CA383652241 | ADIPOR2 | c.584T>G (p.Leu195Arg) n.424T>G c.463+2546T>G (n.463+2546T>G) | |
| 12 | g.1780571T= | CA2012138929 | ADIPOR2 | c.584T= (p.Leu195=) n.424T= c.463+2546T= (n.463+2546T=) | |
| 12 | g.1780572T>A | CA478097010 | ADIPOR2 | c.585T>A (p.Leu195=) n.425T>A c.463+2547T>A (n.463+2547T>A) | |
| 12 | g.1780572T>C | CA478097009 | ADIPOR2 | c.585T>C (p.Leu195=) n.425T>C c.463+2547T>C (n.463+2547T>C) | |
| 12 | g.1780572T>G | CA478097008 | ADIPOR2 | c.585T>G (p.Leu195=) n.425T>G c.463+2547T>G (n.463+2547T>G) | |
| 12 | g.1780573T>A | CA383652242 | ADIPOR2 | c.586T>A (p.Ser196Thr) n.426T>A c.463+2548T>A (n.463+2548T>A) | |
| 12 | g.1780573T>C | CA383652243 | ADIPOR2 | c.586T>C (p.Ser196Pro) n.426T>C c.463+2548T>C (n.463+2548T>C) | |
| 12 | g.1780573T>G | CA383652244 | ADIPOR2 | c.586T>G (p.Ser196Ala) n.426T>G c.463+2548T>G (n.463+2548T>G) | |
| 12 | g.1780574del | CA2617036086 | ADIPOR2 | c.587del (p.Ser196PhefsTer?) n.427del c.463+2549del (n.463+2549del) | gnomAD v4 |
| 12 | g.1780574C>A | CA383652245 | ADIPOR2 | c.587C>A (p.Ser196Tyr) n.427C>A c.463+2549C>A (n.463+2549C>A) | |
| 12 | g.1780574C= | CA2012138930 | ADIPOR2 | c.587C= (p.Ser196=) n.427C= c.463+2549C= (n.463+2549C=) | |
| 12 | g.1780574C>G | CA383652246 | ADIPOR2 | c.587C>G (p.Ser196Cys) n.427C>G c.463+2549C>G (n.463+2549C>G) | dbSNP |
| 12 | g.1780574C>T | CA383652247 | ADIPOR2 | c.587C>T (p.Ser196Phe) n.427C>T c.463+2549C>T (n.463+2549C>T) |