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 |
|---|---|---|---|---|---|
| 7 | g.107915581G>A | CA368857011 | DLD | c.760G>A (p.Asp254Asn) c.*434G>A (n.*434G>A) c.616G>A (p.Asp206Asn) c.691G>A (p.Asp231Asn) c.*503G>A (n.*503G>A) c.463G>A (p.Asp155Asn) | COSMIC COSMIC |
| 7 | g.107915581G>C | CA368857013 | DLD | c.760G>C (p.Asp254His) c.*434G>C (n.*434G>C) c.616G>C (p.Asp206His) c.691G>C (p.Asp231His) c.*503G>C (n.*503G>C) c.463G>C (p.Asp155His) | |
| 7 | g.107915581G>T | CA368857015 | DLD | c.760G>T (p.Asp254Tyr) c.*434G>T (n.*434G>T) c.616G>T (p.Asp206Tyr) c.691G>T (p.Asp231Tyr) c.*503G>T (n.*503G>T) c.463G>T (p.Asp155Tyr) | |
| 7 | g.107915582A>C | CA368857018 | DLD | c.761A>C (p.Asp254Ala) c.*435A>C (n.*435A>C) c.617A>C (p.Asp206Ala) c.692A>C (p.Asp231Ala) c.*504A>C (n.*504A>C) c.464A>C (p.Asp155Ala) | |
| 7 | g.107915582A>G | CA368857019 | DLD | c.761A>G (p.Asp254Gly) c.*435A>G (n.*435A>G) c.617A>G (p.Asp206Gly) c.692A>G (p.Asp231Gly) c.*504A>G (n.*504A>G) c.464A>G (p.Asp155Gly) | |
| 7 | g.107915582A>T | CA368857017 | DLD | c.761A>T (p.Asp254Val) c.*435A>T (n.*435A>T) c.617A>T (p.Asp206Val) c.692A>T (p.Asp231Val) c.*504A>T (n.*504A>T) c.464A>T (p.Asp155Val) | gnomAD v4 |
| 7 | g.107915584_107915585del | CA2684464842 | DLD | c.763_764del (p.Met255GlyfsTer4) c.*437_*438del (n.*437_*438del) c.619_620del (p.Met207GlyfsTer4) c.694_695del (p.Met232GlyfsTer4) c.*506_*507del (n.*506_*507del) c.466_467del (p.Met156GlyfsTer4) | gnomAD v4 |
| 7 | g.107915583T>A | CA368857023 | DLD | c.762T>A (p.Asp254Glu) c.*436T>A (n.*436T>A) c.618T>A (p.Asp206Glu) c.693T>A (p.Asp231Glu) c.*505T>A (n.*505T>A) c.465T>A (p.Asp155Glu) | |
| 7 | g.107915583T>C | CA457108790 | DLD | c.762T>C (p.Asp254=) c.*436T>C (n.*436T>C) c.618T>C (p.Asp206=) c.693T>C (p.Asp231=) c.*505T>C (n.*505T>C) c.465T>C (p.Asp155=) | |
| 7 | g.107915583T>G | CA368857021 | DLD | c.762T>G (p.Asp254Glu) c.*436T>G (n.*436T>G) c.618T>G (p.Asp206Glu) c.693T>G (p.Asp231Glu) c.*505T>G (n.*505T>G) c.465T>G (p.Asp155Glu) | |
| 7 | g.107915584A= | CA1732859331 | DLD | c.763A= (p.Met255=) c.*437A= (n.*437A=) c.619A= (p.Met207=) c.694A= (p.Met232=) c.*506A= (n.*506A=) c.466A= (p.Met156=) | |
| 7 | g.107915584A>C | CA312464 | DLD | c.763A>C (p.Met255Leu) c.*437A>C (n.*437A>C) c.619A>C (p.Met207Leu) c.694A>C (p.Met232Leu) c.*506A>C (n.*506A>C) c.466A>C (p.Met156Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915584A>G | CA368857025 | DLD | c.763A>G (p.Met255Val) c.*437A>G (n.*437A>G) c.619A>G (p.Met207Val) c.694A>G (p.Met232Val) c.*506A>G (n.*506A>G) c.466A>G (p.Met156Val) | |
| 7 | g.107915584A>T | CA164257674 | DLD | c.763A>T (p.Met255Leu) c.*437A>T (n.*437A>T) c.619A>T (p.Met207Leu) c.694A>T (p.Met232Leu) c.*506A>T (n.*506A>T) c.466A>T (p.Met156Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915585T>A | CA368857029 | DLD | c.764T>A (p.Met255Lys) c.*438T>A (n.*438T>A) c.620T>A (p.Met207Lys) c.695T>A (p.Met232Lys) c.*507T>A (n.*507T>A) c.467T>A (p.Met156Lys) | |
| 7 | g.107915585T>C | CA164257687 | DLD | c.764T>C (p.Met255Thr) c.*438T>C (n.*438T>C) c.620T>C (p.Met207Thr) c.695T>C (p.Met232Thr) c.*507T>C (n.*507T>C) c.467T>C (p.Met156Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915585T>G | CA368857032 | DLD | c.764T>G (p.Met255Arg) c.*438T>G (n.*438T>G) c.620T>G (p.Met207Arg) c.695T>G (p.Met232Arg) c.*507T>G (n.*507T>G) c.467T>G (p.Met156Arg) | gnomAD v4 |
| 7 | g.107915585T= | CA1732859332 | DLD | c.764T= (p.Met255=) c.*438T= (n.*438T=) c.620T= (p.Met207=) c.695T= (p.Met232=) c.*507T= (n.*507T=) c.467T= (p.Met156=) | |
| 7 | g.107915586G>A | CA368857034 | DLD | c.765G>A (p.Met255Ile) c.*439G>A (n.*439G>A) c.621G>A (p.Met207Ile) c.696G>A (p.Met232Ile) c.*508G>A (n.*508G>A) c.468G>A (p.Met156Ile) | ClinVar |
| 7 | g.107915586G>C | CA368857037 | DLD | c.765G>C (p.Met255Ile) c.*439G>C (n.*439G>C) c.621G>C (p.Met207Ile) c.696G>C (p.Met232Ile) c.*508G>C (n.*508G>C) c.468G>C (p.Met156Ile) | |
| 7 | g.107915586G>T | CA368857038 | DLD | c.765G>T (p.Met255Ile) c.*439G>T (n.*439G>T) c.621G>T (p.Met207Ile) c.696G>T (p.Met232Ile) c.*508G>T (n.*508G>T) c.468G>T (p.Met156Ile) | |
| 7 | g.107915587G>A | CA368857041 | DLD | c.766G>A (p.Glu256Lys) c.*440G>A (n.*440G>A) c.622G>A (p.Glu208Lys) c.697G>A (p.Glu233Lys) c.*509G>A (n.*509G>A) c.469G>A (p.Glu157Lys) | |
| 7 | g.107915587G>C | CA368857042 | DLD | c.766G>C (p.Glu256Gln) c.*440G>C (n.*440G>C) c.622G>C (p.Glu208Gln) c.697G>C (p.Glu233Gln) c.*509G>C (n.*509G>C) c.469G>C (p.Glu157Gln) | |
| 7 | g.107915587G>T | CA368857043 | DLD | c.766G>T (p.Glu256Ter) c.*440G>T (n.*440G>T) c.622G>T (p.Glu208Ter) c.697G>T (p.Glu233Ter) c.*509G>T (n.*509G>T) c.469G>T (p.Glu157Ter) | |
| 7 | g.107915588A= | CA1732859333 | DLD | c.767A= (p.Glu256=) c.*441A= (n.*441A=) c.623A= (p.Glu208=) c.698A= (p.Glu233=) c.*510A= (n.*510A=) c.470A= (p.Glu157=) | |
| 7 | g.107915588A>C | CA368857044 | DLD | c.767A>C (p.Glu256Ala) c.*441A>C (n.*441A>C) c.623A>C (p.Glu208Ala) c.698A>C (p.Glu233Ala) c.*510A>C (n.*510A>C) c.470A>C (p.Glu157Ala) | |
| 7 | g.107915588A>G | CA368857045 | DLD | c.767A>G (p.Glu256Gly) c.*441A>G (n.*441A>G) c.623A>G (p.Glu208Gly) c.698A>G (p.Glu233Gly) c.*510A>G (n.*510A>G) c.470A>G (p.Glu157Gly) | |
| 7 | g.107915588A>T | CA368857046 | DLD | c.767A>T (p.Glu256Val) c.*441A>T (n.*441A>T) c.623A>T (p.Glu208Val) c.698A>T (p.Glu233Val) c.*510A>T (n.*510A>T) c.470A>T (p.Glu157Val) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915589G>A | CA457108792 | DLD | c.768G>A (p.Glu256=) c.*442G>A (n.*442G>A) c.624G>A (p.Glu208=) c.699G>A (p.Glu233=) c.*511G>A (n.*511G>A) c.471G>A (p.Glu157=) | |
| 7 | g.107915589G>C | CA368857048 | DLD | c.768G>C (p.Glu256Asp) c.*442G>C (n.*442G>C) c.624G>C (p.Glu208Asp) c.699G>C (p.Glu233Asp) c.*511G>C (n.*511G>C) c.471G>C (p.Glu157Asp) | |
| 7 | g.107915589G= | CA1732859334 | DLD | c.768G= (p.Glu256=) c.*442G= (n.*442G=) c.624G= (p.Glu208=) c.699G= (p.Glu233=) c.*511G= (n.*511G=) c.471G= (p.Glu157=) | |
| 7 | g.107915589G>T | CA4434556 | DLD | c.768G>T (p.Glu256Asp) c.*442G>T (n.*442G>T) c.624G>T (p.Glu208Asp) c.699G>T (p.Glu233Asp) c.*511G>T (n.*511G>T) c.471G>T (p.Glu157Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.107915590A= | CA1732859335 | DLD | c.769A= (p.Ile257=) c.*443A= (n.*443A=) c.625A= (p.Ile209=) c.700A= (p.Ile234=) c.*512A= (n.*512A=) c.472A= (p.Ile158=) | |
| 7 | g.107915590A>C | CA368857051 | DLD | c.769A>C (p.Ile257Leu) c.*443A>C (n.*443A>C) c.625A>C (p.Ile209Leu) c.700A>C (p.Ile234Leu) c.*512A>C (n.*512A>C) c.472A>C (p.Ile158Leu) | |
| 7 | g.107915590A>G | CA368857050 | DLD | c.769A>G (p.Ile257Val) c.*443A>G (n.*443A>G) c.625A>G (p.Ile209Val) c.700A>G (p.Ile234Val) c.*512A>G (n.*512A>G) c.472A>G (p.Ile158Val) | |
| 7 | g.107915590A>T | CA368857049 | DLD | c.769A>T (p.Ile257Leu) c.*443A>T (n.*443A>T) c.625A>T (p.Ile209Leu) c.700A>T (p.Ile234Leu) c.*512A>T (n.*512A>T) c.472A>T (p.Ile158Leu) | dbSNP |
| 7 | g.107915591T>A | CA368857053 | DLD | c.770T>A (p.Ile257Lys) c.*444T>A (n.*444T>A) c.626T>A (p.Ile209Lys) c.701T>A (p.Ile234Lys) c.*513T>A (n.*513T>A) c.473T>A (p.Ile158Lys) | |
| 7 | g.107915591T>C | CA368857054 | DLD | c.770T>C (p.Ile257Thr) c.*444T>C (n.*444T>C) c.626T>C (p.Ile209Thr) c.701T>C (p.Ile234Thr) c.*513T>C (n.*513T>C) c.473T>C (p.Ile158Thr) | gnomAD v4 |
| 7 | g.107915591T>G | CA368857056 | DLD | c.770T>G (p.Ile257Arg) c.*444T>G (n.*444T>G) c.626T>G (p.Ile209Arg) c.701T>G (p.Ile234Arg) c.*513T>G (n.*513T>G) c.473T>G (p.Ile158Arg) | |
| 7 | g.107915592A>C | CA457108795 | DLD | c.771A>C (p.Ile257=) c.*445A>C (n.*445A>C) c.627A>C (p.Ile209=) c.702A>C (p.Ile234=) c.*514A>C (n.*514A>C) c.474A>C (p.Ile158=) | |
| 7 | g.107915592A>G | CA368857058 | DLD | c.771A>G (p.Ile257Met) c.*445A>G (n.*445A>G) c.627A>G (p.Ile209Met) c.702A>G (p.Ile234Met) c.*514A>G (n.*514A>G) c.474A>G (p.Ile158Met) | |
| 7 | g.107915592A>T | CA457108796 | DLD | c.771A>T (p.Ile257=) c.*445A>T (n.*445A>T) c.627A>T (p.Ile209=) c.702A>T (p.Ile234=) c.*514A>T (n.*514A>T) c.474A>T (p.Ile158=) | |
| 7 | g.107915593T>A | CA4434557 | DLD | c.772T>A (p.Ser258Thr) c.*446T>A (n.*446T>A) c.628T>A (p.Ser210Thr) c.703T>A (p.Ser235Thr) c.*515T>A (n.*515T>A) c.475T>A (p.Ser159Thr) | dbSNP ExAC gnomAD v2 |
| 7 | g.107915593T>C | CA368857060 | DLD | c.772T>C (p.Ser258Pro) c.*446T>C (n.*446T>C) c.628T>C (p.Ser210Pro) c.703T>C (p.Ser235Pro) c.*515T>C (n.*515T>C) c.475T>C (p.Ser159Pro) | gnomAD v4 |
| 7 | g.107915593T>G | CA368857062 | DLD | c.772T>G (p.Ser258Ala) c.*446T>G (n.*446T>G) c.628T>G (p.Ser210Ala) c.703T>G (p.Ser235Ala) c.*515T>G (n.*515T>G) c.475T>G (p.Ser159Ala) | |
| 7 | g.107915593T= | CA1732859336 | DLD | c.772T= (p.Ser258=) c.*446T= (n.*446T=) c.628T= (p.Ser210=) c.703T= (p.Ser235=) c.*515T= (n.*515T=) c.475T= (p.Ser159=) | |
| 7 | g.107915594C>A | CA368857063 | DLD | c.773C>A (p.Ser258Tyr) c.*447C>A (n.*447C>A) c.629C>A (p.Ser210Tyr) c.704C>A (p.Ser235Tyr) c.*516C>A (n.*516C>A) c.476C>A (p.Ser159Tyr) | |
| 7 | g.107915594C= | CA1732859337 | DLD | c.773C= (p.Ser258=) c.*447C= (n.*447C=) c.629C= (p.Ser210=) c.704C= (p.Ser235=) c.*516C= (n.*516C=) c.476C= (p.Ser159=) | |
| 7 | g.107915594C>G | CA164257698 | DLD | c.773C>G (p.Ser258Cys) c.*447C>G (n.*447C>G) c.629C>G (p.Ser210Cys) c.704C>G (p.Ser235Cys) c.*516C>G (n.*516C>G) c.476C>G (p.Ser159Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915594C>T | CA368857064 | DLD | c.773C>T (p.Ser258Phe) c.*447C>T (n.*447C>T) c.629C>T (p.Ser210Phe) c.704C>T (p.Ser235Phe) c.*516C>T (n.*516C>T) c.476C>T (p.Ser159Phe) |