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 |
|---|---|---|---|---|---|
| 5 | g.112780854_112780855del | CA2709983396 | APC | c.596_597del (p.Ala199AspfsTer?) n.652_653del c.*602_*603del (n.*602_*603del) c.626_627del (p.Ala209AspfsTer24) c.626_627del (p.Ala209AspfsTer?) c.521_522del (p.Ala174AspfsTer?) c.596_597del (p.Ala199AspfsTer24) c.419_420del (p.Ala140AspfsTer?) c.-440_-439del (n.-440_-439del) | dbSNP |
| 5 | g.112780854C>A | CA16022639 | APC | c.596C>A (p.Ala199Glu) n.652C>A c.*602C>A (n.*602C>A) c.626C>A (p.Ala209Glu) c.521C>A (p.Ala174Glu) c.419C>A (p.Ala140Glu) c.-440C>A (n.-440C>A) | dbSNP |
| 5 | g.112780854C= | CA1573478185 | APC | c.596C= (p.Ala199=) n.652C= c.*602C= (n.*602C=) c.626C= (p.Ala209=) c.521C= (p.Ala174=) c.419C= (p.Ala140=) c.-440C= (n.-440C=) | |
| 5 | g.112780854C>G | CA16022640 | APC | c.596C>G (p.Ala199Gly) n.652C>G c.*602C>G (n.*602C>G) c.626C>G (p.Ala209Gly) c.521C>G (p.Ala174Gly) c.419C>G (p.Ala140Gly) c.-440C>G (n.-440C>G) | ClinVar dbSNP |
| 5 | g.112780854C>T | CA043529 | APC | c.596C>T (p.Ala199Val) n.652C>T c.*602C>T (n.*602C>T) c.626C>T (p.Ala209Val) c.521C>T (p.Ala174Val) c.419C>T (p.Ala140Val) c.-440C>T (n.-440C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.112780855G>A | CA010837 | APC | c.597G>A (p.Ala199=) n.653G>A c.*603G>A (n.*603G>A) c.627G>A (p.Ala209=) c.522G>A (p.Ala174=) c.420G>A (p.Ala140=) c.-439G>A (n.-439G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112780855G>C | CA445755509 | APC | c.597G>C (p.Ala199=) n.653G>C c.*603G>C (n.*603G>C) c.627G>C (p.Ala209=) c.522G>C (p.Ala174=) c.420G>C (p.Ala140=) c.-439G>C (n.-439G>C) | dbSNP |
| 5 | g.112780855G= | CA1573478193 | APC | c.597G= (p.Ala199=) n.653G= c.*603G= (n.*603G=) c.627G= (p.Ala209=) c.522G= (p.Ala174=) c.420G= (p.Ala140=) c.-439G= (n.-439G=) | |
| 5 | g.112780855G>T | CA445755510 | APC | c.597G>T (p.Ala199=) n.653G>T c.*603G>T (n.*603G>T) c.627G>T (p.Ala209=) c.522G>T (p.Ala174=) c.420G>T (p.Ala140=) c.-439G>T (n.-439G>T) | ClinVar dbSNP |
| 5 | g.112780856A= | CA1573478200 | APC | c.598A= (p.Met200=) n.654A= c.*604A= (n.*604A=) c.628A= (p.Met210=) c.523A= (p.Met175=) c.421A= (p.Met141=) c.-438A= (n.-438A=) | |
| 5 | g.112780856A>C | CA16022641 | APC | c.598A>C (p.Met200Leu) n.654A>C c.*604A>C (n.*604A>C) c.628A>C (p.Met210Leu) c.523A>C (p.Met175Leu) c.421A>C (p.Met141Leu) c.-438A>C (n.-438A>C) | |
| 5 | g.112780856A>G | CA16022642 | APC | c.598A>G (p.Met200Val) n.654A>G c.*604A>G (n.*604A>G) c.628A>G (p.Met210Val) c.523A>G (p.Met175Val) c.421A>G (p.Met141Val) c.-438A>G (n.-438A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.112780856A>T | CA16022643 | APC | c.598A>T (p.Met200Leu) n.654A>T c.*604A>T (n.*604A>T) c.628A>T (p.Met210Leu) c.523A>T (p.Met175Leu) c.421A>T (p.Met141Leu) c.-438A>T (n.-438A>T) | ClinVar dbSNP |
| 5 | g.112780857T>A | CA16022644 | APC | c.599T>A (p.Met200Lys) n.655T>A c.*605T>A (n.*605T>A) c.629T>A (p.Met210Lys) c.524T>A (p.Met175Lys) c.422T>A (p.Met141Lys) c.-437T>A (n.-437T>A) | ClinVar dbSNP |
| 5 | g.112780857T>C | CA16022645 | APC | c.599T>C (p.Met200Thr) n.655T>C c.*605T>C (n.*605T>C) c.629T>C (p.Met210Thr) c.524T>C (p.Met175Thr) c.422T>C (p.Met141Thr) c.-437T>C (n.-437T>C) | gnomAD v4 |
| 5 | g.112780857T>G | CA16022646 | APC | c.599T>G (p.Met200Arg) n.655T>G c.*605T>G (n.*605T>G) c.629T>G (p.Met210Arg) c.524T>G (p.Met175Arg) c.422T>G (p.Met141Arg) c.-437T>G (n.-437T>G) | dbSNP |
| 5 | g.112780857T= | CA1573478211 | APC | c.599T= (p.Met200=) n.655T= c.*605T= (n.*605T=) c.629T= (p.Met210=) c.524T= (p.Met175=) c.422T= (p.Met141=) c.-437T= (n.-437T=) | |
| 5 | g.112780858G>A | CA16022647 | APC | c.600G>A (p.Met200Ile) n.656G>A c.*606G>A (n.*606G>A) c.630G>A (p.Met210Ile) c.525G>A (p.Met175Ile) c.423G>A (p.Met141Ile) c.-436G>A (n.-436G>A) | dbSNP |
| 5 | g.112780858G>C | CA16022648 | APC | c.600G>C (p.Met200Ile) n.656G>C c.*606G>C (n.*606G>C) c.630G>C (p.Met210Ile) c.525G>C (p.Met175Ile) c.423G>C (p.Met141Ile) c.-436G>C (n.-436G>C) | ClinVar dbSNP |
| 5 | g.112780858G= | CA1573478219 | APC | c.600G= (p.Met200=) n.656G= c.*606G= (n.*606G=) c.630G= (p.Met210=) c.525G= (p.Met175=) c.423G= (p.Met141=) c.-436G= (n.-436G=) | |
| 5 | g.112780858G>T | CA16022649 | APC | c.600G>T (p.Met200Ile) n.656G>T c.*606G>T (n.*606G>T) c.630G>T (p.Met210Ile) c.525G>T (p.Met175Ile) c.423G>T (p.Met141Ile) c.-436G>T (n.-436G>T) | |
| 5 | g.112780859del | CA658760487 | APC | c.601del (p.Glu201LysfsTer4) n.657del c.*607del (n.*607del) c.631del (p.Glu211LysfsTer4) c.526del (p.Glu176LysfsTer4) c.424del (p.Glu142LysfsTer4) c.-435del (n.-435del) | ClinVar |
| 5 | g.112780859G>A | CA16022650 | APC | c.601G>A (p.Glu201Lys) n.657G>A c.*607G>A (n.*607G>A) c.631G>A (p.Glu211Lys) c.526G>A (p.Glu176Lys) c.424G>A (p.Glu142Lys) c.-435G>A (n.-435G>A) | dbSNP gnomAD v4 |
| 5 | g.112780859G>C | CA16022651 | APC | c.601G>C (p.Glu201Gln) n.657G>C c.*607G>C (n.*607G>C) c.631G>C (p.Glu211Gln) c.526G>C (p.Glu176Gln) c.424G>C (p.Glu142Gln) c.-435G>C (n.-435G>C) | dbSNP |
| 5 | g.112780859G>T | CA16022652 | APC | c.601G>T (p.Glu201Ter) n.657G>T c.*607G>T (n.*607G>T) c.631G>T (p.Glu211Ter) c.526G>T (p.Glu176Ter) c.424G>T (p.Glu142Ter) c.-435G>T (n.-435G>T) | ClinVar |
| 5 | g.112780860A>C | CA16022653 | APC | c.602A>C (p.Glu201Ala) n.658A>C c.*608A>C (n.*608A>C) c.632A>C (p.Glu211Ala) c.527A>C (p.Glu176Ala) c.425A>C (p.Glu142Ala) c.-434A>C (n.-434A>C) | |
| 5 | g.112780860A>G | CA16022654 | APC | c.602A>G (p.Glu201Gly) n.658A>G c.*608A>G (n.*608A>G) c.632A>G (p.Glu211Gly) c.527A>G (p.Glu176Gly) c.425A>G (p.Glu142Gly) c.-434A>G (n.-434A>G) | ClinVar |
| 5 | g.112780860A>T | CA16022655 | APC | c.602A>T (p.Glu201Val) n.658A>T c.*608A>T (n.*608A>T) c.632A>T (p.Glu211Val) c.527A>T (p.Glu176Val) c.425A>T (p.Glu142Val) c.-434A>T (n.-434A>T) | |
| 5 | g.112780861A>C | CA16022656 | APC | c.603A>C (p.Glu201Asp) n.659A>C c.*609A>C (n.*609A>C) c.633A>C (p.Glu211Asp) c.528A>C (p.Glu176Asp) c.426A>C (p.Glu142Asp) c.-433A>C (n.-433A>C) | |
| 5 | g.112780861A>G | CA445755511 | APC | c.603A>G (p.Glu201=) n.659A>G c.*609A>G (n.*609A>G) c.633A>G (p.Glu211=) c.528A>G (p.Glu176=) c.426A>G (p.Glu142=) c.-433A>G (n.-433A>G) | dbSNP COSMIC |
| 5 | g.112780861A>T | CA16022657 | APC | c.603A>T (p.Glu201Asp) n.659A>T c.*609A>T (n.*609A>T) c.633A>T (p.Glu211Asp) c.528A>T (p.Glu176Asp) c.426A>T (p.Glu142Asp) c.-433A>T (n.-433A>T) | dbSNP |
| 5 | g.112780862del | CA2499217411 | APC | c.604del (p.Glu202AsnfsTer3) n.660del c.*610del (n.*610del) c.634del (p.Glu212AsnfsTer3) c.529del (p.Glu177AsnfsTer3) c.427del (p.Glu143AsnfsTer3) c.-432del (n.-432del) | ClinVar dbSNP |
| 5 | g.112780862G>A | CA16022658 | APC | c.604G>A (p.Glu202Lys) n.660G>A c.*610G>A (n.*610G>A) c.634G>A (p.Glu212Lys) c.529G>A (p.Glu177Lys) c.427G>A (p.Glu143Lys) c.-432G>A (n.-432G>A) | ClinVar dbSNP |
| 5 | g.112780862G>C | CA16022659 | APC | c.604G>C (p.Glu202Gln) n.660G>C c.*610G>C (n.*610G>C) c.634G>C (p.Glu212Gln) c.529G>C (p.Glu177Gln) c.427G>C (p.Glu143Gln) c.-432G>C (n.-432G>C) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112780862G>T | CA16022660 | APC | c.604G>T (p.Glu202Ter) n.660G>T c.*610G>T (n.*610G>T) c.634G>T (p.Glu212Ter) c.529G>T (p.Glu177Ter) c.427G>T (p.Glu143Ter) c.-432G>T (n.-432G>T) | COSMIC |
| 5 | g.112780863A= | CA1573478227 | APC | c.605A= (p.Glu202=) n.661A= c.*611A= (n.*611A=) c.635A= (p.Glu212=) c.530A= (p.Glu177=) c.428A= (p.Glu143=) c.-431A= (n.-431A=) | |
| 5 | g.112780863A>C | CA16022661 | APC | c.605A>C (p.Glu202Ala) n.661A>C c.*611A>C (n.*611A>C) c.635A>C (p.Glu212Ala) c.530A>C (p.Glu177Ala) c.428A>C (p.Glu143Ala) c.-431A>C (n.-431A>C) | |
| 5 | g.112780863A>G | CA16022662 | APC | c.605A>G (p.Glu202Gly) n.661A>G c.*611A>G (n.*611A>G) c.635A>G (p.Glu212Gly) c.530A>G (p.Glu177Gly) c.428A>G (p.Glu143Gly) c.-431A>G (n.-431A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112780863A>T | CA16022663 | APC | c.605A>T (p.Glu202Val) n.661A>T c.*611A>T (n.*611A>T) c.635A>T (p.Glu212Val) c.530A>T (p.Glu177Val) c.428A>T (p.Glu143Val) c.-431A>T (n.-431A>T) | ClinVar dbSNP |
| 5 | g.112780864dup | CA645546033 | APC | c.606dup (p.Gln203ThrfsTer?) n.662dup c.*612dup (n.*612dup) c.636dup (p.Gln213ThrfsTer21) c.636dup (p.Gln213ThrfsTer?) c.531dup (p.Gln178ThrfsTer?) c.606dup (p.Gln203ThrfsTer21) c.429dup (p.Gln144ThrfsTer?) c.-430dup (n.-430dup) | COSMIC |
| 5 | g.112780864A= | CA1573478235 | APC | c.606A= (p.Glu202=) n.662A= c.*612A= (n.*612A=) c.636A= (p.Glu212=) c.531A= (p.Glu177=) c.429A= (p.Glu143=) c.-430A= (n.-430A=) | |
| 5 | g.112780864A>C | CA16022664 | APC | c.606A>C (p.Glu202Asp) n.662A>C c.*612A>C (n.*612A>C) c.636A>C (p.Glu212Asp) c.531A>C (p.Glu177Asp) c.429A>C (p.Glu143Asp) c.-430A>C (n.-430A>C) | dbSNP |
| 5 | g.112780864A>G | CA10582280 | APC | c.606A>G (p.Glu202=) n.662A>G c.*612A>G (n.*612A>G) c.636A>G (p.Glu212=) c.531A>G (p.Glu177=) c.429A>G (p.Glu143=) c.-430A>G (n.-430A>G) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112780864A>T | CA16022665 | APC | c.606A>T (p.Glu202Asp) n.662A>T c.*612A>T (n.*612A>T) c.636A>T (p.Glu212Asp) c.531A>T (p.Glu177Asp) c.429A>T (p.Glu143Asp) c.-430A>T (n.-430A>T) | dbSNP |
| 5 | g.112780864_112780865delinsAC | CA1573478239 | APC | c.606_607delinsAC (p.Glu202=) n.662_663delinsAC c.*612_*613delinsAC (n.*612_*613delinsAC) c.636_637delinsAC (p.Glu212=) c.531_532delinsAC (p.Glu177=) c.429_430delinsAC (p.Glu143=) c.-430_-429delinsAC (n.-430_-429delinsAC) | |
| 5 | g.112780865del | CA658760489 | APC | c.607del (p.Gln203AsnfsTer2) n.663del c.*613del (n.*613del) c.637del (p.Gln213AsnfsTer2) c.532del (p.Gln178AsnfsTer2) c.430del (p.Gln144AsnfsTer2) c.-429del (n.-429del) | ClinVar dbSNP |
| 5 | g.112780865C>A | CA16022666 | APC | c.607C>A (p.Gln203Lys) n.663C>A c.*613C>A (n.*613C>A) c.637C>A (p.Gln213Lys) c.532C>A (p.Gln178Lys) c.430C>A (p.Gln144Lys) c.-429C>A (n.-429C>A) | ClinVar |
| 5 | g.112780865C= | CA1573478249 | APC | c.607C= (p.Gln203=) n.663C= c.*613C= (n.*613C=) c.637C= (p.Gln213=) c.532C= (p.Gln178=) c.430C= (p.Gln144=) c.-429C= (n.-429C=) | |
| 5 | g.112780865C>G | CA010884 | APC | c.607C>G (p.Gln203Glu) n.663C>G c.*613C>G (n.*613C>G) c.637C>G (p.Gln213Glu) c.532C>G (p.Gln178Glu) c.430C>G (p.Gln144Glu) c.-429C>G (n.-429C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112780865C>T | CA16022667 | APC | c.607C>T (p.Gln203Ter) n.663C>T c.*613C>T (n.*613C>T) c.637C>T (p.Gln213Ter) c.532C>T (p.Gln178Ter) c.430C>T (p.Gln144Ter) c.-429C>T (n.-429C>T) | ClinVar dbSNP COSMIC |