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 |
|---|---|---|---|---|---|
| 20 | g.46016354T>A | CA409228329 | MMP9,SLC12A5-AS1 | c.2110T>A (p.Cys704Ser) n.669-1566A>T | |
| 20 | g.46016354T>C | CA409228330 | MMP9,SLC12A5-AS1 | c.2110T>C (p.Cys704Arg) n.669-1566A>G | |
| 20 | g.46016354T>G | CA409228328 | MMP9,SLC12A5-AS1 | c.2110T>G (p.Cys704Gly) n.669-1566A>C | gnomAD v4 |
| 20 | g.46016355G>A | CA409228331 | MMP9,SLC12A5-AS1 | c.2111G>A (p.Cys704Tyr) n.669-1567C>T | |
| 20 | g.46016355G>C | CA409228332 | MMP9,SLC12A5-AS1 | c.2111G>C (p.Cys704Ser) n.669-1567C>G | |
| 20 | g.46016355G>T | CA409228333 | MMP9,SLC12A5-AS1 | c.2111G>T (p.Cys704Phe) n.669-1567C>A | |
| 20 | g.46016356C>A | CA409228336 | MMP9,SLC12A5-AS1 | c.2112C>A (p.Cys704Ter) n.669-1568G>T | |
| 20 | g.46016356C>G | CA409228339 | MMP9,SLC12A5-AS1 | c.2112C>G (p.Cys704Trp) n.669-1568G>C | |
| 20 | g.46016356C>T | CA510650797 | MMP9,SLC12A5-AS1 | c.2112C>T (p.Cys704=) n.669-1568G>A | gnomAD v4 |
| 20 | g.46016356_46016359del | CA2741670588 | MMP9,SLC12A5-AS1 | c.2112_2115del (p.Cys704TrpfsTer?) n.669-1571_669-1568del | |
| 20 | g.46016357C>A | CA409228359 | MMP9,SLC12A5-AS1 | c.2113C>A (p.Pro705Thr) n.669-1569G>T | |
| 20 | g.46016357C>G | CA409228346 | MMP9,SLC12A5-AS1 | c.2113C>G (p.Pro705Ala) n.669-1569G>C | |
| 20 | g.46016357C>T | CA409228343 | MMP9,SLC12A5-AS1 | c.2113C>T (p.Pro705Ser) n.669-1569G>A | |
| 20 | g.46016358C>A | CA409228365 | MMP9,SLC12A5-AS1 | c.2114C>A (p.Pro705His) n.669-1570G>T | COSMIC |
| 20 | g.46016358C= | CA2366481094 | MMP9,SLC12A5-AS1 | c.2114C= (p.Pro705=) n.669-1570G= | |
| 20 | g.46016358C>G | CA409228367 | MMP9,SLC12A5-AS1 | c.2114C>G (p.Pro705Arg) n.669-1570G>C | gnomAD v4 |
| 20 | g.46016358C>T | CA409228369 | MMP9,SLC12A5-AS1 | c.2114C>T (p.Pro705Leu) n.669-1570G>A | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.46016359T>A | CA510650803 | MMP9,SLC12A5-AS1 | c.2115T>A (p.Pro705=) n.669-1571A>T | |
| 20 | g.46016359T>C | CA510650804 | MMP9,SLC12A5-AS1 | c.2115T>C (p.Pro705=) n.669-1571A>G | |
| 20 | g.46016359T>G | CA510650806 | MMP9,SLC12A5-AS1 | c.2115T>G (p.Pro705=) n.669-1571A>C | |
| 20 | g.46016360G>A | CA409228371 | MMP9,SLC12A5-AS1 | c.2116G>A (p.Glu706Lys) n.669-1572C>T | |
| 20 | g.46016360G>C | CA409228374 | MMP9,SLC12A5-AS1 | c.2116G>C (p.Glu706Gln) n.669-1572C>G | gnomAD v4 |
| 20 | g.46016360G>T | CA409228375 | MMP9,SLC12A5-AS1 | c.2116G>T (p.Glu706Ter) n.669-1572C>A | |
| 20 | g.46016361A>C | CA409228377 | MMP9,SLC12A5-AS1 | c.2117A>C (p.Glu706Ala) n.669-1573T>G | |
| 20 | g.46016361A>G | CA409228383 | MMP9,SLC12A5-AS1 | c.2117A>G (p.Glu706Gly) n.669-1573T>C | |
| 20 | g.46016361A>T | CA409228380 | MMP9,SLC12A5-AS1 | c.2117A>T (p.Glu706Val) n.669-1573T>A | |
| 20 | g.46016362G>A | CA510650812 | MMP9,SLC12A5-AS1 | c.2118G>A (p.Glu706=) n.669-1574C>T | gnomAD v4 |
| 20 | g.46016362G>C | CA409228389 | MMP9,SLC12A5-AS1 | c.2118G>C (p.Glu706Asp) n.669-1574C>G | |
| 20 | g.46016362G>T | CA409228393 | MMP9,SLC12A5-AS1 | c.2118G>T (p.Glu706Asp) n.669-1574C>A | gnomAD v4 |
| 20 | g.46016363G>A | CA409228403 | MMP9,SLC12A5-AS1 | c.2119G>A (p.Asp707Asn) n.669-1575C>T | dbSNP gnomAD v4 |
| 20 | g.46016363G>C | CA409228404 | MMP9,SLC12A5-AS1 | c.2119G>C (p.Asp707His) n.669-1575C>G | |
| 20 | g.46016363G>T | CA409228405 | MMP9,SLC12A5-AS1 | c.2119G>T (p.Asp707Tyr) n.669-1575C>A | |
| 20 | g.46016364A>C | CA409228408 | MMP9,SLC12A5-AS1 | c.2120A>C (p.Asp707Ala) n.669-1576T>G | |
| 20 | g.46016364A>G | CA409228410 | MMP9,SLC12A5-AS1 | c.2120A>G (p.Asp707Gly) n.669-1576T>C | |
| 20 | g.46016364A>T | CA409228413 | MMP9,SLC12A5-AS1 | c.2120A>T (p.Asp707Val) n.669-1576T>A | |
| 20 | g.46016365C>A | CA409228417 | MMP9,SLC12A5-AS1 | c.2121C>A (p.Asp707Glu) n.669-1577G>T | COSMIC |
| 20 | g.46016365C>G | CA409228422 | MMP9,SLC12A5-AS1 | c.2121C>G (p.Asp707Glu) n.669-1577G>C | gnomAD v4 |
| 20 | g.46016365C>T | CA510650822 | MMP9,SLC12A5-AS1 | c.2121C>T (p.Asp707=) n.669-1577G>A | |
| 20 | g.46016366T>A | CA409228439 | MMP9,SLC12A5-AS1 | c.2122T>A (p.Ter708Lys) n.669-1578A>T | |
| 20 | g.46016366T>C | CA409228435 | MMP9,SLC12A5-AS1 | c.2122T>C (p.Ter708Gln) n.669-1578A>G | |
| 20 | g.46016366T>G | CA409228427 | MMP9,SLC12A5-AS1 | c.2122T>G (p.Ter708Glu) n.669-1578A>C | |
| 20 | g.46016367A>C | CA409228444 | MMP9,SLC12A5-AS1 | c.2123A>C (p.Ter708Ser) n.669-1579T>G | |
| 20 | g.46016367A>G | CA409228460 | MMP9,SLC12A5-AS1 | c.2123A>G (p.Ter708Trp) n.669-1579T>C | |
| 20 | g.46016367A>T | CA409228448 | MMP9,SLC12A5-AS1 | c.2123A>T (p.Ter708Leu) n.669-1579T>A | |
| 20 | g.46016368G>A | CA510650826 | MMP9,SLC12A5-AS1 | c.2124G>A (p.Ter708=) n.669-1580C>T | |
| 20 | g.46016368G>C | CA409228461 | MMP9,SLC12A5-AS1 | c.2124G>C (p.Ter708Tyr) n.669-1580C>G | |
| 20 | g.46016368G>T | CA409228466 | MMP9,SLC12A5-AS1 | c.2124G>T (p.Ter708Tyr) n.669-1580C>A | |
| 20 | g.46016369G>C | CA2577413893 | MMP9,SLC12A5-AS1 | c.*1G>C (n.*1G>C) n.669-1581C>G | |
| 20 | g.46016370G>A | CA9886902 | MMP9,SLC12A5-AS1 | c.*2G>A (n.*2G>A) n.669-1582C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.46016370G= | CA2366481095 | MMP9,SLC12A5-AS1 | c.*2G= (n.*2G=) n.669-1582C= |