WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.6468316C>A | CA416022916 | PLEKHG5 | c.2520G>T (p.Val840=) c.2694G>T (p.Val898=) c.2631G>T (p.Val877=) n.2996G>T c.2727G>T (p.Val909=) c.2817G>T (p.Val939=) c.*2732G>T (n.*2732G>T) c.2250-423G>T (n.2250-423G>T) c.*2348G>T (n.*2348G>T) c.393G>T (p.Val131=) c.2481-423G>T (n.2481-423G>T) c.2751G>T (p.Val917=) c.2688G>T (p.Val896=) n.1722G>T c.2757G>T (p.Val919=) | |
| 1 | g.6468316C>G | CA416022917 | PLEKHG5 | c.2520G>C (p.Val840=) c.2694G>C (p.Val898=) c.2631G>C (p.Val877=) n.2996G>C c.2727G>C (p.Val909=) c.2817G>C (p.Val939=) c.*2732G>C (n.*2732G>C) c.2250-423G>C (n.2250-423G>C) c.*2348G>C (n.*2348G>C) c.393G>C (p.Val131=) c.2481-423G>C (n.2481-423G>C) c.2751G>C (p.Val917=) c.2688G>C (p.Val896=) n.1722G>C c.2757G>C (p.Val919=) | |
| 1 | g.6468316C>T | CA416022918 | PLEKHG5 | c.2520G>A (p.Val840=) c.2694G>A (p.Val898=) c.2631G>A (p.Val877=) n.2996G>A c.2727G>A (p.Val909=) c.2817G>A (p.Val939=) c.*2732G>A (n.*2732G>A) c.2250-423G>A (n.2250-423G>A) c.*2348G>A (n.*2348G>A) c.393G>A (p.Val131=) c.2481-423G>A (n.2481-423G>A) c.2751G>A (p.Val917=) c.2688G>A (p.Val896=) n.1722G>A c.2757G>A (p.Val919=) | ClinVar dbSNP |
| 1 | g.6468317A= | CA1151517957 | PLEKHG5 | c.2519T= (p.Val840=) c.2693T= (p.Val898=) c.2630T= (p.Val877=) n.2995T= c.2726T= (p.Val909=) c.2816T= (p.Val939=) c.*2731T= (n.*2731T=) c.2250-424T= (n.2250-424T=) c.*2347T= (n.*2347T=) c.392T= (p.Val131=) c.2481-424T= (n.2481-424T=) c.2750T= (p.Val917=) c.2687T= (p.Val896=) n.1721T= c.2756T= (p.Val919=) | |
| 1 | g.6468317A>C | CA338116259 | PLEKHG5 | c.2519T>G (p.Val840Gly) c.2693T>G (p.Val898Gly) c.2630T>G (p.Val877Gly) n.2995T>G c.2726T>G (p.Val909Gly) c.2816T>G (p.Val939Gly) c.*2731T>G (n.*2731T>G) c.2250-424T>G (n.2250-424T>G) c.*2347T>G (n.*2347T>G) c.392T>G (p.Val131Gly) c.2481-424T>G (n.2481-424T>G) c.2750T>G (p.Val917Gly) c.2687T>G (p.Val896Gly) n.1721T>G c.2756T>G (p.Val919Gly) | |
| 1 | g.6468317A>G | CA338116262 | PLEKHG5 | c.2519T>C (p.Val840Ala) c.2693T>C (p.Val898Ala) c.2630T>C (p.Val877Ala) n.2995T>C c.2726T>C (p.Val909Ala) c.2816T>C (p.Val939Ala) c.*2731T>C (n.*2731T>C) c.2250-424T>C (n.2250-424T>C) c.*2347T>C (n.*2347T>C) c.392T>C (p.Val131Ala) c.2481-424T>C (n.2481-424T>C) c.2750T>C (p.Val917Ala) c.2687T>C (p.Val896Ala) n.1721T>C c.2756T>C (p.Val919Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6468317A>T | CA338116255 | PLEKHG5 | c.2519T>A (p.Val840Glu) c.2693T>A (p.Val898Glu) c.2630T>A (p.Val877Glu) n.2995T>A c.2726T>A (p.Val909Glu) c.2816T>A (p.Val939Glu) c.*2731T>A (n.*2731T>A) c.2250-424T>A (n.2250-424T>A) c.*2347T>A (n.*2347T>A) c.392T>A (p.Val131Glu) c.2481-424T>A (n.2481-424T>A) c.2750T>A (p.Val917Glu) c.2687T>A (p.Val896Glu) n.1721T>A c.2756T>A (p.Val919Glu) | |
| 1 | g.6468318C>A | CA338116265 | PLEKHG5 | c.2518G>T (p.Val840Leu) c.2692G>T (p.Val898Leu) c.2629G>T (p.Val877Leu) n.2994G>T c.2725G>T (p.Val909Leu) c.2815G>T (p.Val939Leu) c.*2730G>T (n.*2730G>T) c.2250-425G>T (n.2250-425G>T) c.*2346G>T (n.*2346G>T) c.391G>T (p.Val131Leu) c.2481-425G>T (n.2481-425G>T) c.2749G>T (p.Val917Leu) c.2686G>T (p.Val896Leu) n.1720G>T c.2755G>T (p.Val919Leu) | |
| 1 | g.6468318C>G | CA338116266 | PLEKHG5 | c.2518G>C (p.Val840Leu) c.2692G>C (p.Val898Leu) c.2629G>C (p.Val877Leu) n.2994G>C c.2725G>C (p.Val909Leu) c.2815G>C (p.Val939Leu) c.*2730G>C (n.*2730G>C) c.2250-425G>C (n.2250-425G>C) c.*2346G>C (n.*2346G>C) c.391G>C (p.Val131Leu) c.2481-425G>C (n.2481-425G>C) c.2749G>C (p.Val917Leu) c.2686G>C (p.Val896Leu) n.1720G>C c.2755G>C (p.Val919Leu) | |
| 1 | g.6468318C>T | CA338116267 | PLEKHG5 | c.2518G>A (p.Val840Met) c.2692G>A (p.Val898Met) c.2629G>A (p.Val877Met) n.2994G>A c.2725G>A (p.Val909Met) c.2815G>A (p.Val939Met) c.*2730G>A (n.*2730G>A) c.2250-425G>A (n.2250-425G>A) c.*2346G>A (n.*2346G>A) c.391G>A (p.Val131Met) c.2481-425G>A (n.2481-425G>A) c.2749G>A (p.Val917Met) c.2686G>A (p.Val896Met) n.1720G>A c.2755G>A (p.Val919Met) | |
| 1 | g.6468319T>A | CA416022923 | PLEKHG5 | c.2517A>T (p.Leu839=) c.2691A>T (p.Leu897=) c.2628A>T (p.Leu876=) n.2993A>T c.2724A>T (p.Leu908=) c.2814A>T (p.Leu938=) c.*2729A>T (n.*2729A>T) c.2250-426A>T (n.2250-426A>T) c.*2345A>T (n.*2345A>T) c.390A>T (p.Leu130=) c.2481-426A>T (n.2481-426A>T) c.2748A>T (p.Leu916=) c.2685A>T (p.Leu895=) n.1719A>T c.2754A>T (p.Leu918=) | dbSNP gnomAD v4 |
| 1 | g.6468319T>C | CA416022921 | PLEKHG5 | c.2517A>G (p.Leu839=) c.2691A>G (p.Leu897=) c.2628A>G (p.Leu876=) n.2993A>G c.2724A>G (p.Leu908=) c.2814A>G (p.Leu938=) c.*2729A>G (n.*2729A>G) c.2250-426A>G (n.2250-426A>G) c.*2345A>G (n.*2345A>G) c.390A>G (p.Leu130=) c.2481-426A>G (n.2481-426A>G) c.2748A>G (p.Leu916=) c.2685A>G (p.Leu895=) n.1719A>G c.2754A>G (p.Leu918=) | COSMIC COSMIC COSMIC |
| 1 | g.6468319T>G | CA416022922 | PLEKHG5 | c.2517A>C (p.Leu839=) c.2691A>C (p.Leu897=) c.2628A>C (p.Leu876=) n.2993A>C c.2724A>C (p.Leu908=) c.2814A>C (p.Leu938=) c.*2729A>C (n.*2729A>C) c.2250-426A>C (n.2250-426A>C) c.*2345A>C (n.*2345A>C) c.390A>C (p.Leu130=) c.2481-426A>C (n.2481-426A>C) c.2748A>C (p.Leu916=) c.2685A>C (p.Leu895=) n.1719A>C c.2754A>C (p.Leu918=) | |
| 1 | g.6468319T= | CA1151517960 | PLEKHG5 | c.2517A= (p.Leu839=) c.2691A= (p.Leu897=) c.2628A= (p.Leu876=) n.2993A= c.2724A= (p.Leu908=) c.2814A= (p.Leu938=) c.*2729A= (n.*2729A=) c.2250-426A= (n.2250-426A=) c.*2345A= (n.*2345A=) c.390A= (p.Leu130=) c.2481-426A= (n.2481-426A=) c.2748A= (p.Leu916=) c.2685A= (p.Leu895=) n.1719A= c.2754A= (p.Leu918=) | |
| 1 | g.6468320A= | CA1151517965 | PLEKHG5 | c.2516T= (p.Leu839=) c.2690T= (p.Leu897=) c.2627T= (p.Leu876=) n.2992T= c.2723T= (p.Leu908=) c.2813T= (p.Leu938=) c.*2728T= (n.*2728T=) c.2250-427T= (n.2250-427T=) c.*2344T= (n.*2344T=) c.389T= (p.Leu130=) c.2481-427T= (n.2481-427T=) c.2747T= (p.Leu916=) c.2684T= (p.Leu895=) n.1718T= c.2753T= (p.Leu918=) | |
| 1 | g.6468320A>C | CA338116269 | PLEKHG5 | c.2516T>G (p.Leu839Arg) c.2690T>G (p.Leu897Arg) c.2627T>G (p.Leu876Arg) n.2992T>G c.2723T>G (p.Leu908Arg) c.2813T>G (p.Leu938Arg) c.*2728T>G (n.*2728T>G) c.2250-427T>G (n.2250-427T>G) c.*2344T>G (n.*2344T>G) c.389T>G (p.Leu130Arg) c.2481-427T>G (n.2481-427T>G) c.2747T>G (p.Leu916Arg) c.2684T>G (p.Leu895Arg) n.1718T>G c.2753T>G (p.Leu918Arg) | |
| 1 | g.6468320A>G | CA338116270 | PLEKHG5 | c.2516T>C (p.Leu839Pro) c.2690T>C (p.Leu897Pro) c.2627T>C (p.Leu876Pro) n.2992T>C c.2723T>C (p.Leu908Pro) c.2813T>C (p.Leu938Pro) c.*2728T>C (n.*2728T>C) c.2250-427T>C (n.2250-427T>C) c.*2344T>C (n.*2344T>C) c.389T>C (p.Leu130Pro) c.2481-427T>C (n.2481-427T>C) c.2747T>C (p.Leu916Pro) c.2684T>C (p.Leu895Pro) n.1718T>C c.2753T>C (p.Leu918Pro) | dbSNP gnomAD v4 |
| 1 | g.6468320A>T | CA338116272 | PLEKHG5 | c.2516T>A (p.Leu839Gln) c.2690T>A (p.Leu897Gln) c.2627T>A (p.Leu876Gln) n.2992T>A c.2723T>A (p.Leu908Gln) c.2813T>A (p.Leu938Gln) c.*2728T>A (n.*2728T>A) c.2250-427T>A (n.2250-427T>A) c.*2344T>A (n.*2344T>A) c.389T>A (p.Leu130Gln) c.2481-427T>A (n.2481-427T>A) c.2747T>A (p.Leu916Gln) c.2684T>A (p.Leu895Gln) n.1718T>A c.2753T>A (p.Leu918Gln) | |
| 1 | g.6468321G>A | CA416022927 | PLEKHG5 | c.2515C>T (p.Leu839=) c.2689C>T (p.Leu897=) c.2626C>T (p.Leu876=) n.2991C>T c.2722C>T (p.Leu908=) c.2812C>T (p.Leu938=) c.*2727C>T (n.*2727C>T) c.2250-428C>T (n.2250-428C>T) c.*2343C>T (n.*2343C>T) c.388C>T (p.Leu130=) c.2481-428C>T (n.2481-428C>T) c.2746C>T (p.Leu916=) c.2683C>T (p.Leu895=) n.1717C>T c.2752C>T (p.Leu918=) | |
| 1 | g.6468321G>C | CA338116274 | PLEKHG5 | c.2515C>G (p.Leu839Val) c.2689C>G (p.Leu897Val) c.2626C>G (p.Leu876Val) n.2991C>G c.2722C>G (p.Leu908Val) c.2812C>G (p.Leu938Val) c.*2727C>G (n.*2727C>G) c.2250-428C>G (n.2250-428C>G) c.*2343C>G (n.*2343C>G) c.388C>G (p.Leu130Val) c.2481-428C>G (n.2481-428C>G) c.2746C>G (p.Leu916Val) c.2683C>G (p.Leu895Val) n.1717C>G c.2752C>G (p.Leu918Val) | |
| 1 | g.6468321G>T | CA338116278 | PLEKHG5 | c.2515C>A (p.Leu839Ile) c.2689C>A (p.Leu897Ile) c.2626C>A (p.Leu876Ile) n.2991C>A c.2722C>A (p.Leu908Ile) c.2812C>A (p.Leu938Ile) c.*2727C>A (n.*2727C>A) c.2250-428C>A (n.2250-428C>A) c.*2343C>A (n.*2343C>A) c.388C>A (p.Leu130Ile) c.2481-428C>A (n.2481-428C>A) c.2746C>A (p.Leu916Ile) c.2683C>A (p.Leu895Ile) n.1717C>A c.2752C>A (p.Leu918Ile) | |
| 1 | g.6468322C>A | CA338116282 | PLEKHG5 | c.2514G>T (p.Glu838Asp) c.2688G>T (p.Glu896Asp) c.2625G>T (p.Glu875Asp) n.2990G>T c.2721G>T (p.Glu907Asp) c.2811G>T (p.Glu937Asp) c.*2726G>T (n.*2726G>T) c.2250-429G>T (n.2250-429G>T) c.*2342G>T (n.*2342G>T) c.387G>T (p.Glu129Asp) c.2481-429G>T (n.2481-429G>T) c.2745G>T (p.Glu915Asp) c.2682G>T (p.Glu894Asp) n.1716G>T c.2751G>T (p.Glu917Asp) | |
| 1 | g.6468322C>G | CA338116289 | PLEKHG5 | c.2514G>C (p.Glu838Asp) c.2688G>C (p.Glu896Asp) c.2625G>C (p.Glu875Asp) n.2990G>C c.2721G>C (p.Glu907Asp) c.2811G>C (p.Glu937Asp) c.*2726G>C (n.*2726G>C) c.2250-429G>C (n.2250-429G>C) c.*2342G>C (n.*2342G>C) c.387G>C (p.Glu129Asp) c.2481-429G>C (n.2481-429G>C) c.2745G>C (p.Glu915Asp) c.2682G>C (p.Glu894Asp) n.1716G>C c.2751G>C (p.Glu917Asp) | |
| 1 | g.6468322C>T | CA416022928 | PLEKHG5 | c.2514G>A (p.Glu838=) c.2688G>A (p.Glu896=) c.2625G>A (p.Glu875=) n.2990G>A c.2721G>A (p.Glu907=) c.2811G>A (p.Glu937=) c.*2726G>A (n.*2726G>A) c.2250-429G>A (n.2250-429G>A) c.*2342G>A (n.*2342G>A) c.387G>A (p.Glu129=) c.2481-429G>A (n.2481-429G>A) c.2745G>A (p.Glu915=) c.2682G>A (p.Glu894=) n.1716G>A c.2751G>A (p.Glu917=) | gnomAD v4 |
| 1 | g.6468323T>A | CA338116292 | PLEKHG5 | c.2513A>T (p.Glu838Val) c.2687A>T (p.Glu896Val) c.2624A>T (p.Glu875Val) n.2989A>T c.2720A>T (p.Glu907Val) c.2810A>T (p.Glu937Val) c.*2725A>T (n.*2725A>T) c.2250-430A>T (n.2250-430A>T) c.*2341A>T (n.*2341A>T) c.386A>T (p.Glu129Val) c.2481-430A>T (n.2481-430A>T) c.2744A>T (p.Glu915Val) c.2681A>T (p.Glu894Val) n.1715A>T c.2750A>T (p.Glu917Val) | |
| 1 | g.6468323T>C | CA338116295 | PLEKHG5 | c.2513A>G (p.Glu838Gly) c.2687A>G (p.Glu896Gly) c.2624A>G (p.Glu875Gly) n.2989A>G c.2720A>G (p.Glu907Gly) c.2810A>G (p.Glu937Gly) c.*2725A>G (n.*2725A>G) c.2250-430A>G (n.2250-430A>G) c.*2341A>G (n.*2341A>G) c.386A>G (p.Glu129Gly) c.2481-430A>G (n.2481-430A>G) c.2744A>G (p.Glu915Gly) c.2681A>G (p.Glu894Gly) n.1715A>G c.2750A>G (p.Glu917Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6468323T>G | CA338116297 | PLEKHG5 | c.2513A>C (p.Glu838Ala) c.2687A>C (p.Glu896Ala) c.2624A>C (p.Glu875Ala) n.2989A>C c.2720A>C (p.Glu907Ala) c.2810A>C (p.Glu937Ala) c.*2725A>C (n.*2725A>C) c.2250-430A>C (n.2250-430A>C) c.*2341A>C (n.*2341A>C) c.386A>C (p.Glu129Ala) c.2481-430A>C (n.2481-430A>C) c.2744A>C (p.Glu915Ala) c.2681A>C (p.Glu894Ala) n.1715A>C c.2750A>C (p.Glu917Ala) | |
| 1 | g.6468323T= | CA1151517969 | PLEKHG5 | c.2513A= (p.Glu838=) c.2687A= (p.Glu896=) c.2624A= (p.Glu875=) n.2989A= c.2720A= (p.Glu907=) c.2810A= (p.Glu937=) c.*2725A= (n.*2725A=) c.2250-430A= (n.2250-430A=) c.*2341A= (n.*2341A=) c.386A= (p.Glu129=) c.2481-430A= (n.2481-430A=) c.2744A= (p.Glu915=) c.2681A= (p.Glu894=) n.1715A= c.2750A= (p.Glu917=) | |
| 1 | g.6468324C>A | CA338116301 | PLEKHG5 | c.2512G>T (p.Glu838Ter) c.2686G>T (p.Glu896Ter) c.2623G>T (p.Glu875Ter) n.2988G>T c.2719G>T (p.Glu907Ter) c.2809G>T (p.Glu937Ter) c.*2724G>T (n.*2724G>T) c.2250-431G>T (n.2250-431G>T) c.*2340G>T (n.*2340G>T) c.385G>T (p.Glu129Ter) c.2481-431G>T (n.2481-431G>T) c.2743G>T (p.Glu915Ter) c.2680G>T (p.Glu894Ter) n.1714G>T c.2749G>T (p.Glu917Ter) | |
| 1 | g.6468324C>G | CA338116310 | PLEKHG5 | c.2512G>C (p.Glu838Gln) c.2686G>C (p.Glu896Gln) c.2623G>C (p.Glu875Gln) n.2988G>C c.2719G>C (p.Glu907Gln) c.2809G>C (p.Glu937Gln) c.*2724G>C (n.*2724G>C) c.2250-431G>C (n.2250-431G>C) c.*2340G>C (n.*2340G>C) c.385G>C (p.Glu129Gln) c.2481-431G>C (n.2481-431G>C) c.2743G>C (p.Glu915Gln) c.2680G>C (p.Glu894Gln) n.1714G>C c.2749G>C (p.Glu917Gln) | |
| 1 | g.6468324C>T | CA338116309 | PLEKHG5 | c.2512G>A (p.Glu838Lys) c.2686G>A (p.Glu896Lys) c.2623G>A (p.Glu875Lys) n.2988G>A c.2719G>A (p.Glu907Lys) c.2809G>A (p.Glu937Lys) c.*2724G>A (n.*2724G>A) c.2250-431G>A (n.2250-431G>A) c.*2340G>A (n.*2340G>A) c.385G>A (p.Glu129Lys) c.2481-431G>A (n.2481-431G>A) c.2743G>A (p.Glu915Lys) c.2680G>A (p.Glu894Lys) n.1714G>A c.2749G>A (p.Glu917Lys) | |
| 1 | g.6468325T>A | CA416022931 | PLEKHG5 | c.2511A>T (p.Ala837=) c.2685A>T (p.Ala895=) c.2622A>T (p.Ala874=) n.2987A>T c.2718A>T (p.Ala906=) c.2808A>T (p.Ala936=) c.*2723A>T (n.*2723A>T) c.2250-432A>T (n.2250-432A>T) c.*2339A>T (n.*2339A>T) c.384A>T (p.Ala128=) c.2481-432A>T (n.2481-432A>T) c.2742A>T (p.Ala914=) c.2679A>T (p.Ala893=) n.1713A>T c.2748A>T (p.Ala916=) | |
| 1 | g.6468325T>C | CA416022932 | PLEKHG5 | c.2511A>G (p.Ala837=) c.2685A>G (p.Ala895=) c.2622A>G (p.Ala874=) n.2987A>G c.2718A>G (p.Ala906=) c.2808A>G (p.Ala936=) c.*2723A>G (n.*2723A>G) c.2250-432A>G (n.2250-432A>G) c.*2339A>G (n.*2339A>G) c.384A>G (p.Ala128=) c.2481-432A>G (n.2481-432A>G) c.2742A>G (p.Ala914=) c.2679A>G (p.Ala893=) n.1713A>G c.2748A>G (p.Ala916=) | |
| 1 | g.6468325T>G | CA416022933 | PLEKHG5 | c.2511A>C (p.Ala837=) c.2685A>C (p.Ala895=) c.2622A>C (p.Ala874=) n.2987A>C c.2718A>C (p.Ala906=) c.2808A>C (p.Ala936=) c.*2723A>C (n.*2723A>C) c.2250-432A>C (n.2250-432A>C) c.*2339A>C (n.*2339A>C) c.384A>C (p.Ala128=) c.2481-432A>C (n.2481-432A>C) c.2742A>C (p.Ala914=) c.2679A>C (p.Ala893=) n.1713A>C c.2748A>C (p.Ala916=) | |
| 1 | g.6468326G>A | CA338116314 | PLEKHG5 | c.2510C>T (p.Ala837Val) c.2684C>T (p.Ala895Val) c.2621C>T (p.Ala874Val) n.2986C>T c.2717C>T (p.Ala906Val) c.2807C>T (p.Ala936Val) c.*2722C>T (n.*2722C>T) c.2250-433C>T (n.2250-433C>T) c.*2338C>T (n.*2338C>T) c.383C>T (p.Ala128Val) c.2481-433C>T (n.2481-433C>T) c.2741C>T (p.Ala914Val) c.2678C>T (p.Ala893Val) n.1712C>T c.2747C>T (p.Ala916Val) | gnomAD v4 |
| 1 | g.6468326G>C | CA338116318 | PLEKHG5 | c.2510C>G (p.Ala837Gly) c.2684C>G (p.Ala895Gly) c.2621C>G (p.Ala874Gly) n.2986C>G c.2717C>G (p.Ala906Gly) c.2807C>G (p.Ala936Gly) c.*2722C>G (n.*2722C>G) c.2250-433C>G (n.2250-433C>G) c.*2338C>G (n.*2338C>G) c.383C>G (p.Ala128Gly) c.2481-433C>G (n.2481-433C>G) c.2741C>G (p.Ala914Gly) c.2678C>G (p.Ala893Gly) n.1712C>G c.2747C>G (p.Ala916Gly) | |
| 1 | g.6468326G>T | CA338116316 | PLEKHG5 | c.2510C>A (p.Ala837Glu) c.2684C>A (p.Ala895Glu) c.2621C>A (p.Ala874Glu) n.2986C>A c.2717C>A (p.Ala906Glu) c.2807C>A (p.Ala936Glu) c.*2722C>A (n.*2722C>A) c.2250-433C>A (n.2250-433C>A) c.*2338C>A (n.*2338C>A) c.383C>A (p.Ala128Glu) c.2481-433C>A (n.2481-433C>A) c.2741C>A (p.Ala914Glu) c.2678C>A (p.Ala893Glu) n.1712C>A c.2747C>A (p.Ala916Glu) | |
| 1 | g.6468329_6468336del | CA2580062541 | PLEKHG5 | c.2503_2510del (p.Pro835ArgfsTer?) c.2677_2684del (p.Pro893ArgfsTer?) c.2614_2621del (p.Pro872ArgfsTer?) n.2979_2986del c.2710_2717del (p.Pro904ArgfsTer?) c.2800_2807del (p.Pro934ArgfsTer?) c.*2715_*2722del (n.*2715_*2722del) c.2250-440_2250-433del (n.2250-440_2250-433del) c.*2331_*2338del (n.*2331_*2338del) c.376_383del (p.Pro126ArgfsTer?) c.2481-440_2481-433del (n.2481-440_2481-433del) c.2734_2741del (p.Pro912ArgfsTer?) c.2671_2678del (p.Pro891ArgfsTer?) n.1705_1712del c.2740_2747del (p.Pro914ArgfsTer?) | ClinVar |
| 1 | g.6468327C>A | CA338116320 | PLEKHG5 | c.2509G>T (p.Ala837Ser) c.2683G>T (p.Ala895Ser) c.2620G>T (p.Ala874Ser) n.2985G>T c.2716G>T (p.Ala906Ser) c.2806G>T (p.Ala936Ser) c.*2721G>T (n.*2721G>T) c.2250-434G>T (n.2250-434G>T) c.*2337G>T (n.*2337G>T) c.382G>T (p.Ala128Ser) c.2481-434G>T (n.2481-434G>T) c.2740G>T (p.Ala914Ser) c.2677G>T (p.Ala893Ser) n.1711G>T c.2746G>T (p.Ala916Ser) | |
| 1 | g.6468327C>G | CA338116321 | PLEKHG5 | c.2509G>C (p.Ala837Pro) c.2683G>C (p.Ala895Pro) c.2620G>C (p.Ala874Pro) n.2985G>C c.2716G>C (p.Ala906Pro) c.2806G>C (p.Ala936Pro) c.*2721G>C (n.*2721G>C) c.2250-434G>C (n.2250-434G>C) c.*2337G>C (n.*2337G>C) c.382G>C (p.Ala128Pro) c.2481-434G>C (n.2481-434G>C) c.2740G>C (p.Ala914Pro) c.2677G>C (p.Ala893Pro) n.1711G>C c.2746G>C (p.Ala916Pro) | |
| 1 | g.6468327C>T | CA338116322 | PLEKHG5 | c.2509G>A (p.Ala837Thr) c.2683G>A (p.Ala895Thr) c.2620G>A (p.Ala874Thr) n.2985G>A c.2716G>A (p.Ala906Thr) c.2806G>A (p.Ala936Thr) c.*2721G>A (n.*2721G>A) c.2250-434G>A (n.2250-434G>A) c.*2337G>A (n.*2337G>A) c.382G>A (p.Ala128Thr) c.2481-434G>A (n.2481-434G>A) c.2740G>A (p.Ala914Thr) c.2677G>A (p.Ala893Thr) n.1711G>A c.2746G>A (p.Ala916Thr) | gnomAD v4 |
| 1 | g.6468328C>A | CA338116325 | PLEKHG5 | c.2508G>T (p.Met836Ile) c.2682G>T (p.Met894Ile) c.2619G>T (p.Met873Ile) n.2984G>T c.2715G>T (p.Met905Ile) c.2805G>T (p.Met935Ile) c.*2720G>T (n.*2720G>T) c.2250-435G>T (n.2250-435G>T) c.*2336G>T (n.*2336G>T) c.381G>T (p.Met127Ile) c.2481-435G>T (n.2481-435G>T) c.2739G>T (p.Met913Ile) c.2676G>T (p.Met892Ile) n.1710G>T c.2745G>T (p.Met915Ile) | gnomAD v4 |
| 1 | g.6468328C= | CA1151517978 | PLEKHG5 | c.2508G= (p.Met836=) c.2682G= (p.Met894=) c.2619G= (p.Met873=) n.2984G= c.2715G= (p.Met905=) c.2805G= (p.Met935=) c.*2720G= (n.*2720G=) c.2250-435G= (n.2250-435G=) c.*2336G= (n.*2336G=) c.381G= (p.Met127=) c.2481-435G= (n.2481-435G=) c.2739G= (p.Met913=) c.2676G= (p.Met892=) n.1710G= c.2745G= (p.Met915=) | |
| 1 | g.6468328C>G | CA338116331 | PLEKHG5 | c.2508G>C (p.Met836Ile) c.2682G>C (p.Met894Ile) c.2619G>C (p.Met873Ile) n.2984G>C c.2715G>C (p.Met905Ile) c.2805G>C (p.Met935Ile) c.*2720G>C (n.*2720G>C) c.2250-435G>C (n.2250-435G>C) c.*2336G>C (n.*2336G>C) c.381G>C (p.Met127Ile) c.2481-435G>C (n.2481-435G>C) c.2739G>C (p.Met913Ile) c.2676G>C (p.Met892Ile) n.1710G>C c.2745G>C (p.Met915Ile) | dbSNP |
| 1 | g.6468328C>T | CA338116334 | PLEKHG5 | c.2508G>A (p.Met836Ile) c.2682G>A (p.Met894Ile) c.2619G>A (p.Met873Ile) n.2984G>A c.2715G>A (p.Met905Ile) c.2805G>A (p.Met935Ile) c.*2720G>A (n.*2720G>A) c.2250-435G>A (n.2250-435G>A) c.*2336G>A (n.*2336G>A) c.381G>A (p.Met127Ile) c.2481-435G>A (n.2481-435G>A) c.2739G>A (p.Met913Ile) c.2676G>A (p.Met892Ile) n.1710G>A c.2745G>A (p.Met915Ile) | dbSNP gnomAD v2 |
| 1 | g.6468329A= | CA1151517992 | PLEKHG5 | c.2507T= (p.Met836=) c.2681T= (p.Met894=) c.2618T= (p.Met873=) n.2983T= c.2714T= (p.Met905=) c.2804T= (p.Met935=) c.*2719T= (n.*2719T=) c.2250-436T= (n.2250-436T=) c.*2335T= (n.*2335T=) c.380T= (p.Met127=) c.2481-436T= (n.2481-436T=) c.2738T= (p.Met913=) c.2675T= (p.Met892=) n.1709T= c.2744T= (p.Met915=) | |
| 1 | g.6468329A>C | CA338116339 | PLEKHG5 | c.2507T>G (p.Met836Arg) c.2681T>G (p.Met894Arg) c.2618T>G (p.Met873Arg) n.2983T>G c.2714T>G (p.Met905Arg) c.2804T>G (p.Met935Arg) c.*2719T>G (n.*2719T>G) c.2250-436T>G (n.2250-436T>G) c.*2335T>G (n.*2335T>G) c.380T>G (p.Met127Arg) c.2481-436T>G (n.2481-436T>G) c.2738T>G (p.Met913Arg) c.2675T>G (p.Met892Arg) n.1709T>G c.2744T>G (p.Met915Arg) | dbSNP |
| 1 | g.6468329A>G | CA338116341 | PLEKHG5 | c.2507T>C (p.Met836Thr) c.2681T>C (p.Met894Thr) c.2618T>C (p.Met873Thr) n.2983T>C c.2714T>C (p.Met905Thr) c.2804T>C (p.Met935Thr) c.*2719T>C (n.*2719T>C) c.2250-436T>C (n.2250-436T>C) c.*2335T>C (n.*2335T>C) c.380T>C (p.Met127Thr) c.2481-436T>C (n.2481-436T>C) c.2738T>C (p.Met913Thr) c.2675T>C (p.Met892Thr) n.1709T>C c.2744T>C (p.Met915Thr) | gnomAD v4 |
| 1 | g.6468329A>T | CA338116342 | PLEKHG5 | c.2507T>A (p.Met836Lys) c.2681T>A (p.Met894Lys) c.2618T>A (p.Met873Lys) n.2983T>A c.2714T>A (p.Met905Lys) c.2804T>A (p.Met935Lys) c.*2719T>A (n.*2719T>A) c.2250-436T>A (n.2250-436T>A) c.*2335T>A (n.*2335T>A) c.380T>A (p.Met127Lys) c.2481-436T>A (n.2481-436T>A) c.2738T>A (p.Met913Lys) c.2675T>A (p.Met892Lys) n.1709T>A c.2744T>A (p.Met915Lys) | |
| 1 | g.6468330T>A | CA338116353 | PLEKHG5 | c.2506A>T (p.Met836Leu) c.2680A>T (p.Met894Leu) c.2617A>T (p.Met873Leu) n.2982A>T c.2713A>T (p.Met905Leu) c.2803A>T (p.Met935Leu) c.*2718A>T (n.*2718A>T) c.2250-437A>T (n.2250-437A>T) c.*2334A>T (n.*2334A>T) c.379A>T (p.Met127Leu) c.2481-437A>T (n.2481-437A>T) c.2737A>T (p.Met913Leu) c.2674A>T (p.Met892Leu) n.1708A>T c.2743A>T (p.Met915Leu) |