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.6474036_6474038del | CA521018914 | PLEKHG5 | c.570_572del (p.Arg191del) c.744_746del (p.Arg249del) c.681_683del (p.Arg228del) n.1046_1048del c.777_779del (p.Arg260del) c.867_869del (p.Arg290del) c.*782_*784del (n.*782_*784del) c.*398_*400del (n.*398_*400del) c.801_803del (p.Arg268del) c.738_740del (p.Arg247del) c.807_809del (p.Arg270del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 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.6474036G>A | CA561807 | PLEKHG5 | c.568C>T (p.Arg190Cys) c.742C>T (p.Arg248Cys) c.679C>T (p.Arg227Cys) n.1044C>T c.775C>T (p.Arg259Cys) c.865C>T (p.Arg289Cys) c.*780C>T (n.*780C>T) c.*396C>T (n.*396C>T) c.799C>T (p.Arg267Cys) c.736C>T (p.Arg246Cys) c.805C>T (p.Arg269Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6474036G>C | CA338138431 | PLEKHG5 | c.568C>G (p.Arg190Gly) c.742C>G (p.Arg248Gly) c.679C>G (p.Arg227Gly) n.1044C>G c.775C>G (p.Arg259Gly) c.865C>G (p.Arg289Gly) c.*780C>G (n.*780C>G) c.*396C>G (n.*396C>G) c.799C>G (p.Arg267Gly) c.736C>G (p.Arg246Gly) c.805C>G (p.Arg269Gly) | |
| 1 | g.6474036G= | CA1151505714 | PLEKHG5 | c.568C= (p.Arg190=) c.742C= (p.Arg248=) c.679C= (p.Arg227=) n.1044C= c.775C= (p.Arg259=) c.865C= (p.Arg289=) c.*780C= (n.*780C=) c.*396C= (n.*396C=) c.799C= (p.Arg267=) c.736C= (p.Arg246=) c.805C= (p.Arg269=) | |
| 1 | g.6474036G>T | CA338138434 | PLEKHG5 | c.568C>A (p.Arg190Ser) c.742C>A (p.Arg248Ser) c.679C>A (p.Arg227Ser) n.1044C>A c.775C>A (p.Arg259Ser) c.865C>A (p.Arg289Ser) c.*780C>A (n.*780C>A) c.*396C>A (n.*396C>A) c.799C>A (p.Arg267Ser) c.736C>A (p.Arg246Ser) c.805C>A (p.Arg269Ser) | |
| 1 | g.6474037G>A | CA561808 | PLEKHG5 | c.567C>T (p.Ser189=) c.741C>T (p.Ser247=) c.678C>T (p.Ser226=) n.1043C>T c.774C>T (p.Ser258=) c.864C>T (p.Ser288=) c.*779C>T (n.*779C>T) c.*395C>T (n.*395C>T) c.798C>T (p.Ser266=) c.735C>T (p.Ser245=) c.804C>T (p.Ser268=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474037G>C | CA338138439 | PLEKHG5 | c.567C>G (p.Ser189Arg) c.741C>G (p.Ser247Arg) c.678C>G (p.Ser226Arg) n.1043C>G c.774C>G (p.Ser258Arg) c.864C>G (p.Ser288Arg) c.*779C>G (n.*779C>G) c.*395C>G (n.*395C>G) c.798C>G (p.Ser266Arg) c.735C>G (p.Ser245Arg) c.804C>G (p.Ser268Arg) | |
| 1 | g.6474037G= | CA1151505722 | PLEKHG5 | c.567C= (p.Ser189=) c.741C= (p.Ser247=) c.678C= (p.Ser226=) n.1043C= c.774C= (p.Ser258=) c.864C= (p.Ser288=) c.*779C= (n.*779C=) c.*395C= (n.*395C=) c.798C= (p.Ser266=) c.735C= (p.Ser245=) c.804C= (p.Ser268=) | |
| 1 | g.6474037G>T | CA338138442 | PLEKHG5 | c.567C>A (p.Ser189Arg) c.741C>A (p.Ser247Arg) c.678C>A (p.Ser226Arg) n.1043C>A c.774C>A (p.Ser258Arg) c.864C>A (p.Ser288Arg) c.*779C>A (n.*779C>A) c.*395C>A (n.*395C>A) c.798C>A (p.Ser266Arg) c.735C>A (p.Ser245Arg) c.804C>A (p.Ser268Arg) | |
| 1 | g.6474038C>A | CA338138445 | PLEKHG5 | c.566G>T (p.Ser189Ile) c.740G>T (p.Ser247Ile) c.677G>T (p.Ser226Ile) n.1042G>T c.773G>T (p.Ser258Ile) c.863G>T (p.Ser288Ile) c.*778G>T (n.*778G>T) c.*394G>T (n.*394G>T) c.797G>T (p.Ser266Ile) c.734G>T (p.Ser245Ile) c.803G>T (p.Ser268Ile) | |
| 1 | g.6474038C= | CA1151505726 | PLEKHG5 | c.566G= (p.Ser189=) c.740G= (p.Ser247=) c.677G= (p.Ser226=) n.1042G= c.773G= (p.Ser258=) c.863G= (p.Ser288=) c.*778G= (n.*778G=) c.*394G= (n.*394G=) c.797G= (p.Ser266=) c.734G= (p.Ser245=) c.803G= (p.Ser268=) | |
| 1 | g.6474038C>G | CA338138448 | PLEKHG5 | c.566G>C (p.Ser189Thr) c.740G>C (p.Ser247Thr) c.677G>C (p.Ser226Thr) n.1042G>C c.773G>C (p.Ser258Thr) c.863G>C (p.Ser288Thr) c.*778G>C (n.*778G>C) c.*394G>C (n.*394G>C) c.797G>C (p.Ser266Thr) c.734G>C (p.Ser245Thr) c.803G>C (p.Ser268Thr) | |
| 1 | g.6474038C>T | CA338138446 | PLEKHG5 | c.566G>A (p.Ser189Asn) c.740G>A (p.Ser247Asn) c.677G>A (p.Ser226Asn) n.1042G>A c.773G>A (p.Ser258Asn) c.863G>A (p.Ser288Asn) c.*778G>A (n.*778G>A) c.*394G>A (n.*394G>A) c.797G>A (p.Ser266Asn) c.734G>A (p.Ser245Asn) c.803G>A (p.Ser268Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474039T>A | CA338138454 | PLEKHG5 | c.565A>T (p.Ser189Cys) c.739A>T (p.Ser247Cys) c.676A>T (p.Ser226Cys) n.1041A>T c.772A>T (p.Ser258Cys) c.862A>T (p.Ser288Cys) c.*777A>T (n.*777A>T) c.*393A>T (n.*393A>T) c.796A>T (p.Ser266Cys) c.733A>T (p.Ser245Cys) c.802A>T (p.Ser268Cys) | |
| 1 | g.6474039T>C | CA338138457 | PLEKHG5 | c.565A>G (p.Ser189Gly) c.739A>G (p.Ser247Gly) c.676A>G (p.Ser226Gly) n.1041A>G c.772A>G (p.Ser258Gly) c.862A>G (p.Ser288Gly) c.*777A>G (n.*777A>G) c.*393A>G (n.*393A>G) c.796A>G (p.Ser266Gly) c.733A>G (p.Ser245Gly) c.802A>G (p.Ser268Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474039T>G | CA338138460 | PLEKHG5 | c.565A>C (p.Ser189Arg) c.739A>C (p.Ser247Arg) c.676A>C (p.Ser226Arg) n.1041A>C c.772A>C (p.Ser258Arg) c.862A>C (p.Ser288Arg) c.*777A>C (n.*777A>C) c.*393A>C (n.*393A>C) c.796A>C (p.Ser266Arg) c.733A>C (p.Ser245Arg) c.802A>C (p.Ser268Arg) | |
| 1 | g.6474039T= | CA1151505732 | PLEKHG5 | c.565A= (p.Ser189=) c.739A= (p.Ser247=) c.676A= (p.Ser226=) n.1041A= c.772A= (p.Ser258=) c.862A= (p.Ser288=) c.*777A= (n.*777A=) c.*393A= (n.*393A=) c.796A= (p.Ser266=) c.733A= (p.Ser245=) c.802A= (p.Ser268=) | |
| 1 | g.6474040C>A | CA338138462 | PLEKHG5 | c.564G>T (p.Gln188His) c.738G>T (p.Gln246His) c.675G>T (p.Gln225His) n.1040G>T c.771G>T (p.Gln257His) c.861G>T (p.Gln287His) c.*776G>T (n.*776G>T) c.*392G>T (n.*392G>T) c.795G>T (p.Gln265His) c.732G>T (p.Gln244His) c.801G>T (p.Gln267His) | |
| 1 | g.6474040C>G | CA338138465 | PLEKHG5 | c.564G>C (p.Gln188His) c.738G>C (p.Gln246His) c.675G>C (p.Gln225His) n.1040G>C c.771G>C (p.Gln257His) c.861G>C (p.Gln287His) c.*776G>C (n.*776G>C) c.*392G>C (n.*392G>C) c.795G>C (p.Gln265His) c.732G>C (p.Gln244His) c.801G>C (p.Gln267His) | |
| 1 | g.6474040C>T | CA415833907 | PLEKHG5 | c.564G>A (p.Gln188=) c.738G>A (p.Gln246=) c.675G>A (p.Gln225=) n.1040G>A c.771G>A (p.Gln257=) c.861G>A (p.Gln287=) c.*776G>A (n.*776G>A) c.*392G>A (n.*392G>A) c.795G>A (p.Gln265=) c.732G>A (p.Gln244=) c.801G>A (p.Gln267=) | |
| 1 | g.6474041T>A | CA338138467 | PLEKHG5 | c.563A>T (p.Gln188Leu) c.737A>T (p.Gln246Leu) c.674A>T (p.Gln225Leu) n.1039A>T c.770A>T (p.Gln257Leu) c.860A>T (p.Gln287Leu) c.*775A>T (n.*775A>T) c.*391A>T (n.*391A>T) c.794A>T (p.Gln265Leu) c.731A>T (p.Gln244Leu) c.800A>T (p.Gln267Leu) | |
| 1 | g.6474041T>C | CA338138470 | PLEKHG5 | c.563A>G (p.Gln188Arg) c.737A>G (p.Gln246Arg) c.674A>G (p.Gln225Arg) n.1039A>G c.770A>G (p.Gln257Arg) c.860A>G (p.Gln287Arg) c.*775A>G (n.*775A>G) c.*391A>G (n.*391A>G) c.794A>G (p.Gln265Arg) c.731A>G (p.Gln244Arg) c.800A>G (p.Gln267Arg) | |
| 1 | g.6474041T>G | CA338138472 | PLEKHG5 | c.563A>C (p.Gln188Pro) c.737A>C (p.Gln246Pro) c.674A>C (p.Gln225Pro) n.1039A>C c.770A>C (p.Gln257Pro) c.860A>C (p.Gln287Pro) c.*775A>C (n.*775A>C) c.*391A>C (n.*391A>C) c.794A>C (p.Gln265Pro) c.731A>C (p.Gln244Pro) c.800A>C (p.Gln267Pro) | |
| 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=) |