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.127666241T>A | CA374934042 | STXBP1 | c.697T>A (p.Leu233Met) c.739T>A (p.Leu247Met) c.*381T>A (n.*381T>A) c.*1603T>A (n.*1603T>A) c.681T>A n.575T>A c.730T>A (p.Leu244Met) | |
| 9 | g.127666241T>C | CA467225889 | STXBP1 | c.697T>C (p.Leu233=) c.739T>C (p.Leu247=) c.*381T>C (n.*381T>C) c.*1603T>C (n.*1603T>C) c.681T>C n.575T>C c.730T>C (p.Leu244=) | |
| 9 | g.127666241T>G | CA374934043 | STXBP1 | c.697T>G (p.Leu233Val) c.739T>G (p.Leu247Val) c.*381T>G (n.*381T>G) c.*1603T>G (n.*1603T>G) c.681T>G n.575T>G c.730T>G (p.Leu244Val) | |
| 9 | g.127666242T>A | CA374934046 | STXBP1 | c.698T>A (p.Leu233Ter) c.740T>A (p.Leu247Ter) c.*382T>A (n.*382T>A) c.*1604T>A (n.*1604T>A) c.682T>A n.576T>A c.731T>A (p.Leu244Ter) | |
| 9 | g.127666242T>C | CA374934047 | STXBP1 | c.698T>C (p.Leu233Ser) c.740T>C (p.Leu247Ser) c.*382T>C (n.*382T>C) c.*1604T>C (n.*1604T>C) c.682T>C n.576T>C c.731T>C (p.Leu244Ser) | |
| 9 | g.127666242T>G | CA374934049 | STXBP1 | c.698T>G (p.Leu233Trp) c.740T>G (p.Leu247Trp) c.*382T>G (n.*382T>G) c.*1604T>G (n.*1604T>G) c.682T>G n.576T>G c.731T>G (p.Leu244Trp) | |
| 9 | g.127666243G>A | CA467225919 | STXBP1 | c.699G>A (p.Leu233=) c.741G>A (p.Leu247=) c.*383G>A (n.*383G>A) c.*1605G>A (n.*1605G>A) c.683G>A n.577G>A c.732G>A (p.Leu244=) | |
| 9 | g.127666243G>C | CA374934052 | STXBP1 | c.699G>C (p.Leu233Phe) c.741G>C (p.Leu247Phe) c.*383G>C (n.*383G>C) c.*1605G>C (n.*1605G>C) c.683G>C n.577G>C c.732G>C (p.Leu244Phe) | |
| 9 | g.127666243G>T | CA374934053 | STXBP1 | c.699G>T (p.Leu233Phe) c.741G>T (p.Leu247Phe) c.*383G>T (n.*383G>T) c.*1605G>T (n.*1605G>T) c.683G>T n.577G>T c.732G>T (p.Leu244Phe) | |
| 9 | g.127666244A>C | CA374934055 | STXBP1 | c.700A>C (p.Thr234Pro) c.742A>C (p.Thr248Pro) c.*384A>C (n.*384A>C) c.*1606A>C (n.*1606A>C) c.684A>C n.578A>C c.733A>C (p.Thr245Pro) | |
| 9 | g.127666244A>G | CA374934057 | STXBP1 | c.700A>G (p.Thr234Ala) c.742A>G (p.Thr248Ala) c.*384A>G (n.*384A>G) c.*1606A>G (n.*1606A>G) c.684A>G n.578A>G c.733A>G (p.Thr245Ala) | |
| 9 | g.127666244A>T | CA374934058 | STXBP1 | c.700A>T (p.Thr234Ser) c.742A>T (p.Thr248Ser) c.*384A>T (n.*384A>T) c.*1606A>T (n.*1606A>T) c.684A>T n.578A>T c.733A>T (p.Thr245Ser) | |
| 9 | g.127666245C>A | CA374934062 | STXBP1 | c.701C>A (p.Thr234Asn) c.743C>A (p.Thr248Asn) c.*385C>A (n.*385C>A) c.*1607C>A (n.*1607C>A) c.685C>A n.579C>A c.734C>A (p.Thr245Asn) | |
| 9 | g.127666245C= | CA1879911668 | STXBP1 | c.701C= (p.Thr234=) c.743C= (p.Thr248=) c.*385C= (n.*385C=) c.*1607C= (n.*1607C=) c.685C= n.579C= c.734C= (p.Thr245=) | |
| 9 | g.127666245C>G | CA374934063 | STXBP1 | c.701C>G (p.Thr234Ser) c.743C>G (p.Thr248Ser) c.*385C>G (n.*385C>G) c.*1607C>G (n.*1607C>G) c.685C>G n.579C>G c.734C>G (p.Thr245Ser) | |
| 9 | g.127666245C>T | CA16606218 | STXBP1 | c.701C>T (p.Thr234Ile) c.743C>T (p.Thr248Ile) c.*385C>T (n.*385C>T) c.*1607C>T (n.*1607C>T) c.685C>T n.579C>T c.734C>T (p.Thr245Ile) | ClinVar dbSNP |
| 9 | g.127666246T>A | CA467225952 | STXBP1 | c.702T>A (p.Thr234=) c.744T>A (p.Thr248=) c.*386T>A (n.*386T>A) c.*1608T>A (n.*1608T>A) c.686T>A n.580T>A c.735T>A (p.Thr245=) | |
| 9 | g.127666246T>C | CA467225962 | STXBP1 | c.702T>C (p.Thr234=) c.744T>C (p.Thr248=) c.*386T>C (n.*386T>C) c.*1608T>C (n.*1608T>C) c.686T>C n.580T>C c.735T>C (p.Thr245=) | |
| 9 | g.127666246T>G | CA467225958 | STXBP1 | c.702T>G (p.Thr234=) c.744T>G (p.Thr248=) c.*386T>G (n.*386T>G) c.*1608T>G (n.*1608T>G) c.686T>G n.580T>G c.735T>G (p.Thr245=) | |
| 9 | g.127666249dup | CA2695211357 | STXBP1 | c.705dup (p.Gln236SerfsTer6) c.747dup (p.Gln250SerfsTer6) c.*389dup (n.*389dup) c.*1611dup (n.*1611dup) c.689dup n.583dup c.738dup (p.Gln247SerfsTer6) | |
| 9 | g.127666248_127666249del | CA2695211358 | STXBP1 | c.704_705del (p.Phe235SerfsTer6) c.746_747del (p.Phe249SerfsTer6) c.*388_*389del (n.*388_*389del) c.*1610_*1611del (n.*1610_*1611del) c.688_689del n.582_583del c.737_738del (p.Phe246SerfsTer6) | |
| 9 | g.127666247T>A | CA374934066 | STXBP1 | c.703T>A (p.Phe235Ile) c.745T>A (p.Phe249Ile) c.*387T>A (n.*387T>A) c.*1609T>A (n.*1609T>A) c.687T>A n.581T>A c.736T>A (p.Phe246Ile) | |
| 9 | g.127666247T>C | CA374934069 | STXBP1 | c.703T>C (p.Phe235Leu) c.745T>C (p.Phe249Leu) c.*387T>C (n.*387T>C) c.*1609T>C (n.*1609T>C) c.687T>C n.581T>C c.736T>C (p.Phe246Leu) | |
| 9 | g.127666247T>G | CA374934068 | STXBP1 | c.703T>G (p.Phe235Val) c.745T>G (p.Phe249Val) c.*387T>G (n.*387T>G) c.*1609T>G (n.*1609T>G) c.687T>G n.581T>G c.736T>G (p.Phe246Val) | |
| 9 | g.127666248T>A | CA374934072 | STXBP1 | c.704T>A (p.Phe235Tyr) c.746T>A (p.Phe249Tyr) c.*388T>A (n.*388T>A) c.*1610T>A (n.*1610T>A) c.688T>A n.582T>A c.737T>A (p.Phe246Tyr) | |
| 9 | g.127666248T>C | CA374934074 | STXBP1 | c.704T>C (p.Phe235Ser) c.746T>C (p.Phe249Ser) c.*388T>C (n.*388T>C) c.*1610T>C (n.*1610T>C) c.688T>C n.582T>C c.737T>C (p.Phe246Ser) | ClinVar |
| 9 | g.127666248T>G | CA374934076 | STXBP1 | c.704T>G (p.Phe235Cys) c.746T>G (p.Phe249Cys) c.*388T>G (n.*388T>G) c.*1610T>G (n.*1610T>G) c.688T>G n.582T>G c.737T>G (p.Phe246Cys) | |
| 9 | g.127666249T>A | CA374934078 | STXBP1 | c.705T>A (p.Phe235Leu) c.747T>A (p.Phe249Leu) c.*389T>A (n.*389T>A) c.*1611T>A (n.*1611T>A) c.689T>A n.583T>A c.738T>A (p.Phe246Leu) | |
| 9 | g.127666249T>C | CA467225980 | STXBP1 | c.705T>C (p.Phe235=) c.747T>C (p.Phe249=) c.*389T>C (n.*389T>C) c.*1611T>C (n.*1611T>C) c.689T>C n.583T>C c.738T>C (p.Phe246=) | gnomAD v4 |
| 9 | g.127666249T>G | CA374934079 | STXBP1 | c.705T>G (p.Phe235Leu) c.747T>G (p.Phe249Leu) c.*389T>G (n.*389T>G) c.*1611T>G (n.*1611T>G) c.689T>G n.583T>G c.738T>G (p.Phe246Leu) | |
| 9 | g.127666250C>A | CA374934082 | STXBP1 | c.706C>A (p.Gln236Lys) c.748C>A (p.Gln250Lys) c.*390C>A (n.*390C>A) c.*1612C>A (n.*1612C>A) c.690C>A n.584C>A c.739C>A (p.Gln247Lys) | ClinVar |
| 9 | g.127666250C= | CA1879911680 | STXBP1 | c.706C= (p.Gln236=) c.748C= (p.Gln250=) c.*390C= (n.*390C=) c.*1612C= (n.*1612C=) c.690C= n.584C= c.739C= (p.Gln247=) | |
| 9 | g.127666250C>G | CA374934084 | STXBP1 | c.706C>G (p.Gln236Glu) c.748C>G (p.Gln250Glu) c.*390C>G (n.*390C>G) c.*1612C>G (n.*1612C>G) c.690C>G n.584C>G c.739C>G (p.Gln247Glu) | ClinVar |
| 9 | g.127666250C>T | CA16618740 | STXBP1 | c.706C>T (p.Gln236Ter) c.748C>T (p.Gln250Ter) c.*390C>T (n.*390C>T) c.*1612C>T (n.*1612C>T) c.690C>T n.584C>T c.739C>T (p.Gln247Ter) | ClinVar dbSNP |
| 9 | g.127666251A>C | CA374934087 | STXBP1 | c.707A>C (p.Gln236Pro) c.749A>C (p.Gln250Pro) c.*391A>C (n.*391A>C) c.*1613A>C (n.*1613A>C) c.691A>C n.585A>C c.740A>C (p.Gln247Pro) | |
| 9 | g.127666251A>G | CA374934089 | STXBP1 | c.707A>G (p.Gln236Arg) c.749A>G (p.Gln250Arg) c.*391A>G (n.*391A>G) c.*1613A>G (n.*1613A>G) c.691A>G n.585A>G c.740A>G (p.Gln247Arg) | ClinVar |
| 9 | g.127666251A>T | CA374934091 | STXBP1 | c.707A>T (p.Gln236Leu) c.749A>T (p.Gln250Leu) c.*391A>T (n.*391A>T) c.*1613A>T (n.*1613A>T) c.691A>T n.585A>T c.740A>T (p.Gln247Leu) | |
| 9 | g.127666252G>A | CA467226007 | STXBP1 | c.708G>A (p.Gln236=) c.750G>A (p.Gln250=) c.*392G>A (n.*392G>A) c.*1614G>A (n.*1614G>A) c.692G>A n.586G>A c.741G>A (p.Gln247=) | gnomAD v4 |
| 9 | g.127666252G>C | CA374934093 | STXBP1 | c.708G>C (p.Gln236His) c.750G>C (p.Gln250His) c.*392G>C (n.*392G>C) c.*1614G>C (n.*1614G>C) c.692G>C n.586G>C c.741G>C (p.Gln247His) | |
| 9 | g.127666252G>T | CA374934095 | STXBP1 | c.708G>T (p.Gln236His) c.750G>T (p.Gln250His) c.*392G>T (n.*392G>T) c.*1614G>T (n.*1614G>T) c.692G>T n.586G>T c.741G>T (p.Gln247His) | |
| 9 | g.127666253G>A | CA374934097 | STXBP1 | c.709G>A (p.Ala237Thr) c.751G>A (p.Ala251Thr) c.*393G>A (n.*393G>A) c.*1615G>A (n.*1615G>A) c.693G>A n.587G>A c.742G>A (p.Ala248Thr) | |
| 9 | g.127666253G>C | CA374934101 | STXBP1 | c.709G>C (p.Ala237Pro) c.751G>C (p.Ala251Pro) c.*393G>C (n.*393G>C) c.*1615G>C (n.*1615G>C) c.693G>C n.587G>C c.742G>C (p.Ala248Pro) | |
| 9 | g.127666253G>T | CA374934099 | STXBP1 | c.709G>T (p.Ala237Ser) c.751G>T (p.Ala251Ser) c.*393G>T (n.*393G>T) c.*1615G>T (n.*1615G>T) c.693G>T n.587G>T c.742G>T (p.Ala248Ser) | gnomAD v4 |
| 9 | g.127666254C>A | CA374934104 | STXBP1 | c.710C>A (p.Ala237Asp) c.752C>A (p.Ala251Asp) c.*394C>A (n.*394C>A) c.*1616C>A (n.*1616C>A) c.694C>A n.588C>A c.743C>A (p.Ala248Asp) | |
| 9 | g.127666254C>G | CA374934106 | STXBP1 | c.710C>G (p.Ala237Gly) c.752C>G (p.Ala251Gly) c.*394C>G (n.*394C>G) c.*1616C>G (n.*1616C>G) c.694C>G n.588C>G c.743C>G (p.Ala248Gly) | |
| 9 | g.127666254C>T | CA374934107 | STXBP1 | c.710C>T (p.Ala237Val) c.752C>T (p.Ala251Val) c.*394C>T (n.*394C>T) c.*1616C>T (n.*1616C>T) c.694C>T n.588C>T c.743C>T (p.Ala248Val) | |
| 9 | g.127666254_127666256delinsCTA | CA1879911684 | STXBP1 | c.710_712delinsCTA (p.Ala237=) c.752_754delinsCTA (p.Ala251=) c.*394_*396delinsCTA (n.*394_*396delinsCTA) c.*1616_*1618delinsCTA (n.*1616_*1618delinsCTA) c.694_696delinsCTA n.588_590delinsCTA c.743_745delinsCTA (p.Ala248=) | |
| 9 | g.127666255T>A | CA467226039 | STXBP1 | c.711T>A (p.Ala237=) c.753T>A (p.Ala251=) c.*395T>A (n.*395T>A) c.*1617T>A (n.*1617T>A) c.695T>A n.589T>A c.744T>A (p.Ala248=) | ClinVar dbSNP |
| 9 | g.127666255T>C | CA5248367 | STXBP1 | c.711T>C (p.Ala237=) c.753T>C (p.Ala251=) c.*395T>C (n.*395T>C) c.*1617T>C (n.*1617T>C) c.695T>C n.589T>C c.744T>C (p.Ala248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.127666255T>G | CA467226043 | STXBP1 | c.711T>G (p.Ala237=) c.753T>G (p.Ala251=) c.*395T>G (n.*395T>G) c.*1617T>G (n.*1617T>G) c.695T>G n.589T>G c.744T>G (p.Ala248=) |