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 |
|---|---|---|---|---|---|
| 3 | g.93927252T>A | CA353674401 | PROS1 | c.232A>T (p.Thr78Ser) c.-162A>T (n.-162A>T) n.400A>T c.190A>T (p.Thr64Ser) c.211A>T (p.Thr71Ser) c.328A>T (p.Thr110Ser) | |
| 3 | g.93927252T>C | CA353674402 | PROS1 | c.232A>G (p.Thr78Ala) c.-162A>G (n.-162A>G) n.400A>G c.190A>G (p.Thr64Ala) c.211A>G (p.Thr71Ala) c.328A>G (p.Thr110Ala) | gnomAD v4 |
| 3 | g.93927252T>G | CA353674403 | PROS1 | c.232A>C (p.Thr78Pro) c.-162A>C (n.-162A>C) n.400A>C c.190A>C (p.Thr64Pro) c.211A>C (p.Thr71Pro) c.328A>C (p.Thr110Pro) | |
| 3 | g.93927253T>A | CA353674404 | PROS1 | c.231A>T (p.Glu77Asp) c.-163A>T (n.-163A>T) n.399A>T c.189A>T (p.Glu63Asp) c.210A>T (p.Glu70Asp) c.327A>T (p.Glu109Asp) | |
| 3 | g.93927253T>C | CA434462778 | PROS1 | c.231A>G (p.Glu77=) c.-163A>G (n.-163A>G) n.399A>G c.189A>G (p.Glu63=) c.210A>G (p.Glu70=) c.327A>G (p.Glu109=) | |
| 3 | g.93927253T>G | CA353674405 | PROS1 | c.231A>C (p.Glu77Asp) c.-163A>C (n.-163A>C) n.399A>C c.189A>C (p.Glu63Asp) c.210A>C (p.Glu70Asp) c.327A>C (p.Glu109Asp) | |
| 3 | g.93927254T>A | CA353674406 | PROS1 | c.230A>T (p.Glu77Val) c.-164A>T (n.-164A>T) n.398A>T c.188A>T (p.Glu63Val) c.209A>T (p.Glu70Val) c.326A>T (p.Glu109Val) | |
| 3 | g.93927254T>C | CA353674407 | PROS1 | c.230A>G (p.Glu77Gly) c.-164A>G (n.-164A>G) n.398A>G c.188A>G (p.Glu63Gly) c.209A>G (p.Glu70Gly) c.326A>G (p.Glu109Gly) | |
| 3 | g.93927254T>G | CA353674408 | PROS1 | c.230A>C (p.Glu77Ala) c.-164A>C (n.-164A>C) n.398A>C c.188A>C (p.Glu63Ala) c.209A>C (p.Glu70Ala) c.326A>C (p.Glu109Ala) | |
| 3 | g.93927255C>A | CA353674410 | PROS1 | c.229G>T (p.Glu77Ter) c.-165G>T (n.-165G>T) n.397G>T c.187G>T (p.Glu63Ter) c.208G>T (p.Glu70Ter) c.325G>T (p.Glu109Ter) | |
| 3 | g.93927255C>G | CA353674411 | PROS1 | c.229G>C (p.Glu77Gln) c.-165G>C (n.-165G>C) n.397G>C c.187G>C (p.Glu63Gln) c.208G>C (p.Glu70Gln) c.325G>C (p.Glu109Gln) | |
| 3 | g.93927255C>T | CA353674409 | PROS1 | c.229G>A (p.Glu77Lys) c.-165G>A (n.-165G>A) n.397G>A c.187G>A (p.Glu63Lys) c.208G>A (p.Glu70Lys) c.325G>A (p.Glu109Lys) | |
| 3 | g.93927256C>A | CA2503572 | PROS1 | c.228G>T (p.Pro76=) c.-166G>T (n.-166G>T) n.396G>T c.186G>T (p.Pro62=) c.207G>T (p.Pro69=) c.324G>T (p.Pro108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93927256C= | CA1385059270 | PROS1 | c.228G= (p.Pro76=) c.-166G= (n.-166G=) n.396G= c.186G= (p.Pro62=) c.207G= (p.Pro69=) c.324G= (p.Pro108=) | |
| 3 | g.93927256C>G | CA434462779 | PROS1 | c.228G>C (p.Pro76=) c.-166G>C (n.-166G>C) n.396G>C c.186G>C (p.Pro62=) c.207G>C (p.Pro69=) c.324G>C (p.Pro108=) | gnomAD v4 |
| 3 | g.93927256C>T | CA2503571 | PROS1 | c.228G>A (p.Pro76=) c.-166G>A (n.-166G>A) n.396G>A c.186G>A (p.Pro62=) c.207G>A (p.Pro69=) c.324G>A (p.Pro108=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.93927256_93927257delinsCG | CA1385059274 | PROS1 | c.227_228delinsCG (p.Pro76=) c.-167_-166delinsCG (n.-167_-166delinsCG) n.395_396delinsCG c.185_186delinsCG (p.Pro62=) c.206_207delinsCG (p.Pro69=) c.323_324delinsCG (p.Pro108=) | |
| 3 | g.93927257G>A | CA2503573 | PROS1 | c.227C>T (p.Pro76Leu) c.-167C>T (n.-167C>T) n.395C>T c.185C>T (p.Pro62Leu) c.206C>T (p.Pro69Leu) c.323C>T (p.Pro108Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93927257G>C | CA353674412 | PROS1 | c.227C>G (p.Pro76Arg) c.-167C>G (n.-167C>G) n.395C>G c.185C>G (p.Pro62Arg) c.206C>G (p.Pro69Arg) c.323C>G (p.Pro108Arg) | |
| 3 | g.93927257G= | CA1385059285 | PROS1 | c.227C= (p.Pro76=) c.-167C= (n.-167C=) n.395C= c.185C= (p.Pro62=) c.206C= (p.Pro69=) c.323C= (p.Pro108=) | |
| 3 | g.93927257G>T | CA353674413 | PROS1 | c.227C>A (p.Pro76Gln) c.-167C>A (n.-167C>A) n.395C>A c.185C>A (p.Pro62Gln) c.206C>A (p.Pro69Gln) c.323C>A (p.Pro108Gln) | |
| 3 | g.93927259del | CA544755252 | PROS1 | c.227del (p.Pro76ArgfsTer11) c.-167del (n.-167del) n.395del c.185del (p.Pro62ArgfsTer11) c.206del (p.Pro69ArgfsTer11) c.323del (p.Pro108ArgfsTer11) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93927258G>A | CA353674414 | PROS1 | c.226C>T (p.Pro76Ser) c.-168C>T (n.-168C>T) n.394C>T c.184C>T (p.Pro62Ser) c.205C>T (p.Pro69Ser) c.322C>T (p.Pro108Ser) | COSMIC |
| 3 | g.93927258G>C | CA353674415 | PROS1 | c.226C>G (p.Pro76Ala) c.-168C>G (n.-168C>G) n.394C>G c.184C>G (p.Pro62Ala) c.205C>G (p.Pro69Ala) c.322C>G (p.Pro108Ala) | |
| 3 | g.93927258G>T | CA353674416 | PROS1 | c.226C>A (p.Pro76Thr) c.-168C>A (n.-168C>A) n.394C>A c.184C>A (p.Pro62Thr) c.205C>A (p.Pro69Thr) c.322C>A (p.Pro108Thr) | |
| 3 | g.93927259G>A | CA434462783 | PROS1 | c.225C>T (p.Asp75=) c.-169C>T (n.-169C>T) n.393C>T c.183C>T (p.Asp61=) c.204C>T (p.Asp68=) c.321C>T (p.Asp107=) | gnomAD v4 |
| 3 | g.93927259G>C | CA353674417 | PROS1 | c.225C>G (p.Asp75Glu) c.-169C>G (n.-169C>G) n.393C>G c.183C>G (p.Asp61Glu) c.204C>G (p.Asp68Glu) c.321C>G (p.Asp107Glu) | |
| 3 | g.93927259G>T | CA353674418 | PROS1 | c.225C>A (p.Asp75Glu) c.-169C>A (n.-169C>A) n.393C>A c.183C>A (p.Asp61Glu) c.204C>A (p.Asp68Glu) c.321C>A (p.Asp107Glu) | |
| 3 | g.93927260T>A | CA353674419 | PROS1 | c.224A>T (p.Asp75Val) c.-170A>T (n.-170A>T) n.392A>T c.182A>T (p.Asp61Val) c.203A>T (p.Asp68Val) c.320A>T (p.Asp107Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.93927260T>C | CA353674420 | PROS1 | c.224A>G (p.Asp75Gly) c.-170A>G (n.-170A>G) n.392A>G c.182A>G (p.Asp61Gly) c.203A>G (p.Asp68Gly) c.320A>G (p.Asp107Gly) | gnomAD v4 |
| 3 | g.93927260T>G | CA353674421 | PROS1 | c.224A>C (p.Asp75Ala) c.-170A>C (n.-170A>C) n.392A>C c.182A>C (p.Asp61Ala) c.203A>C (p.Asp68Ala) c.320A>C (p.Asp107Ala) | |
| 3 | g.93927260T= | CA1385059292 | PROS1 | c.224A= (p.Asp75=) c.-170A= (n.-170A=) n.392A= c.182A= (p.Asp61=) c.203A= (p.Asp68=) c.320A= (p.Asp107=) | |
| 3 | g.93927261C>A | CA353674424 | PROS1 | c.223G>T (p.Asp75Tyr) c.-171G>T (n.-171G>T) n.391G>T c.181G>T (p.Asp61Tyr) c.202G>T (p.Asp68Tyr) c.319G>T (p.Asp107Tyr) | gnomAD v4 COSMIC |
| 3 | g.93927261C>G | CA353674423 | PROS1 | c.223G>C (p.Asp75His) c.-171G>C (n.-171G>C) n.391G>C c.181G>C (p.Asp61His) c.202G>C (p.Asp68His) c.319G>C (p.Asp107His) | |
| 3 | g.93927261C>T | CA353674422 | PROS1 | c.223G>A (p.Asp75Asn) c.-171G>A (n.-171G>A) n.391G>A c.181G>A (p.Asp61Asn) c.202G>A (p.Asp68Asn) c.319G>A (p.Asp107Asn) | |
| 3 | g.93927262A>C | CA353674425 | PROS1 | c.222T>G (p.Asn74Lys) c.-172T>G (n.-172T>G) n.390T>G c.180T>G (p.Asn60Lys) c.201T>G (p.Asn67Lys) c.318T>G (p.Asn106Lys) | |
| 3 | g.93927262A>G | CA434462786 | PROS1 | c.222T>C (p.Asn74=) c.-172T>C (n.-172T>C) n.390T>C c.180T>C (p.Asn60=) c.201T>C (p.Asn67=) c.318T>C (p.Asn106=) | gnomAD v4 |
| 3 | g.93927262A>T | CA353674426 | PROS1 | c.222T>A (p.Asn74Lys) c.-172T>A (n.-172T>A) n.390T>A c.180T>A (p.Asn60Lys) c.201T>A (p.Asn67Lys) c.318T>A (p.Asn106Lys) | |
| 3 | g.93927263T>A | CA353674427 | PROS1 | c.221A>T (p.Asn74Ile) c.-173A>T (n.-173A>T) n.389A>T c.179A>T (p.Asn60Ile) c.200A>T (p.Asn67Ile) c.317A>T (p.Asn106Ile) | COSMIC |
| 3 | g.93927263T>C | CA353674428 | PROS1 | c.221A>G (p.Asn74Ser) c.-173A>G (n.-173A>G) n.389A>G c.179A>G (p.Asn60Ser) c.200A>G (p.Asn67Ser) c.317A>G (p.Asn106Ser) | |
| 3 | g.93927263T>G | CA353674429 | PROS1 | c.221A>C (p.Asn74Thr) c.-173A>C (n.-173A>C) n.389A>C c.179A>C (p.Asn60Thr) c.200A>C (p.Asn67Thr) c.317A>C (p.Asn106Thr) | |
| 3 | g.93927264T>A | CA353674430 | PROS1 | c.220A>T (p.Asn74Tyr) c.-174A>T (n.-174A>T) n.388A>T c.178A>T (p.Asn60Tyr) c.199A>T (p.Asn67Tyr) c.316A>T (p.Asn106Tyr) | |
| 3 | g.93927264T>C | CA353674431 | PROS1 | c.220A>G (p.Asn74Asp) c.-174A>G (n.-174A>G) n.388A>G c.178A>G (p.Asn60Asp) c.199A>G (p.Asn67Asp) c.316A>G (p.Asn106Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.93927264T>G | CA353674432 | PROS1 | c.220A>C (p.Asn74His) c.-174A>C (n.-174A>C) n.388A>C c.178A>C (p.Asn60His) c.199A>C (p.Asn67His) c.316A>C (p.Asn106His) | |
| 3 | g.93927264T= | CA1385059297 | PROS1 | c.220A= (p.Asn74=) c.-174A= (n.-174A=) n.388A= c.178A= (p.Asn60=) c.199A= (p.Asn67=) c.316A= (p.Asn106=) | |
| 3 | g.93927265T>A | CA353674433 | PROS1 | c.219A>T (p.Glu73Asp) c.-175A>T (n.-175A>T) n.387A>T c.177A>T (p.Glu59Asp) c.198A>T (p.Glu66Asp) c.315A>T (p.Glu105Asp) | |
| 3 | g.93927265T>C | CA434462788 | PROS1 | c.219A>G (p.Glu73=) c.-175A>G (n.-175A>G) n.387A>G c.177A>G (p.Glu59=) c.198A>G (p.Glu66=) c.315A>G (p.Glu105=) | |
| 3 | g.93927265T>G | CA353674434 | PROS1 | c.219A>C (p.Glu73Asp) c.-175A>C (n.-175A>C) n.387A>C c.177A>C (p.Glu59Asp) c.198A>C (p.Glu66Asp) c.315A>C (p.Glu105Asp) | |
| 3 | g.93927266T>A | CA353674435 | PROS1 | c.218A>T (p.Glu73Val) c.-176A>T (n.-176A>T) n.386A>T c.176A>T (p.Glu59Val) c.197A>T (p.Glu66Val) c.314A>T (p.Glu105Val) | |
| 3 | g.93927266T>C | CA353674436 | PROS1 | c.218A>G (p.Glu73Gly) c.-176A>G (n.-176A>G) n.386A>G c.176A>G (p.Glu59Gly) c.197A>G (p.Glu66Gly) c.314A>G (p.Glu105Gly) |