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 |
|---|---|---|---|---|---|
| 15 | g.74196045T>A | CA491174854 | STRA6 | c.369A>T (p.Ala123=) c.342A>T (p.Ala114=) c.480A>T (p.Ala160=) n.245A>T c.486A>T (p.Ala162=) n.449A>T n.653A>T n.252-370A>T c.414A>T (p.Ala138=) n.641A>T c.180A>T (p.Ala60=) n.492A>T c.417A>T (p.Ala139=) | |
| 15 | g.74196045T>C | CA491174856 | STRA6 | c.369A>G (p.Ala123=) c.342A>G (p.Ala114=) c.480A>G (p.Ala160=) n.245A>G c.486A>G (p.Ala162=) n.449A>G n.653A>G n.252-370A>G c.414A>G (p.Ala138=) n.641A>G c.180A>G (p.Ala60=) n.492A>G c.417A>G (p.Ala139=) | |
| 15 | g.74196045T>G | CA491174858 | STRA6 | c.369A>C (p.Ala123=) c.342A>C (p.Ala114=) c.480A>C (p.Ala160=) n.245A>C c.486A>C (p.Ala162=) n.449A>C n.653A>C n.252-370A>C c.414A>C (p.Ala138=) n.641A>C c.180A>C (p.Ala60=) n.492A>C c.417A>C (p.Ala139=) | |
| 15 | g.74196046G>A | CA393138881 | STRA6 | c.368C>T (p.Ala123Val) c.341C>T (p.Ala114Val) c.479C>T (p.Ala160Val) n.244C>T c.485C>T (p.Ala162Val) n.448C>T n.652C>T n.252-371C>T c.413C>T (p.Ala138Val) n.640C>T c.179C>T (p.Ala60Val) n.491C>T c.416C>T (p.Ala139Val) | |
| 15 | g.74196046G>C | CA393138882 | STRA6 | c.368C>G (p.Ala123Gly) c.341C>G (p.Ala114Gly) c.479C>G (p.Ala160Gly) n.244C>G c.485C>G (p.Ala162Gly) n.448C>G n.652C>G n.252-371C>G c.413C>G (p.Ala138Gly) n.640C>G c.179C>G (p.Ala60Gly) n.491C>G c.416C>G (p.Ala139Gly) | |
| 15 | g.74196046G>T | CA393138883 | STRA6 | c.368C>A (p.Ala123Glu) c.341C>A (p.Ala114Glu) c.479C>A (p.Ala160Glu) n.244C>A c.485C>A (p.Ala162Glu) n.448C>A n.652C>A n.252-371C>A c.413C>A (p.Ala138Glu) n.640C>A c.179C>A (p.Ala60Glu) n.491C>A c.416C>A (p.Ala139Glu) | |
| 15 | g.74196047C>A | CA393138885 | STRA6 | c.367G>T (p.Ala123Ser) c.340G>T (p.Ala114Ser) c.478G>T (p.Ala160Ser) n.243G>T c.484G>T (p.Ala162Ser) n.447G>T n.651G>T n.252-372G>T c.412G>T (p.Ala138Ser) n.639G>T c.178G>T (p.Ala60Ser) n.490G>T c.415G>T (p.Ala139Ser) | dbSNP |
| 15 | g.74196047C= | CA2187574394 | STRA6 | c.367G= (p.Ala123=) c.340G= (p.Ala114=) c.478G= (p.Ala160=) n.243G= c.484G= (p.Ala162=) n.447G= n.651G= n.252-372G= c.412G= (p.Ala138=) n.639G= c.178G= (p.Ala60=) n.490G= c.415G= (p.Ala139=) | |
| 15 | g.74196047C>G | CA7655018 | STRA6 | c.367G>C (p.Ala123Pro) c.340G>C (p.Ala114Pro) c.478G>C (p.Ala160Pro) n.243G>C c.484G>C (p.Ala162Pro) n.447G>C n.651G>C n.252-372G>C c.412G>C (p.Ala138Pro) n.639G>C c.178G>C (p.Ala60Pro) n.490G>C c.415G>C (p.Ala139Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74196047C>T | CA7655019 | STRA6 | c.367G>A (p.Ala123Thr) c.340G>A (p.Ala114Thr) c.478G>A (p.Ala160Thr) n.243G>A c.484G>A (p.Ala162Thr) n.447G>A n.651G>A n.252-372G>A c.412G>A (p.Ala138Thr) n.639G>A c.178G>A (p.Ala60Thr) n.490G>A c.415G>A (p.Ala139Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.74196051_74196056dup | CA2575787178 | STRA6 | c.362_367dup (p.Asp122_Ala123insGluAsp) c.335_340dup (p.Asp113_Ala114insGluAsp) c.473_478dup (p.Asp159_Ala160insGluAsp) n.238_243dup c.479_484dup (p.Asp161_Ala162insGluAsp) n.442_447dup n.646_651dup n.252-377_252-372dup c.407_412dup (p.Asp137_Ala138insGluAsp) n.634_639dup c.173_178dup (p.Asp59_Ala60insGluAsp) n.485_490dup c.410_415dup (p.Asp138_Ala139insGluAsp) | |
| 15 | g.74196048G>A | CA7655020 | STRA6 | c.366C>T (p.Asp122=) c.339C>T (p.Asp113=) c.477C>T (p.Asp159=) n.242C>T c.483C>T (p.Asp161=) n.446C>T n.650C>T n.252-373C>T c.411C>T (p.Asp137=) n.638C>T c.177C>T (p.Asp59=) n.489C>T c.414C>T (p.Asp138=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74196048G>C | CA393138886 | STRA6 | c.366C>G (p.Asp122Glu) c.339C>G (p.Asp113Glu) c.477C>G (p.Asp159Glu) n.242C>G c.483C>G (p.Asp161Glu) n.446C>G n.650C>G n.252-373C>G c.411C>G (p.Asp137Glu) n.638C>G c.177C>G (p.Asp59Glu) n.489C>G c.414C>G (p.Asp138Glu) | gnomAD v4 |
| 15 | g.74196048G= | CA2187574395 | STRA6 | c.366C= (p.Asp122=) c.339C= (p.Asp113=) c.477C= (p.Asp159=) n.242C= c.483C= (p.Asp161=) n.446C= n.650C= n.252-373C= c.411C= (p.Asp137=) n.638C= c.177C= (p.Asp59=) n.489C= c.414C= (p.Asp138=) | |
| 15 | g.74196048G>T | CA393138887 | STRA6 | c.366C>A (p.Asp122Glu) c.339C>A (p.Asp113Glu) c.477C>A (p.Asp159Glu) n.242C>A c.483C>A (p.Asp161Glu) n.446C>A n.650C>A n.252-373C>A c.411C>A (p.Asp137Glu) n.638C>A c.177C>A (p.Asp59Glu) n.489C>A c.414C>A (p.Asp138Glu) | |
| 15 | g.74196049T>A | CA393138888 | STRA6 | c.365A>T (p.Asp122Val) c.338A>T (p.Asp113Val) c.476A>T (p.Asp159Val) n.241A>T c.482A>T (p.Asp161Val) n.445A>T n.649A>T n.252-374A>T c.410A>T (p.Asp137Val) n.637A>T c.176A>T (p.Asp59Val) n.488A>T c.413A>T (p.Asp138Val) | gnomAD v4 |
| 15 | g.74196049T>C | CA393138889 | STRA6 | c.365A>G (p.Asp122Gly) c.338A>G (p.Asp113Gly) c.476A>G (p.Asp159Gly) n.241A>G c.482A>G (p.Asp161Gly) n.445A>G n.649A>G n.252-374A>G c.410A>G (p.Asp137Gly) n.637A>G c.176A>G (p.Asp59Gly) n.488A>G c.413A>G (p.Asp138Gly) | |
| 15 | g.74196049T>G | CA393138890 | STRA6 | c.365A>C (p.Asp122Ala) c.338A>C (p.Asp113Ala) c.476A>C (p.Asp159Ala) n.241A>C c.482A>C (p.Asp161Ala) n.445A>C n.649A>C n.252-374A>C c.410A>C (p.Asp137Ala) n.637A>C c.176A>C (p.Asp59Ala) n.488A>C c.413A>C (p.Asp138Ala) | |
| 15 | g.74196051_74196053del | CA2575787179 | STRA6 | c.363_365del (p.Glu121del) c.336_338del (p.Glu112del) c.474_476del (p.Glu158del) n.239_241del c.480_482del (p.Glu160del) n.443_445del n.647_649del n.252-376_252-374del c.408_410del (p.Glu136del) n.635_637del c.174_176del (p.Glu58del) n.486_488del c.411_413del (p.Glu137del) | gnomAD v4 |
| 15 | g.74196050C>A | CA393138892 | STRA6 | c.364G>T (p.Asp122Tyr) c.337G>T (p.Asp113Tyr) c.475G>T (p.Asp159Tyr) n.240G>T c.481G>T (p.Asp161Tyr) n.444G>T n.648G>T n.252-375G>T c.409G>T (p.Asp137Tyr) n.636G>T c.175G>T (p.Asp59Tyr) n.487G>T c.412G>T (p.Asp138Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.74196050C= | CA2187574396 | STRA6 | c.364G= (p.Asp122=) c.337G= (p.Asp113=) c.475G= (p.Asp159=) n.240G= c.481G= (p.Asp161=) n.444G= n.648G= n.252-375G= c.409G= (p.Asp137=) n.636G= c.175G= (p.Asp59=) n.487G= c.412G= (p.Asp138=) | |
| 15 | g.74196050C>G | CA393138894 | STRA6 | c.364G>C (p.Asp122His) c.337G>C (p.Asp113His) c.475G>C (p.Asp159His) n.240G>C c.481G>C (p.Asp161His) n.444G>C n.648G>C n.252-375G>C c.409G>C (p.Asp137His) n.636G>C c.175G>C (p.Asp59His) n.487G>C c.412G>C (p.Asp138His) | |
| 15 | g.74196050C>T | CA393138896 | STRA6 | c.364G>A (p.Asp122Asn) c.337G>A (p.Asp113Asn) c.475G>A (p.Asp159Asn) n.240G>A c.481G>A (p.Asp161Asn) n.444G>A n.648G>A n.252-375G>A c.409G>A (p.Asp137Asn) n.636G>A c.175G>A (p.Asp59Asn) n.487G>A c.412G>A (p.Asp138Asn) | |
| 15 | g.74196051C>A | CA393138897 | STRA6 | c.363G>T (p.Glu121Asp) c.336G>T (p.Glu112Asp) c.474G>T (p.Glu158Asp) n.239G>T c.480G>T (p.Glu160Asp) n.443G>T n.647G>T n.252-376G>T c.408G>T (p.Glu136Asp) n.635G>T c.174G>T (p.Glu58Asp) n.486G>T c.411G>T (p.Glu137Asp) | |
| 15 | g.74196051C>G | CA393138899 | STRA6 | c.363G>C (p.Glu121Asp) c.336G>C (p.Glu112Asp) c.474G>C (p.Glu158Asp) n.239G>C c.480G>C (p.Glu160Asp) n.443G>C n.647G>C n.252-376G>C c.408G>C (p.Glu136Asp) n.635G>C c.174G>C (p.Glu58Asp) n.486G>C c.411G>C (p.Glu137Asp) | |
| 15 | g.74196051C>T | CA491174877 | STRA6 | c.363G>A (p.Glu121=) c.336G>A (p.Glu112=) c.474G>A (p.Glu158=) n.239G>A c.480G>A (p.Glu160=) n.443G>A n.647G>A n.252-376G>A c.408G>A (p.Glu136=) n.635G>A c.174G>A (p.Glu58=) n.486G>A c.411G>A (p.Glu137=) | |
| 15 | g.74196052T>A | CA393138904 | STRA6 | c.362A>T (p.Glu121Val) c.335A>T (p.Glu112Val) c.473A>T (p.Glu158Val) n.238A>T c.479A>T (p.Glu160Val) n.442A>T n.646A>T n.252-377A>T c.407A>T (p.Glu136Val) n.634A>T c.173A>T (p.Glu58Val) n.485A>T c.410A>T (p.Glu137Val) | |
| 15 | g.74196052T>C | CA393138906 | STRA6 | c.362A>G (p.Glu121Gly) c.335A>G (p.Glu112Gly) c.473A>G (p.Glu158Gly) n.238A>G c.479A>G (p.Glu160Gly) n.442A>G n.646A>G n.252-377A>G c.407A>G (p.Glu136Gly) n.634A>G c.173A>G (p.Glu58Gly) n.485A>G c.410A>G (p.Glu137Gly) | |
| 15 | g.74196052T>G | CA393138902 | STRA6 | c.362A>C (p.Glu121Ala) c.335A>C (p.Glu112Ala) c.473A>C (p.Glu158Ala) n.238A>C c.479A>C (p.Glu160Ala) n.442A>C n.646A>C n.252-377A>C c.407A>C (p.Glu136Ala) n.634A>C c.173A>C (p.Glu58Ala) n.485A>C c.410A>C (p.Glu137Ala) | |
| 15 | g.74196053C>A | CA393138911 | STRA6 | c.361G>T (p.Glu121Ter) c.334G>T (p.Glu112Ter) c.472G>T (p.Glu158Ter) n.237G>T c.478G>T (p.Glu160Ter) n.441G>T n.645G>T n.252-378G>T c.406G>T (p.Glu136Ter) n.633G>T c.172G>T (p.Glu58Ter) n.484G>T c.409G>T (p.Glu137Ter) | |
| 15 | g.74196053C= | CA2187574397 | STRA6 | c.361G= (p.Glu121=) c.334G= (p.Glu112=) c.472G= (p.Glu158=) n.237G= c.478G= (p.Glu160=) n.441G= n.645G= n.252-378G= c.406G= (p.Glu136=) n.633G= c.172G= (p.Glu58=) n.484G= c.409G= (p.Glu137=) | |
| 15 | g.74196053C>G | CA393138908 | STRA6 | c.361G>C (p.Glu121Gln) c.334G>C (p.Glu112Gln) c.472G>C (p.Glu158Gln) n.237G>C c.478G>C (p.Glu160Gln) n.441G>C n.645G>C n.252-378G>C c.406G>C (p.Glu136Gln) n.633G>C c.172G>C (p.Glu58Gln) n.484G>C c.409G>C (p.Glu137Gln) | |
| 15 | g.74196053C>T | CA7655021 | STRA6 | c.361G>A (p.Glu121Lys) c.334G>A (p.Glu112Lys) c.472G>A (p.Glu158Lys) n.237G>A c.478G>A (p.Glu160Lys) n.441G>A n.645G>A n.252-378G>A c.406G>A (p.Glu136Lys) n.633G>A c.172G>A (p.Glu58Lys) n.484G>A c.409G>A (p.Glu137Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74196054G>A | CA7655022 | STRA6 | c.360C>T (p.Asp120=) c.333C>T (p.Asp111=) c.471C>T (p.Asp157=) n.236C>T c.477C>T (p.Asp159=) n.440C>T n.644C>T n.252-379C>T c.405C>T (p.Asp135=) n.632C>T c.171C>T (p.Asp57=) n.483C>T c.408C>T (p.Asp136=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74196054G>C | CA393138914 | STRA6 | c.360C>G (p.Asp120Glu) c.333C>G (p.Asp111Glu) c.471C>G (p.Asp157Glu) n.236C>G c.477C>G (p.Asp159Glu) n.440C>G n.644C>G n.252-379C>G c.405C>G (p.Asp135Glu) n.632C>G c.171C>G (p.Asp57Glu) n.483C>G c.408C>G (p.Asp136Glu) | gnomAD v4 |
| 15 | g.74196054G= | CA2187574398 | STRA6 | c.360C= (p.Asp120=) c.333C= (p.Asp111=) c.471C= (p.Asp157=) n.236C= c.477C= (p.Asp159=) n.440C= n.644C= n.252-379C= c.405C= (p.Asp135=) n.632C= c.171C= (p.Asp57=) n.483C= c.408C= (p.Asp136=) | |
| 15 | g.74196054G>T | CA7655023 | STRA6 | c.360C>A (p.Asp120Glu) c.333C>A (p.Asp111Glu) c.471C>A (p.Asp157Glu) n.236C>A c.477C>A (p.Asp159Glu) n.440C>A n.644C>A n.252-379C>A c.405C>A (p.Asp135Glu) n.632C>A c.171C>A (p.Asp57Glu) n.483C>A c.408C>A (p.Asp136Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.74196055T>A | CA393138916 | STRA6 | c.359A>T (p.Asp120Val) c.332A>T (p.Asp111Val) c.470A>T (p.Asp157Val) n.235A>T c.476A>T (p.Asp159Val) n.439A>T n.643A>T n.252-380A>T c.404A>T (p.Asp135Val) n.631A>T c.170A>T (p.Asp57Val) n.482A>T c.407A>T (p.Asp136Val) | |
| 15 | g.74196055T>C | CA393138917 | STRA6 | c.359A>G (p.Asp120Gly) c.332A>G (p.Asp111Gly) c.470A>G (p.Asp157Gly) n.235A>G c.476A>G (p.Asp159Gly) n.439A>G n.643A>G n.252-380A>G c.404A>G (p.Asp135Gly) n.631A>G c.170A>G (p.Asp57Gly) n.482A>G c.407A>G (p.Asp136Gly) | |
| 15 | g.74196055T>G | CA393138918 | STRA6 | c.359A>C (p.Asp120Ala) c.332A>C (p.Asp111Ala) c.470A>C (p.Asp157Ala) n.235A>C c.476A>C (p.Asp159Ala) n.439A>C n.643A>C n.252-380A>C c.404A>C (p.Asp135Ala) n.631A>C c.170A>C (p.Asp57Ala) n.482A>C c.407A>C (p.Asp136Ala) | |
| 15 | g.74196056C>A | CA393138921 | STRA6 | c.358G>T (p.Asp120Tyr) c.331G>T (p.Asp111Tyr) c.469G>T (p.Asp157Tyr) n.234G>T c.475G>T (p.Asp159Tyr) n.438G>T n.642G>T n.252-381G>T c.403G>T (p.Asp135Tyr) n.630G>T c.169G>T (p.Asp57Tyr) n.481G>T c.406G>T (p.Asp136Tyr) | |
| 15 | g.74196056C= | CA2187574399 | STRA6 | c.358G= (p.Asp120=) c.331G= (p.Asp111=) c.469G= (p.Asp157=) n.234G= c.475G= (p.Asp159=) n.438G= n.642G= n.252-381G= c.403G= (p.Asp135=) n.630G= c.169G= (p.Asp57=) n.481G= c.406G= (p.Asp136=) | |
| 15 | g.74196056C>G | CA393138922 | STRA6 | c.358G>C (p.Asp120His) c.331G>C (p.Asp111His) c.469G>C (p.Asp157His) n.234G>C c.475G>C (p.Asp159His) n.438G>C n.642G>C n.252-381G>C c.403G>C (p.Asp135His) n.630G>C c.169G>C (p.Asp57His) n.481G>C c.406G>C (p.Asp136His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74196056C>T | CA7655024 | STRA6 | c.358G>A (p.Asp120Asn) c.331G>A (p.Asp111Asn) c.469G>A (p.Asp157Asn) n.234G>A c.475G>A (p.Asp159Asn) n.438G>A n.642G>A n.252-381G>A c.403G>A (p.Asp135Asn) n.630G>A c.169G>A (p.Asp57Asn) n.481G>A c.406G>A (p.Asp136Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74196057G>A | CA7655025 | STRA6 | c.357C>T (p.Pro119=) c.330C>T (p.Pro110=) c.468C>T (p.Pro156=) n.233C>T c.474C>T (p.Pro158=) n.437C>T n.641C>T n.252-382C>T c.402C>T (p.Pro134=) n.629C>T c.168C>T (p.Pro56=) n.480C>T c.405C>T (p.Pro135=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.74196057G>C | CA491174898 | STRA6 | c.357C>G (p.Pro119=) c.330C>G (p.Pro110=) c.468C>G (p.Pro156=) n.233C>G c.474C>G (p.Pro158=) n.437C>G n.641C>G n.252-382C>G c.402C>G (p.Pro134=) n.629C>G c.168C>G (p.Pro56=) n.480C>G c.405C>G (p.Pro135=) | |
| 15 | g.74196057G= | CA2187574400 | STRA6 | c.357C= (p.Pro119=) c.330C= (p.Pro110=) c.468C= (p.Pro156=) n.233C= c.474C= (p.Pro158=) n.437C= n.641C= n.252-382C= c.402C= (p.Pro134=) n.629C= c.168C= (p.Pro56=) n.480C= c.405C= (p.Pro135=) | |
| 15 | g.74196057G>T | CA491174895 | STRA6 | c.357C>A (p.Pro119=) c.330C>A (p.Pro110=) c.468C>A (p.Pro156=) n.233C>A c.474C>A (p.Pro158=) n.437C>A n.641C>A n.252-382C>A c.402C>A (p.Pro134=) n.629C>A c.168C>A (p.Pro56=) n.480C>A c.405C>A (p.Pro135=) | |
| 15 | g.74196058G>A | CA393138936 | STRA6 | c.356C>T (p.Pro119Leu) c.329C>T (p.Pro110Leu) c.467C>T (p.Pro156Leu) n.232C>T c.473C>T (p.Pro158Leu) n.436C>T n.640C>T n.252-383C>T c.401C>T (p.Pro134Leu) n.628C>T c.167C>T (p.Pro56Leu) n.479C>T c.404C>T (p.Pro135Leu) | |
| 15 | g.74196058G>C | CA393138938 | STRA6 | c.356C>G (p.Pro119Arg) c.329C>G (p.Pro110Arg) c.467C>G (p.Pro156Arg) n.232C>G c.473C>G (p.Pro158Arg) n.436C>G n.640C>G n.252-383C>G c.401C>G (p.Pro134Arg) n.628C>G c.167C>G (p.Pro56Arg) n.479C>G c.404C>G (p.Pro135Arg) |