WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.7582933_7587670delinsAGAACAGTCTT | CA2580075482 | ClinVar | ||
| 6 | g.7582933_7587670delinsAGAGAAGAACAGTCTT | CA915944145 | ClinVar | ||
| 6 | g.7582934_7587655del | CA2695202641 | |||
| 6 | g.7583301_7585800del | CA006686 | DSP | c.4710_7209del (p.Gly1571GlufsTer?) c.6039_8538del (p.Gly2014GlufsTer?) c.4242_6741del (p.Gly1415GlufsTer?) | |
| 6 | g.7584358_7584365del | CA2695205961 | DSP | c.5767_5774del (p.Leu1924SerfsTer10) c.7096_7103del (p.Leu2367SerfsTer10) c.5299_5306del (p.Leu1768SerfsTer10) | |
| 6 | g.7584359G>A | CA007120 | DSP | c.5768G>A (p.Arg1923His) c.7097G>A (p.Arg2366His) c.5300G>A (p.Arg1767His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.7584359G>C | CA362692228 | DSP | c.5768G>C (p.Arg1923Pro) c.7097G>C (p.Arg2366Pro) c.5300G>C (p.Arg1767Pro) | |
| 6 | g.7584359G= | CA1608611006 | DSP | c.5768G= (p.Arg1923=) c.7097G= (p.Arg2366=) c.5300G= (p.Arg1767=) | |
| 6 | g.7584359G>T | CA362692229 | DSP | c.5768G>T (p.Arg1923Leu) c.7097G>T (p.Arg2366Leu) c.5300G>T (p.Arg1767Leu) | |
| 6 | g.7584360C>A | CA448716298 | DSP | c.5769C>A (p.Arg1923=) c.7098C>A (p.Arg2366=) c.5301C>A (p.Arg1767=) | |
| 6 | g.7584360C>G | CA448716301 | DSP | c.5769C>G (p.Arg1923=) c.7098C>G (p.Arg2366=) c.5301C>G (p.Arg1767=) | |
| 6 | g.7584360C>T | CA448716302 | DSP | c.5769C>T (p.Arg1923=) c.7098C>T (p.Arg2366=) c.5301C>T (p.Arg1767=) | gnomAD v4 COSMIC |
| 6 | g.7584361T>A | CA362692230 | DSP | c.5770T>A (p.Leu1924Ile) c.7099T>A (p.Leu2367Ile) c.5302T>A (p.Leu1768Ile) | |
| 6 | g.7584361T>C | CA448716303 | DSP | c.5770T>C (p.Leu1924=) c.7099T>C (p.Leu2367=) c.5302T>C (p.Leu1768=) | gnomAD v4 |
| 6 | g.7584361T>G | CA362692231 | DSP | c.5770T>G (p.Leu1924Val) c.7099T>G (p.Leu2367Val) c.5302T>G (p.Leu1768Val) | |
| 6 | g.7584362T>A | CA362692232 | DSP | c.5771T>A (p.Leu1924Ter) c.7100T>A (p.Leu2367Ter) c.5303T>A (p.Leu1768Ter) | |
| 6 | g.7584362T>C | CA362692234 | DSP | c.5771T>C (p.Leu1924Ser) c.7100T>C (p.Leu2367Ser) c.5303T>C (p.Leu1768Ser) | |
| 6 | g.7584362T>G | CA362692233 | DSP | c.5771T>G (p.Leu1924Ter) c.7100T>G (p.Leu2367Ter) c.5303T>G (p.Leu1768Ter) | |
| 6 | g.7584362_7584368delinsTATTAGA | CA1608611014 | DSP | c.5771_5777delinsTATTAGA (p.Leu1924=) c.7100_7106delinsTATTAGA (p.Leu2367=) c.5303_5309delinsTATTAGA (p.Leu1768=) | |
| 6 | g.7584363A>C | CA362692235 | DSP | c.5772A>C (p.Leu1924Phe) c.7101A>C (p.Leu2367Phe) c.5304A>C (p.Leu1768Phe) | |
| 6 | g.7584363A>G | CA448716312 | DSP | c.5772A>G (p.Leu1924=) c.7101A>G (p.Leu2367=) c.5304A>G (p.Leu1768=) | |
| 6 | g.7584363A>T | CA362692236 | DSP | c.5772A>T (p.Leu1924Phe) c.7101A>T (p.Leu2367Phe) c.5304A>T (p.Leu1768Phe) | |
| 6 | g.7584364_7584369del | CA1608611018 | DSP | c.5773_5778del (p.Leu1925_Glu1926del) c.7102_7107del (p.Leu2368_Glu2369del) c.5305_5310del (p.Leu1769_Glu1770del) | dbSNP |
| 6 | g.7584364T>A | CA362692237 | DSP | c.5773T>A (p.Leu1925Ile) c.7102T>A (p.Leu2368Ile) c.5305T>A (p.Leu1769Ile) | |
| 6 | g.7584364T>C | CA448716316 | DSP | c.5773T>C (p.Leu1925=) c.7102T>C (p.Leu2368=) c.5305T>C (p.Leu1769=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.7584364T>G | CA362692238 | DSP | c.5773T>G (p.Leu1925Val) c.7102T>G (p.Leu2368Val) c.5305T>G (p.Leu1769Val) | |
| 6 | g.7584364T= | CA1608611022 | DSP | c.5773T= (p.Leu1925=) c.7102T= (p.Leu2368=) c.5305T= (p.Leu1769=) | |
| 6 | g.7584365T>A | CA362692239 | DSP | c.5774T>A (p.Leu1925Ter) c.7103T>A (p.Leu2368Ter) c.5306T>A (p.Leu1769Ter) | |
| 6 | g.7584365T>C | CA362692240 | DSP | c.5774T>C (p.Leu1925Ser) c.7103T>C (p.Leu2368Ser) c.5306T>C (p.Leu1769Ser) | COSMIC |
| 6 | g.7584365T>G | CA362692241 | DSP | c.5774T>G (p.Leu1925Ter) c.7103T>G (p.Leu2368Ter) c.5306T>G (p.Leu1769Ter) | |
| 6 | g.7584366A>C | CA362692242 | DSP | c.5775A>C (p.Leu1925Phe) c.7104A>C (p.Leu2368Phe) c.5307A>C (p.Leu1769Phe) | |
| 6 | g.7584366A>G | CA448716323 | DSP | c.5775A>G (p.Leu1925=) c.7104A>G (p.Leu2368=) c.5307A>G (p.Leu1769=) | |
| 6 | g.7584366A>T | CA362692243 | DSP | c.5775A>T (p.Leu1925Phe) c.7104A>T (p.Leu2368Phe) c.5307A>T (p.Leu1769Phe) | |
| 6 | g.7584367G>A | CA362692244 | DSP | c.5776G>A (p.Glu1926Lys) c.7105G>A (p.Glu2369Lys) c.5308G>A (p.Glu1770Lys) | ClinVar COSMIC |
| 6 | g.7584367G>C | CA362692245 | DSP | c.5776G>C (p.Glu1926Gln) c.7105G>C (p.Glu2369Gln) c.5308G>C (p.Glu1770Gln) | |
| 6 | g.7584367G>T | CA362692246 | DSP | c.5776G>T (p.Glu1926Ter) c.7105G>T (p.Glu2369Ter) c.5308G>T (p.Glu1770Ter) | |
| 6 | g.7584368A>C | CA362692247 | DSP | c.5777A>C (p.Glu1926Ala) c.7106A>C (p.Glu2369Ala) c.5309A>C (p.Glu1770Ala) | |
| 6 | g.7584368A>G | CA362692248 | DSP | c.5777A>G (p.Glu1926Gly) c.7106A>G (p.Glu2369Gly) c.5309A>G (p.Glu1770Gly) | gnomAD v4 |
| 6 | g.7584368A>T | CA362692249 | DSP | c.5777A>T (p.Glu1926Val) c.7106A>T (p.Glu2369Val) c.5309A>T (p.Glu1770Val) | |
| 6 | g.7584369A>C | CA362692250 | DSP | c.5778A>C (p.Glu1926Asp) c.7107A>C (p.Glu2369Asp) c.5310A>C (p.Glu1770Asp) | |
| 6 | g.7584369A>G | CA448716337 | DSP | c.5778A>G (p.Glu1926=) c.7107A>G (p.Glu2369=) c.5310A>G (p.Glu1770=) | |
| 6 | g.7584369A>T | CA362692251 | DSP | c.5778A>T (p.Glu1926Asp) c.7107A>T (p.Glu2369Asp) c.5310A>T (p.Glu1770Asp) | |
| 6 | g.7584370G>A | CA362692252 | DSP | c.5779G>A (p.Ala1927Thr) c.7108G>A (p.Ala2370Thr) c.5311G>A (p.Ala1771Thr) | |
| 6 | g.7584370G>C | CA362692253 | DSP | c.5779G>C (p.Ala1927Pro) c.7108G>C (p.Ala2370Pro) c.5311G>C (p.Ala1771Pro) | |
| 6 | g.7584370G>T | CA362692254 | DSP | c.5779G>T (p.Ala1927Ser) c.7108G>T (p.Ala2370Ser) c.5311G>T (p.Ala1771Ser) | |
| 6 | g.7584371C>A | CA362692255 | DSP | c.5780C>A (p.Ala1927Glu) c.7109C>A (p.Ala2370Glu) c.5312C>A (p.Ala1771Glu) | |
| 6 | g.7584371C>G | CA362692256 | DSP | c.5780C>G (p.Ala1927Gly) c.7109C>G (p.Ala2370Gly) c.5312C>G (p.Ala1771Gly) | |
| 6 | g.7584371C>T | CA362692257 | DSP | c.5780C>T (p.Ala1927Val) c.7109C>T (p.Ala2370Val) c.5312C>T (p.Ala1771Val) | |
| 6 | g.7584372A>C | CA448716350 | DSP | c.5781A>C (p.Ala1927=) c.7110A>C (p.Ala2370=) c.5313A>C (p.Ala1771=) | |
| 6 | g.7584372A>G | CA448716351 | DSP | c.5781A>G (p.Ala1927=) c.7110A>G (p.Ala2370=) c.5313A>G (p.Ala1771=) |