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.6474037_6474046del | CA2742323541 | PLEKHG5 | c.562_571del (p.Gln188GlyfsTer?) c.736_745del (p.Gln246GlyfsTer?) c.673_682del (p.Gln225GlyfsTer?) n.1038_1047del c.769_778del (p.Gln257GlyfsTer?) c.859_868del (p.Gln287GlyfsTer?) c.*774_*783del (n.*774_*783del) c.*390_*399del (n.*390_*399del) c.793_802del (p.Gln265GlyfsTer?) c.730_739del (p.Gln244GlyfsTer?) c.799_808del (p.Gln267GlyfsTer?) | |
| 1 | g.6474042G>A | CA338138476 | PLEKHG5 | c.562C>T (p.Gln188Ter) c.736C>T (p.Gln246Ter) c.673C>T (p.Gln225Ter) n.1038C>T c.769C>T (p.Gln257Ter) c.859C>T (p.Gln287Ter) c.*774C>T (n.*774C>T) c.*390C>T (n.*390C>T) c.793C>T (p.Gln265Ter) c.730C>T (p.Gln244Ter) c.799C>T (p.Gln267Ter) | |
| 1 | g.6474042G>C | CA338138478 | PLEKHG5 | c.562C>G (p.Gln188Glu) c.736C>G (p.Gln246Glu) c.673C>G (p.Gln225Glu) n.1038C>G c.769C>G (p.Gln257Glu) c.859C>G (p.Gln287Glu) c.*774C>G (n.*774C>G) c.*390C>G (n.*390C>G) c.793C>G (p.Gln265Glu) c.730C>G (p.Gln244Glu) c.799C>G (p.Gln267Glu) | |
| 1 | g.6474042G= | CA1151505737 | PLEKHG5 | c.562C= (p.Gln188=) c.736C= (p.Gln246=) c.673C= (p.Gln225=) n.1038C= c.769C= (p.Gln257=) c.859C= (p.Gln287=) c.*774C= (n.*774C=) c.*390C= (n.*390C=) c.793C= (p.Gln265=) c.730C= (p.Gln244=) c.799C= (p.Gln267=) | |
| 1 | g.6474042G>T | CA338138481 | PLEKHG5 | c.562C>A (p.Gln188Lys) c.736C>A (p.Gln246Lys) c.673C>A (p.Gln225Lys) n.1038C>A c.769C>A (p.Gln257Lys) c.859C>A (p.Gln287Lys) c.*774C>A (n.*774C>A) c.*390C>A (n.*390C>A) c.793C>A (p.Gln265Lys) c.730C>A (p.Gln244Lys) c.799C>A (p.Gln267Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474044dup | CA2642977439 | PLEKHG5 | c.562dup (p.Gln188ProfsTer?) c.736dup (p.Gln246ProfsTer?) c.673dup (p.Gln225ProfsTer?) n.1038dup c.769dup (p.Gln257ProfsTer?) c.859dup (p.Gln287ProfsTer?) c.*774dup (n.*774dup) c.*390dup (n.*390dup) c.793dup (p.Gln265ProfsTer?) c.730dup (p.Gln244ProfsTer?) c.799dup (p.Gln267ProfsTer?) | gnomAD v4 |
| 1 | g.6474043G>A | CA415833911 | PLEKHG5 | c.561C>T (p.Ala187=) c.735C>T (p.Ala245=) c.672C>T (p.Ala224=) n.1037C>T c.768C>T (p.Ala256=) c.858C>T (p.Ala286=) c.*773C>T (n.*773C>T) c.*389C>T (n.*389C>T) c.792C>T (p.Ala264=) c.729C>T (p.Ala243=) c.798C>T (p.Ala266=) | |
| 1 | g.6474043G>C | CA415833909 | PLEKHG5 | c.561C>G (p.Ala187=) c.735C>G (p.Ala245=) c.672C>G (p.Ala224=) n.1037C>G c.768C>G (p.Ala256=) c.858C>G (p.Ala286=) c.*773C>G (n.*773C>G) c.*389C>G (n.*389C>G) c.792C>G (p.Ala264=) c.729C>G (p.Ala243=) c.798C>G (p.Ala266=) | |
| 1 | g.6474043G>T | CA415833910 | PLEKHG5 | c.561C>A (p.Ala187=) c.735C>A (p.Ala245=) c.672C>A (p.Ala224=) n.1037C>A c.768C>A (p.Ala256=) c.858C>A (p.Ala286=) c.*773C>A (n.*773C>A) c.*389C>A (n.*389C>A) c.792C>A (p.Ala264=) c.729C>A (p.Ala243=) c.798C>A (p.Ala266=) | gnomAD v4 |
| 1 | g.6474044G>A | CA338138487 | PLEKHG5 | c.560C>T (p.Ala187Val) c.734C>T (p.Ala245Val) c.671C>T (p.Ala224Val) n.1036C>T c.767C>T (p.Ala256Val) c.857C>T (p.Ala286Val) c.*772C>T (n.*772C>T) c.*388C>T (n.*388C>T) c.791C>T (p.Ala264Val) c.728C>T (p.Ala243Val) c.797C>T (p.Ala266Val) | ClinVar |
| 1 | g.6474044G>C | CA338138490 | PLEKHG5 | c.560C>G (p.Ala187Gly) c.734C>G (p.Ala245Gly) c.671C>G (p.Ala224Gly) n.1036C>G c.767C>G (p.Ala256Gly) c.857C>G (p.Ala286Gly) c.*772C>G (n.*772C>G) c.*388C>G (n.*388C>G) c.791C>G (p.Ala264Gly) c.728C>G (p.Ala243Gly) c.797C>G (p.Ala266Gly) | gnomAD v4 |
| 1 | g.6474044G>T | CA338138484 | PLEKHG5 | c.560C>A (p.Ala187Asp) c.734C>A (p.Ala245Asp) c.671C>A (p.Ala224Asp) n.1036C>A c.767C>A (p.Ala256Asp) c.857C>A (p.Ala286Asp) c.*772C>A (n.*772C>A) c.*388C>A (n.*388C>A) c.791C>A (p.Ala264Asp) c.728C>A (p.Ala243Asp) c.797C>A (p.Ala266Asp) | |
| 1 | g.6474045C>A | CA17243075 | PLEKHG5 | c.559G>T (p.Ala187Ser) c.733G>T (p.Ala245Ser) c.670G>T (p.Ala224Ser) n.1035G>T c.766G>T (p.Ala256Ser) c.856G>T (p.Ala286Ser) c.*771G>T (n.*771G>T) c.*387G>T (n.*387G>T) c.790G>T (p.Ala264Ser) c.727G>T (p.Ala243Ser) c.796G>T (p.Ala266Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474045C= | CA1143355996 | PLEKHG5 | c.559G= (p.Ala187=) c.733G= (p.Ala245=) c.670G= (p.Ala224=) n.1035G= c.766G= (p.Ala256=) c.856G= (p.Ala286=) c.*771G= (n.*771G=) c.*387G= (n.*387G=) c.790G= (p.Ala264=) c.727G= (p.Ala243=) c.796G= (p.Ala266=) | |
| 1 | g.6474045C>G | CA561810 | PLEKHG5 | c.559G>C (p.Ala187Pro) c.733G>C (p.Ala245Pro) c.670G>C (p.Ala224Pro) n.1035G>C c.766G>C (p.Ala256Pro) c.856G>C (p.Ala286Pro) c.*771G>C (n.*771G>C) c.*387G>C (n.*387G>C) c.790G>C (p.Ala264Pro) c.727G>C (p.Ala243Pro) c.796G>C (p.Ala266Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474045C>T | CA561809 | PLEKHG5 | c.559G>A (p.Ala187Thr) c.733G>A (p.Ala245Thr) c.670G>A (p.Ala224Thr) n.1035G>A c.766G>A (p.Ala256Thr) c.856G>A (p.Ala286Thr) c.*771G>A (n.*771G>A) c.*387G>A (n.*387G>A) c.790G>A (p.Ala264Thr) c.727G>A (p.Ala243Thr) c.796G>A (p.Ala266Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474046G>A | CA561811 | PLEKHG5 | c.558C>T (p.Asp186=) c.732C>T (p.Asp244=) c.669C>T (p.Asp223=) n.1034C>T c.765C>T (p.Asp255=) c.855C>T (p.Asp285=) c.*770C>T (n.*770C>T) c.*386C>T (n.*386C>T) c.789C>T (p.Asp263=) c.726C>T (p.Asp242=) c.795C>T (p.Asp265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474046G>C | CA338138493 | PLEKHG5 | c.558C>G (p.Asp186Glu) c.732C>G (p.Asp244Glu) c.669C>G (p.Asp223Glu) n.1034C>G c.765C>G (p.Asp255Glu) c.855C>G (p.Asp285Glu) c.*770C>G (n.*770C>G) c.*386C>G (n.*386C>G) c.789C>G (p.Asp263Glu) c.726C>G (p.Asp242Glu) c.795C>G (p.Asp265Glu) | |
| 1 | g.6474046G= | CA1151505750 | PLEKHG5 | c.558C= (p.Asp186=) c.732C= (p.Asp244=) c.669C= (p.Asp223=) n.1034C= c.765C= (p.Asp255=) c.855C= (p.Asp285=) c.*770C= (n.*770C=) c.*386C= (n.*386C=) c.789C= (p.Asp263=) c.726C= (p.Asp242=) c.795C= (p.Asp265=) | |
| 1 | g.6474046G>T | CA338138495 | PLEKHG5 | c.558C>A (p.Asp186Glu) c.732C>A (p.Asp244Glu) c.669C>A (p.Asp223Glu) n.1034C>A c.765C>A (p.Asp255Glu) c.855C>A (p.Asp285Glu) c.*770C>A (n.*770C>A) c.*386C>A (n.*386C>A) c.789C>A (p.Asp263Glu) c.726C>A (p.Asp242Glu) c.795C>A (p.Asp265Glu) | |
| 1 | g.6474047T>A | CA338138502 | PLEKHG5 | c.557A>T (p.Asp186Val) c.731A>T (p.Asp244Val) c.668A>T (p.Asp223Val) n.1033A>T c.764A>T (p.Asp255Val) c.854A>T (p.Asp285Val) c.*769A>T (n.*769A>T) c.*385A>T (n.*385A>T) c.788A>T (p.Asp263Val) c.725A>T (p.Asp242Val) c.794A>T (p.Asp265Val) | |
| 1 | g.6474047T>C | CA338138500 | PLEKHG5 | c.557A>G (p.Asp186Gly) c.731A>G (p.Asp244Gly) c.668A>G (p.Asp223Gly) n.1033A>G c.764A>G (p.Asp255Gly) c.854A>G (p.Asp285Gly) c.*769A>G (n.*769A>G) c.*385A>G (n.*385A>G) c.788A>G (p.Asp263Gly) c.725A>G (p.Asp242Gly) c.794A>G (p.Asp265Gly) | |
| 1 | g.6474047T>G | CA338138499 | PLEKHG5 | c.557A>C (p.Asp186Ala) c.731A>C (p.Asp244Ala) c.668A>C (p.Asp223Ala) n.1033A>C c.764A>C (p.Asp255Ala) c.854A>C (p.Asp285Ala) c.*769A>C (n.*769A>C) c.*385A>C (n.*385A>C) c.788A>C (p.Asp263Ala) c.725A>C (p.Asp242Ala) c.794A>C (p.Asp265Ala) | |
| 1 | g.6474048C>A | CA338138504 | PLEKHG5 | c.556G>T (p.Asp186Tyr) c.730G>T (p.Asp244Tyr) c.667G>T (p.Asp223Tyr) n.1032G>T c.763G>T (p.Asp255Tyr) c.853G>T (p.Asp285Tyr) c.*768G>T (n.*768G>T) c.*384G>T (n.*384G>T) c.787G>T (p.Asp263Tyr) c.724G>T (p.Asp242Tyr) c.793G>T (p.Asp265Tyr) | |
| 1 | g.6474048C>G | CA338138507 | PLEKHG5 | c.556G>C (p.Asp186His) c.730G>C (p.Asp244His) c.667G>C (p.Asp223His) n.1032G>C c.763G>C (p.Asp255His) c.853G>C (p.Asp285His) c.*768G>C (n.*768G>C) c.*384G>C (n.*384G>C) c.787G>C (p.Asp263His) c.724G>C (p.Asp242His) c.793G>C (p.Asp265His) | |
| 1 | g.6474048C>T | CA338138510 | PLEKHG5 | c.556G>A (p.Asp186Asn) c.730G>A (p.Asp244Asn) c.667G>A (p.Asp223Asn) n.1032G>A c.763G>A (p.Asp255Asn) c.853G>A (p.Asp285Asn) c.*768G>A (n.*768G>A) c.*384G>A (n.*384G>A) c.787G>A (p.Asp263Asn) c.724G>A (p.Asp242Asn) c.793G>A (p.Asp265Asn) | gnomAD v4 |
| 1 | g.6474049C>A | CA415833915 | PLEKHG5 | c.555G>T (p.Val185=) c.729G>T (p.Val243=) c.666G>T (p.Val222=) n.1031G>T c.762G>T (p.Val254=) c.852G>T (p.Val284=) c.*767G>T (n.*767G>T) c.*383G>T (n.*383G>T) c.786G>T (p.Val262=) c.723G>T (p.Val241=) c.792G>T (p.Val264=) | |
| 1 | g.6474049C>G | CA415833913 | PLEKHG5 | c.555G>C (p.Val185=) c.729G>C (p.Val243=) c.666G>C (p.Val222=) n.1031G>C c.762G>C (p.Val254=) c.852G>C (p.Val284=) c.*767G>C (n.*767G>C) c.*383G>C (n.*383G>C) c.786G>C (p.Val262=) c.723G>C (p.Val241=) c.792G>C (p.Val264=) | |
| 1 | g.6474049C>T | CA415833914 | PLEKHG5 | c.555G>A (p.Val185=) c.729G>A (p.Val243=) c.666G>A (p.Val222=) n.1031G>A c.762G>A (p.Val254=) c.852G>A (p.Val284=) c.*767G>A (n.*767G>A) c.*383G>A (n.*383G>A) c.786G>A (p.Val262=) c.723G>A (p.Val241=) c.792G>A (p.Val264=) | |
| 1 | g.6474052_6474053del | CA2642977451 | PLEKHG5 | c.554_555del (p.Val185GlyfsTer?) c.728_729del (p.Val243GlyfsTer?) c.665_666del (p.Val222GlyfsTer?) n.1030_1031del c.761_762del (p.Val254GlyfsTer?) c.851_852del (p.Val284GlyfsTer?) c.*766_*767del (n.*766_*767del) c.*382_*383del (n.*382_*383del) c.785_786del (p.Val262GlyfsTer?) c.722_723del (p.Val241GlyfsTer?) c.791_792del (p.Val264GlyfsTer?) | gnomAD v4 |
| 1 | g.6474050A>C | CA338138512 | PLEKHG5 | c.554T>G (p.Val185Gly) c.728T>G (p.Val243Gly) c.665T>G (p.Val222Gly) n.1030T>G c.761T>G (p.Val254Gly) c.851T>G (p.Val284Gly) c.*766T>G (n.*766T>G) c.*382T>G (n.*382T>G) c.785T>G (p.Val262Gly) c.722T>G (p.Val241Gly) c.791T>G (p.Val264Gly) | |
| 1 | g.6474050A>G | CA338138514 | PLEKHG5 | c.554T>C (p.Val185Ala) c.728T>C (p.Val243Ala) c.665T>C (p.Val222Ala) n.1030T>C c.761T>C (p.Val254Ala) c.851T>C (p.Val284Ala) c.*766T>C (n.*766T>C) c.*382T>C (n.*382T>C) c.785T>C (p.Val262Ala) c.722T>C (p.Val241Ala) c.791T>C (p.Val264Ala) | |
| 1 | g.6474050A>T | CA338138516 | PLEKHG5 | c.554T>A (p.Val185Glu) c.728T>A (p.Val243Glu) c.665T>A (p.Val222Glu) n.1030T>A c.761T>A (p.Val254Glu) c.851T>A (p.Val284Glu) c.*766T>A (n.*766T>A) c.*382T>A (n.*382T>A) c.785T>A (p.Val262Glu) c.722T>A (p.Val241Glu) c.791T>A (p.Val264Glu) | |
| 1 | g.6474051C>A | CA338138519 | PLEKHG5 | c.553G>T (p.Val185Leu) c.727G>T (p.Val243Leu) c.664G>T (p.Val222Leu) n.1029G>T c.760G>T (p.Val254Leu) c.850G>T (p.Val284Leu) c.*765G>T (n.*765G>T) c.*381G>T (n.*381G>T) c.784G>T (p.Val262Leu) c.721G>T (p.Val241Leu) c.790G>T (p.Val264Leu) | gnomAD v4 |
| 1 | g.6474051C>G | CA338138524 | PLEKHG5 | c.553G>C (p.Val185Leu) c.727G>C (p.Val243Leu) c.664G>C (p.Val222Leu) n.1029G>C c.760G>C (p.Val254Leu) c.850G>C (p.Val284Leu) c.*765G>C (n.*765G>C) c.*381G>C (n.*381G>C) c.784G>C (p.Val262Leu) c.721G>C (p.Val241Leu) c.790G>C (p.Val264Leu) | |
| 1 | g.6474051C>T | CA338138522 | PLEKHG5 | c.553G>A (p.Val185Met) c.727G>A (p.Val243Met) c.664G>A (p.Val222Met) n.1029G>A c.760G>A (p.Val254Met) c.850G>A (p.Val284Met) c.*765G>A (n.*765G>A) c.*381G>A (n.*381G>A) c.784G>A (p.Val262Met) c.721G>A (p.Val241Met) c.790G>A (p.Val264Met) | |
| 1 | g.6474052A= | CA1151505753 | PLEKHG5 | c.552T= (p.Arg184=) c.726T= (p.Arg242=) c.663T= (p.Arg221=) n.1028T= c.759T= (p.Arg253=) c.849T= (p.Arg283=) c.*764T= (n.*764T=) c.*380T= (n.*380T=) c.783T= (p.Arg261=) c.720T= (p.Arg240=) c.789T= (p.Arg263=) | |
| 1 | g.6474052A>C | CA415833916 | PLEKHG5 | c.552T>G (p.Arg184=) c.726T>G (p.Arg242=) c.663T>G (p.Arg221=) n.1028T>G c.759T>G (p.Arg253=) c.849T>G (p.Arg283=) c.*764T>G (n.*764T>G) c.*380T>G (n.*380T>G) c.783T>G (p.Arg261=) c.720T>G (p.Arg240=) c.789T>G (p.Arg263=) | ClinVar dbSNP |
| 1 | g.6474052A>G | CA415833917 | PLEKHG5 | c.552T>C (p.Arg184=) c.726T>C (p.Arg242=) c.663T>C (p.Arg221=) n.1028T>C c.759T>C (p.Arg253=) c.849T>C (p.Arg283=) c.*764T>C (n.*764T>C) c.*380T>C (n.*380T>C) c.783T>C (p.Arg261=) c.720T>C (p.Arg240=) c.789T>C (p.Arg263=) | |
| 1 | g.6474052A>T | CA415833918 | PLEKHG5 | c.552T>A (p.Arg184=) c.726T>A (p.Arg242=) c.663T>A (p.Arg221=) n.1028T>A c.759T>A (p.Arg253=) c.849T>A (p.Arg283=) c.*764T>A (n.*764T>A) c.*380T>A (n.*380T>A) c.783T>A (p.Arg261=) c.720T>A (p.Arg240=) c.789T>A (p.Arg263=) | |
| 1 | g.6474053C>A | CA338138526 | PLEKHG5 | c.551G>T (p.Arg184Leu) c.725G>T (p.Arg242Leu) c.662G>T (p.Arg221Leu) n.1027G>T c.758G>T (p.Arg253Leu) c.848G>T (p.Arg283Leu) c.*763G>T (n.*763G>T) c.*379G>T (n.*379G>T) c.782G>T (p.Arg261Leu) c.719G>T (p.Arg240Leu) c.788G>T (p.Arg263Leu) | gnomAD v4 |
| 1 | g.6474053C= | CA1151505755 | PLEKHG5 | c.551G= (p.Arg184=) c.725G= (p.Arg242=) c.662G= (p.Arg221=) n.1027G= c.758G= (p.Arg253=) c.848G= (p.Arg283=) c.*763G= (n.*763G=) c.*379G= (n.*379G=) c.782G= (p.Arg261=) c.719G= (p.Arg240=) c.788G= (p.Arg263=) | |
| 1 | g.6474053C>G | CA338138528 | PLEKHG5 | c.551G>C (p.Arg184Pro) c.725G>C (p.Arg242Pro) c.662G>C (p.Arg221Pro) n.1027G>C c.758G>C (p.Arg253Pro) c.848G>C (p.Arg283Pro) c.*763G>C (n.*763G>C) c.*379G>C (n.*379G>C) c.782G>C (p.Arg261Pro) c.719G>C (p.Arg240Pro) c.788G>C (p.Arg263Pro) | |
| 1 | g.6474053C>T | CA561812 | PLEKHG5 | c.551G>A (p.Arg184His) c.725G>A (p.Arg242His) c.662G>A (p.Arg221His) n.1027G>A c.758G>A (p.Arg253His) c.848G>A (p.Arg283His) c.*763G>A (n.*763G>A) c.*379G>A (n.*379G>A) c.782G>A (p.Arg261His) c.719G>A (p.Arg240His) c.788G>A (p.Arg263His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6474054G>A | CA561813 | PLEKHG5 | c.550C>T (p.Arg184Cys) c.724C>T (p.Arg242Cys) c.661C>T (p.Arg221Cys) n.1026C>T c.757C>T (p.Arg253Cys) c.847C>T (p.Arg283Cys) c.*762C>T (n.*762C>T) c.*378C>T (n.*378C>T) c.781C>T (p.Arg261Cys) c.718C>T (p.Arg240Cys) c.787C>T (p.Arg263Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474054G>C | CA338138534 | PLEKHG5 | c.550C>G (p.Arg184Gly) c.724C>G (p.Arg242Gly) c.661C>G (p.Arg221Gly) n.1026C>G c.757C>G (p.Arg253Gly) c.847C>G (p.Arg283Gly) c.*762C>G (n.*762C>G) c.*378C>G (n.*378C>G) c.781C>G (p.Arg261Gly) c.718C>G (p.Arg240Gly) c.787C>G (p.Arg263Gly) | |
| 1 | g.6474054G= | CA1151505760 | PLEKHG5 | c.550C= (p.Arg184=) c.724C= (p.Arg242=) c.661C= (p.Arg221=) n.1026C= c.757C= (p.Arg253=) c.847C= (p.Arg283=) c.*762C= (n.*762C=) c.*378C= (n.*378C=) c.781C= (p.Arg261=) c.718C= (p.Arg240=) c.787C= (p.Arg263=) | |
| 1 | g.6474054G>T | CA338138537 | PLEKHG5 | c.550C>A (p.Arg184Ser) c.724C>A (p.Arg242Ser) c.661C>A (p.Arg221Ser) n.1026C>A c.757C>A (p.Arg253Ser) c.847C>A (p.Arg283Ser) c.*762C>A (n.*762C>A) c.*378C>A (n.*378C>A) c.781C>A (p.Arg261Ser) c.718C>A (p.Arg240Ser) c.787C>A (p.Arg263Ser) | |
| 1 | g.6474055C>A | CA338138539 | PLEKHG5 | c.549G>T (p.Glu183Asp) c.723G>T (p.Glu241Asp) c.660G>T (p.Glu220Asp) n.1025G>T c.756G>T (p.Glu252Asp) c.846G>T (p.Glu282Asp) c.*761G>T (n.*761G>T) c.*377G>T (n.*377G>T) c.780G>T (p.Glu260Asp) c.717G>T (p.Glu239Asp) c.786G>T (p.Glu262Asp) | |
| 1 | g.6474055C>G | CA338138542 | PLEKHG5 | c.549G>C (p.Glu183Asp) c.723G>C (p.Glu241Asp) c.660G>C (p.Glu220Asp) n.1025G>C c.756G>C (p.Glu252Asp) c.846G>C (p.Glu282Asp) c.*761G>C (n.*761G>C) c.*377G>C (n.*377G>C) c.780G>C (p.Glu260Asp) c.717G>C (p.Glu239Asp) c.786G>C (p.Glu262Asp) |