| 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.6474130C>A | CA338138832 | PLEKHG5 | c.474G>T (p.Glu158Asp) c.648G>T (p.Glu216Asp) c.585G>T (p.Glu195Asp) n.950G>T c.681G>T (p.Glu227Asp) c.771G>T (p.Glu257Asp) c.*686G>T (n.*686G>T) c.*302G>T (n.*302G>T) c.705G>T (p.Glu235Asp) c.642G>T (p.Glu214Asp) c.711G>T (p.Glu237Asp) | |
| 1 | g.6474130C= | CA1151506063 | PLEKHG5 | c.474G= (p.Glu158=) c.648G= (p.Glu216=) c.585G= (p.Glu195=) n.950G= c.681G= (p.Glu227=) c.771G= (p.Glu257=) c.*686G= (n.*686G=) c.*302G= (n.*302G=) c.705G= (p.Glu235=) c.642G= (p.Glu214=) c.711G= (p.Glu237=) | |
| 1 | g.6474130C>G | CA338138835 | PLEKHG5 | c.474G>C (p.Glu158Asp) c.648G>C (p.Glu216Asp) c.585G>C (p.Glu195Asp) n.950G>C c.681G>C (p.Glu227Asp) c.771G>C (p.Glu257Asp) c.*686G>C (n.*686G>C) c.*302G>C (n.*302G>C) c.705G>C (p.Glu235Asp) c.642G>C (p.Glu214Asp) c.711G>C (p.Glu237Asp) | |
| 1 | g.6474130C>T | CA561837 | PLEKHG5 | c.474G>A (p.Glu158=) c.648G>A (p.Glu216=) c.585G>A (p.Glu195=) n.950G>A c.681G>A (p.Glu227=) c.771G>A (p.Glu257=) c.*686G>A (n.*686G>A) c.*302G>A (n.*302G>A) c.705G>A (p.Glu235=) c.642G>A (p.Glu214=) c.711G>A (p.Glu237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6474131T>A | CA338138837 | PLEKHG5 | c.473A>T (p.Glu158Val) c.647A>T (p.Glu216Val) c.584A>T (p.Glu195Val) n.949A>T c.680A>T (p.Glu227Val) c.770A>T (p.Glu257Val) c.*685A>T (n.*685A>T) c.*301A>T (n.*301A>T) c.704A>T (p.Glu235Val) c.641A>T (p.Glu214Val) c.710A>T (p.Glu237Val) | |
| 1 | g.6474131T>C | CA338138839 | PLEKHG5 | c.473A>G (p.Glu158Gly) c.647A>G (p.Glu216Gly) c.584A>G (p.Glu195Gly) n.949A>G c.680A>G (p.Glu227Gly) c.770A>G (p.Glu257Gly) c.*685A>G (n.*685A>G) c.*301A>G (n.*301A>G) c.704A>G (p.Glu235Gly) c.641A>G (p.Glu214Gly) c.710A>G (p.Glu237Gly) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6474131T>G | CA338138840 | PLEKHG5 | c.473A>C (p.Glu158Ala) c.647A>C (p.Glu216Ala) c.584A>C (p.Glu195Ala) n.949A>C c.680A>C (p.Glu227Ala) c.770A>C (p.Glu257Ala) c.*685A>C (n.*685A>C) c.*301A>C (n.*301A>C) c.704A>C (p.Glu235Ala) c.641A>C (p.Glu214Ala) c.710A>C (p.Glu237Ala) | |
| 1 | g.6474131T= | CA1151506069 | PLEKHG5 | c.473A= (p.Glu158=) c.647A= (p.Glu216=) c.584A= (p.Glu195=) n.949A= c.680A= (p.Glu227=) c.770A= (p.Glu257=) c.*685A= (n.*685A=) c.*301A= (n.*301A=) c.704A= (p.Glu235=) c.641A= (p.Glu214=) c.710A= (p.Glu237=) | |
| 1 | g.6474132C>A | CA338138842 | PLEKHG5 | c.472G>T (p.Glu158Ter) c.646G>T (p.Glu216Ter) c.583G>T (p.Glu195Ter) n.948G>T c.679G>T (p.Glu227Ter) c.769G>T (p.Glu257Ter) c.*684G>T (n.*684G>T) c.*300G>T (n.*300G>T) c.703G>T (p.Glu235Ter) c.640G>T (p.Glu214Ter) c.709G>T (p.Glu237Ter) | |
| 1 | g.6474132C>G | CA338138844 | PLEKHG5 | c.472G>C (p.Glu158Gln) c.646G>C (p.Glu216Gln) c.583G>C (p.Glu195Gln) n.948G>C c.679G>C (p.Glu227Gln) c.769G>C (p.Glu257Gln) c.*684G>C (n.*684G>C) c.*300G>C (n.*300G>C) c.703G>C (p.Glu235Gln) c.640G>C (p.Glu214Gln) c.709G>C (p.Glu237Gln) | |
| 1 | g.6474132C>T | CA338138845 | PLEKHG5 | c.472G>A (p.Glu158Lys) c.646G>A (p.Glu216Lys) c.583G>A (p.Glu195Lys) n.948G>A c.679G>A (p.Glu227Lys) c.769G>A (p.Glu257Lys) c.*684G>A (n.*684G>A) c.*300G>A (n.*300G>A) c.703G>A (p.Glu235Lys) c.640G>A (p.Glu214Lys) c.709G>A (p.Glu237Lys) | gnomAD v4 |
| 1 | g.6474133C>A | CA415833996 | PLEKHG5 | c.471G>T (p.Val157=) c.645G>T (p.Val215=) c.582G>T (p.Val194=) n.947G>T c.678G>T (p.Val226=) c.768G>T (p.Val256=) c.*683G>T (n.*683G>T) c.*299G>T (n.*299G>T) c.702G>T (p.Val234=) c.639G>T (p.Val213=) c.708G>T (p.Val236=) | |
| 1 | g.6474133C= | CA1151506078 | PLEKHG5 | c.471G= (p.Val157=) c.645G= (p.Val215=) c.582G= (p.Val194=) n.947G= c.678G= (p.Val226=) c.768G= (p.Val256=) c.*683G= (n.*683G=) c.*299G= (n.*299G=) c.702G= (p.Val234=) c.639G= (p.Val213=) c.708G= (p.Val236=) | |
| 1 | g.6474133C>G | CA415833994 | PLEKHG5 | c.471G>C (p.Val157=) c.645G>C (p.Val215=) c.582G>C (p.Val194=) n.947G>C c.678G>C (p.Val226=) c.768G>C (p.Val256=) c.*683G>C (n.*683G>C) c.*299G>C (n.*299G>C) c.702G>C (p.Val234=) c.639G>C (p.Val213=) c.708G>C (p.Val236=) | |
| 1 | g.6474133C>T | CA415833995 | PLEKHG5 | c.471G>A (p.Val157=) c.645G>A (p.Val215=) c.582G>A (p.Val194=) n.947G>A c.678G>A (p.Val226=) c.768G>A (p.Val256=) c.*683G>A (n.*683G>A) c.*299G>A (n.*299G>A) c.702G>A (p.Val234=) c.639G>A (p.Val213=) c.708G>A (p.Val236=) | dbSNP gnomAD v4 |
| 1 | g.6474134A>C | CA338138847 | PLEKHG5 | c.470T>G (p.Val157Gly) c.644T>G (p.Val215Gly) c.581T>G (p.Val194Gly) n.946T>G c.677T>G (p.Val226Gly) c.767T>G (p.Val256Gly) c.*682T>G (n.*682T>G) c.*298T>G (n.*298T>G) c.701T>G (p.Val234Gly) c.638T>G (p.Val213Gly) c.707T>G (p.Val236Gly) | gnomAD v4 |
| 1 | g.6474134A>G | CA338138848 | PLEKHG5 | c.470T>C (p.Val157Ala) c.644T>C (p.Val215Ala) c.581T>C (p.Val194Ala) n.946T>C c.677T>C (p.Val226Ala) c.767T>C (p.Val256Ala) c.*682T>C (n.*682T>C) c.*298T>C (n.*298T>C) c.701T>C (p.Val234Ala) c.638T>C (p.Val213Ala) c.707T>C (p.Val236Ala) | |
| 1 | g.6474134A>T | CA338138850 | PLEKHG5 | c.470T>A (p.Val157Glu) c.644T>A (p.Val215Glu) c.581T>A (p.Val194Glu) n.946T>A c.677T>A (p.Val226Glu) c.767T>A (p.Val256Glu) c.*682T>A (n.*682T>A) c.*298T>A (n.*298T>A) c.701T>A (p.Val234Glu) c.638T>A (p.Val213Glu) c.707T>A (p.Val236Glu) | |
| 1 | g.6474135C>A | CA338138851 | PLEKHG5 | c.469G>T (p.Val157Leu) c.643G>T (p.Val215Leu) c.580G>T (p.Val194Leu) n.945G>T c.676G>T (p.Val226Leu) c.766G>T (p.Val256Leu) c.*681G>T (n.*681G>T) c.*297G>T (n.*297G>T) c.700G>T (p.Val234Leu) c.637G>T (p.Val213Leu) c.706G>T (p.Val236Leu) | |
| 1 | g.6474135C>G | CA338138852 | PLEKHG5 | c.469G>C (p.Val157Leu) c.643G>C (p.Val215Leu) c.580G>C (p.Val194Leu) n.945G>C c.676G>C (p.Val226Leu) c.766G>C (p.Val256Leu) c.*681G>C (n.*681G>C) c.*297G>C (n.*297G>C) c.700G>C (p.Val234Leu) c.637G>C (p.Val213Leu) c.706G>C (p.Val236Leu) | |
| 1 | g.6474135C>T | CA338138854 | PLEKHG5 | c.469G>A (p.Val157Met) c.643G>A (p.Val215Met) c.580G>A (p.Val194Met) n.945G>A c.676G>A (p.Val226Met) c.766G>A (p.Val256Met) c.*681G>A (n.*681G>A) c.*297G>A (n.*297G>A) c.700G>A (p.Val234Met) c.637G>A (p.Val213Met) c.706G>A (p.Val236Met) | |
| 1 | g.6474136C>A | CA338138858 | PLEKHG5 | c.468G>T (p.Lys156Asn) c.642G>T (p.Lys214Asn) c.579G>T (p.Lys193Asn) n.944G>T c.675G>T (p.Lys225Asn) c.765G>T (p.Lys255Asn) c.*680G>T (n.*680G>T) c.*296G>T (n.*296G>T) c.699G>T (p.Lys233Asn) c.636G>T (p.Lys212Asn) c.705G>T (p.Lys235Asn) | |
| 1 | g.6474136C>G | CA338138856 | PLEKHG5 | c.468G>C (p.Lys156Asn) c.642G>C (p.Lys214Asn) c.579G>C (p.Lys193Asn) n.944G>C c.675G>C (p.Lys225Asn) c.765G>C (p.Lys255Asn) c.*680G>C (n.*680G>C) c.*296G>C (n.*296G>C) c.699G>C (p.Lys233Asn) c.636G>C (p.Lys212Asn) c.705G>C (p.Lys235Asn) | |
| 1 | g.6474136C>T | CA415834000 | PLEKHG5 | c.468G>A (p.Lys156=) c.642G>A (p.Lys214=) c.579G>A (p.Lys193=) n.944G>A c.675G>A (p.Lys225=) c.765G>A (p.Lys255=) c.*680G>A (n.*680G>A) c.*296G>A (n.*296G>A) c.699G>A (p.Lys233=) c.636G>A (p.Lys212=) c.705G>A (p.Lys235=) | |
| 1 | g.6474137T>A | CA338138859 | PLEKHG5 | c.467A>T (p.Lys156Met) c.641A>T (p.Lys214Met) c.578A>T (p.Lys193Met) n.943A>T c.674A>T (p.Lys225Met) c.764A>T (p.Lys255Met) c.*679A>T (n.*679A>T) c.*295A>T (n.*295A>T) c.698A>T (p.Lys233Met) c.635A>T (p.Lys212Met) c.704A>T (p.Lys235Met) | |
| 1 | g.6474137T>C | CA338138860 | PLEKHG5 | c.467A>G (p.Lys156Arg) c.641A>G (p.Lys214Arg) c.578A>G (p.Lys193Arg) n.943A>G c.674A>G (p.Lys225Arg) c.764A>G (p.Lys255Arg) c.*679A>G (n.*679A>G) c.*295A>G (n.*295A>G) c.698A>G (p.Lys233Arg) c.635A>G (p.Lys212Arg) c.704A>G (p.Lys235Arg) | |
| 1 | g.6474137T>G | CA338138862 | PLEKHG5 | c.467A>C (p.Lys156Thr) c.641A>C (p.Lys214Thr) c.578A>C (p.Lys193Thr) n.943A>C c.674A>C (p.Lys225Thr) c.764A>C (p.Lys255Thr) c.*679A>C (n.*679A>C) c.*295A>C (n.*295A>C) c.698A>C (p.Lys233Thr) c.635A>C (p.Lys212Thr) c.704A>C (p.Lys235Thr) | |
| 1 | g.6474138T>A | CA338138865 | PLEKHG5 | c.466A>T (p.Lys156Ter) c.640A>T (p.Lys214Ter) c.577A>T (p.Lys193Ter) n.942A>T c.673A>T (p.Lys225Ter) c.763A>T (p.Lys255Ter) c.*678A>T (n.*678A>T) c.*294A>T (n.*294A>T) c.697A>T (p.Lys233Ter) c.634A>T (p.Lys212Ter) c.703A>T (p.Lys235Ter) | |
| 1 | g.6474138T>C | CA338138866 | PLEKHG5 | c.466A>G (p.Lys156Glu) c.640A>G (p.Lys214Glu) c.577A>G (p.Lys193Glu) n.942A>G c.673A>G (p.Lys225Glu) c.763A>G (p.Lys255Glu) c.*678A>G (n.*678A>G) c.*294A>G (n.*294A>G) c.697A>G (p.Lys233Glu) c.634A>G (p.Lys212Glu) c.703A>G (p.Lys235Glu) | |
| 1 | g.6474138T>G | CA338138867 | PLEKHG5 | c.466A>C (p.Lys156Gln) c.640A>C (p.Lys214Gln) c.577A>C (p.Lys193Gln) n.942A>C c.673A>C (p.Lys225Gln) c.763A>C (p.Lys255Gln) c.*678A>C (n.*678A>C) c.*294A>C (n.*294A>C) c.697A>C (p.Lys233Gln) c.634A>C (p.Lys212Gln) c.703A>C (p.Lys235Gln) | |
| 1 | g.6474139G>A | CA415834002 | PLEKHG5 | c.465C>T (p.Gly155=) c.639C>T (p.Gly213=) c.576C>T (p.Gly192=) n.941C>T c.672C>T (p.Gly224=) c.762C>T (p.Gly254=) c.*677C>T (n.*677C>T) c.*293C>T (n.*293C>T) c.696C>T (p.Gly232=) c.633C>T (p.Gly211=) c.702C>T (p.Gly234=) | gnomAD v4 |
| 1 | g.6474139G>C | CA415834004 | PLEKHG5 | c.465C>G (p.Gly155=) c.639C>G (p.Gly213=) c.576C>G (p.Gly192=) n.941C>G c.672C>G (p.Gly224=) c.762C>G (p.Gly254=) c.*677C>G (n.*677C>G) c.*293C>G (n.*293C>G) c.696C>G (p.Gly232=) c.633C>G (p.Gly211=) c.702C>G (p.Gly234=) | |
| 1 | g.6474139G>T | CA415834003 | PLEKHG5 | c.465C>A (p.Gly155=) c.639C>A (p.Gly213=) c.576C>A (p.Gly192=) n.941C>A c.672C>A (p.Gly224=) c.762C>A (p.Gly254=) c.*677C>A (n.*677C>A) c.*293C>A (n.*293C>A) c.696C>A (p.Gly232=) c.633C>A (p.Gly211=) c.702C>A (p.Gly234=) | |
| 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) |