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.6467797C= | CA1146305479 | PLEKHG5 | c.3011+28G= (n.3011+28G=) c.3185+28G= (n.3185+28G=) c.3122+28G= (n.3122+28G=) n.3487+28G= c.3218+28G= (n.3218+28G=) c.3308+28G= (n.3308+28G=) c.*3223+28G= (n.*3223+28G=) c.2318+28G= (n.2318+28G=) c.*2839+28G= (n.*2839+28G=) c.912G= (n.912G=) c.*18+28G= (n.*18+28G=) c.2549+28G= (n.2549+28G=) c.3242+28G= (n.3242+28G=) c.3179+28G= (n.3179+28G=) n.2213+28G= c.3248+28G= (n.3248+28G=) | |
| 1 | g.6467797C>G | CA561045 | PLEKHG5 | c.3011+28G>C (n.3011+28G>C) c.3185+28G>C (n.3185+28G>C) c.3122+28G>C (n.3122+28G>C) n.3487+28G>C c.3218+28G>C (n.3218+28G>C) c.3308+28G>C (n.3308+28G>C) c.*3223+28G>C (n.*3223+28G>C) c.2318+28G>C (n.2318+28G>C) c.*2839+28G>C (n.*2839+28G>C) c.912G>C (n.912G>C) c.*18+28G>C (n.*18+28G>C) c.2549+28G>C (n.2549+28G>C) c.3242+28G>C (n.3242+28G>C) c.3179+28G>C (n.3179+28G>C) n.2213+28G>C c.3248+28G>C (n.3248+28G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467798T>G | CA1151516108 | PLEKHG5 | c.3011+27A>C (n.3011+27A>C) c.3185+27A>C (n.3185+27A>C) c.3122+27A>C (n.3122+27A>C) n.3487+27A>C c.3218+27A>C (n.3218+27A>C) c.3308+27A>C (n.3308+27A>C) c.*3223+27A>C (n.*3223+27A>C) c.2318+27A>C (n.2318+27A>C) c.*2839+27A>C (n.*2839+27A>C) c.911A>C (n.911A>C) c.*18+27A>C (n.*18+27A>C) c.2549+27A>C (n.2549+27A>C) c.3242+27A>C (n.3242+27A>C) c.3179+27A>C (n.3179+27A>C) n.2213+27A>C c.3248+27A>C (n.3248+27A>C) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467798T= | CA1151516110 | PLEKHG5 | c.3011+27A= (n.3011+27A=) c.3185+27A= (n.3185+27A=) c.3122+27A= (n.3122+27A=) n.3487+27A= c.3218+27A= (n.3218+27A=) c.3308+27A= (n.3308+27A=) c.*3223+27A= (n.*3223+27A=) c.2318+27A= (n.2318+27A=) c.*2839+27A= (n.*2839+27A=) c.911A= (n.911A=) c.*18+27A= (n.*18+27A=) c.2549+27A= (n.2549+27A=) c.3242+27A= (n.3242+27A=) c.3179+27A= (n.3179+27A=) n.2213+27A= c.3248+27A= (n.3248+27A=) | |
| 1 | g.6467799G>T | CA2642996088 | PLEKHG5 | c.3011+26C>A (n.3011+26C>A) c.3185+26C>A (n.3185+26C>A) c.3122+26C>A (n.3122+26C>A) n.3487+26C>A c.3218+26C>A (n.3218+26C>A) c.3308+26C>A (n.3308+26C>A) c.*3223+26C>A (n.*3223+26C>A) c.2318+26C>A (n.2318+26C>A) c.*2839+26C>A (n.*2839+26C>A) c.910C>A (n.910C>A) c.*18+26C>A (n.*18+26C>A) c.2549+26C>A (n.2549+26C>A) c.3242+26C>A (n.3242+26C>A) c.3179+26C>A (n.3179+26C>A) n.2213+26C>A c.3248+26C>A (n.3248+26C>A) | gnomAD v4 |
| 1 | g.6467800C= | CA1151516113 | PLEKHG5 | c.3011+25G= (n.3011+25G=) c.3185+25G= (n.3185+25G=) c.3122+25G= (n.3122+25G=) n.3487+25G= c.3218+25G= (n.3218+25G=) c.3308+25G= (n.3308+25G=) c.*3223+25G= (n.*3223+25G=) c.2318+25G= (n.2318+25G=) c.*2839+25G= (n.*2839+25G=) c.909G= (n.909G=) c.*18+25G= (n.*18+25G=) c.2549+25G= (n.2549+25G=) c.3242+25G= (n.3242+25G=) c.3179+25G= (n.3179+25G=) n.2213+25G= c.3248+25G= (n.3248+25G=) | |
| 1 | g.6467800C>T | CA521018438 | PLEKHG5 | c.3011+25G>A (n.3011+25G>A) c.3185+25G>A (n.3185+25G>A) c.3122+25G>A (n.3122+25G>A) n.3487+25G>A c.3218+25G>A (n.3218+25G>A) c.3308+25G>A (n.3308+25G>A) c.*3223+25G>A (n.*3223+25G>A) c.2318+25G>A (n.2318+25G>A) c.*2839+25G>A (n.*2839+25G>A) c.909G>A (n.909G>A) c.*18+25G>A (n.*18+25G>A) c.2549+25G>A (n.2549+25G>A) c.3242+25G>A (n.3242+25G>A) c.3179+25G>A (n.3179+25G>A) n.2213+25G>A c.3248+25G>A (n.3248+25G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467801C>A | CA2642996089 | PLEKHG5 | c.3011+24G>T (n.3011+24G>T) c.3185+24G>T (n.3185+24G>T) c.3122+24G>T (n.3122+24G>T) n.3487+24G>T c.3218+24G>T (n.3218+24G>T) c.3308+24G>T (n.3308+24G>T) c.*3223+24G>T (n.*3223+24G>T) c.2318+24G>T (n.2318+24G>T) c.*2839+24G>T (n.*2839+24G>T) c.908G>T (n.908G>T) c.*18+24G>T (n.*18+24G>T) c.2549+24G>T (n.2549+24G>T) c.3242+24G>T (n.3242+24G>T) c.3179+24G>T (n.3179+24G>T) n.2213+24G>T c.3248+24G>T (n.3248+24G>T) | gnomAD v4 |
| 1 | g.6467802C>A | CA2642996090 | PLEKHG5 | c.3011+23G>T (n.3011+23G>T) c.3185+23G>T (n.3185+23G>T) c.3122+23G>T (n.3122+23G>T) n.3487+23G>T c.3218+23G>T (n.3218+23G>T) c.3308+23G>T (n.3308+23G>T) c.*3223+23G>T (n.*3223+23G>T) c.2318+23G>T (n.2318+23G>T) c.*2839+23G>T (n.*2839+23G>T) c.907G>T (n.907G>T) c.*18+23G>T (n.*18+23G>T) c.2549+23G>T (n.2549+23G>T) c.3242+23G>T (n.3242+23G>T) c.3179+23G>T (n.3179+23G>T) n.2213+23G>T c.3248+23G>T (n.3248+23G>T) | gnomAD v4 |
| 1 | g.6467802C= | CA1151516114 | PLEKHG5 | c.3011+23G= (n.3011+23G=) c.3185+23G= (n.3185+23G=) c.3122+23G= (n.3122+23G=) n.3487+23G= c.3218+23G= (n.3218+23G=) c.3308+23G= (n.3308+23G=) c.*3223+23G= (n.*3223+23G=) c.2318+23G= (n.2318+23G=) c.*2839+23G= (n.*2839+23G=) c.907G= (n.907G=) c.*18+23G= (n.*18+23G=) c.2549+23G= (n.2549+23G=) c.3242+23G= (n.3242+23G=) c.3179+23G= (n.3179+23G=) n.2213+23G= c.3248+23G= (n.3248+23G=) | |
| 1 | g.6467802C>G | CA561046 | PLEKHG5 | c.3011+23G>C (n.3011+23G>C) c.3185+23G>C (n.3185+23G>C) c.3122+23G>C (n.3122+23G>C) n.3487+23G>C c.3218+23G>C (n.3218+23G>C) c.3308+23G>C (n.3308+23G>C) c.*3223+23G>C (n.*3223+23G>C) c.2318+23G>C (n.2318+23G>C) c.*2839+23G>C (n.*2839+23G>C) c.907G>C (n.907G>C) c.*18+23G>C (n.*18+23G>C) c.2549+23G>C (n.2549+23G>C) c.3242+23G>C (n.3242+23G>C) c.3179+23G>C (n.3179+23G>C) n.2213+23G>C c.3248+23G>C (n.3248+23G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467802C>T | CA2642996091 | PLEKHG5 | c.3011+23G>A (n.3011+23G>A) c.3185+23G>A (n.3185+23G>A) c.3122+23G>A (n.3122+23G>A) n.3487+23G>A c.3218+23G>A (n.3218+23G>A) c.3308+23G>A (n.3308+23G>A) c.*3223+23G>A (n.*3223+23G>A) c.2318+23G>A (n.2318+23G>A) c.*2839+23G>A (n.*2839+23G>A) c.907G>A (n.907G>A) c.*18+23G>A (n.*18+23G>A) c.2549+23G>A (n.2549+23G>A) c.3242+23G>A (n.3242+23G>A) c.3179+23G>A (n.3179+23G>A) n.2213+23G>A c.3248+23G>A (n.3248+23G>A) | gnomAD v4 |
| 1 | g.6467803T>C | CA737845367 | PLEKHG5 | c.3011+22A>G (n.3011+22A>G) c.3185+22A>G (n.3185+22A>G) c.3122+22A>G (n.3122+22A>G) n.3487+22A>G c.3218+22A>G (n.3218+22A>G) c.3308+22A>G (n.3308+22A>G) c.*3223+22A>G (n.*3223+22A>G) c.2318+22A>G (n.2318+22A>G) c.*2839+22A>G (n.*2839+22A>G) c.906A>G (n.906A>G) c.*18+22A>G (n.*18+22A>G) c.2549+22A>G (n.2549+22A>G) c.3242+22A>G (n.3242+22A>G) c.3179+22A>G (n.3179+22A>G) n.2213+22A>G c.3248+22A>G (n.3248+22A>G) | dbSNP |
| 1 | g.6467803T= | CA1151516118 | PLEKHG5 | c.3011+22A= (n.3011+22A=) c.3185+22A= (n.3185+22A=) c.3122+22A= (n.3122+22A=) n.3487+22A= c.3218+22A= (n.3218+22A=) c.3308+22A= (n.3308+22A=) c.*3223+22A= (n.*3223+22A=) c.2318+22A= (n.2318+22A=) c.*2839+22A= (n.*2839+22A=) c.906A= (n.906A=) c.*18+22A= (n.*18+22A=) c.2549+22A= (n.2549+22A=) c.3242+22A= (n.3242+22A=) c.3179+22A= (n.3179+22A=) n.2213+22A= c.3248+22A= (n.3248+22A=) | |
| 1 | g.6467805C= | CA1151516122 | PLEKHG5 | c.3011+20G= (n.3011+20G=) c.3185+20G= (n.3185+20G=) c.3122+20G= (n.3122+20G=) n.3487+20G= c.3218+20G= (n.3218+20G=) c.3308+20G= (n.3308+20G=) c.*3223+20G= (n.*3223+20G=) c.2318+20G= (n.2318+20G=) c.*2839+20G= (n.*2839+20G=) c.904G= (n.904G=) c.*18+20G= (n.*18+20G=) c.2549+20G= (n.2549+20G=) c.3242+20G= (n.3242+20G=) c.3179+20G= (n.3179+20G=) n.2213+20G= c.3248+20G= (n.3248+20G=) | |
| 1 | g.6467805C>T | CA521018439 | PLEKHG5 | c.3011+20G>A (n.3011+20G>A) c.3185+20G>A (n.3185+20G>A) c.3122+20G>A (n.3122+20G>A) n.3487+20G>A c.3218+20G>A (n.3218+20G>A) c.3308+20G>A (n.3308+20G>A) c.*3223+20G>A (n.*3223+20G>A) c.2318+20G>A (n.2318+20G>A) c.*2839+20G>A (n.*2839+20G>A) c.904G>A (n.904G>A) c.*18+20G>A (n.*18+20G>A) c.2549+20G>A (n.2549+20G>A) c.3242+20G>A (n.3242+20G>A) c.3179+20G>A (n.3179+20G>A) n.2213+20G>A c.3248+20G>A (n.3248+20G>A) | dbSNP gnomAD v2 |
| 1 | g.6467806C= | CA1151516131 | PLEKHG5 | c.3011+19G= (n.3011+19G=) c.3185+19G= (n.3185+19G=) c.3122+19G= (n.3122+19G=) n.3487+19G= c.3218+19G= (n.3218+19G=) c.3308+19G= (n.3308+19G=) c.*3223+19G= (n.*3223+19G=) c.2318+19G= (n.2318+19G=) c.*2839+19G= (n.*2839+19G=) c.903G= (n.903G=) c.*18+19G= (n.*18+19G=) c.2549+19G= (n.2549+19G=) c.3242+19G= (n.3242+19G=) c.3179+19G= (n.3179+19G=) n.2213+19G= c.3248+19G= (n.3248+19G=) | |
| 1 | g.6467806C>G | CA561047 | PLEKHG5 | c.3011+19G>C (n.3011+19G>C) c.3185+19G>C (n.3185+19G>C) c.3122+19G>C (n.3122+19G>C) n.3487+19G>C c.3218+19G>C (n.3218+19G>C) c.3308+19G>C (n.3308+19G>C) c.*3223+19G>C (n.*3223+19G>C) c.2318+19G>C (n.2318+19G>C) c.*2839+19G>C (n.*2839+19G>C) c.903G>C (n.903G>C) c.*18+19G>C (n.*18+19G>C) c.2549+19G>C (n.2549+19G>C) c.3242+19G>C (n.3242+19G>C) c.3179+19G>C (n.3179+19G>C) n.2213+19G>C c.3248+19G>C (n.3248+19G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467806C>T | CA521018440 | PLEKHG5 | c.3011+19G>A (n.3011+19G>A) c.3185+19G>A (n.3185+19G>A) c.3122+19G>A (n.3122+19G>A) n.3487+19G>A c.3218+19G>A (n.3218+19G>A) c.3308+19G>A (n.3308+19G>A) c.*3223+19G>A (n.*3223+19G>A) c.2318+19G>A (n.2318+19G>A) c.*2839+19G>A (n.*2839+19G>A) c.903G>A (n.903G>A) c.*18+19G>A (n.*18+19G>A) c.2549+19G>A (n.2549+19G>A) c.3242+19G>A (n.3242+19G>A) c.3179+19G>A (n.3179+19G>A) n.2213+19G>A c.3248+19G>A (n.3248+19G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467808C>G | CA2574193222 | PLEKHG5 | c.3011+17G>C (n.3011+17G>C) c.3185+17G>C (n.3185+17G>C) c.3122+17G>C (n.3122+17G>C) n.3487+17G>C c.3218+17G>C (n.3218+17G>C) c.3308+17G>C (n.3308+17G>C) c.*3223+17G>C (n.*3223+17G>C) c.2318+17G>C (n.2318+17G>C) c.*2839+17G>C (n.*2839+17G>C) c.901G>C (n.901G>C) c.*18+17G>C (n.*18+17G>C) c.2549+17G>C (n.2549+17G>C) c.3242+17G>C (n.3242+17G>C) c.3179+17G>C (n.3179+17G>C) n.2213+17G>C c.3248+17G>C (n.3248+17G>C) | |
| 1 | g.6467808C>T | CA2642996092 | PLEKHG5 | c.3011+17G>A (n.3011+17G>A) c.3185+17G>A (n.3185+17G>A) c.3122+17G>A (n.3122+17G>A) n.3487+17G>A c.3218+17G>A (n.3218+17G>A) c.3308+17G>A (n.3308+17G>A) c.*3223+17G>A (n.*3223+17G>A) c.2318+17G>A (n.2318+17G>A) c.*2839+17G>A (n.*2839+17G>A) c.901G>A (n.901G>A) c.*18+17G>A (n.*18+17G>A) c.2549+17G>A (n.2549+17G>A) c.3242+17G>A (n.3242+17G>A) c.3179+17G>A (n.3179+17G>A) n.2213+17G>A c.3248+17G>A (n.3248+17G>A) | ClinVar gnomAD v4 |
| 1 | g.6467809A>C | CA2642996093 | PLEKHG5 | c.3011+16T>G (n.3011+16T>G) c.3185+16T>G (n.3185+16T>G) c.3122+16T>G (n.3122+16T>G) n.3487+16T>G c.3218+16T>G (n.3218+16T>G) c.3308+16T>G (n.3308+16T>G) c.*3223+16T>G (n.*3223+16T>G) c.2318+16T>G (n.2318+16T>G) c.*2839+16T>G (n.*2839+16T>G) c.900T>G (n.900T>G) c.*18+16T>G (n.*18+16T>G) c.2549+16T>G (n.2549+16T>G) c.3242+16T>G (n.3242+16T>G) c.3179+16T>G (n.3179+16T>G) n.2213+16T>G c.3248+16T>G (n.3248+16T>G) | gnomAD v4 |
| 1 | g.6467810G>C | CA2742316179 | PLEKHG5 | c.3011+15C>G (n.3011+15C>G) c.3185+15C>G (n.3185+15C>G) c.3122+15C>G (n.3122+15C>G) n.3487+15C>G c.3218+15C>G (n.3218+15C>G) c.3308+15C>G (n.3308+15C>G) c.*3223+15C>G (n.*3223+15C>G) c.2318+15C>G (n.2318+15C>G) c.*2839+15C>G (n.*2839+15C>G) c.899C>G (n.899C>G) c.*18+15C>G (n.*18+15C>G) c.2549+15C>G (n.2549+15C>G) c.3242+15C>G (n.3242+15C>G) c.3179+15C>G (n.3179+15C>G) n.2213+15C>G c.3248+15C>G (n.3248+15C>G) | |
| 1 | g.6467810G= | CA1151516143 | PLEKHG5 | c.3011+15C= (n.3011+15C=) c.3185+15C= (n.3185+15C=) c.3122+15C= (n.3122+15C=) n.3487+15C= c.3218+15C= (n.3218+15C=) c.3308+15C= (n.3308+15C=) c.*3223+15C= (n.*3223+15C=) c.2318+15C= (n.2318+15C=) c.*2839+15C= (n.*2839+15C=) c.899C= (n.899C=) c.*18+15C= (n.*18+15C=) c.2549+15C= (n.2549+15C=) c.3242+15C= (n.3242+15C=) c.3179+15C= (n.3179+15C=) n.2213+15C= c.3248+15C= (n.3248+15C=) | |
| 1 | g.6467810G>T | CA561048 | PLEKHG5 | c.3011+15C>A (n.3011+15C>A) c.3185+15C>A (n.3185+15C>A) c.3122+15C>A (n.3122+15C>A) n.3487+15C>A c.3218+15C>A (n.3218+15C>A) c.3308+15C>A (n.3308+15C>A) c.*3223+15C>A (n.*3223+15C>A) c.2318+15C>A (n.2318+15C>A) c.*2839+15C>A (n.*2839+15C>A) c.899C>A (n.899C>A) c.*18+15C>A (n.*18+15C>A) c.2549+15C>A (n.2549+15C>A) c.3242+15C>A (n.3242+15C>A) c.3179+15C>A (n.3179+15C>A) n.2213+15C>A c.3248+15C>A (n.3248+15C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467811T>C | CA521018441 | PLEKHG5 | c.3011+14A>G (n.3011+14A>G) c.3185+14A>G (n.3185+14A>G) c.3122+14A>G (n.3122+14A>G) n.3487+14A>G c.3218+14A>G (n.3218+14A>G) c.3308+14A>G (n.3308+14A>G) c.*3223+14A>G (n.*3223+14A>G) c.2318+14A>G (n.2318+14A>G) c.*2839+14A>G (n.*2839+14A>G) c.898A>G (n.898A>G) c.*18+14A>G (n.*18+14A>G) c.2549+14A>G (n.2549+14A>G) c.3242+14A>G (n.3242+14A>G) c.3179+14A>G (n.3179+14A>G) n.2213+14A>G c.3248+14A>G (n.3248+14A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467811T= | CA1151516147 | PLEKHG5 | c.3011+14A= (n.3011+14A=) c.3185+14A= (n.3185+14A=) c.3122+14A= (n.3122+14A=) n.3487+14A= c.3218+14A= (n.3218+14A=) c.3308+14A= (n.3308+14A=) c.*3223+14A= (n.*3223+14A=) c.2318+14A= (n.2318+14A=) c.*2839+14A= (n.*2839+14A=) c.898A= (n.898A=) c.*18+14A= (n.*18+14A=) c.2549+14A= (n.2549+14A=) c.3242+14A= (n.3242+14A=) c.3179+14A= (n.3179+14A=) n.2213+14A= c.3248+14A= (n.3248+14A=) | |
| 1 | g.6467812C>G | CA2574193226 | PLEKHG5 | c.3011+13G>C (n.3011+13G>C) c.3185+13G>C (n.3185+13G>C) c.3122+13G>C (n.3122+13G>C) n.3487+13G>C c.3218+13G>C (n.3218+13G>C) c.3308+13G>C (n.3308+13G>C) c.*3223+13G>C (n.*3223+13G>C) c.2318+13G>C (n.2318+13G>C) c.*2839+13G>C (n.*2839+13G>C) c.897G>C (n.897G>C) c.*18+13G>C (n.*18+13G>C) c.2549+13G>C (n.2549+13G>C) c.3242+13G>C (n.3242+13G>C) c.3179+13G>C (n.3179+13G>C) n.2213+13G>C c.3248+13G>C (n.3248+13G>C) | |
| 1 | g.6467813C= | CA1151516150 | PLEKHG5 | c.3011+12G= (n.3011+12G=) c.3185+12G= (n.3185+12G=) c.3122+12G= (n.3122+12G=) n.3487+12G= c.3218+12G= (n.3218+12G=) c.3308+12G= (n.3308+12G=) c.*3223+12G= (n.*3223+12G=) c.2318+12G= (n.2318+12G=) c.*2839+12G= (n.*2839+12G=) c.896G= (n.896G=) c.*18+12G= (n.*18+12G=) c.2549+12G= (n.2549+12G=) c.3242+12G= (n.3242+12G=) c.3179+12G= (n.3179+12G=) n.2213+12G= c.3248+12G= (n.3248+12G=) | |
| 1 | g.6467813C>T | CA521018442 | PLEKHG5 | c.3011+12G>A (n.3011+12G>A) c.3185+12G>A (n.3185+12G>A) c.3122+12G>A (n.3122+12G>A) n.3487+12G>A c.3218+12G>A (n.3218+12G>A) c.3308+12G>A (n.3308+12G>A) c.*3223+12G>A (n.*3223+12G>A) c.2318+12G>A (n.2318+12G>A) c.*2839+12G>A (n.*2839+12G>A) c.896G>A (n.896G>A) c.*18+12G>A (n.*18+12G>A) c.2549+12G>A (n.2549+12G>A) c.3242+12G>A (n.3242+12G>A) c.3179+12G>A (n.3179+12G>A) n.2213+12G>A c.3248+12G>A (n.3248+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467814A>G | CA2740090568 | PLEKHG5 | c.3011+11T>C (n.3011+11T>C) c.3185+11T>C (n.3185+11T>C) c.3122+11T>C (n.3122+11T>C) n.3487+11T>C c.3218+11T>C (n.3218+11T>C) c.3308+11T>C (n.3308+11T>C) c.*3223+11T>C (n.*3223+11T>C) c.2318+11T>C (n.2318+11T>C) c.*2839+11T>C (n.*2839+11T>C) c.895T>C (n.895T>C) c.*18+11T>C (n.*18+11T>C) c.2549+11T>C (n.2549+11T>C) c.3242+11T>C (n.3242+11T>C) c.3179+11T>C (n.3179+11T>C) n.2213+11T>C c.3248+11T>C (n.3248+11T>C) | ClinVar |
| 1 | g.6467816G>A | CA561049 | PLEKHG5 | c.3011+9C>T (n.3011+9C>T) c.3185+9C>T (n.3185+9C>T) c.3122+9C>T (n.3122+9C>T) n.3487+9C>T c.3218+9C>T (n.3218+9C>T) c.3308+9C>T (n.3308+9C>T) c.*3223+9C>T (n.*3223+9C>T) c.2318+9C>T (n.2318+9C>T) c.*2839+9C>T (n.*2839+9C>T) c.893C>T (n.893C>T) c.*18+9C>T (n.*18+9C>T) c.2549+9C>T (n.2549+9C>T) c.3242+9C>T (n.3242+9C>T) c.3179+9C>T (n.3179+9C>T) n.2213+9C>T c.3248+9C>T (n.3248+9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467816G= | CA1142014300 | PLEKHG5 | c.3011+9C= (n.3011+9C=) c.3185+9C= (n.3185+9C=) c.3122+9C= (n.3122+9C=) n.3487+9C= c.3218+9C= (n.3218+9C=) c.3308+9C= (n.3308+9C=) c.*3223+9C= (n.*3223+9C=) c.2318+9C= (n.2318+9C=) c.*2839+9C= (n.*2839+9C=) c.893C= (n.893C=) c.*18+9C= (n.*18+9C=) c.2549+9C= (n.2549+9C=) c.3242+9C= (n.3242+9C=) c.3179+9C= (n.3179+9C=) n.2213+9C= c.3248+9C= (n.3248+9C=) | |
| 1 | g.6467816G>T | CA2642996094 | PLEKHG5 | c.3011+9C>A (n.3011+9C>A) c.3185+9C>A (n.3185+9C>A) c.3122+9C>A (n.3122+9C>A) n.3487+9C>A c.3218+9C>A (n.3218+9C>A) c.3308+9C>A (n.3308+9C>A) c.*3223+9C>A (n.*3223+9C>A) c.2318+9C>A (n.2318+9C>A) c.*2839+9C>A (n.*2839+9C>A) c.893C>A (n.893C>A) c.*18+9C>A (n.*18+9C>A) c.2549+9C>A (n.2549+9C>A) c.3242+9C>A (n.3242+9C>A) c.3179+9C>A (n.3179+9C>A) n.2213+9C>A c.3248+9C>A (n.3248+9C>A) | gnomAD v4 |
| 1 | g.6467817C>A | CA521018443 | PLEKHG5 | c.3011+8G>T (n.3011+8G>T) c.3185+8G>T (n.3185+8G>T) c.3122+8G>T (n.3122+8G>T) n.3487+8G>T c.3218+8G>T (n.3218+8G>T) c.3308+8G>T (n.3308+8G>T) c.*3223+8G>T (n.*3223+8G>T) c.2318+8G>T (n.2318+8G>T) c.*2839+8G>T (n.*2839+8G>T) c.892G>T (n.892G>T) c.*18+8G>T (n.*18+8G>T) c.2549+8G>T (n.2549+8G>T) c.3242+8G>T (n.3242+8G>T) c.3179+8G>T (n.3179+8G>T) n.2213+8G>T c.3248+8G>T (n.3248+8G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467817C= | CA1151516160 | PLEKHG5 | c.3011+8G= (n.3011+8G=) c.3185+8G= (n.3185+8G=) c.3122+8G= (n.3122+8G=) n.3487+8G= c.3218+8G= (n.3218+8G=) c.3308+8G= (n.3308+8G=) c.*3223+8G= (n.*3223+8G=) c.2318+8G= (n.2318+8G=) c.*2839+8G= (n.*2839+8G=) c.892G= (n.892G=) c.*18+8G= (n.*18+8G=) c.2549+8G= (n.2549+8G=) c.3242+8G= (n.3242+8G=) c.3179+8G= (n.3179+8G=) n.2213+8G= c.3248+8G= (n.3248+8G=) | |
| 1 | g.6467818C= | CA1151516162 | PLEKHG5 | c.3011+7G= (n.3011+7G=) c.3185+7G= (n.3185+7G=) c.3122+7G= (n.3122+7G=) n.3487+7G= c.3218+7G= (n.3218+7G=) c.3308+7G= (n.3308+7G=) c.*3223+7G= (n.*3223+7G=) c.2318+7G= (n.2318+7G=) c.*2839+7G= (n.*2839+7G=) c.891G= (n.891G=) c.*18+7G= (n.*18+7G=) c.2549+7G= (n.2549+7G=) c.3242+7G= (n.3242+7G=) c.3179+7G= (n.3179+7G=) n.2213+7G= c.3248+7G= (n.3248+7G=) | |
| 1 | g.6467818C>T | CA17233102 | PLEKHG5 | c.3011+7G>A (n.3011+7G>A) c.3185+7G>A (n.3185+7G>A) c.3122+7G>A (n.3122+7G>A) n.3487+7G>A c.3218+7G>A (n.3218+7G>A) c.3308+7G>A (n.3308+7G>A) c.*3223+7G>A (n.*3223+7G>A) c.2318+7G>A (n.2318+7G>A) c.*2839+7G>A (n.*2839+7G>A) c.891G>A (n.891G>A) c.*18+7G>A (n.*18+7G>A) c.2549+7G>A (n.2549+7G>A) c.3242+7G>A (n.3242+7G>A) c.3179+7G>A (n.3179+7G>A) n.2213+7G>A c.3248+7G>A (n.3248+7G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467819A= | CA1151516165 | PLEKHG5 | c.3011+6T= (n.3011+6T=) c.3185+6T= (n.3185+6T=) c.3122+6T= (n.3122+6T=) n.3487+6T= c.3218+6T= (n.3218+6T=) c.3308+6T= (n.3308+6T=) c.*3223+6T= (n.*3223+6T=) c.2318+6T= (n.2318+6T=) c.*2839+6T= (n.*2839+6T=) c.890T= (n.890T=) c.*18+6T= (n.*18+6T=) c.2549+6T= (n.2549+6T=) c.3242+6T= (n.3242+6T=) c.3179+6T= (n.3179+6T=) n.2213+6T= c.3248+6T= (n.3248+6T=) | |
| 1 | g.6467819A>G | CA915941104 | PLEKHG5 | c.3011+6T>C (n.3011+6T>C) c.3185+6T>C (n.3185+6T>C) c.3122+6T>C (n.3122+6T>C) n.3487+6T>C c.3218+6T>C (n.3218+6T>C) c.3308+6T>C (n.3308+6T>C) c.*3223+6T>C (n.*3223+6T>C) c.2318+6T>C (n.2318+6T>C) c.*2839+6T>C (n.*2839+6T>C) c.890T>C (n.890T>C) c.*18+6T>C (n.*18+6T>C) c.2549+6T>C (n.2549+6T>C) c.3242+6T>C (n.3242+6T>C) c.3179+6T>C (n.3179+6T>C) n.2213+6T>C c.3248+6T>C (n.3248+6T>C) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6467822C= | CA1151516168 | PLEKHG5 | c.3011+3G= (n.3011+3G=) c.3185+3G= (n.3185+3G=) c.3122+3G= (n.3122+3G=) n.3487+3G= c.3218+3G= (n.3218+3G=) c.3308+3G= (n.3308+3G=) c.*3223+3G= (n.*3223+3G=) c.2318+3G= (n.2318+3G=) c.*2839+3G= (n.*2839+3G=) c.887G= (p.Ter296=) c.*18+3G= (n.*18+3G=) c.2549+3G= (n.2549+3G=) c.3242+3G= (n.3242+3G=) c.3179+3G= (n.3179+3G=) n.2213+3G= c.3248+3G= (n.3248+3G=) | |
| 1 | g.6467822C>T | CA17233110 | PLEKHG5 | c.3011+3G>A (n.3011+3G>A) c.3185+3G>A (n.3185+3G>A) c.3122+3G>A (n.3122+3G>A) n.3487+3G>A c.3218+3G>A (n.3218+3G>A) c.3308+3G>A (n.3308+3G>A) c.*3223+3G>A (n.*3223+3G>A) c.2318+3G>A (n.2318+3G>A) c.*2839+3G>A (n.*2839+3G>A) c.887G>A (p.Ter296=) c.*18+3G>A (n.*18+3G>A) c.2549+3G>A (n.2549+3G>A) c.3242+3G>A (n.3242+3G>A) c.3179+3G>A (n.3179+3G>A) n.2213+3G>A c.3248+3G>A (n.3248+3G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467823A>C | CA338113259 | PLEKHG5 | c.3011+2T>G (n.3011+2T>G) c.3185+2T>G (n.3185+2T>G) c.3122+2T>G (n.3122+2T>G) n.3487+2T>G c.3218+2T>G (n.3218+2T>G) c.3308+2T>G (n.3308+2T>G) c.*3223+2T>G (n.*3223+2T>G) c.2318+2T>G (n.2318+2T>G) c.*2839+2T>G (n.*2839+2T>G) c.886T>G (p.Ter296Gly) c.*18+2T>G (n.*18+2T>G) c.2549+2T>G (n.2549+2T>G) c.3242+2T>G (n.3242+2T>G) c.3179+2T>G (n.3179+2T>G) n.2213+2T>G c.3248+2T>G (n.3248+2T>G) | |
| 1 | g.6467823A>G | CA338113260 | PLEKHG5 | c.3011+2T>C (n.3011+2T>C) c.3185+2T>C (n.3185+2T>C) c.3122+2T>C (n.3122+2T>C) n.3487+2T>C c.3218+2T>C (n.3218+2T>C) c.3308+2T>C (n.3308+2T>C) c.*3223+2T>C (n.*3223+2T>C) c.2318+2T>C (n.2318+2T>C) c.*2839+2T>C (n.*2839+2T>C) c.886T>C (p.Ter296Arg) c.*18+2T>C (n.*18+2T>C) c.2549+2T>C (n.2549+2T>C) c.3242+2T>C (n.3242+2T>C) c.3179+2T>C (n.3179+2T>C) n.2213+2T>C c.3248+2T>C (n.3248+2T>C) | |
| 1 | g.6467823A>T | CA338113261 | PLEKHG5 | c.3011+2T>A (n.3011+2T>A) c.3185+2T>A (n.3185+2T>A) c.3122+2T>A (n.3122+2T>A) n.3487+2T>A c.3218+2T>A (n.3218+2T>A) c.3308+2T>A (n.3308+2T>A) c.*3223+2T>A (n.*3223+2T>A) c.2318+2T>A (n.2318+2T>A) c.*2839+2T>A (n.*2839+2T>A) c.886T>A (p.Ter296Arg) c.*18+2T>A (n.*18+2T>A) c.2549+2T>A (n.2549+2T>A) c.3242+2T>A (n.3242+2T>A) c.3179+2T>A (n.3179+2T>A) n.2213+2T>A c.3248+2T>A (n.3248+2T>A) | |
| 1 | g.6467824C>A | CA338113262 | PLEKHG5 | c.3011+1G>T (n.3011+1G>T) c.3185+1G>T (n.3185+1G>T) c.3122+1G>T (n.3122+1G>T) n.3487+1G>T c.3218+1G>T (n.3218+1G>T) c.3308+1G>T (n.3308+1G>T) c.*3223+1G>T (n.*3223+1G>T) c.2318+1G>T (n.2318+1G>T) c.*2839+1G>T (n.*2839+1G>T) c.885G>T (p.Ser295=) c.*18+1G>T (n.*18+1G>T) c.2549+1G>T (n.2549+1G>T) c.3242+1G>T (n.3242+1G>T) c.3179+1G>T (n.3179+1G>T) n.2213+1G>T c.3248+1G>T (n.3248+1G>T) | gnomAD v4 |
| 1 | g.6467824C= | CA1151516171 | PLEKHG5 | c.3011+1G= (n.3011+1G=) c.3185+1G= (n.3185+1G=) c.3122+1G= (n.3122+1G=) n.3487+1G= c.3218+1G= (n.3218+1G=) c.3308+1G= (n.3308+1G=) c.*3223+1G= (n.*3223+1G=) c.2318+1G= (n.2318+1G=) c.*2839+1G= (n.*2839+1G=) c.885G= (p.Ser295=) c.*18+1G= (n.*18+1G=) c.2549+1G= (n.2549+1G=) c.3242+1G= (n.3242+1G=) c.3179+1G= (n.3179+1G=) n.2213+1G= c.3248+1G= (n.3248+1G=) | |
| 1 | g.6467824C>G | CA338113263 | PLEKHG5 | c.3011+1G>C (n.3011+1G>C) c.3185+1G>C (n.3185+1G>C) c.3122+1G>C (n.3122+1G>C) n.3487+1G>C c.3218+1G>C (n.3218+1G>C) c.3308+1G>C (n.3308+1G>C) c.*3223+1G>C (n.*3223+1G>C) c.2318+1G>C (n.2318+1G>C) c.*2839+1G>C (n.*2839+1G>C) c.885G>C (p.Ser295=) c.*18+1G>C (n.*18+1G>C) c.2549+1G>C (n.2549+1G>C) c.3242+1G>C (n.3242+1G>C) c.3179+1G>C (n.3179+1G>C) n.2213+1G>C c.3248+1G>C (n.3248+1G>C) | dbSNP gnomAD v4 |
| 1 | g.6467824C>T | CA338113265 | PLEKHG5 | c.3011+1G>A (n.3011+1G>A) c.3185+1G>A (n.3185+1G>A) c.3122+1G>A (n.3122+1G>A) n.3487+1G>A c.3218+1G>A (n.3218+1G>A) c.3308+1G>A (n.3308+1G>A) c.*3223+1G>A (n.*3223+1G>A) c.2318+1G>A (n.2318+1G>A) c.*2839+1G>A (n.*2839+1G>A) c.885G>A (p.Ser295=) c.*18+1G>A (n.*18+1G>A) c.2549+1G>A (n.2549+1G>A) c.3242+1G>A (n.3242+1G>A) c.3179+1G>A (n.3179+1G>A) n.2213+1G>A c.3248+1G>A (n.3248+1G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467825G>A | CA561050 | PLEKHG5 | c.3011C>T (p.Ser1004Leu) c.3185C>T (p.Ser1062Leu) c.3122C>T (p.Ser1041Leu) n.3487C>T c.3218C>T (p.Ser1073Leu) c.3308C>T (p.Ser1103Leu) c.*3223C>T (n.*3223C>T) c.2318C>T (p.Ser773Leu) c.*2839C>T (n.*2839C>T) c.884C>T (p.Ser295Leu) c.*18C>T (n.*18C>T) c.2549C>T (p.Ser850Leu) c.3242C>T (p.Ser1081Leu) c.3179C>T (p.Ser1060Leu) n.2213C>T c.3248C>T (p.Ser1083Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467825G>C | CA338113266 | PLEKHG5 | c.3011C>G (p.Ser1004Trp) c.3185C>G (p.Ser1062Trp) c.3122C>G (p.Ser1041Trp) n.3487C>G c.3218C>G (p.Ser1073Trp) c.3308C>G (p.Ser1103Trp) c.*3223C>G (n.*3223C>G) c.2318C>G (p.Ser773Trp) c.*2839C>G (n.*2839C>G) c.884C>G (p.Ser295Trp) c.*18C>G (n.*18C>G) c.2549C>G (p.Ser850Trp) c.3242C>G (p.Ser1081Trp) c.3179C>G (p.Ser1060Trp) n.2213C>G c.3248C>G (p.Ser1083Trp) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467825G= | CA1148377178 | PLEKHG5 | c.3011C= (p.Ser1004=) c.3185C= (p.Ser1062=) c.3122C= (p.Ser1041=) n.3487C= c.3218C= (p.Ser1073=) c.3308C= (p.Ser1103=) c.*3223C= (n.*3223C=) c.2318C= (p.Ser773=) c.*2839C= (n.*2839C=) c.884C= (p.Ser295=) c.*18C= (n.*18C=) c.2549C= (p.Ser850=) c.3242C= (p.Ser1081=) c.3179C= (p.Ser1060=) n.2213C= c.3248C= (p.Ser1083=) | |
| 1 | g.6467825G>T | CA338113268 | PLEKHG5 | c.3011C>A (p.Ser1004Ter) c.3185C>A (p.Ser1062Ter) c.3122C>A (p.Ser1041Ter) n.3487C>A c.3218C>A (p.Ser1073Ter) c.3308C>A (p.Ser1103Ter) c.*3223C>A (n.*3223C>A) c.2318C>A (p.Ser773Ter) c.*2839C>A (n.*2839C>A) c.884C>A (p.Ser295Ter) c.*18C>A (n.*18C>A) c.2549C>A (p.Ser850Ter) c.3242C>A (p.Ser1081Ter) c.3179C>A (p.Ser1060Ter) n.2213C>A c.3248C>A (p.Ser1083Ter) | |
| 1 | g.6467826A>C | CA338113273 | PLEKHG5 | c.3010T>G (p.Ser1004Ala) c.3184T>G (p.Ser1062Ala) c.3121T>G (p.Ser1041Ala) n.3486T>G c.3217T>G (p.Ser1073Ala) c.3307T>G (p.Ser1103Ala) c.*3222T>G (n.*3222T>G) c.2317T>G (p.Ser773Ala) c.*2838T>G (n.*2838T>G) c.883T>G (p.Ser295Ala) c.*17T>G (n.*17T>G) c.2548T>G (p.Ser850Ala) c.3241T>G (p.Ser1081Ala) c.3178T>G (p.Ser1060Ala) n.2212T>G c.3247T>G (p.Ser1083Ala) | |
| 1 | g.6467826A>G | CA338113270 | PLEKHG5 | c.3010T>C (p.Ser1004Pro) c.3184T>C (p.Ser1062Pro) c.3121T>C (p.Ser1041Pro) n.3486T>C c.3217T>C (p.Ser1073Pro) c.3307T>C (p.Ser1103Pro) c.*3222T>C (n.*3222T>C) c.2317T>C (p.Ser773Pro) c.*2838T>C (n.*2838T>C) c.883T>C (p.Ser295Pro) c.*17T>C (n.*17T>C) c.2548T>C (p.Ser850Pro) c.3241T>C (p.Ser1081Pro) c.3178T>C (p.Ser1060Pro) n.2212T>C c.3247T>C (p.Ser1083Pro) | |
| 1 | g.6467826A>T | CA338113272 | PLEKHG5 | c.3010T>A (p.Ser1004Thr) c.3184T>A (p.Ser1062Thr) c.3121T>A (p.Ser1041Thr) n.3486T>A c.3217T>A (p.Ser1073Thr) c.3307T>A (p.Ser1103Thr) c.*3222T>A (n.*3222T>A) c.2317T>A (p.Ser773Thr) c.*2838T>A (n.*2838T>A) c.883T>A (p.Ser295Thr) c.*17T>A (n.*17T>A) c.2548T>A (p.Ser850Thr) c.3241T>A (p.Ser1081Thr) c.3178T>A (p.Ser1060Thr) n.2212T>A c.3247T>A (p.Ser1083Thr) | |
| 1 | g.6467827G>A | CA416021783 | PLEKHG5 | c.3009C>T (p.Ala1003=) c.3183C>T (p.Ala1061=) c.3120C>T (p.Ala1040=) n.3485C>T c.3216C>T (p.Ala1072=) c.3306C>T (p.Ala1102=) c.*3221C>T (n.*3221C>T) c.2316C>T (p.Ala772=) c.*2837C>T (n.*2837C>T) c.882C>T (p.Ala294=) c.*16C>T (n.*16C>T) c.2547C>T (p.Ala849=) c.3240C>T (p.Ala1080=) c.3177C>T (p.Ala1059=) n.2211C>T c.3246C>T (p.Ala1082=) | gnomAD v4 |
| 1 | g.6467827G>C | CA416021784 | PLEKHG5 | c.3009C>G (p.Ala1003=) c.3183C>G (p.Ala1061=) c.3120C>G (p.Ala1040=) n.3485C>G c.3216C>G (p.Ala1072=) c.3306C>G (p.Ala1102=) c.*3221C>G (n.*3221C>G) c.2316C>G (p.Ala772=) c.*2837C>G (n.*2837C>G) c.882C>G (p.Ala294=) c.*16C>G (n.*16C>G) c.2547C>G (p.Ala849=) c.3240C>G (p.Ala1080=) c.3177C>G (p.Ala1059=) n.2211C>G c.3246C>G (p.Ala1082=) | |
| 1 | g.6467827G>T | CA416021785 | PLEKHG5 | c.3009C>A (p.Ala1003=) c.3183C>A (p.Ala1061=) c.3120C>A (p.Ala1040=) n.3485C>A c.3216C>A (p.Ala1072=) c.3306C>A (p.Ala1102=) c.*3221C>A (n.*3221C>A) c.2316C>A (p.Ala772=) c.*2837C>A (n.*2837C>A) c.882C>A (p.Ala294=) c.*16C>A (n.*16C>A) c.2547C>A (p.Ala849=) c.3240C>A (p.Ala1080=) c.3177C>A (p.Ala1059=) n.2211C>A c.3246C>A (p.Ala1082=) | |
| 1 | g.6467828G>A | CA338113275 | PLEKHG5 | c.3008C>T (p.Ala1003Val) c.3182C>T (p.Ala1061Val) c.3119C>T (p.Ala1040Val) n.3484C>T c.3215C>T (p.Ala1072Val) c.3305C>T (p.Ala1102Val) c.*3220C>T (n.*3220C>T) c.2315C>T (p.Ala772Val) c.*2836C>T (n.*2836C>T) c.881C>T (p.Ala294Val) c.*15C>T (n.*15C>T) c.2546C>T (p.Ala849Val) c.3239C>T (p.Ala1080Val) c.3176C>T (p.Ala1059Val) n.2210C>T c.3245C>T (p.Ala1082Val) | ClinVar |
| 1 | g.6467828G>C | CA338113279 | PLEKHG5 | c.3008C>G (p.Ala1003Gly) c.3182C>G (p.Ala1061Gly) c.3119C>G (p.Ala1040Gly) n.3484C>G c.3215C>G (p.Ala1072Gly) c.3305C>G (p.Ala1102Gly) c.*3220C>G (n.*3220C>G) c.2315C>G (p.Ala772Gly) c.*2836C>G (n.*2836C>G) c.881C>G (p.Ala294Gly) c.*15C>G (n.*15C>G) c.2546C>G (p.Ala849Gly) c.3239C>G (p.Ala1080Gly) c.3176C>G (p.Ala1059Gly) n.2210C>G c.3245C>G (p.Ala1082Gly) | |
| 1 | g.6467828G>T | CA338113277 | PLEKHG5 | c.3008C>A (p.Ala1003Asp) c.3182C>A (p.Ala1061Asp) c.3119C>A (p.Ala1040Asp) n.3484C>A c.3215C>A (p.Ala1072Asp) c.3305C>A (p.Ala1102Asp) c.*3220C>A (n.*3220C>A) c.2315C>A (p.Ala772Asp) c.*2836C>A (n.*2836C>A) c.881C>A (p.Ala294Asp) c.*15C>A (n.*15C>A) c.2546C>A (p.Ala849Asp) c.3239C>A (p.Ala1080Asp) c.3176C>A (p.Ala1059Asp) n.2210C>A c.3245C>A (p.Ala1082Asp) | |
| 1 | g.6467829C>A | CA338113280 | PLEKHG5 | c.3007G>T (p.Ala1003Ser) c.3181G>T (p.Ala1061Ser) c.3118G>T (p.Ala1040Ser) n.3483G>T c.3214G>T (p.Ala1072Ser) c.3304G>T (p.Ala1102Ser) c.*3219G>T (n.*3219G>T) c.2314G>T (p.Ala772Ser) c.*2835G>T (n.*2835G>T) c.880G>T (p.Ala294Ser) c.*14G>T (n.*14G>T) c.2545G>T (p.Ala849Ser) c.3238G>T (p.Ala1080Ser) c.3175G>T (p.Ala1059Ser) n.2209G>T c.3244G>T (p.Ala1082Ser) | |
| 1 | g.6467829C= | CA1151516180 | PLEKHG5 | c.3007G= (p.Ala1003=) c.3181G= (p.Ala1061=) c.3118G= (p.Ala1040=) n.3483G= c.3214G= (p.Ala1072=) c.3304G= (p.Ala1102=) c.*3219G= (n.*3219G=) c.2314G= (p.Ala772=) c.*2835G= (n.*2835G=) c.880G= (p.Ala294=) c.*14G= (n.*14G=) c.2545G= (p.Ala849=) c.3238G= (p.Ala1080=) c.3175G= (p.Ala1059=) n.2209G= c.3244G= (p.Ala1082=) | |
| 1 | g.6467829C>G | CA338113282 | PLEKHG5 | c.3007G>C (p.Ala1003Pro) c.3181G>C (p.Ala1061Pro) c.3118G>C (p.Ala1040Pro) n.3483G>C c.3214G>C (p.Ala1072Pro) c.3304G>C (p.Ala1102Pro) c.*3219G>C (n.*3219G>C) c.2314G>C (p.Ala772Pro) c.*2835G>C (n.*2835G>C) c.880G>C (p.Ala294Pro) c.*14G>C (n.*14G>C) c.2545G>C (p.Ala849Pro) c.3238G>C (p.Ala1080Pro) c.3175G>C (p.Ala1059Pro) n.2209G>C c.3244G>C (p.Ala1082Pro) | |
| 1 | g.6467829C>T | CA338113283 | PLEKHG5 | c.3007G>A (p.Ala1003Thr) c.3181G>A (p.Ala1061Thr) c.3118G>A (p.Ala1040Thr) n.3483G>A c.3214G>A (p.Ala1072Thr) c.3304G>A (p.Ala1102Thr) c.*3219G>A (n.*3219G>A) c.2314G>A (p.Ala772Thr) c.*2835G>A (n.*2835G>A) c.880G>A (p.Ala294Thr) c.*14G>A (n.*14G>A) c.2545G>A (p.Ala849Thr) c.3238G>A (p.Ala1080Thr) c.3175G>A (p.Ala1059Thr) n.2209G>A c.3244G>A (p.Ala1082Thr) | dbSNP |
| 1 | g.6467830A>C | CA416021786 | PLEKHG5 | c.3006T>G (p.Thr1002=) c.3180T>G (p.Thr1060=) c.3117T>G (p.Thr1039=) n.3482T>G c.3213T>G (p.Thr1071=) c.3303T>G (p.Thr1101=) c.*3218T>G (n.*3218T>G) c.2313T>G (p.Thr771=) c.*2834T>G (n.*2834T>G) c.879T>G (p.Thr293=) c.*13T>G (n.*13T>G) c.2544T>G (p.Thr848=) c.3237T>G (p.Thr1079=) c.3174T>G (p.Thr1058=) n.2208T>G c.3243T>G (p.Thr1081=) | |
| 1 | g.6467830A>G | CA416021787 | PLEKHG5 | c.3006T>C (p.Thr1002=) c.3180T>C (p.Thr1060=) c.3117T>C (p.Thr1039=) n.3482T>C c.3213T>C (p.Thr1071=) c.3303T>C (p.Thr1101=) c.*3218T>C (n.*3218T>C) c.2313T>C (p.Thr771=) c.*2834T>C (n.*2834T>C) c.879T>C (p.Thr293=) c.*13T>C (n.*13T>C) c.2544T>C (p.Thr848=) c.3237T>C (p.Thr1079=) c.3174T>C (p.Thr1058=) n.2208T>C c.3243T>C (p.Thr1081=) | |
| 1 | g.6467830A>T | CA416021788 | PLEKHG5 | c.3006T>A (p.Thr1002=) c.3180T>A (p.Thr1060=) c.3117T>A (p.Thr1039=) n.3482T>A c.3213T>A (p.Thr1071=) c.3303T>A (p.Thr1101=) c.*3218T>A (n.*3218T>A) c.2313T>A (p.Thr771=) c.*2834T>A (n.*2834T>A) c.879T>A (p.Thr293=) c.*13T>A (n.*13T>A) c.2544T>A (p.Thr848=) c.3237T>A (p.Thr1079=) c.3174T>A (p.Thr1058=) n.2208T>A c.3243T>A (p.Thr1081=) | |
| 1 | g.6467831G>A | CA338113285 | PLEKHG5 | c.3005C>T (p.Thr1002Ile) c.3179C>T (p.Thr1060Ile) c.3116C>T (p.Thr1039Ile) n.3481C>T c.3212C>T (p.Thr1071Ile) c.3302C>T (p.Thr1101Ile) c.*3217C>T (n.*3217C>T) c.2312C>T (p.Thr771Ile) c.*2833C>T (n.*2833C>T) c.878C>T (p.Thr293Ile) c.*12C>T (n.*12C>T) c.2543C>T (p.Thr848Ile) c.3236C>T (p.Thr1079Ile) c.3173C>T (p.Thr1058Ile) n.2207C>T c.3242C>T (p.Thr1081Ile) | dbSNP |
| 1 | g.6467831G>C | CA338113287 | PLEKHG5 | c.3005C>G (p.Thr1002Ser) c.3179C>G (p.Thr1060Ser) c.3116C>G (p.Thr1039Ser) n.3481C>G c.3212C>G (p.Thr1071Ser) c.3302C>G (p.Thr1101Ser) c.*3217C>G (n.*3217C>G) c.2312C>G (p.Thr771Ser) c.*2833C>G (n.*2833C>G) c.878C>G (p.Thr293Ser) c.*12C>G (n.*12C>G) c.2543C>G (p.Thr848Ser) c.3236C>G (p.Thr1079Ser) c.3173C>G (p.Thr1058Ser) n.2207C>G c.3242C>G (p.Thr1081Ser) | gnomAD v4 |
| 1 | g.6467831G= | CA1151516186 | PLEKHG5 | c.3005C= (p.Thr1002=) c.3179C= (p.Thr1060=) c.3116C= (p.Thr1039=) n.3481C= c.3212C= (p.Thr1071=) c.3302C= (p.Thr1101=) c.*3217C= (n.*3217C=) c.2312C= (p.Thr771=) c.*2833C= (n.*2833C=) c.878C= (p.Thr293=) c.*12C= (n.*12C=) c.2543C= (p.Thr848=) c.3236C= (p.Thr1079=) c.3173C= (p.Thr1058=) n.2207C= c.3242C= (p.Thr1081=) | |
| 1 | g.6467831G>T | CA338113288 | PLEKHG5 | c.3005C>A (p.Thr1002Asn) c.3179C>A (p.Thr1060Asn) c.3116C>A (p.Thr1039Asn) n.3481C>A c.3212C>A (p.Thr1071Asn) c.3302C>A (p.Thr1101Asn) c.*3217C>A (n.*3217C>A) c.2312C>A (p.Thr771Asn) c.*2833C>A (n.*2833C>A) c.878C>A (p.Thr293Asn) c.*12C>A (n.*12C>A) c.2543C>A (p.Thr848Asn) c.3236C>A (p.Thr1079Asn) c.3173C>A (p.Thr1058Asn) n.2207C>A c.3242C>A (p.Thr1081Asn) | |
| 1 | g.6467832T>A | CA338113290 | PLEKHG5 | c.3004A>T (p.Thr1002Ser) c.3178A>T (p.Thr1060Ser) c.3115A>T (p.Thr1039Ser) n.3480A>T c.3211A>T (p.Thr1071Ser) c.3301A>T (p.Thr1101Ser) c.*3216A>T (n.*3216A>T) c.2311A>T (p.Thr771Ser) c.*2832A>T (n.*2832A>T) c.877A>T (p.Thr293Ser) c.*11A>T (n.*11A>T) c.2542A>T (p.Thr848Ser) c.3235A>T (p.Thr1079Ser) c.3172A>T (p.Thr1058Ser) n.2206A>T c.3241A>T (p.Thr1081Ser) | |
| 1 | g.6467832T>C | CA338113292 | PLEKHG5 | c.3004A>G (p.Thr1002Ala) c.3178A>G (p.Thr1060Ala) c.3115A>G (p.Thr1039Ala) n.3480A>G c.3211A>G (p.Thr1071Ala) c.3301A>G (p.Thr1101Ala) c.*3216A>G (n.*3216A>G) c.2311A>G (p.Thr771Ala) c.*2832A>G (n.*2832A>G) c.877A>G (p.Thr293Ala) c.*11A>G (n.*11A>G) c.2542A>G (p.Thr848Ala) c.3235A>G (p.Thr1079Ala) c.3172A>G (p.Thr1058Ala) n.2206A>G c.3241A>G (p.Thr1081Ala) | gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6467832T>G | CA338113294 | PLEKHG5 | c.3004A>C (p.Thr1002Pro) c.3178A>C (p.Thr1060Pro) c.3115A>C (p.Thr1039Pro) n.3480A>C c.3211A>C (p.Thr1071Pro) c.3301A>C (p.Thr1101Pro) c.*3216A>C (n.*3216A>C) c.2311A>C (p.Thr771Pro) c.*2832A>C (n.*2832A>C) c.877A>C (p.Thr293Pro) c.*11A>C (n.*11A>C) c.2542A>C (p.Thr848Pro) c.3235A>C (p.Thr1079Pro) c.3172A>C (p.Thr1058Pro) n.2206A>C c.3241A>C (p.Thr1081Pro) | |
| 1 | g.6467833G>A | CA416021794 | PLEKHG5 | c.3003C>T (p.Leu1001=) c.3177C>T (p.Leu1059=) c.3114C>T (p.Leu1038=) n.3479C>T c.3210C>T (p.Leu1070=) c.3300C>T (p.Leu1100=) c.*3215C>T (n.*3215C>T) c.2310C>T (p.Leu770=) c.*2831C>T (n.*2831C>T) c.876C>T (p.Leu292=) c.*10C>T (n.*10C>T) c.2541C>T (p.Leu847=) c.3234C>T (p.Leu1078=) c.3171C>T (p.Leu1057=) n.2205C>T c.3240C>T (p.Leu1080=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467833G>C | CA416021792 | PLEKHG5 | c.3003C>G (p.Leu1001=) c.3177C>G (p.Leu1059=) c.3114C>G (p.Leu1038=) n.3479C>G c.3210C>G (p.Leu1070=) c.3300C>G (p.Leu1100=) c.*3215C>G (n.*3215C>G) c.2310C>G (p.Leu770=) c.*2831C>G (n.*2831C>G) c.876C>G (p.Leu292=) c.*10C>G (n.*10C>G) c.2541C>G (p.Leu847=) c.3234C>G (p.Leu1078=) c.3171C>G (p.Leu1057=) n.2205C>G c.3240C>G (p.Leu1080=) | |
| 1 | g.6467833G= | CA1151516191 | PLEKHG5 | c.3003C= (p.Leu1001=) c.3177C= (p.Leu1059=) c.3114C= (p.Leu1038=) n.3479C= c.3210C= (p.Leu1070=) c.3300C= (p.Leu1100=) c.*3215C= (n.*3215C=) c.2310C= (p.Leu770=) c.*2831C= (n.*2831C=) c.876C= (p.Leu292=) c.*10C= (n.*10C=) c.2541C= (p.Leu847=) c.3234C= (p.Leu1078=) c.3171C= (p.Leu1057=) n.2205C= c.3240C= (p.Leu1080=) | |
| 1 | g.6467833G>T | CA416021791 | PLEKHG5 | c.3003C>A (p.Leu1001=) c.3177C>A (p.Leu1059=) c.3114C>A (p.Leu1038=) n.3479C>A c.3210C>A (p.Leu1070=) c.3300C>A (p.Leu1100=) c.*3215C>A (n.*3215C>A) c.2310C>A (p.Leu770=) c.*2831C>A (n.*2831C>A) c.876C>A (p.Leu292=) c.*10C>A (n.*10C>A) c.2541C>A (p.Leu847=) c.3234C>A (p.Leu1078=) c.3171C>A (p.Leu1057=) n.2205C>A c.3240C>A (p.Leu1080=) | |
| 1 | g.6467836_6467842del | CA2642996095 | PLEKHG5 | c.2997_3003del (p.Thr1000LeufsTer?) c.3171_3177del (p.Thr1058LeufsTer?) c.3108_3114del (p.Thr1037LeufsTer?) n.3473_3479del c.3204_3210del (p.Thr1069LeufsTer?) c.3294_3300del (p.Thr1099LeufsTer?) c.*3209_*3215del (n.*3209_*3215del) c.2304_2310del (p.Thr769LeufsTer?) c.*2825_*2831del (n.*2825_*2831del) c.870_876del (p.Thr291LeufsTer10) c.*4_*10del (n.*4_*10del) c.2535_2541del (p.Thr846LeufsTer?) c.3228_3234del (p.Thr1077LeufsTer?) c.3165_3171del (p.Thr1056LeufsTer?) n.2199_2205del c.3234_3240del (p.Thr1079LeufsTer?) | gnomAD v4 |
| 1 | g.6467834A= | CA1151516194 | PLEKHG5 | c.3002T= (p.Leu1001=) c.3176T= (p.Leu1059=) c.3113T= (p.Leu1038=) n.3478T= c.3209T= (p.Leu1070=) c.3299T= (p.Leu1100=) c.*3214T= (n.*3214T=) c.2309T= (p.Leu770=) c.*2830T= (n.*2830T=) c.875T= (p.Leu292=) c.*9T= (n.*9T=) c.2540T= (p.Leu847=) c.3233T= (p.Leu1078=) c.3170T= (p.Leu1057=) n.2204T= c.3239T= (p.Leu1080=) | |
| 1 | g.6467834A>C | CA338113296 | PLEKHG5 | c.3002T>G (p.Leu1001Arg) c.3176T>G (p.Leu1059Arg) c.3113T>G (p.Leu1038Arg) n.3478T>G c.3209T>G (p.Leu1070Arg) c.3299T>G (p.Leu1100Arg) c.*3214T>G (n.*3214T>G) c.2309T>G (p.Leu770Arg) c.*2830T>G (n.*2830T>G) c.875T>G (p.Leu292Arg) c.*9T>G (n.*9T>G) c.2540T>G (p.Leu847Arg) c.3233T>G (p.Leu1078Arg) c.3170T>G (p.Leu1057Arg) n.2204T>G c.3239T>G (p.Leu1080Arg) | |
| 1 | g.6467834A>G | CA338113297 | PLEKHG5 | c.3002T>C (p.Leu1001Pro) c.3176T>C (p.Leu1059Pro) c.3113T>C (p.Leu1038Pro) n.3478T>C c.3209T>C (p.Leu1070Pro) c.3299T>C (p.Leu1100Pro) c.*3214T>C (n.*3214T>C) c.2309T>C (p.Leu770Pro) c.*2830T>C (n.*2830T>C) c.875T>C (p.Leu292Pro) c.*9T>C (n.*9T>C) c.2540T>C (p.Leu847Pro) c.3233T>C (p.Leu1078Pro) c.3170T>C (p.Leu1057Pro) n.2204T>C c.3239T>C (p.Leu1080Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467834A>T | CA338113299 | PLEKHG5 | c.3002T>A (p.Leu1001His) c.3176T>A (p.Leu1059His) c.3113T>A (p.Leu1038His) n.3478T>A c.3209T>A (p.Leu1070His) c.3299T>A (p.Leu1100His) c.*3214T>A (n.*3214T>A) c.2309T>A (p.Leu770His) c.*2830T>A (n.*2830T>A) c.875T>A (p.Leu292His) c.*9T>A (n.*9T>A) c.2540T>A (p.Leu847His) c.3233T>A (p.Leu1078His) c.3170T>A (p.Leu1057His) n.2204T>A c.3239T>A (p.Leu1080His) | |
| 1 | g.6467835G>A | CA338113302 | PLEKHG5 | c.3001C>T (p.Leu1001Phe) c.3175C>T (p.Leu1059Phe) c.3112C>T (p.Leu1038Phe) n.3477C>T c.3208C>T (p.Leu1070Phe) c.3298C>T (p.Leu1100Phe) c.*3213C>T (n.*3213C>T) c.2308C>T (p.Leu770Phe) c.*2829C>T (n.*2829C>T) c.874C>T (p.Leu292Phe) c.*8C>T (n.*8C>T) c.2539C>T (p.Leu847Phe) c.3232C>T (p.Leu1078Phe) c.3169C>T (p.Leu1057Phe) n.2203C>T c.3238C>T (p.Leu1080Phe) | |
| 1 | g.6467835G>C | CA338113304 | PLEKHG5 | c.3001C>G (p.Leu1001Val) c.3175C>G (p.Leu1059Val) c.3112C>G (p.Leu1038Val) n.3477C>G c.3208C>G (p.Leu1070Val) c.3298C>G (p.Leu1100Val) c.*3213C>G (n.*3213C>G) c.2308C>G (p.Leu770Val) c.*2829C>G (n.*2829C>G) c.874C>G (p.Leu292Val) c.*8C>G (n.*8C>G) c.2539C>G (p.Leu847Val) c.3232C>G (p.Leu1078Val) c.3169C>G (p.Leu1057Val) n.2203C>G c.3238C>G (p.Leu1080Val) | |
| 1 | g.6467835G>T | CA338113303 | PLEKHG5 | c.3001C>A (p.Leu1001Ile) c.3175C>A (p.Leu1059Ile) c.3112C>A (p.Leu1038Ile) n.3477C>A c.3208C>A (p.Leu1070Ile) c.3298C>A (p.Leu1100Ile) c.*3213C>A (n.*3213C>A) c.2308C>A (p.Leu770Ile) c.*2829C>A (n.*2829C>A) c.874C>A (p.Leu292Ile) c.*8C>A (n.*8C>A) c.2539C>A (p.Leu847Ile) c.3232C>A (p.Leu1078Ile) c.3169C>A (p.Leu1057Ile) n.2203C>A c.3238C>A (p.Leu1080Ile) | gnomAD v4 |
| 1 | g.6467836C>A | CA416021795 | PLEKHG5 | c.3000G>T (p.Thr1000=) c.3174G>T (p.Thr1058=) c.3111G>T (p.Thr1037=) n.3476G>T c.3207G>T (p.Thr1069=) c.3297G>T (p.Thr1099=) c.*3212G>T (n.*3212G>T) c.2307G>T (p.Thr769=) c.*2828G>T (n.*2828G>T) c.873G>T (p.Thr291=) c.*7G>T (n.*7G>T) c.2538G>T (p.Thr846=) c.3231G>T (p.Thr1077=) c.3168G>T (p.Thr1056=) n.2202G>T c.3237G>T (p.Thr1079=) | |
| 1 | g.6467836C= | CA1151516199 | PLEKHG5 | c.3000G= (p.Thr1000=) c.3174G= (p.Thr1058=) c.3111G= (p.Thr1037=) n.3476G= c.3207G= (p.Thr1069=) c.3297G= (p.Thr1099=) c.*3212G= (n.*3212G=) c.2307G= (p.Thr769=) c.*2828G= (n.*2828G=) c.873G= (p.Thr291=) c.*7G= (n.*7G=) c.2538G= (p.Thr846=) c.3231G= (p.Thr1077=) c.3168G= (p.Thr1056=) n.2202G= c.3237G= (p.Thr1079=) | |
| 1 | g.6467836C>G | CA416021796 | PLEKHG5 | c.3000G>C (p.Thr1000=) c.3174G>C (p.Thr1058=) c.3111G>C (p.Thr1037=) n.3476G>C c.3207G>C (p.Thr1069=) c.3297G>C (p.Thr1099=) c.*3212G>C (n.*3212G>C) c.2307G>C (p.Thr769=) c.*2828G>C (n.*2828G>C) c.873G>C (p.Thr291=) c.*7G>C (n.*7G>C) c.2538G>C (p.Thr846=) c.3231G>C (p.Thr1077=) c.3168G>C (p.Thr1056=) n.2202G>C c.3237G>C (p.Thr1079=) | gnomAD v4 |
| 1 | g.6467836C>T | CA561051 | PLEKHG5 | c.3000G>A (p.Thr1000=) c.3174G>A (p.Thr1058=) c.3111G>A (p.Thr1037=) n.3476G>A c.3207G>A (p.Thr1069=) c.3297G>A (p.Thr1099=) c.*3212G>A (n.*3212G>A) c.2307G>A (p.Thr769=) c.*2828G>A (n.*2828G>A) c.873G>A (p.Thr291=) c.*7G>A (n.*7G>A) c.2538G>A (p.Thr846=) c.3231G>A (p.Thr1077=) c.3168G>A (p.Thr1056=) n.2202G>A c.3237G>A (p.Thr1079=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467837G>A | CA561052 | PLEKHG5 | c.2999C>T (p.Thr1000Met) c.3173C>T (p.Thr1058Met) c.3110C>T (p.Thr1037Met) n.3475C>T c.3206C>T (p.Thr1069Met) c.3296C>T (p.Thr1099Met) c.*3211C>T (n.*3211C>T) c.2306C>T (p.Thr769Met) c.*2827C>T (n.*2827C>T) c.872C>T (p.Thr291Met) c.*6C>T (n.*6C>T) c.2537C>T (p.Thr846Met) c.3230C>T (p.Thr1077Met) c.3167C>T (p.Thr1056Met) n.2201C>T c.3236C>T (p.Thr1079Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467837G>C | CA338113309 | PLEKHG5 | c.2999C>G (p.Thr1000Arg) c.3173C>G (p.Thr1058Arg) c.3110C>G (p.Thr1037Arg) n.3475C>G c.3206C>G (p.Thr1069Arg) c.3296C>G (p.Thr1099Arg) c.*3211C>G (n.*3211C>G) c.2306C>G (p.Thr769Arg) c.*2827C>G (n.*2827C>G) c.872C>G (p.Thr291Arg) c.*6C>G (n.*6C>G) c.2537C>G (p.Thr846Arg) c.3230C>G (p.Thr1077Arg) c.3167C>G (p.Thr1056Arg) n.2201C>G c.3236C>G (p.Thr1079Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467837G= | CA1151516229 | PLEKHG5 | c.2999C= (p.Thr1000=) c.3173C= (p.Thr1058=) c.3110C= (p.Thr1037=) n.3475C= c.3206C= (p.Thr1069=) c.3296C= (p.Thr1099=) c.*3211C= (n.*3211C=) c.2306C= (p.Thr769=) c.*2827C= (n.*2827C=) c.872C= (p.Thr291=) c.*6C= (n.*6C=) c.2537C= (p.Thr846=) c.3230C= (p.Thr1077=) c.3167C= (p.Thr1056=) n.2201C= c.3236C= (p.Thr1079=) | |
| 1 | g.6467837G>T | CA338113312 | PLEKHG5 | c.2999C>A (p.Thr1000Lys) c.3173C>A (p.Thr1058Lys) c.3110C>A (p.Thr1037Lys) n.3475C>A c.3206C>A (p.Thr1069Lys) c.3296C>A (p.Thr1099Lys) c.*3211C>A (n.*3211C>A) c.2306C>A (p.Thr769Lys) c.*2827C>A (n.*2827C>A) c.872C>A (p.Thr291Lys) c.*6C>A (n.*6C>A) c.2537C>A (p.Thr846Lys) c.3230C>A (p.Thr1077Lys) c.3167C>A (p.Thr1056Lys) n.2201C>A c.3236C>A (p.Thr1079Lys) | gnomAD v4 |
| 1 | g.6467838T>A | CA338113315 | PLEKHG5 | c.2998A>T (p.Thr1000Ser) c.3172A>T (p.Thr1058Ser) c.3109A>T (p.Thr1037Ser) n.3474A>T c.3205A>T (p.Thr1069Ser) c.3295A>T (p.Thr1099Ser) c.*3210A>T (n.*3210A>T) c.2305A>T (p.Thr769Ser) c.*2826A>T (n.*2826A>T) c.871A>T (p.Thr291Ser) c.*5A>T (n.*5A>T) c.2536A>T (p.Thr846Ser) c.3229A>T (p.Thr1077Ser) c.3166A>T (p.Thr1056Ser) n.2200A>T c.3235A>T (p.Thr1079Ser) | |
| 1 | g.6467838T>C | CA338113317 | PLEKHG5 | c.2998A>G (p.Thr1000Ala) c.3172A>G (p.Thr1058Ala) c.3109A>G (p.Thr1037Ala) n.3474A>G c.3205A>G (p.Thr1069Ala) c.3295A>G (p.Thr1099Ala) c.*3210A>G (n.*3210A>G) c.2305A>G (p.Thr769Ala) c.*2826A>G (n.*2826A>G) c.871A>G (p.Thr291Ala) c.*5A>G (n.*5A>G) c.2536A>G (p.Thr846Ala) c.3229A>G (p.Thr1077Ala) c.3166A>G (p.Thr1056Ala) n.2200A>G c.3235A>G (p.Thr1079Ala) | |
| 1 | g.6467838T>G | CA338113320 | PLEKHG5 | c.2998A>C (p.Thr1000Pro) c.3172A>C (p.Thr1058Pro) c.3109A>C (p.Thr1037Pro) n.3474A>C c.3205A>C (p.Thr1069Pro) c.3295A>C (p.Thr1099Pro) c.*3210A>C (n.*3210A>C) c.2305A>C (p.Thr769Pro) c.*2826A>C (n.*2826A>C) c.871A>C (p.Thr291Pro) c.*5A>C (n.*5A>C) c.2536A>C (p.Thr846Pro) c.3229A>C (p.Thr1077Pro) c.3166A>C (p.Thr1056Pro) n.2200A>C c.3235A>C (p.Thr1079Pro) | gnomAD v4 |
| 1 | g.6467839G>A | CA416021798 | PLEKHG5 | c.2997C>T (p.Ser999=) c.3171C>T (p.Ser1057=) c.3108C>T (p.Ser1036=) n.3473C>T c.3204C>T (p.Ser1068=) c.3294C>T (p.Ser1098=) c.*3209C>T (n.*3209C>T) c.2304C>T (p.Ser768=) c.*2825C>T (n.*2825C>T) c.870C>T (p.Ser290=) c.*4C>T (n.*4C>T) c.2535C>T (p.Ser845=) c.3228C>T (p.Ser1076=) c.3165C>T (p.Ser1055=) n.2199C>T c.3234C>T (p.Ser1078=) | |
| 1 | g.6467839G>C | CA416021802 | PLEKHG5 | c.2997C>G (p.Ser999=) c.3171C>G (p.Ser1057=) c.3108C>G (p.Ser1036=) n.3473C>G c.3204C>G (p.Ser1068=) c.3294C>G (p.Ser1098=) c.*3209C>G (n.*3209C>G) c.2304C>G (p.Ser768=) c.*2825C>G (n.*2825C>G) c.870C>G (p.Ser290=) c.*4C>G (n.*4C>G) c.2535C>G (p.Ser845=) c.3228C>G (p.Ser1076=) c.3165C>G (p.Ser1055=) n.2199C>G c.3234C>G (p.Ser1078=) | |
| 1 | g.6467839G>T | CA416021800 | PLEKHG5 | c.2997C>A (p.Ser999=) c.3171C>A (p.Ser1057=) c.3108C>A (p.Ser1036=) n.3473C>A c.3204C>A (p.Ser1068=) c.3294C>A (p.Ser1098=) c.*3209C>A (n.*3209C>A) c.2304C>A (p.Ser768=) c.*2825C>A (n.*2825C>A) c.870C>A (p.Ser290=) c.*4C>A (n.*4C>A) c.2535C>A (p.Ser845=) c.3228C>A (p.Ser1076=) c.3165C>A (p.Ser1055=) n.2199C>A c.3234C>A (p.Ser1078=) | |
| 1 | g.6467840G>A | CA338113323 | PLEKHG5 | c.2996C>T (p.Ser999Phe) c.3170C>T (p.Ser1057Phe) c.3107C>T (p.Ser1036Phe) n.3472C>T c.3203C>T (p.Ser1068Phe) c.3293C>T (p.Ser1098Phe) c.*3208C>T (n.*3208C>T) c.2303C>T (p.Ser768Phe) c.*2824C>T (n.*2824C>T) c.869C>T (p.Ser290Phe) c.*3C>T (n.*3C>T) c.2534C>T (p.Ser845Phe) c.3227C>T (p.Ser1076Phe) c.3164C>T (p.Ser1055Phe) n.2198C>T c.3233C>T (p.Ser1078Phe) | gnomAD v4 |
| 1 | g.6467840G>C | CA338113325 | PLEKHG5 | c.2996C>G (p.Ser999Cys) c.3170C>G (p.Ser1057Cys) c.3107C>G (p.Ser1036Cys) n.3472C>G c.3203C>G (p.Ser1068Cys) c.3293C>G (p.Ser1098Cys) c.*3208C>G (n.*3208C>G) c.2303C>G (p.Ser768Cys) c.*2824C>G (n.*2824C>G) c.869C>G (p.Ser290Cys) c.*3C>G (n.*3C>G) c.2534C>G (p.Ser845Cys) c.3227C>G (p.Ser1076Cys) c.3164C>G (p.Ser1055Cys) n.2198C>G c.3233C>G (p.Ser1078Cys) | |
| 1 | g.6467840G>T | CA338113327 | PLEKHG5 | c.2996C>A (p.Ser999Tyr) c.3170C>A (p.Ser1057Tyr) c.3107C>A (p.Ser1036Tyr) n.3472C>A c.3203C>A (p.Ser1068Tyr) c.3293C>A (p.Ser1098Tyr) c.*3208C>A (n.*3208C>A) c.2303C>A (p.Ser768Tyr) c.*2824C>A (n.*2824C>A) c.869C>A (p.Ser290Tyr) c.*3C>A (n.*3C>A) c.2534C>A (p.Ser845Tyr) c.3227C>A (p.Ser1076Tyr) c.3164C>A (p.Ser1055Tyr) n.2198C>A c.3233C>A (p.Ser1078Tyr) | |
| 1 | g.6467841A>C | CA338113338 | PLEKHG5 | c.2995T>G (p.Ser999Ala) c.3169T>G (p.Ser1057Ala) c.3106T>G (p.Ser1036Ala) n.3471T>G c.3202T>G (p.Ser1068Ala) c.3292T>G (p.Ser1098Ala) c.*3207T>G (n.*3207T>G) c.2302T>G (p.Ser768Ala) c.*2823T>G (n.*2823T>G) c.868T>G (p.Ser290Ala) c.*2T>G (n.*2T>G) c.2533T>G (p.Ser845Ala) c.3226T>G (p.Ser1076Ala) c.3163T>G (p.Ser1055Ala) n.2197T>G c.3232T>G (p.Ser1078Ala) | |
| 1 | g.6467841A>G | CA338113331 | PLEKHG5 | c.2995T>C (p.Ser999Pro) c.3169T>C (p.Ser1057Pro) c.3106T>C (p.Ser1036Pro) n.3471T>C c.3202T>C (p.Ser1068Pro) c.3292T>C (p.Ser1098Pro) c.*3207T>C (n.*3207T>C) c.2302T>C (p.Ser768Pro) c.*2823T>C (n.*2823T>C) c.868T>C (p.Ser290Pro) c.*2T>C (n.*2T>C) c.2533T>C (p.Ser845Pro) c.3226T>C (p.Ser1076Pro) c.3163T>C (p.Ser1055Pro) n.2197T>C c.3232T>C (p.Ser1078Pro) | |
| 1 | g.6467841A>T | CA338113330 | PLEKHG5 | c.2995T>A (p.Ser999Thr) c.3169T>A (p.Ser1057Thr) c.3106T>A (p.Ser1036Thr) n.3471T>A c.3202T>A (p.Ser1068Thr) c.3292T>A (p.Ser1098Thr) c.*3207T>A (n.*3207T>A) c.2302T>A (p.Ser768Thr) c.*2823T>A (n.*2823T>A) c.868T>A (p.Ser290Thr) c.*2T>A (n.*2T>A) c.2533T>A (p.Ser845Thr) c.3226T>A (p.Ser1076Thr) c.3163T>A (p.Ser1055Thr) n.2197T>A c.3232T>A (p.Ser1078Thr) | |
| 1 | g.6467842G>A | CA416021987 | PLEKHG5 | c.2994C>T (p.Asn998=) c.3168C>T (p.Asn1056=) c.3105C>T (p.Asn1035=) n.3470C>T c.3201C>T (p.Asn1067=) c.3291C>T (p.Asn1097=) c.*3206C>T (n.*3206C>T) c.2301C>T (p.Asn767=) c.*2822C>T (n.*2822C>T) c.867C>T (p.Asn289=) c.*1C>T (n.*1C>T) c.2532C>T (p.Asn844=) c.3225C>T (p.Asn1075=) c.3162C>T (p.Asn1054=) n.2196C>T c.3231C>T (p.Asn1077=) | ClinVar |
| 1 | g.6467842G>C | CA338113341 | PLEKHG5 | c.2994C>G (p.Asn998Lys) c.3168C>G (p.Asn1056Lys) c.3105C>G (p.Asn1035Lys) n.3470C>G c.3201C>G (p.Asn1067Lys) c.3291C>G (p.Asn1097Lys) c.*3206C>G (n.*3206C>G) c.2301C>G (p.Asn767Lys) c.*2822C>G (n.*2822C>G) c.867C>G (p.Asn289Lys) c.*1C>G (n.*1C>G) c.2532C>G (p.Asn844Lys) c.3225C>G (p.Asn1075Lys) c.3162C>G (p.Asn1054Lys) n.2196C>G c.3231C>G (p.Asn1077Lys) | |
| 1 | g.6467842G>T | CA338113340 | PLEKHG5 | c.2994C>A (p.Asn998Lys) c.3168C>A (p.Asn1056Lys) c.3105C>A (p.Asn1035Lys) n.3470C>A c.3201C>A (p.Asn1067Lys) c.3291C>A (p.Asn1097Lys) c.*3206C>A (n.*3206C>A) c.2301C>A (p.Asn767Lys) c.*2822C>A (n.*2822C>A) c.867C>A (p.Asn289Lys) c.*1C>A (n.*1C>A) c.2532C>A (p.Asn844Lys) c.3225C>A (p.Asn1075Lys) c.3162C>A (p.Asn1054Lys) n.2196C>A c.3231C>A (p.Asn1077Lys) | |
| 1 | g.6467843T>A | CA338113345 | PLEKHG5 | c.2993A>T (p.Asn998Ile) c.3167A>T (p.Asn1056Ile) c.3104A>T (p.Asn1035Ile) n.3469A>T c.3200A>T (p.Asn1067Ile) c.3290A>T (p.Asn1097Ile) c.*3205A>T (n.*3205A>T) c.2300A>T (p.Asn767Ile) c.*2821A>T (n.*2821A>T) c.866A>T (p.Asn289Ile) c.2793A>T (p.Ter931Tyr) c.2531A>T (p.Asn844Ile) c.3224A>T (p.Asn1075Ile) c.3161A>T (p.Asn1054Ile) n.2195A>T c.3230A>T (p.Asn1077Ile) | |
| 1 | g.6467843T>C | CA338113347 | PLEKHG5 | c.2993A>G (p.Asn998Ser) c.3167A>G (p.Asn1056Ser) c.3104A>G (p.Asn1035Ser) n.3469A>G c.3200A>G (p.Asn1067Ser) c.3290A>G (p.Asn1097Ser) c.*3205A>G (n.*3205A>G) c.2300A>G (p.Asn767Ser) c.*2821A>G (n.*2821A>G) c.866A>G (p.Asn289Ser) c.2793A>G (p.Ter931=) c.2531A>G (p.Asn844Ser) c.3224A>G (p.Asn1075Ser) c.3161A>G (p.Asn1054Ser) n.2195A>G c.3230A>G (p.Asn1077Ser) | |
| 1 | g.6467843T>G | CA338113349 | PLEKHG5 | c.2993A>C (p.Asn998Thr) c.3167A>C (p.Asn1056Thr) c.3104A>C (p.Asn1035Thr) n.3469A>C c.3200A>C (p.Asn1067Thr) c.3290A>C (p.Asn1097Thr) c.*3205A>C (n.*3205A>C) c.2300A>C (p.Asn767Thr) c.*2821A>C (n.*2821A>C) c.866A>C (p.Asn289Thr) c.2793A>C (p.Ter931Tyr) c.2531A>C (p.Asn844Thr) c.3224A>C (p.Asn1075Thr) c.3161A>C (p.Asn1054Thr) n.2195A>C c.3230A>C (p.Asn1077Thr) | |
| 1 | g.6467844T>A | CA338113352 | PLEKHG5 | c.2992A>T (p.Asn998Tyr) c.3166A>T (p.Asn1056Tyr) c.3103A>T (p.Asn1035Tyr) n.3468A>T c.3199A>T (p.Asn1067Tyr) c.3289A>T (p.Asn1097Tyr) c.*3204A>T (n.*3204A>T) c.2299A>T (p.Asn767Tyr) c.*2820A>T (n.*2820A>T) c.865A>T (p.Asn289Tyr) c.2792A>T (p.Ter931Leu) c.2530A>T (p.Asn844Tyr) c.3223A>T (p.Asn1075Tyr) c.3160A>T (p.Asn1054Tyr) n.2194A>T c.3229A>T (p.Asn1077Tyr) | |
| 1 | g.6467844T>C | CA338113354 | PLEKHG5 | c.2992A>G (p.Asn998Asp) c.3166A>G (p.Asn1056Asp) c.3103A>G (p.Asn1035Asp) n.3468A>G c.3199A>G (p.Asn1067Asp) c.3289A>G (p.Asn1097Asp) c.*3204A>G (n.*3204A>G) c.2299A>G (p.Asn767Asp) c.*2820A>G (n.*2820A>G) c.865A>G (p.Asn289Asp) c.2792A>G (p.Ter931=) c.2530A>G (p.Asn844Asp) c.3223A>G (p.Asn1075Asp) c.3160A>G (p.Asn1054Asp) n.2194A>G c.3229A>G (p.Asn1077Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467844T>G | CA338113357 | PLEKHG5 | c.2992A>C (p.Asn998His) c.3166A>C (p.Asn1056His) c.3103A>C (p.Asn1035His) n.3468A>C c.3199A>C (p.Asn1067His) c.3289A>C (p.Asn1097His) c.*3204A>C (n.*3204A>C) c.2299A>C (p.Asn767His) c.*2820A>C (n.*2820A>C) c.865A>C (p.Asn289His) c.2792A>C (p.Ter931Ser) c.2530A>C (p.Asn844His) c.3223A>C (p.Asn1075His) c.3160A>C (p.Asn1054His) n.2194A>C c.3229A>C (p.Asn1077His) | |
| 1 | g.6467844T= | CA1151516244 | PLEKHG5 | c.2992A= (p.Asn998=) c.3166A= (p.Asn1056=) c.3103A= (p.Asn1035=) n.3468A= c.3199A= (p.Asn1067=) c.3289A= (p.Asn1097=) c.*3204A= (n.*3204A=) c.2299A= (p.Asn767=) c.*2820A= (n.*2820A=) c.865A= (p.Asn289=) c.2792A= (p.Ter931=) c.2530A= (p.Asn844=) c.3223A= (p.Asn1075=) c.3160A= (p.Asn1054=) n.2194A= c.3229A= (p.Asn1077=) | |
| 1 | g.6467845A>C | CA338113359 | PLEKHG5 | c.2991T>G (p.Leu997=) c.3165T>G (p.Leu1055=) c.3102T>G (p.Leu1034=) n.3467T>G c.3198T>G (p.Leu1066=) c.3288T>G (p.Leu1096=) c.*3203T>G (n.*3203T>G) c.2298T>G (p.Leu766=) c.*2819T>G (n.*2819T>G) c.864T>G (p.Leu288=) c.2791T>G (p.Ter931Glu) c.2529T>G (p.Leu843=) c.3222T>G (p.Leu1074=) c.3159T>G (p.Leu1053=) n.2193T>G c.3228T>G (p.Leu1076=) | gnomAD v4 |
| 1 | g.6467845A>G | CA338113362 | PLEKHG5 | c.2991T>C (p.Leu997=) c.3165T>C (p.Leu1055=) c.3102T>C (p.Leu1034=) n.3467T>C c.3198T>C (p.Leu1066=) c.3288T>C (p.Leu1096=) c.*3203T>C (n.*3203T>C) c.2298T>C (p.Leu766=) c.*2819T>C (n.*2819T>C) c.864T>C (p.Leu288=) c.2791T>C (p.Ter931Gln) c.2529T>C (p.Leu843=) c.3222T>C (p.Leu1074=) c.3159T>C (p.Leu1053=) n.2193T>C c.3228T>C (p.Leu1076=) | |
| 1 | g.6467845A>T | CA338113364 | PLEKHG5 | c.2991T>A (p.Leu997=) c.3165T>A (p.Leu1055=) c.3102T>A (p.Leu1034=) n.3467T>A c.3198T>A (p.Leu1066=) c.3288T>A (p.Leu1096=) c.*3203T>A (n.*3203T>A) c.2298T>A (p.Leu766=) c.*2819T>A (n.*2819T>A) c.864T>A (p.Leu288=) c.2791T>A (p.Ter931Lys) c.2529T>A (p.Leu843=) c.3222T>A (p.Leu1074=) c.3159T>A (p.Leu1053=) n.2193T>A c.3228T>A (p.Leu1076=) | |
| 1 | g.6467846A>C | CA338113368 | PLEKHG5 | c.2990T>G (p.Leu997Arg) c.3164T>G (p.Leu1055Arg) c.3101T>G (p.Leu1034Arg) n.3466T>G c.3197T>G (p.Leu1066Arg) c.3287T>G (p.Leu1096Arg) c.*3202T>G (n.*3202T>G) c.2297T>G (p.Leu766Arg) c.*2818T>G (n.*2818T>G) c.863T>G (p.Leu288Arg) c.2790T>G (p.Ala930=) c.2528T>G (p.Leu843Arg) c.3221T>G (p.Leu1074Arg) c.3158T>G (p.Leu1053Arg) n.2192T>G c.3227T>G (p.Leu1076Arg) | |
| 1 | g.6467846A>G | CA338113371 | PLEKHG5 | c.2990T>C (p.Leu997Pro) c.3164T>C (p.Leu1055Pro) c.3101T>C (p.Leu1034Pro) n.3466T>C c.3197T>C (p.Leu1066Pro) c.3287T>C (p.Leu1096Pro) c.*3202T>C (n.*3202T>C) c.2297T>C (p.Leu766Pro) c.*2818T>C (n.*2818T>C) c.863T>C (p.Leu288Pro) c.2790T>C (p.Ala930=) c.2528T>C (p.Leu843Pro) c.3221T>C (p.Leu1074Pro) c.3158T>C (p.Leu1053Pro) n.2192T>C c.3227T>C (p.Leu1076Pro) | |
| 1 | g.6467846A>T | CA338113374 | PLEKHG5 | c.2990T>A (p.Leu997His) c.3164T>A (p.Leu1055His) c.3101T>A (p.Leu1034His) n.3466T>A c.3197T>A (p.Leu1066His) c.3287T>A (p.Leu1096His) c.*3202T>A (n.*3202T>A) c.2297T>A (p.Leu766His) c.*2818T>A (n.*2818T>A) c.863T>A (p.Leu288His) c.2790T>A (p.Ala930=) c.2528T>A (p.Leu843His) c.3221T>A (p.Leu1074His) c.3158T>A (p.Leu1053His) n.2192T>A c.3227T>A (p.Leu1076His) | |
| 1 | g.6467847G>A | CA338113382 | PLEKHG5 | c.2989C>T (p.Leu997Phe) c.3163C>T (p.Leu1055Phe) c.3100C>T (p.Leu1034Phe) n.3465C>T c.3196C>T (p.Leu1066Phe) c.3286C>T (p.Leu1096Phe) c.*3201C>T (n.*3201C>T) c.2296C>T (p.Leu766Phe) c.*2817C>T (n.*2817C>T) c.862C>T (p.Leu288Phe) c.2789C>T (p.Ala930Val) c.2527C>T (p.Leu843Phe) c.3220C>T (p.Leu1074Phe) c.3157C>T (p.Leu1053Phe) n.2191C>T c.3226C>T (p.Leu1076Phe) | |
| 1 | g.6467847G>C | CA338113378 | PLEKHG5 | c.2989C>G (p.Leu997Val) c.3163C>G (p.Leu1055Val) c.3100C>G (p.Leu1034Val) n.3465C>G c.3196C>G (p.Leu1066Val) c.3286C>G (p.Leu1096Val) c.*3201C>G (n.*3201C>G) c.2296C>G (p.Leu766Val) c.*2817C>G (n.*2817C>G) c.862C>G (p.Leu288Val) c.2789C>G (p.Ala930Gly) c.2527C>G (p.Leu843Val) c.3220C>G (p.Leu1074Val) c.3157C>G (p.Leu1053Val) n.2191C>G c.3226C>G (p.Leu1076Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467847G= | CA1151516258 | PLEKHG5 | c.2989C= (p.Leu997=) c.3163C= (p.Leu1055=) c.3100C= (p.Leu1034=) n.3465C= c.3196C= (p.Leu1066=) c.3286C= (p.Leu1096=) c.*3201C= (n.*3201C=) c.2296C= (p.Leu766=) c.*2817C= (n.*2817C=) c.862C= (p.Leu288=) c.2789C= (p.Ala930=) c.2527C= (p.Leu843=) c.3220C= (p.Leu1074=) c.3157C= (p.Leu1053=) n.2191C= c.3226C= (p.Leu1076=) | |
| 1 | g.6467847G>T | CA338113381 | PLEKHG5 | c.2989C>A (p.Leu997Ile) c.3163C>A (p.Leu1055Ile) c.3100C>A (p.Leu1034Ile) n.3465C>A c.3196C>A (p.Leu1066Ile) c.3286C>A (p.Leu1096Ile) c.*3201C>A (n.*3201C>A) c.2296C>A (p.Leu766Ile) c.*2817C>A (n.*2817C>A) c.862C>A (p.Leu288Ile) c.2789C>A (p.Ala930Asp) c.2527C>A (p.Leu843Ile) c.3220C>A (p.Leu1074Ile) c.3157C>A (p.Leu1053Ile) n.2191C>A c.3226C>A (p.Leu1076Ile) | |
| 1 | g.6467848C>A | CA338113386 | PLEKHG5 | c.2988G>T (p.Leu996=) c.3162G>T (p.Leu1054=) c.3099G>T (p.Leu1033=) n.3464G>T c.3195G>T (p.Leu1065=) c.3285G>T (p.Leu1095=) c.*3200G>T (n.*3200G>T) c.2295G>T (p.Leu765=) c.*2816G>T (n.*2816G>T) c.861G>T (p.Leu287=) c.2788G>T (p.Ala930Ser) c.2526G>T (p.Leu842=) c.3219G>T (p.Leu1073=) c.3156G>T (p.Leu1052=) n.2190G>T c.3225G>T (p.Leu1075=) | |
| 1 | g.6467848C= | CA1151516267 | PLEKHG5 | c.2988G= (p.Leu996=) c.3162G= (p.Leu1054=) c.3099G= (p.Leu1033=) n.3464G= c.3195G= (p.Leu1065=) c.3285G= (p.Leu1095=) c.*3200G= (n.*3200G=) c.2295G= (p.Leu765=) c.*2816G= (n.*2816G=) c.861G= (p.Leu287=) c.2788G= (p.Ala930=) c.2526G= (p.Leu842=) c.3219G= (p.Leu1073=) c.3156G= (p.Leu1052=) n.2190G= c.3225G= (p.Leu1075=) | |
| 1 | g.6467848C>G | CA338113389 | PLEKHG5 | c.2988G>C (p.Leu996=) c.3162G>C (p.Leu1054=) c.3099G>C (p.Leu1033=) n.3464G>C c.3195G>C (p.Leu1065=) c.3285G>C (p.Leu1095=) c.*3200G>C (n.*3200G>C) c.2295G>C (p.Leu765=) c.*2816G>C (n.*2816G>C) c.861G>C (p.Leu287=) c.2788G>C (p.Ala930Pro) c.2526G>C (p.Leu842=) c.3219G>C (p.Leu1073=) c.3156G>C (p.Leu1052=) n.2190G>C c.3225G>C (p.Leu1075=) | |
| 1 | g.6467848C>T | CA338113391 | PLEKHG5 | c.2988G>A (p.Leu996=) c.3162G>A (p.Leu1054=) c.3099G>A (p.Leu1033=) n.3464G>A c.3195G>A (p.Leu1065=) c.3285G>A (p.Leu1095=) c.*3200G>A (n.*3200G>A) c.2295G>A (p.Leu765=) c.*2816G>A (n.*2816G>A) c.861G>A (p.Leu287=) c.2788G>A (p.Ala930Thr) c.2526G>A (p.Leu842=) c.3219G>A (p.Leu1073=) c.3156G>A (p.Leu1052=) n.2190G>A c.3225G>A (p.Leu1075=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467849A>C | CA338113394 | PLEKHG5 | c.2987T>G (p.Leu996Arg) c.3161T>G (p.Leu1054Arg) c.3098T>G (p.Leu1033Arg) n.3463T>G c.3194T>G (p.Leu1065Arg) c.3284T>G (p.Leu1095Arg) c.*3199T>G (n.*3199T>G) c.2294T>G (p.Leu765Arg) c.*2815T>G (n.*2815T>G) c.860T>G (p.Leu287Arg) c.2787T>G (p.Ala929=) c.2525T>G (p.Leu842Arg) c.3218T>G (p.Leu1073Arg) c.3155T>G (p.Leu1052Arg) n.2189T>G c.3224T>G (p.Leu1075Arg) | |
| 1 | g.6467849A>G | CA338113396 | PLEKHG5 | c.2987T>C (p.Leu996Pro) c.3161T>C (p.Leu1054Pro) c.3098T>C (p.Leu1033Pro) n.3463T>C c.3194T>C (p.Leu1065Pro) c.3284T>C (p.Leu1095Pro) c.*3199T>C (n.*3199T>C) c.2294T>C (p.Leu765Pro) c.*2815T>C (n.*2815T>C) c.860T>C (p.Leu287Pro) c.2787T>C (p.Ala929=) c.2525T>C (p.Leu842Pro) c.3218T>C (p.Leu1073Pro) c.3155T>C (p.Leu1052Pro) n.2189T>C c.3224T>C (p.Leu1075Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6467849A>T | CA338113399 | PLEKHG5 | c.2987T>A (p.Leu996Gln) c.3161T>A (p.Leu1054Gln) c.3098T>A (p.Leu1033Gln) n.3463T>A c.3194T>A (p.Leu1065Gln) c.3284T>A (p.Leu1095Gln) c.*3199T>A (n.*3199T>A) c.2294T>A (p.Leu765Gln) c.*2815T>A (n.*2815T>A) c.860T>A (p.Leu287Gln) c.2787T>A (p.Ala929=) c.2525T>A (p.Leu842Gln) c.3218T>A (p.Leu1073Gln) c.3155T>A (p.Leu1052Gln) n.2189T>A c.3224T>A (p.Leu1075Gln) | |
| 1 | g.6467850G>A | CA338113401 | PLEKHG5 | c.2986C>T (p.Leu996=) c.3160C>T (p.Leu1054=) c.3097C>T (p.Leu1033=) n.3462C>T c.3193C>T (p.Leu1065=) c.3283C>T (p.Leu1095=) c.*3198C>T (n.*3198C>T) c.2293C>T (p.Leu765=) c.*2814C>T (n.*2814C>T) c.859C>T (p.Leu287=) c.2786C>T (p.Ala929Val) c.2524C>T (p.Leu842=) c.3217C>T (p.Leu1073=) c.3154C>T (p.Leu1052=) n.2188C>T c.3223C>T (p.Leu1075=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467850G>C | CA338113402 | PLEKHG5 | c.2986C>G (p.Leu996Val) c.3160C>G (p.Leu1054Val) c.3097C>G (p.Leu1033Val) n.3462C>G c.3193C>G (p.Leu1065Val) c.3283C>G (p.Leu1095Val) c.*3198C>G (n.*3198C>G) c.2293C>G (p.Leu765Val) c.*2814C>G (n.*2814C>G) c.859C>G (p.Leu287Val) c.2786C>G (p.Ala929Gly) c.2524C>G (p.Leu842Val) c.3217C>G (p.Leu1073Val) c.3154C>G (p.Leu1052Val) n.2188C>G c.3223C>G (p.Leu1075Val) | |
| 1 | g.6467850G= | CA1151516270 | PLEKHG5 | c.2986C= (p.Leu996=) c.3160C= (p.Leu1054=) c.3097C= (p.Leu1033=) n.3462C= c.3193C= (p.Leu1065=) c.3283C= (p.Leu1095=) c.*3198C= (n.*3198C=) c.2293C= (p.Leu765=) c.*2814C= (n.*2814C=) c.859C= (p.Leu287=) c.2786C= (p.Ala929=) c.2524C= (p.Leu842=) c.3217C= (p.Leu1073=) c.3154C= (p.Leu1052=) n.2188C= c.3223C= (p.Leu1075=) | |
| 1 | g.6467850G>T | CA338113403 | PLEKHG5 | c.2986C>A (p.Leu996Met) c.3160C>A (p.Leu1054Met) c.3097C>A (p.Leu1033Met) n.3462C>A c.3193C>A (p.Leu1065Met) c.3283C>A (p.Leu1095Met) c.*3198C>A (n.*3198C>A) c.2293C>A (p.Leu765Met) c.*2814C>A (n.*2814C>A) c.859C>A (p.Leu287Met) c.2786C>A (p.Ala929Asp) c.2524C>A (p.Leu842Met) c.3217C>A (p.Leu1073Met) c.3154C>A (p.Leu1052Met) n.2188C>A c.3223C>A (p.Leu1075Met) | |
| 1 | g.6467851C>A | CA338113405 | PLEKHG5 | c.2985G>T (p.Leu995=) c.3159G>T (p.Leu1053=) c.3096G>T (p.Leu1032=) n.3461G>T c.3192G>T (p.Leu1064=) c.3282G>T (p.Leu1094=) c.*3197G>T (n.*3197G>T) c.2292G>T (p.Leu764=) c.*2813G>T (n.*2813G>T) c.858G>T (p.Leu286=) c.2785G>T (p.Ala929Ser) c.2523G>T (p.Leu841=) c.3216G>T (p.Leu1072=) c.3153G>T (p.Leu1051=) n.2187G>T c.3222G>T (p.Leu1074=) | |
| 1 | g.6467851C>G | CA338113406 | PLEKHG5 | c.2985G>C (p.Leu995=) c.3159G>C (p.Leu1053=) c.3096G>C (p.Leu1032=) n.3461G>C c.3192G>C (p.Leu1064=) c.3282G>C (p.Leu1094=) c.*3197G>C (n.*3197G>C) c.2292G>C (p.Leu764=) c.*2813G>C (n.*2813G>C) c.858G>C (p.Leu286=) c.2785G>C (p.Ala929Pro) c.2523G>C (p.Leu841=) c.3216G>C (p.Leu1072=) c.3153G>C (p.Leu1051=) n.2187G>C c.3222G>C (p.Leu1074=) | gnomAD v4 |
| 1 | g.6467851C>T | CA338113408 | PLEKHG5 | c.2985G>A (p.Leu995=) c.3159G>A (p.Leu1053=) c.3096G>A (p.Leu1032=) n.3461G>A c.3192G>A (p.Leu1064=) c.3282G>A (p.Leu1094=) c.*3197G>A (n.*3197G>A) c.2292G>A (p.Leu764=) c.*2813G>A (n.*2813G>A) c.858G>A (p.Leu286=) c.2785G>A (p.Ala929Thr) c.2523G>A (p.Leu841=) c.3216G>A (p.Leu1072=) c.3153G>A (p.Leu1051=) n.2187G>A c.3222G>A (p.Leu1074=) | |
| 1 | g.6467852A>C | CA338113413 | PLEKHG5 | c.2984T>G (p.Leu995Arg) c.3158T>G (p.Leu1053Arg) c.3095T>G (p.Leu1032Arg) n.3460T>G c.3191T>G (p.Leu1064Arg) c.3281T>G (p.Leu1094Arg) c.*3196T>G (n.*3196T>G) c.2291T>G (p.Leu764Arg) c.*2812T>G (n.*2812T>G) c.857T>G (p.Leu286Arg) c.2784T>G (p.Pro928=) c.2522T>G (p.Leu841Arg) c.3215T>G (p.Leu1072Arg) c.3152T>G (p.Leu1051Arg) n.2186T>G c.3221T>G (p.Leu1074Arg) | |
| 1 | g.6467852A>G | CA338113415 | PLEKHG5 | c.2984T>C (p.Leu995Pro) c.3158T>C (p.Leu1053Pro) c.3095T>C (p.Leu1032Pro) n.3460T>C c.3191T>C (p.Leu1064Pro) c.3281T>C (p.Leu1094Pro) c.*3196T>C (n.*3196T>C) c.2291T>C (p.Leu764Pro) c.*2812T>C (n.*2812T>C) c.857T>C (p.Leu286Pro) c.2784T>C (p.Pro928=) c.2522T>C (p.Leu841Pro) c.3215T>C (p.Leu1072Pro) c.3152T>C (p.Leu1051Pro) n.2186T>C c.3221T>C (p.Leu1074Pro) | |
| 1 | g.6467852A>T | CA338113411 | PLEKHG5 | c.2984T>A (p.Leu995Gln) c.3158T>A (p.Leu1053Gln) c.3095T>A (p.Leu1032Gln) n.3460T>A c.3191T>A (p.Leu1064Gln) c.3281T>A (p.Leu1094Gln) c.*3196T>A (n.*3196T>A) c.2291T>A (p.Leu764Gln) c.*2812T>A (n.*2812T>A) c.857T>A (p.Leu286Gln) c.2784T>A (p.Pro928=) c.2522T>A (p.Leu841Gln) c.3215T>A (p.Leu1072Gln) c.3152T>A (p.Leu1051Gln) n.2186T>A c.3221T>A (p.Leu1074Gln) | |
| 1 | g.6467853G>A | CA338113418 | PLEKHG5 | c.2983C>T (p.Leu995=) c.3157C>T (p.Leu1053=) c.3094C>T (p.Leu1032=) n.3459C>T c.3190C>T (p.Leu1064=) c.3280C>T (p.Leu1094=) c.*3195C>T (n.*3195C>T) c.2290C>T (p.Leu764=) c.*2811C>T (n.*2811C>T) c.856C>T (p.Leu286=) c.2783C>T (p.Pro928Leu) c.2521C>T (p.Leu841=) c.3214C>T (p.Leu1072=) c.3151C>T (p.Leu1051=) n.2185C>T c.3220C>T (p.Leu1074=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467853G>C | CA338113425 | PLEKHG5 | c.2983C>G (p.Leu995Val) c.3157C>G (p.Leu1053Val) c.3094C>G (p.Leu1032Val) n.3459C>G c.3190C>G (p.Leu1064Val) c.3280C>G (p.Leu1094Val) c.*3195C>G (n.*3195C>G) c.2290C>G (p.Leu764Val) c.*2811C>G (n.*2811C>G) c.856C>G (p.Leu286Val) c.2783C>G (p.Pro928Arg) c.2521C>G (p.Leu841Val) c.3214C>G (p.Leu1072Val) c.3151C>G (p.Leu1051Val) n.2185C>G c.3220C>G (p.Leu1074Val) | gnomAD v4 |
| 1 | g.6467853G= | CA1151516273 | PLEKHG5 | c.2983C= (p.Leu995=) c.3157C= (p.Leu1053=) c.3094C= (p.Leu1032=) n.3459C= c.3190C= (p.Leu1064=) c.3280C= (p.Leu1094=) c.*3195C= (n.*3195C=) c.2290C= (p.Leu764=) c.*2811C= (n.*2811C=) c.856C= (p.Leu286=) c.2783C= (p.Pro928=) c.2521C= (p.Leu841=) c.3214C= (p.Leu1072=) c.3151C= (p.Leu1051=) n.2185C= c.3220C= (p.Leu1074=) | |
| 1 | g.6467853G>T | CA338113421 | PLEKHG5 | c.2983C>A (p.Leu995Met) c.3157C>A (p.Leu1053Met) c.3094C>A (p.Leu1032Met) n.3459C>A c.3190C>A (p.Leu1064Met) c.3280C>A (p.Leu1094Met) c.*3195C>A (n.*3195C>A) c.2290C>A (p.Leu764Met) c.*2811C>A (n.*2811C>A) c.856C>A (p.Leu286Met) c.2783C>A (p.Pro928His) c.2521C>A (p.Leu841Met) c.3214C>A (p.Leu1072Met) c.3151C>A (p.Leu1051Met) n.2185C>A c.3220C>A (p.Leu1074Met) | |
| 1 | g.6467854G>A | CA561053 | PLEKHG5 | c.2982C>T (p.Thr994=) c.3156C>T (p.Thr1052=) c.3093C>T (p.Thr1031=) n.3458C>T c.3189C>T (p.Thr1063=) c.3279C>T (p.Thr1093=) c.*3194C>T (n.*3194C>T) c.2289C>T (p.Thr763=) c.*2810C>T (n.*2810C>T) c.855C>T (p.Thr285=) c.2782C>T (p.Pro928Ser) c.2520C>T (p.Thr840=) c.3213C>T (p.Thr1071=) c.3150C>T (p.Thr1050=) n.2184C>T c.3219C>T (p.Thr1073=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467854G>C | CA338113433 | PLEKHG5 | c.2982C>G (p.Thr994=) c.3156C>G (p.Thr1052=) c.3093C>G (p.Thr1031=) n.3458C>G c.3189C>G (p.Thr1063=) c.3279C>G (p.Thr1093=) c.*3194C>G (n.*3194C>G) c.2289C>G (p.Thr763=) c.*2810C>G (n.*2810C>G) c.855C>G (p.Thr285=) c.2782C>G (p.Pro928Ala) c.2520C>G (p.Thr840=) c.3213C>G (p.Thr1071=) c.3150C>G (p.Thr1050=) n.2184C>G c.3219C>G (p.Thr1073=) | |
| 1 | g.6467854G= | CA1148264884 | PLEKHG5 | c.2982C= (p.Thr994=) c.3156C= (p.Thr1052=) c.3093C= (p.Thr1031=) n.3458C= c.3189C= (p.Thr1063=) c.3279C= (p.Thr1093=) c.*3194C= (n.*3194C=) c.2289C= (p.Thr763=) c.*2810C= (n.*2810C=) c.855C= (p.Thr285=) c.2782C= (p.Pro928=) c.2520C= (p.Thr840=) c.3213C= (p.Thr1071=) c.3150C= (p.Thr1050=) n.2184C= c.3219C= (p.Thr1073=) | |
| 1 | g.6467854G>T | CA338113431 | PLEKHG5 | c.2982C>A (p.Thr994=) c.3156C>A (p.Thr1052=) c.3093C>A (p.Thr1031=) n.3458C>A c.3189C>A (p.Thr1063=) c.3279C>A (p.Thr1093=) c.*3194C>A (n.*3194C>A) c.2289C>A (p.Thr763=) c.*2810C>A (n.*2810C>A) c.855C>A (p.Thr285=) c.2782C>A (p.Pro928Thr) c.2520C>A (p.Thr840=) c.3213C>A (p.Thr1071=) c.3150C>A (p.Thr1050=) n.2184C>A c.3219C>A (p.Thr1073=) | gnomAD v4 |
| 1 | g.6467855G>A | CA338113438 | PLEKHG5 | c.2981C>T (p.Thr994Ile) c.3155C>T (p.Thr1052Ile) c.3092C>T (p.Thr1031Ile) n.3457C>T c.3188C>T (p.Thr1063Ile) c.3278C>T (p.Thr1093Ile) c.*3193C>T (n.*3193C>T) c.2288C>T (p.Thr763Ile) c.*2809C>T (n.*2809C>T) c.854C>T (p.Thr285Ile) c.2781C>T (p.His927=) c.2519C>T (p.Thr840Ile) c.3212C>T (p.Thr1071Ile) c.3149C>T (p.Thr1050Ile) n.2183C>T c.3218C>T (p.Thr1073Ile) | |
| 1 | g.6467855G>C | CA338113441 | PLEKHG5 | c.2981C>G (p.Thr994Ser) c.3155C>G (p.Thr1052Ser) c.3092C>G (p.Thr1031Ser) n.3457C>G c.3188C>G (p.Thr1063Ser) c.3278C>G (p.Thr1093Ser) c.*3193C>G (n.*3193C>G) c.2288C>G (p.Thr763Ser) c.*2809C>G (n.*2809C>G) c.854C>G (p.Thr285Ser) c.2781C>G (p.His927Gln) c.2519C>G (p.Thr840Ser) c.3212C>G (p.Thr1071Ser) c.3149C>G (p.Thr1050Ser) n.2183C>G c.3218C>G (p.Thr1073Ser) | |
| 1 | g.6467855G>T | CA338113443 | PLEKHG5 | c.2981C>A (p.Thr994Asn) c.3155C>A (p.Thr1052Asn) c.3092C>A (p.Thr1031Asn) n.3457C>A c.3188C>A (p.Thr1063Asn) c.3278C>A (p.Thr1093Asn) c.*3193C>A (n.*3193C>A) c.2288C>A (p.Thr763Asn) c.*2809C>A (n.*2809C>A) c.854C>A (p.Thr285Asn) c.2781C>A (p.His927Gln) c.2519C>A (p.Thr840Asn) c.3212C>A (p.Thr1071Asn) c.3149C>A (p.Thr1050Asn) n.2183C>A c.3218C>A (p.Thr1073Asn) | |
| 1 | g.6467856T>A | CA338113447 | PLEKHG5 | c.2980A>T (p.Thr994Ser) c.3154A>T (p.Thr1052Ser) c.3091A>T (p.Thr1031Ser) n.3456A>T c.3187A>T (p.Thr1063Ser) c.3277A>T (p.Thr1093Ser) c.*3192A>T (n.*3192A>T) c.2287A>T (p.Thr763Ser) c.*2808A>T (n.*2808A>T) c.853A>T (p.Thr285Ser) c.2780A>T (p.His927Leu) c.2518A>T (p.Thr840Ser) c.3211A>T (p.Thr1071Ser) c.3148A>T (p.Thr1050Ser) n.2182A>T c.3217A>T (p.Thr1073Ser) | |
| 1 | g.6467856T>C | CA338113450 | PLEKHG5 | c.2980A>G (p.Thr994Ala) c.3154A>G (p.Thr1052Ala) c.3091A>G (p.Thr1031Ala) n.3456A>G c.3187A>G (p.Thr1063Ala) c.3277A>G (p.Thr1093Ala) c.*3192A>G (n.*3192A>G) c.2287A>G (p.Thr763Ala) c.*2808A>G (n.*2808A>G) c.853A>G (p.Thr285Ala) c.2780A>G (p.His927Arg) c.2518A>G (p.Thr840Ala) c.3211A>G (p.Thr1071Ala) c.3148A>G (p.Thr1050Ala) n.2182A>G c.3217A>G (p.Thr1073Ala) | |
| 1 | g.6467856T>G | CA338113453 | PLEKHG5 | c.2980A>C (p.Thr994Pro) c.3154A>C (p.Thr1052Pro) c.3091A>C (p.Thr1031Pro) n.3456A>C c.3187A>C (p.Thr1063Pro) c.3277A>C (p.Thr1093Pro) c.*3192A>C (n.*3192A>C) c.2287A>C (p.Thr763Pro) c.*2808A>C (n.*2808A>C) c.853A>C (p.Thr285Pro) c.2780A>C (p.His927Pro) c.2518A>C (p.Thr840Pro) c.3211A>C (p.Thr1071Pro) c.3148A>C (p.Thr1050Pro) n.2182A>C c.3217A>C (p.Thr1073Pro) | |
| 1 | g.6467857G>A | CA17233133 | PLEKHG5 | c.2979C>T (p.Thr993=) c.3153C>T (p.Thr1051=) c.3090C>T (p.Thr1030=) n.3455C>T c.3186C>T (p.Thr1062=) c.3276C>T (p.Thr1092=) c.*3191C>T (n.*3191C>T) c.2286C>T (p.Thr762=) c.*2807C>T (n.*2807C>T) c.852C>T (p.Thr284=) c.2779C>T (p.His927Tyr) c.2517C>T (p.Thr839=) c.3210C>T (p.Thr1070=) c.3147C>T (p.Thr1049=) n.2181C>T c.3216C>T (p.Thr1072=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467857G>C | CA338113456 | PLEKHG5 | c.2979C>G (p.Thr993=) c.3153C>G (p.Thr1051=) c.3090C>G (p.Thr1030=) n.3455C>G c.3186C>G (p.Thr1062=) c.3276C>G (p.Thr1092=) c.*3191C>G (n.*3191C>G) c.2286C>G (p.Thr762=) c.*2807C>G (n.*2807C>G) c.852C>G (p.Thr284=) c.2779C>G (p.His927Asp) c.2517C>G (p.Thr839=) c.3210C>G (p.Thr1070=) c.3147C>G (p.Thr1049=) n.2181C>G c.3216C>G (p.Thr1072=) | |
| 1 | g.6467857G= | CA1151516279 | PLEKHG5 | c.2979C= (p.Thr993=) c.3153C= (p.Thr1051=) c.3090C= (p.Thr1030=) n.3455C= c.3186C= (p.Thr1062=) c.3276C= (p.Thr1092=) c.*3191C= (n.*3191C=) c.2286C= (p.Thr762=) c.*2807C= (n.*2807C=) c.852C= (p.Thr284=) c.2779C= (p.His927=) c.2517C= (p.Thr839=) c.3210C= (p.Thr1070=) c.3147C= (p.Thr1049=) n.2181C= c.3216C= (p.Thr1072=) | |
| 1 | g.6467857G>T | CA338113459 | PLEKHG5 | c.2979C>A (p.Thr993=) c.3153C>A (p.Thr1051=) c.3090C>A (p.Thr1030=) n.3455C>A c.3186C>A (p.Thr1062=) c.3276C>A (p.Thr1092=) c.*3191C>A (n.*3191C>A) c.2286C>A (p.Thr762=) c.*2807C>A (n.*2807C>A) c.852C>A (p.Thr284=) c.2779C>A (p.His927Asn) c.2517C>A (p.Thr839=) c.3210C>A (p.Thr1070=) c.3147C>A (p.Thr1049=) n.2181C>A c.3216C>A (p.Thr1072=) | |
| 1 | g.6467858G>A | CA338113463 | PLEKHG5 | c.2978C>T (p.Thr993Ile) c.3152C>T (p.Thr1051Ile) c.3089C>T (p.Thr1030Ile) n.3454C>T c.3185C>T (p.Thr1062Ile) c.3275C>T (p.Thr1092Ile) c.*3190C>T (n.*3190C>T) c.2285C>T (p.Thr762Ile) c.*2806C>T (n.*2806C>T) c.851C>T (p.Thr284Ile) c.2778C>T (p.Asp926=) c.2516C>T (p.Thr839Ile) c.3209C>T (p.Thr1070Ile) c.3146C>T (p.Thr1049Ile) n.2180C>T c.3215C>T (p.Thr1072Ile) | gnomAD v4 |
| 1 | g.6467858G>C | CA338113465 | PLEKHG5 | c.2978C>G (p.Thr993Ser) c.3152C>G (p.Thr1051Ser) c.3089C>G (p.Thr1030Ser) n.3454C>G c.3185C>G (p.Thr1062Ser) c.3275C>G (p.Thr1092Ser) c.*3190C>G (n.*3190C>G) c.2285C>G (p.Thr762Ser) c.*2806C>G (n.*2806C>G) c.851C>G (p.Thr284Ser) c.2778C>G (p.Asp926Glu) c.2516C>G (p.Thr839Ser) c.3209C>G (p.Thr1070Ser) c.3146C>G (p.Thr1049Ser) n.2180C>G c.3215C>G (p.Thr1072Ser) | |
| 1 | g.6467858G= | CA1151516282 | PLEKHG5 | c.2978C= (p.Thr993=) c.3152C= (p.Thr1051=) c.3089C= (p.Thr1030=) n.3454C= c.3185C= (p.Thr1062=) c.3275C= (p.Thr1092=) c.*3190C= (n.*3190C=) c.2285C= (p.Thr762=) c.*2806C= (n.*2806C=) c.851C= (p.Thr284=) c.2778C= (p.Asp926=) c.2516C= (p.Thr839=) c.3209C= (p.Thr1070=) c.3146C= (p.Thr1049=) n.2180C= c.3215C= (p.Thr1072=) | |
| 1 | g.6467858G>T | CA561054 | PLEKHG5 | c.2978C>A (p.Thr993Asn) c.3152C>A (p.Thr1051Asn) c.3089C>A (p.Thr1030Asn) n.3454C>A c.3185C>A (p.Thr1062Asn) c.3275C>A (p.Thr1092Asn) c.*3190C>A (n.*3190C>A) c.2285C>A (p.Thr762Asn) c.*2806C>A (n.*2806C>A) c.851C>A (p.Thr284Asn) c.2778C>A (p.Asp926Glu) c.2516C>A (p.Thr839Asn) c.3209C>A (p.Thr1070Asn) c.3146C>A (p.Thr1049Asn) n.2180C>A c.3215C>A (p.Thr1072Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467859T>A | CA338113471 | PLEKHG5 | c.2977A>T (p.Thr993Ser) c.3151A>T (p.Thr1051Ser) c.3088A>T (p.Thr1030Ser) n.3453A>T c.3184A>T (p.Thr1062Ser) c.3274A>T (p.Thr1092Ser) c.*3189A>T (n.*3189A>T) c.2284A>T (p.Thr762Ser) c.*2805A>T (n.*2805A>T) c.850A>T (p.Thr284Ser) c.2777A>T (p.Asp926Val) c.2515A>T (p.Thr839Ser) c.3208A>T (p.Thr1070Ser) c.3145A>T (p.Thr1049Ser) n.2179A>T c.3214A>T (p.Thr1072Ser) | |
| 1 | g.6467859T>C | CA338113476 | PLEKHG5 | c.2977A>G (p.Thr993Ala) c.3151A>G (p.Thr1051Ala) c.3088A>G (p.Thr1030Ala) n.3453A>G c.3184A>G (p.Thr1062Ala) c.3274A>G (p.Thr1092Ala) c.*3189A>G (n.*3189A>G) c.2284A>G (p.Thr762Ala) c.*2805A>G (n.*2805A>G) c.850A>G (p.Thr284Ala) c.2777A>G (p.Asp926Gly) c.2515A>G (p.Thr839Ala) c.3208A>G (p.Thr1070Ala) c.3145A>G (p.Thr1049Ala) n.2179A>G c.3214A>G (p.Thr1072Ala) | |
| 1 | g.6467859T>G | CA338113474 | PLEKHG5 | c.2977A>C (p.Thr993Pro) c.3151A>C (p.Thr1051Pro) c.3088A>C (p.Thr1030Pro) n.3453A>C c.3184A>C (p.Thr1062Pro) c.3274A>C (p.Thr1092Pro) c.*3189A>C (n.*3189A>C) c.2284A>C (p.Thr762Pro) c.*2805A>C (n.*2805A>C) c.850A>C (p.Thr284Pro) c.2777A>C (p.Asp926Ala) c.2515A>C (p.Thr839Pro) c.3208A>C (p.Thr1070Pro) c.3145A>C (p.Thr1049Pro) n.2179A>C c.3214A>C (p.Thr1072Pro) | |
| 1 | g.6467860C>A | CA338113481 | PLEKHG5 | c.2976G>T (p.Arg992Ser) c.3150G>T (p.Arg1050Ser) c.3087G>T (p.Arg1029Ser) n.3452G>T c.3183G>T (p.Arg1061Ser) c.3273G>T (p.Arg1091Ser) c.*3188G>T (n.*3188G>T) c.2283G>T (p.Arg761Ser) c.*2804G>T (n.*2804G>T) c.849G>T (p.Arg283Ser) c.2776G>T (p.Asp926Tyr) c.2514G>T (p.Arg838Ser) c.3207G>T (p.Arg1069Ser) c.3144G>T (p.Arg1048Ser) n.2178G>T c.3213G>T (p.Arg1071Ser) | dbSNP gnomAD v4 |
| 1 | g.6467860C= | CA1151516286 | PLEKHG5 | c.2976G= (p.Arg992=) c.3150G= (p.Arg1050=) c.3087G= (p.Arg1029=) n.3452G= c.3183G= (p.Arg1061=) c.3273G= (p.Arg1091=) c.*3188G= (n.*3188G=) c.2283G= (p.Arg761=) c.*2804G= (n.*2804G=) c.849G= (p.Arg283=) c.2776G= (p.Asp926=) c.2514G= (p.Arg838=) c.3207G= (p.Arg1069=) c.3144G= (p.Arg1048=) n.2178G= c.3213G= (p.Arg1071=) | |
| 1 | g.6467860C>G | CA338113482 | PLEKHG5 | c.2976G>C (p.Arg992Ser) c.3150G>C (p.Arg1050Ser) c.3087G>C (p.Arg1029Ser) n.3452G>C c.3183G>C (p.Arg1061Ser) c.3273G>C (p.Arg1091Ser) c.*3188G>C (n.*3188G>C) c.2283G>C (p.Arg761Ser) c.*2804G>C (n.*2804G>C) c.849G>C (p.Arg283Ser) c.2776G>C (p.Asp926His) c.2514G>C (p.Arg838Ser) c.3207G>C (p.Arg1069Ser) c.3144G>C (p.Arg1048Ser) n.2178G>C c.3213G>C (p.Arg1071Ser) | gnomAD v4 |
| 1 | g.6467860C>T | CA338113484 | PLEKHG5 | c.2976G>A (p.Arg992=) c.3150G>A (p.Arg1050=) c.3087G>A (p.Arg1029=) n.3452G>A c.3183G>A (p.Arg1061=) c.3273G>A (p.Arg1091=) c.*3188G>A (n.*3188G>A) c.2283G>A (p.Arg761=) c.*2804G>A (n.*2804G>A) c.849G>A (p.Arg283=) c.2776G>A (p.Asp926Asn) c.2514G>A (p.Arg838=) c.3207G>A (p.Arg1069=) c.3144G>A (p.Arg1048=) n.2178G>A c.3213G>A (p.Arg1071=) | ClinVar |
| 1 | g.6467861C>A | CA338113489 | PLEKHG5 | c.2975G>T (p.Arg992Met) c.3149G>T (p.Arg1050Met) c.3086G>T (p.Arg1029Met) n.3451G>T c.3182G>T (p.Arg1061Met) c.3272G>T (p.Arg1091Met) c.*3187G>T (n.*3187G>T) c.2282G>T (p.Arg761Met) c.*2803G>T (n.*2803G>T) c.848G>T (p.Arg283Met) c.2775G>T (p.Gln925His) c.2513G>T (p.Arg838Met) c.3206G>T (p.Arg1069Met) c.3143G>T (p.Arg1048Met) n.2177G>T c.3212G>T (p.Arg1071Met) | |
| 1 | g.6467861C= | CA1151516296 | PLEKHG5 | c.2975G= (p.Arg992=) c.3149G= (p.Arg1050=) c.3086G= (p.Arg1029=) n.3451G= c.3182G= (p.Arg1061=) c.3272G= (p.Arg1091=) c.*3187G= (n.*3187G=) c.2282G= (p.Arg761=) c.*2803G= (n.*2803G=) c.848G= (p.Arg283=) c.2775G= (p.Gln925=) c.2513G= (p.Arg838=) c.3206G= (p.Arg1069=) c.3143G= (p.Arg1048=) n.2177G= c.3212G= (p.Arg1071=) | |
| 1 | g.6467861C>G | CA17233151 | PLEKHG5 | c.2975G>C (p.Arg992Thr) c.3149G>C (p.Arg1050Thr) c.3086G>C (p.Arg1029Thr) n.3451G>C c.3182G>C (p.Arg1061Thr) c.3272G>C (p.Arg1091Thr) c.*3187G>C (n.*3187G>C) c.2282G>C (p.Arg761Thr) c.*2803G>C (n.*2803G>C) c.848G>C (p.Arg283Thr) c.2775G>C (p.Gln925His) c.2513G>C (p.Arg838Thr) c.3206G>C (p.Arg1069Thr) c.3143G>C (p.Arg1048Thr) n.2177G>C c.3212G>C (p.Arg1071Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467861C>T | CA338113493 | PLEKHG5 | c.2975G>A (p.Arg992Lys) c.3149G>A (p.Arg1050Lys) c.3086G>A (p.Arg1029Lys) n.3451G>A c.3182G>A (p.Arg1061Lys) c.3272G>A (p.Arg1091Lys) c.*3187G>A (n.*3187G>A) c.2282G>A (p.Arg761Lys) c.*2803G>A (n.*2803G>A) c.848G>A (p.Arg283Lys) c.2775G>A (p.Gln925=) c.2513G>A (p.Arg838Lys) c.3206G>A (p.Arg1069Lys) c.3143G>A (p.Arg1048Lys) n.2177G>A c.3212G>A (p.Arg1071Lys) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6467862T>A | CA338113497 | PLEKHG5 | c.2974A>T (p.Arg992Trp) c.3148A>T (p.Arg1050Trp) c.3085A>T (p.Arg1029Trp) n.3450A>T c.3181A>T (p.Arg1061Trp) c.3271A>T (p.Arg1091Trp) c.*3186A>T (n.*3186A>T) c.2281A>T (p.Arg761Trp) c.*2802A>T (n.*2802A>T) c.847A>T (p.Arg283Trp) c.2774A>T (p.Gln925Leu) c.2512A>T (p.Arg838Trp) c.3205A>T (p.Arg1069Trp) c.3142A>T (p.Arg1048Trp) n.2176A>T c.3211A>T (p.Arg1071Trp) | |
| 1 | g.6467862T>C | CA338113500 | PLEKHG5 | c.2974A>G (p.Arg992Gly) c.3148A>G (p.Arg1050Gly) c.3085A>G (p.Arg1029Gly) n.3450A>G c.3181A>G (p.Arg1061Gly) c.3271A>G (p.Arg1091Gly) c.*3186A>G (n.*3186A>G) c.2281A>G (p.Arg761Gly) c.*2802A>G (n.*2802A>G) c.847A>G (p.Arg283Gly) c.2774A>G (p.Gln925Arg) c.2512A>G (p.Arg838Gly) c.3205A>G (p.Arg1069Gly) c.3142A>G (p.Arg1048Gly) n.2176A>G c.3211A>G (p.Arg1071Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467862T>G | CA338113502 | PLEKHG5 | c.2974A>C (p.Arg992=) c.3148A>C (p.Arg1050=) c.3085A>C (p.Arg1029=) n.3450A>C c.3181A>C (p.Arg1061=) c.3271A>C (p.Arg1091=) c.*3186A>C (n.*3186A>C) c.2281A>C (p.Arg761=) c.*2802A>C (n.*2802A>C) c.847A>C (p.Arg283=) c.2774A>C (p.Gln925Pro) c.2512A>C (p.Arg838=) c.3205A>C (p.Arg1069=) c.3142A>C (p.Arg1048=) n.2176A>C c.3211A>C (p.Arg1071=) | |
| 1 | g.6467862T= | CA1151516307 | PLEKHG5 | c.2974A= (p.Arg992=) c.3148A= (p.Arg1050=) c.3085A= (p.Arg1029=) n.3450A= c.3181A= (p.Arg1061=) c.3271A= (p.Arg1091=) c.*3186A= (n.*3186A=) c.2281A= (p.Arg761=) c.*2802A= (n.*2802A=) c.847A= (p.Arg283=) c.2774A= (p.Gln925=) c.2512A= (p.Arg838=) c.3205A= (p.Arg1069=) c.3142A= (p.Arg1048=) n.2176A= c.3211A= (p.Arg1071=) | |
| 1 | g.6467863G>A | CA338113508 | PLEKHG5 | c.2973C>T (p.Ile991=) c.3147C>T (p.Ile1049=) c.3084C>T (p.Ile1028=) n.3449C>T c.3180C>T (p.Ile1060=) c.3270C>T (p.Ile1090=) c.*3185C>T (n.*3185C>T) c.2280C>T (p.Ile760=) c.*2801C>T (n.*2801C>T) c.846C>T (p.Ile282=) c.2773C>T (p.Gln925Ter) c.2511C>T (p.Ile837=) c.3204C>T (p.Ile1068=) c.3141C>T (p.Ile1047=) n.2175C>T c.3210C>T (p.Ile1070=) | gnomAD v4 |
| 1 | g.6467863G>C | CA338113506 | PLEKHG5 | c.2973C>G (p.Ile991Met) c.3147C>G (p.Ile1049Met) c.3084C>G (p.Ile1028Met) n.3449C>G c.3180C>G (p.Ile1060Met) c.3270C>G (p.Ile1090Met) c.*3185C>G (n.*3185C>G) c.2280C>G (p.Ile760Met) c.*2801C>G (n.*2801C>G) c.846C>G (p.Ile282Met) c.2773C>G (p.Gln925Glu) c.2511C>G (p.Ile837Met) c.3204C>G (p.Ile1068Met) c.3141C>G (p.Ile1047Met) n.2175C>G c.3210C>G (p.Ile1070Met) | |
| 1 | g.6467863G>T | CA338113505 | PLEKHG5 | c.2973C>A (p.Ile991=) c.3147C>A (p.Ile1049=) c.3084C>A (p.Ile1028=) n.3449C>A c.3180C>A (p.Ile1060=) c.3270C>A (p.Ile1090=) c.*3185C>A (n.*3185C>A) c.2280C>A (p.Ile760=) c.*2801C>A (n.*2801C>A) c.846C>A (p.Ile282=) c.2773C>A (p.Gln925Lys) c.2511C>A (p.Ile837=) c.3204C>A (p.Ile1068=) c.3141C>A (p.Ile1047=) n.2175C>A c.3210C>A (p.Ile1070=) | |
| 1 | g.6467864A>C | CA338113512 | PLEKHG5 | c.2972T>G (p.Ile991Ser) c.3146T>G (p.Ile1049Ser) c.3083T>G (p.Ile1028Ser) n.3448T>G c.3179T>G (p.Ile1060Ser) c.3269T>G (p.Ile1090Ser) c.*3184T>G (n.*3184T>G) c.2279T>G (p.Ile760Ser) c.*2800T>G (n.*2800T>G) c.845T>G (p.Ile282Ser) c.2772T>G (p.Asn924Lys) c.2510T>G (p.Ile837Ser) c.3203T>G (p.Ile1068Ser) c.3140T>G (p.Ile1047Ser) n.2174T>G c.3209T>G (p.Ile1070Ser) | |
| 1 | g.6467864A>G | CA338113513 | PLEKHG5 | c.2972T>C (p.Ile991Thr) c.3146T>C (p.Ile1049Thr) c.3083T>C (p.Ile1028Thr) n.3448T>C c.3179T>C (p.Ile1060Thr) c.3269T>C (p.Ile1090Thr) c.*3184T>C (n.*3184T>C) c.2279T>C (p.Ile760Thr) c.*2800T>C (n.*2800T>C) c.845T>C (p.Ile282Thr) c.2772T>C (p.Asn924=) c.2510T>C (p.Ile837Thr) c.3203T>C (p.Ile1068Thr) c.3140T>C (p.Ile1047Thr) n.2174T>C c.3209T>C (p.Ile1070Thr) | ClinVar |
| 1 | g.6467864A>T | CA338113515 | PLEKHG5 | c.2972T>A (p.Ile991Asn) c.3146T>A (p.Ile1049Asn) c.3083T>A (p.Ile1028Asn) n.3448T>A c.3179T>A (p.Ile1060Asn) c.3269T>A (p.Ile1090Asn) c.*3184T>A (n.*3184T>A) c.2279T>A (p.Ile760Asn) c.*2800T>A (n.*2800T>A) c.845T>A (p.Ile282Asn) c.2772T>A (p.Asn924Lys) c.2510T>A (p.Ile837Asn) c.3203T>A (p.Ile1068Asn) c.3140T>A (p.Ile1047Asn) n.2174T>A c.3209T>A (p.Ile1070Asn) | |
| 1 | g.6467865T>A | CA338113519 | PLEKHG5 | c.2971A>T (p.Ile991Phe) c.3145A>T (p.Ile1049Phe) c.3082A>T (p.Ile1028Phe) n.3447A>T c.3178A>T (p.Ile1060Phe) c.3268A>T (p.Ile1090Phe) c.*3183A>T (n.*3183A>T) c.2278A>T (p.Ile760Phe) c.*2799A>T (n.*2799A>T) c.844A>T (p.Ile282Phe) c.2771A>T (p.Asn924Ile) c.2509A>T (p.Ile837Phe) c.3202A>T (p.Ile1068Phe) c.3139A>T (p.Ile1047Phe) n.2173A>T c.3208A>T (p.Ile1070Phe) | |
| 1 | g.6467865T>C | CA338113521 | PLEKHG5 | c.2971A>G (p.Ile991Val) c.3145A>G (p.Ile1049Val) c.3082A>G (p.Ile1028Val) n.3447A>G c.3178A>G (p.Ile1060Val) c.3268A>G (p.Ile1090Val) c.*3183A>G (n.*3183A>G) c.2278A>G (p.Ile760Val) c.*2799A>G (n.*2799A>G) c.844A>G (p.Ile282Val) c.2771A>G (p.Asn924Ser) c.2509A>G (p.Ile837Val) c.3202A>G (p.Ile1068Val) c.3139A>G (p.Ile1047Val) n.2173A>G c.3208A>G (p.Ile1070Val) | |
| 1 | g.6467865T>G | CA338113524 | PLEKHG5 | c.2971A>C (p.Ile991Leu) c.3145A>C (p.Ile1049Leu) c.3082A>C (p.Ile1028Leu) n.3447A>C c.3178A>C (p.Ile1060Leu) c.3268A>C (p.Ile1090Leu) c.*3183A>C (n.*3183A>C) c.2278A>C (p.Ile760Leu) c.*2799A>C (n.*2799A>C) c.844A>C (p.Ile282Leu) c.2771A>C (p.Asn924Thr) c.2509A>C (p.Ile837Leu) c.3202A>C (p.Ile1068Leu) c.3139A>C (p.Ile1047Leu) n.2173A>C c.3208A>C (p.Ile1070Leu) | |
| 1 | g.6467866T>A | CA561055 | PLEKHG5 | c.2970A>T (p.Arg990=) c.3144A>T (p.Arg1048=) c.3081A>T (p.Arg1027=) n.3446A>T c.3177A>T (p.Arg1059=) c.3267A>T (p.Arg1089=) c.*3182A>T (n.*3182A>T) c.2277A>T (p.Arg759=) c.*2798A>T (n.*2798A>T) c.843A>T (p.Arg281=) c.2770A>T (p.Asn924Tyr) c.2508A>T (p.Arg836=) c.3201A>T (p.Arg1067=) c.3138A>T (p.Arg1046=) n.2172A>T c.3207A>T (p.Arg1069=) | dbSNP ExAC gnomAD v2 |
| 1 | g.6467866T>C | CA338113528 | PLEKHG5 | c.2970A>G (p.Arg990=) c.3144A>G (p.Arg1048=) c.3081A>G (p.Arg1027=) n.3446A>G c.3177A>G (p.Arg1059=) c.3267A>G (p.Arg1089=) c.*3182A>G (n.*3182A>G) c.2277A>G (p.Arg759=) c.*2798A>G (n.*2798A>G) c.843A>G (p.Arg281=) c.2770A>G (p.Asn924Asp) c.2508A>G (p.Arg836=) c.3201A>G (p.Arg1067=) c.3138A>G (p.Arg1046=) n.2172A>G c.3207A>G (p.Arg1069=) | |
| 1 | g.6467866T>G | CA338113530 | PLEKHG5 | c.2970A>C (p.Arg990=) c.3144A>C (p.Arg1048=) c.3081A>C (p.Arg1027=) n.3446A>C c.3177A>C (p.Arg1059=) c.3267A>C (p.Arg1089=) c.*3182A>C (n.*3182A>C) c.2277A>C (p.Arg759=) c.*2798A>C (n.*2798A>C) c.843A>C (p.Arg281=) c.2770A>C (p.Asn924His) c.2508A>C (p.Arg836=) c.3201A>C (p.Arg1067=) c.3138A>C (p.Arg1046=) n.2172A>C c.3207A>C (p.Arg1069=) | |
| 1 | g.6467866T= | CA1151516309 | PLEKHG5 | c.2970A= (p.Arg990=) c.3144A= (p.Arg1048=) c.3081A= (p.Arg1027=) n.3446A= c.3177A= (p.Arg1059=) c.3267A= (p.Arg1089=) c.*3182A= (n.*3182A=) c.2277A= (p.Arg759=) c.*2798A= (n.*2798A=) c.843A= (p.Arg281=) c.2770A= (p.Asn924=) c.2508A= (p.Arg836=) c.3201A= (p.Arg1067=) c.3138A= (p.Arg1046=) n.2172A= c.3207A= (p.Arg1069=) | |
| 1 | g.6467867C>A | CA338113535 | PLEKHG5 | c.2969G>T (p.Arg990Leu) c.3143G>T (p.Arg1048Leu) c.3080G>T (p.Arg1027Leu) n.3445G>T c.3176G>T (p.Arg1059Leu) c.3266G>T (p.Arg1089Leu) c.*3181G>T (n.*3181G>T) c.2276G>T (p.Arg759Leu) c.*2797G>T (n.*2797G>T) c.842G>T (p.Arg281Leu) c.2769G>T (p.Pro923=) c.2507G>T (p.Arg836Leu) c.3200G>T (p.Arg1067Leu) c.3137G>T (p.Arg1046Leu) n.2171G>T c.3206G>T (p.Arg1069Leu) | gnomAD v4 |
| 1 | g.6467867C= | CA1151516316 | PLEKHG5 | c.2969G= (p.Arg990=) c.3143G= (p.Arg1048=) c.3080G= (p.Arg1027=) n.3445G= c.3176G= (p.Arg1059=) c.3266G= (p.Arg1089=) c.*3181G= (n.*3181G=) c.2276G= (p.Arg759=) c.*2797G= (n.*2797G=) c.842G= (p.Arg281=) c.2769G= (p.Pro923=) c.2507G= (p.Arg836=) c.3200G= (p.Arg1067=) c.3137G= (p.Arg1046=) n.2171G= c.3206G= (p.Arg1069=) | |
| 1 | g.6467867C>G | CA338113538 | PLEKHG5 | c.2969G>C (p.Arg990Pro) c.3143G>C (p.Arg1048Pro) c.3080G>C (p.Arg1027Pro) n.3445G>C c.3176G>C (p.Arg1059Pro) c.3266G>C (p.Arg1089Pro) c.*3181G>C (n.*3181G>C) c.2276G>C (p.Arg759Pro) c.*2797G>C (n.*2797G>C) c.842G>C (p.Arg281Pro) c.2769G>C (p.Pro923=) c.2507G>C (p.Arg836Pro) c.3200G>C (p.Arg1067Pro) c.3137G>C (p.Arg1046Pro) n.2171G>C c.3206G>C (p.Arg1069Pro) | dbSNP gnomAD v2 |
| 1 | g.6467867C>T | CA561056 | PLEKHG5 | c.2969G>A (p.Arg990Gln) c.3143G>A (p.Arg1048Gln) c.3080G>A (p.Arg1027Gln) n.3445G>A c.3176G>A (p.Arg1059Gln) c.3266G>A (p.Arg1089Gln) c.*3181G>A (n.*3181G>A) c.2276G>A (p.Arg759Gln) c.*2797G>A (n.*2797G>A) c.842G>A (p.Arg281Gln) c.2769G>A (p.Pro923=) c.2507G>A (p.Arg836Gln) c.3200G>A (p.Arg1067Gln) c.3137G>A (p.Arg1046Gln) n.2171G>A c.3206G>A (p.Arg1069Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467868G>A | CA561057 | PLEKHG5 | c.2968C>T (p.Arg990Ter) c.3142C>T (p.Arg1048Ter) c.3079C>T (p.Arg1027Ter) n.3444C>T c.3175C>T (p.Arg1059Ter) c.3265C>T (p.Arg1089Ter) c.*3180C>T (n.*3180C>T) c.2275C>T (p.Arg759Ter) c.*2796C>T (n.*2796C>T) c.841C>T (p.Arg281Ter) c.2768C>T (p.Pro923Leu) c.2506C>T (p.Arg836Ter) c.3199C>T (p.Arg1067Ter) c.3136C>T (p.Arg1046Ter) n.2170C>T c.3205C>T (p.Arg1069Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6467868G>C | CA338113545 | PLEKHG5 | c.2968C>G (p.Arg990Gly) c.3142C>G (p.Arg1048Gly) c.3079C>G (p.Arg1027Gly) n.3444C>G c.3175C>G (p.Arg1059Gly) c.3265C>G (p.Arg1089Gly) c.*3180C>G (n.*3180C>G) c.2275C>G (p.Arg759Gly) c.*2796C>G (n.*2796C>G) c.841C>G (p.Arg281Gly) c.2768C>G (p.Pro923Arg) c.2506C>G (p.Arg836Gly) c.3199C>G (p.Arg1067Gly) c.3136C>G (p.Arg1046Gly) n.2170C>G c.3205C>G (p.Arg1069Gly) | |
| 1 | g.6467868G= | CA1151516365 | PLEKHG5 | c.2968C= (p.Arg990=) c.3142C= (p.Arg1048=) c.3079C= (p.Arg1027=) n.3444C= c.3175C= (p.Arg1059=) c.3265C= (p.Arg1089=) c.*3180C= (n.*3180C=) c.2275C= (p.Arg759=) c.*2796C= (n.*2796C=) c.841C= (p.Arg281=) c.2768C= (p.Pro923=) c.2506C= (p.Arg836=) c.3199C= (p.Arg1067=) c.3136C= (p.Arg1046=) n.2170C= c.3205C= (p.Arg1069=) | |
| 1 | g.6467868G>T | CA338113548 | PLEKHG5 | c.2968C>A (p.Arg990=) c.3142C>A (p.Arg1048=) c.3079C>A (p.Arg1027=) n.3444C>A c.3175C>A (p.Arg1059=) c.3265C>A (p.Arg1089=) c.*3180C>A (n.*3180C>A) c.2275C>A (p.Arg759=) c.*2796C>A (n.*2796C>A) c.841C>A (p.Arg281=) c.2768C>A (p.Pro923Gln) c.2506C>A (p.Arg836=) c.3199C>A (p.Arg1067=) c.3136C>A (p.Arg1046=) n.2170C>A c.3205C>A (p.Arg1069=) | |
| 1 | g.6467869G>A | CA561058 | PLEKHG5 | c.2967C>T (p.Tyr989=) c.3141C>T (p.Tyr1047=) c.3078C>T (p.Tyr1026=) n.3443C>T c.3174C>T (p.Tyr1058=) c.3264C>T (p.Tyr1088=) c.*3179C>T (n.*3179C>T) c.2274C>T (p.Tyr758=) c.*2795C>T (n.*2795C>T) c.840C>T (p.Tyr280=) c.2767C>T (p.Pro923Ser) c.2505C>T (p.Tyr835=) c.3198C>T (p.Tyr1066=) c.3135C>T (p.Tyr1045=) n.2169C>T c.3204C>T (p.Tyr1068=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6467869G>C | CA338113555 | PLEKHG5 | c.2967C>G (p.Tyr989Ter) c.3141C>G (p.Tyr1047Ter) c.3078C>G (p.Tyr1026Ter) n.3443C>G c.3174C>G (p.Tyr1058Ter) c.3264C>G (p.Tyr1088Ter) c.*3179C>G (n.*3179C>G) c.2274C>G (p.Tyr758Ter) c.*2795C>G (n.*2795C>G) c.840C>G (p.Tyr280Ter) c.2767C>G (p.Pro923Ala) c.2505C>G (p.Tyr835Ter) c.3198C>G (p.Tyr1066Ter) c.3135C>G (p.Tyr1045Ter) n.2169C>G c.3204C>G (p.Tyr1068Ter) | |
| 1 | g.6467869G= | CA1151516373 | PLEKHG5 | c.2967C= (p.Tyr989=) c.3141C= (p.Tyr1047=) c.3078C= (p.Tyr1026=) n.3443C= c.3174C= (p.Tyr1058=) c.3264C= (p.Tyr1088=) c.*3179C= (n.*3179C=) c.2274C= (p.Tyr758=) c.*2795C= (n.*2795C=) c.840C= (p.Tyr280=) c.2767C= (p.Pro923=) c.2505C= (p.Tyr835=) c.3198C= (p.Tyr1066=) c.3135C= (p.Tyr1045=) n.2169C= c.3204C= (p.Tyr1068=) | |
| 1 | g.6467869G>T | CA338113558 | PLEKHG5 | c.2967C>A (p.Tyr989Ter) c.3141C>A (p.Tyr1047Ter) c.3078C>A (p.Tyr1026Ter) n.3443C>A c.3174C>A (p.Tyr1058Ter) c.3264C>A (p.Tyr1088Ter) c.*3179C>A (n.*3179C>A) c.2274C>A (p.Tyr758Ter) c.*2795C>A (n.*2795C>A) c.840C>A (p.Tyr280Ter) c.2767C>A (p.Pro923Thr) c.2505C>A (p.Tyr835Ter) c.3198C>A (p.Tyr1066Ter) c.3135C>A (p.Tyr1045Ter) n.2169C>A c.3204C>A (p.Tyr1068Ter) | |
| 1 | g.6467870T>A | CA338113561 | PLEKHG5 | c.2966A>T (p.Tyr989Phe) c.3140A>T (p.Tyr1047Phe) c.3077A>T (p.Tyr1026Phe) n.3442A>T c.3173A>T (p.Tyr1058Phe) c.3263A>T (p.Tyr1088Phe) c.*3178A>T (n.*3178A>T) c.2273A>T (p.Tyr758Phe) c.*2794A>T (n.*2794A>T) c.839A>T (p.Tyr280Phe) c.2766A>T (p.Leu922=) c.2504A>T (p.Tyr835Phe) c.3197A>T (p.Tyr1066Phe) c.3134A>T (p.Tyr1045Phe) n.2168A>T c.3203A>T (p.Tyr1068Phe) | |
| 1 | g.6467870T>C | CA338113562 | PLEKHG5 | c.2966A>G (p.Tyr989Cys) c.3140A>G (p.Tyr1047Cys) c.3077A>G (p.Tyr1026Cys) n.3442A>G c.3173A>G (p.Tyr1058Cys) c.3263A>G (p.Tyr1088Cys) c.*3178A>G (n.*3178A>G) c.2273A>G (p.Tyr758Cys) c.*2794A>G (n.*2794A>G) c.839A>G (p.Tyr280Cys) c.2766A>G (p.Leu922=) c.2504A>G (p.Tyr835Cys) c.3197A>G (p.Tyr1066Cys) c.3134A>G (p.Tyr1045Cys) n.2168A>G c.3203A>G (p.Tyr1068Cys) | |
| 1 | g.6467870T>G | CA338113564 | PLEKHG5 | c.2966A>C (p.Tyr989Ser) c.3140A>C (p.Tyr1047Ser) c.3077A>C (p.Tyr1026Ser) n.3442A>C c.3173A>C (p.Tyr1058Ser) c.3263A>C (p.Tyr1088Ser) c.*3178A>C (n.*3178A>C) c.2273A>C (p.Tyr758Ser) c.*2794A>C (n.*2794A>C) c.839A>C (p.Tyr280Ser) c.2766A>C (p.Leu922=) c.2504A>C (p.Tyr835Ser) c.3197A>C (p.Tyr1066Ser) c.3134A>C (p.Tyr1045Ser) n.2168A>C c.3203A>C (p.Tyr1068Ser) | |
| 1 | g.6467871A= | CA1151516378 | PLEKHG5 | c.2965T= (p.Tyr989=) c.3139T= (p.Tyr1047=) c.3076T= (p.Tyr1026=) n.3441T= c.3172T= (p.Tyr1058=) c.3262T= (p.Tyr1088=) c.*3177T= (n.*3177T=) c.2272T= (p.Tyr758=) c.*2793T= (n.*2793T=) c.838T= (p.Tyr280=) c.2765T= (p.Leu922=) c.2503T= (p.Tyr835=) c.3196T= (p.Tyr1066=) c.3133T= (p.Tyr1045=) n.2167T= c.3202T= (p.Tyr1068=) | |
| 1 | g.6467871A>C | CA338113567 | PLEKHG5 | c.2965T>G (p.Tyr989Asp) c.3139T>G (p.Tyr1047Asp) c.3076T>G (p.Tyr1026Asp) n.3441T>G c.3172T>G (p.Tyr1058Asp) c.3262T>G (p.Tyr1088Asp) c.*3177T>G (n.*3177T>G) c.2272T>G (p.Tyr758Asp) c.*2793T>G (n.*2793T>G) c.838T>G (p.Tyr280Asp) c.2765T>G (p.Leu922Arg) c.2503T>G (p.Tyr835Asp) c.3196T>G (p.Tyr1066Asp) c.3133T>G (p.Tyr1045Asp) n.2167T>G c.3202T>G (p.Tyr1068Asp) | |
| 1 | g.6467871A>G | CA338113570 | PLEKHG5 | c.2965T>C (p.Tyr989His) c.3139T>C (p.Tyr1047His) c.3076T>C (p.Tyr1026His) n.3441T>C c.3172T>C (p.Tyr1058His) c.3262T>C (p.Tyr1088His) c.*3177T>C (n.*3177T>C) c.2272T>C (p.Tyr758His) c.*2793T>C (n.*2793T>C) c.838T>C (p.Tyr280His) c.2765T>C (p.Leu922Pro) c.2503T>C (p.Tyr835His) c.3196T>C (p.Tyr1066His) c.3133T>C (p.Tyr1045His) n.2167T>C c.3202T>C (p.Tyr1068His) | dbSNP |
| 1 | g.6467871A>T | CA338113573 | PLEKHG5 | c.2965T>A (p.Tyr989Asn) c.3139T>A (p.Tyr1047Asn) c.3076T>A (p.Tyr1026Asn) n.3441T>A c.3172T>A (p.Tyr1058Asn) c.3262T>A (p.Tyr1088Asn) c.*3177T>A (n.*3177T>A) c.2272T>A (p.Tyr758Asn) c.*2793T>A (n.*2793T>A) c.838T>A (p.Tyr280Asn) c.2765T>A (p.Leu922Gln) c.2503T>A (p.Tyr835Asn) c.3196T>A (p.Tyr1066Asn) c.3133T>A (p.Tyr1045Asn) n.2167T>A c.3202T>A (p.Tyr1068Asn) | |
| 1 | g.6467872G>A | CA416021988 | PLEKHG5 | c.2964C>T (p.Leu988=) c.3138C>T (p.Leu1046=) c.3075C>T (p.Leu1025=) n.3440C>T c.3171C>T (p.Leu1057=) c.3261C>T (p.Leu1087=) c.*3176C>T (n.*3176C>T) c.2271C>T (p.Leu757=) c.*2792C>T (n.*2792C>T) c.837C>T (p.Leu279=) c.2764C>T (p.Leu922=) c.2502C>T (p.Leu834=) c.3195C>T (p.Leu1065=) c.3132C>T (p.Leu1044=) n.2166C>T c.3201C>T (p.Leu1067=) | |
| 1 | g.6467872G>C | CA338113574 | PLEKHG5 | c.2964C>G (p.Leu988=) c.3138C>G (p.Leu1046=) c.3075C>G (p.Leu1025=) n.3440C>G c.3171C>G (p.Leu1057=) c.3261C>G (p.Leu1087=) c.*3176C>G (n.*3176C>G) c.2271C>G (p.Leu757=) c.*2792C>G (n.*2792C>G) c.837C>G (p.Leu279=) c.2764C>G (p.Leu922Val) c.2502C>G (p.Leu834=) c.3195C>G (p.Leu1065=) c.3132C>G (p.Leu1044=) n.2166C>G c.3201C>G (p.Leu1067=) | |
| 1 | g.6467872G>T | CA338113575 | PLEKHG5 | c.2964C>A (p.Leu988=) c.3138C>A (p.Leu1046=) c.3075C>A (p.Leu1025=) n.3440C>A c.3171C>A (p.Leu1057=) c.3261C>A (p.Leu1087=) c.*3176C>A (n.*3176C>A) c.2271C>A (p.Leu757=) c.*2792C>A (n.*2792C>A) c.837C>A (p.Leu279=) c.2764C>A (p.Leu922Ile) c.2502C>A (p.Leu834=) c.3195C>A (p.Leu1065=) c.3132C>A (p.Leu1044=) n.2166C>A c.3201C>A (p.Leu1067=) | |
| 1 | g.6467873A>C | CA338113578 | PLEKHG5 | c.2963T>G (p.Leu988Arg) c.3137T>G (p.Leu1046Arg) c.3074T>G (p.Leu1025Arg) n.3439T>G c.3170T>G (p.Leu1057Arg) c.3260T>G (p.Leu1087Arg) c.*3175T>G (n.*3175T>G) c.2270T>G (p.Leu757Arg) c.*2791T>G (n.*2791T>G) c.836T>G (p.Leu279Arg) c.2763T>G (p.Ala921=) c.2501T>G (p.Leu834Arg) c.3194T>G (p.Leu1065Arg) c.3131T>G (p.Leu1044Arg) n.2165T>G c.3200T>G (p.Leu1067Arg) | |
| 1 | g.6467873A>G | CA338113580 | PLEKHG5 | c.2963T>C (p.Leu988Pro) c.3137T>C (p.Leu1046Pro) c.3074T>C (p.Leu1025Pro) n.3439T>C c.3170T>C (p.Leu1057Pro) c.3260T>C (p.Leu1087Pro) c.*3175T>C (n.*3175T>C) c.2270T>C (p.Leu757Pro) c.*2791T>C (n.*2791T>C) c.836T>C (p.Leu279Pro) c.2763T>C (p.Ala921=) c.2501T>C (p.Leu834Pro) c.3194T>C (p.Leu1065Pro) c.3131T>C (p.Leu1044Pro) n.2165T>C c.3200T>C (p.Leu1067Pro) | |
| 1 | g.6467873A>T | CA338113576 | PLEKHG5 | c.2963T>A (p.Leu988His) c.3137T>A (p.Leu1046His) c.3074T>A (p.Leu1025His) n.3439T>A c.3170T>A (p.Leu1057His) c.3260T>A (p.Leu1087His) c.*3175T>A (n.*3175T>A) c.2270T>A (p.Leu757His) c.*2791T>A (n.*2791T>A) c.836T>A (p.Leu279His) c.2763T>A (p.Ala921=) c.2501T>A (p.Leu834His) c.3194T>A (p.Leu1065His) c.3131T>A (p.Leu1044His) n.2165T>A c.3200T>A (p.Leu1067His) | |
| 1 | g.6467874G>A | CA338113582 | PLEKHG5 | c.2962C>T (p.Leu988Phe) c.3136C>T (p.Leu1046Phe) c.3073C>T (p.Leu1025Phe) n.3438C>T c.3169C>T (p.Leu1057Phe) c.3259C>T (p.Leu1087Phe) c.*3174C>T (n.*3174C>T) c.2269C>T (p.Leu757Phe) c.*2790C>T (n.*2790C>T) c.835C>T (p.Leu279Phe) c.2762C>T (p.Ala921Val) c.2500C>T (p.Leu834Phe) c.3193C>T (p.Leu1065Phe) c.3130C>T (p.Leu1044Phe) n.2164C>T c.3199C>T (p.Leu1067Phe) | |
| 1 | g.6467874G>C | CA338113584 | PLEKHG5 | c.2962C>G (p.Leu988Val) c.3136C>G (p.Leu1046Val) c.3073C>G (p.Leu1025Val) n.3438C>G c.3169C>G (p.Leu1057Val) c.3259C>G (p.Leu1087Val) c.*3174C>G (n.*3174C>G) c.2269C>G (p.Leu757Val) c.*2790C>G (n.*2790C>G) c.835C>G (p.Leu279Val) c.2762C>G (p.Ala921Gly) c.2500C>G (p.Leu834Val) c.3193C>G (p.Leu1065Val) c.3130C>G (p.Leu1044Val) n.2164C>G c.3199C>G (p.Leu1067Val) | |
| 1 | g.6467874G>T | CA338113588 | PLEKHG5 | c.2962C>A (p.Leu988Ile) c.3136C>A (p.Leu1046Ile) c.3073C>A (p.Leu1025Ile) n.3438C>A c.3169C>A (p.Leu1057Ile) c.3259C>A (p.Leu1087Ile) c.*3174C>A (n.*3174C>A) c.2269C>A (p.Leu757Ile) c.*2790C>A (n.*2790C>A) c.835C>A (p.Leu279Ile) c.2762C>A (p.Ala921Asp) c.2500C>A (p.Leu834Ile) c.3193C>A (p.Leu1065Ile) c.3130C>A (p.Leu1044Ile) n.2164C>A c.3199C>A (p.Leu1067Ile) | gnomAD v4 |
| 1 | g.6467875C>A | CA17233187 | PLEKHG5 | c.2961G>T (p.Gln987His) c.3135G>T (p.Gln1045His) c.3072G>T (p.Gln1024His) n.3437G>T c.3168G>T (p.Gln1056His) c.3258G>T (p.Gln1086His) c.*3173G>T (n.*3173G>T) c.2268G>T (p.Gln756His) c.*2789G>T (n.*2789G>T) c.834G>T (p.Gln278His) c.2761G>T (p.Ala921Ser) c.2499G>T (p.Gln833His) c.3192G>T (p.Gln1064His) c.3129G>T (p.Gln1043His) n.2163G>T c.3198G>T (p.Gln1066His) | dbSNP |
| 1 | g.6467875C= | CA1151516381 | PLEKHG5 | c.2961G= (p.Gln987=) c.3135G= (p.Gln1045=) c.3072G= (p.Gln1024=) n.3437G= c.3168G= (p.Gln1056=) c.3258G= (p.Gln1086=) c.*3173G= (n.*3173G=) c.2268G= (p.Gln756=) c.*2789G= (n.*2789G=) c.834G= (p.Gln278=) c.2761G= (p.Ala921=) c.2499G= (p.Gln833=) c.3192G= (p.Gln1064=) c.3129G= (p.Gln1043=) n.2163G= c.3198G= (p.Gln1066=) | |
| 1 | g.6467875C>G | CA338113595 | PLEKHG5 | c.2961G>C (p.Gln987His) c.3135G>C (p.Gln1045His) c.3072G>C (p.Gln1024His) n.3437G>C c.3168G>C (p.Gln1056His) c.3258G>C (p.Gln1086His) c.*3173G>C (n.*3173G>C) c.2268G>C (p.Gln756His) c.*2789G>C (n.*2789G>C) c.834G>C (p.Gln278His) c.2761G>C (p.Ala921Pro) c.2499G>C (p.Gln833His) c.3192G>C (p.Gln1064His) c.3129G>C (p.Gln1043His) n.2163G>C c.3198G>C (p.Gln1066His) | |
| 1 | g.6467875C>T | CA338113597 | PLEKHG5 | c.2961G>A (p.Gln987=) c.3135G>A (p.Gln1045=) c.3072G>A (p.Gln1024=) n.3437G>A c.3168G>A (p.Gln1056=) c.3258G>A (p.Gln1086=) c.*3173G>A (n.*3173G>A) c.2268G>A (p.Gln756=) c.*2789G>A (n.*2789G>A) c.834G>A (p.Gln278=) c.2761G>A (p.Ala921Thr) c.2499G>A (p.Gln833=) c.3192G>A (p.Gln1064=) c.3129G>A (p.Gln1043=) n.2163G>A c.3198G>A (p.Gln1066=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467876T>A | CA338113605 | PLEKHG5 | c.2960A>T (p.Gln987Leu) c.3134A>T (p.Gln1045Leu) c.3071A>T (p.Gln1024Leu) n.3436A>T c.3167A>T (p.Gln1056Leu) c.3257A>T (p.Gln1086Leu) c.*3172A>T (n.*3172A>T) c.2267A>T (p.Gln756Leu) c.*2788A>T (n.*2788A>T) c.833A>T (p.Gln278Leu) c.2760A>T (p.Pro920=) c.2498A>T (p.Gln833Leu) c.3191A>T (p.Gln1064Leu) c.3128A>T (p.Gln1043Leu) n.2162A>T c.3197A>T (p.Gln1066Leu) | |
| 1 | g.6467876T>C | CA338113601 | PLEKHG5 | c.2960A>G (p.Gln987Arg) c.3134A>G (p.Gln1045Arg) c.3071A>G (p.Gln1024Arg) n.3436A>G c.3167A>G (p.Gln1056Arg) c.3257A>G (p.Gln1086Arg) c.*3172A>G (n.*3172A>G) c.2267A>G (p.Gln756Arg) c.*2788A>G (n.*2788A>G) c.833A>G (p.Gln278Arg) c.2760A>G (p.Pro920=) c.2498A>G (p.Gln833Arg) c.3191A>G (p.Gln1064Arg) c.3128A>G (p.Gln1043Arg) n.2162A>G c.3197A>G (p.Gln1066Arg) | |
| 1 | g.6467876T>G | CA338113603 | PLEKHG5 | c.2960A>C (p.Gln987Pro) c.3134A>C (p.Gln1045Pro) c.3071A>C (p.Gln1024Pro) n.3436A>C c.3167A>C (p.Gln1056Pro) c.3257A>C (p.Gln1086Pro) c.*3172A>C (n.*3172A>C) c.2267A>C (p.Gln756Pro) c.*2788A>C (n.*2788A>C) c.833A>C (p.Gln278Pro) c.2760A>C (p.Pro920=) c.2498A>C (p.Gln833Pro) c.3191A>C (p.Gln1064Pro) c.3128A>C (p.Gln1043Pro) n.2162A>C c.3197A>C (p.Gln1066Pro) | |
| 1 | g.6467877G>A | CA338113609 | PLEKHG5 | c.2959C>T (p.Gln987Ter) c.3133C>T (p.Gln1045Ter) c.3070C>T (p.Gln1024Ter) n.3435C>T c.3166C>T (p.Gln1056Ter) c.3256C>T (p.Gln1086Ter) c.*3171C>T (n.*3171C>T) c.2266C>T (p.Gln756Ter) c.*2787C>T (n.*2787C>T) c.832C>T (p.Gln278Ter) c.2759C>T (p.Pro920Leu) c.2497C>T (p.Gln833Ter) c.3190C>T (p.Gln1064Ter) c.3127C>T (p.Gln1043Ter) n.2161C>T c.3196C>T (p.Gln1066Ter) | gnomAD v4 |
| 1 | g.6467877G>C | CA338113611 | PLEKHG5 | c.2959C>G (p.Gln987Glu) c.3133C>G (p.Gln1045Glu) c.3070C>G (p.Gln1024Glu) n.3435C>G c.3166C>G (p.Gln1056Glu) c.3256C>G (p.Gln1086Glu) c.*3171C>G (n.*3171C>G) c.2266C>G (p.Gln756Glu) c.*2787C>G (n.*2787C>G) c.832C>G (p.Gln278Glu) c.2759C>G (p.Pro920Arg) c.2497C>G (p.Gln833Glu) c.3190C>G (p.Gln1064Glu) c.3127C>G (p.Gln1043Glu) n.2161C>G c.3196C>G (p.Gln1066Glu) | |
| 1 | g.6467877G>T | CA338113613 | PLEKHG5 | c.2959C>A (p.Gln987Lys) c.3133C>A (p.Gln1045Lys) c.3070C>A (p.Gln1024Lys) n.3435C>A c.3166C>A (p.Gln1056Lys) c.3256C>A (p.Gln1086Lys) c.*3171C>A (n.*3171C>A) c.2266C>A (p.Gln756Lys) c.*2787C>A (n.*2787C>A) c.832C>A (p.Gln278Lys) c.2759C>A (p.Pro920Gln) c.2497C>A (p.Gln833Lys) c.3190C>A (p.Gln1064Lys) c.3127C>A (p.Gln1043Lys) n.2161C>A c.3196C>A (p.Gln1066Lys) | |
| 1 | g.6467878G>A | CA561059 | PLEKHG5 | c.2958C>T (p.Ala986=) c.3132C>T (p.Ala1044=) c.3069C>T (p.Ala1023=) n.3434C>T c.3165C>T (p.Ala1055=) c.3255C>T (p.Ala1085=) c.*3170C>T (n.*3170C>T) c.2265C>T (p.Ala755=) c.*2786C>T (n.*2786C>T) c.831C>T (p.Ala277=) c.2758C>T (p.Pro920Ser) c.2496C>T (p.Ala832=) c.3189C>T (p.Ala1063=) c.3126C>T (p.Ala1042=) n.2160C>T c.3195C>T (p.Ala1065=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467878G>C | CA338113616 | PLEKHG5 | c.2958C>G (p.Ala986=) c.3132C>G (p.Ala1044=) c.3069C>G (p.Ala1023=) n.3434C>G c.3165C>G (p.Ala1055=) c.3255C>G (p.Ala1085=) c.*3170C>G (n.*3170C>G) c.2265C>G (p.Ala755=) c.*2786C>G (n.*2786C>G) c.831C>G (p.Ala277=) c.2758C>G (p.Pro920Ala) c.2496C>G (p.Ala832=) c.3189C>G (p.Ala1063=) c.3126C>G (p.Ala1042=) n.2160C>G c.3195C>G (p.Ala1065=) | |
| 1 | g.6467878G= | CA1151516383 | PLEKHG5 | c.2958C= (p.Ala986=) c.3132C= (p.Ala1044=) c.3069C= (p.Ala1023=) n.3434C= c.3165C= (p.Ala1055=) c.3255C= (p.Ala1085=) c.*3170C= (n.*3170C=) c.2265C= (p.Ala755=) c.*2786C= (n.*2786C=) c.831C= (p.Ala277=) c.2758C= (p.Pro920=) c.2496C= (p.Ala832=) c.3189C= (p.Ala1063=) c.3126C= (p.Ala1042=) n.2160C= c.3195C= (p.Ala1065=) | |
| 1 | g.6467878G>T | CA338113619 | PLEKHG5 | c.2958C>A (p.Ala986=) c.3132C>A (p.Ala1044=) c.3069C>A (p.Ala1023=) n.3434C>A c.3165C>A (p.Ala1055=) c.3255C>A (p.Ala1085=) c.*3170C>A (n.*3170C>A) c.2265C>A (p.Ala755=) c.*2786C>A (n.*2786C>A) c.831C>A (p.Ala277=) c.2758C>A (p.Pro920Thr) c.2496C>A (p.Ala832=) c.3189C>A (p.Ala1063=) c.3126C>A (p.Ala1042=) n.2160C>A c.3195C>A (p.Ala1065=) | |
| 1 | g.6467879G>A | CA338113623 | PLEKHG5 | c.2957C>T (p.Ala986Val) c.3131C>T (p.Ala1044Val) c.3068C>T (p.Ala1023Val) n.3433C>T c.3164C>T (p.Ala1055Val) c.3254C>T (p.Ala1085Val) c.*3169C>T (n.*3169C>T) c.2264C>T (p.Ala755Val) c.*2785C>T (n.*2785C>T) c.830C>T (p.Ala277Val) c.2757C>T (p.Gly919=) c.2495C>T (p.Ala832Val) c.3188C>T (p.Ala1063Val) c.3125C>T (p.Ala1042Val) n.2159C>T c.3194C>T (p.Ala1065Val) | gnomAD v4 |
| 1 | g.6467879G>C | CA338113643 | PLEKHG5 | c.2957C>G (p.Ala986Gly) c.3131C>G (p.Ala1044Gly) c.3068C>G (p.Ala1023Gly) n.3433C>G c.3164C>G (p.Ala1055Gly) c.3254C>G (p.Ala1085Gly) c.*3169C>G (n.*3169C>G) c.2264C>G (p.Ala755Gly) c.*2785C>G (n.*2785C>G) c.830C>G (p.Ala277Gly) c.2757C>G (p.Gly919=) c.2495C>G (p.Ala832Gly) c.3188C>G (p.Ala1063Gly) c.3125C>G (p.Ala1042Gly) n.2159C>G c.3194C>G (p.Ala1065Gly) | |
| 1 | g.6467879G>T | CA338113625 | PLEKHG5 | c.2957C>A (p.Ala986Asp) c.3131C>A (p.Ala1044Asp) c.3068C>A (p.Ala1023Asp) n.3433C>A c.3164C>A (p.Ala1055Asp) c.3254C>A (p.Ala1085Asp) c.*3169C>A (n.*3169C>A) c.2264C>A (p.Ala755Asp) c.*2785C>A (n.*2785C>A) c.830C>A (p.Ala277Asp) c.2757C>A (p.Gly919=) c.2495C>A (p.Ala832Asp) c.3188C>A (p.Ala1063Asp) c.3125C>A (p.Ala1042Asp) n.2159C>A c.3194C>A (p.Ala1065Asp) | |
| 1 | g.6467880C>A | CA338113649 | PLEKHG5 | c.2956G>T (p.Ala986Ser) c.3130G>T (p.Ala1044Ser) c.3067G>T (p.Ala1023Ser) n.3432G>T c.3163G>T (p.Ala1055Ser) c.3253G>T (p.Ala1085Ser) c.*3168G>T (n.*3168G>T) c.2263G>T (p.Ala755Ser) c.*2784G>T (n.*2784G>T) c.829G>T (p.Ala277Ser) c.2756G>T (p.Gly919Val) c.2494G>T (p.Ala832Ser) c.3187G>T (p.Ala1063Ser) c.3124G>T (p.Ala1042Ser) n.2158G>T c.3193G>T (p.Ala1065Ser) | |
| 1 | g.6467880C>G | CA338113652 | PLEKHG5 | c.2956G>C (p.Ala986Pro) c.3130G>C (p.Ala1044Pro) c.3067G>C (p.Ala1023Pro) n.3432G>C c.3163G>C (p.Ala1055Pro) c.3253G>C (p.Ala1085Pro) c.*3168G>C (n.*3168G>C) c.2263G>C (p.Ala755Pro) c.*2784G>C (n.*2784G>C) c.829G>C (p.Ala277Pro) c.2756G>C (p.Gly919Ala) c.2494G>C (p.Ala832Pro) c.3187G>C (p.Ala1063Pro) c.3124G>C (p.Ala1042Pro) n.2158G>C c.3193G>C (p.Ala1065Pro) | |
| 1 | g.6467880C>T | CA338113655 | PLEKHG5 | c.2956G>A (p.Ala986Thr) c.3130G>A (p.Ala1044Thr) c.3067G>A (p.Ala1023Thr) n.3432G>A c.3163G>A (p.Ala1055Thr) c.3253G>A (p.Ala1085Thr) c.*3168G>A (n.*3168G>A) c.2263G>A (p.Ala755Thr) c.*2784G>A (n.*2784G>A) c.829G>A (p.Ala277Thr) c.2756G>A (p.Gly919Asp) c.2494G>A (p.Ala832Thr) c.3187G>A (p.Ala1063Thr) c.3124G>A (p.Ala1042Thr) n.2158G>A c.3193G>A (p.Ala1065Thr) | ClinVar gnomAD v4 |
| 1 | g.6467881C>A | CA338113658 | PLEKHG5 | c.2955G>T (p.Leu985=) c.3129G>T (p.Leu1043=) c.3066G>T (p.Leu1022=) n.3431G>T c.3162G>T (p.Leu1054=) c.3252G>T (p.Leu1084=) c.*3167G>T (n.*3167G>T) c.2262G>T (p.Leu754=) c.*2783G>T (n.*2783G>T) c.828G>T (p.Leu276=) c.2755G>T (p.Gly919Cys) c.2493G>T (p.Leu831=) c.3186G>T (p.Leu1062=) c.3123G>T (p.Leu1041=) n.2157G>T c.3192G>T (p.Leu1064=) | |
| 1 | g.6467881C>G | CA338113660 | PLEKHG5 | c.2955G>C (p.Leu985=) c.3129G>C (p.Leu1043=) c.3066G>C (p.Leu1022=) n.3431G>C c.3162G>C (p.Leu1054=) c.3252G>C (p.Leu1084=) c.*3167G>C (n.*3167G>C) c.2262G>C (p.Leu754=) c.*2783G>C (n.*2783G>C) c.828G>C (p.Leu276=) c.2755G>C (p.Gly919Arg) c.2493G>C (p.Leu831=) c.3186G>C (p.Leu1062=) c.3123G>C (p.Leu1041=) n.2157G>C c.3192G>C (p.Leu1064=) | |
| 1 | g.6467881C>T | CA338113663 | PLEKHG5 | c.2955G>A (p.Leu985=) c.3129G>A (p.Leu1043=) c.3066G>A (p.Leu1022=) n.3431G>A c.3162G>A (p.Leu1054=) c.3252G>A (p.Leu1084=) c.*3167G>A (n.*3167G>A) c.2262G>A (p.Leu754=) c.*2783G>A (n.*2783G>A) c.828G>A (p.Leu276=) c.2755G>A (p.Gly919Ser) c.2493G>A (p.Leu831=) c.3186G>A (p.Leu1062=) c.3123G>A (p.Leu1041=) n.2157G>A c.3192G>A (p.Leu1064=) | |
| 1 | g.6467882A>C | CA338113667 | PLEKHG5 | c.2954T>G (p.Leu985Arg) c.3128T>G (p.Leu1043Arg) c.3065T>G (p.Leu1022Arg) n.3430T>G c.3161T>G (p.Leu1054Arg) c.3251T>G (p.Leu1084Arg) c.*3166T>G (n.*3166T>G) c.2261T>G (p.Leu754Arg) c.*2782T>G (n.*2782T>G) c.827T>G (p.Leu276Arg) c.2754T>G (p.Pro918=) c.2492T>G (p.Leu831Arg) c.3185T>G (p.Leu1062Arg) c.3122T>G (p.Leu1041Arg) n.2156T>G c.3191T>G (p.Leu1064Arg) | |
| 1 | g.6467882A>G | CA338113671 | PLEKHG5 | c.2954T>C (p.Leu985Pro) c.3128T>C (p.Leu1043Pro) c.3065T>C (p.Leu1022Pro) n.3430T>C c.3161T>C (p.Leu1054Pro) c.3251T>C (p.Leu1084Pro) c.*3166T>C (n.*3166T>C) c.2261T>C (p.Leu754Pro) c.*2782T>C (n.*2782T>C) c.827T>C (p.Leu276Pro) c.2754T>C (p.Pro918=) c.2492T>C (p.Leu831Pro) c.3185T>C (p.Leu1062Pro) c.3122T>C (p.Leu1041Pro) n.2156T>C c.3191T>C (p.Leu1064Pro) | gnomAD v4 |
| 1 | g.6467882A>T | CA338113672 | PLEKHG5 | c.2954T>A (p.Leu985Gln) c.3128T>A (p.Leu1043Gln) c.3065T>A (p.Leu1022Gln) n.3430T>A c.3161T>A (p.Leu1054Gln) c.3251T>A (p.Leu1084Gln) c.*3166T>A (n.*3166T>A) c.2261T>A (p.Leu754Gln) c.*2782T>A (n.*2782T>A) c.827T>A (p.Leu276Gln) c.2754T>A (p.Pro918=) c.2492T>A (p.Leu831Gln) c.3185T>A (p.Leu1062Gln) c.3122T>A (p.Leu1041Gln) n.2156T>A c.3191T>A (p.Leu1064Gln) | |
| 1 | g.6467883G>A | CA338113676 | PLEKHG5 | c.2953C>T (p.Leu985=) c.3127C>T (p.Leu1043=) c.3064C>T (p.Leu1022=) n.3429C>T c.3160C>T (p.Leu1054=) c.3250C>T (p.Leu1084=) c.*3165C>T (n.*3165C>T) c.2260C>T (p.Leu754=) c.*2781C>T (n.*2781C>T) c.826C>T (p.Leu276=) c.2753C>T (p.Pro918Leu) c.2491C>T (p.Leu831=) c.3184C>T (p.Leu1062=) c.3121C>T (p.Leu1041=) n.2155C>T c.3190C>T (p.Leu1064=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6467883G>C | CA338113679 | PLEKHG5 | c.2953C>G (p.Leu985Val) c.3127C>G (p.Leu1043Val) c.3064C>G (p.Leu1022Val) n.3429C>G c.3160C>G (p.Leu1054Val) c.3250C>G (p.Leu1084Val) c.*3165C>G (n.*3165C>G) c.2260C>G (p.Leu754Val) c.*2781C>G (n.*2781C>G) c.826C>G (p.Leu276Val) c.2753C>G (p.Pro918Arg) c.2491C>G (p.Leu831Val) c.3184C>G (p.Leu1062Val) c.3121C>G (p.Leu1041Val) n.2155C>G c.3190C>G (p.Leu1064Val) | |
| 1 | g.6467883G= | CA1151516386 | PLEKHG5 | c.2953C= (p.Leu985=) c.3127C= (p.Leu1043=) c.3064C= (p.Leu1022=) n.3429C= c.3160C= (p.Leu1054=) c.3250C= (p.Leu1084=) c.*3165C= (n.*3165C=) c.2260C= (p.Leu754=) c.*2781C= (n.*2781C=) c.826C= (p.Leu276=) c.2753C= (p.Pro918=) c.2491C= (p.Leu831=) c.3184C= (p.Leu1062=) c.3121C= (p.Leu1041=) n.2155C= c.3190C= (p.Leu1064=) | |
| 1 | g.6467883G>T | CA338113683 | PLEKHG5 | c.2953C>A (p.Leu985Met) c.3127C>A (p.Leu1043Met) c.3064C>A (p.Leu1022Met) n.3429C>A c.3160C>A (p.Leu1054Met) c.3250C>A (p.Leu1084Met) c.*3165C>A (n.*3165C>A) c.2260C>A (p.Leu754Met) c.*2781C>A (n.*2781C>A) c.826C>A (p.Leu276Met) c.2753C>A (p.Pro918His) c.2491C>A (p.Leu831Met) c.3184C>A (p.Leu1062Met) c.3121C>A (p.Leu1041Met) n.2155C>A c.3190C>A (p.Leu1064Met) | |
| 1 | g.6467884G>A | CA10611369 | PLEKHG5 | c.2952C>T (p.Thr984=) c.3126C>T (p.Thr1042=) c.3063C>T (p.Thr1021=) n.3428C>T c.3159C>T (p.Thr1053=) c.3249C>T (p.Thr1083=) c.*3164C>T (n.*3164C>T) c.2259C>T (p.Thr753=) c.*2780C>T (n.*2780C>T) c.825C>T (p.Thr275=) c.2752C>T (p.Pro918Ser) c.2490C>T (p.Thr830=) c.3183C>T (p.Thr1061=) c.3120C>T (p.Thr1040=) n.2154C>T c.3189C>T (p.Thr1063=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6467884G>C | CA338113691 | PLEKHG5 | c.2952C>G (p.Thr984=) c.3126C>G (p.Thr1042=) c.3063C>G (p.Thr1021=) n.3428C>G c.3159C>G (p.Thr1053=) c.3249C>G (p.Thr1083=) c.*3164C>G (n.*3164C>G) c.2259C>G (p.Thr753=) c.*2780C>G (n.*2780C>G) c.825C>G (p.Thr275=) c.2752C>G (p.Pro918Ala) c.2490C>G (p.Thr830=) c.3183C>G (p.Thr1061=) c.3120C>G (p.Thr1040=) n.2154C>G c.3189C>G (p.Thr1063=) | |
| 1 | g.6467884G= | CA1151516396 | PLEKHG5 | c.2952C= (p.Thr984=) c.3126C= (p.Thr1042=) c.3063C= (p.Thr1021=) n.3428C= c.3159C= (p.Thr1053=) c.3249C= (p.Thr1083=) c.*3164C= (n.*3164C=) c.2259C= (p.Thr753=) c.*2780C= (n.*2780C=) c.825C= (p.Thr275=) c.2752C= (p.Pro918=) c.2490C= (p.Thr830=) c.3183C= (p.Thr1061=) c.3120C= (p.Thr1040=) n.2154C= c.3189C= (p.Thr1063=) | |
| 1 | g.6467884G>T | CA338113689 | PLEKHG5 | c.2952C>A (p.Thr984=) c.3126C>A (p.Thr1042=) c.3063C>A (p.Thr1021=) n.3428C>A c.3159C>A (p.Thr1053=) c.3249C>A (p.Thr1083=) c.*3164C>A (n.*3164C>A) c.2259C>A (p.Thr753=) c.*2780C>A (n.*2780C>A) c.825C>A (p.Thr275=) c.2752C>A (p.Pro918Thr) c.2490C>A (p.Thr830=) c.3183C>A (p.Thr1061=) c.3120C>A (p.Thr1040=) n.2154C>A c.3189C>A (p.Thr1063=) | |
| 1 | g.6467885G>A | CA338113692 | PLEKHG5 | c.2951C>T (p.Thr984Ile) c.3125C>T (p.Thr1042Ile) c.3062C>T (p.Thr1021Ile) n.3427C>T c.3158C>T (p.Thr1053Ile) c.3248C>T (p.Thr1083Ile) c.*3163C>T (n.*3163C>T) c.2258C>T (p.Thr753Ile) c.*2779C>T (n.*2779C>T) c.824C>T (p.Thr275Ile) c.2751C>T (p.Asp917=) c.2489C>T (p.Thr830Ile) c.3182C>T (p.Thr1061Ile) c.3119C>T (p.Thr1040Ile) n.2153C>T c.3188C>T (p.Thr1063Ile) | |
| 1 | g.6467885G>C | CA338113693 | PLEKHG5 | c.2951C>G (p.Thr984Ser) c.3125C>G (p.Thr1042Ser) c.3062C>G (p.Thr1021Ser) n.3427C>G c.3158C>G (p.Thr1053Ser) c.3248C>G (p.Thr1083Ser) c.*3163C>G (n.*3163C>G) c.2258C>G (p.Thr753Ser) c.*2779C>G (n.*2779C>G) c.824C>G (p.Thr275Ser) c.2751C>G (p.Asp917Glu) c.2489C>G (p.Thr830Ser) c.3182C>G (p.Thr1061Ser) c.3119C>G (p.Thr1040Ser) n.2153C>G c.3188C>G (p.Thr1063Ser) | |
| 1 | g.6467885G>T | CA338113694 | PLEKHG5 | c.2951C>A (p.Thr984Asn) c.3125C>A (p.Thr1042Asn) c.3062C>A (p.Thr1021Asn) n.3427C>A c.3158C>A (p.Thr1053Asn) c.3248C>A (p.Thr1083Asn) c.*3163C>A (n.*3163C>A) c.2258C>A (p.Thr753Asn) c.*2779C>A (n.*2779C>A) c.824C>A (p.Thr275Asn) c.2751C>A (p.Asp917Glu) c.2489C>A (p.Thr830Asn) c.3182C>A (p.Thr1061Asn) c.3119C>A (p.Thr1040Asn) n.2153C>A c.3188C>A (p.Thr1063Asn) | |
| 1 | g.6467886T>A | CA338113696 | PLEKHG5 | c.2950A>T (p.Thr984Ser) c.3124A>T (p.Thr1042Ser) c.3061A>T (p.Thr1021Ser) n.3426A>T c.3157A>T (p.Thr1053Ser) c.3247A>T (p.Thr1083Ser) c.*3162A>T (n.*3162A>T) c.2257A>T (p.Thr753Ser) c.*2778A>T (n.*2778A>T) c.823A>T (p.Thr275Ser) c.2750A>T (p.Asp917Val) c.2488A>T (p.Thr830Ser) c.3181A>T (p.Thr1061Ser) c.3118A>T (p.Thr1040Ser) n.2152A>T c.3187A>T (p.Thr1063Ser) | |
| 1 | g.6467886T>C | CA338113698 | PLEKHG5 | c.2950A>G (p.Thr984Ala) c.3124A>G (p.Thr1042Ala) c.3061A>G (p.Thr1021Ala) n.3426A>G c.3157A>G (p.Thr1053Ala) c.3247A>G (p.Thr1083Ala) c.*3162A>G (n.*3162A>G) c.2257A>G (p.Thr753Ala) c.*2778A>G (n.*2778A>G) c.823A>G (p.Thr275Ala) c.2750A>G (p.Asp917Gly) c.2488A>G (p.Thr830Ala) c.3181A>G (p.Thr1061Ala) c.3118A>G (p.Thr1040Ala) n.2152A>G c.3187A>G (p.Thr1063Ala) | gnomAD v4 |
| 1 | g.6467886T>G | CA338113700 | PLEKHG5 | c.2950A>C (p.Thr984Pro) c.3124A>C (p.Thr1042Pro) c.3061A>C (p.Thr1021Pro) n.3426A>C c.3157A>C (p.Thr1053Pro) c.3247A>C (p.Thr1083Pro) c.*3162A>C (n.*3162A>C) c.2257A>C (p.Thr753Pro) c.*2778A>C (n.*2778A>C) c.823A>C (p.Thr275Pro) c.2750A>C (p.Asp917Ala) c.2488A>C (p.Thr830Pro) c.3181A>C (p.Thr1061Pro) c.3118A>C (p.Thr1040Pro) n.2152A>C c.3187A>C (p.Thr1063Pro) | |
| 1 | g.6467887C>A | CA338113704 | PLEKHG5 | c.2949G>T (p.Leu983=) c.3123G>T (p.Leu1041=) c.3060G>T (p.Leu1020=) n.3425G>T c.3156G>T (p.Leu1052=) c.3246G>T (p.Leu1082=) c.*3161G>T (n.*3161G>T) c.2256G>T (p.Leu752=) c.*2777G>T (n.*2777G>T) c.822G>T (p.Leu274=) c.2749G>T (p.Asp917Tyr) c.2487G>T (p.Leu829=) c.3180G>T (p.Leu1060=) c.3117G>T (p.Leu1039=) n.2151G>T c.3186G>T (p.Leu1062=) | |
| 1 | g.6467887C>G | CA338113710 | PLEKHG5 | c.2949G>C (p.Leu983=) c.3123G>C (p.Leu1041=) c.3060G>C (p.Leu1020=) n.3425G>C c.3156G>C (p.Leu1052=) c.3246G>C (p.Leu1082=) c.*3161G>C (n.*3161G>C) c.2256G>C (p.Leu752=) c.*2777G>C (n.*2777G>C) c.822G>C (p.Leu274=) c.2749G>C (p.Asp917His) c.2487G>C (p.Leu829=) c.3180G>C (p.Leu1060=) c.3117G>C (p.Leu1039=) n.2151G>C c.3186G>C (p.Leu1062=) | |
| 1 | g.6467887C>T | CA338113713 | PLEKHG5 | c.2949G>A (p.Leu983=) c.3123G>A (p.Leu1041=) c.3060G>A (p.Leu1020=) n.3425G>A c.3156G>A (p.Leu1052=) c.3246G>A (p.Leu1082=) c.*3161G>A (n.*3161G>A) c.2256G>A (p.Leu752=) c.*2777G>A (n.*2777G>A) c.822G>A (p.Leu274=) c.2749G>A (p.Asp917Asn) c.2487G>A (p.Leu829=) c.3180G>A (p.Leu1060=) c.3117G>A (p.Leu1039=) n.2151G>A c.3186G>A (p.Leu1062=) | gnomAD v4 |
| 1 | g.6467888A>C | CA338113715 | PLEKHG5 | c.2948T>G (p.Leu983Arg) c.3122T>G (p.Leu1041Arg) c.3059T>G (p.Leu1020Arg) n.3424T>G c.3155T>G (p.Leu1052Arg) c.3245T>G (p.Leu1082Arg) c.*3160T>G (n.*3160T>G) c.2255T>G (p.Leu752Arg) c.*2776T>G (n.*2776T>G) c.821T>G (p.Leu274Arg) c.2748T>G (p.Ala916=) c.2486T>G (p.Leu829Arg) c.3179T>G (p.Leu1060Arg) c.3116T>G (p.Leu1039Arg) n.2150T>G c.3185T>G (p.Leu1062Arg) | |
| 1 | g.6467888A>G | CA338113719 | PLEKHG5 | c.2948T>C (p.Leu983Pro) c.3122T>C (p.Leu1041Pro) c.3059T>C (p.Leu1020Pro) n.3424T>C c.3155T>C (p.Leu1052Pro) c.3245T>C (p.Leu1082Pro) c.*3160T>C (n.*3160T>C) c.2255T>C (p.Leu752Pro) c.*2776T>C (n.*2776T>C) c.821T>C (p.Leu274Pro) c.2748T>C (p.Ala916=) c.2486T>C (p.Leu829Pro) c.3179T>C (p.Leu1060Pro) c.3116T>C (p.Leu1039Pro) n.2150T>C c.3185T>C (p.Leu1062Pro) | |
| 1 | g.6467888A>T | CA338113722 | PLEKHG5 | c.2948T>A (p.Leu983Gln) c.3122T>A (p.Leu1041Gln) c.3059T>A (p.Leu1020Gln) n.3424T>A c.3155T>A (p.Leu1052Gln) c.3245T>A (p.Leu1082Gln) c.*3160T>A (n.*3160T>A) c.2255T>A (p.Leu752Gln) c.*2776T>A (n.*2776T>A) c.821T>A (p.Leu274Gln) c.2748T>A (p.Ala916=) c.2486T>A (p.Leu829Gln) c.3179T>A (p.Leu1060Gln) c.3116T>A (p.Leu1039Gln) n.2150T>A c.3185T>A (p.Leu1062Gln) | |
| 1 | g.6467889G>A | CA338113727 | PLEKHG5 | c.2947C>T (p.Leu983=) c.3121C>T (p.Leu1041=) c.3058C>T (p.Leu1020=) n.3423C>T c.3154C>T (p.Leu1052=) c.3244C>T (p.Leu1082=) c.*3159C>T (n.*3159C>T) c.2254C>T (p.Leu752=) c.*2775C>T (n.*2775C>T) c.820C>T (p.Leu274=) c.2747C>T (p.Ala916Val) c.2485C>T (p.Leu829=) c.3178C>T (p.Leu1060=) c.3115C>T (p.Leu1039=) n.2149C>T c.3184C>T (p.Leu1062=) | |
| 1 | g.6467889G>C | CA338113726 | PLEKHG5 | c.2947C>G (p.Leu983Val) c.3121C>G (p.Leu1041Val) c.3058C>G (p.Leu1020Val) n.3423C>G c.3154C>G (p.Leu1052Val) c.3244C>G (p.Leu1082Val) c.*3159C>G (n.*3159C>G) c.2254C>G (p.Leu752Val) c.*2775C>G (n.*2775C>G) c.820C>G (p.Leu274Val) c.2747C>G (p.Ala916Gly) c.2485C>G (p.Leu829Val) c.3178C>G (p.Leu1060Val) c.3115C>G (p.Leu1039Val) n.2149C>G c.3184C>G (p.Leu1062Val) | |
| 1 | g.6467889G>T | CA338113724 | PLEKHG5 | c.2947C>A (p.Leu983Met) c.3121C>A (p.Leu1041Met) c.3058C>A (p.Leu1020Met) n.3423C>A c.3154C>A (p.Leu1052Met) c.3244C>A (p.Leu1082Met) c.*3159C>A (n.*3159C>A) c.2254C>A (p.Leu752Met) c.*2775C>A (n.*2775C>A) c.820C>A (p.Leu274Met) c.2747C>A (p.Ala916Asp) c.2485C>A (p.Leu829Met) c.3178C>A (p.Leu1060Met) c.3115C>A (p.Leu1039Met) n.2149C>A c.3184C>A (p.Leu1062Met) | |
| 1 | g.6467890C>A | CA338113730 | PLEKHG5 | c.2946G>T (p.Lys982Asn) c.3120G>T (p.Lys1040Asn) c.3057G>T (p.Lys1019Asn) n.3422G>T c.3153G>T (p.Lys1051Asn) c.3243G>T (p.Lys1081Asn) c.*3158G>T (n.*3158G>T) c.2253G>T (p.Lys751Asn) c.*2774G>T (n.*2774G>T) c.819G>T (p.Lys273Asn) c.2746G>T (p.Ala916Ser) c.2484G>T (p.Lys828Asn) c.3177G>T (p.Lys1059Asn) c.3114G>T (p.Lys1038Asn) n.2148G>T c.3183G>T (p.Lys1061Asn) | gnomAD v4 |
| 1 | g.6467890C= | CA1151516399 | PLEKHG5 | c.2946G= (p.Lys982=) c.3120G= (p.Lys1040=) c.3057G= (p.Lys1019=) n.3422G= c.3153G= (p.Lys1051=) c.3243G= (p.Lys1081=) c.*3158G= (n.*3158G=) c.2253G= (p.Lys751=) c.*2774G= (n.*2774G=) c.819G= (p.Lys273=) c.2746G= (p.Ala916=) c.2484G= (p.Lys828=) c.3177G= (p.Lys1059=) c.3114G= (p.Lys1038=) n.2148G= c.3183G= (p.Lys1061=) | |
| 1 | g.6467890C>G | CA338113733 | PLEKHG5 | c.2946G>C (p.Lys982Asn) c.3120G>C (p.Lys1040Asn) c.3057G>C (p.Lys1019Asn) n.3422G>C c.3153G>C (p.Lys1051Asn) c.3243G>C (p.Lys1081Asn) c.*3158G>C (n.*3158G>C) c.2253G>C (p.Lys751Asn) c.*2774G>C (n.*2774G>C) c.819G>C (p.Lys273Asn) c.2746G>C (p.Ala916Pro) c.2484G>C (p.Lys828Asn) c.3177G>C (p.Lys1059Asn) c.3114G>C (p.Lys1038Asn) n.2148G>C c.3183G>C (p.Lys1061Asn) | |
| 1 | g.6467890C>T | CA338113736 | PLEKHG5 | c.2946G>A (p.Lys982=) c.3120G>A (p.Lys1040=) c.3057G>A (p.Lys1019=) n.3422G>A c.3153G>A (p.Lys1051=) c.3243G>A (p.Lys1081=) c.*3158G>A (n.*3158G>A) c.2253G>A (p.Lys751=) c.*2774G>A (n.*2774G>A) c.819G>A (p.Lys273=) c.2746G>A (p.Ala916Thr) c.2484G>A (p.Lys828=) c.3177G>A (p.Lys1059=) c.3114G>A (p.Lys1038=) n.2148G>A c.3183G>A (p.Lys1061=) | dbSNP |
| 1 | g.6467891T>A | CA338113739 | PLEKHG5 | c.2945A>T (p.Lys982Met) c.3119A>T (p.Lys1040Met) c.3056A>T (p.Lys1019Met) n.3421A>T c.3152A>T (p.Lys1051Met) c.3242A>T (p.Lys1081Met) c.*3157A>T (n.*3157A>T) c.2252A>T (p.Lys751Met) c.*2773A>T (n.*2773A>T) c.818A>T (p.Lys273Met) c.2745A>T (p.Glu915Asp) c.2483A>T (p.Lys828Met) c.3176A>T (p.Lys1059Met) c.3113A>T (p.Lys1038Met) n.2147A>T c.3182A>T (p.Lys1061Met) | |
| 1 | g.6467891T>C | CA338113742 | PLEKHG5 | c.2945A>G (p.Lys982Arg) c.3119A>G (p.Lys1040Arg) c.3056A>G (p.Lys1019Arg) n.3421A>G c.3152A>G (p.Lys1051Arg) c.3242A>G (p.Lys1081Arg) c.*3157A>G (n.*3157A>G) c.2252A>G (p.Lys751Arg) c.*2773A>G (n.*2773A>G) c.818A>G (p.Lys273Arg) c.2745A>G (p.Glu915=) c.2483A>G (p.Lys828Arg) c.3176A>G (p.Lys1059Arg) c.3113A>G (p.Lys1038Arg) n.2147A>G c.3182A>G (p.Lys1061Arg) | dbSNP |
| 1 | g.6467891T>G | CA338113747 | PLEKHG5 | c.2945A>C (p.Lys982Thr) c.3119A>C (p.Lys1040Thr) c.3056A>C (p.Lys1019Thr) n.3421A>C c.3152A>C (p.Lys1051Thr) c.3242A>C (p.Lys1081Thr) c.*3157A>C (n.*3157A>C) c.2252A>C (p.Lys751Thr) c.*2773A>C (n.*2773A>C) c.818A>C (p.Lys273Thr) c.2745A>C (p.Glu915Asp) c.2483A>C (p.Lys828Thr) c.3176A>C (p.Lys1059Thr) c.3113A>C (p.Lys1038Thr) n.2147A>C c.3182A>C (p.Lys1061Thr) | |
| 1 | g.6467891T= | CA1151516406 | PLEKHG5 | c.2945A= (p.Lys982=) c.3119A= (p.Lys1040=) c.3056A= (p.Lys1019=) n.3421A= c.3152A= (p.Lys1051=) c.3242A= (p.Lys1081=) c.*3157A= (n.*3157A=) c.2252A= (p.Lys751=) c.*2773A= (n.*2773A=) c.818A= (p.Lys273=) c.2745A= (p.Glu915=) c.2483A= (p.Lys828=) c.3176A= (p.Lys1059=) c.3113A= (p.Lys1038=) n.2147A= c.3182A= (p.Lys1061=) | |
| 1 | g.6467892del | CA2740090570 | PLEKHG5 | c.2945del (p.Lys982SerfsTer2) c.3119del (p.Lys1040SerfsTer2) c.3056del (p.Lys1019SerfsTer2) n.3421del c.3152del (p.Lys1051SerfsTer2) c.3242del (p.Lys1081SerfsTer2) c.*3157del (n.*3157del) c.2252del (p.Lys751SerfsTer2) c.*2773del (n.*2773del) c.818del (p.Lys273SerfsTer2) c.2745del (p.Ala916LeufsTer25) c.2483del (p.Lys828SerfsTer2) c.3176del (p.Lys1059SerfsTer2) c.3113del (p.Lys1038SerfsTer2) n.2147del c.3182del (p.Lys1061SerfsTer2) | ClinVar |
| 1 | g.6467892T>A | CA338113749 | PLEKHG5 | c.2944A>T (p.Lys982Ter) c.3118A>T (p.Lys1040Ter) c.3055A>T (p.Lys1019Ter) n.3420A>T c.3151A>T (p.Lys1051Ter) c.3241A>T (p.Lys1081Ter) c.*3156A>T (n.*3156A>T) c.2251A>T (p.Lys751Ter) c.*2772A>T (n.*2772A>T) c.817A>T (p.Lys273Ter) c.2744A>T (p.Glu915Val) c.2482A>T (p.Lys828Ter) c.3175A>T (p.Lys1059Ter) c.3112A>T (p.Lys1038Ter) n.2146A>T c.3181A>T (p.Lys1061Ter) | |
| 1 | g.6467892T>C | CA561060 | PLEKHG5 | c.2944A>G (p.Lys982Glu) c.3118A>G (p.Lys1040Glu) c.3055A>G (p.Lys1019Glu) n.3420A>G c.3151A>G (p.Lys1051Glu) c.3241A>G (p.Lys1081Glu) c.*3156A>G (n.*3156A>G) c.2251A>G (p.Lys751Glu) c.*2772A>G (n.*2772A>G) c.817A>G (p.Lys273Glu) c.2744A>G (p.Glu915Gly) c.2482A>G (p.Lys828Glu) c.3175A>G (p.Lys1059Glu) c.3112A>G (p.Lys1038Glu) n.2146A>G c.3181A>G (p.Lys1061Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6467892T>G | CA338113754 | PLEKHG5 | c.2944A>C (p.Lys982Gln) c.3118A>C (p.Lys1040Gln) c.3055A>C (p.Lys1019Gln) n.3420A>C c.3151A>C (p.Lys1051Gln) c.3241A>C (p.Lys1081Gln) c.*3156A>C (n.*3156A>C) c.2251A>C (p.Lys751Gln) c.*2772A>C (n.*2772A>C) c.817A>C (p.Lys273Gln) c.2744A>C (p.Glu915Ala) c.2482A>C (p.Lys828Gln) c.3175A>C (p.Lys1059Gln) c.3112A>C (p.Lys1038Gln) n.2146A>C c.3181A>C (p.Lys1061Gln) | |
| 1 | g.6467892T= | CA1151516412 | PLEKHG5 | c.2944A= (p.Lys982=) c.3118A= (p.Lys1040=) c.3055A= (p.Lys1019=) n.3420A= c.3151A= (p.Lys1051=) c.3241A= (p.Lys1081=) c.*3156A= (n.*3156A=) c.2251A= (p.Lys751=) c.*2772A= (n.*2772A=) c.817A= (p.Lys273=) c.2744A= (p.Glu915=) c.2482A= (p.Lys828=) c.3175A= (p.Lys1059=) c.3112A= (p.Lys1038=) n.2146A= c.3181A= (p.Lys1061=) | |
| 1 | g.6467893C>A | CA338113756 | PLEKHG5 | c.2943G>T (p.Arg981Ser) c.3117G>T (p.Arg1039Ser) c.3054G>T (p.Arg1018Ser) n.3419G>T c.3150G>T (p.Arg1050Ser) c.3240G>T (p.Arg1080Ser) c.*3155G>T (n.*3155G>T) c.2250G>T (p.Trp750Cys) c.*2771G>T (n.*2771G>T) c.816G>T (p.Arg272Ser) c.2743G>T (p.Glu915Ter) c.2481G>T (p.Trp827Cys) c.3174G>T (p.Arg1058Ser) c.3111G>T (p.Arg1037Ser) n.2145G>T c.3180G>T (p.Arg1060Ser) | |
| 1 | g.6467893C>G | CA338113761 | PLEKHG5 | c.2943G>C (p.Arg981Ser) c.3117G>C (p.Arg1039Ser) c.3054G>C (p.Arg1018Ser) n.3419G>C c.3150G>C (p.Arg1050Ser) c.3240G>C (p.Arg1080Ser) c.*3155G>C (n.*3155G>C) c.2250G>C (p.Trp750Cys) c.*2771G>C (n.*2771G>C) c.816G>C (p.Arg272Ser) c.2743G>C (p.Glu915Gln) c.2481G>C (p.Trp827Cys) c.3174G>C (p.Arg1058Ser) c.3111G>C (p.Arg1037Ser) n.2145G>C c.3180G>C (p.Arg1060Ser) | |
| 1 | g.6467893C>T | CA338113763 | PLEKHG5 | c.2943G>A (p.Arg981=) c.3117G>A (p.Arg1039=) c.3054G>A (p.Arg1018=) n.3419G>A c.3150G>A (p.Arg1050=) c.3240G>A (p.Arg1080=) c.*3155G>A (n.*3155G>A) c.2250G>A (p.Trp750Ter) c.*2771G>A (n.*2771G>A) c.816G>A (p.Arg272=) c.2743G>A (p.Glu915Lys) c.2481G>A (p.Trp827Ter) c.3174G>A (p.Arg1058=) c.3111G>A (p.Arg1037=) n.2145G>A c.3180G>A (p.Arg1060=) | |
| 1 | g.6467894C>A | CA338113772 | PLEKHG5 | c.2942G>T (p.Arg981Met) c.3116G>T (p.Arg1039Met) c.3053G>T (p.Arg1018Met) n.3418G>T c.3149G>T (p.Arg1050Met) c.3239G>T (p.Arg1080Met) c.*3154G>T (n.*3154G>T) c.2250-1G>T (n.2250-1G>T) c.*2770G>T (n.*2770G>T) c.815G>T (p.Arg272Met) c.2742G>T (p.Gln914His) c.2481-1G>T (n.2481-1G>T) c.3173G>T (p.Arg1058Met) c.3110G>T (p.Arg1037Met) n.2144G>T c.3179G>T (p.Arg1060Met) | dbSNP |
| 1 | g.6467894C= | CA1151516417 | PLEKHG5 | c.2942G= (p.Arg981=) c.3116G= (p.Arg1039=) c.3053G= (p.Arg1018=) n.3418G= c.3149G= (p.Arg1050=) c.3239G= (p.Arg1080=) c.*3154G= (n.*3154G=) c.2250-1G= (n.2250-1G=) c.*2770G= (n.*2770G=) c.815G= (p.Arg272=) c.2742G= (p.Gln914=) c.2481-1G= (n.2481-1G=) c.3173G= (p.Arg1058=) c.3110G= (p.Arg1037=) n.2144G= c.3179G= (p.Arg1060=) | |
| 1 | g.6467894C>G | CA338113769 | PLEKHG5 | c.2942G>C (p.Arg981Thr) c.3116G>C (p.Arg1039Thr) c.3053G>C (p.Arg1018Thr) n.3418G>C c.3149G>C (p.Arg1050Thr) c.3239G>C (p.Arg1080Thr) c.*3154G>C (n.*3154G>C) c.2250-1G>C (n.2250-1G>C) c.*2770G>C (n.*2770G>C) c.815G>C (p.Arg272Thr) c.2742G>C (p.Gln914His) c.2481-1G>C (n.2481-1G>C) c.3173G>C (p.Arg1058Thr) c.3110G>C (p.Arg1037Thr) n.2144G>C c.3179G>C (p.Arg1060Thr) | |
| 1 | g.6467894C>T | CA338113767 | PLEKHG5 | c.2942G>A (p.Arg981Lys) c.3116G>A (p.Arg1039Lys) c.3053G>A (p.Arg1018Lys) n.3418G>A c.3149G>A (p.Arg1050Lys) c.3239G>A (p.Arg1080Lys) c.*3154G>A (n.*3154G>A) c.2250-1G>A (n.2250-1G>A) c.*2770G>A (n.*2770G>A) c.815G>A (p.Arg272Lys) c.2742G>A (p.Gln914=) c.2481-1G>A (n.2481-1G>A) c.3173G>A (p.Arg1058Lys) c.3110G>A (p.Arg1037Lys) n.2144G>A c.3179G>A (p.Arg1060Lys) | dbSNP gnomAD v2 |
| 1 | g.6467894_6467896delinsCTG | CA1151516419 | PLEKHG5 | c.2940_2942delinsCAG (p.His980=) c.3114_3116delinsCAG (p.His1038=) c.3051_3053delinsCAG (p.His1017=) n.3416_3418delinsCAG c.3147_3149delinsCAG (p.His1049=) c.3237_3239delinsCAG (p.His1079=) c.*3152_*3154delinsCAG (n.*3152_*3154delinsCAG) c.2250-3_2250-1delinsCAG (n.2250-3_2250-1delinsCAG) c.*2768_*2770delinsCAG (n.*2768_*2770delinsCAG) c.813_815delinsCAG (p.His271=) c.2740_2742delinsCAG (p.Gln914=) c.2481-3_2481-1delinsCAG (n.2481-3_2481-1delinsCAG) c.3171_3173delinsCAG (p.His1057=) c.3108_3110delinsCAG (p.His1036=) n.2142_2144delinsCAG c.3177_3179delinsCAG (p.His1059=) | |
| 1 | g.6467895T>A | CA338113774 | PLEKHG5 | c.2941A>T (p.Arg981Trp) c.3115A>T (p.Arg1039Trp) c.3052A>T (p.Arg1018Trp) n.3417A>T c.3148A>T (p.Arg1050Trp) c.3238A>T (p.Arg1080Trp) c.*3153A>T (n.*3153A>T) c.2250-2A>T (n.2250-2A>T) c.*2769A>T (n.*2769A>T) c.814A>T (p.Arg272Trp) c.2741A>T (p.Gln914Leu) c.2481-2A>T (n.2481-2A>T) c.3172A>T (p.Arg1058Trp) c.3109A>T (p.Arg1037Trp) n.2143A>T c.3178A>T (p.Arg1060Trp) | |
| 1 | g.6467895T>C | CA338113779 | PLEKHG5 | c.2941A>G (p.Arg981Gly) c.3115A>G (p.Arg1039Gly) c.3052A>G (p.Arg1018Gly) n.3417A>G c.3148A>G (p.Arg1050Gly) c.3238A>G (p.Arg1080Gly) c.*3153A>G (n.*3153A>G) c.2250-2A>G (n.2250-2A>G) c.*2769A>G (n.*2769A>G) c.814A>G (p.Arg272Gly) c.2741A>G (p.Gln914Arg) c.2481-2A>G (n.2481-2A>G) c.3172A>G (p.Arg1058Gly) c.3109A>G (p.Arg1037Gly) n.2143A>G c.3178A>G (p.Arg1060Gly) | |
| 1 | g.6467895T>G | CA338113776 | PLEKHG5 | c.2941A>C (p.Arg981=) c.3115A>C (p.Arg1039=) c.3052A>C (p.Arg1018=) n.3417A>C c.3148A>C (p.Arg1050=) c.3238A>C (p.Arg1080=) c.*3153A>C (n.*3153A>C) c.2250-2A>C (n.2250-2A>C) c.*2769A>C (n.*2769A>C) c.814A>C (p.Arg272=) c.2741A>C (p.Gln914Pro) c.2481-2A>C (n.2481-2A>C) c.3172A>C (p.Arg1058=) c.3109A>C (p.Arg1037=) n.2143A>C c.3178A>C (p.Arg1060=) | |
| 1 | g.6467897_6467898del | CA1151516436 | PLEKHG5 | c.2940_2941del (p.His980GlnfsTer18) c.3114_3115del (p.His1038GlnfsTer18) c.3051_3052del (p.His1017GlnfsTer18) n.3416_3417del c.3147_3148del (p.His1049GlnfsTer18) c.3237_3238del (p.His1079GlnfsTer18) c.*3152_*3153del (n.*3152_*3153del) c.2250-3_2250-2del (n.2250-3_2250-2del) c.*2768_*2769del (n.*2768_*2769del) c.813_814del (p.His271GlnfsTer18) c.2740_2741del (p.Gln914GlyfsTer3) c.2481-3_2481-2del (n.2481-3_2481-2del) c.3171_3172del (p.His1057GlnfsTer18) c.3108_3109del (p.His1036GlnfsTer18) n.2142_2143del c.3177_3178del (p.His1059GlnfsTer18) | |
| 1 | g.6467896G>A | CA338113780 | PLEKHG5 | c.2940C>T (p.His980=) c.3114C>T (p.His1038=) c.3051C>T (p.His1017=) n.3416C>T c.3147C>T (p.His1049=) c.3237C>T (p.His1079=) c.*3152C>T (n.*3152C>T) c.2250-3C>T (n.2250-3C>T) c.*2768C>T (n.*2768C>T) c.813C>T (p.His271=) c.2740C>T (p.Gln914Ter) c.2481-3C>T (n.2481-3C>T) c.3171C>T (p.His1057=) c.3108C>T (p.His1036=) n.2142C>T c.3177C>T (p.His1059=) | |
| 1 | g.6467896G>C | CA338113782 | PLEKHG5 | c.2940C>G (p.His980Gln) c.3114C>G (p.His1038Gln) c.3051C>G (p.His1017Gln) n.3416C>G c.3147C>G (p.His1049Gln) c.3237C>G (p.His1079Gln) c.*3152C>G (n.*3152C>G) c.2250-3C>G (n.2250-3C>G) c.*2768C>G (n.*2768C>G) c.813C>G (p.His271Gln) c.2740C>G (p.Gln914Glu) c.2481-3C>G (n.2481-3C>G) c.3171C>G (p.His1057Gln) c.3108C>G (p.His1036Gln) n.2142C>G c.3177C>G (p.His1059Gln) | |
| 1 | g.6467896G>T | CA338113781 | PLEKHG5 | c.2940C>A (p.His980Gln) c.3114C>A (p.His1038Gln) c.3051C>A (p.His1017Gln) n.3416C>A c.3147C>A (p.His1049Gln) c.3237C>A (p.His1079Gln) c.*3152C>A (n.*3152C>A) c.2250-3C>A (n.2250-3C>A) c.*2768C>A (n.*2768C>A) c.813C>A (p.His271Gln) c.2740C>A (p.Gln914Lys) c.2481-3C>A (n.2481-3C>A) c.3171C>A (p.His1057Gln) c.3108C>A (p.His1036Gln) n.2142C>A c.3177C>A (p.His1059Gln) | |
| 1 | g.6467897T>A | CA338113787 | PLEKHG5 | c.2939A>T (p.His980Leu) c.3113A>T (p.His1038Leu) c.3050A>T (p.His1017Leu) n.3415A>T c.3146A>T (p.His1049Leu) c.3236A>T (p.His1079Leu) c.*3151A>T (n.*3151A>T) c.2250-4A>T (n.2250-4A>T) c.*2767A>T (n.*2767A>T) c.812A>T (p.His271Leu) c.2739A>T (p.Ala913=) c.2481-4A>T (n.2481-4A>T) c.3170A>T (p.His1057Leu) c.3107A>T (p.His1036Leu) n.2141A>T c.3176A>T (p.His1059Leu) | |
| 1 | g.6467897T>C | CA338113790 | PLEKHG5 | c.2939A>G (p.His980Arg) c.3113A>G (p.His1038Arg) c.3050A>G (p.His1017Arg) n.3415A>G c.3146A>G (p.His1049Arg) c.3236A>G (p.His1079Arg) c.*3151A>G (n.*3151A>G) c.2250-4A>G (n.2250-4A>G) c.*2767A>G (n.*2767A>G) c.812A>G (p.His271Arg) c.2739A>G (p.Ala913=) c.2481-4A>G (n.2481-4A>G) c.3170A>G (p.His1057Arg) c.3107A>G (p.His1036Arg) n.2141A>G c.3176A>G (p.His1059Arg) | gnomAD v4 |
| 1 | g.6467897T>G | CA338113793 | PLEKHG5 | c.2939A>C (p.His980Pro) c.3113A>C (p.His1038Pro) c.3050A>C (p.His1017Pro) n.3415A>C c.3146A>C (p.His1049Pro) c.3236A>C (p.His1079Pro) c.*3151A>C (n.*3151A>C) c.2250-4A>C (n.2250-4A>C) c.*2767A>C (n.*2767A>C) c.812A>C (p.His271Pro) c.2739A>C (p.Ala913=) c.2481-4A>C (n.2481-4A>C) c.3170A>C (p.His1057Pro) c.3107A>C (p.His1036Pro) n.2141A>C c.3176A>C (p.His1059Pro) |