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 |
|---|---|---|---|---|---|
| 11 | g.2167909G>A | CA16041465 | TH | c.601C>T (p.Gln201Ter) c.*290C>T (n.*290C>T) c.682C>T (p.Gln228Ter) c.694C>T (p.Gln232Ter) c.41C>T n.350C>T c.613C>T (p.Gln205Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167909G>C | CA379128134 | TH | c.601C>G (p.Gln201Glu) c.*290C>G (n.*290C>G) c.682C>G (p.Gln228Glu) c.694C>G (p.Gln232Glu) c.41C>G n.350C>G c.613C>G (p.Gln205Glu) | |
| 11 | g.2167909G= | CA1948007241 | TH | c.601C= (p.Gln201=) c.*290C= (n.*290C=) c.682C= (p.Gln228=) c.694C= (p.Gln232=) c.41C= n.350C= c.613C= (p.Gln205=) | |
| 11 | g.2167909G>T | CA379128131 | TH | c.601C>A (p.Gln201Lys) c.*290C>A (n.*290C>A) c.682C>A (p.Gln228Lys) c.694C>A (p.Gln232Lys) c.41C>A n.350C>A c.613C>A (p.Gln205Lys) | |
| 11 | g.2167910G>A | CA5818579 | TH | c.600C>T (p.Arg200=) c.*289C>T (n.*289C>T) c.681C>T (p.Arg227=) c.693C>T (p.Arg231=) c.40C>T n.349C>T c.612C>T (p.Arg204=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167910G>C | CA472035166 | TH | c.600C>G (p.Arg200=) c.*289C>G (n.*289C>G) c.681C>G (p.Arg227=) c.693C>G (p.Arg231=) c.40C>G n.349C>G c.612C>G (p.Arg204=) | |
| 11 | g.2167910G= | CA1948007244 | TH | c.600C= (p.Arg200=) c.*289C= (n.*289C=) c.681C= (p.Arg227=) c.693C= (p.Arg231=) c.40C= n.349C= c.612C= (p.Arg204=) | |
| 11 | g.2167910G>T | CA472035167 | TH | c.600C>A (p.Arg200=) c.*289C>A (n.*289C>A) c.681C>A (p.Arg227=) c.693C>A (p.Arg231=) c.40C>A n.349C>A c.612C>A (p.Arg204=) | |
| 11 | g.2167911C>A | CA379128138 | TH | c.599G>T (p.Arg200Leu) c.*288G>T (n.*288G>T) c.680G>T (p.Arg227Leu) c.692G>T (p.Arg231Leu) c.39G>T n.348G>T c.611G>T (p.Arg204Leu) | gnomAD v4 |
| 11 | g.2167911C= | CA1948007245 | TH | c.599G= (p.Arg200=) c.*288G= (n.*288G=) c.680G= (p.Arg227=) c.692G= (p.Arg231=) c.39G= n.348G= c.611G= (p.Arg204=) | |
| 11 | g.2167911C>G | CA379128140 | TH | c.599G>C (p.Arg200Pro) c.*288G>C (n.*288G>C) c.680G>C (p.Arg227Pro) c.692G>C (p.Arg231Pro) c.39G>C n.348G>C c.611G>C (p.Arg204Pro) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2167911C>T | CA5818580 | TH | c.599G>A (p.Arg200His) c.*288G>A (n.*288G>A) c.680G>A (p.Arg227His) c.692G>A (p.Arg231His) c.39G>A n.348G>A c.611G>A (p.Arg204His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167912G>A | CA379128148 | TH | c.598C>T (p.Arg200Cys) c.*287C>T (n.*287C>T) c.679C>T (p.Arg227Cys) c.691C>T (p.Arg231Cys) c.38C>T n.347C>T c.610C>T (p.Arg204Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167912G>C | CA379128144 | TH | c.598C>G (p.Arg200Gly) c.*287C>G (n.*287C>G) c.679C>G (p.Arg227Gly) c.691C>G (p.Arg231Gly) c.38C>G n.347C>G c.610C>G (p.Arg204Gly) | |
| 11 | g.2167912G= | CA1948007247 | TH | c.598C= (p.Arg200=) c.*287C= (n.*287C=) c.679C= (p.Arg227=) c.691C= (p.Arg231=) c.38C= n.347C= c.610C= (p.Arg204=) | |
| 11 | g.2167912G>T | CA379128146 | TH | c.598C>A (p.Arg200Ser) c.*287C>A (n.*287C>A) c.679C>A (p.Arg227Ser) c.691C>A (p.Arg231Ser) c.38C>A n.347C>A c.610C>A (p.Arg204Ser) | |
| 11 | g.2167913G>A | CA472035168 | TH | c.597C>T (p.Tyr199=) c.*286C>T (n.*286C>T) c.678C>T (p.Tyr226=) c.690C>T (p.Tyr230=) c.37C>T n.346C>T c.609C>T (p.Tyr203=) | ClinVar gnomAD v4 |
| 11 | g.2167913G>C | CA379128150 | TH | c.597C>G (p.Tyr199Ter) c.*286C>G (n.*286C>G) c.678C>G (p.Tyr226Ter) c.690C>G (p.Tyr230Ter) c.37C>G n.346C>G c.609C>G (p.Tyr203Ter) | |
| 11 | g.2167913G= | CA1948007249 | TH | c.597C= (p.Tyr199=) c.*286C= (n.*286C=) c.678C= (p.Tyr226=) c.690C= (p.Tyr230=) c.37C= n.346C= c.609C= (p.Tyr203=) | |
| 11 | g.2167913G>T | CA379128153 | TH | c.597C>A (p.Tyr199Ter) c.*286C>A (n.*286C>A) c.678C>A (p.Tyr226Ter) c.690C>A (p.Tyr230Ter) c.37C>A n.346C>A c.609C>A (p.Tyr203Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2167914T>A | CA379128156 | TH | c.596A>T (p.Tyr199Phe) c.*285A>T (n.*285A>T) c.677A>T (p.Tyr226Phe) c.689A>T (p.Tyr230Phe) c.36A>T n.345A>T c.608A>T (p.Tyr203Phe) | |
| 11 | g.2167914T>C | CA379128157 | TH | c.596A>G (p.Tyr199Cys) c.*285A>G (n.*285A>G) c.677A>G (p.Tyr226Cys) c.689A>G (p.Tyr230Cys) c.36A>G n.345A>G c.608A>G (p.Tyr203Cys) | |
| 11 | g.2167914T>G | CA379128159 | TH | c.596A>C (p.Tyr199Ser) c.*285A>C (n.*285A>C) c.677A>C (p.Tyr226Ser) c.689A>C (p.Tyr230Ser) c.36A>C n.345A>C c.608A>C (p.Tyr203Ser) | |
| 11 | g.2167915A>C | CA379128161 | TH | c.595T>G (p.Tyr199Asp) c.*284T>G (n.*284T>G) c.676T>G (p.Tyr226Asp) c.688T>G (p.Tyr230Asp) c.35T>G n.344T>G c.607T>G (p.Tyr203Asp) | |
| 11 | g.2167915A>G | CA379128163 | TH | c.595T>C (p.Tyr199His) c.*284T>C (n.*284T>C) c.676T>C (p.Tyr226His) c.688T>C (p.Tyr230His) c.35T>C n.344T>C c.607T>C (p.Tyr203His) | |
| 11 | g.2167915A>T | CA379128165 | TH | c.595T>A (p.Tyr199Asn) c.*284T>A (n.*284T>A) c.676T>A (p.Tyr226Asn) c.688T>A (p.Tyr230Asn) c.35T>A n.344T>A c.607T>A (p.Tyr203Asn) | |
| 11 | g.2167916C>A | CA5818581 | TH | c.594G>T (p.Val198=) c.*283G>T (n.*283G>T) c.675G>T (p.Val225=) c.687G>T (p.Val229=) c.34G>T n.343G>T c.606G>T (p.Val202=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2167916C= | CA1948007250 | TH | c.594G= (p.Val198=) c.*283G= (n.*283G=) c.675G= (p.Val225=) c.687G= (p.Val229=) c.34G= n.343G= c.606G= (p.Val202=) | |
| 11 | g.2167916C>G | CA472035169 | TH | c.594G>C (p.Val198=) c.*283G>C (n.*283G>C) c.675G>C (p.Val225=) c.687G>C (p.Val229=) c.34G>C n.343G>C c.606G>C (p.Val202=) | |
| 11 | g.2167916C>T | CA5818582 | TH | c.594G>A (p.Val198=) c.*283G>A (n.*283G>A) c.675G>A (p.Val225=) c.687G>A (p.Val229=) c.34G>A n.343G>A c.606G>A (p.Val202=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2167917A>C | CA379128168 | TH | c.593T>G (p.Val198Gly) c.*282T>G (n.*282T>G) c.674T>G (p.Val225Gly) c.686T>G (p.Val229Gly) c.33T>G n.342T>G c.605T>G (p.Val202Gly) | |
| 11 | g.2167917A>G | CA379128169 | TH | c.593T>C (p.Val198Ala) c.*282T>C (n.*282T>C) c.674T>C (p.Val225Ala) c.686T>C (p.Val229Ala) c.33T>C n.342T>C c.605T>C (p.Val202Ala) | |
| 11 | g.2167917A>T | CA379128171 | TH | c.593T>A (p.Val198Glu) c.*282T>A (n.*282T>A) c.674T>A (p.Val225Glu) c.686T>A (p.Val229Glu) c.33T>A n.342T>A c.605T>A (p.Val202Glu) | |
| 11 | g.2167918C>A | CA379128178 | TH | c.592G>T (p.Val198Leu) c.*281G>T (n.*281G>T) c.673G>T (p.Val225Leu) c.685G>T (p.Val229Leu) c.32G>T n.341G>T c.604G>T (p.Val202Leu) | gnomAD v4 |
| 11 | g.2167918C= | CA1948007256 | TH | c.592G= (p.Val198=) c.*281G= (n.*281G=) c.673G= (p.Val225=) c.685G= (p.Val229=) c.32G= n.341G= c.604G= (p.Val202=) | |
| 11 | g.2167918C>G | CA379128174 | TH | c.592G>C (p.Val198Leu) c.*281G>C (n.*281G>C) c.673G>C (p.Val225Leu) c.685G>C (p.Val229Leu) c.32G>C n.341G>C c.604G>C (p.Val202Leu) | dbSNP |
| 11 | g.2167918C>T | CA379128176 | TH | c.592G>A (p.Val198Met) c.*281G>A (n.*281G>A) c.673G>A (p.Val225Met) c.685G>A (p.Val229Met) c.32G>A n.341G>A c.604G>A (p.Val202Met) | gnomAD v4 |
| 11 | g.2167919del | CA2697558820 | TH | c.592del (p.Val198CysfsTer8) c.*281del (n.*281del) c.673del (p.Val225CysfsTer8) c.685del (p.Val229CysfsTer8) c.32del n.341del c.604del (p.Val202CysfsTer8) | ClinVar |
| 11 | g.2167919C>A | CA379128180 | TH | c.591G>T (p.Gln197His) c.*280G>T (n.*280G>T) c.672G>T (p.Gln224His) c.684G>T (p.Gln228His) c.31G>T n.340G>T c.603G>T (p.Gln201His) | gnomAD v4 |
| 11 | g.2167919C>G | CA379128182 | TH | c.591G>C (p.Gln197His) c.*280G>C (n.*280G>C) c.672G>C (p.Gln224His) c.684G>C (p.Gln228His) c.31G>C n.340G>C c.603G>C (p.Gln201His) | gnomAD v4 |
| 11 | g.2167919C>T | CA472035170 | TH | c.591G>A (p.Gln197=) c.*280G>A (n.*280G>A) c.672G>A (p.Gln224=) c.684G>A (p.Gln228=) c.31G>A n.340G>A c.603G>A (p.Gln201=) | |
| 11 | g.2167920T>A | CA379128185 | TH | c.590A>T (p.Gln197Leu) c.*279A>T (n.*279A>T) c.671A>T (p.Gln224Leu) c.683A>T (p.Gln228Leu) c.30A>T n.339A>T c.602A>T (p.Gln201Leu) | |
| 11 | g.2167920T>C | CA379128186 | TH | c.590A>G (p.Gln197Arg) c.*279A>G (n.*279A>G) c.671A>G (p.Gln224Arg) c.683A>G (p.Gln228Arg) c.30A>G n.339A>G c.602A>G (p.Gln201Arg) | |
| 11 | g.2167920T>G | CA379128189 | TH | c.590A>C (p.Gln197Pro) c.*279A>C (n.*279A>C) c.671A>C (p.Gln224Pro) c.683A>C (p.Gln228Pro) c.30A>C n.339A>C c.602A>C (p.Gln201Pro) | |
| 11 | g.2167921G>A | CA379128190 | TH | c.589C>T (p.Gln197Ter) c.*278C>T (n.*278C>T) c.670C>T (p.Gln224Ter) c.682C>T (p.Gln228Ter) c.29C>T n.338C>T c.601C>T (p.Gln201Ter) | |
| 11 | g.2167921G>C | CA379128192 | TH | c.589C>G (p.Gln197Glu) c.*278C>G (n.*278C>G) c.670C>G (p.Gln224Glu) c.682C>G (p.Gln228Glu) c.29C>G n.338C>G c.601C>G (p.Gln201Glu) | |
| 11 | g.2167921G>T | CA379128194 | TH | c.589C>A (p.Gln197Lys) c.*278C>A (n.*278C>A) c.670C>A (p.Gln224Lys) c.682C>A (p.Gln228Lys) c.29C>A n.338C>A c.601C>A (p.Gln201Lys) | |
| 11 | g.2167922dup | CA2611971190 | TH | c.589dup (p.Gln197ProfsTer12) c.*278dup (n.*278dup) c.670dup (p.Gln224ProfsTer12) c.682dup (p.Gln228ProfsTer12) c.29dup n.338dup c.601dup (p.Gln201ProfsTer12) | gnomAD v4 |
| 11 | g.2167922G>A | CA472035171 | TH | c.588C>T (p.Asp196=) c.*277C>T (n.*277C>T) c.669C>T (p.Asp223=) c.681C>T (p.Asp227=) c.28C>T n.337C>T c.600C>T (p.Asp200=) | |
| 11 | g.2167922G>C | CA379128196 | TH | c.588C>G (p.Asp196Glu) c.*277C>G (n.*277C>G) c.669C>G (p.Asp223Glu) c.681C>G (p.Asp227Glu) c.28C>G n.337C>G c.600C>G (p.Asp200Glu) |