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 |
|---|---|---|---|---|---|
| 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.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.105399046_105399048del | CA2762949741 | PPA2 | c.772_774del (p.Phe258del) c.685_687del (p.Phe229del) c.*494_*496del (n.*494_*496del) c.274_276del (p.Phe92del) c.466_468del (p.Phe156del) n.464_466del c.*531_*533del (n.*531_*533del) n.781_783del c.553_555del (p.Phe185del) n.589_591del c.143-28175_143-28173del | |
| 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 | |
| 4 | g.105399051C>A | CA357790357 | PPA2 | c.769G>T (p.Glu257Ter) c.682G>T (p.Glu228Ter) c.*491G>T (n.*491G>T) c.271G>T (p.Glu91Ter) c.463G>T (p.Glu155Ter) n.461G>T c.*528G>T (n.*528G>T) n.778G>T c.550G>T (p.Glu184Ter) n.586G>T c.143-28178G>T | gnomAD v4 COSMIC COSMIC |
| 4 | g.105399051C= | CA1482764790 | PPA2 | c.769G= (p.Glu257=) c.682G= (p.Glu228=) c.*491G= (n.*491G=) c.271G= (p.Glu91=) c.463G= (p.Glu155=) n.461G= c.*528G= (n.*528G=) n.778G= c.550G= (p.Glu184=) n.586G= c.143-28178G= | |
| 4 | g.105399051C>G | CA357790359 | PPA2 | c.769G>C (p.Glu257Gln) c.682G>C (p.Glu228Gln) c.*491G>C (n.*491G>C) c.271G>C (p.Glu91Gln) c.463G>C (p.Glu155Gln) n.461G>C c.*528G>C (n.*528G>C) n.778G>C c.550G>C (p.Glu184Gln) n.586G>C c.143-28178G>C | |
| 4 | g.105399051C>T | CA357790362 | PPA2 | c.769G>A (p.Glu257Lys) c.682G>A (p.Glu228Lys) c.*491G>A (n.*491G>A) c.271G>A (p.Glu91Lys) c.463G>A (p.Glu155Lys) n.461G>A c.*528G>A (n.*528G>A) n.778G>A c.550G>A (p.Glu184Lys) n.586G>A c.143-28178G>A | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.105399052T>A | CA440539231 | PPA2 | c.768A>T (p.Gly256=) c.681A>T (p.Gly227=) c.*490A>T (n.*490A>T) c.270A>T (p.Gly90=) c.462A>T (p.Gly154=) n.460A>T c.*527A>T (n.*527A>T) n.777A>T c.549A>T (p.Gly183=) n.585A>T c.143-28179A>T | |
| 4 | g.105399052T>C | CA102782408 | PPA2 | c.768A>G (p.Gly256=) c.681A>G (p.Gly227=) c.*490A>G (n.*490A>G) c.270A>G (p.Gly90=) c.462A>G (p.Gly154=) n.460A>G c.*527A>G (n.*527A>G) n.777A>G c.549A>G (p.Gly183=) n.585A>G c.143-28179A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.105399052T>G | CA440539232 | PPA2 | c.768A>C (p.Gly256=) c.681A>C (p.Gly227=) c.*490A>C (n.*490A>C) c.270A>C (p.Gly90=) c.462A>C (p.Gly154=) n.460A>C c.*527A>C (n.*527A>C) n.777A>C c.549A>C (p.Gly183=) n.585A>C c.143-28179A>C | |
| 4 | g.105399052T= | CA1482764793 | PPA2 | c.768A= (p.Gly256=) c.681A= (p.Gly227=) c.*490A= (n.*490A=) c.270A= (p.Gly90=) c.462A= (p.Gly154=) n.460A= c.*527A= (n.*527A=) n.777A= c.549A= (p.Gly183=) n.585A= c.143-28179A= | |
| 4 | g.105399053C>A | CA357790369 | PPA2 | c.767G>T (p.Gly256Val) c.680G>T (p.Gly227Val) c.*489G>T (n.*489G>T) c.269G>T (p.Gly90Val) c.461G>T (p.Gly154Val) n.459G>T c.*526G>T (n.*526G>T) n.776G>T c.548G>T (p.Gly183Val) n.584G>T c.143-28180G>T | |
| 4 | g.105399053C>G | CA357790367 | PPA2 | c.767G>C (p.Gly256Ala) c.680G>C (p.Gly227Ala) c.*489G>C (n.*489G>C) c.269G>C (p.Gly90Ala) c.461G>C (p.Gly154Ala) n.459G>C c.*526G>C (n.*526G>C) n.776G>C c.548G>C (p.Gly183Ala) n.584G>C c.143-28180G>C | |
| 4 | g.105399053C>T | CA357790365 | PPA2 | c.767G>A (p.Gly256Glu) c.680G>A (p.Gly227Glu) c.*489G>A (n.*489G>A) c.269G>A (p.Gly90Glu) c.461G>A (p.Gly154Glu) n.459G>A c.*526G>A (n.*526G>A) n.776G>A c.548G>A (p.Gly183Glu) n.584G>A c.143-28180G>A | |
| 4 | g.105399053_105399055del | CA2762949742 | PPA2 | c.765_767del (p.Asn255_Gly256delinsLys) c.678_680del (p.Asn226_Gly227delinsLys) c.*487_*489del (n.*487_*489del) c.267_269del (p.Asn89_Gly90delinsLys) c.459_461del (p.Asn153_Gly154delinsLys) n.457_459del c.*524_*526del (n.*524_*526del) n.774_776del c.546_548del (p.Asn182_Gly183delinsLys) n.582_584del c.143-28182_143-28180del | |
| 4 | g.105399054C>A | CA357790375 | PPA2 | c.766G>T (p.Gly256Ter) c.679G>T (p.Gly227Ter) c.*488G>T (n.*488G>T) c.268G>T (p.Gly90Ter) c.460G>T (p.Gly154Ter) n.458G>T c.*525G>T (n.*525G>T) n.775G>T c.547G>T (p.Gly183Ter) n.583G>T c.143-28181G>T | |
| 4 | g.105399054C>G | CA357790378 | PPA2 | c.766G>C (p.Gly256Arg) c.679G>C (p.Gly227Arg) c.*488G>C (n.*488G>C) c.268G>C (p.Gly90Arg) c.460G>C (p.Gly154Arg) n.458G>C c.*525G>C (n.*525G>C) n.775G>C c.547G>C (p.Gly183Arg) n.583G>C c.143-28181G>C | |
| 4 | g.105399054C>T | CA357790382 | PPA2 | c.766G>A (p.Gly256Arg) c.679G>A (p.Gly227Arg) c.*488G>A (n.*488G>A) c.268G>A (p.Gly90Arg) c.460G>A (p.Gly154Arg) n.458G>A c.*525G>A (n.*525G>A) n.775G>A c.547G>A (p.Gly183Arg) n.583G>A c.143-28181G>A | |
| 4 | g.105399055A>C | CA357790386 | PPA2 | c.765T>G (p.Asn255Lys) c.678T>G (p.Asn226Lys) c.*487T>G (n.*487T>G) c.267T>G (p.Asn89Lys) c.459T>G (p.Asn153Lys) n.457T>G c.*524T>G (n.*524T>G) n.774T>G c.546T>G (p.Asn182Lys) n.582T>G c.143-28182T>G | |
| 4 | g.105399055A>G | CA440539234 | PPA2 | c.765T>C (p.Asn255=) c.678T>C (p.Asn226=) c.*487T>C (n.*487T>C) c.267T>C (p.Asn89=) c.459T>C (p.Asn153=) n.457T>C c.*524T>C (n.*524T>C) n.774T>C c.546T>C (p.Asn182=) n.582T>C c.143-28182T>C | gnomAD v4 |
| 4 | g.105399055A>T | CA357790388 | PPA2 | c.765T>A (p.Asn255Lys) c.678T>A (p.Asn226Lys) c.*487T>A (n.*487T>A) c.267T>A (p.Asn89Lys) c.459T>A (p.Asn153Lys) n.457T>A c.*524T>A (n.*524T>A) n.774T>A c.546T>A (p.Asn182Lys) n.582T>A c.143-28182T>A | |
| 4 | g.105399056T>A | CA357790393 | PPA2 | c.764A>T (p.Asn255Ile) c.677A>T (p.Asn226Ile) c.*486A>T (n.*486A>T) c.266A>T (p.Asn89Ile) c.458A>T (p.Asn153Ile) n.456A>T c.*523A>T (n.*523A>T) n.773A>T c.545A>T (p.Asn182Ile) n.581A>T c.143-28183A>T | |
| 4 | g.105399056T>C | CA357790396 | PPA2 | c.764A>G (p.Asn255Ser) c.677A>G (p.Asn226Ser) c.*486A>G (n.*486A>G) c.266A>G (p.Asn89Ser) c.458A>G (p.Asn153Ser) n.456A>G c.*523A>G (n.*523A>G) n.773A>G c.545A>G (p.Asn182Ser) n.581A>G c.143-28183A>G | gnomAD v4 |
| 4 | g.105399056T>G | CA357790401 | PPA2 | c.764A>C (p.Asn255Thr) c.677A>C (p.Asn226Thr) c.*486A>C (n.*486A>C) c.266A>C (p.Asn89Thr) c.458A>C (p.Asn153Thr) n.456A>C c.*523A>C (n.*523A>C) n.773A>C c.545A>C (p.Asn182Thr) n.581A>C c.143-28183A>C | |
| 4 | g.105399057T>A | CA357790406 | PPA2 | c.763A>T (p.Asn255Tyr) c.676A>T (p.Asn226Tyr) c.*485A>T (n.*485A>T) c.265A>T (p.Asn89Tyr) c.457A>T (p.Asn153Tyr) n.455A>T c.*522A>T (n.*522A>T) n.772A>T c.544A>T (p.Asn182Tyr) n.580A>T c.143-28184A>T | |
| 4 | g.105399057T>C | CA357790409 | PPA2 | c.763A>G (p.Asn255Asp) c.676A>G (p.Asn226Asp) c.*485A>G (n.*485A>G) c.265A>G (p.Asn89Asp) c.457A>G (p.Asn153Asp) n.455A>G c.*522A>G (n.*522A>G) n.772A>G c.544A>G (p.Asn182Asp) n.580A>G c.143-28184A>G | |
| 4 | g.105399057T>G | CA3032439 | PPA2 | c.763A>C (p.Asn255His) c.676A>C (p.Asn226His) c.*485A>C (n.*485A>C) c.265A>C (p.Asn89His) c.457A>C (p.Asn153His) n.455A>C c.*522A>C (n.*522A>C) n.772A>C c.544A>C (p.Asn182His) n.580A>C c.143-28184A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399057T= | CA1482764799 | PPA2 | c.763A= (p.Asn255=) c.676A= (p.Asn226=) c.*485A= (n.*485A=) c.265A= (p.Asn89=) c.457A= (p.Asn153=) n.455A= c.*522A= (n.*522A=) n.772A= c.544A= (p.Asn182=) n.580A= c.143-28184A= | |
| 4 | g.105399058A>C | CA357790416 | PPA2 | c.762T>G (p.Phe254Leu) c.675T>G (p.Phe225Leu) c.*484T>G (n.*484T>G) c.264T>G (p.Phe88Leu) c.456T>G (p.Phe152Leu) n.454T>G c.*521T>G (n.*521T>G) n.771T>G c.543T>G (p.Phe181Leu) n.579T>G c.143-28185T>G | |
| 4 | g.105399058A>G | CA440539238 | PPA2 | c.762T>C (p.Phe254=) c.675T>C (p.Phe225=) c.*484T>C (n.*484T>C) c.264T>C (p.Phe88=) c.456T>C (p.Phe152=) n.454T>C c.*521T>C (n.*521T>C) n.771T>C c.543T>C (p.Phe181=) n.579T>C c.143-28185T>C | |
| 4 | g.105399058A>T | CA357790419 | PPA2 | c.762T>A (p.Phe254Leu) c.675T>A (p.Phe225Leu) c.*484T>A (n.*484T>A) c.264T>A (p.Phe88Leu) c.456T>A (p.Phe152Leu) n.454T>A c.*521T>A (n.*521T>A) n.771T>A c.543T>A (p.Phe181Leu) n.579T>A c.143-28185T>A | |
| 4 | g.105399059A>C | CA357790428 | PPA2 | c.761T>G (p.Phe254Cys) c.674T>G (p.Phe225Cys) c.*483T>G (n.*483T>G) c.263T>G (p.Phe88Cys) c.455T>G (p.Phe152Cys) n.453T>G c.*520T>G (n.*520T>G) n.770T>G c.542T>G (p.Phe181Cys) n.578T>G c.143-28186T>G | |
| 4 | g.105399059A>G | CA357790425 | PPA2 | c.761T>C (p.Phe254Ser) c.674T>C (p.Phe225Ser) c.*483T>C (n.*483T>C) c.263T>C (p.Phe88Ser) c.455T>C (p.Phe152Ser) n.453T>C c.*520T>C (n.*520T>C) n.770T>C c.542T>C (p.Phe181Ser) n.578T>C c.143-28186T>C | |
| 4 | g.105399059A>T | CA357790422 | PPA2 | c.761T>A (p.Phe254Tyr) c.674T>A (p.Phe225Tyr) c.*483T>A (n.*483T>A) c.263T>A (p.Phe88Tyr) c.455T>A (p.Phe152Tyr) n.453T>A c.*520T>A (n.*520T>A) n.770T>A c.542T>A (p.Phe181Tyr) n.578T>A c.143-28186T>A | |
| 4 | g.105399060A>C | CA357790439 | PPA2 | c.760T>G (p.Phe254Val) c.673T>G (p.Phe225Val) c.*482T>G (n.*482T>G) c.262T>G (p.Phe88Val) c.454T>G (p.Phe152Val) n.452T>G c.*519T>G (n.*519T>G) n.769T>G c.541T>G (p.Phe181Val) n.577T>G c.143-28187T>G | |
| 4 | g.105399060A>G | CA357790433 | PPA2 | c.760T>C (p.Phe254Leu) c.673T>C (p.Phe225Leu) c.*482T>C (n.*482T>C) c.262T>C (p.Phe88Leu) c.454T>C (p.Phe152Leu) n.452T>C c.*519T>C (n.*519T>C) n.769T>C c.541T>C (p.Phe181Leu) n.577T>C c.143-28187T>C | |
| 4 | g.105399060A>T | CA357790436 | PPA2 | c.760T>A (p.Phe254Ile) c.673T>A (p.Phe225Ile) c.*482T>A (n.*482T>A) c.262T>A (p.Phe88Ile) c.454T>A (p.Phe152Ile) n.452T>A c.*519T>A (n.*519T>A) n.769T>A c.541T>A (p.Phe181Ile) n.577T>A c.143-28187T>A | gnomAD v4 |
| 4 | g.105399061A>C | CA440539241 | PPA2 | c.759T>G (p.Ala253=) c.672T>G (p.Ala224=) c.*481T>G (n.*481T>G) c.261T>G (p.Ala87=) c.453T>G (p.Ala151=) n.451T>G c.*518T>G (n.*518T>G) n.768T>G c.540T>G (p.Ala180=) n.576T>G c.143-28188T>G | |
| 4 | g.105399061A>G | CA440539242 | PPA2 | c.759T>C (p.Ala253=) c.672T>C (p.Ala224=) c.*481T>C (n.*481T>C) c.261T>C (p.Ala87=) c.453T>C (p.Ala151=) n.451T>C c.*518T>C (n.*518T>C) n.768T>C c.540T>C (p.Ala180=) n.576T>C c.143-28188T>C | |
| 4 | g.105399061A>T | CA440539243 | PPA2 | c.759T>A (p.Ala253=) c.672T>A (p.Ala224=) c.*481T>A (n.*481T>A) c.261T>A (p.Ala87=) c.453T>A (p.Ala151=) n.451T>A c.*518T>A (n.*518T>A) n.768T>A c.540T>A (p.Ala180=) n.576T>A c.143-28188T>A | |
| 4 | g.105399062G>A | CA357790442 | PPA2 | c.758C>T (p.Ala253Val) c.671C>T (p.Ala224Val) c.*480C>T (n.*480C>T) c.260C>T (p.Ala87Val) c.452C>T (p.Ala151Val) n.450C>T c.*517C>T (n.*517C>T) n.767C>T c.539C>T (p.Ala180Val) n.575C>T c.143-28189C>T | gnomAD v4 |
| 4 | g.105399062G>C | CA357790445 | PPA2 | c.758C>G (p.Ala253Gly) c.671C>G (p.Ala224Gly) c.*480C>G (n.*480C>G) c.260C>G (p.Ala87Gly) c.452C>G (p.Ala151Gly) n.450C>G c.*517C>G (n.*517C>G) n.767C>G c.539C>G (p.Ala180Gly) n.575C>G c.143-28189C>G | |
| 4 | g.105399062G>T | CA357790449 | PPA2 | c.758C>A (p.Ala253Asp) c.671C>A (p.Ala224Asp) c.*480C>A (n.*480C>A) c.260C>A (p.Ala87Asp) c.452C>A (p.Ala151Asp) n.450C>A c.*517C>A (n.*517C>A) n.767C>A c.539C>A (p.Ala180Asp) n.575C>A c.143-28189C>A | |
| 4 | g.105399063C>A | CA357790453 | PPA2 | c.757G>T (p.Ala253Ser) c.670G>T (p.Ala224Ser) c.*479G>T (n.*479G>T) c.259G>T (p.Ala87Ser) c.451G>T (p.Ala151Ser) n.449G>T c.*516G>T (n.*516G>T) n.766G>T c.538G>T (p.Ala180Ser) n.574G>T c.143-28190G>T | gnomAD v4 |
| 4 | g.105399063C= | CA1482764805 | PPA2 | c.757G= (p.Ala253=) c.670G= (p.Ala224=) c.*479G= (n.*479G=) c.259G= (p.Ala87=) c.451G= (p.Ala151=) n.449G= c.*516G= (n.*516G=) n.766G= c.538G= (p.Ala180=) n.574G= c.143-28190G= | |
| 4 | g.105399063C>G | CA357790456 | PPA2 | c.757G>C (p.Ala253Pro) c.670G>C (p.Ala224Pro) c.*479G>C (n.*479G>C) c.259G>C (p.Ala87Pro) c.451G>C (p.Ala151Pro) n.449G>C c.*516G>C (n.*516G>C) n.766G>C c.538G>C (p.Ala180Pro) n.574G>C c.143-28190G>C | |
| 4 | g.105399063C>T | CA357790461 | PPA2 | c.757G>A (p.Ala253Thr) c.670G>A (p.Ala224Thr) c.*479G>A (n.*479G>A) c.259G>A (p.Ala87Thr) c.451G>A (p.Ala151Thr) n.449G>A c.*516G>A (n.*516G>A) n.766G>A c.538G>A (p.Ala180Thr) n.574G>A c.143-28190G>A | dbSNP |
| 4 | g.105399064A= | CA1482764810 | PPA2 | c.756T= (p.Phe252=) c.669T= (p.Phe223=) c.*478T= (n.*478T=) c.258T= (p.Phe86=) c.450T= (p.Phe150=) n.448T= c.*515T= (n.*515T=) n.765T= c.537T= (p.Phe179=) n.573T= c.143-28191T= | |
| 4 | g.105399064A>C | CA357790464 | PPA2 | c.756T>G (p.Phe252Leu) c.669T>G (p.Phe223Leu) c.*478T>G (n.*478T>G) c.258T>G (p.Phe86Leu) c.450T>G (p.Phe150Leu) n.448T>G c.*515T>G (n.*515T>G) n.765T>G c.537T>G (p.Phe179Leu) n.573T>G c.143-28191T>G | dbSNP |
| 4 | g.105399064A>G | CA440539246 | PPA2 | c.756T>C (p.Phe252=) c.669T>C (p.Phe223=) c.*478T>C (n.*478T>C) c.258T>C (p.Phe86=) c.450T>C (p.Phe150=) n.448T>C c.*515T>C (n.*515T>C) n.765T>C c.537T>C (p.Phe179=) n.573T>C c.143-28191T>C | |
| 4 | g.105399064A>T | CA357790467 | PPA2 | c.756T>A (p.Phe252Leu) c.669T>A (p.Phe223Leu) c.*478T>A (n.*478T>A) c.258T>A (p.Phe86Leu) c.450T>A (p.Phe150Leu) n.448T>A c.*515T>A (n.*515T>A) n.765T>A c.537T>A (p.Phe179Leu) n.573T>A c.143-28191T>A | |
| 4 | g.105399065A>C | CA357790470 | PPA2 | c.755T>G (p.Phe252Cys) c.668T>G (p.Phe223Cys) c.*477T>G (n.*477T>G) c.257T>G (p.Phe86Cys) c.449T>G (p.Phe150Cys) n.447T>G c.*514T>G (n.*514T>G) n.764T>G c.536T>G (p.Phe179Cys) n.572T>G c.143-28192T>G | |
| 4 | g.105399065A>G | CA357790472 | PPA2 | c.755T>C (p.Phe252Ser) c.668T>C (p.Phe223Ser) c.*477T>C (n.*477T>C) c.257T>C (p.Phe86Ser) c.449T>C (p.Phe150Ser) n.447T>C c.*514T>C (n.*514T>C) n.764T>C c.536T>C (p.Phe179Ser) n.572T>C c.143-28192T>C | gnomAD v4 |
| 4 | g.105399065A>T | CA357790475 | PPA2 | c.755T>A (p.Phe252Tyr) c.668T>A (p.Phe223Tyr) c.*477T>A (n.*477T>A) c.257T>A (p.Phe86Tyr) c.449T>A (p.Phe150Tyr) n.447T>A c.*514T>A (n.*514T>A) n.764T>A c.536T>A (p.Phe179Tyr) n.572T>A c.143-28192T>A | |
| 4 | g.105399066A>C | CA357790485 | PPA2 | c.754T>G (p.Phe252Val) c.667T>G (p.Phe223Val) c.*476T>G (n.*476T>G) c.256T>G (p.Phe86Val) c.448T>G (p.Phe150Val) n.446T>G c.*513T>G (n.*513T>G) n.763T>G c.535T>G (p.Phe179Val) n.571T>G c.143-28193T>G | |
| 4 | g.105399066A>G | CA357790480 | PPA2 | c.754T>C (p.Phe252Leu) c.667T>C (p.Phe223Leu) c.*476T>C (n.*476T>C) c.256T>C (p.Phe86Leu) c.448T>C (p.Phe150Leu) n.446T>C c.*513T>C (n.*513T>C) n.763T>C c.535T>C (p.Phe179Leu) n.571T>C c.143-28193T>C | |
| 4 | g.105399066A>T | CA357790483 | PPA2 | c.754T>A (p.Phe252Ile) c.667T>A (p.Phe223Ile) c.*476T>A (n.*476T>A) c.256T>A (p.Phe86Ile) c.448T>A (p.Phe150Ile) n.446T>A c.*513T>A (n.*513T>A) n.763T>A c.535T>A (p.Phe179Ile) n.571T>A c.143-28193T>A | |
| 4 | g.105399067C>A | CA357790488 | PPA2 | c.753G>T (p.Gln251His) c.666G>T (p.Gln222His) c.*475G>T (n.*475G>T) c.255G>T (p.Gln85His) c.447G>T (p.Gln149His) n.445G>T c.*512G>T (n.*512G>T) n.762G>T c.534G>T (p.Gln178His) n.570G>T c.143-28194G>T | |
| 4 | g.105399067C>G | CA357790491 | PPA2 | c.753G>C (p.Gln251His) c.666G>C (p.Gln222His) c.*475G>C (n.*475G>C) c.255G>C (p.Gln85His) c.447G>C (p.Gln149His) n.445G>C c.*512G>C (n.*512G>C) n.762G>C c.534G>C (p.Gln178His) n.570G>C c.143-28194G>C | ClinVar |
| 4 | g.105399067C>T | CA440539251 | PPA2 | c.753G>A (p.Gln251=) c.666G>A (p.Gln222=) c.*475G>A (n.*475G>A) c.255G>A (p.Gln85=) c.447G>A (p.Gln149=) n.445G>A c.*512G>A (n.*512G>A) n.762G>A c.534G>A (p.Gln178=) n.570G>A c.143-28194G>A | |
| 4 | g.105399068T>A | CA3032440 | PPA2 | c.752A>T (p.Gln251Leu) c.665A>T (p.Gln222Leu) c.*474A>T (n.*474A>T) c.254A>T (p.Gln85Leu) c.446A>T (p.Gln149Leu) n.444A>T c.*511A>T (n.*511A>T) n.761A>T c.533A>T (p.Gln178Leu) n.569A>T c.143-28195A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399068T>C | CA357790498 | PPA2 | c.752A>G (p.Gln251Arg) c.665A>G (p.Gln222Arg) c.*474A>G (n.*474A>G) c.254A>G (p.Gln85Arg) c.446A>G (p.Gln149Arg) n.444A>G c.*511A>G (n.*511A>G) n.761A>G c.533A>G (p.Gln178Arg) n.569A>G c.143-28195A>G | |
| 4 | g.105399068T>G | CA357790502 | PPA2 | c.752A>C (p.Gln251Pro) c.665A>C (p.Gln222Pro) c.*474A>C (n.*474A>C) c.254A>C (p.Gln85Pro) c.446A>C (p.Gln149Pro) n.444A>C c.*511A>C (n.*511A>C) n.761A>C c.533A>C (p.Gln178Pro) n.569A>C c.143-28195A>C | gnomAD v4 |
| 4 | g.105399068T= | CA1482764813 | PPA2 | c.752A= (p.Gln251=) c.665A= (p.Gln222=) c.*474A= (n.*474A=) c.254A= (p.Gln85=) c.446A= (p.Gln149=) n.444A= c.*511A= (n.*511A=) n.761A= c.533A= (p.Gln178=) n.569A= c.143-28195A= | |
| 4 | g.105399069G>A | CA3032441 | PPA2 | c.751C>T (p.Gln251Ter) c.664C>T (p.Gln222Ter) c.*473C>T (n.*473C>T) c.253C>T (p.Gln85Ter) c.445C>T (p.Gln149Ter) n.443C>T c.*510C>T (n.*510C>T) n.760C>T c.532C>T (p.Gln178Ter) n.568C>T c.143-28196C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399069G>C | CA357790506 | PPA2 | c.751C>G (p.Gln251Glu) c.664C>G (p.Gln222Glu) c.*473C>G (n.*473C>G) c.253C>G (p.Gln85Glu) c.445C>G (p.Gln149Glu) n.443C>G c.*510C>G (n.*510C>G) n.760C>G c.532C>G (p.Gln178Glu) n.568C>G c.143-28196C>G | gnomAD v4 |
| 4 | g.105399069G= | CA1482764817 | PPA2 | c.751C= (p.Gln251=) c.664C= (p.Gln222=) c.*473C= (n.*473C=) c.253C= (p.Gln85=) c.445C= (p.Gln149=) n.443C= c.*510C= (n.*510C=) n.760C= c.532C= (p.Gln178=) n.568C= c.143-28196C= | |
| 4 | g.105399069G>T | CA357790509 | PPA2 | c.751C>A (p.Gln251Lys) c.664C>A (p.Gln222Lys) c.*473C>A (n.*473C>A) c.253C>A (p.Gln85Lys) c.445C>A (p.Gln149Lys) n.443C>A c.*510C>A (n.*510C>A) n.760C>A c.532C>A (p.Gln178Lys) n.568C>A c.143-28196C>A | |
| 4 | g.105399070G>A | CA440539253 | PPA2 | c.750C>T (p.Asn250=) c.663C>T (p.Asn221=) c.*472C>T (n.*472C>T) c.252C>T (p.Asn84=) c.444C>T (p.Asn148=) n.442C>T c.*509C>T (n.*509C>T) n.759C>T c.531C>T (p.Asn177=) n.567C>T c.143-28197C>T | dbSNP gnomAD v2 |
| 4 | g.105399070G>C | CA357790514 | PPA2 | c.750C>G (p.Asn250Lys) c.663C>G (p.Asn221Lys) c.*472C>G (n.*472C>G) c.252C>G (p.Asn84Lys) c.444C>G (p.Asn148Lys) n.442C>G c.*509C>G (n.*509C>G) n.759C>G c.531C>G (p.Asn177Lys) n.567C>G c.143-28197C>G | |
| 4 | g.105399070G= | CA1482764820 | PPA2 | c.750C= (p.Asn250=) c.663C= (p.Asn221=) c.*472C= (n.*472C=) c.252C= (p.Asn84=) c.444C= (p.Asn148=) n.442C= c.*509C= (n.*509C=) n.759C= c.531C= (p.Asn177=) n.567C= c.143-28197C= | |
| 4 | g.105399070G>T | CA357790515 | PPA2 | c.750C>A (p.Asn250Lys) c.663C>A (p.Asn221Lys) c.*472C>A (n.*472C>A) c.252C>A (p.Asn84Lys) c.444C>A (p.Asn148Lys) n.442C>A c.*509C>A (n.*509C>A) n.759C>A c.531C>A (p.Asn177Lys) n.567C>A c.143-28197C>A | |
| 4 | g.105399071T>A | CA357790519 | PPA2 | c.749A>T (p.Asn250Ile) c.662A>T (p.Asn221Ile) c.*471A>T (n.*471A>T) c.251A>T (p.Asn84Ile) c.443A>T (p.Asn148Ile) n.441A>T c.*508A>T (n.*508A>T) n.758A>T c.530A>T (p.Asn177Ile) n.566A>T c.143-28198A>T | |
| 4 | g.105399071T>C | CA357790522 | PPA2 | c.749A>G (p.Asn250Ser) c.662A>G (p.Asn221Ser) c.*471A>G (n.*471A>G) c.251A>G (p.Asn84Ser) c.443A>G (p.Asn148Ser) n.441A>G c.*508A>G (n.*508A>G) n.758A>G c.530A>G (p.Asn177Ser) n.566A>G c.143-28198A>G | |
| 4 | g.105399071T>G | CA357790526 | PPA2 | c.749A>C (p.Asn250Thr) c.662A>C (p.Asn221Thr) c.*471A>C (n.*471A>C) c.251A>C (p.Asn84Thr) c.443A>C (p.Asn148Thr) n.441A>C c.*508A>C (n.*508A>C) n.758A>C c.530A>C (p.Asn177Thr) n.566A>C c.143-28198A>C | |
| 4 | g.105399074dup | CA2671614897 | PPA2 | c.749dup (p.Asn250LysfsTer6) c.662dup (p.Asn221LysfsTer6) c.*471dup (n.*471dup) c.251dup (p.Asn84LysfsTer6) c.443dup (p.Asn148LysfsTer6) n.441dup c.*508dup (n.*508dup) n.758dup c.530dup (p.Asn177LysfsTer6) n.566dup c.143-28198dup | gnomAD v4 |
| 4 | g.105399072T>A | CA357790533 | PPA2 | c.748A>T (p.Asn250Tyr) c.661A>T (p.Asn221Tyr) c.*470A>T (n.*470A>T) c.250A>T (p.Asn84Tyr) c.442A>T (p.Asn148Tyr) n.440A>T c.*507A>T (n.*507A>T) n.757A>T c.529A>T (p.Asn177Tyr) n.565A>T c.143-28199A>T | |
| 4 | g.105399072T>C | CA357790536 | PPA2 | c.748A>G (p.Asn250Asp) c.661A>G (p.Asn221Asp) c.*470A>G (n.*470A>G) c.250A>G (p.Asn84Asp) c.442A>G (p.Asn148Asp) n.440A>G c.*507A>G (n.*507A>G) n.757A>G c.529A>G (p.Asn177Asp) n.565A>G c.143-28199A>G | |
| 4 | g.105399072T>G | CA357790530 | PPA2 | c.748A>C (p.Asn250His) c.661A>C (p.Asn221His) c.*470A>C (n.*470A>C) c.250A>C (p.Asn84His) c.442A>C (p.Asn148His) n.440A>C c.*507A>C (n.*507A>C) n.757A>C c.529A>C (p.Asn177His) n.565A>C c.143-28199A>C | |
| 4 | g.105399073T>A | CA357790539 | PPA2 | c.747A>T (p.Glu249Asp) c.660A>T (p.Glu220Asp) c.*469A>T (n.*469A>T) c.249A>T (p.Glu83Asp) c.441A>T (p.Glu147Asp) n.439A>T c.*506A>T (n.*506A>T) n.756A>T c.528A>T (p.Glu176Asp) n.564A>T c.143-28200A>T | |
| 4 | g.105399073T>C | CA440539255 | PPA2 | c.747A>G (p.Glu249=) c.660A>G (p.Glu220=) c.*469A>G (n.*469A>G) c.249A>G (p.Glu83=) c.441A>G (p.Glu147=) n.439A>G c.*506A>G (n.*506A>G) n.756A>G c.528A>G (p.Glu176=) n.564A>G c.143-28200A>G | |
| 4 | g.105399073T>G | CA357790543 | PPA2 | c.747A>C (p.Glu249Asp) c.660A>C (p.Glu220Asp) c.*469A>C (n.*469A>C) c.249A>C (p.Glu83Asp) c.441A>C (p.Glu147Asp) n.439A>C c.*506A>C (n.*506A>C) n.756A>C c.528A>C (p.Glu176Asp) n.564A>C c.143-28200A>C | |
| 4 | g.105399074T>A | CA357790546 | PPA2 | c.746A>T (p.Glu249Val) c.659A>T (p.Glu220Val) c.*468A>T (n.*468A>T) c.248A>T (p.Glu83Val) c.440A>T (p.Glu147Val) n.438A>T c.*505A>T (n.*505A>T) n.755A>T c.527A>T (p.Glu176Val) n.563A>T c.143-28201A>T | |
| 4 | g.105399074T>C | CA357790549 | PPA2 | c.746A>G (p.Glu249Gly) c.659A>G (p.Glu220Gly) c.*468A>G (n.*468A>G) c.248A>G (p.Glu83Gly) c.440A>G (p.Glu147Gly) n.438A>G c.*505A>G (n.*505A>G) n.755A>G c.527A>G (p.Glu176Gly) n.563A>G c.143-28201A>G | |
| 4 | g.105399074T>G | CA357790552 | PPA2 | c.746A>C (p.Glu249Ala) c.659A>C (p.Glu220Ala) c.*468A>C (n.*468A>C) c.248A>C (p.Glu83Ala) c.440A>C (p.Glu147Ala) n.438A>C c.*505A>C (n.*505A>C) n.755A>C c.527A>C (p.Glu176Ala) n.563A>C c.143-28201A>C | |
| 4 | g.105399075C>A | CA357790557 | PPA2 | c.745G>T (p.Glu249Ter) c.658G>T (p.Glu220Ter) c.*467G>T (n.*467G>T) c.247G>T (p.Glu83Ter) c.439G>T (p.Glu147Ter) n.437G>T c.*504G>T (n.*504G>T) n.754G>T c.526G>T (p.Glu176Ter) n.562G>T c.143-28202G>T | |
| 4 | g.105399075C>G | CA357790558 | PPA2 | c.745G>C (p.Glu249Gln) c.658G>C (p.Glu220Gln) c.*467G>C (n.*467G>C) c.247G>C (p.Glu83Gln) c.439G>C (p.Glu147Gln) n.437G>C c.*504G>C (n.*504G>C) n.754G>C c.526G>C (p.Glu176Gln) n.562G>C c.143-28202G>C | |
| 4 | g.105399075C>T | CA357790561 | PPA2 | c.745G>A (p.Glu249Lys) c.658G>A (p.Glu220Lys) c.*467G>A (n.*467G>A) c.247G>A (p.Glu83Lys) c.439G>A (p.Glu147Lys) n.437G>A c.*504G>A (n.*504G>A) n.754G>A c.526G>A (p.Glu176Lys) n.562G>A c.143-28202G>A | gnomAD v4 |
| 4 | g.105399076T>A | CA440539259 | PPA2 | c.744A>T (p.Pro248=) c.657A>T (p.Pro219=) c.*466A>T (n.*466A>T) c.246A>T (p.Pro82=) c.438A>T (p.Pro146=) n.436A>T c.*503A>T (n.*503A>T) n.753A>T c.525A>T (p.Pro175=) n.561A>T c.143-28203A>T | |
| 4 | g.105399076T>C | CA3032443 | PPA2 | c.744A>G (p.Pro248=) c.657A>G (p.Pro219=) c.*466A>G (n.*466A>G) c.246A>G (p.Pro82=) c.438A>G (p.Pro146=) n.436A>G c.*503A>G (n.*503A>G) n.753A>G c.525A>G (p.Pro175=) n.561A>G c.143-28203A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399076T>G | CA440539260 | PPA2 | c.744A>C (p.Pro248=) c.657A>C (p.Pro219=) c.*466A>C (n.*466A>C) c.246A>C (p.Pro82=) c.438A>C (p.Pro146=) n.436A>C c.*503A>C (n.*503A>C) n.753A>C c.525A>C (p.Pro175=) n.561A>C c.143-28203A>C | |
| 4 | g.105399076T= | CA1482764823 | PPA2 | c.744A= (p.Pro248=) c.657A= (p.Pro219=) c.*466A= (n.*466A=) c.246A= (p.Pro82=) c.438A= (p.Pro146=) n.436A= c.*503A= (n.*503A=) n.753A= c.525A= (p.Pro175=) n.561A= c.143-28203A= | |
| 4 | g.105399077G>A | CA357790568 | PPA2 | c.743C>T (p.Pro248Leu) c.656C>T (p.Pro219Leu) c.*465C>T (n.*465C>T) c.245C>T (p.Pro82Leu) c.437C>T (p.Pro146Leu) n.435C>T c.*502C>T (n.*502C>T) n.752C>T c.524C>T (p.Pro175Leu) n.560C>T c.143-28204C>T | |
| 4 | g.105399077G>C | CA357790570 | PPA2 | c.743C>G (p.Pro248Arg) c.656C>G (p.Pro219Arg) c.*465C>G (n.*465C>G) c.245C>G (p.Pro82Arg) c.437C>G (p.Pro146Arg) n.435C>G c.*502C>G (n.*502C>G) n.752C>G c.524C>G (p.Pro175Arg) n.560C>G c.143-28204C>G | |
| 4 | g.105399077G>T | CA357790572 | PPA2 | c.743C>A (p.Pro248Gln) c.656C>A (p.Pro219Gln) c.*465C>A (n.*465C>A) c.245C>A (p.Pro82Gln) c.437C>A (p.Pro146Gln) n.435C>A c.*502C>A (n.*502C>A) n.752C>A c.524C>A (p.Pro175Gln) n.560C>A c.143-28204C>A | |
| 4 | g.105399078dup | CA3032442 | PPA2 | c.743dup (p.Glu249ArgfsTer7) c.656dup (p.Glu220ArgfsTer7) c.*465dup (n.*465dup) c.245dup (p.Glu83ArgfsTer7) c.437dup (p.Glu147ArgfsTer7) n.435dup c.*502dup (n.*502dup) n.752dup c.524dup (p.Glu176ArgfsTer7) n.560dup c.143-28204dup | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399078del | CA2580071302 | PPA2 | c.743del (p.Pro248GlnfsTer?) c.656del (p.Pro219GlnfsTer?) c.*465del (n.*465del) c.245del (p.Pro82GlnfsTer?) c.437del (p.Pro146GlnfsTer?) n.435del c.*502del (n.*502del) n.752del c.524del (p.Pro175GlnfsTer?) n.560del c.143-28204del | ClinVar |
| 4 | g.105399078G>A | CA357790575 | PPA2 | c.742C>T (p.Pro248Ser) c.655C>T (p.Pro219Ser) c.*464C>T (n.*464C>T) c.244C>T (p.Pro82Ser) c.436C>T (p.Pro146Ser) n.434C>T c.*501C>T (n.*501C>T) n.751C>T c.523C>T (p.Pro175Ser) n.559C>T c.143-28205C>T | |
| 4 | g.105399078G>C | CA357790577 | PPA2 | c.742C>G (p.Pro248Ala) c.655C>G (p.Pro219Ala) c.*464C>G (n.*464C>G) c.244C>G (p.Pro82Ala) c.436C>G (p.Pro146Ala) n.434C>G c.*501C>G (n.*501C>G) n.751C>G c.523C>G (p.Pro175Ala) n.559C>G c.143-28205C>G | |
| 4 | g.105399078G>T | CA357790579 | PPA2 | c.742C>A (p.Pro248Thr) c.655C>A (p.Pro219Thr) c.*464C>A (n.*464C>A) c.244C>A (p.Pro82Thr) c.436C>A (p.Pro146Thr) n.434C>A c.*501C>A (n.*501C>A) n.751C>A c.523C>A (p.Pro175Thr) n.559C>A c.143-28205C>A | |
| 4 | g.105399079T>A | CA357790582 | PPA2 | c.741A>T (p.Lys247Asn) c.654A>T (p.Lys218Asn) c.*463A>T (n.*463A>T) c.243A>T (p.Lys81Asn) c.435A>T (p.Lys145Asn) n.433A>T c.677A>T c.*500A>T (n.*500A>T) n.750A>T c.522A>T (p.Lys174Asn) n.558A>T c.143-28206A>T | ClinVar |
| 4 | g.105399079T>C | CA440539265 | PPA2 | c.741A>G (p.Lys247=) c.654A>G (p.Lys218=) c.*463A>G (n.*463A>G) c.243A>G (p.Lys81=) c.435A>G (p.Lys145=) n.433A>G c.677A>G c.*500A>G (n.*500A>G) n.750A>G c.522A>G (p.Lys174=) n.558A>G c.143-28206A>G | |
| 4 | g.105399079T>G | CA357790584 | PPA2 | c.741A>C (p.Lys247Asn) c.654A>C (p.Lys218Asn) c.*463A>C (n.*463A>C) c.243A>C (p.Lys81Asn) c.435A>C (p.Lys145Asn) n.433A>C c.677A>C c.*500A>C (n.*500A>C) n.750A>C c.522A>C (p.Lys174Asn) n.558A>C c.143-28206A>C | |
| 4 | g.105399080T>A | CA357790587 | PPA2 | c.740A>T (p.Lys247Ile) c.653A>T (p.Lys218Ile) c.*462A>T (n.*462A>T) c.242A>T (p.Lys81Ile) c.434A>T (p.Lys145Ile) n.432A>T c.676A>T c.*499A>T (n.*499A>T) n.749A>T c.521A>T (p.Lys174Ile) n.557A>T c.143-28207A>T | |
| 4 | g.105399080T>C | CA357790589 | PPA2 | c.740A>G (p.Lys247Arg) c.653A>G (p.Lys218Arg) c.*462A>G (n.*462A>G) c.242A>G (p.Lys81Arg) c.434A>G (p.Lys145Arg) n.432A>G c.676A>G c.*499A>G (n.*499A>G) n.749A>G c.521A>G (p.Lys174Arg) n.557A>G c.143-28207A>G | |
| 4 | g.105399080T>G | CA357790590 | PPA2 | c.740A>C (p.Lys247Thr) c.653A>C (p.Lys218Thr) c.*462A>C (n.*462A>C) c.242A>C (p.Lys81Thr) c.434A>C (p.Lys145Thr) n.432A>C c.676A>C c.*499A>C (n.*499A>C) n.749A>C c.521A>C (p.Lys174Thr) n.557A>C c.143-28207A>C | |
| 4 | g.105399081T>A | CA357790593 | PPA2 | c.739A>T (p.Lys247Ter) c.652A>T (p.Lys218Ter) c.*461A>T (n.*461A>T) c.241A>T (p.Lys81Ter) c.433A>T (p.Lys145Ter) n.431A>T c.675A>T c.*498A>T (n.*498A>T) n.748A>T c.520A>T (p.Lys174Ter) n.556A>T c.143-28208A>T | |
| 4 | g.105399081T>C | CA357790595 | PPA2 | c.739A>G (p.Lys247Glu) c.652A>G (p.Lys218Glu) c.*461A>G (n.*461A>G) c.241A>G (p.Lys81Glu) c.433A>G (p.Lys145Glu) n.431A>G c.675A>G c.*498A>G (n.*498A>G) n.748A>G c.520A>G (p.Lys174Glu) n.556A>G c.143-28208A>G | |
| 4 | g.105399081T>G | CA357790597 | PPA2 | c.739A>C (p.Lys247Gln) c.652A>C (p.Lys218Gln) c.*461A>C (n.*461A>C) c.241A>C (p.Lys81Gln) c.433A>C (p.Lys145Gln) n.431A>C c.675A>C c.*498A>C (n.*498A>C) n.748A>C c.520A>C (p.Lys174Gln) n.556A>C c.143-28208A>C | |
| 4 | g.105399082T>A | CA440539271 | PPA2 | c.738A>T (p.Gly246=) c.651A>T (p.Gly217=) c.*460A>T (n.*460A>T) c.240A>T (p.Gly80=) c.432A>T (p.Gly144=) n.430A>T c.674A>T c.*497A>T (n.*497A>T) n.747A>T c.519A>T (p.Gly173=) n.555A>T c.143-28209A>T | |
| 4 | g.105399082T>C | CA440539270 | PPA2 | c.738A>G (p.Gly246=) c.651A>G (p.Gly217=) c.*460A>G (n.*460A>G) c.240A>G (p.Gly80=) c.432A>G (p.Gly144=) n.430A>G c.674A>G c.*497A>G (n.*497A>G) n.747A>G c.519A>G (p.Gly173=) n.555A>G c.143-28209A>G | |
| 4 | g.105399082T>G | CA440539268 | PPA2 | c.738A>C (p.Gly246=) c.651A>C (p.Gly217=) c.*460A>C (n.*460A>C) c.240A>C (p.Gly80=) c.432A>C (p.Gly144=) n.430A>C c.674A>C c.*497A>C (n.*497A>C) n.747A>C c.519A>C (p.Gly173=) n.555A>C c.143-28209A>C | |
| 4 | g.105399083C>A | CA357790600 | PPA2 | c.737G>T (p.Gly246Val) c.650G>T (p.Gly217Val) c.*459G>T (n.*459G>T) c.239G>T (p.Gly80Val) c.431G>T (p.Gly144Val) n.429G>T c.673G>T c.*496G>T (n.*496G>T) n.746G>T c.518G>T (p.Gly173Val) n.554G>T c.143-28210G>T | |
| 4 | g.105399083C>G | CA357790602 | PPA2 | c.737G>C (p.Gly246Ala) c.650G>C (p.Gly217Ala) c.*459G>C (n.*459G>C) c.239G>C (p.Gly80Ala) c.431G>C (p.Gly144Ala) n.429G>C c.673G>C c.*496G>C (n.*496G>C) n.746G>C c.518G>C (p.Gly173Ala) n.554G>C c.143-28210G>C | |
| 4 | g.105399083C>T | CA357790605 | PPA2 | c.737G>A (p.Gly246Glu) c.650G>A (p.Gly217Glu) c.*459G>A (n.*459G>A) c.239G>A (p.Gly80Glu) c.431G>A (p.Gly144Glu) n.429G>A c.673G>A c.*496G>A (n.*496G>A) n.746G>A c.518G>A (p.Gly173Glu) n.554G>A c.143-28210G>A | |
| 4 | g.105399084C>A | CA357790608 | PPA2 | c.736G>T (p.Gly246Ter) c.649G>T (p.Gly217Ter) c.*458G>T (n.*458G>T) c.238G>T (p.Gly80Ter) c.430G>T (p.Gly144Ter) n.428G>T c.672G>T c.*495G>T (n.*495G>T) n.745G>T c.517G>T (p.Gly173Ter) n.553G>T c.143-28211G>T | COSMIC COSMIC |
| 4 | g.105399084C>G | CA357790610 | PPA2 | c.736G>C (p.Gly246Arg) c.649G>C (p.Gly217Arg) c.*458G>C (n.*458G>C) c.238G>C (p.Gly80Arg) c.430G>C (p.Gly144Arg) n.428G>C c.672G>C c.*495G>C (n.*495G>C) n.745G>C c.517G>C (p.Gly173Arg) n.553G>C c.143-28211G>C | |
| 4 | g.105399084C>T | CA357790612 | PPA2 | c.736G>A (p.Gly246Arg) c.649G>A (p.Gly217Arg) c.*458G>A (n.*458G>A) c.238G>A (p.Gly80Arg) c.430G>A (p.Gly144Arg) n.428G>A c.672G>A c.*495G>A (n.*495G>A) n.745G>A c.517G>A (p.Gly173Arg) n.553G>A c.143-28211G>A | gnomAD v4 |
| 4 | g.105399085A= | CA1482764826 | PPA2 | c.735T= (p.Asp245=) c.648T= (p.Asp216=) c.*457T= (n.*457T=) c.237T= (p.Asp79=) c.429T= (p.Asp143=) n.427T= c.671T= c.*494T= (n.*494T=) n.744T= c.516T= (p.Asp172=) n.552T= c.143-28212T= | |
| 4 | g.105399085A>C | CA357790615 | PPA2 | c.735T>G (p.Asp245Glu) c.648T>G (p.Asp216Glu) c.*457T>G (n.*457T>G) c.237T>G (p.Asp79Glu) c.429T>G (p.Asp143Glu) n.427T>G c.671T>G c.*494T>G (n.*494T>G) n.744T>G c.516T>G (p.Asp172Glu) n.552T>G c.143-28212T>G | |
| 4 | g.105399085A>G | CA440539273 | PPA2 | c.735T>C (p.Asp245=) c.648T>C (p.Asp216=) c.*457T>C (n.*457T>C) c.237T>C (p.Asp79=) c.429T>C (p.Asp143=) n.427T>C c.671T>C c.*494T>C (n.*494T>C) n.744T>C c.516T>C (p.Asp172=) n.552T>C c.143-28212T>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.105399085A>T | CA357790616 | PPA2 | c.735T>A (p.Asp245Glu) c.648T>A (p.Asp216Glu) c.*457T>A (n.*457T>A) c.237T>A (p.Asp79Glu) c.429T>A (p.Asp143Glu) n.427T>A c.671T>A c.*494T>A (n.*494T>A) n.744T>A c.516T>A (p.Asp172Glu) n.552T>A c.143-28212T>A | dbSNP |
| 4 | g.105399086T>A | CA357790619 | PPA2 | c.734A>T (p.Asp245Val) c.647A>T (p.Asp216Val) c.*456A>T (n.*456A>T) c.236A>T (p.Asp79Val) c.428A>T (p.Asp143Val) n.426A>T c.670A>T c.*493A>T (n.*493A>T) n.743A>T c.515A>T (p.Asp172Val) n.551A>T c.143-28213A>T | |
| 4 | g.105399086T>C | CA357790621 | PPA2 | c.734A>G (p.Asp245Gly) c.647A>G (p.Asp216Gly) c.*456A>G (n.*456A>G) c.236A>G (p.Asp79Gly) c.428A>G (p.Asp143Gly) n.426A>G c.670A>G c.*493A>G (n.*493A>G) n.743A>G c.515A>G (p.Asp172Gly) n.551A>G c.143-28213A>G | gnomAD v4 |
| 4 | g.105399086T>G | CA357790623 | PPA2 | c.734A>C (p.Asp245Ala) c.647A>C (p.Asp216Ala) c.*456A>C (n.*456A>C) c.236A>C (p.Asp79Ala) c.428A>C (p.Asp143Ala) n.426A>C c.670A>C c.*493A>C (n.*493A>C) n.743A>C c.515A>C (p.Asp172Ala) n.551A>C c.143-28213A>C | |
| 4 | g.105399087C>A | CA357790626 | PPA2 | c.733G>T (p.Asp245Tyr) c.646G>T (p.Asp216Tyr) c.*455G>T (n.*455G>T) c.235G>T (p.Asp79Tyr) c.427G>T (p.Asp143Tyr) n.425G>T c.669G>T c.*492G>T (n.*492G>T) n.742G>T c.514G>T (p.Asp172Tyr) n.550G>T c.143-28214G>T | |
| 4 | g.105399087C= | CA1482764831 | PPA2 | c.733G= (p.Asp245=) c.646G= (p.Asp216=) c.*455G= (n.*455G=) c.235G= (p.Asp79=) c.427G= (p.Asp143=) n.425G= c.669G= c.*492G= (n.*492G=) n.742G= c.514G= (p.Asp172=) n.550G= c.143-28214G= | |
| 4 | g.105399087C>G | CA357790628 | PPA2 | c.733G>C (p.Asp245His) c.646G>C (p.Asp216His) c.*455G>C (n.*455G>C) c.235G>C (p.Asp79His) c.427G>C (p.Asp143His) n.425G>C c.669G>C c.*492G>C (n.*492G>C) n.742G>C c.514G>C (p.Asp172His) n.550G>C c.143-28214G>C | |
| 4 | g.105399087C>T | CA3032444 | PPA2 | c.733G>A (p.Asp245Asn) c.646G>A (p.Asp216Asn) c.*455G>A (n.*455G>A) c.235G>A (p.Asp79Asn) c.427G>A (p.Asp143Asn) n.425G>A c.669G>A c.*492G>A (n.*492G>A) n.742G>A c.514G>A (p.Asp172Asn) n.550G>A c.143-28214G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399088T>A | CA440539278 | PPA2 | c.732A>T (p.Pro244=) c.645A>T (p.Pro215=) c.*454A>T (n.*454A>T) c.234A>T (p.Pro78=) c.426A>T (p.Pro142=) n.424A>T c.668A>T c.*491A>T (n.*491A>T) n.741A>T c.513A>T (p.Pro171=) n.549A>T c.143-28215A>T | |
| 4 | g.105399088T>C | CA440539279 | PPA2 | c.732A>G (p.Pro244=) c.645A>G (p.Pro215=) c.*454A>G (n.*454A>G) c.234A>G (p.Pro78=) c.426A>G (p.Pro142=) n.424A>G c.668A>G c.*491A>G (n.*491A>G) n.741A>G c.513A>G (p.Pro171=) n.549A>G c.143-28215A>G | |
| 4 | g.105399088T>G | CA440539280 | PPA2 | c.732A>C (p.Pro244=) c.645A>C (p.Pro215=) c.*454A>C (n.*454A>C) c.234A>C (p.Pro78=) c.426A>C (p.Pro142=) n.424A>C c.668A>C c.*491A>C (n.*491A>C) n.741A>C c.513A>C (p.Pro171=) n.549A>C c.143-28215A>C | |
| 4 | g.105399088T= | CA1482764833 | PPA2 | c.732A= (p.Pro244=) c.645A= (p.Pro215=) c.*454A= (n.*454A=) c.234A= (p.Pro78=) c.426A= (p.Pro142=) n.424A= c.668A= c.*491A= (n.*491A=) n.741A= c.513A= (p.Pro171=) n.549A= c.143-28215A= | |
| 4 | g.105399089G>A | CA357790632 | PPA2 | c.731C>T (p.Pro244Leu) c.644C>T (p.Pro215Leu) c.*453C>T (n.*453C>T) c.233C>T (p.Pro78Leu) c.425C>T (p.Pro142Leu) n.423C>T c.667C>T c.*490C>T (n.*490C>T) n.740C>T c.512C>T (p.Pro171Leu) n.548C>T c.143-28216C>T | |
| 4 | g.105399089G>C | CA3032445 | PPA2 | c.731C>G (p.Pro244Arg) c.644C>G (p.Pro215Arg) c.*453C>G (n.*453C>G) c.233C>G (p.Pro78Arg) c.425C>G (p.Pro142Arg) n.423C>G c.667C>G c.*490C>G (n.*490C>G) n.740C>G c.512C>G (p.Pro171Arg) n.548C>G c.143-28216C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399089G= | CA1482764835 | PPA2 | c.731C= (p.Pro244=) c.644C= (p.Pro215=) c.*453C= (n.*453C=) c.233C= (p.Pro78=) c.425C= (p.Pro142=) n.423C= c.667C= c.*490C= (n.*490C=) n.740C= c.512C= (p.Pro171=) n.548C= c.143-28216C= | |
| 4 | g.105399089G>T | CA357790635 | PPA2 | c.731C>A (p.Pro244Gln) c.644C>A (p.Pro215Gln) c.*453C>A (n.*453C>A) c.233C>A (p.Pro78Gln) c.425C>A (p.Pro142Gln) n.423C>A c.667C>A c.*490C>A (n.*490C>A) n.740C>A c.512C>A (p.Pro171Gln) n.548C>A c.143-28216C>A | |
| 4 | g.105399090dup | CA553602437 | PPA2 | c.731dup (p.Asp245ArgfsTer11) c.644dup (p.Asp216ArgfsTer11) c.*453dup (n.*453dup) c.233dup (p.Asp79ArgfsTer11) c.425dup (p.Asp143ArgfsTer11) n.423dup c.667dup c.*490dup (n.*490dup) n.740dup c.512dup (p.Asp172ArgfsTer11) n.548dup c.143-28216dup | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.105399090G>A | CA357790639 | PPA2 | c.730C>T (p.Pro244Ser) c.643C>T (p.Pro215Ser) c.*452C>T (n.*452C>T) c.232C>T (p.Pro78Ser) c.424C>T (p.Pro142Ser) n.422C>T c.666C>T c.*489C>T (n.*489C>T) n.739C>T c.511C>T (p.Pro171Ser) n.547C>T c.143-28217C>T | gnomAD v4 |
| 4 | g.105399090G>C | CA357790640 | PPA2 | c.730C>G (p.Pro244Ala) c.643C>G (p.Pro215Ala) c.*452C>G (n.*452C>G) c.232C>G (p.Pro78Ala) c.424C>G (p.Pro142Ala) n.422C>G c.666C>G c.*489C>G (n.*489C>G) n.739C>G c.511C>G (p.Pro171Ala) n.547C>G c.143-28217C>G | |
| 4 | g.105399090G>T | CA357790642 | PPA2 | c.730C>A (p.Pro244Thr) c.643C>A (p.Pro215Thr) c.*452C>A (n.*452C>A) c.232C>A (p.Pro78Thr) c.424C>A (p.Pro142Thr) n.422C>A c.666C>A c.*489C>A (n.*489C>A) n.739C>A c.511C>A (p.Pro171Thr) n.547C>A c.143-28217C>A | |
| 4 | g.105399091T>A | CA440539282 | PPA2 | c.729A>T (p.Val243=) c.642A>T (p.Val214=) c.*451A>T (n.*451A>T) c.231A>T (p.Val77=) c.423A>T (p.Val141=) n.421A>T c.665A>T c.*488A>T (n.*488A>T) n.738A>T c.510A>T (p.Val170=) n.546A>T c.143-28218A>T | gnomAD v4 |
| 4 | g.105399091T>C | CA440539284 | PPA2 | c.729A>G (p.Val243=) c.642A>G (p.Val214=) c.*451A>G (n.*451A>G) c.231A>G (p.Val77=) c.423A>G (p.Val141=) n.421A>G c.665A>G c.*488A>G (n.*488A>G) n.738A>G c.510A>G (p.Val170=) n.546A>G c.143-28218A>G | dbSNP |
| 4 | g.105399091T>G | CA440539285 | PPA2 | c.729A>C (p.Val243=) c.642A>C (p.Val214=) c.*451A>C (n.*451A>C) c.231A>C (p.Val77=) c.423A>C (p.Val141=) n.421A>C c.665A>C c.*488A>C (n.*488A>C) n.738A>C c.510A>C (p.Val170=) n.546A>C c.143-28218A>C | |
| 4 | g.105399091T= | CA1482764837 | PPA2 | c.729A= (p.Val243=) c.642A= (p.Val214=) c.*451A= (n.*451A=) c.231A= (p.Val77=) c.423A= (p.Val141=) n.421A= c.665A= c.*488A= (n.*488A=) n.738A= c.510A= (p.Val170=) n.546A= c.143-28218A= | |
| 4 | g.105399092A= | CA1482764841 | PPA2 | c.728T= (p.Val243=) c.641T= (p.Val214=) c.*450T= (n.*450T=) c.230T= (p.Val77=) c.422T= (p.Val141=) n.420T= c.664T= c.*487T= (n.*487T=) n.737T= c.509T= (p.Val170=) n.545T= c.143-28219T= | |
| 4 | g.105399092A>C | CA357790646 | PPA2 | c.728T>G (p.Val243Gly) c.641T>G (p.Val214Gly) c.*450T>G (n.*450T>G) c.230T>G (p.Val77Gly) c.422T>G (p.Val141Gly) n.420T>G c.664T>G c.*487T>G (n.*487T>G) n.737T>G c.509T>G (p.Val170Gly) n.545T>G c.143-28219T>G | |
| 4 | g.105399092A>G | CA357790648 | PPA2 | c.728T>C (p.Val243Ala) c.641T>C (p.Val214Ala) c.*450T>C (n.*450T>C) c.230T>C (p.Val77Ala) c.422T>C (p.Val141Ala) n.420T>C c.664T>C c.*487T>C (n.*487T>C) n.737T>C c.509T>C (p.Val170Ala) n.545T>C c.143-28219T>C | dbSNP |
| 4 | g.105399092A>T | CA357790645 | PPA2 | c.728T>A (p.Val243Glu) c.641T>A (p.Val214Glu) c.*450T>A (n.*450T>A) c.230T>A (p.Val77Glu) c.422T>A (p.Val141Glu) n.420T>A c.664T>A c.*487T>A (n.*487T>A) n.737T>A c.509T>A (p.Val170Glu) n.545T>A c.143-28219T>A | |
| 4 | g.105399093C>A | CA3032446 | PPA2 | c.727G>T (p.Val243Leu) c.640G>T (p.Val214Leu) c.*449G>T (n.*449G>T) c.229G>T (p.Val77Leu) c.421G>T (p.Val141Leu) n.419G>T c.663G>T c.*486G>T (n.*486G>T) n.736G>T c.508G>T (p.Val170Leu) n.544G>T c.143-28220G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399093C= | CA1482764845 | PPA2 | c.727G= (p.Val243=) c.640G= (p.Val214=) c.*449G= (n.*449G=) c.229G= (p.Val77=) c.421G= (p.Val141=) n.419G= c.663G= c.*486G= (n.*486G=) n.736G= c.508G= (p.Val170=) n.544G= c.143-28220G= | |
| 4 | g.105399093C>G | CA357790652 | PPA2 | c.727G>C (p.Val243Leu) c.640G>C (p.Val214Leu) c.*449G>C (n.*449G>C) c.229G>C (p.Val77Leu) c.421G>C (p.Val141Leu) n.419G>C c.663G>C c.*486G>C (n.*486G>C) n.736G>C c.508G>C (p.Val170Leu) n.544G>C c.143-28220G>C | |
| 4 | g.105399093C>T | CA357790654 | PPA2 | c.727G>A (p.Val243Ile) c.640G>A (p.Val214Ile) c.*449G>A (n.*449G>A) c.229G>A (p.Val77Ile) c.421G>A (p.Val141Ile) n.419G>A c.663G>A c.*486G>A (n.*486G>A) n.736G>A c.508G>A (p.Val170Ile) n.544G>A c.143-28220G>A | dbSNP |
| 4 | g.105399094C>A | CA357790656 | PPA2 | c.726G>T (p.Lys242Asn) c.639G>T (p.Lys213Asn) c.*448G>T (n.*448G>T) c.228G>T (p.Lys76Asn) c.420G>T (p.Lys140Asn) n.418G>T c.662G>T c.*485G>T (n.*485G>T) n.735G>T c.507G>T (p.Lys169Asn) n.543G>T c.143-28221G>T | |
| 4 | g.105399094C= | CA1482764850 | PPA2 | c.726G= (p.Lys242=) c.639G= (p.Lys213=) c.*448G= (n.*448G=) c.228G= (p.Lys76=) c.420G= (p.Lys140=) n.418G= c.662G= c.*485G= (n.*485G=) n.735G= c.507G= (p.Lys169=) n.543G= c.143-28221G= | |
| 4 | g.105399094C>G | CA357790658 | PPA2 | c.726G>C (p.Lys242Asn) c.639G>C (p.Lys213Asn) c.*448G>C (n.*448G>C) c.228G>C (p.Lys76Asn) c.420G>C (p.Lys140Asn) n.418G>C c.662G>C c.*485G>C (n.*485G>C) n.735G>C c.507G>C (p.Lys169Asn) n.543G>C c.143-28221G>C | |
| 4 | g.105399094C>T | CA440539287 | PPA2 | c.726G>A (p.Lys242=) c.639G>A (p.Lys213=) c.*448G>A (n.*448G>A) c.228G>A (p.Lys76=) c.420G>A (p.Lys140=) n.418G>A c.662G>A c.*485G>A (n.*485G>A) n.735G>A c.507G>A (p.Lys169=) n.543G>A c.143-28221G>A | dbSNP |
| 4 | g.105399095T>A | CA357790665 | PPA2 | c.725A>T (p.Lys242Met) c.638A>T (p.Lys213Met) c.*447A>T (n.*447A>T) c.227A>T (p.Lys76Met) c.419A>T (p.Lys140Met) n.417A>T c.661A>T c.*484A>T (n.*484A>T) n.734A>T c.506A>T (p.Lys169Met) n.542A>T c.143-28222A>T | |
| 4 | g.105399095T>C | CA357790661 | PPA2 | c.725A>G (p.Lys242Arg) c.638A>G (p.Lys213Arg) c.*447A>G (n.*447A>G) c.227A>G (p.Lys76Arg) c.419A>G (p.Lys140Arg) n.417A>G c.661A>G c.*484A>G (n.*484A>G) n.734A>G c.506A>G (p.Lys169Arg) n.542A>G c.143-28222A>G | |
| 4 | g.105399095T>G | CA357790663 | PPA2 | c.725A>C (p.Lys242Thr) c.638A>C (p.Lys213Thr) c.*447A>C (n.*447A>C) c.227A>C (p.Lys76Thr) c.419A>C (p.Lys140Thr) n.417A>C c.661A>C c.*484A>C (n.*484A>C) n.734A>C c.506A>C (p.Lys169Thr) n.542A>C c.143-28222A>C | |
| 4 | g.105399096T>A | CA357790668 | PPA2 | c.724A>T (p.Lys242Ter) c.637A>T (p.Lys213Ter) c.*446A>T (n.*446A>T) c.226A>T (p.Lys76Ter) c.418A>T (p.Lys140Ter) n.416A>T c.660A>T c.*483A>T (n.*483A>T) n.733A>T c.505A>T (p.Lys169Ter) n.541A>T c.143-28223A>T | |
| 4 | g.105399096T>C | CA357790670 | PPA2 | c.724A>G (p.Lys242Glu) c.637A>G (p.Lys213Glu) c.*446A>G (n.*446A>G) c.226A>G (p.Lys76Glu) c.418A>G (p.Lys140Glu) n.416A>G c.660A>G c.*483A>G (n.*483A>G) n.733A>G c.505A>G (p.Lys169Glu) n.541A>G c.143-28223A>G | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.105399096T>G | CA357790672 | PPA2 | c.724A>C (p.Lys242Gln) c.637A>C (p.Lys213Gln) c.*446A>C (n.*446A>C) c.226A>C (p.Lys76Gln) c.418A>C (p.Lys140Gln) n.416A>C c.660A>C c.*483A>C (n.*483A>C) n.733A>C c.505A>C (p.Lys169Gln) n.541A>C c.143-28223A>C | |
| 4 | g.105399096T= | CA1482764852 | PPA2 | c.724A= (p.Lys242=) c.637A= (p.Lys213=) c.*446A= (n.*446A=) c.226A= (p.Lys76=) c.418A= (p.Lys140=) n.416A= c.660A= c.*483A= (n.*483A=) n.733A= c.505A= (p.Lys169=) n.541A= c.143-28223A= | |
| 4 | g.105399097A>C | CA357790674 | PPA2 | c.723T>G (p.Tyr241Ter) c.636T>G (p.Tyr212Ter) c.*445T>G (n.*445T>G) c.225T>G (p.Tyr75Ter) c.417T>G (p.Tyr139Ter) n.415T>G c.659T>G c.*482T>G (n.*482T>G) n.732T>G c.504T>G (p.Tyr168Ter) n.540T>G c.143-28224T>G | |
| 4 | g.105399097A>G | CA440539290 | PPA2 | c.723T>C (p.Tyr241=) c.636T>C (p.Tyr212=) c.*445T>C (n.*445T>C) c.225T>C (p.Tyr75=) c.417T>C (p.Tyr139=) n.415T>C c.659T>C c.*482T>C (n.*482T>C) n.732T>C c.504T>C (p.Tyr168=) n.540T>C c.143-28224T>C | |
| 4 | g.105399097A>T | CA357790676 | PPA2 | c.723T>A (p.Tyr241Ter) c.636T>A (p.Tyr212Ter) c.*445T>A (n.*445T>A) c.225T>A (p.Tyr75Ter) c.417T>A (p.Tyr139Ter) n.415T>A c.659T>A c.*482T>A (n.*482T>A) n.732T>A c.504T>A (p.Tyr168Ter) n.540T>A c.143-28224T>A | |
| 4 | g.105399098T>A | CA357790678 | PPA2 | c.722A>T (p.Tyr241Phe) c.635A>T (p.Tyr212Phe) c.*444A>T (n.*444A>T) c.224A>T (p.Tyr75Phe) c.416A>T (p.Tyr139Phe) n.414A>T c.658A>T c.*481A>T (n.*481A>T) n.731A>T c.503A>T (p.Tyr168Phe) n.539A>T c.143-28225A>T | gnomAD v4 |
| 4 | g.105399098T>C | CA357790682 | PPA2 | c.722A>G (p.Tyr241Cys) c.635A>G (p.Tyr212Cys) c.*444A>G (n.*444A>G) c.224A>G (p.Tyr75Cys) c.416A>G (p.Tyr139Cys) n.414A>G c.658A>G c.*481A>G (n.*481A>G) n.731A>G c.503A>G (p.Tyr168Cys) n.539A>G c.143-28225A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.105399098T>G | CA357790680 | PPA2 | c.722A>C (p.Tyr241Ser) c.635A>C (p.Tyr212Ser) c.*444A>C (n.*444A>C) c.224A>C (p.Tyr75Ser) c.416A>C (p.Tyr139Ser) n.414A>C c.658A>C c.*481A>C (n.*481A>C) n.731A>C c.503A>C (p.Tyr168Ser) n.539A>C c.143-28225A>C | |
| 4 | g.105399098T= | CA1482764856 | PPA2 | c.722A= (p.Tyr241=) c.635A= (p.Tyr212=) c.*444A= (n.*444A=) c.224A= (p.Tyr75=) c.416A= (p.Tyr139=) n.414A= c.658A= c.*481A= (n.*481A=) n.731A= c.503A= (p.Tyr168=) n.539A= c.143-28225A= | |
| 4 | g.105399100_105399106del | CA2695203707 | PPA2 | c.716_722del (p.Arg239IlefsTer?) c.629_635del (p.Arg210IlefsTer?) c.*438_*444del (n.*438_*444del) c.218_224del (p.Arg73IlefsTer?) c.410_416del (p.Arg137IlefsTer?) n.408_414del c.652_658del c.*475_*481del (n.*475_*481del) n.725_731del c.497_503del (p.Arg166IlefsTer?) n.533_539del c.143-28231_143-28225del | |
| 4 | g.105399099A= | CA1482764858 | PPA2 | c.721T= (p.Tyr241=) c.634T= (p.Tyr212=) c.*443T= (n.*443T=) c.223T= (p.Tyr75=) c.415T= (p.Tyr139=) n.413T= c.657T= c.*480T= (n.*480T=) n.730T= c.502T= (p.Tyr168=) n.538T= c.143-28226T= | |
| 4 | g.105399099A>C | CA357790684 | PPA2 | c.721T>G (p.Tyr241Asp) c.634T>G (p.Tyr212Asp) c.*443T>G (n.*443T>G) c.223T>G (p.Tyr75Asp) c.415T>G (p.Tyr139Asp) n.413T>G c.657T>G c.*480T>G (n.*480T>G) n.730T>G c.502T>G (p.Tyr168Asp) n.538T>G c.143-28226T>G | |
| 4 | g.105399099A>G | CA357790688 | PPA2 | c.721T>C (p.Tyr241His) c.634T>C (p.Tyr212His) c.*443T>C (n.*443T>C) c.223T>C (p.Tyr75His) c.415T>C (p.Tyr139His) n.413T>C c.657T>C c.*480T>C (n.*480T>C) n.730T>C c.502T>C (p.Tyr168His) n.538T>C c.143-28226T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399099A>T | CA357790686 | PPA2 | c.721T>A (p.Tyr241Asn) c.634T>A (p.Tyr212Asn) c.*443T>A (n.*443T>A) c.223T>A (p.Tyr75Asn) c.415T>A (p.Tyr139Asn) n.413T>A c.657T>A c.*480T>A (n.*480T>A) n.730T>A c.502T>A (p.Tyr168Asn) n.538T>A c.143-28226T>A | |
| 4 | g.105399100T>A | CA357790690 | PPA2 | c.720A>T (p.Leu240Phe) c.633A>T (p.Leu211Phe) c.*442A>T (n.*442A>T) c.222A>T (p.Leu74Phe) c.414A>T (p.Leu138Phe) n.412A>T c.656A>T c.*479A>T (n.*479A>T) n.729A>T c.501A>T (p.Leu167Phe) n.537A>T c.143-28227A>T | gnomAD v4 |
| 4 | g.105399100T>C | CA440539293 | PPA2 | c.720A>G (p.Leu240=) c.633A>G (p.Leu211=) c.*442A>G (n.*442A>G) c.222A>G (p.Leu74=) c.414A>G (p.Leu138=) n.412A>G c.656A>G c.*479A>G (n.*479A>G) n.729A>G c.501A>G (p.Leu167=) n.537A>G c.143-28227A>G | |
| 4 | g.105399100T>G | CA357790691 | PPA2 | c.720A>C (p.Leu240Phe) c.633A>C (p.Leu211Phe) c.*442A>C (n.*442A>C) c.222A>C (p.Leu74Phe) c.414A>C (p.Leu138Phe) n.412A>C c.656A>C c.*479A>C (n.*479A>C) n.729A>C c.501A>C (p.Leu167Phe) n.537A>C c.143-28227A>C | |
| 4 | g.105399101A>C | CA357790694 | PPA2 | c.719T>G (p.Leu240Ter) c.632T>G (p.Leu211Ter) c.*441T>G (n.*441T>G) c.221T>G (p.Leu74Ter) c.413T>G (p.Leu138Ter) n.411T>G c.655T>G c.*478T>G (n.*478T>G) n.728T>G c.500T>G (p.Leu167Ter) n.536T>G c.143-28228T>G | |
| 4 | g.105399101A>G | CA357790696 | PPA2 | c.719T>C (p.Leu240Ser) c.632T>C (p.Leu211Ser) c.*441T>C (n.*441T>C) c.221T>C (p.Leu74Ser) c.413T>C (p.Leu138Ser) n.411T>C c.655T>C c.*478T>C (n.*478T>C) n.728T>C c.500T>C (p.Leu167Ser) n.536T>C c.143-28228T>C | |
| 4 | g.105399101A>T | CA357790698 | PPA2 | c.719T>A (p.Leu240Ter) c.632T>A (p.Leu211Ter) c.*441T>A (n.*441T>A) c.221T>A (p.Leu74Ter) c.413T>A (p.Leu138Ter) n.411T>A c.655T>A c.*478T>A (n.*478T>A) n.728T>A c.500T>A (p.Leu167Ter) n.536T>A c.143-28228T>A | |
| 4 | g.105399102A>C | CA357790701 | PPA2 | c.718T>G (p.Leu240Val) c.631T>G (p.Leu211Val) c.*440T>G (n.*440T>G) c.220T>G (p.Leu74Val) c.412T>G (p.Leu138Val) n.410T>G c.654T>G c.*477T>G (n.*477T>G) n.727T>G c.499T>G (p.Leu167Val) n.535T>G c.143-28229T>G | |
| 4 | g.105399102A>G | CA440539297 | PPA2 | c.718T>C (p.Leu240=) c.631T>C (p.Leu211=) c.*440T>C (n.*440T>C) c.220T>C (p.Leu74=) c.412T>C (p.Leu138=) n.410T>C c.654T>C c.*477T>C (n.*477T>C) n.727T>C c.499T>C (p.Leu167=) n.535T>C c.143-28229T>C | |
| 4 | g.105399102A>T | CA357790703 | PPA2 | c.718T>A (p.Leu240Ile) c.631T>A (p.Leu211Ile) c.*440T>A (n.*440T>A) c.220T>A (p.Leu74Ile) c.412T>A (p.Leu138Ile) n.410T>A c.654T>A c.*477T>A (n.*477T>A) n.727T>A c.499T>A (p.Leu167Ile) n.535T>A c.143-28229T>A | |
| 4 | g.105399103T>A | CA357790705 | PPA2 | c.717A>T (p.Arg239Ser) c.630A>T (p.Arg210Ser) c.*439A>T (n.*439A>T) c.219A>T (p.Arg73Ser) c.411A>T (p.Arg137Ser) n.409A>T c.653A>T c.*476A>T (n.*476A>T) n.726A>T c.498A>T (p.Arg166Ser) n.534A>T c.143-28230A>T | |
| 4 | g.105399103T>C | CA440539298 | PPA2 | c.717A>G (p.Arg239=) c.630A>G (p.Arg210=) c.*439A>G (n.*439A>G) c.219A>G (p.Arg73=) c.411A>G (p.Arg137=) n.409A>G c.653A>G c.*476A>G (n.*476A>G) n.726A>G c.498A>G (p.Arg166=) n.534A>G c.143-28230A>G | |
| 4 | g.105399103T>G | CA357790707 | PPA2 | c.717A>C (p.Arg239Ser) c.630A>C (p.Arg210Ser) c.*439A>C (n.*439A>C) c.219A>C (p.Arg73Ser) c.411A>C (p.Arg137Ser) n.409A>C c.653A>C c.*476A>C (n.*476A>C) n.726A>C c.498A>C (p.Arg166Ser) n.534A>C c.143-28230A>C | |
| 4 | g.105399104C>A | CA357790710 | PPA2 | c.716G>T (p.Arg239Ile) c.629G>T (p.Arg210Ile) c.*438G>T (n.*438G>T) c.218G>T (p.Arg73Ile) c.410G>T (p.Arg137Ile) n.408G>T c.652G>T c.*475G>T (n.*475G>T) n.725G>T c.497G>T (p.Arg166Ile) n.533G>T c.143-28231G>T | |
| 4 | g.105399104C>G | CA357790712 | PPA2 | c.716G>C (p.Arg239Thr) c.629G>C (p.Arg210Thr) c.*438G>C (n.*438G>C) c.218G>C (p.Arg73Thr) c.410G>C (p.Arg137Thr) n.408G>C c.652G>C c.*475G>C (n.*475G>C) n.725G>C c.497G>C (p.Arg166Thr) n.533G>C c.143-28231G>C | |
| 4 | g.105399104C>T | CA357790714 | PPA2 | c.716G>A (p.Arg239Lys) c.629G>A (p.Arg210Lys) c.*438G>A (n.*438G>A) c.218G>A (p.Arg73Lys) c.410G>A (p.Arg137Lys) n.408G>A c.652G>A c.*475G>A (n.*475G>A) n.725G>A c.497G>A (p.Arg166Lys) n.533G>A c.143-28231G>A | |
| 4 | g.105399105T>A | CA357790717 | PPA2 | c.715A>T (p.Arg239Ter) c.628A>T (p.Arg210Ter) c.*437A>T (n.*437A>T) c.217A>T (p.Arg73Ter) c.409A>T (p.Arg137Ter) n.407A>T c.651A>T c.*474A>T (n.*474A>T) n.724A>T c.496A>T (p.Arg166Ter) n.532A>T c.143-28232A>T | |
| 4 | g.105399105T>C | CA357790718 | PPA2 | c.715A>G (p.Arg239Gly) c.628A>G (p.Arg210Gly) c.*437A>G (n.*437A>G) c.217A>G (p.Arg73Gly) c.409A>G (p.Arg137Gly) n.407A>G c.651A>G c.*474A>G (n.*474A>G) n.724A>G c.496A>G (p.Arg166Gly) n.532A>G c.143-28232A>G | |
| 4 | g.105399105T>G | CA440539300 | PPA2 | c.715A>C (p.Arg239=) c.628A>C (p.Arg210=) c.*437A>C (n.*437A>C) c.217A>C (p.Arg73=) c.409A>C (p.Arg137=) n.407A>C c.651A>C c.*474A>C (n.*474A>C) n.724A>C c.496A>C (p.Arg166=) n.532A>C c.143-28232A>C | |
| 4 | g.105399106A= | CA1482764860 | PPA2 | c.714T= (p.Phe238=) c.627T= (p.Phe209=) c.*436T= (n.*436T=) c.216T= (p.Phe72=) c.408T= (p.Phe136=) n.406T= c.650T= c.*473T= (n.*473T=) n.723T= c.495T= (p.Phe165=) n.531T= c.143-28233T= | |
| 4 | g.105399106A>C | CA357790721 | PPA2 | c.714T>G (p.Phe238Leu) c.627T>G (p.Phe209Leu) c.*436T>G (n.*436T>G) c.216T>G (p.Phe72Leu) c.408T>G (p.Phe136Leu) n.406T>G c.650T>G c.*473T>G (n.*473T>G) n.723T>G c.495T>G (p.Phe165Leu) n.531T>G c.143-28233T>G | |
| 4 | g.105399106A>G | CA440539301 | PPA2 | c.714T>C (p.Phe238=) c.627T>C (p.Phe209=) c.*436T>C (n.*436T>C) c.216T>C (p.Phe72=) c.408T>C (p.Phe136=) n.406T>C c.650T>C c.*473T>C (n.*473T>C) n.723T>C c.495T>C (p.Phe165=) n.531T>C c.143-28233T>C | ClinVar dbSNP gnomAD v4 |
| 4 | g.105399106A>T | CA357790723 | PPA2 | c.714T>A (p.Phe238Leu) c.627T>A (p.Phe209Leu) c.*436T>A (n.*436T>A) c.216T>A (p.Phe72Leu) c.408T>A (p.Phe136Leu) n.406T>A c.650T>A c.*473T>A (n.*473T>A) n.723T>A c.495T>A (p.Phe165Leu) n.531T>A c.143-28233T>A | |
| 4 | g.105399107A>C | CA357790726 | PPA2 | c.713T>G (p.Phe238Cys) c.626T>G (p.Phe209Cys) c.*435T>G (n.*435T>G) c.215T>G (p.Phe72Cys) c.407T>G (p.Phe136Cys) n.405T>G c.649T>G c.*472T>G (n.*472T>G) n.722T>G c.494T>G (p.Phe165Cys) n.530T>G c.143-28234T>G | |
| 4 | g.105399107A>G | CA357790728 | PPA2 | c.713T>C (p.Phe238Ser) c.626T>C (p.Phe209Ser) c.*435T>C (n.*435T>C) c.215T>C (p.Phe72Ser) c.407T>C (p.Phe136Ser) n.405T>C c.649T>C c.*472T>C (n.*472T>C) n.722T>C c.494T>C (p.Phe165Ser) n.530T>C c.143-28234T>C | |
| 4 | g.105399107A>T | CA357790730 | PPA2 | c.713T>A (p.Phe238Tyr) c.626T>A (p.Phe209Tyr) c.*435T>A (n.*435T>A) c.215T>A (p.Phe72Tyr) c.407T>A (p.Phe136Tyr) n.405T>A c.649T>A c.*472T>A (n.*472T>A) n.722T>A c.494T>A (p.Phe165Tyr) n.530T>A c.143-28234T>A | |
| 4 | g.105399108A>C | CA357790733 | PPA2 | c.712T>G (p.Phe238Val) c.625T>G (p.Phe209Val) c.*434T>G (n.*434T>G) c.214T>G (p.Phe72Val) c.406T>G (p.Phe136Val) n.404T>G c.648T>G c.*471T>G (n.*471T>G) n.721T>G c.493T>G (p.Phe165Val) n.529T>G c.143-28235T>G | |
| 4 | g.105399108A>G | CA357790735 | PPA2 | c.712T>C (p.Phe238Leu) c.625T>C (p.Phe209Leu) c.*434T>C (n.*434T>C) c.214T>C (p.Phe72Leu) c.406T>C (p.Phe136Leu) n.404T>C c.648T>C c.*471T>C (n.*471T>C) n.721T>C c.493T>C (p.Phe165Leu) n.529T>C c.143-28235T>C | |
| 4 | g.105399108A>T | CA357790736 | PPA2 | c.712T>A (p.Phe238Ile) c.625T>A (p.Phe209Ile) c.*434T>A (n.*434T>A) c.214T>A (p.Phe72Ile) c.406T>A (p.Phe136Ile) n.404T>A c.648T>A c.*471T>A (n.*471T>A) n.721T>A c.493T>A (p.Phe165Ile) n.529T>A c.143-28235T>A | |
| 4 | g.105399109C>A | CA357790739 | PPA2 | c.711G>T (p.Trp237Cys) c.624G>T (p.Trp208Cys) c.*433G>T (n.*433G>T) c.213G>T (p.Trp71Cys) c.405G>T (p.Trp135Cys) n.403G>T c.647G>T c.*470G>T (n.*470G>T) n.720G>T c.492G>T (p.Trp164Cys) n.528G>T c.143-28236G>T | |
| 4 | g.105399109C= | CA1482764864 | PPA2 | c.711G= (p.Trp237=) c.624G= (p.Trp208=) c.*433G= (n.*433G=) c.213G= (p.Trp71=) c.405G= (p.Trp135=) n.403G= c.647G= c.*470G= (n.*470G=) n.720G= c.492G= (p.Trp164=) n.528G= c.143-28236G= | |
| 4 | g.105399109C>G | CA357790741 | PPA2 | c.711G>C (p.Trp237Cys) c.624G>C (p.Trp208Cys) c.*433G>C (n.*433G>C) c.213G>C (p.Trp71Cys) c.405G>C (p.Trp135Cys) n.403G>C c.647G>C c.*470G>C (n.*470G>C) n.720G>C c.492G>C (p.Trp164Cys) n.528G>C c.143-28236G>C | |
| 4 | g.105399109C>T | CA357790742 | PPA2 | c.711G>A (p.Trp237Ter) c.624G>A (p.Trp208Ter) c.*433G>A (n.*433G>A) c.213G>A (p.Trp71Ter) c.405G>A (p.Trp135Ter) n.403G>A c.647G>A c.*470G>A (n.*470G>A) n.720G>A c.492G>A (p.Trp164Ter) n.528G>A c.143-28236G>A | dbSNP |
| 4 | g.105399110C>A | CA357790746 | PPA2 | c.710G>T (p.Trp237Leu) c.623G>T (p.Trp208Leu) c.*432G>T (n.*432G>T) c.212G>T (p.Trp71Leu) c.404G>T (p.Trp135Leu) n.402G>T c.646G>T c.*469G>T (n.*469G>T) n.719G>T c.491G>T (p.Trp164Leu) n.527G>T c.143-28237G>T | |
| 4 | g.105399110C>G | CA357790747 | PPA2 | c.710G>C (p.Trp237Ser) c.623G>C (p.Trp208Ser) c.*432G>C (n.*432G>C) c.212G>C (p.Trp71Ser) c.404G>C (p.Trp135Ser) n.402G>C c.646G>C c.*469G>C (n.*469G>C) n.719G>C c.491G>C (p.Trp164Ser) n.527G>C c.143-28237G>C | |
| 4 | g.105399110C>T | CA357790749 | PPA2 | c.710G>A (p.Trp237Ter) c.623G>A (p.Trp208Ter) c.*432G>A (n.*432G>A) c.212G>A (p.Trp71Ter) c.404G>A (p.Trp135Ter) n.402G>A c.646G>A c.*469G>A (n.*469G>A) n.719G>A c.491G>A (p.Trp164Ter) n.527G>A c.143-28237G>A | gnomAD v4 |
| 4 | g.105399111A>C | CA357790751 | PPA2 | c.709T>G (p.Trp237Gly) c.622T>G (p.Trp208Gly) c.*431T>G (n.*431T>G) c.211T>G (p.Trp71Gly) c.403T>G (p.Trp135Gly) n.401T>G c.645T>G c.*468T>G (n.*468T>G) n.718T>G c.490T>G (p.Trp164Gly) n.526T>G c.143-28238T>G | |
| 4 | g.105399111A>G | CA357790755 | PPA2 | c.709T>C (p.Trp237Arg) c.622T>C (p.Trp208Arg) c.*431T>C (n.*431T>C) c.211T>C (p.Trp71Arg) c.403T>C (p.Trp135Arg) n.401T>C c.645T>C c.*468T>C (n.*468T>C) n.718T>C c.490T>C (p.Trp164Arg) n.526T>C c.143-28238T>C | |
| 4 | g.105399111A>T | CA357790753 | PPA2 | c.709T>A (p.Trp237Arg) c.622T>A (p.Trp208Arg) c.*431T>A (n.*431T>A) c.211T>A (p.Trp71Arg) c.403T>A (p.Trp135Arg) n.401T>A c.645T>A c.*468T>A (n.*468T>A) n.718T>A c.490T>A (p.Trp164Arg) n.526T>A c.143-28238T>A | |
| 4 | g.105399112A>C | CA357790759 | PPA2 | c.708T>G (p.Asn236Lys) c.621T>G (p.Asn207Lys) c.*430T>G (n.*430T>G) c.210T>G (p.Asn70Lys) c.402T>G (p.Asn134Lys) n.400T>G c.644T>G c.*467T>G (n.*467T>G) n.717T>G c.489T>G (p.Asn163Lys) n.525T>G c.143-28239T>G | COSMIC COSMIC |
| 4 | g.105399112A>G | CA440539307 | PPA2 | c.708T>C (p.Asn236=) c.621T>C (p.Asn207=) c.*430T>C (n.*430T>C) c.210T>C (p.Asn70=) c.402T>C (p.Asn134=) n.400T>C c.644T>C c.*467T>C (n.*467T>C) n.717T>C c.489T>C (p.Asn163=) n.525T>C c.143-28239T>C | |
| 4 | g.105399112A>T | CA357790760 | PPA2 | c.708T>A (p.Asn236Lys) c.621T>A (p.Asn207Lys) c.*430T>A (n.*430T>A) c.210T>A (p.Asn70Lys) c.402T>A (p.Asn134Lys) n.400T>A c.644T>A c.*467T>A (n.*467T>A) n.717T>A c.489T>A (p.Asn163Lys) n.525T>A c.143-28239T>A | |
| 4 | g.105399113T>A | CA357790763 | PPA2 | c.707A>T (p.Asn236Ile) c.620A>T (p.Asn207Ile) c.*429A>T (n.*429A>T) c.209A>T (p.Asn70Ile) c.401A>T (p.Asn134Ile) n.399A>T c.643A>T c.*466A>T (n.*466A>T) n.716A>T c.488A>T (p.Asn163Ile) n.524A>T c.143-28240A>T | |
| 4 | g.105399113T>C | CA357790765 | PPA2 | c.707A>G (p.Asn236Ser) c.620A>G (p.Asn207Ser) c.*429A>G (n.*429A>G) c.209A>G (p.Asn70Ser) c.401A>G (p.Asn134Ser) n.399A>G c.643A>G c.*466A>G (n.*466A>G) n.716A>G c.488A>G (p.Asn163Ser) n.524A>G c.143-28240A>G | |
| 4 | g.105399113T>G | CA357790767 | PPA2 | c.707A>C (p.Asn236Thr) c.620A>C (p.Asn207Thr) c.*429A>C (n.*429A>C) c.209A>C (p.Asn70Thr) c.401A>C (p.Asn134Thr) n.399A>C c.643A>C c.*466A>C (n.*466A>C) n.716A>C c.488A>C (p.Asn163Thr) n.524A>C c.143-28240A>C | |
| 4 | g.105399114T>A | CA357790770 | PPA2 | c.706A>T (p.Asn236Tyr) c.619A>T (p.Asn207Tyr) c.*428A>T (n.*428A>T) c.208A>T (p.Asn70Tyr) c.400A>T (p.Asn134Tyr) n.398A>T c.642A>T c.*465A>T (n.*465A>T) n.715A>T c.487A>T (p.Asn163Tyr) n.523A>T c.143-28241A>T | |
| 4 | g.105399114T>C | CA357790771 | PPA2 | c.706A>G (p.Asn236Asp) c.619A>G (p.Asn207Asp) c.*428A>G (n.*428A>G) c.208A>G (p.Asn70Asp) c.400A>G (p.Asn134Asp) n.398A>G c.642A>G c.*465A>G (n.*465A>G) n.715A>G c.487A>G (p.Asn163Asp) n.523A>G c.143-28241A>G | gnomAD v4 |
| 4 | g.105399114T>G | CA357790773 | PPA2 | c.706A>C (p.Asn236His) c.619A>C (p.Asn207His) c.*428A>C (n.*428A>C) c.208A>C (p.Asn70His) c.400A>C (p.Asn134His) n.398A>C c.642A>C c.*465A>C (n.*465A>C) n.715A>C c.487A>C (p.Asn163His) n.523A>C c.143-28241A>C | |
| 4 | g.105399115A= | CA1482764869 | PPA2 | c.705T= (p.Leu235=) c.618T= (p.Leu206=) c.*427T= (n.*427T=) c.207T= (p.Leu69=) c.399T= (p.Leu133=) n.397T= c.641T= c.*464T= (n.*464T=) n.714T= c.486T= (p.Leu162=) n.522T= c.143-28242T= | |
| 4 | g.105399115A>C | CA440539308 | PPA2 | c.705T>G (p.Leu235=) c.618T>G (p.Leu206=) c.*427T>G (n.*427T>G) c.207T>G (p.Leu69=) c.399T>G (p.Leu133=) n.397T>G c.641T>G c.*464T>G (n.*464T>G) n.714T>G c.486T>G (p.Leu162=) n.522T>G c.143-28242T>G | |
| 4 | g.105399115A>G | CA440539309 | PPA2 | c.705T>C (p.Leu235=) c.618T>C (p.Leu206=) c.*427T>C (n.*427T>C) c.207T>C (p.Leu69=) c.399T>C (p.Leu133=) n.397T>C c.641T>C c.*464T>C (n.*464T>C) n.714T>C c.486T>C (p.Leu162=) n.522T>C c.143-28242T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399115A>T | CA440539310 | PPA2 | c.705T>A (p.Leu235=) c.618T>A (p.Leu206=) c.*427T>A (n.*427T>A) c.207T>A (p.Leu69=) c.399T>A (p.Leu133=) n.397T>A c.641T>A c.*464T>A (n.*464T>A) n.714T>A c.486T>A (p.Leu162=) n.522T>A c.143-28242T>A | |
| 4 | g.105399116A>C | CA357790776 | PPA2 | c.704T>G (p.Leu235Arg) c.617T>G (p.Leu206Arg) c.*426T>G (n.*426T>G) c.206T>G (p.Leu69Arg) c.398T>G (p.Leu133Arg) n.396T>G c.640T>G c.*463T>G (n.*463T>G) n.713T>G c.485T>G (p.Leu162Arg) n.521T>G c.143-28243T>G | |
| 4 | g.105399116A>G | CA357790778 | PPA2 | c.704T>C (p.Leu235Pro) c.617T>C (p.Leu206Pro) c.*426T>C (n.*426T>C) c.206T>C (p.Leu69Pro) c.398T>C (p.Leu133Pro) n.396T>C c.640T>C c.*463T>C (n.*463T>C) n.713T>C c.485T>C (p.Leu162Pro) n.521T>C c.143-28243T>C | |
| 4 | g.105399116A>T | CA357790780 | PPA2 | c.704T>A (p.Leu235His) c.617T>A (p.Leu206His) c.*426T>A (n.*426T>A) c.206T>A (p.Leu69His) c.398T>A (p.Leu133His) n.396T>A c.640T>A c.*463T>A (n.*463T>A) n.713T>A c.485T>A (p.Leu162His) n.521T>A c.143-28243T>A | |
| 4 | g.105399117G>A | CA3032447 | PPA2 | c.703C>T (p.Leu235Phe) c.616C>T (p.Leu206Phe) c.*425C>T (n.*425C>T) c.205C>T (p.Leu69Phe) c.397C>T (p.Leu133Phe) n.395C>T c.639C>T c.*462C>T (n.*462C>T) n.712C>T c.484C>T (p.Leu162Phe) n.520C>T c.143-28244C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399117G>C | CA357790785 | PPA2 | c.703C>G (p.Leu235Val) c.616C>G (p.Leu206Val) c.*425C>G (n.*425C>G) c.205C>G (p.Leu69Val) c.397C>G (p.Leu133Val) n.395C>G c.639C>G c.*462C>G (n.*462C>G) n.712C>G c.484C>G (p.Leu162Val) n.520C>G c.143-28244C>G | gnomAD v4 |
| 4 | g.105399117G= | CA1482764872 | PPA2 | c.703C= (p.Leu235=) c.616C= (p.Leu206=) c.*425C= (n.*425C=) c.205C= (p.Leu69=) c.397C= (p.Leu133=) n.395C= c.639C= c.*462C= (n.*462C=) n.712C= c.484C= (p.Leu162=) n.520C= c.143-28244C= | |
| 4 | g.105399117G>T | CA357790782 | PPA2 | c.703C>A (p.Leu235Ile) c.616C>A (p.Leu206Ile) c.*425C>A (n.*425C>A) c.205C>A (p.Leu69Ile) c.397C>A (p.Leu133Ile) n.395C>A c.639C>A c.*462C>A (n.*462C>A) n.712C>A c.484C>A (p.Leu162Ile) n.520C>A c.143-28244C>A | |
| 4 | g.105399118A= | CA1482764874 | PPA2 | c.702T= (p.Thr234=) c.615T= (p.Thr205=) c.*424T= (n.*424T=) c.204T= (p.Thr68=) c.396T= (p.Thr132=) n.394T= c.638T= c.*461T= (n.*461T=) n.711T= c.483T= (p.Thr161=) n.519T= c.143-28245T= | |
| 4 | g.105399118A>C | CA440539313 | PPA2 | c.702T>G (p.Thr234=) c.615T>G (p.Thr205=) c.*424T>G (n.*424T>G) c.204T>G (p.Thr68=) c.396T>G (p.Thr132=) n.394T>G c.638T>G c.*461T>G (n.*461T>G) n.711T>G c.483T>G (p.Thr161=) n.519T>G c.143-28245T>G | |
| 4 | g.105399118A>G | CA440539314 | PPA2 | c.702T>C (p.Thr234=) c.615T>C (p.Thr205=) c.*424T>C (n.*424T>C) c.204T>C (p.Thr68=) c.396T>C (p.Thr132=) n.394T>C c.638T>C c.*461T>C (n.*461T>C) n.711T>C c.483T>C (p.Thr161=) n.519T>C c.143-28245T>C | |
| 4 | g.105399118A>T | CA102782494 | PPA2 | c.702T>A (p.Thr234=) c.615T>A (p.Thr205=) c.*424T>A (n.*424T>A) c.204T>A (p.Thr68=) c.396T>A (p.Thr132=) n.394T>A c.638T>A c.*461T>A (n.*461T>A) n.711T>A c.483T>A (p.Thr161=) n.519T>A c.143-28245T>A | dbSNP |
| 4 | g.105399119G>A | CA357790787 | PPA2 | c.701C>T (p.Thr234Ile) c.614C>T (p.Thr205Ile) c.*423C>T (n.*423C>T) c.203C>T (p.Thr68Ile) c.395C>T (p.Thr132Ile) n.393C>T c.637C>T c.*460C>T (n.*460C>T) n.710C>T c.482C>T (p.Thr161Ile) n.518C>T c.143-28246C>T | gnomAD v4 |
| 4 | g.105399119G>C | CA357790789 | PPA2 | c.701C>G (p.Thr234Ser) c.614C>G (p.Thr205Ser) c.*423C>G (n.*423C>G) c.203C>G (p.Thr68Ser) c.395C>G (p.Thr132Ser) n.393C>G c.637C>G c.*460C>G (n.*460C>G) n.710C>G c.482C>G (p.Thr161Ser) n.518C>G c.143-28246C>G | gnomAD v4 |
| 4 | g.105399119G>T | CA357790792 | PPA2 | c.701C>A (p.Thr234Asn) c.614C>A (p.Thr205Asn) c.*423C>A (n.*423C>A) c.203C>A (p.Thr68Asn) c.395C>A (p.Thr132Asn) n.393C>A c.637C>A c.*460C>A (n.*460C>A) n.710C>A c.482C>A (p.Thr161Asn) n.518C>A c.143-28246C>A | |
| 4 | g.105399120T>A | CA357790794 | PPA2 | c.700A>T (p.Thr234Ser) c.613A>T (p.Thr205Ser) c.*422A>T (n.*422A>T) c.202A>T (p.Thr68Ser) c.394A>T (p.Thr132Ser) n.392A>T c.636A>T c.*459A>T (n.*459A>T) n.709A>T c.481A>T (p.Thr161Ser) n.517A>T c.143-28247A>T | |
| 4 | g.105399120T>C | CA357790797 | PPA2 | c.700A>G (p.Thr234Ala) c.613A>G (p.Thr205Ala) c.*422A>G (n.*422A>G) c.202A>G (p.Thr68Ala) c.394A>G (p.Thr132Ala) n.392A>G c.636A>G c.*459A>G (n.*459A>G) n.709A>G c.481A>G (p.Thr161Ala) n.517A>G c.143-28247A>G | |
| 4 | g.105399120T>G | CA357790798 | PPA2 | c.700A>C (p.Thr234Pro) c.613A>C (p.Thr205Pro) c.*422A>C (n.*422A>C) c.202A>C (p.Thr68Pro) c.394A>C (p.Thr132Pro) n.392A>C c.636A>C c.*459A>C (n.*459A>C) n.709A>C c.481A>C (p.Thr161Pro) n.517A>C c.143-28247A>C | |
| 4 | g.105399121A>C | CA440539318 | PPA2 | c.699T>G (p.Ala233=) c.612T>G (p.Ala204=) c.*421T>G (n.*421T>G) c.201T>G (p.Ala67=) c.393T>G (p.Ala131=) n.391T>G c.635T>G c.*458T>G (n.*458T>G) n.708T>G c.480T>G (p.Ala160=) n.516T>G c.143-28248T>G | |
| 4 | g.105399121A>G | CA440539316 | PPA2 | c.699T>C (p.Ala233=) c.612T>C (p.Ala204=) c.*421T>C (n.*421T>C) c.201T>C (p.Ala67=) c.393T>C (p.Ala131=) n.391T>C c.635T>C c.*458T>C (n.*458T>C) n.708T>C c.480T>C (p.Ala160=) n.516T>C c.143-28248T>C | |
| 4 | g.105399121A>T | CA440539317 | PPA2 | c.699T>A (p.Ala233=) c.612T>A (p.Ala204=) c.*421T>A (n.*421T>A) c.201T>A (p.Ala67=) c.393T>A (p.Ala131=) n.391T>A c.635T>A c.*458T>A (n.*458T>A) n.708T>A c.480T>A (p.Ala160=) n.516T>A c.143-28248T>A | |
| 4 | g.105399122G>A | CA357790802 | PPA2 | c.698C>T (p.Ala233Val) c.611C>T (p.Ala204Val) c.*420C>T (n.*420C>T) c.200C>T (p.Ala67Val) c.392C>T (p.Ala131Val) n.390C>T c.634C>T c.*457C>T (n.*457C>T) n.707C>T c.479C>T (p.Ala160Val) n.515C>T c.143-28249C>T | |
| 4 | g.105399122G>C | CA357790804 | PPA2 | c.698C>G (p.Ala233Gly) c.611C>G (p.Ala204Gly) c.*420C>G (n.*420C>G) c.200C>G (p.Ala67Gly) c.392C>G (p.Ala131Gly) n.390C>G c.634C>G c.*457C>G (n.*457C>G) n.707C>G c.479C>G (p.Ala160Gly) n.515C>G c.143-28249C>G | |
| 4 | g.105399122G>T | CA357790806 | PPA2 | c.698C>A (p.Ala233Asp) c.611C>A (p.Ala204Asp) c.*420C>A (n.*420C>A) c.200C>A (p.Ala67Asp) c.392C>A (p.Ala131Asp) n.390C>A c.634C>A c.*457C>A (n.*457C>A) n.707C>A c.479C>A (p.Ala160Asp) n.515C>A c.143-28249C>A | |
| 4 | g.105399123C>A | CA357790810 | PPA2 | c.697G>T (p.Ala233Ser) c.610G>T (p.Ala204Ser) c.*419G>T (n.*419G>T) c.199G>T (p.Ala67Ser) c.391G>T (p.Ala131Ser) n.389G>T c.633G>T c.*456G>T (n.*456G>T) n.706G>T c.478G>T (p.Ala160Ser) n.514G>T c.143-28250G>T | |
| 4 | g.105399123C= | CA1482764876 | PPA2 | c.697G= (p.Ala233=) c.610G= (p.Ala204=) c.*419G= (n.*419G=) c.199G= (p.Ala67=) c.391G= (p.Ala131=) n.389G= c.633G= c.*456G= (n.*456G=) n.706G= c.478G= (p.Ala160=) n.514G= c.143-28250G= | |
| 4 | g.105399123C>G | CA357790812 | PPA2 | c.697G>C (p.Ala233Pro) c.610G>C (p.Ala204Pro) c.*419G>C (n.*419G>C) c.199G>C (p.Ala67Pro) c.391G>C (p.Ala131Pro) n.389G>C c.633G>C c.*456G>C (n.*456G>C) n.706G>C c.478G>C (p.Ala160Pro) n.514G>C c.143-28250G>C | ClinVar dbSNP |
| 4 | g.105399123C>T | CA357790814 | PPA2 | c.697G>A (p.Ala233Thr) c.610G>A (p.Ala204Thr) c.*419G>A (n.*419G>A) c.199G>A (p.Ala67Thr) c.391G>A (p.Ala131Thr) n.389G>A c.633G>A c.*456G>A (n.*456G>A) n.706G>A c.478G>A (p.Ala160Thr) n.514G>A c.143-28250G>A | |
| 4 | g.105399124T>A | CA357790818 | PPA2 | c.696A>T (p.Glu232Asp) c.609A>T (p.Glu203Asp) c.*418A>T (n.*418A>T) c.198A>T (p.Glu66Asp) c.390A>T (p.Glu130Asp) n.388A>T c.632A>T c.*455A>T (n.*455A>T) n.705A>T c.477A>T (p.Glu159Asp) n.513A>T c.143-28251A>T | |
| 4 | g.105399124T>C | CA440539320 | PPA2 | c.696A>G (p.Glu232=) c.609A>G (p.Glu203=) c.*418A>G (n.*418A>G) c.198A>G (p.Glu66=) c.390A>G (p.Glu130=) n.388A>G c.632A>G c.*455A>G (n.*455A>G) n.705A>G c.477A>G (p.Glu159=) n.513A>G c.143-28251A>G | |
| 4 | g.105399124T>G | CA357790817 | PPA2 | c.696A>C (p.Glu232Asp) c.609A>C (p.Glu203Asp) c.*418A>C (n.*418A>C) c.198A>C (p.Glu66Asp) c.390A>C (p.Glu130Asp) n.388A>C c.632A>C c.*455A>C (n.*455A>C) n.705A>C c.477A>C (p.Glu159Asp) n.513A>C c.143-28251A>C | |
| 4 | g.105399125T>A | CA357790820 | PPA2 | c.695A>T (p.Glu232Val) c.608A>T (p.Glu203Val) c.*417A>T (n.*417A>T) c.197A>T (p.Glu66Val) c.389A>T (p.Glu130Val) n.387A>T c.631A>T c.*454A>T (n.*454A>T) n.704A>T c.476A>T (p.Glu159Val) n.512A>T c.143-28252A>T | gnomAD v4 |
| 4 | g.105399125T>C | CA357790825 | PPA2 | c.695A>G (p.Glu232Gly) c.608A>G (p.Glu203Gly) c.*417A>G (n.*417A>G) c.197A>G (p.Glu66Gly) c.389A>G (p.Glu130Gly) n.387A>G c.631A>G c.*454A>G (n.*454A>G) n.704A>G c.476A>G (p.Glu159Gly) n.512A>G c.143-28252A>G | |
| 4 | g.105399125T>G | CA357790823 | PPA2 | c.695A>C (p.Glu232Ala) c.608A>C (p.Glu203Ala) c.*417A>C (n.*417A>C) c.197A>C (p.Glu66Ala) c.389A>C (p.Glu130Ala) n.387A>C c.631A>C c.*454A>C (n.*454A>C) n.704A>C c.476A>C (p.Glu159Ala) n.512A>C c.143-28252A>C | |
| 4 | g.105399126C>A | CA357790829 | PPA2 | c.694G>T (p.Glu232Ter) c.607G>T (p.Glu203Ter) c.*416G>T (n.*416G>T) c.196G>T (p.Glu66Ter) c.388G>T (p.Glu130Ter) n.386G>T c.630G>T c.*453G>T (n.*453G>T) n.703G>T c.475G>T (p.Glu159Ter) n.511G>T c.143-28253G>T | |
| 4 | g.105399126C>G | CA357790830 | PPA2 | c.694G>C (p.Glu232Gln) c.607G>C (p.Glu203Gln) c.*416G>C (n.*416G>C) c.196G>C (p.Glu66Gln) c.388G>C (p.Glu130Gln) n.386G>C c.630G>C c.*453G>C (n.*453G>C) n.703G>C c.475G>C (p.Glu159Gln) n.511G>C c.143-28253G>C | |
| 4 | g.105399126C>T | CA357790833 | PPA2 | c.694G>A (p.Glu232Lys) c.607G>A (p.Glu203Lys) c.*416G>A (n.*416G>A) c.196G>A (p.Glu66Lys) c.388G>A (p.Glu130Lys) n.386G>A c.630G>A c.*453G>A (n.*453G>A) n.703G>A c.475G>A (p.Glu159Lys) n.511G>A c.143-28253G>A | |
| 4 | g.105399127C>A | CA440539321 | PPA2 | c.693G>T (p.Leu231=) c.606G>T (p.Leu202=) c.*415G>T (n.*415G>T) c.195G>T (p.Leu65=) c.387G>T (p.Leu129=) n.385G>T c.629G>T c.*452G>T (n.*452G>T) n.702G>T c.474G>T (p.Leu158=) n.510G>T c.143-28254G>T | |
| 4 | g.105399127C>G | CA440539322 | PPA2 | c.693G>C (p.Leu231=) c.606G>C (p.Leu202=) c.*415G>C (n.*415G>C) c.195G>C (p.Leu65=) c.387G>C (p.Leu129=) n.385G>C c.629G>C c.*452G>C (n.*452G>C) n.702G>C c.474G>C (p.Leu158=) n.510G>C c.143-28254G>C | |
| 4 | g.105399127C>T | CA440539323 | PPA2 | c.693G>A (p.Leu231=) c.606G>A (p.Leu202=) c.*415G>A (n.*415G>A) c.195G>A (p.Leu65=) c.387G>A (p.Leu129=) n.385G>A c.629G>A c.*452G>A (n.*452G>A) n.702G>A c.474G>A (p.Leu158=) n.510G>A c.143-28254G>A | |
| 4 | g.105399128A>C | CA357790835 | PPA2 | c.692T>G (p.Leu231Arg) c.605T>G (p.Leu202Arg) c.*414T>G (n.*414T>G) c.194T>G (p.Leu65Arg) c.386T>G (p.Leu129Arg) n.384T>G c.628T>G c.*451T>G (n.*451T>G) n.701T>G c.473T>G (p.Leu158Arg) n.509T>G c.143-28255T>G | |
| 4 | g.105399128A>G | CA357790838 | PPA2 | c.692T>C (p.Leu231Pro) c.605T>C (p.Leu202Pro) c.*414T>C (n.*414T>C) c.194T>C (p.Leu65Pro) c.386T>C (p.Leu129Pro) n.384T>C c.628T>C c.*451T>C (n.*451T>C) n.701T>C c.473T>C (p.Leu158Pro) n.509T>C c.143-28255T>C | |
| 4 | g.105399128A>T | CA357790840 | PPA2 | c.692T>A (p.Leu231Gln) c.605T>A (p.Leu202Gln) c.*414T>A (n.*414T>A) c.194T>A (p.Leu65Gln) c.386T>A (p.Leu129Gln) n.384T>A c.628T>A c.*451T>A (n.*451T>A) n.701T>A c.473T>A (p.Leu158Gln) n.509T>A c.143-28255T>A | |
| 4 | g.105399129G>A | CA440539325 | PPA2 | c.691C>T (p.Leu231=) c.604C>T (p.Leu202=) c.*413C>T (n.*413C>T) c.193C>T (p.Leu65=) c.385C>T (p.Leu129=) n.383C>T c.627C>T c.*450C>T (n.*450C>T) n.700C>T c.472C>T (p.Leu158=) n.508C>T c.143-28256C>T | |
| 4 | g.105399129G>C | CA357790843 | PPA2 | c.691C>G (p.Leu231Val) c.604C>G (p.Leu202Val) c.*413C>G (n.*413C>G) c.193C>G (p.Leu65Val) c.385C>G (p.Leu129Val) n.383C>G c.627C>G c.*450C>G (n.*450C>G) n.700C>G c.472C>G (p.Leu158Val) n.508C>G c.143-28256C>G | |
| 4 | g.105399129G>T | CA357790844 | PPA2 | c.691C>A (p.Leu231Met) c.604C>A (p.Leu202Met) c.*413C>A (n.*413C>A) c.193C>A (p.Leu65Met) c.385C>A (p.Leu129Met) n.383C>A c.627C>A c.*450C>A (n.*450C>A) n.700C>A c.472C>A (p.Leu158Met) n.508C>A c.143-28256C>A | gnomAD v4 |
| 4 | g.105399130G>A | CA440539326 | PPA2 | c.690C>T (p.Tyr230=) c.603C>T (p.Tyr201=) c.*412C>T (n.*412C>T) c.192C>T (p.Tyr64=) c.384C>T (p.Tyr128=) n.382C>T c.626C>T c.*449C>T (n.*449C>T) n.699C>T c.471C>T (p.Tyr157=) n.507C>T c.143-28257C>T | |
| 4 | g.105399130G>C | CA357790848 | PPA2 | c.690C>G (p.Tyr230Ter) c.603C>G (p.Tyr201Ter) c.*412C>G (n.*412C>G) c.192C>G (p.Tyr64Ter) c.384C>G (p.Tyr128Ter) n.382C>G c.626C>G c.*449C>G (n.*449C>G) n.699C>G c.471C>G (p.Tyr157Ter) n.507C>G c.143-28257C>G | |
| 4 | g.105399130G>T | CA357790849 | PPA2 | c.690C>A (p.Tyr230Ter) c.603C>A (p.Tyr201Ter) c.*412C>A (n.*412C>A) c.192C>A (p.Tyr64Ter) c.384C>A (p.Tyr128Ter) n.382C>A c.626C>A c.*449C>A (n.*449C>A) n.699C>A c.471C>A (p.Tyr157Ter) n.507C>A c.143-28257C>A | |
| 4 | g.105399131T>A | CA357790852 | PPA2 | c.689A>T (p.Tyr230Phe) c.602A>T (p.Tyr201Phe) c.*411A>T (n.*411A>T) c.191A>T (p.Tyr64Phe) c.383A>T (p.Tyr128Phe) n.381A>T c.625A>T c.*448A>T (n.*448A>T) n.698A>T c.470A>T (p.Tyr157Phe) n.506A>T c.143-28258A>T | |
| 4 | g.105399131T>C | CA3032448 | PPA2 | c.689A>G (p.Tyr230Cys) c.602A>G (p.Tyr201Cys) c.*411A>G (n.*411A>G) c.191A>G (p.Tyr64Cys) c.383A>G (p.Tyr128Cys) n.381A>G c.625A>G c.*448A>G (n.*448A>G) n.698A>G c.470A>G (p.Tyr157Cys) n.506A>G c.143-28258A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.105399131T>G | CA357790855 | PPA2 | c.689A>C (p.Tyr230Ser) c.602A>C (p.Tyr201Ser) c.*411A>C (n.*411A>C) c.191A>C (p.Tyr64Ser) c.383A>C (p.Tyr128Ser) n.381A>C c.625A>C c.*448A>C (n.*448A>C) n.698A>C c.470A>C (p.Tyr157Ser) n.506A>C c.143-28258A>C | |
| 4 | g.105399131T= | CA1482764879 | PPA2 | c.689A= (p.Tyr230=) c.602A= (p.Tyr201=) c.*411A= (n.*411A=) c.191A= (p.Tyr64=) c.383A= (p.Tyr128=) n.381A= c.625A= c.*448A= (n.*448A=) n.698A= c.470A= (p.Tyr157=) n.506A= c.143-28258A= | |
| 4 | g.105399132A= | CA1482764882 | PPA2 | c.688T= (p.Tyr230=) c.601T= (p.Tyr201=) c.*410T= (n.*410T=) c.190T= (p.Tyr64=) c.382T= (p.Tyr128=) n.380T= c.624T= c.*447T= (n.*447T=) n.697T= c.469T= (p.Tyr157=) n.505T= c.143-28259T= | |
| 4 | g.105399132A>C | CA357790858 | PPA2 | c.688T>G (p.Tyr230Asp) c.601T>G (p.Tyr201Asp) c.*410T>G (n.*410T>G) c.190T>G (p.Tyr64Asp) c.382T>G (p.Tyr128Asp) n.380T>G c.624T>G c.*447T>G (n.*447T>G) n.697T>G c.469T>G (p.Tyr157Asp) n.505T>G c.143-28259T>G | |
| 4 | g.105399132A>G | CA357790862 | PPA2 | c.688T>C (p.Tyr230His) c.601T>C (p.Tyr201His) c.*410T>C (n.*410T>C) c.190T>C (p.Tyr64His) c.382T>C (p.Tyr128His) n.380T>C c.624T>C c.*447T>C (n.*447T>C) n.697T>C c.469T>C (p.Tyr157His) n.505T>C c.143-28259T>C | dbSNP |
| 4 | g.105399132A>T | CA357790860 | PPA2 | c.688T>A (p.Tyr230Asn) c.601T>A (p.Tyr201Asn) c.*410T>A (n.*410T>A) c.190T>A (p.Tyr64Asn) c.382T>A (p.Tyr128Asn) n.380T>A c.624T>A c.*447T>A (n.*447T>A) n.697T>A c.469T>A (p.Tyr157Asn) n.505T>A c.143-28259T>A | |
| 4 | g.105399135_105399145del | CA2578160366 | PPA2 | c.678_688del (p.Phe226LeufsTer7) c.591_601del (p.Phe197LeufsTer7) c.*400_*410del (n.*400_*410del) c.180_190del (p.Phe60LeufsTer7) c.372_382del (p.Phe124LeufsTer7) n.370_380del c.614_624del c.*437_*447del (n.*437_*447del) n.687_697del c.459_469del (p.Phe153LeufsTer7) n.495_505del c.143-28269_143-28259del | |
| 4 | g.105399133A= | CA1482764885 | PPA2 | c.687T= (p.Gly229=) c.600T= (p.Gly200=) c.*409T= (n.*409T=) c.189T= (p.Gly63=) c.381T= (p.Gly127=) n.379T= c.623T= c.*446T= (n.*446T=) n.696T= c.468T= (p.Gly156=) n.504T= c.143-28260T= | |
| 4 | g.105399133A>C | CA440539327 | PPA2 | c.687T>G (p.Gly229=) c.600T>G (p.Gly200=) c.*409T>G (n.*409T>G) c.189T>G (p.Gly63=) c.381T>G (p.Gly127=) n.379T>G c.623T>G c.*446T>G (n.*446T>G) n.696T>G c.468T>G (p.Gly156=) n.504T>G c.143-28260T>G | |
| 4 | g.105399133A>G | CA440539328 | PPA2 | c.687T>C (p.Gly229=) c.600T>C (p.Gly200=) c.*409T>C (n.*409T>C) c.189T>C (p.Gly63=) c.381T>C (p.Gly127=) n.379T>C c.623T>C c.*446T>C (n.*446T>C) n.696T>C c.468T>C (p.Gly156=) n.504T>C c.143-28260T>C | |
| 4 | g.105399133A>T | CA440539329 | PPA2 | c.687T>A (p.Gly229=) c.600T>A (p.Gly200=) c.*409T>A (n.*409T>A) c.189T>A (p.Gly63=) c.381T>A (p.Gly127=) n.379T>A c.623T>A c.*446T>A (n.*446T>A) n.696T>A c.468T>A (p.Gly156=) n.504T>A c.143-28260T>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399134C>A | CA357790866 | PPA2 | c.686G>T (p.Gly229Val) c.599G>T (p.Gly200Val) c.*408G>T (n.*408G>T) c.188G>T (p.Gly63Val) c.380G>T (p.Gly127Val) n.378G>T c.622G>T c.*445G>T (n.*445G>T) n.695G>T c.467G>T (p.Gly156Val) n.503G>T c.143-28261G>T | ClinVar dbSNP |
| 4 | g.105399134C= | CA1482764888 | PPA2 | c.686G= (p.Gly229=) c.599G= (p.Gly200=) c.*408G= (n.*408G=) c.188G= (p.Gly63=) c.380G= (p.Gly127=) n.378G= c.622G= c.*445G= (n.*445G=) n.695G= c.467G= (p.Gly156=) n.503G= c.143-28261G= | |
| 4 | g.105399134C>G | CA357790867 | PPA2 | c.686G>C (p.Gly229Ala) c.599G>C (p.Gly200Ala) c.*408G>C (n.*408G>C) c.188G>C (p.Gly63Ala) c.380G>C (p.Gly127Ala) n.378G>C c.622G>C c.*445G>C (n.*445G>C) n.695G>C c.467G>C (p.Gly156Ala) n.503G>C c.143-28261G>C | dbSNP gnomAD v2 |
| 4 | g.105399134C>T | CA357790869 | PPA2 | c.686G>A (p.Gly229Asp) c.599G>A (p.Gly200Asp) c.*408G>A (n.*408G>A) c.188G>A (p.Gly63Asp) c.380G>A (p.Gly127Asp) n.378G>A c.622G>A c.*445G>A (n.*445G>A) n.695G>A c.467G>A (p.Gly156Asp) n.503G>A c.143-28261G>A | gnomAD v4 |
| 4 | g.105399135C>A | CA357790873 | PPA2 | c.685G>T (p.Gly229Cys) c.598G>T (p.Gly200Cys) c.*407G>T (n.*407G>T) c.187G>T (p.Gly63Cys) c.379G>T (p.Gly127Cys) n.377G>T c.621G>T c.*444G>T (n.*444G>T) n.694G>T c.466G>T (p.Gly156Cys) n.502G>T c.143-28262G>T | gnomAD v4 |
| 4 | g.105399135C>G | CA357790874 | PPA2 | c.685G>C (p.Gly229Arg) c.598G>C (p.Gly200Arg) c.*407G>C (n.*407G>C) c.187G>C (p.Gly63Arg) c.379G>C (p.Gly127Arg) n.377G>C c.621G>C c.*444G>C (n.*444G>C) n.694G>C c.466G>C (p.Gly156Arg) n.502G>C c.143-28262G>C | |
| 4 | g.105399135C>T | CA357790875 | PPA2 | c.685G>A (p.Gly229Ser) c.598G>A (p.Gly200Ser) c.*407G>A (n.*407G>A) c.187G>A (p.Gly63Ser) c.379G>A (p.Gly127Ser) n.377G>A c.621G>A c.*444G>A (n.*444G>A) n.694G>A c.466G>A (p.Gly156Ser) n.502G>A c.143-28262G>A | |
| 4 | g.105399136C>A | CA440539330 | PPA2 | c.684G>T (p.Pro228=) c.597G>T (p.Pro199=) c.*406G>T (n.*406G>T) c.186G>T (p.Pro62=) c.378G>T (p.Pro126=) n.376G>T c.620G>T c.*443G>T (n.*443G>T) n.693G>T c.465G>T (p.Pro155=) n.501G>T c.143-28263G>T | |
| 4 | g.105399136C= | CA1482764891 | PPA2 | c.684G= (p.Pro228=) c.597G= (p.Pro199=) c.*406G= (n.*406G=) c.186G= (p.Pro62=) c.378G= (p.Pro126=) n.376G= c.620G= c.*443G= (n.*443G=) n.693G= c.465G= (p.Pro155=) n.501G= c.143-28263G= | |
| 4 | g.105399136C>G | CA440539331 | PPA2 | c.684G>C (p.Pro228=) c.597G>C (p.Pro199=) c.*406G>C (n.*406G>C) c.186G>C (p.Pro62=) c.378G>C (p.Pro126=) n.376G>C c.620G>C c.*443G>C (n.*443G>C) n.693G>C c.465G>C (p.Pro155=) n.501G>C c.143-28263G>C | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.105399136C>T | CA3032449 | PPA2 | c.684G>A (p.Pro228=) c.597G>A (p.Pro199=) c.*406G>A (n.*406G>A) c.186G>A (p.Pro62=) c.378G>A (p.Pro126=) n.376G>A c.620G>A c.*443G>A (n.*443G>A) n.693G>A c.465G>A (p.Pro155=) n.501G>A c.143-28263G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399137G>A | CA3032450 | PPA2 | c.683C>T (p.Pro228Leu) c.596C>T (p.Pro199Leu) c.*405C>T (n.*405C>T) c.185C>T (p.Pro62Leu) c.377C>T (p.Pro126Leu) n.375C>T c.619C>T c.*442C>T (n.*442C>T) n.692C>T c.464C>T (p.Pro155Leu) n.500C>T c.143-28264C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.105399137G>C | CA357790881 | PPA2 | c.683C>G (p.Pro228Arg) c.596C>G (p.Pro199Arg) c.*405C>G (n.*405C>G) c.185C>G (p.Pro62Arg) c.377C>G (p.Pro126Arg) n.375C>G c.619C>G c.*442C>G (n.*442C>G) n.692C>G c.464C>G (p.Pro155Arg) n.500C>G c.143-28264C>G | |
| 4 | g.105399137G= | CA1482764896 | PPA2 | c.683C= (p.Pro228=) c.596C= (p.Pro199=) c.*405C= (n.*405C=) c.185C= (p.Pro62=) c.377C= (p.Pro126=) n.375C= c.619C= c.*442C= (n.*442C=) n.692C= c.464C= (p.Pro155=) n.500C= c.143-28264C= | |
| 4 | g.105399137G>T | CA357790883 | PPA2 | c.683C>A (p.Pro228Gln) c.596C>A (p.Pro199Gln) c.*405C>A (n.*405C>A) c.185C>A (p.Pro62Gln) c.377C>A (p.Pro126Gln) n.375C>A c.619C>A c.*442C>A (n.*442C>A) n.692C>A c.464C>A (p.Pro155Gln) n.500C>A c.143-28264C>A | gnomAD v4 |
| 4 | g.105399138del | CA2762949743 | PPA2 | c.683del (p.Pro228ArgfsTer?) c.596del (p.Pro199ArgfsTer?) c.*405del (n.*405del) c.185del (p.Pro62ArgfsTer?) c.377del (p.Pro126ArgfsTer?) n.375del c.619del c.*442del (n.*442del) n.692del c.464del (p.Pro155ArgfsTer?) n.500del c.143-28264del | |
| 4 | g.105399138G>A | CA357790890 | PPA2 | c.682C>T (p.Pro228Ser) c.595C>T (p.Pro199Ser) c.*404C>T (n.*404C>T) c.184C>T (p.Pro62Ser) c.376C>T (p.Pro126Ser) n.374C>T c.618C>T c.*441C>T (n.*441C>T) n.691C>T c.463C>T (p.Pro155Ser) n.499C>T c.143-28265C>T | |
| 4 | g.105399138G>C | CA357790888 | PPA2 | c.682C>G (p.Pro228Ala) c.595C>G (p.Pro199Ala) c.*404C>G (n.*404C>G) c.184C>G (p.Pro62Ala) c.376C>G (p.Pro126Ala) n.374C>G c.618C>G c.*441C>G (n.*441C>G) n.691C>G c.463C>G (p.Pro155Ala) n.499C>G c.143-28265C>G | gnomAD v4 |
| 4 | g.105399138G>T | CA357790886 | PPA2 | c.682C>A (p.Pro228Thr) c.595C>A (p.Pro199Thr) c.*404C>A (n.*404C>A) c.184C>A (p.Pro62Thr) c.376C>A (p.Pro126Thr) n.374C>A c.618C>A c.*441C>A (n.*441C>A) n.691C>A c.463C>A (p.Pro155Thr) n.499C>A c.143-28265C>A | |
| 4 | g.105399139T>A | CA357790893 | PPA2 | c.681A>T (p.Lys227Asn) c.594A>T (p.Lys198Asn) c.*403A>T (n.*403A>T) c.183A>T (p.Lys61Asn) c.375A>T (p.Lys125Asn) n.373A>T c.617A>T c.*440A>T (n.*440A>T) n.690A>T c.462A>T (p.Lys154Asn) n.498A>T c.143-28266A>T | |
| 4 | g.105399139T>C | CA440539332 | PPA2 | c.681A>G (p.Lys227=) c.594A>G (p.Lys198=) c.*403A>G (n.*403A>G) c.183A>G (p.Lys61=) c.375A>G (p.Lys125=) n.373A>G c.617A>G c.*440A>G (n.*440A>G) n.690A>G c.462A>G (p.Lys154=) n.498A>G c.143-28266A>G | |
| 4 | g.105399139T>G | CA357790895 | PPA2 | c.681A>C (p.Lys227Asn) c.594A>C (p.Lys198Asn) c.*403A>C (n.*403A>C) c.183A>C (p.Lys61Asn) c.375A>C (p.Lys125Asn) n.373A>C c.617A>C c.*440A>C (n.*440A>C) n.690A>C c.462A>C (p.Lys154Asn) n.498A>C c.143-28266A>C | |
| 4 | g.105399140T>A | CA357790898 | PPA2 | c.680A>T (p.Lys227Ile) c.593A>T (p.Lys198Ile) c.*402A>T (n.*402A>T) c.182A>T (p.Lys61Ile) c.374A>T (p.Lys125Ile) n.372A>T c.616A>T c.*439A>T (n.*439A>T) n.689A>T c.461A>T (p.Lys154Ile) n.497A>T c.143-28267A>T | |
| 4 | g.105399140T>C | CA357790900 | PPA2 | c.680A>G (p.Lys227Arg) c.593A>G (p.Lys198Arg) c.*402A>G (n.*402A>G) c.182A>G (p.Lys61Arg) c.374A>G (p.Lys125Arg) n.372A>G c.616A>G c.*439A>G (n.*439A>G) n.689A>G c.461A>G (p.Lys154Arg) n.497A>G c.143-28267A>G | |
| 4 | g.105399140T>G | CA357790901 | PPA2 | c.680A>C (p.Lys227Thr) c.593A>C (p.Lys198Thr) c.*402A>C (n.*402A>C) c.182A>C (p.Lys61Thr) c.374A>C (p.Lys125Thr) n.372A>C c.616A>C c.*439A>C (n.*439A>C) n.689A>C c.461A>C (p.Lys154Thr) n.497A>C c.143-28267A>C | |
| 4 | g.105399141T>A | CA357790904 | PPA2 | c.679A>T (p.Lys227Ter) c.592A>T (p.Lys198Ter) c.*401A>T (n.*401A>T) c.181A>T (p.Lys61Ter) c.373A>T (p.Lys125Ter) n.371A>T c.615A>T c.*438A>T (n.*438A>T) n.688A>T c.460A>T (p.Lys154Ter) n.496A>T c.143-28268A>T | |
| 4 | g.105399141T>C | CA357790905 | PPA2 | c.679A>G (p.Lys227Glu) c.592A>G (p.Lys198Glu) c.*401A>G (n.*401A>G) c.181A>G (p.Lys61Glu) c.373A>G (p.Lys125Glu) n.371A>G c.615A>G c.*438A>G (n.*438A>G) n.688A>G c.460A>G (p.Lys154Glu) n.496A>G c.143-28268A>G | gnomAD v4 |
| 4 | g.105399141T>G | CA357790906 | PPA2 | c.679A>C (p.Lys227Gln) c.592A>C (p.Lys198Gln) c.*401A>C (n.*401A>C) c.181A>C (p.Lys61Gln) c.373A>C (p.Lys125Gln) n.371A>C c.615A>C c.*438A>C (n.*438A>C) n.688A>C c.460A>C (p.Lys154Gln) n.496A>C c.143-28268A>C | |
| 4 | g.105399142G>A | CA440539333 | PPA2 | c.678C>T (p.Phe226=) c.591C>T (p.Phe197=) c.*400C>T (n.*400C>T) c.180C>T (p.Phe60=) c.372C>T (p.Phe124=) n.370C>T c.614C>T c.*437C>T (n.*437C>T) n.687C>T c.459C>T (p.Phe153=) n.495C>T c.143-28269C>T | |
| 4 | g.105399142G>C | CA357790908 | PPA2 | c.678C>G (p.Phe226Leu) c.591C>G (p.Phe197Leu) c.*400C>G (n.*400C>G) c.180C>G (p.Phe60Leu) c.372C>G (p.Phe124Leu) n.370C>G c.614C>G c.*437C>G (n.*437C>G) n.687C>G c.459C>G (p.Phe153Leu) n.495C>G c.143-28269C>G | |
| 4 | g.105399142G>T | CA357790910 | PPA2 | c.678C>A (p.Phe226Leu) c.591C>A (p.Phe197Leu) c.*400C>A (n.*400C>A) c.180C>A (p.Phe60Leu) c.372C>A (p.Phe124Leu) n.370C>A c.614C>A c.*437C>A (n.*437C>A) n.687C>A c.459C>A (p.Phe153Leu) n.495C>A c.143-28269C>A | |
| 4 | g.105399143A>C | CA357790912 | PPA2 | c.677T>G (p.Phe226Cys) c.590T>G (p.Phe197Cys) c.*399T>G (n.*399T>G) c.179T>G (p.Phe60Cys) c.371T>G (p.Phe124Cys) n.369T>G c.613T>G c.*436T>G (n.*436T>G) n.686T>G c.458T>G (p.Phe153Cys) n.494T>G c.143-28270T>G | |
| 4 | g.105399143A>G | CA357790914 | PPA2 | c.677T>C (p.Phe226Ser) c.590T>C (p.Phe197Ser) c.*399T>C (n.*399T>C) c.179T>C (p.Phe60Ser) c.371T>C (p.Phe124Ser) n.369T>C c.613T>C c.*436T>C (n.*436T>C) n.686T>C c.458T>C (p.Phe153Ser) n.494T>C c.143-28270T>C | |
| 4 | g.105399143A>T | CA357790916 | PPA2 | c.677T>A (p.Phe226Tyr) c.590T>A (p.Phe197Tyr) c.*399T>A (n.*399T>A) c.179T>A (p.Phe60Tyr) c.371T>A (p.Phe124Tyr) n.369T>A c.613T>A c.*436T>A (n.*436T>A) n.686T>A c.458T>A (p.Phe153Tyr) n.494T>A c.143-28270T>A |