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 |
|---|---|---|---|---|---|
| 7 | g.107915506G>A | CA368856708 | DLD | c.685G>A (p.Gly229Ser) c.*359G>A (n.*359G>A) c.541G>A (p.Gly181Ser) c.616G>A (p.Gly206Ser) c.*428G>A (n.*428G>A) c.388G>A (p.Gly130Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 7 | g.107915506G>C | CA368856709 | DLD | c.685G>C (p.Gly229Arg) c.*359G>C (n.*359G>C) c.541G>C (p.Gly181Arg) c.616G>C (p.Gly206Arg) c.*428G>C (n.*428G>C) c.388G>C (p.Gly130Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915506G= | CA1732859306 | DLD | c.685G= (p.Gly229=) c.*359G= (n.*359G=) c.541G= (p.Gly181=) c.616G= (p.Gly206=) c.*428G= (n.*428G=) c.388G= (p.Gly130=) | |
| 7 | g.107915506G>T | CA312461 | DLD | c.685G>T (p.Gly229Cys) c.*359G>T (n.*359G>T) c.541G>T (p.Gly181Cys) c.616G>T (p.Gly206Cys) c.*428G>T (n.*428G>T) c.388G>T (p.Gly130Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915507G>A | CA368856710 | DLD | c.686G>A (p.Gly229Asp) c.*360G>A (n.*360G>A) c.542G>A (p.Gly181Asp) c.617G>A (p.Gly206Asp) c.*429G>A (n.*429G>A) c.389G>A (p.Gly130Asp) | |
| 7 | g.107915507G>C | CA368856712 | DLD | c.686G>C (p.Gly229Ala) c.*360G>C (n.*360G>C) c.542G>C (p.Gly181Ala) c.617G>C (p.Gly206Ala) c.*429G>C (n.*429G>C) c.389G>C (p.Gly130Ala) | |
| 7 | g.107915507G>T | CA368856711 | DLD | c.686G>T (p.Gly229Val) c.*360G>T (n.*360G>T) c.542G>T (p.Gly181Val) c.617G>T (p.Gly206Val) c.*429G>T (n.*429G>T) c.389G>T (p.Gly130Val) | gnomAD v4 |
| 7 | g.107915508T>A | CA457108672 | DLD | c.687T>A (p.Gly229=) c.*361T>A (n.*361T>A) c.543T>A (p.Gly181=) c.618T>A (p.Gly206=) c.*430T>A (n.*430T>A) c.390T>A (p.Gly130=) | |
| 7 | g.107915508T>C | CA4434548 | DLD | c.687T>C (p.Gly229=) c.*361T>C (n.*361T>C) c.543T>C (p.Gly181=) c.618T>C (p.Gly206=) c.*430T>C (n.*430T>C) c.390T>C (p.Gly130=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.107915508T>G | CA457108674 | DLD | c.687T>G (p.Gly229=) c.*361T>G (n.*361T>G) c.543T>G (p.Gly181=) c.618T>G (p.Gly206=) c.*430T>G (n.*430T>G) c.390T>G (p.Gly130=) | |
| 7 | g.107915508T= | CA1732859307 | DLD | c.687T= (p.Gly229=) c.*361T= (n.*361T=) c.543T= (p.Gly181=) c.618T= (p.Gly206=) c.*430T= (n.*430T=) c.390T= (p.Gly130=) | |
| 7 | g.107915509T>A | CA368856713 | DLD | c.688T>A (p.Ser230Thr) c.*362T>A (n.*362T>A) c.544T>A (p.Ser182Thr) c.619T>A (p.Ser207Thr) c.*431T>A (n.*431T>A) c.391T>A (p.Ser131Thr) | |
| 7 | g.107915509T>C | CA368856714 | DLD | c.688T>C (p.Ser230Pro) c.*362T>C (n.*362T>C) c.544T>C (p.Ser182Pro) c.619T>C (p.Ser207Pro) c.*431T>C (n.*431T>C) c.391T>C (p.Ser131Pro) | |
| 7 | g.107915509T>G | CA368856715 | DLD | c.688T>G (p.Ser230Ala) c.*362T>G (n.*362T>G) c.544T>G (p.Ser182Ala) c.619T>G (p.Ser207Ala) c.*431T>G (n.*431T>G) c.391T>G (p.Ser131Ala) | |
| 7 | g.107915510C>A | CA368856716 | DLD | c.689C>A (p.Ser230Ter) c.*363C>A (n.*363C>A) c.545C>A (p.Ser182Ter) c.620C>A (p.Ser207Ter) c.*432C>A (n.*432C>A) c.392C>A (p.Ser131Ter) | |
| 7 | g.107915510C>G | CA368856717 | DLD | c.689C>G (p.Ser230Ter) c.*363C>G (n.*363C>G) c.545C>G (p.Ser182Ter) c.620C>G (p.Ser207Ter) c.*432C>G (n.*432C>G) c.392C>G (p.Ser131Ter) | |
| 7 | g.107915510C>T | CA368856718 | DLD | c.689C>T (p.Ser230Leu) c.*363C>T (n.*363C>T) c.545C>T (p.Ser182Leu) c.620C>T (p.Ser207Leu) c.*432C>T (n.*432C>T) c.392C>T (p.Ser131Leu) | |
| 7 | g.107915511A>C | CA457108677 | DLD | c.690A>C (p.Ser230=) c.*364A>C (n.*364A>C) c.546A>C (p.Ser182=) c.621A>C (p.Ser207=) c.*433A>C (n.*433A>C) c.393A>C (p.Ser131=) | |
| 7 | g.107915511A>G | CA457108678 | DLD | c.690A>G (p.Ser230=) c.*364A>G (n.*364A>G) c.546A>G (p.Ser182=) c.621A>G (p.Ser207=) c.*433A>G (n.*433A>G) c.393A>G (p.Ser131=) | |
| 7 | g.107915511A>T | CA457108679 | DLD | c.690A>T (p.Ser230=) c.*364A>T (n.*364A>T) c.546A>T (p.Ser182=) c.621A>T (p.Ser207=) c.*433A>T (n.*433A>T) c.393A>T (p.Ser131=) | |
| 7 | g.107915512G>A | CA368856719 | DLD | c.691G>A (p.Val231Ile) c.*365G>A (n.*365G>A) c.547G>A (p.Val183Ile) c.622G>A (p.Val208Ile) c.*434G>A (n.*434G>A) c.394G>A (p.Val132Ile) | |
| 7 | g.107915512G>C | CA368856721 | DLD | c.691G>C (p.Val231Leu) c.*365G>C (n.*365G>C) c.547G>C (p.Val183Leu) c.622G>C (p.Val208Leu) c.*434G>C (n.*434G>C) c.394G>C (p.Val132Leu) | |
| 7 | g.107915512G>T | CA368856723 | DLD | c.691G>T (p.Val231Phe) c.*365G>T (n.*365G>T) c.547G>T (p.Val183Phe) c.622G>T (p.Val208Phe) c.*434G>T (n.*434G>T) c.394G>T (p.Val132Phe) | |
| 7 | g.107915513T>A | CA368856726 | DLD | c.692T>A (p.Val231Asp) c.*366T>A (n.*366T>A) c.548T>A (p.Val183Asp) c.623T>A (p.Val208Asp) c.*435T>A (n.*435T>A) c.395T>A (p.Val132Asp) | |
| 7 | g.107915513T>C | CA368856728 | DLD | c.692T>C (p.Val231Ala) c.*366T>C (n.*366T>C) c.548T>C (p.Val183Ala) c.623T>C (p.Val208Ala) c.*435T>C (n.*435T>C) c.395T>C (p.Val132Ala) | |
| 7 | g.107915513T>G | CA368856725 | DLD | c.692T>G (p.Val231Gly) c.*366T>G (n.*366T>G) c.548T>G (p.Val183Gly) c.623T>G (p.Val208Gly) c.*435T>G (n.*435T>G) c.395T>G (p.Val132Gly) | |
| 7 | g.107915515del | CA2578990156 | DLD | c.694del (p.Trp232GlyfsTer8) c.*368del (n.*368del) c.550del (p.Trp184GlyfsTer8) c.625del (p.Trp209GlyfsTer8) c.*437del (n.*437del) c.397del (p.Trp133GlyfsTer8) | |
| 7 | g.107915514T>A | CA457108681 | DLD | c.693T>A (p.Val231=) c.*367T>A (n.*367T>A) c.549T>A (p.Val183=) c.624T>A (p.Val208=) c.*436T>A (n.*436T>A) c.396T>A (p.Val132=) | |
| 7 | g.107915514T>C | CA457108683 | DLD | c.693T>C (p.Val231=) c.*367T>C (n.*367T>C) c.549T>C (p.Val183=) c.624T>C (p.Val208=) c.*436T>C (n.*436T>C) c.396T>C (p.Val132=) | |
| 7 | g.107915514T>G | CA457108684 | DLD | c.693T>G (p.Val231=) c.*367T>G (n.*367T>G) c.549T>G (p.Val183=) c.624T>G (p.Val208=) c.*436T>G (n.*436T>G) c.396T>G (p.Val132=) | |
| 7 | g.107915515T>A | CA368856730 | DLD | c.694T>A (p.Trp232Arg) c.*368T>A (n.*368T>A) c.550T>A (p.Trp184Arg) c.625T>A (p.Trp209Arg) c.*437T>A (n.*437T>A) c.397T>A (p.Trp133Arg) | |
| 7 | g.107915515T>C | CA368856732 | DLD | c.694T>C (p.Trp232Arg) c.*368T>C (n.*368T>C) c.550T>C (p.Trp184Arg) c.625T>C (p.Trp209Arg) c.*437T>C (n.*437T>C) c.397T>C (p.Trp133Arg) | |
| 7 | g.107915515T>G | CA368856733 | DLD | c.694T>G (p.Trp232Gly) c.*368T>G (n.*368T>G) c.550T>G (p.Trp184Gly) c.625T>G (p.Trp209Gly) c.*437T>G (n.*437T>G) c.397T>G (p.Trp133Gly) | |
| 7 | g.107915516G>A | CA368856734 | DLD | c.695G>A (p.Trp232Ter) c.*369G>A (n.*369G>A) c.551G>A (p.Trp184Ter) c.626G>A (p.Trp209Ter) c.*438G>A (n.*438G>A) c.398G>A (p.Trp133Ter) | |
| 7 | g.107915516G>C | CA368856735 | DLD | c.695G>C (p.Trp232Ser) c.*369G>C (n.*369G>C) c.551G>C (p.Trp184Ser) c.626G>C (p.Trp209Ser) c.*438G>C (n.*438G>C) c.398G>C (p.Trp133Ser) | |
| 7 | g.107915516G>T | CA368856737 | DLD | c.695G>T (p.Trp232Leu) c.*369G>T (n.*369G>T) c.551G>T (p.Trp184Leu) c.626G>T (p.Trp209Leu) c.*438G>T (n.*438G>T) c.398G>T (p.Trp133Leu) | |
| 7 | g.107915517G>A | CA368856739 | DLD | c.696G>A (p.Trp232Ter) c.*370G>A (n.*370G>A) c.552G>A (p.Trp184Ter) c.627G>A (p.Trp209Ter) c.*439G>A (n.*439G>A) c.399G>A (p.Trp133Ter) | gnomAD v4 |
| 7 | g.107915517G>C | CA368856741 | DLD | c.696G>C (p.Trp232Cys) c.*370G>C (n.*370G>C) c.552G>C (p.Trp184Cys) c.627G>C (p.Trp209Cys) c.*439G>C (n.*439G>C) c.399G>C (p.Trp133Cys) | |
| 7 | g.107915517G>T | CA368856743 | DLD | c.696G>T (p.Trp232Cys) c.*370G>T (n.*370G>T) c.552G>T (p.Trp184Cys) c.627G>T (p.Trp209Cys) c.*439G>T (n.*439G>T) c.399G>T (p.Trp133Cys) | |
| 7 | g.107915518C>A | CA368856745 | DLD | c.697C>A (p.Gln233Lys) c.*371C>A (n.*371C>A) c.553C>A (p.Gln185Lys) c.628C>A (p.Gln210Lys) c.*440C>A (n.*440C>A) c.400C>A (p.Gln134Lys) | |
| 7 | g.107915518C>G | CA368856747 | DLD | c.697C>G (p.Gln233Glu) c.*371C>G (n.*371C>G) c.553C>G (p.Gln185Glu) c.628C>G (p.Gln210Glu) c.*440C>G (n.*440C>G) c.400C>G (p.Gln134Glu) | |
| 7 | g.107915518C>T | CA368856748 | DLD | c.697C>T (p.Gln233Ter) c.*371C>T (n.*371C>T) c.553C>T (p.Gln185Ter) c.628C>T (p.Gln210Ter) c.*440C>T (n.*440C>T) c.400C>T (p.Gln134Ter) | |
| 7 | g.107915519A>C | CA368856751 | DLD | c.698A>C (p.Gln233Pro) c.*372A>C (n.*372A>C) c.554A>C (p.Gln185Pro) c.629A>C (p.Gln210Pro) c.*441A>C (n.*441A>C) c.401A>C (p.Gln134Pro) | |
| 7 | g.107915519A>G | CA368856753 | DLD | c.698A>G (p.Gln233Arg) c.*372A>G (n.*372A>G) c.554A>G (p.Gln185Arg) c.629A>G (p.Gln210Arg) c.*441A>G (n.*441A>G) c.401A>G (p.Gln134Arg) | gnomAD v4 |
| 7 | g.107915519A>T | CA368856749 | DLD | c.698A>T (p.Gln233Leu) c.*372A>T (n.*372A>T) c.554A>T (p.Gln185Leu) c.629A>T (p.Gln210Leu) c.*441A>T (n.*441A>T) c.401A>T (p.Gln134Leu) | |
| 7 | g.107915520A= | CA1732859308 | DLD | c.699A= (p.Gln233=) c.*373A= (n.*373A=) c.555A= (p.Gln185=) c.630A= (p.Gln210=) c.*442A= (n.*442A=) c.402A= (p.Gln134=) | |
| 7 | g.107915520A>C | CA368856755 | DLD | c.699A>C (p.Gln233His) c.*373A>C (n.*373A>C) c.555A>C (p.Gln185His) c.630A>C (p.Gln210His) c.*442A>C (n.*442A>C) c.402A>C (p.Gln134His) | |
| 7 | g.107915520A>G | CA457108690 | DLD | c.699A>G (p.Gln233=) c.*373A>G (n.*373A>G) c.555A>G (p.Gln185=) c.630A>G (p.Gln210=) c.*442A>G (n.*442A>G) c.402A>G (p.Gln134=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 7 | g.107915520A>T | CA368856756 | DLD | c.699A>T (p.Gln233His) c.*373A>T (n.*373A>T) c.555A>T (p.Gln185His) c.630A>T (p.Gln210His) c.*442A>T (n.*442A>T) c.402A>T (p.Gln134His) | |
| 7 | g.107915521A= | CA1732859309 | DLD | c.700A= (p.Arg234=) c.*374A= (n.*374A=) c.556A= (p.Arg186=) c.631A= (p.Arg211=) c.*443A= (n.*443A=) c.403A= (p.Arg135=) |