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 |
|---|---|---|---|---|---|
| 1 | g.6474060_6474151delinsGGGCGGGGGGCCCGGTCCCAGCTGGCCGCAGAATCGGCAAACTCAGGGACTTGGAGTCCTTCATGCCCTGCTCCACCTTGCCCTCATCTCCA | CA1151505791 | PLEKHG5 | c.453_544delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro151=) c.627_718delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro209=) c.564_655delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro188=) n.929_1020delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC c.660_751delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro220=) c.750_841delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro250=) c.*665_*756delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (n.*665_*756delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC) c.*281_*372delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (n.*281_*372delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC) c.684_775delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro228=) c.621_712delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro207=) c.690_781delinsTGGAGATGAGGGCAAGGTGGAGCAGGGCATGAAGGACTCCAAGTCCCTGAGTTTGCCGATTCTGCGGCCAGCTGGGACCGGGCCCCCCGCCC (p.Pro230=) | |
| 1 | g.6474064_6474154del | CA915941107 | PLEKHG5 | c.453_543del (p.Gly152TrpfsTer?) c.627_717del (p.Gly210TrpfsTer?) c.564_654del (p.Gly189TrpfsTer?) n.929_1019del c.660_750del (p.Gly221TrpfsTer?) c.750_840del (p.Gly251TrpfsTer?) c.*665_*755del (n.*665_*755del) c.*281_*371del (n.*281_*371del) c.684_774del (p.Gly229TrpfsTer?) c.621_711del (p.Gly208TrpfsTer?) c.690_780del (p.Gly231TrpfsTer?) | ClinVar dbSNP |
| 1 | g.6474144C>A | CA338138886 | PLEKHG5 | c.460G>T (p.Glu154Ter) c.634G>T (p.Glu212Ter) c.571G>T (p.Glu191Ter) n.936G>T c.667G>T (p.Glu223Ter) c.757G>T (p.Glu253Ter) c.*672G>T (n.*672G>T) c.*288G>T (n.*288G>T) c.691G>T (p.Glu231Ter) c.628G>T (p.Glu210Ter) c.697G>T (p.Glu233Ter) | |
| 1 | g.6474144C>G | CA338138887 | PLEKHG5 | c.460G>C (p.Glu154Gln) c.634G>C (p.Glu212Gln) c.571G>C (p.Glu191Gln) n.936G>C c.667G>C (p.Glu223Gln) c.757G>C (p.Glu253Gln) c.*672G>C (n.*672G>C) c.*288G>C (n.*288G>C) c.691G>C (p.Glu231Gln) c.628G>C (p.Glu210Gln) c.697G>C (p.Glu233Gln) | COSMIC COSMIC COSMIC |
| 1 | g.6474144C>T | CA338138889 | PLEKHG5 | c.460G>A (p.Glu154Lys) c.634G>A (p.Glu212Lys) c.571G>A (p.Glu191Lys) n.936G>A c.667G>A (p.Glu223Lys) c.757G>A (p.Glu253Lys) c.*672G>A (n.*672G>A) c.*288G>A (n.*288G>A) c.691G>A (p.Glu231Lys) c.628G>A (p.Glu210Lys) c.697G>A (p.Glu233Lys) | |
| 1 | g.6474145A>C | CA338138893 | PLEKHG5 | c.459T>G (p.Asp153Glu) c.633T>G (p.Asp211Glu) c.570T>G (p.Asp190Glu) n.935T>G c.666T>G (p.Asp222Glu) c.756T>G (p.Asp252Glu) c.*671T>G (n.*671T>G) c.*287T>G (n.*287T>G) c.690T>G (p.Asp230Glu) c.627T>G (p.Asp209Glu) c.696T>G (p.Asp232Glu) | |
| 1 | g.6474145A>G | CA415834010 | PLEKHG5 | c.459T>C (p.Asp153=) c.633T>C (p.Asp211=) c.570T>C (p.Asp190=) n.935T>C c.666T>C (p.Asp222=) c.756T>C (p.Asp252=) c.*671T>C (n.*671T>C) c.*287T>C (n.*287T>C) c.690T>C (p.Asp230=) c.627T>C (p.Asp209=) c.696T>C (p.Asp232=) | |
| 1 | g.6474145A>T | CA338138891 | PLEKHG5 | c.459T>A (p.Asp153Glu) c.633T>A (p.Asp211Glu) c.570T>A (p.Asp190Glu) n.935T>A c.666T>A (p.Asp222Glu) c.756T>A (p.Asp252Glu) c.*671T>A (n.*671T>A) c.*287T>A (n.*287T>A) c.690T>A (p.Asp230Glu) c.627T>A (p.Asp209Glu) c.696T>A (p.Asp232Glu) | |
| 1 | g.6474146T>A | CA338138895 | PLEKHG5 | c.458A>T (p.Asp153Val) c.632A>T (p.Asp211Val) c.569A>T (p.Asp190Val) n.934A>T c.665A>T (p.Asp222Val) c.755A>T (p.Asp252Val) c.*670A>T (n.*670A>T) c.*286A>T (n.*286A>T) c.689A>T (p.Asp230Val) c.626A>T (p.Asp209Val) c.695A>T (p.Asp232Val) | |
| 1 | g.6474146T>C | CA561839 | PLEKHG5 | c.458A>G (p.Asp153Gly) c.632A>G (p.Asp211Gly) c.569A>G (p.Asp190Gly) n.934A>G c.665A>G (p.Asp222Gly) c.755A>G (p.Asp252Gly) c.*670A>G (n.*670A>G) c.*286A>G (n.*286A>G) c.689A>G (p.Asp230Gly) c.626A>G (p.Asp209Gly) c.695A>G (p.Asp232Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6474146T>G | CA338138898 | PLEKHG5 | c.458A>C (p.Asp153Ala) c.632A>C (p.Asp211Ala) c.569A>C (p.Asp190Ala) n.934A>C c.665A>C (p.Asp222Ala) c.755A>C (p.Asp252Ala) c.*670A>C (n.*670A>C) c.*286A>C (n.*286A>C) c.689A>C (p.Asp230Ala) c.626A>C (p.Asp209Ala) c.695A>C (p.Asp232Ala) | |
| 1 | g.6474146T= | CA1151506094 | PLEKHG5 | c.458A= (p.Asp153=) c.632A= (p.Asp211=) c.569A= (p.Asp190=) n.934A= c.665A= (p.Asp222=) c.755A= (p.Asp252=) c.*670A= (n.*670A=) c.*286A= (n.*286A=) c.689A= (p.Asp230=) c.626A= (p.Asp209=) c.695A= (p.Asp232=) | |
| 1 | g.6474147C>A | CA338138899 | PLEKHG5 | c.457G>T (p.Asp153Tyr) c.631G>T (p.Asp211Tyr) c.568G>T (p.Asp190Tyr) n.933G>T c.664G>T (p.Asp222Tyr) c.754G>T (p.Asp252Tyr) c.*669G>T (n.*669G>T) c.*285G>T (n.*285G>T) c.688G>T (p.Asp230Tyr) c.625G>T (p.Asp209Tyr) c.694G>T (p.Asp232Tyr) | |
| 1 | g.6474147C>G | CA338138900 | PLEKHG5 | c.457G>C (p.Asp153His) c.631G>C (p.Asp211His) c.568G>C (p.Asp190His) n.933G>C c.664G>C (p.Asp222His) c.754G>C (p.Asp252His) c.*669G>C (n.*669G>C) c.*285G>C (n.*285G>C) c.688G>C (p.Asp230His) c.625G>C (p.Asp209His) c.694G>C (p.Asp232His) | |
| 1 | g.6474147C>T | CA338138902 | PLEKHG5 | c.457G>A (p.Asp153Asn) c.631G>A (p.Asp211Asn) c.568G>A (p.Asp190Asn) n.933G>A c.664G>A (p.Asp222Asn) c.754G>A (p.Asp252Asn) c.*669G>A (n.*669G>A) c.*285G>A (n.*285G>A) c.688G>A (p.Asp230Asn) c.625G>A (p.Asp209Asn) c.694G>A (p.Asp232Asn) | |
| 1 | g.6474148T>A | CA415834014 | PLEKHG5 | c.456A>T (p.Gly152=) c.630A>T (p.Gly210=) c.567A>T (p.Gly189=) n.932A>T c.663A>T (p.Gly221=) c.753A>T (p.Gly251=) c.*668A>T (n.*668A>T) c.*284A>T (n.*284A>T) c.687A>T (p.Gly229=) c.624A>T (p.Gly208=) c.693A>T (p.Gly231=) | |
| 1 | g.6474148T>C | CA17243340 | PLEKHG5 | c.456A>G (p.Gly152=) c.630A>G (p.Gly210=) c.567A>G (p.Gly189=) n.932A>G c.663A>G (p.Gly221=) c.753A>G (p.Gly251=) c.*668A>G (n.*668A>G) c.*284A>G (n.*284A>G) c.687A>G (p.Gly229=) c.624A>G (p.Gly208=) c.693A>G (p.Gly231=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6474148T>G | CA415834015 | PLEKHG5 | c.456A>C (p.Gly152=) c.630A>C (p.Gly210=) c.567A>C (p.Gly189=) n.932A>C c.663A>C (p.Gly221=) c.753A>C (p.Gly251=) c.*668A>C (n.*668A>C) c.*284A>C (n.*284A>C) c.687A>C (p.Gly229=) c.624A>C (p.Gly208=) c.693A>C (p.Gly231=) | |
| 1 | g.6474148T= | CA1151506103 | PLEKHG5 | c.456A= (p.Gly152=) c.630A= (p.Gly210=) c.567A= (p.Gly189=) n.932A= c.663A= (p.Gly221=) c.753A= (p.Gly251=) c.*668A= (n.*668A=) c.*284A= (n.*284A=) c.687A= (p.Gly229=) c.624A= (p.Gly208=) c.693A= (p.Gly231=) | |
| 1 | g.6474149C>A | CA338138904 | PLEKHG5 | c.455G>T (p.Gly152Val) c.629G>T (p.Gly210Val) c.566G>T (p.Gly189Val) n.931G>T c.662G>T (p.Gly221Val) c.752G>T (p.Gly251Val) c.*667G>T (n.*667G>T) c.*283G>T (n.*283G>T) c.686G>T (p.Gly229Val) c.623G>T (p.Gly208Val) c.692G>T (p.Gly231Val) | |
| 1 | g.6474149C>G | CA338138907 | PLEKHG5 | c.455G>C (p.Gly152Ala) c.629G>C (p.Gly210Ala) c.566G>C (p.Gly189Ala) n.931G>C c.662G>C (p.Gly221Ala) c.752G>C (p.Gly251Ala) c.*667G>C (n.*667G>C) c.*283G>C (n.*283G>C) c.686G>C (p.Gly229Ala) c.623G>C (p.Gly208Ala) c.692G>C (p.Gly231Ala) | |
| 1 | g.6474149C>T | CA338138906 | PLEKHG5 | c.455G>A (p.Gly152Glu) c.629G>A (p.Gly210Glu) c.566G>A (p.Gly189Glu) n.931G>A c.662G>A (p.Gly221Glu) c.752G>A (p.Gly251Glu) c.*667G>A (n.*667G>A) c.*283G>A (n.*283G>A) c.686G>A (p.Gly229Glu) c.623G>A (p.Gly208Glu) c.692G>A (p.Gly231Glu) | |
| 1 | g.6474150C>A | CA338138909 | PLEKHG5 | c.454G>T (p.Gly152Ter) c.628G>T (p.Gly210Ter) c.565G>T (p.Gly189Ter) n.930G>T c.661G>T (p.Gly221Ter) c.751G>T (p.Gly251Ter) c.*666G>T (n.*666G>T) c.*282G>T (n.*282G>T) c.685G>T (p.Gly229Ter) c.622G>T (p.Gly208Ter) c.691G>T (p.Gly231Ter) | |
| 1 | g.6474150C>G | CA338138911 | PLEKHG5 | c.454G>C (p.Gly152Arg) c.628G>C (p.Gly210Arg) c.565G>C (p.Gly189Arg) n.930G>C c.661G>C (p.Gly221Arg) c.751G>C (p.Gly251Arg) c.*666G>C (n.*666G>C) c.*282G>C (n.*282G>C) c.685G>C (p.Gly229Arg) c.622G>C (p.Gly208Arg) c.691G>C (p.Gly231Arg) | |
| 1 | g.6474150C>T | CA338138913 | PLEKHG5 | c.454G>A (p.Gly152Arg) c.628G>A (p.Gly210Arg) c.565G>A (p.Gly189Arg) n.930G>A c.661G>A (p.Gly221Arg) c.751G>A (p.Gly251Arg) c.*666G>A (n.*666G>A) c.*282G>A (n.*282G>A) c.685G>A (p.Gly229Arg) c.622G>A (p.Gly208Arg) c.691G>A (p.Gly231Arg) | ClinVar gnomAD v4 |
| 1 | g.6474151A>C | CA415834019 | PLEKHG5 | c.453T>G (p.Pro151=) c.627T>G (p.Pro209=) c.564T>G (p.Pro188=) n.929T>G c.660T>G (p.Pro220=) c.750T>G (p.Pro250=) c.*665T>G (n.*665T>G) c.*281T>G (n.*281T>G) c.684T>G (p.Pro228=) c.621T>G (p.Pro207=) c.690T>G (p.Pro230=) | |
| 1 | g.6474151A>G | CA415834021 | PLEKHG5 | c.453T>C (p.Pro151=) c.627T>C (p.Pro209=) c.564T>C (p.Pro188=) n.929T>C c.660T>C (p.Pro220=) c.750T>C (p.Pro250=) c.*665T>C (n.*665T>C) c.*281T>C (n.*281T>C) c.684T>C (p.Pro228=) c.621T>C (p.Pro207=) c.690T>C (p.Pro230=) | |
| 1 | g.6474151A>T | CA415834022 | PLEKHG5 | c.453T>A (p.Pro151=) c.627T>A (p.Pro209=) c.564T>A (p.Pro188=) n.929T>A c.660T>A (p.Pro220=) c.750T>A (p.Pro250=) c.*665T>A (n.*665T>A) c.*281T>A (n.*281T>A) c.684T>A (p.Pro228=) c.621T>A (p.Pro207=) c.690T>A (p.Pro230=) | |
| 1 | g.6474152G>A | CA338138915 | PLEKHG5 | c.452C>T (p.Pro151Leu) c.626C>T (p.Pro209Leu) c.563C>T (p.Pro188Leu) n.928C>T c.659C>T (p.Pro220Leu) c.749C>T (p.Pro250Leu) c.*664C>T (n.*664C>T) c.*280C>T (n.*280C>T) c.683C>T (p.Pro228Leu) c.620C>T (p.Pro207Leu) c.689C>T (p.Pro230Leu) | |
| 1 | g.6474152G>C | CA338138917 | PLEKHG5 | c.452C>G (p.Pro151Arg) c.626C>G (p.Pro209Arg) c.563C>G (p.Pro188Arg) n.928C>G c.659C>G (p.Pro220Arg) c.749C>G (p.Pro250Arg) c.*664C>G (n.*664C>G) c.*280C>G (n.*280C>G) c.683C>G (p.Pro228Arg) c.620C>G (p.Pro207Arg) c.689C>G (p.Pro230Arg) | |
| 1 | g.6474152G>T | CA338138919 | PLEKHG5 | c.452C>A (p.Pro151His) c.626C>A (p.Pro209His) c.563C>A (p.Pro188His) n.928C>A c.659C>A (p.Pro220His) c.749C>A (p.Pro250His) c.*664C>A (n.*664C>A) c.*280C>A (n.*280C>A) c.683C>A (p.Pro228His) c.620C>A (p.Pro207His) c.689C>A (p.Pro230His) | |
| 1 | g.6474156_6474160dup | CA2642977635 | PLEKHG5 | c.448_452dup (p.Gly152SerfsTer12) c.622_626dup (p.Gly210SerfsTer12) c.559_563dup (p.Gly189SerfsTer12) n.924_928dup c.655_659dup (p.Gly221SerfsTer12) c.745_749dup (p.Gly251SerfsTer12) c.*660_*664dup (n.*660_*664dup) c.*276_*280dup (n.*276_*280dup) c.679_683dup (p.Gly229SerfsTer12) c.616_620dup (p.Gly208SerfsTer12) c.685_689dup (p.Gly231SerfsTer12) | gnomAD v4 |
| 1 | g.6474153G>A | CA561840 | PLEKHG5 | c.451C>T (p.Pro151Ser) c.625C>T (p.Pro209Ser) c.562C>T (p.Pro188Ser) n.927C>T c.658C>T (p.Pro220Ser) c.748C>T (p.Pro250Ser) c.*663C>T (n.*663C>T) c.*279C>T (n.*279C>T) c.682C>T (p.Pro228Ser) c.619C>T (p.Pro207Ser) c.688C>T (p.Pro230Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6474153G>C | CA338138922 | PLEKHG5 | c.451C>G (p.Pro151Ala) c.625C>G (p.Pro209Ala) c.562C>G (p.Pro188Ala) n.927C>G c.658C>G (p.Pro220Ala) c.748C>G (p.Pro250Ala) c.*663C>G (n.*663C>G) c.*279C>G (n.*279C>G) c.682C>G (p.Pro228Ala) c.619C>G (p.Pro207Ala) c.688C>G (p.Pro230Ala) | |
| 1 | g.6474153G= | CA1149110544 | PLEKHG5 | c.451C= (p.Pro151=) c.625C= (p.Pro209=) c.562C= (p.Pro188=) n.927C= c.658C= (p.Pro220=) c.748C= (p.Pro250=) c.*663C= (n.*663C=) c.*279C= (n.*279C=) c.682C= (p.Pro228=) c.619C= (p.Pro207=) c.688C= (p.Pro230=) | |
| 1 | g.6474153G>T | CA338138924 | PLEKHG5 | c.451C>A (p.Pro151Thr) c.625C>A (p.Pro209Thr) c.562C>A (p.Pro188Thr) n.927C>A c.658C>A (p.Pro220Thr) c.748C>A (p.Pro250Thr) c.*663C>A (n.*663C>A) c.*279C>A (n.*279C>A) c.682C>A (p.Pro228Thr) c.619C>A (p.Pro207Thr) c.688C>A (p.Pro230Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474154C>A | CA338138925 | PLEKHG5 | c.450G>T (p.Lys150Asn) c.624G>T (p.Lys208Asn) c.561G>T (p.Lys187Asn) n.926G>T c.657G>T (p.Lys219Asn) c.747G>T (p.Lys249Asn) c.*662G>T (n.*662G>T) c.*278G>T (n.*278G>T) c.681G>T (p.Lys227Asn) c.618G>T (p.Lys206Asn) c.687G>T (p.Lys229Asn) | |
| 1 | g.6474154C>G | CA338138927 | PLEKHG5 | c.450G>C (p.Lys150Asn) c.624G>C (p.Lys208Asn) c.561G>C (p.Lys187Asn) n.926G>C c.657G>C (p.Lys219Asn) c.747G>C (p.Lys249Asn) c.*662G>C (n.*662G>C) c.*278G>C (n.*278G>C) c.681G>C (p.Lys227Asn) c.618G>C (p.Lys206Asn) c.687G>C (p.Lys229Asn) | |
| 1 | g.6474154C>T | CA415834023 | PLEKHG5 | c.450G>A (p.Lys150=) c.624G>A (p.Lys208=) c.561G>A (p.Lys187=) n.926G>A c.657G>A (p.Lys219=) c.747G>A (p.Lys249=) c.*662G>A (n.*662G>A) c.*278G>A (n.*278G>A) c.681G>A (p.Lys227=) c.618G>A (p.Lys206=) c.687G>A (p.Lys229=) | ClinVar gnomAD v4 |
| 1 | g.6474155T>A | CA338138932 | PLEKHG5 | c.449A>T (p.Lys150Met) c.623A>T (p.Lys208Met) c.560A>T (p.Lys187Met) n.925A>T c.656A>T (p.Lys219Met) c.746A>T (p.Lys249Met) c.*661A>T (n.*661A>T) c.*277A>T (n.*277A>T) c.680A>T (p.Lys227Met) c.617A>T (p.Lys206Met) c.686A>T (p.Lys229Met) | |
| 1 | g.6474155T>C | CA338138931 | PLEKHG5 | c.449A>G (p.Lys150Arg) c.623A>G (p.Lys208Arg) c.560A>G (p.Lys187Arg) n.925A>G c.656A>G (p.Lys219Arg) c.746A>G (p.Lys249Arg) c.*661A>G (n.*661A>G) c.*277A>G (n.*277A>G) c.680A>G (p.Lys227Arg) c.617A>G (p.Lys206Arg) c.686A>G (p.Lys229Arg) | gnomAD v4 |
| 1 | g.6474155T>G | CA338138929 | PLEKHG5 | c.449A>C (p.Lys150Thr) c.623A>C (p.Lys208Thr) c.560A>C (p.Lys187Thr) n.925A>C c.656A>C (p.Lys219Thr) c.746A>C (p.Lys249Thr) c.*661A>C (n.*661A>C) c.*277A>C (n.*277A>C) c.680A>C (p.Lys227Thr) c.617A>C (p.Lys206Thr) c.686A>C (p.Lys229Thr) | |
| 1 | g.6474156T>A | CA338138936 | PLEKHG5 | c.448A>T (p.Lys150Ter) c.622A>T (p.Lys208Ter) c.559A>T (p.Lys187Ter) n.924A>T c.655A>T (p.Lys219Ter) c.745A>T (p.Lys249Ter) c.*660A>T (n.*660A>T) c.*276A>T (n.*276A>T) c.679A>T (p.Lys227Ter) c.616A>T (p.Lys206Ter) c.685A>T (p.Lys229Ter) | |
| 1 | g.6474156T>C | CA338138934 | PLEKHG5 | c.448A>G (p.Lys150Glu) c.622A>G (p.Lys208Glu) c.559A>G (p.Lys187Glu) n.924A>G c.655A>G (p.Lys219Glu) c.745A>G (p.Lys249Glu) c.*660A>G (n.*660A>G) c.*276A>G (n.*276A>G) c.679A>G (p.Lys227Glu) c.616A>G (p.Lys206Glu) c.685A>G (p.Lys229Glu) | |
| 1 | g.6474156T>G | CA338138937 | PLEKHG5 | c.448A>C (p.Lys150Gln) c.622A>C (p.Lys208Gln) c.559A>C (p.Lys187Gln) n.924A>C c.655A>C (p.Lys219Gln) c.745A>C (p.Lys249Gln) c.*660A>C (n.*660A>C) c.*276A>C (n.*276A>C) c.679A>C (p.Lys227Gln) c.616A>C (p.Lys206Gln) c.685A>C (p.Lys229Gln) | |
| 1 | g.6474157G>A | CA415834024 | PLEKHG5 | c.447C>T (p.Ala149=) c.621C>T (p.Ala207=) c.558C>T (p.Ala186=) n.923C>T c.654C>T (p.Ala218=) c.744C>T (p.Ala248=) c.*659C>T (n.*659C>T) c.*275C>T (n.*275C>T) c.678C>T (p.Ala226=) c.615C>T (p.Ala205=) c.684C>T (p.Ala228=) | |
| 1 | g.6474157G>C | CA415834025 | PLEKHG5 | c.447C>G (p.Ala149=) c.621C>G (p.Ala207=) c.558C>G (p.Ala186=) n.923C>G c.654C>G (p.Ala218=) c.744C>G (p.Ala248=) c.*659C>G (n.*659C>G) c.*275C>G (n.*275C>G) c.678C>G (p.Ala226=) c.615C>G (p.Ala205=) c.684C>G (p.Ala228=) | gnomAD v4 |
| 1 | g.6474157G>T | CA415834026 | PLEKHG5 | c.447C>A (p.Ala149=) c.621C>A (p.Ala207=) c.558C>A (p.Ala186=) n.923C>A c.654C>A (p.Ala218=) c.744C>A (p.Ala248=) c.*659C>A (n.*659C>A) c.*275C>A (n.*275C>A) c.678C>A (p.Ala226=) c.615C>A (p.Ala205=) c.684C>A (p.Ala228=) | |
| 1 | g.6474158G>A | CA338138939 | PLEKHG5 | c.446C>T (p.Ala149Val) c.620C>T (p.Ala207Val) c.557C>T (p.Ala186Val) n.922C>T c.653C>T (p.Ala218Val) c.743C>T (p.Ala248Val) c.*658C>T (n.*658C>T) c.*274C>T (n.*274C>T) c.677C>T (p.Ala226Val) c.614C>T (p.Ala205Val) c.683C>T (p.Ala228Val) | |
| 1 | g.6474158G>C | CA338138941 | PLEKHG5 | c.446C>G (p.Ala149Gly) c.620C>G (p.Ala207Gly) c.557C>G (p.Ala186Gly) n.922C>G c.653C>G (p.Ala218Gly) c.743C>G (p.Ala248Gly) c.*658C>G (n.*658C>G) c.*274C>G (n.*274C>G) c.677C>G (p.Ala226Gly) c.614C>G (p.Ala205Gly) c.683C>G (p.Ala228Gly) |