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 |
|---|---|---|---|---|---|
| 9 | g.99142589T>A | CA374230604 | TGFBR1 | c.652T>A (p.Ser218Thr) c.664T>A (p.Ser222Thr) c.433T>A (p.Ser145Thr) c.421T>A (p.Ser141Thr) c.*655T>A (n.*655T>A) c.859T>A (p.Ser287Thr) c.628T>A (p.Ser210Thr) c.871T>A (p.Ser291Thr) | |
| 9 | g.99142589T>C | CA374230605 | TGFBR1 | c.652T>C (p.Ser218Pro) c.664T>C (p.Ser222Pro) c.433T>C (p.Ser145Pro) c.421T>C (p.Ser141Pro) c.*655T>C (n.*655T>C) c.859T>C (p.Ser287Pro) c.628T>C (p.Ser210Pro) c.871T>C (p.Ser291Pro) | |
| 9 | g.99142589T>G | CA374230606 | TGFBR1 | c.652T>G (p.Ser218Ala) c.664T>G (p.Ser222Ala) c.433T>G (p.Ser145Ala) c.421T>G (p.Ser141Ala) c.*655T>G (n.*655T>G) c.859T>G (p.Ser287Ala) c.628T>G (p.Ser210Ala) c.871T>G (p.Ser291Ala) | |
| 9 | g.99142590C>A | CA374230607 | TGFBR1 | c.653C>A (p.Ser218Tyr) c.665C>A (p.Ser222Tyr) c.434C>A (p.Ser145Tyr) c.422C>A (p.Ser141Tyr) c.*656C>A (n.*656C>A) c.860C>A (p.Ser287Tyr) c.629C>A (p.Ser210Tyr) c.872C>A (p.Ser291Tyr) | ClinVar dbSNP |
| 9 | g.99142590C= | CA1867260057 | TGFBR1 | c.653C= (p.Ser218=) c.665C= (p.Ser222=) c.434C= (p.Ser145=) c.422C= (p.Ser141=) c.*656C= (n.*656C=) c.860C= (p.Ser287=) c.629C= (p.Ser210=) c.872C= (p.Ser291=) | |
| 9 | g.99142590C>G | CA374230608 | TGFBR1 | c.653C>G (p.Ser218Cys) c.665C>G (p.Ser222Cys) c.434C>G (p.Ser145Cys) c.422C>G (p.Ser141Cys) c.*656C>G (n.*656C>G) c.860C>G (p.Ser287Cys) c.629C>G (p.Ser210Cys) c.872C>G (p.Ser291Cys) | |
| 9 | g.99142590C>T | CA319926 | TGFBR1 | c.653C>T (p.Ser218Phe) c.665C>T (p.Ser222Phe) c.434C>T (p.Ser145Phe) c.422C>T (p.Ser141Phe) c.*656C>T (n.*656C>T) c.860C>T (p.Ser287Phe) c.629C>T (p.Ser210Phe) c.872C>T (p.Ser291Phe) | ClinVar dbSNP COSMIC |
| 9 | g.99142591C>A | CA466434444 | TGFBR1 | c.654C>A (p.Ser218=) c.666C>A (p.Ser222=) c.435C>A (p.Ser145=) c.423C>A (p.Ser141=) c.*657C>A (n.*657C>A) c.861C>A (p.Ser287=) c.630C>A (p.Ser210=) c.873C>A (p.Ser291=) | |
| 9 | g.99142591C= | CA1867260060 | TGFBR1 | c.654C= (p.Ser218=) c.666C= (p.Ser222=) c.435C= (p.Ser145=) c.423C= (p.Ser141=) c.*657C= (n.*657C=) c.861C= (p.Ser287=) c.630C= (p.Ser210=) c.873C= (p.Ser291=) | |
| 9 | g.99142591C>G | CA466434445 | TGFBR1 | c.654C>G (p.Ser218=) c.666C>G (p.Ser222=) c.435C>G (p.Ser145=) c.423C>G (p.Ser141=) c.*657C>G (n.*657C>G) c.861C>G (p.Ser287=) c.630C>G (p.Ser210=) c.873C>G (p.Ser291=) | |
| 9 | g.99142591C>T | CA196891540 | TGFBR1 | c.654C>T (p.Ser218=) c.666C>T (p.Ser222=) c.435C>T (p.Ser145=) c.423C>T (p.Ser141=) c.*657C>T (n.*657C>T) c.861C>T (p.Ser287=) c.630C>T (p.Ser210=) c.873C>T (p.Ser291=) | dbSNP |
| 9 | g.99142592C>A | CA374230609 | TGFBR1 | c.655C>A (p.Leu219Ile) c.667C>A (p.Leu223Ile) c.436C>A (p.Leu146Ile) c.424C>A (p.Leu142Ile) c.*658C>A (n.*658C>A) c.862C>A (p.Leu288Ile) c.631C>A (p.Leu211Ile) c.874C>A (p.Leu292Ile) | |
| 9 | g.99142592C= | CA1867260063 | TGFBR1 | c.655C= (p.Leu219=) c.667C= (p.Leu223=) c.436C= (p.Leu146=) c.424C= (p.Leu142=) c.*658C= (n.*658C=) c.862C= (p.Leu288=) c.631C= (p.Leu211=) c.874C= (p.Leu292=) | |
| 9 | g.99142592C>G | CA374230610 | TGFBR1 | c.655C>G (p.Leu219Val) c.667C>G (p.Leu223Val) c.436C>G (p.Leu146Val) c.424C>G (p.Leu142Val) c.*658C>G (n.*658C>G) c.862C>G (p.Leu288Val) c.631C>G (p.Leu211Val) c.874C>G (p.Leu292Val) | ClinVar |
| 9 | g.99142592C>T | CA196891545 | TGFBR1 | c.655C>T (p.Leu219Phe) c.667C>T (p.Leu223Phe) c.436C>T (p.Leu146Phe) c.424C>T (p.Leu142Phe) c.*658C>T (n.*658C>T) c.862C>T (p.Leu288Phe) c.631C>T (p.Leu211Phe) c.874C>T (p.Leu292Phe) | dbSNP |
| 9 | g.99142593T>A | CA374230611 | TGFBR1 | c.656T>A (p.Leu219His) c.668T>A (p.Leu223His) c.437T>A (p.Leu146His) c.425T>A (p.Leu142His) c.*659T>A (n.*659T>A) c.863T>A (p.Leu288His) c.632T>A (p.Leu211His) c.875T>A (p.Leu292His) | gnomAD v4 |
| 9 | g.99142593T>C | CA374230613 | TGFBR1 | c.656T>C (p.Leu219Pro) c.668T>C (p.Leu223Pro) c.437T>C (p.Leu146Pro) c.425T>C (p.Leu142Pro) c.*659T>C (n.*659T>C) c.863T>C (p.Leu288Pro) c.632T>C (p.Leu211Pro) c.875T>C (p.Leu292Pro) | dbSNP |
| 9 | g.99142593T>G | CA374230612 | TGFBR1 | c.656T>G (p.Leu219Arg) c.668T>G (p.Leu223Arg) c.437T>G (p.Leu146Arg) c.425T>G (p.Leu142Arg) c.*659T>G (n.*659T>G) c.863T>G (p.Leu288Arg) c.632T>G (p.Leu211Arg) c.875T>G (p.Leu292Arg) | |
| 9 | g.99142597del | CA2720303662 | TGFBR1 | c.660del (p.Phe220LeufsTer4) c.672del (p.Phe224LeufsTer4) c.441del (p.Phe147LeufsTer4) c.429del (p.Phe143LeufsTer4) c.*663del (n.*663del) c.867del (p.Phe289LeufsTer4) c.636del (p.Phe212LeufsTer4) c.879del (p.Phe293LeufsTer4) | dbSNP |
| 9 | g.99142594T>A | CA466434446 | TGFBR1 | c.657T>A (p.Leu219=) c.669T>A (p.Leu223=) c.438T>A (p.Leu146=) c.426T>A (p.Leu142=) c.*660T>A (n.*660T>A) c.864T>A (p.Leu288=) c.633T>A (p.Leu211=) c.876T>A (p.Leu292=) | |
| 9 | g.99142594T>C | CA466434447 | TGFBR1 | c.657T>C (p.Leu219=) c.669T>C (p.Leu223=) c.438T>C (p.Leu146=) c.426T>C (p.Leu142=) c.*660T>C (n.*660T>C) c.864T>C (p.Leu288=) c.633T>C (p.Leu211=) c.876T>C (p.Leu292=) | |
| 9 | g.99142594T>G | CA466434449 | TGFBR1 | c.657T>G (p.Leu219=) c.669T>G (p.Leu223=) c.438T>G (p.Leu146=) c.426T>G (p.Leu142=) c.*660T>G (n.*660T>G) c.864T>G (p.Leu288=) c.633T>G (p.Leu211=) c.876T>G (p.Leu292=) | |
| 9 | g.99142595T>A | CA374230614 | TGFBR1 | c.658T>A (p.Phe220Ile) c.670T>A (p.Phe224Ile) c.439T>A (p.Phe147Ile) c.427T>A (p.Phe143Ile) c.*661T>A (n.*661T>A) c.865T>A (p.Phe289Ile) c.634T>A (p.Phe212Ile) c.877T>A (p.Phe293Ile) | |
| 9 | g.99142595T>C | CA374230615 | TGFBR1 | c.658T>C (p.Phe220Leu) c.670T>C (p.Phe224Leu) c.439T>C (p.Phe147Leu) c.427T>C (p.Phe143Leu) c.*661T>C (n.*661T>C) c.865T>C (p.Phe289Leu) c.634T>C (p.Phe212Leu) c.877T>C (p.Phe293Leu) | |
| 9 | g.99142595T>G | CA374230616 | TGFBR1 | c.658T>G (p.Phe220Val) c.670T>G (p.Phe224Val) c.439T>G (p.Phe147Val) c.427T>G (p.Phe143Val) c.*661T>G (n.*661T>G) c.865T>G (p.Phe289Val) c.634T>G (p.Phe212Val) c.877T>G (p.Phe293Val) | |
| 9 | g.99142596T>A | CA374230617 | TGFBR1 | c.659T>A (p.Phe220Tyr) c.671T>A (p.Phe224Tyr) c.440T>A (p.Phe147Tyr) c.428T>A (p.Phe143Tyr) c.*662T>A (n.*662T>A) c.866T>A (p.Phe289Tyr) c.635T>A (p.Phe212Tyr) c.878T>A (p.Phe293Tyr) | |
| 9 | g.99142596T>C | CA374230618 | TGFBR1 | c.659T>C (p.Phe220Ser) c.671T>C (p.Phe224Ser) c.440T>C (p.Phe147Ser) c.428T>C (p.Phe143Ser) c.*662T>C (n.*662T>C) c.866T>C (p.Phe289Ser) c.635T>C (p.Phe212Ser) c.878T>C (p.Phe293Ser) | |
| 9 | g.99142596T>G | CA374230619 | TGFBR1 | c.659T>G (p.Phe220Cys) c.671T>G (p.Phe224Cys) c.440T>G (p.Phe147Cys) c.428T>G (p.Phe143Cys) c.*662T>G (n.*662T>G) c.866T>G (p.Phe289Cys) c.635T>G (p.Phe212Cys) c.878T>G (p.Phe293Cys) | |
| 9 | g.99142597T>A | CA374230620 | TGFBR1 | c.660T>A (p.Phe220Leu) c.672T>A (p.Phe224Leu) c.441T>A (p.Phe147Leu) c.429T>A (p.Phe143Leu) c.*663T>A (n.*663T>A) c.867T>A (p.Phe289Leu) c.636T>A (p.Phe212Leu) c.879T>A (p.Phe293Leu) | |
| 9 | g.99142597T>C | CA466434451 | TGFBR1 | c.660T>C (p.Phe220=) c.672T>C (p.Phe224=) c.441T>C (p.Phe147=) c.429T>C (p.Phe143=) c.*663T>C (n.*663T>C) c.867T>C (p.Phe289=) c.636T>C (p.Phe212=) c.879T>C (p.Phe293=) | ClinVar gnomAD v4 |
| 9 | g.99142597T>G | CA374230621 | TGFBR1 | c.660T>G (p.Phe220Leu) c.672T>G (p.Phe224Leu) c.441T>G (p.Phe147Leu) c.429T>G (p.Phe143Leu) c.*663T>G (n.*663T>G) c.867T>G (p.Phe289Leu) c.636T>G (p.Phe212Leu) c.879T>G (p.Phe293Leu) | |
| 9 | g.99142598G>A | CA374230622 | TGFBR1 | c.661G>A (p.Asp221Asn) c.673G>A (p.Asp225Asn) c.442G>A (p.Asp148Asn) c.430G>A (p.Asp144Asn) c.*664G>A (n.*664G>A) c.868G>A (p.Asp290Asn) c.637G>A (p.Asp213Asn) c.880G>A (p.Asp294Asn) | |
| 9 | g.99142598G>C | CA374230623 | TGFBR1 | c.661G>C (p.Asp221His) c.673G>C (p.Asp225His) c.442G>C (p.Asp148His) c.430G>C (p.Asp144His) c.*664G>C (n.*664G>C) c.868G>C (p.Asp290His) c.637G>C (p.Asp213His) c.880G>C (p.Asp294His) | |
| 9 | g.99142598G>T | CA374230624 | TGFBR1 | c.661G>T (p.Asp221Tyr) c.673G>T (p.Asp225Tyr) c.442G>T (p.Asp148Tyr) c.430G>T (p.Asp144Tyr) c.*664G>T (n.*664G>T) c.868G>T (p.Asp290Tyr) c.637G>T (p.Asp213Tyr) c.880G>T (p.Asp294Tyr) | ClinVar |
| 9 | g.99142599A>C | CA374230627 | TGFBR1 | c.662A>C (p.Asp221Ala) c.674A>C (p.Asp225Ala) c.443A>C (p.Asp148Ala) c.431A>C (p.Asp144Ala) c.*665A>C (n.*665A>C) c.869A>C (p.Asp290Ala) c.638A>C (p.Asp213Ala) c.881A>C (p.Asp294Ala) | |
| 9 | g.99142599A>G | CA374230626 | TGFBR1 | c.662A>G (p.Asp221Gly) c.674A>G (p.Asp225Gly) c.443A>G (p.Asp148Gly) c.431A>G (p.Asp144Gly) c.*665A>G (n.*665A>G) c.869A>G (p.Asp290Gly) c.638A>G (p.Asp213Gly) c.881A>G (p.Asp294Gly) | dbSNP |
| 9 | g.99142599A>T | CA374230625 | TGFBR1 | c.662A>T (p.Asp221Val) c.674A>T (p.Asp225Val) c.443A>T (p.Asp148Val) c.431A>T (p.Asp144Val) c.*665A>T (n.*665A>T) c.869A>T (p.Asp290Val) c.638A>T (p.Asp213Val) c.881A>T (p.Asp294Val) | |
| 9 | g.99142599_99142603delinsATTAC | CA1867260066 | TGFBR1 | c.662_666delinsATTAC (p.Asp221=) c.674_678delinsATTAC (p.Asp225=) c.443_447delinsATTAC (p.Asp148=) c.431_435delinsATTAC (p.Asp144=) c.*665_*669delinsATTAC (n.*665_*669delinsATTAC) c.869_873delinsATTAC (p.Asp290=) c.638_642delinsATTAC (p.Asp213=) c.881_885delinsATTAC (p.Asp294=) | |
| 9 | g.99142600T>A | CA374230628 | TGFBR1 | c.663T>A (p.Asp221Glu) c.675T>A (p.Asp225Glu) c.444T>A (p.Asp148Glu) c.432T>A (p.Asp144Glu) c.*666T>A (n.*666T>A) c.870T>A (p.Asp290Glu) c.639T>A (p.Asp213Glu) c.882T>A (p.Asp294Glu) | |
| 9 | g.99142600T>C | CA466434453 | TGFBR1 | c.663T>C (p.Asp221=) c.675T>C (p.Asp225=) c.444T>C (p.Asp148=) c.432T>C (p.Asp144=) c.*666T>C (n.*666T>C) c.870T>C (p.Asp290=) c.639T>C (p.Asp213=) c.882T>C (p.Asp294=) | gnomAD v4 |
| 9 | g.99142600T>G | CA374230629 | TGFBR1 | c.663T>G (p.Asp221Glu) c.675T>G (p.Asp225Glu) c.444T>G (p.Asp148Glu) c.432T>G (p.Asp144Glu) c.*666T>G (n.*666T>G) c.870T>G (p.Asp290Glu) c.639T>G (p.Asp213Glu) c.882T>G (p.Asp294Glu) | |
| 9 | g.99142603_99142606del | CA658797256 | TGFBR1 | c.666_669del (p.Tyr222Ter) c.678_681del (p.Tyr226Ter) c.447_450del (p.Tyr149Ter) c.435_438del (p.Tyr145Ter) c.*669_*672del (n.*669_*672del) c.873_876del (p.Tyr291Ter) c.642_645del (p.Tyr214Ter) c.885_888del (p.Tyr295Ter) | ClinVar dbSNP |
| 9 | g.99142601T>A | CA374230630 | TGFBR1 | c.664T>A (p.Tyr222Asn) c.676T>A (p.Tyr226Asn) c.445T>A (p.Tyr149Asn) c.433T>A (p.Tyr145Asn) c.*667T>A (n.*667T>A) c.871T>A (p.Tyr291Asn) c.640T>A (p.Tyr214Asn) c.883T>A (p.Tyr295Asn) | gnomAD v4 |
| 9 | g.99142601T>C | CA043255 | TGFBR1 | c.664T>C (p.Tyr222His) c.676T>C (p.Tyr226His) c.445T>C (p.Tyr149His) c.433T>C (p.Tyr145His) c.*667T>C (n.*667T>C) c.871T>C (p.Tyr291His) c.640T>C (p.Tyr214His) c.883T>C (p.Tyr295His) | dbSNP ExAC gnomAD v2 |
| 9 | g.99142601T>G | CA374230631 | TGFBR1 | c.664T>G (p.Tyr222Asp) c.676T>G (p.Tyr226Asp) c.445T>G (p.Tyr149Asp) c.433T>G (p.Tyr145Asp) c.*667T>G (n.*667T>G) c.871T>G (p.Tyr291Asp) c.640T>G (p.Tyr214Asp) c.883T>G (p.Tyr295Asp) | dbSNP |
| 9 | g.99142601T= | CA1867260071 | TGFBR1 | c.664T= (p.Tyr222=) c.676T= (p.Tyr226=) c.445T= (p.Tyr149=) c.433T= (p.Tyr145=) c.*667T= (n.*667T=) c.871T= (p.Tyr291=) c.640T= (p.Tyr214=) c.883T= (p.Tyr295=) | |
| 9 | g.99142602A= | CA1867260074 | TGFBR1 | c.665A= (p.Tyr222=) c.677A= (p.Tyr226=) c.446A= (p.Tyr149=) c.434A= (p.Tyr145=) c.*668A= (n.*668A=) c.872A= (p.Tyr291=) c.641A= (p.Tyr214=) c.884A= (p.Tyr295=) | |
| 9 | g.99142602A>C | CA374230632 | TGFBR1 | c.665A>C (p.Tyr222Ser) c.677A>C (p.Tyr226Ser) c.446A>C (p.Tyr149Ser) c.434A>C (p.Tyr145Ser) c.*668A>C (n.*668A>C) c.872A>C (p.Tyr291Ser) c.641A>C (p.Tyr214Ser) c.884A>C (p.Tyr295Ser) | |
| 9 | g.99142602A>G | CA196891562 | TGFBR1 | c.665A>G (p.Tyr222Cys) c.677A>G (p.Tyr226Cys) c.446A>G (p.Tyr149Cys) c.434A>G (p.Tyr145Cys) c.*668A>G (n.*668A>G) c.872A>G (p.Tyr291Cys) c.641A>G (p.Tyr214Cys) c.884A>G (p.Tyr295Cys) | dbSNP gnomAD v4 |
| 9 | g.99142602A>T | CA374230633 | TGFBR1 | c.665A>T (p.Tyr222Phe) c.677A>T (p.Tyr226Phe) c.446A>T (p.Tyr149Phe) c.434A>T (p.Tyr145Phe) c.*668A>T (n.*668A>T) c.872A>T (p.Tyr291Phe) c.641A>T (p.Tyr214Phe) c.884A>T (p.Tyr295Phe) |