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.6468160A= | CA1151517454 | PLEKHG5 | c.2676T= (p.His892=) c.2850T= (p.His950=) c.2787T= (p.His929=) n.3152T= c.2883T= (p.His961=) c.2973T= (p.His991=) c.*2888T= (n.*2888T=) c.2250-267T= (n.2250-267T=) c.*2504T= (n.*2504T=) c.549T= (p.His183=) c.2481-267T= (n.2481-267T=) c.2907T= (p.His969=) c.2844T= (p.His948=) n.1878T= c.2913T= (p.His971=) | |
| 1 | g.6468160A>C | CA338115363 | PLEKHG5 | c.2676T>G (p.His892Gln) c.2850T>G (p.His950Gln) c.2787T>G (p.His929Gln) n.3152T>G c.2883T>G (p.His961Gln) c.2973T>G (p.His991Gln) c.*2888T>G (n.*2888T>G) c.2250-267T>G (n.2250-267T>G) c.*2504T>G (n.*2504T>G) c.549T>G (p.His183Gln) c.2481-267T>G (n.2481-267T>G) c.2907T>G (p.His969Gln) c.2844T>G (p.His948Gln) n.1878T>G c.2913T>G (p.His971Gln) | |
| 1 | g.6468160A>G | CA561112 | PLEKHG5 | c.2676T>C (p.His892=) c.2850T>C (p.His950=) c.2787T>C (p.His929=) n.3152T>C c.2883T>C (p.His961=) c.2973T>C (p.His991=) c.*2888T>C (n.*2888T>C) c.2250-267T>C (n.2250-267T>C) c.*2504T>C (n.*2504T>C) c.549T>C (p.His183=) c.2481-267T>C (n.2481-267T>C) c.2907T>C (p.His969=) c.2844T>C (p.His948=) n.1878T>C c.2913T>C (p.His971=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.6468160A>T | CA338115366 | PLEKHG5 | c.2676T>A (p.His892Gln) c.2850T>A (p.His950Gln) c.2787T>A (p.His929Gln) n.3152T>A c.2883T>A (p.His961Gln) c.2973T>A (p.His991Gln) c.*2888T>A (n.*2888T>A) c.2250-267T>A (n.2250-267T>A) c.*2504T>A (n.*2504T>A) c.549T>A (p.His183Gln) c.2481-267T>A (n.2481-267T>A) c.2907T>A (p.His969Gln) c.2844T>A (p.His948Gln) n.1878T>A c.2913T>A (p.His971Gln) | |
| 1 | g.6468161T>A | CA338115369 | PLEKHG5 | c.2675A>T (p.His892Leu) c.2849A>T (p.His950Leu) c.2786A>T (p.His929Leu) n.3151A>T c.2882A>T (p.His961Leu) c.2972A>T (p.His991Leu) c.*2887A>T (n.*2887A>T) c.2250-268A>T (n.2250-268A>T) c.*2503A>T (n.*2503A>T) c.548A>T (p.His183Leu) c.2481-268A>T (n.2481-268A>T) c.2906A>T (p.His969Leu) c.2843A>T (p.His948Leu) n.1877A>T c.2912A>T (p.His971Leu) | |
| 1 | g.6468161T>C | CA338115371 | PLEKHG5 | c.2675A>G (p.His892Arg) c.2849A>G (p.His950Arg) c.2786A>G (p.His929Arg) n.3151A>G c.2882A>G (p.His961Arg) c.2972A>G (p.His991Arg) c.*2887A>G (n.*2887A>G) c.2250-268A>G (n.2250-268A>G) c.*2503A>G (n.*2503A>G) c.548A>G (p.His183Arg) c.2481-268A>G (n.2481-268A>G) c.2906A>G (p.His969Arg) c.2843A>G (p.His948Arg) n.1877A>G c.2912A>G (p.His971Arg) | |
| 1 | g.6468161T>G | CA338115375 | PLEKHG5 | c.2675A>C (p.His892Pro) c.2849A>C (p.His950Pro) c.2786A>C (p.His929Pro) n.3151A>C c.2882A>C (p.His961Pro) c.2972A>C (p.His991Pro) c.*2887A>C (n.*2887A>C) c.2250-268A>C (n.2250-268A>C) c.*2503A>C (n.*2503A>C) c.548A>C (p.His183Pro) c.2481-268A>C (n.2481-268A>C) c.2906A>C (p.His969Pro) c.2843A>C (p.His948Pro) n.1877A>C c.2912A>C (p.His971Pro) | |
| 1 | g.6468162G>A | CA338115378 | PLEKHG5 | c.2674C>T (p.His892Tyr) c.2848C>T (p.His950Tyr) c.2785C>T (p.His929Tyr) n.3150C>T c.2881C>T (p.His961Tyr) c.2971C>T (p.His991Tyr) c.*2886C>T (n.*2886C>T) c.2250-269C>T (n.2250-269C>T) c.*2502C>T (n.*2502C>T) c.547C>T (p.His183Tyr) c.2481-269C>T (n.2481-269C>T) c.2905C>T (p.His969Tyr) c.2842C>T (p.His948Tyr) n.1876C>T c.2911C>T (p.His971Tyr) | |
| 1 | g.6468162G>C | CA338115383 | PLEKHG5 | c.2674C>G (p.His892Asp) c.2848C>G (p.His950Asp) c.2785C>G (p.His929Asp) n.3150C>G c.2881C>G (p.His961Asp) c.2971C>G (p.His991Asp) c.*2886C>G (n.*2886C>G) c.2250-269C>G (n.2250-269C>G) c.*2502C>G (n.*2502C>G) c.547C>G (p.His183Asp) c.2481-269C>G (n.2481-269C>G) c.2905C>G (p.His969Asp) c.2842C>G (p.His948Asp) n.1876C>G c.2911C>G (p.His971Asp) | |
| 1 | g.6468162G>T | CA338115380 | PLEKHG5 | c.2674C>A (p.His892Asn) c.2848C>A (p.His950Asn) c.2785C>A (p.His929Asn) n.3150C>A c.2881C>A (p.His961Asn) c.2971C>A (p.His991Asn) c.*2886C>A (n.*2886C>A) c.2250-269C>A (n.2250-269C>A) c.*2502C>A (n.*2502C>A) c.547C>A (p.His183Asn) c.2481-269C>A (n.2481-269C>A) c.2905C>A (p.His969Asn) c.2842C>A (p.His948Asn) n.1876C>A c.2911C>A (p.His971Asn) | gnomAD v4 |
| 1 | g.6468163G>A | CA416022544 | PLEKHG5 | c.2673C>T (p.Thr891=) c.2847C>T (p.Thr949=) c.2784C>T (p.Thr928=) n.3149C>T c.2880C>T (p.Thr960=) c.2970C>T (p.Thr990=) c.*2885C>T (n.*2885C>T) c.2250-270C>T (n.2250-270C>T) c.*2501C>T (n.*2501C>T) c.546C>T (p.Thr182=) c.2481-270C>T (n.2481-270C>T) c.2904C>T (p.Thr968=) c.2841C>T (p.Thr947=) n.1875C>T c.2910C>T (p.Thr970=) | gnomAD v4 |
| 1 | g.6468163G>C | CA416022546 | PLEKHG5 | c.2673C>G (p.Thr891=) c.2847C>G (p.Thr949=) c.2784C>G (p.Thr928=) n.3149C>G c.2880C>G (p.Thr960=) c.2970C>G (p.Thr990=) c.*2885C>G (n.*2885C>G) c.2250-270C>G (n.2250-270C>G) c.*2501C>G (n.*2501C>G) c.546C>G (p.Thr182=) c.2481-270C>G (n.2481-270C>G) c.2904C>G (p.Thr968=) c.2841C>G (p.Thr947=) n.1875C>G c.2910C>G (p.Thr970=) | |
| 1 | g.6468163G>T | CA416022548 | PLEKHG5 | c.2673C>A (p.Thr891=) c.2847C>A (p.Thr949=) c.2784C>A (p.Thr928=) n.3149C>A c.2880C>A (p.Thr960=) c.2970C>A (p.Thr990=) c.*2885C>A (n.*2885C>A) c.2250-270C>A (n.2250-270C>A) c.*2501C>A (n.*2501C>A) c.546C>A (p.Thr182=) c.2481-270C>A (n.2481-270C>A) c.2904C>A (p.Thr968=) c.2841C>A (p.Thr947=) n.1875C>A c.2910C>A (p.Thr970=) | |
| 1 | g.6468164G>A | CA338115384 | PLEKHG5 | c.2672C>T (p.Thr891Ile) c.2846C>T (p.Thr949Ile) c.2783C>T (p.Thr928Ile) n.3148C>T c.2879C>T (p.Thr960Ile) c.2969C>T (p.Thr990Ile) c.*2884C>T (n.*2884C>T) c.2250-271C>T (n.2250-271C>T) c.*2500C>T (n.*2500C>T) c.545C>T (p.Thr182Ile) c.2481-271C>T (n.2481-271C>T) c.2903C>T (p.Thr968Ile) c.2840C>T (p.Thr947Ile) n.1874C>T c.2909C>T (p.Thr970Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.6468164G>C | CA338115386 | PLEKHG5 | c.2672C>G (p.Thr891Ser) c.2846C>G (p.Thr949Ser) c.2783C>G (p.Thr928Ser) n.3148C>G c.2879C>G (p.Thr960Ser) c.2969C>G (p.Thr990Ser) c.*2884C>G (n.*2884C>G) c.2250-271C>G (n.2250-271C>G) c.*2500C>G (n.*2500C>G) c.545C>G (p.Thr182Ser) c.2481-271C>G (n.2481-271C>G) c.2903C>G (p.Thr968Ser) c.2840C>G (p.Thr947Ser) n.1874C>G c.2909C>G (p.Thr970Ser) | |
| 1 | g.6468164G>T | CA338115389 | PLEKHG5 | c.2672C>A (p.Thr891Asn) c.2846C>A (p.Thr949Asn) c.2783C>A (p.Thr928Asn) n.3148C>A c.2879C>A (p.Thr960Asn) c.2969C>A (p.Thr990Asn) c.*2884C>A (n.*2884C>A) c.2250-271C>A (n.2250-271C>A) c.*2500C>A (n.*2500C>A) c.545C>A (p.Thr182Asn) c.2481-271C>A (n.2481-271C>A) c.2903C>A (p.Thr968Asn) c.2840C>A (p.Thr947Asn) n.1874C>A c.2909C>A (p.Thr970Asn) | |
| 1 | g.6468165T>A | CA338115393 | PLEKHG5 | c.2671A>T (p.Thr891Ser) c.2845A>T (p.Thr949Ser) c.2782A>T (p.Thr928Ser) n.3147A>T c.2878A>T (p.Thr960Ser) c.2968A>T (p.Thr990Ser) c.*2883A>T (n.*2883A>T) c.2250-272A>T (n.2250-272A>T) c.*2499A>T (n.*2499A>T) c.544A>T (p.Thr182Ser) c.2481-272A>T (n.2481-272A>T) c.2902A>T (p.Thr968Ser) c.2839A>T (p.Thr947Ser) n.1873A>T c.2908A>T (p.Thr970Ser) | |
| 1 | g.6468165T>C | CA338115395 | PLEKHG5 | c.2671A>G (p.Thr891Ala) c.2845A>G (p.Thr949Ala) c.2782A>G (p.Thr928Ala) n.3147A>G c.2878A>G (p.Thr960Ala) c.2968A>G (p.Thr990Ala) c.*2883A>G (n.*2883A>G) c.2250-272A>G (n.2250-272A>G) c.*2499A>G (n.*2499A>G) c.544A>G (p.Thr182Ala) c.2481-272A>G (n.2481-272A>G) c.2902A>G (p.Thr968Ala) c.2839A>G (p.Thr947Ala) n.1873A>G c.2908A>G (p.Thr970Ala) | |
| 1 | g.6468165T>G | CA338115396 | PLEKHG5 | c.2671A>C (p.Thr891Pro) c.2845A>C (p.Thr949Pro) c.2782A>C (p.Thr928Pro) n.3147A>C c.2878A>C (p.Thr960Pro) c.2968A>C (p.Thr990Pro) c.*2883A>C (n.*2883A>C) c.2250-272A>C (n.2250-272A>C) c.*2499A>C (n.*2499A>C) c.544A>C (p.Thr182Pro) c.2481-272A>C (n.2481-272A>C) c.2902A>C (p.Thr968Pro) c.2839A>C (p.Thr947Pro) n.1873A>C c.2908A>C (p.Thr970Pro) | dbSNP |
| 1 | g.6468165T= | CA1151517460 | PLEKHG5 | c.2671A= (p.Thr891=) c.2845A= (p.Thr949=) c.2782A= (p.Thr928=) n.3147A= c.2878A= (p.Thr960=) c.2968A= (p.Thr990=) c.*2883A= (n.*2883A=) c.2250-272A= (n.2250-272A=) c.*2499A= (n.*2499A=) c.544A= (p.Thr182=) c.2481-272A= (n.2481-272A=) c.2902A= (p.Thr968=) c.2839A= (p.Thr947=) n.1873A= c.2908A= (p.Thr970=) | |
| 1 | g.6468166G>A | CA416022553 | PLEKHG5 | c.2670C>T (p.Gly890=) c.2844C>T (p.Gly948=) c.2781C>T (p.Gly927=) n.3146C>T c.2877C>T (p.Gly959=) c.2967C>T (p.Gly989=) c.*2882C>T (n.*2882C>T) c.2250-273C>T (n.2250-273C>T) c.*2498C>T (n.*2498C>T) c.543C>T (p.Gly181=) c.2481-273C>T (n.2481-273C>T) c.2901C>T (p.Gly967=) c.2838C>T (p.Gly946=) n.1872C>T c.2907C>T (p.Gly969=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6468166G>C | CA416022556 | PLEKHG5 | c.2670C>G (p.Gly890=) c.2844C>G (p.Gly948=) c.2781C>G (p.Gly927=) n.3146C>G c.2877C>G (p.Gly959=) c.2967C>G (p.Gly989=) c.*2882C>G (n.*2882C>G) c.2250-273C>G (n.2250-273C>G) c.*2498C>G (n.*2498C>G) c.543C>G (p.Gly181=) c.2481-273C>G (n.2481-273C>G) c.2901C>G (p.Gly967=) c.2838C>G (p.Gly946=) n.1872C>G c.2907C>G (p.Gly969=) | dbSNP gnomAD v2 |
| 1 | g.6468166G= | CA1151517466 | PLEKHG5 | c.2670C= (p.Gly890=) c.2844C= (p.Gly948=) c.2781C= (p.Gly927=) n.3146C= c.2877C= (p.Gly959=) c.2967C= (p.Gly989=) c.*2882C= (n.*2882C=) c.2250-273C= (n.2250-273C=) c.*2498C= (n.*2498C=) c.543C= (p.Gly181=) c.2481-273C= (n.2481-273C=) c.2901C= (p.Gly967=) c.2838C= (p.Gly946=) n.1872C= c.2907C= (p.Gly969=) | |
| 1 | g.6468166G>T | CA416022557 | PLEKHG5 | c.2670C>A (p.Gly890=) c.2844C>A (p.Gly948=) c.2781C>A (p.Gly927=) n.3146C>A c.2877C>A (p.Gly959=) c.2967C>A (p.Gly989=) c.*2882C>A (n.*2882C>A) c.2250-273C>A (n.2250-273C>A) c.*2498C>A (n.*2498C>A) c.543C>A (p.Gly181=) c.2481-273C>A (n.2481-273C>A) c.2901C>A (p.Gly967=) c.2838C>A (p.Gly946=) n.1872C>A c.2907C>A (p.Gly969=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.6468167C>A | CA338115398 | PLEKHG5 | c.2669G>T (p.Gly890Val) c.2843G>T (p.Gly948Val) c.2780G>T (p.Gly927Val) n.3145G>T c.2876G>T (p.Gly959Val) c.2966G>T (p.Gly989Val) c.*2881G>T (n.*2881G>T) c.2250-274G>T (n.2250-274G>T) c.*2497G>T (n.*2497G>T) c.542G>T (p.Gly181Val) c.2481-274G>T (n.2481-274G>T) c.2900G>T (p.Gly967Val) c.2837G>T (p.Gly946Val) n.1871G>T c.2906G>T (p.Gly969Val) | gnomAD v4 |
| 1 | g.6468167C= | CA1151517502 | PLEKHG5 | c.2669G= (p.Gly890=) c.2843G= (p.Gly948=) c.2780G= (p.Gly927=) n.3145G= c.2876G= (p.Gly959=) c.2966G= (p.Gly989=) c.*2881G= (n.*2881G=) c.2250-274G= (n.2250-274G=) c.*2497G= (n.*2497G=) c.542G= (p.Gly181=) c.2481-274G= (n.2481-274G=) c.2900G= (p.Gly967=) c.2837G= (p.Gly946=) n.1871G= c.2906G= (p.Gly969=) | |
| 1 | g.6468167C>G | CA561113 | PLEKHG5 | c.2669G>C (p.Gly890Ala) c.2843G>C (p.Gly948Ala) c.2780G>C (p.Gly927Ala) n.3145G>C c.2876G>C (p.Gly959Ala) c.2966G>C (p.Gly989Ala) c.*2881G>C (n.*2881G>C) c.2250-274G>C (n.2250-274G>C) c.*2497G>C (n.*2497G>C) c.542G>C (p.Gly181Ala) c.2481-274G>C (n.2481-274G>C) c.2900G>C (p.Gly967Ala) c.2837G>C (p.Gly946Ala) n.1871G>C c.2906G>C (p.Gly969Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.6468167C>T | CA338115401 | PLEKHG5 | c.2669G>A (p.Gly890Asp) c.2843G>A (p.Gly948Asp) c.2780G>A (p.Gly927Asp) n.3145G>A c.2876G>A (p.Gly959Asp) c.2966G>A (p.Gly989Asp) c.*2881G>A (n.*2881G>A) c.2250-274G>A (n.2250-274G>A) c.*2497G>A (n.*2497G>A) c.542G>A (p.Gly181Asp) c.2481-274G>A (n.2481-274G>A) c.2900G>A (p.Gly967Asp) c.2837G>A (p.Gly946Asp) n.1871G>A c.2906G>A (p.Gly969Asp) | gnomAD v4 |
| 1 | g.6468168C>A | CA338115405 | PLEKHG5 | c.2668G>T (p.Gly890Cys) c.2842G>T (p.Gly948Cys) c.2779G>T (p.Gly927Cys) n.3144G>T c.2875G>T (p.Gly959Cys) c.2965G>T (p.Gly989Cys) c.*2880G>T (n.*2880G>T) c.2250-275G>T (n.2250-275G>T) c.*2496G>T (n.*2496G>T) c.541G>T (p.Gly181Cys) c.2481-275G>T (n.2481-275G>T) c.2899G>T (p.Gly967Cys) c.2836G>T (p.Gly946Cys) n.1870G>T c.2905G>T (p.Gly969Cys) | gnomAD v4 |
| 1 | g.6468168C= | CA1151517510 | PLEKHG5 | c.2668G= (p.Gly890=) c.2842G= (p.Gly948=) c.2779G= (p.Gly927=) n.3144G= c.2875G= (p.Gly959=) c.2965G= (p.Gly989=) c.*2880G= (n.*2880G=) c.2250-275G= (n.2250-275G=) c.*2496G= (n.*2496G=) c.541G= (p.Gly181=) c.2481-275G= (n.2481-275G=) c.2899G= (p.Gly967=) c.2836G= (p.Gly946=) n.1870G= c.2905G= (p.Gly969=) | |
| 1 | g.6468168C>G | CA338115406 | PLEKHG5 | c.2668G>C (p.Gly890Arg) c.2842G>C (p.Gly948Arg) c.2779G>C (p.Gly927Arg) n.3144G>C c.2875G>C (p.Gly959Arg) c.2965G>C (p.Gly989Arg) c.*2880G>C (n.*2880G>C) c.2250-275G>C (n.2250-275G>C) c.*2496G>C (n.*2496G>C) c.541G>C (p.Gly181Arg) c.2481-275G>C (n.2481-275G>C) c.2899G>C (p.Gly967Arg) c.2836G>C (p.Gly946Arg) n.1870G>C c.2905G>C (p.Gly969Arg) | |
| 1 | g.6468168C>T | CA338115408 | PLEKHG5 | c.2668G>A (p.Gly890Ser) c.2842G>A (p.Gly948Ser) c.2779G>A (p.Gly927Ser) n.3144G>A c.2875G>A (p.Gly959Ser) c.2965G>A (p.Gly989Ser) c.*2880G>A (n.*2880G>A) c.2250-275G>A (n.2250-275G>A) c.*2496G>A (n.*2496G>A) c.541G>A (p.Gly181Ser) c.2481-275G>A (n.2481-275G>A) c.2899G>A (p.Gly967Ser) c.2836G>A (p.Gly946Ser) n.1870G>A c.2905G>A (p.Gly969Ser) | dbSNP gnomAD v4 |
| 1 | g.6468169A>C | CA416022564 | PLEKHG5 | c.2667T>G (p.Ala889=) c.2841T>G (p.Ala947=) c.2778T>G (p.Ala926=) n.3143T>G c.2874T>G (p.Ala958=) c.2964T>G (p.Ala988=) c.*2879T>G (n.*2879T>G) c.2250-276T>G (n.2250-276T>G) c.*2495T>G (n.*2495T>G) c.540T>G (p.Ala180=) c.2481-276T>G (n.2481-276T>G) c.2898T>G (p.Ala966=) c.2835T>G (p.Ala945=) n.1869T>G c.2904T>G (p.Ala968=) | |
| 1 | g.6468169A>G | CA416022566 | PLEKHG5 | c.2667T>C (p.Ala889=) c.2841T>C (p.Ala947=) c.2778T>C (p.Ala926=) n.3143T>C c.2874T>C (p.Ala958=) c.2964T>C (p.Ala988=) c.*2879T>C (n.*2879T>C) c.2250-276T>C (n.2250-276T>C) c.*2495T>C (n.*2495T>C) c.540T>C (p.Ala180=) c.2481-276T>C (n.2481-276T>C) c.2898T>C (p.Ala966=) c.2835T>C (p.Ala945=) n.1869T>C c.2904T>C (p.Ala968=) | |
| 1 | g.6468169A>T | CA416022567 | PLEKHG5 | c.2667T>A (p.Ala889=) c.2841T>A (p.Ala947=) c.2778T>A (p.Ala926=) n.3143T>A c.2874T>A (p.Ala958=) c.2964T>A (p.Ala988=) c.*2879T>A (n.*2879T>A) c.2250-276T>A (n.2250-276T>A) c.*2495T>A (n.*2495T>A) c.540T>A (p.Ala180=) c.2481-276T>A (n.2481-276T>A) c.2898T>A (p.Ala966=) c.2835T>A (p.Ala945=) n.1869T>A c.2904T>A (p.Ala968=) | |
| 1 | g.6468170G>A | CA338115414 | PLEKHG5 | c.2666C>T (p.Ala889Val) c.2840C>T (p.Ala947Val) c.2777C>T (p.Ala926Val) n.3142C>T c.2873C>T (p.Ala958Val) c.2963C>T (p.Ala988Val) c.*2878C>T (n.*2878C>T) c.2250-277C>T (n.2250-277C>T) c.*2494C>T (n.*2494C>T) c.539C>T (p.Ala180Val) c.2481-277C>T (n.2481-277C>T) c.2897C>T (p.Ala966Val) c.2834C>T (p.Ala945Val) n.1868C>T c.2903C>T (p.Ala968Val) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.6468170G>C | CA338115410 | PLEKHG5 | c.2666C>G (p.Ala889Gly) c.2840C>G (p.Ala947Gly) c.2777C>G (p.Ala926Gly) n.3142C>G c.2873C>G (p.Ala958Gly) c.2963C>G (p.Ala988Gly) c.*2878C>G (n.*2878C>G) c.2250-277C>G (n.2250-277C>G) c.*2494C>G (n.*2494C>G) c.539C>G (p.Ala180Gly) c.2481-277C>G (n.2481-277C>G) c.2897C>G (p.Ala966Gly) c.2834C>G (p.Ala945Gly) n.1868C>G c.2903C>G (p.Ala968Gly) | |
| 1 | g.6468170G= | CA1151517519 | PLEKHG5 | c.2666C= (p.Ala889=) c.2840C= (p.Ala947=) c.2777C= (p.Ala926=) n.3142C= c.2873C= (p.Ala958=) c.2963C= (p.Ala988=) c.*2878C= (n.*2878C=) c.2250-277C= (n.2250-277C=) c.*2494C= (n.*2494C=) c.539C= (p.Ala180=) c.2481-277C= (n.2481-277C=) c.2897C= (p.Ala966=) c.2834C= (p.Ala945=) n.1868C= c.2903C= (p.Ala968=) | |
| 1 | g.6468170G>T | CA338115411 | PLEKHG5 | c.2666C>A (p.Ala889Asp) c.2840C>A (p.Ala947Asp) c.2777C>A (p.Ala926Asp) n.3142C>A c.2873C>A (p.Ala958Asp) c.2963C>A (p.Ala988Asp) c.*2878C>A (n.*2878C>A) c.2250-277C>A (n.2250-277C>A) c.*2494C>A (n.*2494C>A) c.539C>A (p.Ala180Asp) c.2481-277C>A (n.2481-277C>A) c.2897C>A (p.Ala966Asp) c.2834C>A (p.Ala945Asp) n.1868C>A c.2903C>A (p.Ala968Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 1 | g.6468171C>A | CA338115418 | PLEKHG5 | c.2665G>T (p.Ala889Ser) c.2839G>T (p.Ala947Ser) c.2776G>T (p.Ala926Ser) n.3141G>T c.2872G>T (p.Ala958Ser) c.2962G>T (p.Ala988Ser) c.*2877G>T (n.*2877G>T) c.2250-278G>T (n.2250-278G>T) c.*2493G>T (n.*2493G>T) c.538G>T (p.Ala180Ser) c.2481-278G>T (n.2481-278G>T) c.2896G>T (p.Ala966Ser) c.2833G>T (p.Ala945Ser) n.1867G>T c.2902G>T (p.Ala968Ser) | |
| 1 | g.6468171C= | CA1151517524 | PLEKHG5 | c.2665G= (p.Ala889=) c.2839G= (p.Ala947=) c.2776G= (p.Ala926=) n.3141G= c.2872G= (p.Ala958=) c.2962G= (p.Ala988=) c.*2877G= (n.*2877G=) c.2250-278G= (n.2250-278G=) c.*2493G= (n.*2493G=) c.538G= (p.Ala180=) c.2481-278G= (n.2481-278G=) c.2896G= (p.Ala966=) c.2833G= (p.Ala945=) n.1867G= c.2902G= (p.Ala968=) | |
| 1 | g.6468171C>G | CA338115421 | PLEKHG5 | c.2665G>C (p.Ala889Pro) c.2839G>C (p.Ala947Pro) c.2776G>C (p.Ala926Pro) n.3141G>C c.2872G>C (p.Ala958Pro) c.2962G>C (p.Ala988Pro) c.*2877G>C (n.*2877G>C) c.2250-278G>C (n.2250-278G>C) c.*2493G>C (n.*2493G>C) c.538G>C (p.Ala180Pro) c.2481-278G>C (n.2481-278G>C) c.2896G>C (p.Ala966Pro) c.2833G>C (p.Ala945Pro) n.1867G>C c.2902G>C (p.Ala968Pro) | |
| 1 | g.6468171C>T | CA338115424 | PLEKHG5 | c.2665G>A (p.Ala889Thr) c.2839G>A (p.Ala947Thr) c.2776G>A (p.Ala926Thr) n.3141G>A c.2872G>A (p.Ala958Thr) c.2962G>A (p.Ala988Thr) c.*2877G>A (n.*2877G>A) c.2250-278G>A (n.2250-278G>A) c.*2493G>A (n.*2493G>A) c.538G>A (p.Ala180Thr) c.2481-278G>A (n.2481-278G>A) c.2896G>A (p.Ala966Thr) c.2833G>A (p.Ala945Thr) n.1867G>A c.2902G>A (p.Ala968Thr) | dbSNP gnomAD v2 |
| 1 | g.6468174del | CA2740090572 | PLEKHG5 | c.2665del (p.Ala889LeufsTer?) c.2839del (p.Ala947LeufsTer?) c.2776del (p.Ala926LeufsTer?) n.3141del c.2872del (p.Ala958LeufsTer?) c.2962del (p.Ala988LeufsTer?) c.*2877del (n.*2877del) c.2250-278del (n.2250-278del) c.*2493del (n.*2493del) c.538del (p.Ala180LeufsTer?) c.2481-278del (n.2481-278del) c.2896del (p.Ala966LeufsTer?) c.2833del (p.Ala945LeufsTer?) n.1867del c.2902del (p.Ala968LeufsTer?) | ClinVar |
| 1 | g.6468172C>A | CA416022572 | PLEKHG5 | c.2664G>T (p.Gly888=) c.2838G>T (p.Gly946=) c.2775G>T (p.Gly925=) n.3140G>T c.2871G>T (p.Gly957=) c.2961G>T (p.Gly987=) c.*2876G>T (n.*2876G>T) c.2250-279G>T (n.2250-279G>T) c.*2492G>T (n.*2492G>T) c.537G>T (p.Gly179=) c.2481-279G>T (n.2481-279G>T) c.2895G>T (p.Gly965=) c.2832G>T (p.Gly944=) n.1866G>T c.2901G>T (p.Gly967=) | ClinVar dbSNP |
| 1 | g.6468172C= | CA1151517530 | PLEKHG5 | c.2664G= (p.Gly888=) c.2838G= (p.Gly946=) c.2775G= (p.Gly925=) n.3140G= c.2871G= (p.Gly957=) c.2961G= (p.Gly987=) c.*2876G= (n.*2876G=) c.2250-279G= (n.2250-279G=) c.*2492G= (n.*2492G=) c.537G= (p.Gly179=) c.2481-279G= (n.2481-279G=) c.2895G= (p.Gly965=) c.2832G= (p.Gly944=) n.1866G= c.2901G= (p.Gly967=) | |
| 1 | g.6468172C>G | CA416022575 | PLEKHG5 | c.2664G>C (p.Gly888=) c.2838G>C (p.Gly946=) c.2775G>C (p.Gly925=) n.3140G>C c.2871G>C (p.Gly957=) c.2961G>C (p.Gly987=) c.*2876G>C (n.*2876G>C) c.2250-279G>C (n.2250-279G>C) c.*2492G>C (n.*2492G>C) c.537G>C (p.Gly179=) c.2481-279G>C (n.2481-279G>C) c.2895G>C (p.Gly965=) c.2832G>C (p.Gly944=) n.1866G>C c.2901G>C (p.Gly967=) | |
| 1 | g.6468172C>T | CA416022577 | PLEKHG5 | c.2664G>A (p.Gly888=) c.2838G>A (p.Gly946=) c.2775G>A (p.Gly925=) n.3140G>A c.2871G>A (p.Gly957=) c.2961G>A (p.Gly987=) c.*2876G>A (n.*2876G>A) c.2250-279G>A (n.2250-279G>A) c.*2492G>A (n.*2492G>A) c.537G>A (p.Gly179=) c.2481-279G>A (n.2481-279G>A) c.2895G>A (p.Gly965=) c.2832G>A (p.Gly944=) n.1866G>A c.2901G>A (p.Gly967=) | |
| 1 | g.6468173C>A | CA338115425 | PLEKHG5 | c.2663G>T (p.Gly888Val) c.2837G>T (p.Gly946Val) c.2774G>T (p.Gly925Val) n.3139G>T c.2870G>T (p.Gly957Val) c.2960G>T (p.Gly987Val) c.*2875G>T (n.*2875G>T) c.2250-280G>T (n.2250-280G>T) c.*2491G>T (n.*2491G>T) c.536G>T (p.Gly179Val) c.2481-280G>T (n.2481-280G>T) c.2894G>T (p.Gly965Val) c.2831G>T (p.Gly944Val) n.1865G>T c.2900G>T (p.Gly967Val) | gnomAD v4 |
| 1 | g.6468173C= | CA1148286744 | PLEKHG5 | c.2663G= (p.Gly888=) c.2837G= (p.Gly946=) c.2774G= (p.Gly925=) n.3139G= c.2870G= (p.Gly957=) c.2960G= (p.Gly987=) c.*2875G= (n.*2875G=) c.2250-280G= (n.2250-280G=) c.*2491G= (n.*2491G=) c.536G= (p.Gly179=) c.2481-280G= (n.2481-280G=) c.2894G= (p.Gly965=) c.2831G= (p.Gly944=) n.1865G= c.2900G= (p.Gly967=) |