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.6474140C>A | CA338138869 | PLEKHG5 | c.464G>T (p.Gly155Val) c.638G>T (p.Gly213Val) c.575G>T (p.Gly192Val) n.940G>T c.671G>T (p.Gly224Val) c.761G>T (p.Gly254Val) c.*676G>T (n.*676G>T) c.*292G>T (n.*292G>T) c.695G>T (p.Gly232Val) c.632G>T (p.Gly211Val) c.701G>T (p.Gly234Val) | |
| 1 | g.6474140C= | CA1151506084 | PLEKHG5 | c.464G= (p.Gly155=) c.638G= (p.Gly213=) c.575G= (p.Gly192=) n.940G= c.671G= (p.Gly224=) c.761G= (p.Gly254=) c.*676G= (n.*676G=) c.*292G= (n.*292G=) c.695G= (p.Gly232=) c.632G= (p.Gly211=) c.701G= (p.Gly234=) | |
| 1 | g.6474140C>G | CA338138871 | PLEKHG5 | c.464G>C (p.Gly155Ala) c.638G>C (p.Gly213Ala) c.575G>C (p.Gly192Ala) n.940G>C c.671G>C (p.Gly224Ala) c.761G>C (p.Gly254Ala) c.*676G>C (n.*676G>C) c.*292G>C (n.*292G>C) c.695G>C (p.Gly232Ala) c.632G>C (p.Gly211Ala) c.701G>C (p.Gly234Ala) | |
| 1 | g.6474140C>T | CA561838 | PLEKHG5 | c.464G>A (p.Gly155Asp) c.638G>A (p.Gly213Asp) c.575G>A (p.Gly192Asp) n.940G>A c.671G>A (p.Gly224Asp) c.761G>A (p.Gly254Asp) c.*676G>A (n.*676G>A) c.*292G>A (n.*292G>A) c.695G>A (p.Gly232Asp) c.632G>A (p.Gly211Asp) c.701G>A (p.Gly234Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6474141C>A | CA338138874 | PLEKHG5 | c.463G>T (p.Gly155Cys) c.637G>T (p.Gly213Cys) c.574G>T (p.Gly192Cys) n.939G>T c.670G>T (p.Gly224Cys) c.760G>T (p.Gly254Cys) c.*675G>T (n.*675G>T) c.*291G>T (n.*291G>T) c.694G>T (p.Gly232Cys) c.631G>T (p.Gly211Cys) c.700G>T (p.Gly234Cys) | |
| 1 | g.6474141C= | CA1151506090 | PLEKHG5 | c.463G= (p.Gly155=) c.637G= (p.Gly213=) c.574G= (p.Gly192=) n.939G= c.670G= (p.Gly224=) c.760G= (p.Gly254=) c.*675G= (n.*675G=) c.*291G= (n.*291G=) c.694G= (p.Gly232=) c.631G= (p.Gly211=) c.700G= (p.Gly234=) | |
| 1 | g.6474141C>G | CA338138875 | PLEKHG5 | c.463G>C (p.Gly155Arg) c.637G>C (p.Gly213Arg) c.574G>C (p.Gly192Arg) n.939G>C c.670G>C (p.Gly224Arg) c.760G>C (p.Gly254Arg) c.*675G>C (n.*675G>C) c.*291G>C (n.*291G>C) c.694G>C (p.Gly232Arg) c.631G>C (p.Gly211Arg) c.700G>C (p.Gly234Arg) | |
| 1 | g.6474141C>T | CA338138876 | PLEKHG5 | c.463G>A (p.Gly155Ser) c.637G>A (p.Gly213Ser) c.574G>A (p.Gly192Ser) n.939G>A c.670G>A (p.Gly224Ser) c.760G>A (p.Gly254Ser) c.*675G>A (n.*675G>A) c.*291G>A (n.*291G>A) c.694G>A (p.Gly232Ser) c.631G>A (p.Gly211Ser) c.700G>A (p.Gly234Ser) | dbSNP gnomAD v4 |
| 1 | g.6474142C>A | CA338138877 | PLEKHG5 | c.462G>T (p.Glu154Asp) c.636G>T (p.Glu212Asp) c.573G>T (p.Glu191Asp) n.938G>T c.669G>T (p.Glu223Asp) c.759G>T (p.Glu253Asp) c.*674G>T (n.*674G>T) c.*290G>T (n.*290G>T) c.693G>T (p.Glu231Asp) c.630G>T (p.Glu210Asp) c.699G>T (p.Glu233Asp) | gnomAD v4 |
| 1 | g.6474142C>G | CA338138879 | PLEKHG5 | c.462G>C (p.Glu154Asp) c.636G>C (p.Glu212Asp) c.573G>C (p.Glu191Asp) n.938G>C c.669G>C (p.Glu223Asp) c.759G>C (p.Glu253Asp) c.*674G>C (n.*674G>C) c.*290G>C (n.*290G>C) c.693G>C (p.Glu231Asp) c.630G>C (p.Glu210Asp) c.699G>C (p.Glu233Asp) | |
| 1 | g.6474142C>T | CA415834007 | PLEKHG5 | c.462G>A (p.Glu154=) c.636G>A (p.Glu212=) c.573G>A (p.Glu191=) n.938G>A c.669G>A (p.Glu223=) c.759G>A (p.Glu253=) c.*674G>A (n.*674G>A) c.*290G>A (n.*290G>A) c.693G>A (p.Glu231=) c.630G>A (p.Glu210=) c.699G>A (p.Glu233=) | gnomAD v4 |
| 1 | g.6474143T>A | CA338138881 | PLEKHG5 | c.461A>T (p.Glu154Val) c.635A>T (p.Glu212Val) c.572A>T (p.Glu191Val) n.937A>T c.668A>T (p.Glu223Val) c.758A>T (p.Glu253Val) c.*673A>T (n.*673A>T) c.*289A>T (n.*289A>T) c.692A>T (p.Glu231Val) c.629A>T (p.Glu210Val) c.698A>T (p.Glu233Val) | |
| 1 | g.6474143T>C | CA338138882 | PLEKHG5 | c.461A>G (p.Glu154Gly) c.635A>G (p.Glu212Gly) c.572A>G (p.Glu191Gly) n.937A>G c.668A>G (p.Glu223Gly) c.758A>G (p.Glu253Gly) c.*673A>G (n.*673A>G) c.*289A>G (n.*289A>G) c.692A>G (p.Glu231Gly) c.629A>G (p.Glu210Gly) c.698A>G (p.Glu233Gly) | |
| 1 | g.6474143T>G | CA338138883 | PLEKHG5 | c.461A>C (p.Glu154Ala) c.635A>C (p.Glu212Ala) c.572A>C (p.Glu191Ala) n.937A>C c.668A>C (p.Glu223Ala) c.758A>C (p.Glu253Ala) c.*673A>C (n.*673A>C) c.*289A>C (n.*289A>C) c.692A>C (p.Glu231Ala) c.629A>C (p.Glu210Ala) c.698A>C (p.Glu233Ala) | |
| 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 |