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 |
|---|---|---|---|---|---|
| 4 | g.105399037C>A | CA357790242 | PPA2 | c.783G>T (p.Lys261Asn) c.696G>T (p.Lys232Asn) c.*505G>T (n.*505G>T) c.285G>T (p.Lys95Asn) c.477G>T (p.Lys159Asn) n.475G>T c.*542G>T (n.*542G>T) n.792G>T c.564G>T (p.Lys188Asn) n.600G>T c.143-28164G>T | |
| 4 | g.105399037C>G | CA357790245 | PPA2 | c.783G>C (p.Lys261Asn) c.696G>C (p.Lys232Asn) c.*505G>C (n.*505G>C) c.285G>C (p.Lys95Asn) c.477G>C (p.Lys159Asn) n.475G>C c.*542G>C (n.*542G>C) n.792G>C c.564G>C (p.Lys188Asn) n.600G>C c.143-28164G>C | gnomAD v4 |
| 4 | g.105399037C>T | CA440539217 | PPA2 | c.783G>A (p.Lys261=) c.696G>A (p.Lys232=) c.*505G>A (n.*505G>A) c.285G>A (p.Lys95=) c.477G>A (p.Lys159=) n.475G>A c.*542G>A (n.*542G>A) n.792G>A c.564G>A (p.Lys188=) n.600G>A c.143-28164G>A | |
| 4 | g.105399038T>A | CA357790249 | PPA2 | c.782A>T (p.Lys261Met) c.695A>T (p.Lys232Met) c.*504A>T (n.*504A>T) c.284A>T (p.Lys95Met) c.476A>T (p.Lys159Met) n.474A>T c.*541A>T (n.*541A>T) n.791A>T c.563A>T (p.Lys188Met) n.599A>T c.143-28165A>T | |
| 4 | g.105399038T>C | CA357790251 | PPA2 | c.782A>G (p.Lys261Arg) c.695A>G (p.Lys232Arg) c.*504A>G (n.*504A>G) c.284A>G (p.Lys95Arg) c.476A>G (p.Lys159Arg) n.474A>G c.*541A>G (n.*541A>G) n.791A>G c.563A>G (p.Lys188Arg) n.599A>G c.143-28165A>G | gnomAD v4 |
| 4 | g.105399038T>G | CA357790255 | PPA2 | c.782A>C (p.Lys261Thr) c.695A>C (p.Lys232Thr) c.*504A>C (n.*504A>C) c.284A>C (p.Lys95Thr) c.476A>C (p.Lys159Thr) n.474A>C c.*541A>C (n.*541A>C) n.791A>C c.563A>C (p.Lys188Thr) n.599A>C c.143-28165A>C | |
| 4 | g.105399039T>A | CA357790259 | PPA2 | c.781A>T (p.Lys261Ter) c.694A>T (p.Lys232Ter) c.*503A>T (n.*503A>T) c.283A>T (p.Lys95Ter) c.475A>T (p.Lys159Ter) n.473A>T c.*540A>T (n.*540A>T) n.790A>T c.562A>T (p.Lys188Ter) n.598A>T c.143-28166A>T | |
| 4 | g.105399039T>C | CA357790261 | PPA2 | c.781A>G (p.Lys261Glu) c.694A>G (p.Lys232Glu) c.*503A>G (n.*503A>G) c.283A>G (p.Lys95Glu) c.475A>G (p.Lys159Glu) n.473A>G c.*540A>G (n.*540A>G) n.790A>G c.562A>G (p.Lys188Glu) n.598A>G c.143-28166A>G | ClinVar dbSNP gnomAD v4 |
| 4 | g.105399039T>G | CA357790262 | PPA2 | c.781A>C (p.Lys261Gln) c.694A>C (p.Lys232Gln) c.*503A>C (n.*503A>C) c.283A>C (p.Lys95Gln) c.475A>C (p.Lys159Gln) n.473A>C c.*540A>C (n.*540A>C) n.790A>C c.562A>C (p.Lys188Gln) n.598A>C c.143-28166A>C | |
| 4 | g.105399039T= | CA1482764766 | PPA2 | c.781A= (p.Lys261=) c.694A= (p.Lys232=) c.*503A= (n.*503A=) c.283A= (p.Lys95=) c.475A= (p.Lys159=) n.473A= c.*540A= (n.*540A=) n.790A= c.562A= (p.Lys188=) n.598A= c.143-28166A= | |
| 4 | g.105399040G>A | CA440539221 | PPA2 | c.780C>T (p.Asn260=) c.693C>T (p.Asn231=) c.*502C>T (n.*502C>T) c.282C>T (p.Asn94=) c.474C>T (p.Asn158=) n.472C>T c.*539C>T (n.*539C>T) n.789C>T c.561C>T (p.Asn187=) n.597C>T c.143-28167C>T | |
| 4 | g.105399040G>C | CA357790263 | PPA2 | c.780C>G (p.Asn260Lys) c.693C>G (p.Asn231Lys) c.*502C>G (n.*502C>G) c.282C>G (p.Asn94Lys) c.474C>G (p.Asn158Lys) n.472C>G c.*539C>G (n.*539C>G) n.789C>G c.561C>G (p.Asn187Lys) n.597C>G c.143-28167C>G | |
| 4 | g.105399040G>T | CA357790264 | PPA2 | c.780C>A (p.Asn260Lys) c.693C>A (p.Asn231Lys) c.*502C>A (n.*502C>A) c.282C>A (p.Asn94Lys) c.474C>A (p.Asn158Lys) n.472C>A c.*539C>A (n.*539C>A) n.789C>A c.561C>A (p.Asn187Lys) n.597C>A c.143-28167C>A | gnomAD v4 |
| 4 | g.105399040_105399041delinsGT | CA1482764770 | PPA2 | c.779_780delinsAC (p.Asn260=) c.692_693delinsAC (p.Asn231=) c.*501_*502delinsAC (n.*501_*502delinsAC) c.281_282delinsAC (p.Asn94=) c.473_474delinsAC (p.Asn158=) n.471_472delinsAC c.*538_*539delinsAC (n.*538_*539delinsAC) n.788_789delinsAC c.560_561delinsAC (p.Asn187=) n.596_597delinsAC c.143-28168_143-28167delinsAC | |
| 4 | g.105399041T>A | CA357790268 | PPA2 | c.779A>T (p.Asn260Ile) c.692A>T (p.Asn231Ile) c.*501A>T (n.*501A>T) c.281A>T (p.Asn94Ile) c.473A>T (p.Asn158Ile) n.471A>T c.*538A>T (n.*538A>T) n.788A>T c.560A>T (p.Asn187Ile) n.596A>T c.143-28168A>T | |
| 4 | g.105399041T>C | CA102782389 | PPA2 | c.779A>G (p.Asn260Ser) c.692A>G (p.Asn231Ser) c.*501A>G (n.*501A>G) c.281A>G (p.Asn94Ser) c.473A>G (p.Asn158Ser) n.471A>G c.*538A>G (n.*538A>G) n.788A>G c.560A>G (p.Asn187Ser) n.596A>G c.143-28168A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399041T>G | CA357790266 | PPA2 | c.779A>C (p.Asn260Thr) c.692A>C (p.Asn231Thr) c.*501A>C (n.*501A>C) c.281A>C (p.Asn94Thr) c.473A>C (p.Asn158Thr) n.471A>C c.*538A>C (n.*538A>C) n.788A>C c.560A>C (p.Asn187Thr) n.596A>C c.143-28168A>C | |
| 4 | g.105399041T= | CA1482764773 | PPA2 | c.779A= (p.Asn260=) c.692A= (p.Asn231=) c.*501A= (n.*501A=) c.281A= (p.Asn94=) c.473A= (p.Asn158=) n.471A= c.*538A= (n.*538A=) n.788A= c.560A= (p.Asn187=) n.596A= c.143-28168A= | |
| 4 | g.105399045del | CA3032437 | PPA2 | c.779del (p.Asn260ThrfsTer21) c.692del (p.Asn231ThrfsTer21) c.*501del (n.*501del) c.281del (p.Asn94ThrfsTer21) c.473del (p.Asn158ThrfsTer21) n.471del c.*538del (n.*538del) n.788del c.560del (p.Asn187ThrfsTer?) n.596del c.143-28168del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399042T>A | CA357790270 | PPA2 | c.778A>T (p.Asn260Tyr) c.691A>T (p.Asn231Tyr) c.*500A>T (n.*500A>T) c.280A>T (p.Asn94Tyr) c.472A>T (p.Asn158Tyr) n.470A>T c.*537A>T (n.*537A>T) n.787A>T c.559A>T (p.Asn187Tyr) n.595A>T c.143-28169A>T | |
| 4 | g.105399042T>C | CA357790273 | PPA2 | c.778A>G (p.Asn260Asp) c.691A>G (p.Asn231Asp) c.*500A>G (n.*500A>G) c.280A>G (p.Asn94Asp) c.472A>G (p.Asn158Asp) n.470A>G c.*537A>G (n.*537A>G) n.787A>G c.559A>G (p.Asn187Asp) n.595A>G c.143-28169A>G | |
| 4 | g.105399042T>G | CA357790276 | PPA2 | c.778A>C (p.Asn260His) c.691A>C (p.Asn231His) c.*500A>C (n.*500A>C) c.280A>C (p.Asn94His) c.472A>C (p.Asn158His) n.470A>C c.*537A>C (n.*537A>C) n.787A>C c.559A>C (p.Asn187His) n.595A>C c.143-28169A>C | gnomAD v4 |
| 4 | g.105399043T>A | CA357790280 | PPA2 | c.777A>T (p.Lys259Asn) c.690A>T (p.Lys230Asn) c.*499A>T (n.*499A>T) c.279A>T (p.Lys93Asn) c.471A>T (p.Lys157Asn) n.469A>T c.*536A>T (n.*536A>T) n.786A>T c.558A>T (p.Lys186Asn) n.594A>T c.143-28170A>T | |
| 4 | g.105399043T>C | CA440539223 | PPA2 | c.777A>G (p.Lys259=) c.690A>G (p.Lys230=) c.*499A>G (n.*499A>G) c.279A>G (p.Lys93=) c.471A>G (p.Lys157=) n.469A>G c.*536A>G (n.*536A>G) n.786A>G c.558A>G (p.Lys186=) n.594A>G c.143-28170A>G | |
| 4 | g.105399043T>G | CA357790283 | PPA2 | c.777A>C (p.Lys259Asn) c.690A>C (p.Lys230Asn) c.*499A>C (n.*499A>C) c.279A>C (p.Lys93Asn) c.471A>C (p.Lys157Asn) n.469A>C c.*536A>C (n.*536A>C) n.786A>C c.558A>C (p.Lys186Asn) n.594A>C c.143-28170A>C | |
| 4 | g.105399044T>A | CA357790287 | PPA2 | c.776A>T (p.Lys259Ile) c.689A>T (p.Lys230Ile) c.*498A>T (n.*498A>T) c.278A>T (p.Lys93Ile) c.470A>T (p.Lys157Ile) n.468A>T c.*535A>T (n.*535A>T) n.785A>T c.557A>T (p.Lys186Ile) n.593A>T c.143-28171A>T | |
| 4 | g.105399044T>C | CA357790294 | PPA2 | c.776A>G (p.Lys259Arg) c.689A>G (p.Lys230Arg) c.*498A>G (n.*498A>G) c.278A>G (p.Lys93Arg) c.470A>G (p.Lys157Arg) n.468A>G c.*535A>G (n.*535A>G) n.785A>G c.557A>G (p.Lys186Arg) n.593A>G c.143-28171A>G | dbSNP gnomAD v4 |
| 4 | g.105399044T>G | CA357790297 | PPA2 | c.776A>C (p.Lys259Thr) c.689A>C (p.Lys230Thr) c.*498A>C (n.*498A>C) c.278A>C (p.Lys93Thr) c.470A>C (p.Lys157Thr) n.468A>C c.*535A>C (n.*535A>C) n.785A>C c.557A>C (p.Lys186Thr) n.593A>C c.143-28171A>C | |
| 4 | g.105399044T= | CA1482764777 | PPA2 | c.776A= (p.Lys259=) c.689A= (p.Lys230=) c.*498A= (n.*498A=) c.278A= (p.Lys93=) c.470A= (p.Lys157=) n.468A= c.*535A= (n.*535A=) n.785A= c.557A= (p.Lys186=) n.593A= c.143-28171A= | |
| 4 | g.105399045T>A | CA357790301 | PPA2 | c.775A>T (p.Lys259Ter) c.688A>T (p.Lys230Ter) c.*497A>T (n.*497A>T) c.277A>T (p.Lys93Ter) c.469A>T (p.Lys157Ter) n.467A>T c.*534A>T (n.*534A>T) n.784A>T c.556A>T (p.Lys186Ter) n.592A>T c.143-28172A>T | |
| 4 | g.105399045T>C | CA357790304 | PPA2 | c.775A>G (p.Lys259Glu) c.688A>G (p.Lys230Glu) c.*497A>G (n.*497A>G) c.277A>G (p.Lys93Glu) c.469A>G (p.Lys157Glu) n.467A>G c.*534A>G (n.*534A>G) n.784A>G c.556A>G (p.Lys186Glu) n.592A>G c.143-28172A>G | dbSNP |
| 4 | g.105399045T>G | CA357790307 | PPA2 | c.775A>C (p.Lys259Gln) c.688A>C (p.Lys230Gln) c.*497A>C (n.*497A>C) c.277A>C (p.Lys93Gln) c.469A>C (p.Lys157Gln) n.467A>C c.*534A>C (n.*534A>C) n.784A>C c.556A>C (p.Lys186Gln) n.592A>C c.143-28172A>C | |
| 4 | g.105399045T= | CA1482764781 | PPA2 | c.775A= (p.Lys259=) c.688A= (p.Lys230=) c.*497A= (n.*497A=) c.277A= (p.Lys93=) c.469A= (p.Lys157=) n.467A= c.*534A= (n.*534A=) n.784A= c.556A= (p.Lys186=) n.592A= c.143-28172A= | |
| 4 | g.105399046G>A | CA440539227 | PPA2 | c.774C>T (p.Phe258=) c.687C>T (p.Phe229=) c.*496C>T (n.*496C>T) c.276C>T (p.Phe92=) c.468C>T (p.Phe156=) n.466C>T c.*533C>T (n.*533C>T) n.783C>T c.555C>T (p.Phe185=) n.591C>T c.143-28173C>T | |
| 4 | g.105399046G>C | CA357790310 | PPA2 | c.774C>G (p.Phe258Leu) c.687C>G (p.Phe229Leu) c.*496C>G (n.*496C>G) c.276C>G (p.Phe92Leu) c.468C>G (p.Phe156Leu) n.466C>G c.*533C>G (n.*533C>G) n.783C>G c.555C>G (p.Phe185Leu) n.591C>G c.143-28173C>G | |
| 4 | g.105399046G>T | CA357790313 | PPA2 | c.774C>A (p.Phe258Leu) c.687C>A (p.Phe229Leu) c.*496C>A (n.*496C>A) c.276C>A (p.Phe92Leu) c.468C>A (p.Phe156Leu) n.466C>A c.*533C>A (n.*533C>A) n.783C>A c.555C>A (p.Phe185Leu) n.591C>A c.143-28173C>A | |
| 4 | g.105399047A>C | CA357790317 | PPA2 | c.773T>G (p.Phe258Cys) c.686T>G (p.Phe229Cys) c.*495T>G (n.*495T>G) c.275T>G (p.Phe92Cys) c.467T>G (p.Phe156Cys) n.465T>G c.*532T>G (n.*532T>G) n.782T>G c.554T>G (p.Phe185Cys) n.590T>G c.143-28174T>G | |
| 4 | g.105399047A>G | CA357790327 | PPA2 | c.773T>C (p.Phe258Ser) c.686T>C (p.Phe229Ser) c.*495T>C (n.*495T>C) c.275T>C (p.Phe92Ser) c.467T>C (p.Phe156Ser) n.465T>C c.*532T>C (n.*532T>C) n.782T>C c.554T>C (p.Phe185Ser) n.590T>C c.143-28174T>C | |
| 4 | g.105399047A>T | CA357790319 | PPA2 | c.773T>A (p.Phe258Tyr) c.686T>A (p.Phe229Tyr) c.*495T>A (n.*495T>A) c.275T>A (p.Phe92Tyr) c.467T>A (p.Phe156Tyr) n.465T>A c.*532T>A (n.*532T>A) n.782T>A c.554T>A (p.Phe185Tyr) n.590T>A c.143-28174T>A | |
| 4 | g.105399048A= | CA1482764785 | PPA2 | c.772T= (p.Phe258=) c.685T= (p.Phe229=) c.*494T= (n.*494T=) c.274T= (p.Phe92=) c.466T= (p.Phe156=) n.464T= c.*531T= (n.*531T=) n.781T= c.553T= (p.Phe185=) n.589T= c.143-28175T= | |
| 4 | g.105399048A>C | CA357790330 | PPA2 | c.772T>G (p.Phe258Val) c.685T>G (p.Phe229Val) c.*494T>G (n.*494T>G) c.274T>G (p.Phe92Val) c.466T>G (p.Phe156Val) n.464T>G c.*531T>G (n.*531T>G) n.781T>G c.553T>G (p.Phe185Val) n.589T>G c.143-28175T>G | |
| 4 | g.105399048A>G | CA3032438 | PPA2 | c.772T>C (p.Phe258Leu) c.685T>C (p.Phe229Leu) c.*494T>C (n.*494T>C) c.274T>C (p.Phe92Leu) c.466T>C (p.Phe156Leu) n.464T>C c.*531T>C (n.*531T>C) n.781T>C c.553T>C (p.Phe185Leu) n.589T>C c.143-28175T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399048A>T | CA357790335 | PPA2 | c.772T>A (p.Phe258Ile) c.685T>A (p.Phe229Ile) c.*494T>A (n.*494T>A) c.274T>A (p.Phe92Ile) c.466T>A (p.Phe156Ile) n.464T>A c.*531T>A (n.*531T>A) n.781T>A c.553T>A (p.Phe185Ile) n.589T>A c.143-28175T>A | gnomAD v4 |
| 4 | g.105399049T>A | CA357790339 | PPA2 | c.771A>T (p.Glu257Asp) c.684A>T (p.Glu228Asp) c.*493A>T (n.*493A>T) c.273A>T (p.Glu91Asp) c.465A>T (p.Glu155Asp) n.463A>T c.*530A>T (n.*530A>T) n.780A>T c.552A>T (p.Glu184Asp) n.588A>T c.143-28176A>T | |
| 4 | g.105399049T>C | CA440539229 | PPA2 | c.771A>G (p.Glu257=) c.684A>G (p.Glu228=) c.*493A>G (n.*493A>G) c.273A>G (p.Glu91=) c.465A>G (p.Glu155=) n.463A>G c.*530A>G (n.*530A>G) n.780A>G c.552A>G (p.Glu184=) n.588A>G c.143-28176A>G | |
| 4 | g.105399049T>G | CA357790342 | PPA2 | c.771A>C (p.Glu257Asp) c.684A>C (p.Glu228Asp) c.*493A>C (n.*493A>C) c.273A>C (p.Glu91Asp) c.465A>C (p.Glu155Asp) n.463A>C c.*530A>C (n.*530A>C) n.780A>C c.552A>C (p.Glu184Asp) n.588A>C c.143-28176A>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.105399049T= | CA1482764788 | PPA2 | c.771A= (p.Glu257=) c.684A= (p.Glu228=) c.*493A= (n.*493A=) c.273A= (p.Glu91=) c.465A= (p.Glu155=) n.463A= c.*530A= (n.*530A=) n.780A= c.552A= (p.Glu184=) n.588A= c.143-28176A= | |
| 4 | g.105399050T>A | CA357790347 | PPA2 | c.770A>T (p.Glu257Val) c.683A>T (p.Glu228Val) c.*492A>T (n.*492A>T) c.272A>T (p.Glu91Val) c.464A>T (p.Glu155Val) n.462A>T c.*529A>T (n.*529A>T) n.779A>T c.551A>T (p.Glu184Val) n.587A>T c.143-28177A>T | |
| 4 | g.105399050T>C | CA357790351 | PPA2 | c.770A>G (p.Glu257Gly) c.683A>G (p.Glu228Gly) c.*492A>G (n.*492A>G) c.272A>G (p.Glu91Gly) c.464A>G (p.Glu155Gly) n.462A>G c.*529A>G (n.*529A>G) n.779A>G c.551A>G (p.Glu184Gly) n.587A>G c.143-28177A>G | |
| 4 | g.105399050T>G | CA357790354 | PPA2 | c.770A>C (p.Glu257Ala) c.683A>C (p.Glu228Ala) c.*492A>C (n.*492A>C) c.272A>C (p.Glu91Ala) c.464A>C (p.Glu155Ala) n.462A>C c.*529A>C (n.*529A>C) n.779A>C c.551A>C (p.Glu184Ala) n.587A>C c.143-28177A>C |