Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.6468430C>A | CA416022101 | PLEKHG5 | c.2406G>T (p.Leu802=) c.2580G>T (p.Leu860=) c.2517G>T (p.Leu839=) n.2882G>T c.2613G>T (p.Leu871=) c.2703G>T (p.Leu901=) c.*2618G>T (n.*2618G>T) c.2250-537G>T (n.2250-537G>T) c.*2234G>T (n.*2234G>T) c.279G>T (p.Leu93=) c.2481-537G>T (n.2481-537G>T) c.2637G>T (p.Leu879=) c.2574G>T (p.Leu858=) n.1608G>T c.2643G>T (p.Leu881=) | |
1 | g.6468430C>G | CA416022102 | PLEKHG5 | c.2406G>C (p.Leu802=) c.2580G>C (p.Leu860=) c.2517G>C (p.Leu839=) n.2882G>C c.2613G>C (p.Leu871=) c.2703G>C (p.Leu901=) c.*2618G>C (n.*2618G>C) c.2250-537G>C (n.2250-537G>C) c.*2234G>C (n.*2234G>C) c.279G>C (p.Leu93=) c.2481-537G>C (n.2481-537G>C) c.2637G>C (p.Leu879=) c.2574G>C (p.Leu858=) n.1608G>C c.2643G>C (p.Leu881=) | |
1 | g.6468430C>T | CA416022103 | PLEKHG5 | c.2406G>A (p.Leu802=) c.2580G>A (p.Leu860=) c.2517G>A (p.Leu839=) n.2882G>A c.2613G>A (p.Leu871=) c.2703G>A (p.Leu901=) c.*2618G>A (n.*2618G>A) c.2250-537G>A (n.2250-537G>A) c.*2234G>A (n.*2234G>A) c.279G>A (p.Leu93=) c.2481-537G>A (n.2481-537G>A) c.2637G>A (p.Leu879=) c.2574G>A (p.Leu858=) n.1608G>A c.2643G>A (p.Leu881=) | |
1 | g.6468431A>C | CA338117152 | PLEKHG5 | c.2405T>G (p.Leu802Arg) c.2579T>G (p.Leu860Arg) c.2516T>G (p.Leu839Arg) n.2881T>G c.2612T>G (p.Leu871Arg) c.2702T>G (p.Leu901Arg) c.*2617T>G (n.*2617T>G) c.2250-538T>G (n.2250-538T>G) c.*2233T>G (n.*2233T>G) c.278T>G (p.Leu93Arg) c.2481-538T>G (n.2481-538T>G) c.2636T>G (p.Leu879Arg) c.2573T>G (p.Leu858Arg) n.1607T>G c.2642T>G (p.Leu881Arg) | |
1 | g.6468431A>G | CA338117155 | PLEKHG5 | c.2405T>C (p.Leu802Pro) c.2579T>C (p.Leu860Pro) c.2516T>C (p.Leu839Pro) n.2881T>C c.2612T>C (p.Leu871Pro) c.2702T>C (p.Leu901Pro) c.*2617T>C (n.*2617T>C) c.2250-538T>C (n.2250-538T>C) c.*2233T>C (n.*2233T>C) c.278T>C (p.Leu93Pro) c.2481-538T>C (n.2481-538T>C) c.2636T>C (p.Leu879Pro) c.2573T>C (p.Leu858Pro) n.1607T>C c.2642T>C (p.Leu881Pro) | |
1 | g.6468431A>T | CA338117165 | PLEKHG5 | c.2405T>A (p.Leu802Gln) c.2579T>A (p.Leu860Gln) c.2516T>A (p.Leu839Gln) n.2881T>A c.2612T>A (p.Leu871Gln) c.2702T>A (p.Leu901Gln) c.*2617T>A (n.*2617T>A) c.2250-538T>A (n.2250-538T>A) c.*2233T>A (n.*2233T>A) c.278T>A (p.Leu93Gln) c.2481-538T>A (n.2481-538T>A) c.2636T>A (p.Leu879Gln) c.2573T>A (p.Leu858Gln) n.1607T>A c.2642T>A (p.Leu881Gln) | |
1 | g.6468432G>A | CA416022104 | PLEKHG5 | c.2404C>T (p.Leu802=) c.2578C>T (p.Leu860=) c.2515C>T (p.Leu839=) n.2880C>T c.2611C>T (p.Leu871=) c.2701C>T (p.Leu901=) c.*2616C>T (n.*2616C>T) c.2250-539C>T (n.2250-539C>T) c.*2232C>T (n.*2232C>T) c.277C>T (p.Leu93=) c.2481-539C>T (n.2481-539C>T) c.2635C>T (p.Leu879=) c.2572C>T (p.Leu858=) n.1606C>T c.2641C>T (p.Leu881=) | gnomAD v4 |
1 | g.6468432G>C | CA338117167 | PLEKHG5 | c.2404C>G (p.Leu802Val) c.2578C>G (p.Leu860Val) c.2515C>G (p.Leu839Val) n.2880C>G c.2611C>G (p.Leu871Val) c.2701C>G (p.Leu901Val) c.*2616C>G (n.*2616C>G) c.2250-539C>G (n.2250-539C>G) c.*2232C>G (n.*2232C>G) c.277C>G (p.Leu93Val) c.2481-539C>G (n.2481-539C>G) c.2635C>G (p.Leu879Val) c.2572C>G (p.Leu858Val) n.1606C>G c.2641C>G (p.Leu881Val) | |
1 | g.6468432G>T | CA338117171 | PLEKHG5 | c.2404C>A (p.Leu802Met) c.2578C>A (p.Leu860Met) c.2515C>A (p.Leu839Met) n.2880C>A c.2611C>A (p.Leu871Met) c.2701C>A (p.Leu901Met) c.*2616C>A (n.*2616C>A) c.2250-539C>A (n.2250-539C>A) c.*2232C>A (n.*2232C>A) c.277C>A (p.Leu93Met) c.2481-539C>A (n.2481-539C>A) c.2635C>A (p.Leu879Met) c.2572C>A (p.Leu858Met) n.1606C>A c.2641C>A (p.Leu881Met) | |
1 | g.6468433C>A | CA338117175 | PLEKHG5 | c.2403G>T (p.Glu801Asp) c.2577G>T (p.Glu859Asp) c.2514G>T (p.Glu838Asp) n.2879G>T c.2610G>T (p.Glu870Asp) c.2700G>T (p.Glu900Asp) c.*2615G>T (n.*2615G>T) c.2250-540G>T (n.2250-540G>T) c.*2231G>T (n.*2231G>T) c.276G>T (p.Glu92Asp) c.2481-540G>T (n.2481-540G>T) c.2634G>T (p.Glu878Asp) c.2571G>T (p.Glu857Asp) n.1605G>T c.2640G>T (p.Glu880Asp) | |
1 | g.6468433C>G | CA338117178 | PLEKHG5 | c.2403G>C (p.Glu801Asp) c.2577G>C (p.Glu859Asp) c.2514G>C (p.Glu838Asp) n.2879G>C c.2610G>C (p.Glu870Asp) c.2700G>C (p.Glu900Asp) c.*2615G>C (n.*2615G>C) c.2250-540G>C (n.2250-540G>C) c.*2231G>C (n.*2231G>C) c.276G>C (p.Glu92Asp) c.2481-540G>C (n.2481-540G>C) c.2634G>C (p.Glu878Asp) c.2571G>C (p.Glu857Asp) n.1605G>C c.2640G>C (p.Glu880Asp) | |
1 | g.6468433C>T | CA416022105 | PLEKHG5 | c.2403G>A (p.Glu801=) c.2577G>A (p.Glu859=) c.2514G>A (p.Glu838=) n.2879G>A c.2610G>A (p.Glu870=) c.2700G>A (p.Glu900=) c.*2615G>A (n.*2615G>A) c.2250-540G>A (n.2250-540G>A) c.*2231G>A (n.*2231G>A) c.276G>A (p.Glu92=) c.2481-540G>A (n.2481-540G>A) c.2634G>A (p.Glu878=) c.2571G>A (p.Glu857=) n.1605G>A c.2640G>A (p.Glu880=) | |
1 | g.6468434T>A | CA338117183 | PLEKHG5 | c.2402A>T (p.Glu801Val) c.2576A>T (p.Glu859Val) c.2513A>T (p.Glu838Val) n.2878A>T c.2609A>T (p.Glu870Val) c.2699A>T (p.Glu900Val) c.*2614A>T (n.*2614A>T) c.2250-541A>T (n.2250-541A>T) c.*2230A>T (n.*2230A>T) c.275A>T (p.Glu92Val) c.2481-541A>T (n.2481-541A>T) c.2633A>T (p.Glu878Val) c.2570A>T (p.Glu857Val) n.1604A>T c.2639A>T (p.Glu880Val) | |
1 | g.6468434T>C | CA338117186 | PLEKHG5 | c.2402A>G (p.Glu801Gly) c.2576A>G (p.Glu859Gly) c.2513A>G (p.Glu838Gly) n.2878A>G c.2609A>G (p.Glu870Gly) c.2699A>G (p.Glu900Gly) c.*2614A>G (n.*2614A>G) c.2250-541A>G (n.2250-541A>G) c.*2230A>G (n.*2230A>G) c.275A>G (p.Glu92Gly) c.2481-541A>G (n.2481-541A>G) c.2633A>G (p.Glu878Gly) c.2570A>G (p.Glu857Gly) n.1604A>G c.2639A>G (p.Glu880Gly) | |
1 | g.6468434T>G | CA338117189 | PLEKHG5 | c.2402A>C (p.Glu801Ala) c.2576A>C (p.Glu859Ala) c.2513A>C (p.Glu838Ala) n.2878A>C c.2609A>C (p.Glu870Ala) c.2699A>C (p.Glu900Ala) c.*2614A>C (n.*2614A>C) c.2250-541A>C (n.2250-541A>C) c.*2230A>C (n.*2230A>C) c.275A>C (p.Glu92Ala) c.2481-541A>C (n.2481-541A>C) c.2633A>C (p.Glu878Ala) c.2570A>C (p.Glu857Ala) n.1604A>C c.2639A>C (p.Glu880Ala) | |
1 | g.6468435C>A | CA338117195 | PLEKHG5 | c.2401G>T (p.Glu801Ter) c.2575G>T (p.Glu859Ter) c.2512G>T (p.Glu838Ter) n.2877G>T c.2608G>T (p.Glu870Ter) c.2698G>T (p.Glu900Ter) c.*2613G>T (n.*2613G>T) c.2250-542G>T (n.2250-542G>T) c.*2229G>T (n.*2229G>T) c.274G>T (p.Glu92Ter) c.2481-542G>T (n.2481-542G>T) c.2632G>T (p.Glu878Ter) c.2569G>T (p.Glu857Ter) n.1603G>T c.2638G>T (p.Glu880Ter) | |
1 | g.6468435C>G | CA338117197 | PLEKHG5 | c.2401G>C (p.Glu801Gln) c.2575G>C (p.Glu859Gln) c.2512G>C (p.Glu838Gln) n.2877G>C c.2608G>C (p.Glu870Gln) c.2698G>C (p.Glu900Gln) c.*2613G>C (n.*2613G>C) c.2250-542G>C (n.2250-542G>C) c.*2229G>C (n.*2229G>C) c.274G>C (p.Glu92Gln) c.2481-542G>C (n.2481-542G>C) c.2632G>C (p.Glu878Gln) c.2569G>C (p.Glu857Gln) n.1603G>C c.2638G>C (p.Glu880Gln) | |
1 | g.6468435C>T | CA338117199 | PLEKHG5 | c.2401G>A (p.Glu801Lys) c.2575G>A (p.Glu859Lys) c.2512G>A (p.Glu838Lys) n.2877G>A c.2608G>A (p.Glu870Lys) c.2698G>A (p.Glu900Lys) c.*2613G>A (n.*2613G>A) c.2250-542G>A (n.2250-542G>A) c.*2229G>A (n.*2229G>A) c.274G>A (p.Glu92Lys) c.2481-542G>A (n.2481-542G>A) c.2632G>A (p.Glu878Lys) c.2569G>A (p.Glu857Lys) n.1603G>A c.2638G>A (p.Glu880Lys) | |
1 | g.6468436A= | CA1151518349 | PLEKHG5 | c.2400T= (p.Ser800=) c.2574T= (p.Ser858=) c.2511T= (p.Ser837=) n.2876T= c.2607T= (p.Ser869=) c.2697T= (p.Ser899=) c.*2612T= (n.*2612T=) c.2250-543T= (n.2250-543T=) c.*2228T= (n.*2228T=) c.273T= (p.Ser91=) c.2481-543T= (n.2481-543T=) c.2631T= (p.Ser877=) c.2568T= (p.Ser856=) n.1602T= c.2637T= (p.Ser879=) | |
1 | g.6468436A>C | CA338117202 | PLEKHG5 | c.2400T>G (p.Ser800Arg) c.2574T>G (p.Ser858Arg) c.2511T>G (p.Ser837Arg) n.2876T>G c.2607T>G (p.Ser869Arg) c.2697T>G (p.Ser899Arg) c.*2612T>G (n.*2612T>G) c.2250-543T>G (n.2250-543T>G) c.*2228T>G (n.*2228T>G) c.273T>G (p.Ser91Arg) c.2481-543T>G (n.2481-543T>G) c.2631T>G (p.Ser877Arg) c.2568T>G (p.Ser856Arg) n.1602T>G c.2637T>G (p.Ser879Arg) | gnomAD v4 |
1 | g.6468436A>G | CA561166 | PLEKHG5 | c.2400T>C (p.Ser800=) c.2574T>C (p.Ser858=) c.2511T>C (p.Ser837=) n.2876T>C c.2607T>C (p.Ser869=) c.2697T>C (p.Ser899=) c.*2612T>C (n.*2612T>C) c.2250-543T>C (n.2250-543T>C) c.*2228T>C (n.*2228T>C) c.273T>C (p.Ser91=) c.2481-543T>C (n.2481-543T>C) c.2631T>C (p.Ser877=) c.2568T>C (p.Ser856=) n.1602T>C c.2637T>C (p.Ser879=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468436A>T | CA338117204 | PLEKHG5 | c.2400T>A (p.Ser800Arg) c.2574T>A (p.Ser858Arg) c.2511T>A (p.Ser837Arg) n.2876T>A c.2607T>A (p.Ser869Arg) c.2697T>A (p.Ser899Arg) c.*2612T>A (n.*2612T>A) c.2250-543T>A (n.2250-543T>A) c.*2228T>A (n.*2228T>A) c.273T>A (p.Ser91Arg) c.2481-543T>A (n.2481-543T>A) c.2631T>A (p.Ser877Arg) c.2568T>A (p.Ser856Arg) n.1602T>A c.2637T>A (p.Ser879Arg) | |
1 | g.6468437C>A | CA338117209 | PLEKHG5 | c.2399G>T (p.Ser800Ile) c.2573G>T (p.Ser858Ile) c.2510G>T (p.Ser837Ile) n.2875G>T c.2606G>T (p.Ser869Ile) c.2696G>T (p.Ser899Ile) c.*2611G>T (n.*2611G>T) c.2250-544G>T (n.2250-544G>T) c.*2227G>T (n.*2227G>T) c.272G>T (p.Ser91Ile) c.2481-544G>T (n.2481-544G>T) c.2630G>T (p.Ser877Ile) c.2567G>T (p.Ser856Ile) n.1601G>T c.2636G>T (p.Ser879Ile) | |
1 | g.6468437C>G | CA338117212 | PLEKHG5 | c.2399G>C (p.Ser800Thr) c.2573G>C (p.Ser858Thr) c.2510G>C (p.Ser837Thr) n.2875G>C c.2606G>C (p.Ser869Thr) c.2696G>C (p.Ser899Thr) c.*2611G>C (n.*2611G>C) c.2250-544G>C (n.2250-544G>C) c.*2227G>C (n.*2227G>C) c.272G>C (p.Ser91Thr) c.2481-544G>C (n.2481-544G>C) c.2630G>C (p.Ser877Thr) c.2567G>C (p.Ser856Thr) n.1601G>C c.2636G>C (p.Ser879Thr) | |
1 | g.6468437C>T | CA338117210 | PLEKHG5 | c.2399G>A (p.Ser800Asn) c.2573G>A (p.Ser858Asn) c.2510G>A (p.Ser837Asn) n.2875G>A c.2606G>A (p.Ser869Asn) c.2696G>A (p.Ser899Asn) c.*2611G>A (n.*2611G>A) c.2250-544G>A (n.2250-544G>A) c.*2227G>A (n.*2227G>A) c.272G>A (p.Ser91Asn) c.2481-544G>A (n.2481-544G>A) c.2630G>A (p.Ser877Asn) c.2567G>A (p.Ser856Asn) n.1601G>A c.2636G>A (p.Ser879Asn) | |
1 | g.6468438T>A | CA338117214 | PLEKHG5 | c.2398A>T (p.Ser800Cys) c.2572A>T (p.Ser858Cys) c.2509A>T (p.Ser837Cys) n.2874A>T c.2605A>T (p.Ser869Cys) c.2695A>T (p.Ser899Cys) c.*2610A>T (n.*2610A>T) c.2250-545A>T (n.2250-545A>T) c.*2226A>T (n.*2226A>T) c.271A>T (p.Ser91Cys) c.2481-545A>T (n.2481-545A>T) c.2629A>T (p.Ser877Cys) c.2566A>T (p.Ser856Cys) n.1600A>T c.2635A>T (p.Ser879Cys) | |
1 | g.6468438T>C | CA338117216 | PLEKHG5 | c.2398A>G (p.Ser800Gly) c.2572A>G (p.Ser858Gly) c.2509A>G (p.Ser837Gly) n.2874A>G c.2605A>G (p.Ser869Gly) c.2695A>G (p.Ser899Gly) c.*2610A>G (n.*2610A>G) c.2250-545A>G (n.2250-545A>G) c.*2226A>G (n.*2226A>G) c.271A>G (p.Ser91Gly) c.2481-545A>G (n.2481-545A>G) c.2629A>G (p.Ser877Gly) c.2566A>G (p.Ser856Gly) n.1600A>G c.2635A>G (p.Ser879Gly) | |
1 | g.6468438T>G | CA561167 | PLEKHG5 | c.2398A>C (p.Ser800Arg) c.2572A>C (p.Ser858Arg) c.2509A>C (p.Ser837Arg) n.2874A>C c.2605A>C (p.Ser869Arg) c.2695A>C (p.Ser899Arg) c.*2610A>C (n.*2610A>C) c.2250-545A>C (n.2250-545A>C) c.*2226A>C (n.*2226A>C) c.271A>C (p.Ser91Arg) c.2481-545A>C (n.2481-545A>C) c.2629A>C (p.Ser877Arg) c.2566A>C (p.Ser856Arg) n.1600A>C c.2635A>C (p.Ser879Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468438T= | CA1151518357 | PLEKHG5 | c.2398A= (p.Ser800=) c.2572A= (p.Ser858=) c.2509A= (p.Ser837=) n.2874A= c.2605A= (p.Ser869=) c.2695A= (p.Ser899=) c.*2610A= (n.*2610A=) c.2250-545A= (n.2250-545A=) c.*2226A= (n.*2226A=) c.271A= (p.Ser91=) c.2481-545A= (n.2481-545A=) c.2629A= (p.Ser877=) c.2566A= (p.Ser856=) n.1600A= c.2635A= (p.Ser879=) | |
1 | g.6468439G>A | CA561168 | PLEKHG5 | c.2397C>T (p.Thr799=) c.2571C>T (p.Thr857=) c.2508C>T (p.Thr836=) n.2873C>T c.2604C>T (p.Thr868=) c.2694C>T (p.Thr898=) c.*2609C>T (n.*2609C>T) c.2250-546C>T (n.2250-546C>T) c.*2225C>T (n.*2225C>T) c.270C>T (p.Thr90=) c.2481-546C>T (n.2481-546C>T) c.2628C>T (p.Thr876=) c.2565C>T (p.Thr855=) n.1599C>T c.2634C>T (p.Thr878=) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.6468439G>C | CA416022106 | PLEKHG5 | c.2397C>G (p.Thr799=) c.2571C>G (p.Thr857=) c.2508C>G (p.Thr836=) n.2873C>G c.2604C>G (p.Thr868=) c.2694C>G (p.Thr898=) c.*2609C>G (n.*2609C>G) c.2250-546C>G (n.2250-546C>G) c.*2225C>G (n.*2225C>G) c.270C>G (p.Thr90=) c.2481-546C>G (n.2481-546C>G) c.2628C>G (p.Thr876=) c.2565C>G (p.Thr855=) n.1599C>G c.2634C>G (p.Thr878=) | |
1 | g.6468439G= | CA1151518366 | PLEKHG5 | c.2397C= (p.Thr799=) c.2571C= (p.Thr857=) c.2508C= (p.Thr836=) n.2873C= c.2604C= (p.Thr868=) c.2694C= (p.Thr898=) c.*2609C= (n.*2609C=) c.2250-546C= (n.2250-546C=) c.*2225C= (n.*2225C=) c.270C= (p.Thr90=) c.2481-546C= (n.2481-546C=) c.2628C= (p.Thr876=) c.2565C= (p.Thr855=) n.1599C= c.2634C= (p.Thr878=) | |
1 | g.6468439G>T | CA416022107 | PLEKHG5 | c.2397C>A (p.Thr799=) c.2571C>A (p.Thr857=) c.2508C>A (p.Thr836=) n.2873C>A c.2604C>A (p.Thr868=) c.2694C>A (p.Thr898=) c.*2609C>A (n.*2609C>A) c.2250-546C>A (n.2250-546C>A) c.*2225C>A (n.*2225C>A) c.270C>A (p.Thr90=) c.2481-546C>A (n.2481-546C>A) c.2628C>A (p.Thr876=) c.2565C>A (p.Thr855=) n.1599C>A c.2634C>A (p.Thr878=) | |
1 | g.6468440G>A | CA338117225 | PLEKHG5 | c.2396C>T (p.Thr799Ile) c.2570C>T (p.Thr857Ile) c.2507C>T (p.Thr836Ile) n.2872C>T c.2603C>T (p.Thr868Ile) c.2693C>T (p.Thr898Ile) c.*2608C>T (n.*2608C>T) c.2250-547C>T (n.2250-547C>T) c.*2224C>T (n.*2224C>T) c.269C>T (p.Thr90Ile) c.2481-547C>T (n.2481-547C>T) c.2627C>T (p.Thr876Ile) c.2564C>T (p.Thr855Ile) n.1598C>T c.2633C>T (p.Thr878Ile) | dbSNP gnomAD v2 |
1 | g.6468440G>C | CA338117227 | PLEKHG5 | c.2396C>G (p.Thr799Ser) c.2570C>G (p.Thr857Ser) c.2507C>G (p.Thr836Ser) n.2872C>G c.2603C>G (p.Thr868Ser) c.2693C>G (p.Thr898Ser) c.*2608C>G (n.*2608C>G) c.2250-547C>G (n.2250-547C>G) c.*2224C>G (n.*2224C>G) c.269C>G (p.Thr90Ser) c.2481-547C>G (n.2481-547C>G) c.2627C>G (p.Thr876Ser) c.2564C>G (p.Thr855Ser) n.1598C>G c.2633C>G (p.Thr878Ser) | dbSNP |
1 | g.6468440G= | CA1151518379 | PLEKHG5 | c.2396C= (p.Thr799=) c.2570C= (p.Thr857=) c.2507C= (p.Thr836=) n.2872C= c.2603C= (p.Thr868=) c.2693C= (p.Thr898=) c.*2608C= (n.*2608C=) c.2250-547C= (n.2250-547C=) c.*2224C= (n.*2224C=) c.269C= (p.Thr90=) c.2481-547C= (n.2481-547C=) c.2627C= (p.Thr876=) c.2564C= (p.Thr855=) n.1598C= c.2633C= (p.Thr878=) | |
1 | g.6468440G>T | CA338117229 | PLEKHG5 | c.2396C>A (p.Thr799Asn) c.2570C>A (p.Thr857Asn) c.2507C>A (p.Thr836Asn) n.2872C>A c.2603C>A (p.Thr868Asn) c.2693C>A (p.Thr898Asn) c.*2608C>A (n.*2608C>A) c.2250-547C>A (n.2250-547C>A) c.*2224C>A (n.*2224C>A) c.269C>A (p.Thr90Asn) c.2481-547C>A (n.2481-547C>A) c.2627C>A (p.Thr876Asn) c.2564C>A (p.Thr855Asn) n.1598C>A c.2633C>A (p.Thr878Asn) | |
1 | g.6468441T>A | CA338117232 | PLEKHG5 | c.2395A>T (p.Thr799Ser) c.2569A>T (p.Thr857Ser) c.2506A>T (p.Thr836Ser) n.2871A>T c.2602A>T (p.Thr868Ser) c.2692A>T (p.Thr898Ser) c.*2607A>T (n.*2607A>T) c.2250-548A>T (n.2250-548A>T) c.*2223A>T (n.*2223A>T) c.268A>T (p.Thr90Ser) c.2481-548A>T (n.2481-548A>T) c.2626A>T (p.Thr876Ser) c.2563A>T (p.Thr855Ser) n.1597A>T c.2632A>T (p.Thr878Ser) | |
1 | g.6468441T>C | CA338117234 | PLEKHG5 | c.2395A>G (p.Thr799Ala) c.2569A>G (p.Thr857Ala) c.2506A>G (p.Thr836Ala) n.2871A>G c.2602A>G (p.Thr868Ala) c.2692A>G (p.Thr898Ala) c.*2607A>G (n.*2607A>G) c.2250-548A>G (n.2250-548A>G) c.*2223A>G (n.*2223A>G) c.268A>G (p.Thr90Ala) c.2481-548A>G (n.2481-548A>G) c.2626A>G (p.Thr876Ala) c.2563A>G (p.Thr855Ala) n.1597A>G c.2632A>G (p.Thr878Ala) | |
1 | g.6468441T>G | CA338117236 | PLEKHG5 | c.2395A>C (p.Thr799Pro) c.2569A>C (p.Thr857Pro) c.2506A>C (p.Thr836Pro) n.2871A>C c.2602A>C (p.Thr868Pro) c.2692A>C (p.Thr898Pro) c.*2607A>C (n.*2607A>C) c.2250-548A>C (n.2250-548A>C) c.*2223A>C (n.*2223A>C) c.268A>C (p.Thr90Pro) c.2481-548A>C (n.2481-548A>C) c.2626A>C (p.Thr876Pro) c.2563A>C (p.Thr855Pro) n.1597A>C c.2632A>C (p.Thr878Pro) | dbSNP gnomAD v4 |
1 | g.6468441T= | CA1151518388 | PLEKHG5 | c.2395A= (p.Thr799=) c.2569A= (p.Thr857=) c.2506A= (p.Thr836=) n.2871A= c.2602A= (p.Thr868=) c.2692A= (p.Thr898=) c.*2607A= (n.*2607A=) c.2250-548A= (n.2250-548A=) c.*2223A= (n.*2223A=) c.268A= (p.Thr90=) c.2481-548A= (n.2481-548A=) c.2626A= (p.Thr876=) c.2563A= (p.Thr855=) n.1597A= c.2632A= (p.Thr878=) | |
1 | g.6468442G>A | CA416022108 | PLEKHG5 | c.2394C>T (p.Pro798=) c.2568C>T (p.Pro856=) c.2505C>T (p.Pro835=) n.2870C>T c.2601C>T (p.Pro867=) c.2691C>T (p.Pro897=) c.*2606C>T (n.*2606C>T) c.2250-549C>T (n.2250-549C>T) c.*2222C>T (n.*2222C>T) c.267C>T (p.Pro89=) c.2481-549C>T (n.2481-549C>T) c.2625C>T (p.Pro875=) c.2562C>T (p.Pro854=) n.1596C>T c.2631C>T (p.Pro877=) | |
1 | g.6468442G>C | CA416022110 | PLEKHG5 | c.2394C>G (p.Pro798=) c.2568C>G (p.Pro856=) c.2505C>G (p.Pro835=) n.2870C>G c.2601C>G (p.Pro867=) c.2691C>G (p.Pro897=) c.*2606C>G (n.*2606C>G) c.2250-549C>G (n.2250-549C>G) c.*2222C>G (n.*2222C>G) c.267C>G (p.Pro89=) c.2481-549C>G (n.2481-549C>G) c.2625C>G (p.Pro875=) c.2562C>G (p.Pro854=) n.1596C>G c.2631C>G (p.Pro877=) | gnomAD v4 |
1 | g.6468442G>T | CA416022109 | PLEKHG5 | c.2394C>A (p.Pro798=) c.2568C>A (p.Pro856=) c.2505C>A (p.Pro835=) n.2870C>A c.2601C>A (p.Pro867=) c.2691C>A (p.Pro897=) c.*2606C>A (n.*2606C>A) c.2250-549C>A (n.2250-549C>A) c.*2222C>A (n.*2222C>A) c.267C>A (p.Pro89=) c.2481-549C>A (n.2481-549C>A) c.2625C>A (p.Pro875=) c.2562C>A (p.Pro854=) n.1596C>A c.2631C>A (p.Pro877=) | |
1 | g.6468443G>A | CA338117244 | PLEKHG5 | c.2393C>T (p.Pro798Leu) c.2567C>T (p.Pro856Leu) c.2504C>T (p.Pro835Leu) n.2869C>T c.2600C>T (p.Pro867Leu) c.2690C>T (p.Pro897Leu) c.*2605C>T (n.*2605C>T) c.2250-550C>T (n.2250-550C>T) c.*2221C>T (n.*2221C>T) c.266C>T (p.Pro89Leu) c.2481-550C>T (n.2481-550C>T) c.2624C>T (p.Pro875Leu) c.2561C>T (p.Pro854Leu) n.1595C>T c.2630C>T (p.Pro877Leu) | |
1 | g.6468443G>C | CA338117242 | PLEKHG5 | c.2393C>G (p.Pro798Arg) c.2567C>G (p.Pro856Arg) c.2504C>G (p.Pro835Arg) n.2869C>G c.2600C>G (p.Pro867Arg) c.2690C>G (p.Pro897Arg) c.*2605C>G (n.*2605C>G) c.2250-550C>G (n.2250-550C>G) c.*2221C>G (n.*2221C>G) c.266C>G (p.Pro89Arg) c.2481-550C>G (n.2481-550C>G) c.2624C>G (p.Pro875Arg) c.2561C>G (p.Pro854Arg) n.1595C>G c.2630C>G (p.Pro877Arg) | gnomAD v4 |
1 | g.6468443G>T | CA338117240 | PLEKHG5 | c.2393C>A (p.Pro798His) c.2567C>A (p.Pro856His) c.2504C>A (p.Pro835His) n.2869C>A c.2600C>A (p.Pro867His) c.2690C>A (p.Pro897His) c.*2605C>A (n.*2605C>A) c.2250-550C>A (n.2250-550C>A) c.*2221C>A (n.*2221C>A) c.266C>A (p.Pro89His) c.2481-550C>A (n.2481-550C>A) c.2624C>A (p.Pro875His) c.2561C>A (p.Pro854His) n.1595C>A c.2630C>A (p.Pro877His) | |
1 | g.6468444G>A | CA338117247 | PLEKHG5 | c.2392C>T (p.Pro798Ser) c.2566C>T (p.Pro856Ser) c.2503C>T (p.Pro835Ser) n.2868C>T c.2599C>T (p.Pro867Ser) c.2689C>T (p.Pro897Ser) c.*2604C>T (n.*2604C>T) c.2250-551C>T (n.2250-551C>T) c.*2220C>T (n.*2220C>T) c.265C>T (p.Pro89Ser) c.2481-551C>T (n.2481-551C>T) c.2623C>T (p.Pro875Ser) c.2560C>T (p.Pro854Ser) n.1594C>T c.2629C>T (p.Pro877Ser) | dbSNP gnomAD v4 |
1 | g.6468444G>C | CA338117249 | PLEKHG5 | c.2392C>G (p.Pro798Ala) c.2566C>G (p.Pro856Ala) c.2503C>G (p.Pro835Ala) n.2868C>G c.2599C>G (p.Pro867Ala) c.2689C>G (p.Pro897Ala) c.*2604C>G (n.*2604C>G) c.2250-551C>G (n.2250-551C>G) c.*2220C>G (n.*2220C>G) c.265C>G (p.Pro89Ala) c.2481-551C>G (n.2481-551C>G) c.2623C>G (p.Pro875Ala) c.2560C>G (p.Pro854Ala) n.1594C>G c.2629C>G (p.Pro877Ala) | |
1 | g.6468444G= | CA1151518406 | PLEKHG5 | c.2392C= (p.Pro798=) c.2566C= (p.Pro856=) c.2503C= (p.Pro835=) n.2868C= c.2599C= (p.Pro867=) c.2689C= (p.Pro897=) c.*2604C= (n.*2604C=) c.2250-551C= (n.2250-551C=) c.*2220C= (n.*2220C=) c.265C= (p.Pro89=) c.2481-551C= (n.2481-551C=) c.2623C= (p.Pro875=) c.2560C= (p.Pro854=) n.1594C= c.2629C= (p.Pro877=) | |
1 | g.6468444G>T | CA338117251 | PLEKHG5 | c.2392C>A (p.Pro798Thr) c.2566C>A (p.Pro856Thr) c.2503C>A (p.Pro835Thr) n.2868C>A c.2599C>A (p.Pro867Thr) c.2689C>A (p.Pro897Thr) c.*2604C>A (n.*2604C>A) c.2250-551C>A (n.2250-551C>A) c.*2220C>A (n.*2220C>A) c.265C>A (p.Pro89Thr) c.2481-551C>A (n.2481-551C>A) c.2623C>A (p.Pro875Thr) c.2560C>A (p.Pro854Thr) n.1594C>A c.2629C>A (p.Pro877Thr) | |
1 | g.6468445C>A | CA416022111 | PLEKHG5 | c.2391G>T (p.Thr797=) c.2565G>T (p.Thr855=) c.2502G>T (p.Thr834=) n.2867G>T c.2598G>T (p.Thr866=) c.2688G>T (p.Thr896=) c.*2603G>T (n.*2603G>T) c.2250-552G>T (n.2250-552G>T) c.*2219G>T (n.*2219G>T) c.264G>T (p.Thr88=) c.2481-552G>T (n.2481-552G>T) c.2622G>T (p.Thr874=) c.2559G>T (p.Thr853=) n.1593G>T c.2628G>T (p.Thr876=) | |
1 | g.6468445C= | CA1151518413 | PLEKHG5 | c.2391G= (p.Thr797=) c.2565G= (p.Thr855=) c.2502G= (p.Thr834=) n.2867G= c.2598G= (p.Thr866=) c.2688G= (p.Thr896=) c.*2603G= (n.*2603G=) c.2250-552G= (n.2250-552G=) c.*2219G= (n.*2219G=) c.264G= (p.Thr88=) c.2481-552G= (n.2481-552G=) c.2622G= (p.Thr874=) c.2559G= (p.Thr853=) n.1593G= c.2628G= (p.Thr876=) | |
1 | g.6468445C>G | CA416022112 | PLEKHG5 | c.2391G>C (p.Thr797=) c.2565G>C (p.Thr855=) c.2502G>C (p.Thr834=) n.2867G>C c.2598G>C (p.Thr866=) c.2688G>C (p.Thr896=) c.*2603G>C (n.*2603G>C) c.2250-552G>C (n.2250-552G>C) c.*2219G>C (n.*2219G>C) c.264G>C (p.Thr88=) c.2481-552G>C (n.2481-552G>C) c.2622G>C (p.Thr874=) c.2559G>C (p.Thr853=) n.1593G>C c.2628G>C (p.Thr876=) | |
1 | g.6468445C>T | CA416022113 | PLEKHG5 | c.2391G>A (p.Thr797=) c.2565G>A (p.Thr855=) c.2502G>A (p.Thr834=) n.2867G>A c.2598G>A (p.Thr866=) c.2688G>A (p.Thr896=) c.*2603G>A (n.*2603G>A) c.2250-552G>A (n.2250-552G>A) c.*2219G>A (n.*2219G>A) c.264G>A (p.Thr88=) c.2481-552G>A (n.2481-552G>A) c.2622G>A (p.Thr874=) c.2559G>A (p.Thr853=) n.1593G>A c.2628G>A (p.Thr876=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.6468446G>A | CA561169 | PLEKHG5 | c.2390C>T (p.Thr797Met) c.2564C>T (p.Thr855Met) c.2501C>T (p.Thr834Met) n.2866C>T c.2597C>T (p.Thr866Met) c.2687C>T (p.Thr896Met) c.*2602C>T (n.*2602C>T) c.2250-553C>T (n.2250-553C>T) c.*2218C>T (n.*2218C>T) c.263C>T (p.Thr88Met) c.2481-553C>T (n.2481-553C>T) c.2621C>T (p.Thr874Met) c.2558C>T (p.Thr853Met) n.1592C>T c.2627C>T (p.Thr876Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468446G>C | CA338117256 | PLEKHG5 | c.2390C>G (p.Thr797Arg) c.2564C>G (p.Thr855Arg) c.2501C>G (p.Thr834Arg) n.2866C>G c.2597C>G (p.Thr866Arg) c.2687C>G (p.Thr896Arg) c.*2602C>G (n.*2602C>G) c.2250-553C>G (n.2250-553C>G) c.*2218C>G (n.*2218C>G) c.263C>G (p.Thr88Arg) c.2481-553C>G (n.2481-553C>G) c.2621C>G (p.Thr874Arg) c.2558C>G (p.Thr853Arg) n.1592C>G c.2627C>G (p.Thr876Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6468446G= | CA1141222144 | PLEKHG5 | c.2390C= (p.Thr797=) c.2564C= (p.Thr855=) c.2501C= (p.Thr834=) n.2866C= c.2597C= (p.Thr866=) c.2687C= (p.Thr896=) c.*2602C= (n.*2602C=) c.2250-553C= (n.2250-553C=) c.*2218C= (n.*2218C=) c.263C= (p.Thr88=) c.2481-553C= (n.2481-553C=) c.2621C= (p.Thr874=) c.2558C= (p.Thr853=) n.1592C= c.2627C= (p.Thr876=) | |
1 | g.6468446G>T | CA338117258 | PLEKHG5 | c.2390C>A (p.Thr797Lys) c.2564C>A (p.Thr855Lys) c.2501C>A (p.Thr834Lys) n.2866C>A c.2597C>A (p.Thr866Lys) c.2687C>A (p.Thr896Lys) c.*2602C>A (n.*2602C>A) c.2250-553C>A (n.2250-553C>A) c.*2218C>A (n.*2218C>A) c.263C>A (p.Thr88Lys) c.2481-553C>A (n.2481-553C>A) c.2621C>A (p.Thr874Lys) c.2558C>A (p.Thr853Lys) n.1592C>A c.2627C>A (p.Thr876Lys) | |
1 | g.6468447T>A | CA338117261 | PLEKHG5 | c.2389A>T (p.Thr797Ser) c.2563A>T (p.Thr855Ser) c.2500A>T (p.Thr834Ser) n.2865A>T c.2596A>T (p.Thr866Ser) c.2686A>T (p.Thr896Ser) c.*2601A>T (n.*2601A>T) c.2250-554A>T (n.2250-554A>T) c.*2217A>T (n.*2217A>T) c.262A>T (p.Thr88Ser) c.2481-554A>T (n.2481-554A>T) c.2620A>T (p.Thr874Ser) c.2557A>T (p.Thr853Ser) n.1591A>T c.2626A>T (p.Thr876Ser) | |
1 | g.6468447T>C | CA338117262 | PLEKHG5 | c.2389A>G (p.Thr797Ala) c.2563A>G (p.Thr855Ala) c.2500A>G (p.Thr834Ala) n.2865A>G c.2596A>G (p.Thr866Ala) c.2686A>G (p.Thr896Ala) c.*2601A>G (n.*2601A>G) c.2250-554A>G (n.2250-554A>G) c.*2217A>G (n.*2217A>G) c.262A>G (p.Thr88Ala) c.2481-554A>G (n.2481-554A>G) c.2620A>G (p.Thr874Ala) c.2557A>G (p.Thr853Ala) n.1591A>G c.2626A>G (p.Thr876Ala) | |
1 | g.6468447T>G | CA338117263 | PLEKHG5 | c.2389A>C (p.Thr797Pro) c.2563A>C (p.Thr855Pro) c.2500A>C (p.Thr834Pro) n.2865A>C c.2596A>C (p.Thr866Pro) c.2686A>C (p.Thr896Pro) c.*2601A>C (n.*2601A>C) c.2250-554A>C (n.2250-554A>C) c.*2217A>C (n.*2217A>C) c.262A>C (p.Thr88Pro) c.2481-554A>C (n.2481-554A>C) c.2620A>C (p.Thr874Pro) c.2557A>C (p.Thr853Pro) n.1591A>C c.2626A>C (p.Thr876Pro) | dbSNP |
1 | g.6468447T= | CA1151518434 | PLEKHG5 | c.2389A= (p.Thr797=) c.2563A= (p.Thr855=) c.2500A= (p.Thr834=) n.2865A= c.2596A= (p.Thr866=) c.2686A= (p.Thr896=) c.*2601A= (n.*2601A=) c.2250-554A= (n.2250-554A=) c.*2217A= (n.*2217A=) c.262A= (p.Thr88=) c.2481-554A= (n.2481-554A=) c.2620A= (p.Thr874=) c.2557A= (p.Thr853=) n.1591A= c.2626A= (p.Thr876=) | |
1 | g.6468448G>A | CA416022114 | PLEKHG5 | c.2388C>T (p.Ala796=) c.2562C>T (p.Ala854=) c.2499C>T (p.Ala833=) n.2864C>T c.2595C>T (p.Ala865=) c.2685C>T (p.Ala895=) c.*2600C>T (n.*2600C>T) c.2250-555C>T (n.2250-555C>T) c.*2216C>T (n.*2216C>T) c.261C>T (p.Ala87=) c.2481-555C>T (n.2481-555C>T) c.2619C>T (p.Ala873=) c.2556C>T (p.Ala852=) n.1590C>T c.2625C>T (p.Ala875=) | |
1 | g.6468448G>C | CA416022115 | PLEKHG5 | c.2388C>G (p.Ala796=) c.2562C>G (p.Ala854=) c.2499C>G (p.Ala833=) n.2864C>G c.2595C>G (p.Ala865=) c.2685C>G (p.Ala895=) c.*2600C>G (n.*2600C>G) c.2250-555C>G (n.2250-555C>G) c.*2216C>G (n.*2216C>G) c.261C>G (p.Ala87=) c.2481-555C>G (n.2481-555C>G) c.2619C>G (p.Ala873=) c.2556C>G (p.Ala852=) n.1590C>G c.2625C>G (p.Ala875=) | |
1 | g.6468448G>T | CA416022116 | PLEKHG5 | c.2388C>A (p.Ala796=) c.2562C>A (p.Ala854=) c.2499C>A (p.Ala833=) n.2864C>A c.2595C>A (p.Ala865=) c.2685C>A (p.Ala895=) c.*2600C>A (n.*2600C>A) c.2250-555C>A (n.2250-555C>A) c.*2216C>A (n.*2216C>A) c.261C>A (p.Ala87=) c.2481-555C>A (n.2481-555C>A) c.2619C>A (p.Ala873=) c.2556C>A (p.Ala852=) n.1590C>A c.2625C>A (p.Ala875=) | gnomAD v4 |
1 | g.6468449G>A | CA338117264 | PLEKHG5 | c.2387C>T (p.Ala796Val) c.2561C>T (p.Ala854Val) c.2498C>T (p.Ala833Val) n.2863C>T c.2594C>T (p.Ala865Val) c.2684C>T (p.Ala895Val) c.*2599C>T (n.*2599C>T) c.2250-556C>T (n.2250-556C>T) c.*2215C>T (n.*2215C>T) c.260C>T (p.Ala87Val) c.2481-556C>T (n.2481-556C>T) c.2618C>T (p.Ala873Val) c.2555C>T (p.Ala852Val) n.1589C>T c.2624C>T (p.Ala875Val) | gnomAD v4 |
1 | g.6468449G>C | CA338117265 | PLEKHG5 | c.2387C>G (p.Ala796Gly) c.2561C>G (p.Ala854Gly) c.2498C>G (p.Ala833Gly) n.2863C>G c.2594C>G (p.Ala865Gly) c.2684C>G (p.Ala895Gly) c.*2599C>G (n.*2599C>G) c.2250-556C>G (n.2250-556C>G) c.*2215C>G (n.*2215C>G) c.260C>G (p.Ala87Gly) c.2481-556C>G (n.2481-556C>G) c.2618C>G (p.Ala873Gly) c.2555C>G (p.Ala852Gly) n.1589C>G c.2624C>G (p.Ala875Gly) | |
1 | g.6468449G>T | CA338117268 | PLEKHG5 | c.2387C>A (p.Ala796Asp) c.2561C>A (p.Ala854Asp) c.2498C>A (p.Ala833Asp) n.2863C>A c.2594C>A (p.Ala865Asp) c.2684C>A (p.Ala895Asp) c.*2599C>A (n.*2599C>A) c.2250-556C>A (n.2250-556C>A) c.*2215C>A (n.*2215C>A) c.260C>A (p.Ala87Asp) c.2481-556C>A (n.2481-556C>A) c.2618C>A (p.Ala873Asp) c.2555C>A (p.Ala852Asp) n.1589C>A c.2624C>A (p.Ala875Asp) | |
1 | g.6468450C>A | CA338117274 | PLEKHG5 | c.2386G>T (p.Ala796Ser) c.2560G>T (p.Ala854Ser) c.2497G>T (p.Ala833Ser) n.2862G>T c.2593G>T (p.Ala865Ser) c.2683G>T (p.Ala895Ser) c.*2598G>T (n.*2598G>T) c.2250-557G>T (n.2250-557G>T) c.*2214G>T (n.*2214G>T) c.259G>T (p.Ala87Ser) c.2481-557G>T (n.2481-557G>T) c.2617G>T (p.Ala873Ser) c.2554G>T (p.Ala852Ser) n.1588G>T c.2623G>T (p.Ala875Ser) | |
1 | g.6468450C= | CA1145423295 | PLEKHG5 | c.2386G= (p.Ala796=) c.2560G= (p.Ala854=) c.2497G= (p.Ala833=) n.2862G= c.2593G= (p.Ala865=) c.2683G= (p.Ala895=) c.*2598G= (n.*2598G=) c.2250-557G= (n.2250-557G=) c.*2214G= (n.*2214G=) c.259G= (p.Ala87=) c.2481-557G= (n.2481-557G=) c.2617G= (p.Ala873=) c.2554G= (p.Ala852=) n.1588G= c.2623G= (p.Ala875=) | |
1 | g.6468450C>G | CA561170 | PLEKHG5 | c.2386G>C (p.Ala796Pro) c.2560G>C (p.Ala854Pro) c.2497G>C (p.Ala833Pro) n.2862G>C c.2593G>C (p.Ala865Pro) c.2683G>C (p.Ala895Pro) c.*2598G>C (n.*2598G>C) c.2250-557G>C (n.2250-557G>C) c.*2214G>C (n.*2214G>C) c.259G>C (p.Ala87Pro) c.2481-557G>C (n.2481-557G>C) c.2617G>C (p.Ala873Pro) c.2554G>C (p.Ala852Pro) n.1588G>C c.2623G>C (p.Ala875Pro) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468450C>T | CA338117272 | PLEKHG5 | c.2386G>A (p.Ala796Thr) c.2560G>A (p.Ala854Thr) c.2497G>A (p.Ala833Thr) n.2862G>A c.2593G>A (p.Ala865Thr) c.2683G>A (p.Ala895Thr) c.*2598G>A (n.*2598G>A) c.2250-557G>A (n.2250-557G>A) c.*2214G>A (n.*2214G>A) c.259G>A (p.Ala87Thr) c.2481-557G>A (n.2481-557G>A) c.2617G>A (p.Ala873Thr) c.2554G>A (p.Ala852Thr) n.1588G>A c.2623G>A (p.Ala875Thr) | |
1 | g.6468451A>C | CA416022119 | PLEKHG5 | c.2385T>G (p.Ser795=) c.2559T>G (p.Ser853=) c.2496T>G (p.Ser832=) n.2861T>G c.2592T>G (p.Ser864=) c.2682T>G (p.Ser894=) c.*2597T>G (n.*2597T>G) c.2250-558T>G (n.2250-558T>G) c.*2213T>G (n.*2213T>G) c.258T>G (p.Ser86=) c.2481-558T>G (n.2481-558T>G) c.2616T>G (p.Ser872=) c.2553T>G (p.Ser851=) n.1587T>G c.2622T>G (p.Ser874=) | |
1 | g.6468451A>G | CA416022117 | PLEKHG5 | c.2385T>C (p.Ser795=) c.2559T>C (p.Ser853=) c.2496T>C (p.Ser832=) n.2861T>C c.2592T>C (p.Ser864=) c.2682T>C (p.Ser894=) c.*2597T>C (n.*2597T>C) c.2250-558T>C (n.2250-558T>C) c.*2213T>C (n.*2213T>C) c.258T>C (p.Ser86=) c.2481-558T>C (n.2481-558T>C) c.2616T>C (p.Ser872=) c.2553T>C (p.Ser851=) n.1587T>C c.2622T>C (p.Ser874=) | |
1 | g.6468451A>T | CA416022118 | PLEKHG5 | c.2385T>A (p.Ser795=) c.2559T>A (p.Ser853=) c.2496T>A (p.Ser832=) n.2861T>A c.2592T>A (p.Ser864=) c.2682T>A (p.Ser894=) c.*2597T>A (n.*2597T>A) c.2250-558T>A (n.2250-558T>A) c.*2213T>A (n.*2213T>A) c.258T>A (p.Ser86=) c.2481-558T>A (n.2481-558T>A) c.2616T>A (p.Ser872=) c.2553T>A (p.Ser851=) n.1587T>A c.2622T>A (p.Ser874=) | |
1 | g.6468452G>A | CA338117280 | PLEKHG5 | c.2384C>T (p.Ser795Phe) c.2558C>T (p.Ser853Phe) c.2495C>T (p.Ser832Phe) n.2860C>T c.2591C>T (p.Ser864Phe) c.2681C>T (p.Ser894Phe) c.*2596C>T (n.*2596C>T) c.2250-559C>T (n.2250-559C>T) c.*2212C>T (n.*2212C>T) c.257C>T (p.Ser86Phe) c.2481-559C>T (n.2481-559C>T) c.2615C>T (p.Ser872Phe) c.2552C>T (p.Ser851Phe) n.1586C>T c.2621C>T (p.Ser874Phe) | gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6468452G>C | CA338117282 | PLEKHG5 | c.2384C>G (p.Ser795Cys) c.2558C>G (p.Ser853Cys) c.2495C>G (p.Ser832Cys) n.2860C>G c.2591C>G (p.Ser864Cys) c.2681C>G (p.Ser894Cys) c.*2596C>G (n.*2596C>G) c.2250-559C>G (n.2250-559C>G) c.*2212C>G (n.*2212C>G) c.257C>G (p.Ser86Cys) c.2481-559C>G (n.2481-559C>G) c.2615C>G (p.Ser872Cys) c.2552C>G (p.Ser851Cys) n.1586C>G c.2621C>G (p.Ser874Cys) | |
1 | g.6468452G>T | CA338117286 | PLEKHG5 | c.2384C>A (p.Ser795Tyr) c.2558C>A (p.Ser853Tyr) c.2495C>A (p.Ser832Tyr) n.2860C>A c.2591C>A (p.Ser864Tyr) c.2681C>A (p.Ser894Tyr) c.*2596C>A (n.*2596C>A) c.2250-559C>A (n.2250-559C>A) c.*2212C>A (n.*2212C>A) c.257C>A (p.Ser86Tyr) c.2481-559C>A (n.2481-559C>A) c.2615C>A (p.Ser872Tyr) c.2552C>A (p.Ser851Tyr) n.1586C>A c.2621C>A (p.Ser874Tyr) | |
1 | g.6468453A>C | CA338117288 | PLEKHG5 | c.2383T>G (p.Ser795Ala) c.2557T>G (p.Ser853Ala) c.2494T>G (p.Ser832Ala) n.2859T>G c.2590T>G (p.Ser864Ala) c.2680T>G (p.Ser894Ala) c.*2595T>G (n.*2595T>G) c.2250-560T>G (n.2250-560T>G) c.*2211T>G (n.*2211T>G) c.256T>G (p.Ser86Ala) c.2481-560T>G (n.2481-560T>G) c.2614T>G (p.Ser872Ala) c.2551T>G (p.Ser851Ala) n.1585T>G c.2620T>G (p.Ser874Ala) | |
1 | g.6468453A>G | CA338117289 | PLEKHG5 | c.2383T>C (p.Ser795Pro) c.2557T>C (p.Ser853Pro) c.2494T>C (p.Ser832Pro) n.2859T>C c.2590T>C (p.Ser864Pro) c.2680T>C (p.Ser894Pro) c.*2595T>C (n.*2595T>C) c.2250-560T>C (n.2250-560T>C) c.*2211T>C (n.*2211T>C) c.256T>C (p.Ser86Pro) c.2481-560T>C (n.2481-560T>C) c.2614T>C (p.Ser872Pro) c.2551T>C (p.Ser851Pro) n.1585T>C c.2620T>C (p.Ser874Pro) | |
1 | g.6468453A>T | CA338117292 | PLEKHG5 | c.2383T>A (p.Ser795Thr) c.2557T>A (p.Ser853Thr) c.2494T>A (p.Ser832Thr) n.2859T>A c.2590T>A (p.Ser864Thr) c.2680T>A (p.Ser894Thr) c.*2595T>A (n.*2595T>A) c.2250-560T>A (n.2250-560T>A) c.*2211T>A (n.*2211T>A) c.256T>A (p.Ser86Thr) c.2481-560T>A (n.2481-560T>A) c.2614T>A (p.Ser872Thr) c.2551T>A (p.Ser851Thr) n.1585T>A c.2620T>A (p.Ser874Thr) | |
1 | g.6468454T>A | CA416022120 | PLEKHG5 | c.2382A>T (p.Ser794=) c.2556A>T (p.Ser852=) c.2493A>T (p.Ser831=) n.2858A>T c.2589A>T (p.Ser863=) c.2679A>T (p.Ser893=) c.*2594A>T (n.*2594A>T) c.2250-561A>T (n.2250-561A>T) c.*2210A>T (n.*2210A>T) c.255A>T (p.Ser85=) c.2481-561A>T (n.2481-561A>T) c.2613A>T (p.Ser871=) c.2550A>T (p.Ser850=) n.1584A>T c.2619A>T (p.Ser873=) | |
1 | g.6468454T>C | CA416022121 | PLEKHG5 | c.2382A>G (p.Ser794=) c.2556A>G (p.Ser852=) c.2493A>G (p.Ser831=) n.2858A>G c.2589A>G (p.Ser863=) c.2679A>G (p.Ser893=) c.*2594A>G (n.*2594A>G) c.2250-561A>G (n.2250-561A>G) c.*2210A>G (n.*2210A>G) c.255A>G (p.Ser85=) c.2481-561A>G (n.2481-561A>G) c.2613A>G (p.Ser871=) c.2550A>G (p.Ser850=) n.1584A>G c.2619A>G (p.Ser873=) | |
1 | g.6468454T>G | CA416022122 | PLEKHG5 | c.2382A>C (p.Ser794=) c.2556A>C (p.Ser852=) c.2493A>C (p.Ser831=) n.2858A>C c.2589A>C (p.Ser863=) c.2679A>C (p.Ser893=) c.*2594A>C (n.*2594A>C) c.2250-561A>C (n.2250-561A>C) c.*2210A>C (n.*2210A>C) c.255A>C (p.Ser85=) c.2481-561A>C (n.2481-561A>C) c.2613A>C (p.Ser871=) c.2550A>C (p.Ser850=) n.1584A>C c.2619A>C (p.Ser873=) | |
1 | g.6468455G>A | CA338117296 | PLEKHG5 | c.2381C>T (p.Ser794Leu) c.2555C>T (p.Ser852Leu) c.2492C>T (p.Ser831Leu) n.2857C>T c.2588C>T (p.Ser863Leu) c.2678C>T (p.Ser893Leu) c.*2593C>T (n.*2593C>T) c.2250-562C>T (n.2250-562C>T) c.*2209C>T (n.*2209C>T) c.254C>T (p.Ser85Leu) c.2481-562C>T (n.2481-562C>T) c.2612C>T (p.Ser871Leu) c.2549C>T (p.Ser850Leu) n.1583C>T c.2618C>T (p.Ser873Leu) | ClinVar dbSNP |
1 | g.6468455G>C | CA338117300 | PLEKHG5 | c.2381C>G (p.Ser794Ter) c.2555C>G (p.Ser852Ter) c.2492C>G (p.Ser831Ter) n.2857C>G c.2588C>G (p.Ser863Ter) c.2678C>G (p.Ser893Ter) c.*2593C>G (n.*2593C>G) c.2250-562C>G (n.2250-562C>G) c.*2209C>G (n.*2209C>G) c.254C>G (p.Ser85Ter) c.2481-562C>G (n.2481-562C>G) c.2612C>G (p.Ser871Ter) c.2549C>G (p.Ser850Ter) n.1583C>G c.2618C>G (p.Ser873Ter) | |
1 | g.6468455G>T | CA338117302 | PLEKHG5 | c.2381C>A (p.Ser794Ter) c.2555C>A (p.Ser852Ter) c.2492C>A (p.Ser831Ter) n.2857C>A c.2588C>A (p.Ser863Ter) c.2678C>A (p.Ser893Ter) c.*2593C>A (n.*2593C>A) c.2250-562C>A (n.2250-562C>A) c.*2209C>A (n.*2209C>A) c.254C>A (p.Ser85Ter) c.2481-562C>A (n.2481-562C>A) c.2612C>A (p.Ser871Ter) c.2549C>A (p.Ser850Ter) n.1583C>A c.2618C>A (p.Ser873Ter) | |
1 | g.6468456A= | CA1151518440 | PLEKHG5 | c.2380T= (p.Ser794=) c.2554T= (p.Ser852=) c.2491T= (p.Ser831=) n.2856T= c.2587T= (p.Ser863=) c.2677T= (p.Ser893=) c.*2592T= (n.*2592T=) c.2250-563T= (n.2250-563T=) c.*2208T= (n.*2208T=) c.253T= (p.Ser85=) c.2481-563T= (n.2481-563T=) c.2611T= (p.Ser871=) c.2548T= (p.Ser850=) n.1582T= c.2617T= (p.Ser873=) | |
1 | g.6468456A>C | CA338117306 | PLEKHG5 | c.2380T>G (p.Ser794Ala) c.2554T>G (p.Ser852Ala) c.2491T>G (p.Ser831Ala) n.2856T>G c.2587T>G (p.Ser863Ala) c.2677T>G (p.Ser893Ala) c.*2592T>G (n.*2592T>G) c.2250-563T>G (n.2250-563T>G) c.*2208T>G (n.*2208T>G) c.253T>G (p.Ser85Ala) c.2481-563T>G (n.2481-563T>G) c.2611T>G (p.Ser871Ala) c.2548T>G (p.Ser850Ala) n.1582T>G c.2617T>G (p.Ser873Ala) | |
1 | g.6468456A>G | CA338117309 | PLEKHG5 | c.2380T>C (p.Ser794Pro) c.2554T>C (p.Ser852Pro) c.2491T>C (p.Ser831Pro) n.2856T>C c.2587T>C (p.Ser863Pro) c.2677T>C (p.Ser893Pro) c.*2592T>C (n.*2592T>C) c.2250-563T>C (n.2250-563T>C) c.*2208T>C (n.*2208T>C) c.253T>C (p.Ser85Pro) c.2481-563T>C (n.2481-563T>C) c.2611T>C (p.Ser871Pro) c.2548T>C (p.Ser850Pro) n.1582T>C c.2617T>C (p.Ser873Pro) | dbSNP gnomAD v4 |
1 | g.6468456A>T | CA338117311 | PLEKHG5 | c.2380T>A (p.Ser794Thr) c.2554T>A (p.Ser852Thr) c.2491T>A (p.Ser831Thr) n.2856T>A c.2587T>A (p.Ser863Thr) c.2677T>A (p.Ser893Thr) c.*2592T>A (n.*2592T>A) c.2250-563T>A (n.2250-563T>A) c.*2208T>A (n.*2208T>A) c.253T>A (p.Ser85Thr) c.2481-563T>A (n.2481-563T>A) c.2611T>A (p.Ser871Thr) c.2548T>A (p.Ser850Thr) n.1582T>A c.2617T>A (p.Ser873Thr) | |
1 | g.6468457G>A | CA416022123 | PLEKHG5 | c.2379C>T (p.Ala793=) c.2553C>T (p.Ala851=) c.2490C>T (p.Ala830=) n.2855C>T c.2586C>T (p.Ala862=) c.2676C>T (p.Ala892=) c.*2591C>T (n.*2591C>T) c.2250-564C>T (n.2250-564C>T) c.*2207C>T (n.*2207C>T) c.252C>T (p.Ala84=) c.2481-564C>T (n.2481-564C>T) c.2610C>T (p.Ala870=) c.2547C>T (p.Ala849=) n.1581C>T c.2616C>T (p.Ala872=) | COSMIC COSMIC COSMIC |
1 | g.6468457G>C | CA416022125 | PLEKHG5 | c.2379C>G (p.Ala793=) c.2553C>G (p.Ala851=) c.2490C>G (p.Ala830=) n.2855C>G c.2586C>G (p.Ala862=) c.2676C>G (p.Ala892=) c.*2591C>G (n.*2591C>G) c.2250-564C>G (n.2250-564C>G) c.*2207C>G (n.*2207C>G) c.252C>G (p.Ala84=) c.2481-564C>G (n.2481-564C>G) c.2610C>G (p.Ala870=) c.2547C>G (p.Ala849=) n.1581C>G c.2616C>G (p.Ala872=) | |
1 | g.6468457G>T | CA416022124 | PLEKHG5 | c.2379C>A (p.Ala793=) c.2553C>A (p.Ala851=) c.2490C>A (p.Ala830=) n.2855C>A c.2586C>A (p.Ala862=) c.2676C>A (p.Ala892=) c.*2591C>A (n.*2591C>A) c.2250-564C>A (n.2250-564C>A) c.*2207C>A (n.*2207C>A) c.252C>A (p.Ala84=) c.2481-564C>A (n.2481-564C>A) c.2610C>A (p.Ala870=) c.2547C>A (p.Ala849=) n.1581C>A c.2616C>A (p.Ala872=) | |
1 | g.6468458G>A | CA338117320 | PLEKHG5 | c.2378C>T (p.Ala793Val) c.2552C>T (p.Ala851Val) c.2489C>T (p.Ala830Val) n.2854C>T c.2585C>T (p.Ala862Val) c.2675C>T (p.Ala892Val) c.*2590C>T (n.*2590C>T) c.2250-565C>T (n.2250-565C>T) c.*2206C>T (n.*2206C>T) c.251C>T (p.Ala84Val) c.2481-565C>T (n.2481-565C>T) c.2609C>T (p.Ala870Val) c.2546C>T (p.Ala849Val) n.1580C>T c.2615C>T (p.Ala872Val) | |
1 | g.6468458G>C | CA338117324 | PLEKHG5 | c.2378C>G (p.Ala793Gly) c.2552C>G (p.Ala851Gly) c.2489C>G (p.Ala830Gly) n.2854C>G c.2585C>G (p.Ala862Gly) c.2675C>G (p.Ala892Gly) c.*2590C>G (n.*2590C>G) c.2250-565C>G (n.2250-565C>G) c.*2206C>G (n.*2206C>G) c.251C>G (p.Ala84Gly) c.2481-565C>G (n.2481-565C>G) c.2609C>G (p.Ala870Gly) c.2546C>G (p.Ala849Gly) n.1580C>G c.2615C>G (p.Ala872Gly) | |
1 | g.6468458G= | CA1151518445 | PLEKHG5 | c.2378C= (p.Ala793=) c.2552C= (p.Ala851=) c.2489C= (p.Ala830=) n.2854C= c.2585C= (p.Ala862=) c.2675C= (p.Ala892=) c.*2590C= (n.*2590C=) c.2250-565C= (n.2250-565C=) c.*2206C= (n.*2206C=) c.251C= (p.Ala84=) c.2481-565C= (n.2481-565C=) c.2609C= (p.Ala870=) c.2546C= (p.Ala849=) n.1580C= c.2615C= (p.Ala872=) | |
1 | g.6468458G>T | CA338117318 | PLEKHG5 | c.2378C>A (p.Ala793Asp) c.2552C>A (p.Ala851Asp) c.2489C>A (p.Ala830Asp) n.2854C>A c.2585C>A (p.Ala862Asp) c.2675C>A (p.Ala892Asp) c.*2590C>A (n.*2590C>A) c.2250-565C>A (n.2250-565C>A) c.*2206C>A (n.*2206C>A) c.251C>A (p.Ala84Asp) c.2481-565C>A (n.2481-565C>A) c.2609C>A (p.Ala870Asp) c.2546C>A (p.Ala849Asp) n.1580C>A c.2615C>A (p.Ala872Asp) | |
1 | g.6468459C>A | CA338117336 | PLEKHG5 | c.2377G>T (p.Ala793Ser) c.2551G>T (p.Ala851Ser) c.2488G>T (p.Ala830Ser) n.2853G>T c.2584G>T (p.Ala862Ser) c.2674G>T (p.Ala892Ser) c.*2589G>T (n.*2589G>T) c.2250-566G>T (n.2250-566G>T) c.*2205G>T (n.*2205G>T) c.250G>T (p.Ala84Ser) c.2481-566G>T (n.2481-566G>T) c.2608G>T (p.Ala870Ser) c.2545G>T (p.Ala849Ser) n.1579G>T c.2614G>T (p.Ala872Ser) | |
1 | g.6468459C= | CA1151518463 | PLEKHG5 | c.2377G= (p.Ala793=) c.2551G= (p.Ala851=) c.2488G= (p.Ala830=) n.2853G= c.2584G= (p.Ala862=) c.2674G= (p.Ala892=) c.*2589G= (n.*2589G=) c.2250-566G= (n.2250-566G=) c.*2205G= (n.*2205G=) c.250G= (p.Ala84=) c.2481-566G= (n.2481-566G=) c.2608G= (p.Ala870=) c.2545G= (p.Ala849=) n.1579G= c.2614G= (p.Ala872=) | |
1 | g.6468459C>G | CA561172 | PLEKHG5 | c.2377G>C (p.Ala793Pro) c.2551G>C (p.Ala851Pro) c.2488G>C (p.Ala830Pro) n.2853G>C c.2584G>C (p.Ala862Pro) c.2674G>C (p.Ala892Pro) c.*2589G>C (n.*2589G>C) c.2250-566G>C (n.2250-566G>C) c.*2205G>C (n.*2205G>C) c.250G>C (p.Ala84Pro) c.2481-566G>C (n.2481-566G>C) c.2608G>C (p.Ala870Pro) c.2545G>C (p.Ala849Pro) n.1579G>C c.2614G>C (p.Ala872Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468459C>T | CA338117340 | PLEKHG5 | c.2377G>A (p.Ala793Thr) c.2551G>A (p.Ala851Thr) c.2488G>A (p.Ala830Thr) n.2853G>A c.2584G>A (p.Ala862Thr) c.2674G>A (p.Ala892Thr) c.*2589G>A (n.*2589G>A) c.2250-566G>A (n.2250-566G>A) c.*2205G>A (n.*2205G>A) c.250G>A (p.Ala84Thr) c.2481-566G>A (n.2481-566G>A) c.2608G>A (p.Ala870Thr) c.2545G>A (p.Ala849Thr) n.1579G>A c.2614G>A (p.Ala872Thr) | |
1 | g.6468459dup | CA561171 | PLEKHG5 | c.2377dup (p.Ala793GlyfsTer9) c.2551dup (p.Ala851GlyfsTer9) c.2488dup (p.Ala830GlyfsTer9) n.2853dup c.2584dup (p.Ala862GlyfsTer9) c.2674dup (p.Ala892GlyfsTer9) c.*2589dup (n.*2589dup) c.2250-566dup (n.2250-566dup) c.*2205dup (n.*2205dup) c.250dup (p.Ala84GlyfsTer9) c.2481-566dup (n.2481-566dup) c.2608dup (p.Ala870GlyfsTer9) c.2545dup (p.Ala849GlyfsTer9) n.1579dup c.2614dup (p.Ala872GlyfsTer9) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468460A= | CA1151518475 | PLEKHG5 | c.2376T= (p.Thr792=) c.2550T= (p.Thr850=) c.2487T= (p.Thr829=) n.2852T= c.2583T= (p.Thr861=) c.2673T= (p.Thr891=) c.*2588T= (n.*2588T=) c.2250-567T= (n.2250-567T=) c.*2204T= (n.*2204T=) c.249T= (p.Thr83=) c.2481-567T= (n.2481-567T=) c.2607T= (p.Thr869=) c.2544T= (p.Thr848=) n.1578T= c.2613T= (p.Thr871=) | |
1 | g.6468460A>C | CA416022126 | PLEKHG5 | c.2376T>G (p.Thr792=) c.2550T>G (p.Thr850=) c.2487T>G (p.Thr829=) n.2852T>G c.2583T>G (p.Thr861=) c.2673T>G (p.Thr891=) c.*2588T>G (n.*2588T>G) c.2250-567T>G (n.2250-567T>G) c.*2204T>G (n.*2204T>G) c.249T>G (p.Thr83=) c.2481-567T>G (n.2481-567T>G) c.2607T>G (p.Thr869=) c.2544T>G (p.Thr848=) n.1578T>G c.2613T>G (p.Thr871=) | |
1 | g.6468460A>G | CA416022127 | PLEKHG5 | c.2376T>C (p.Thr792=) c.2550T>C (p.Thr850=) c.2487T>C (p.Thr829=) n.2852T>C c.2583T>C (p.Thr861=) c.2673T>C (p.Thr891=) c.*2588T>C (n.*2588T>C) c.2250-567T>C (n.2250-567T>C) c.*2204T>C (n.*2204T>C) c.249T>C (p.Thr83=) c.2481-567T>C (n.2481-567T>C) c.2607T>C (p.Thr869=) c.2544T>C (p.Thr848=) n.1578T>C c.2613T>C (p.Thr871=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468460A>T | CA416022128 | PLEKHG5 | c.2376T>A (p.Thr792=) c.2550T>A (p.Thr850=) c.2487T>A (p.Thr829=) n.2852T>A c.2583T>A (p.Thr861=) c.2673T>A (p.Thr891=) c.*2588T>A (n.*2588T>A) c.2250-567T>A (n.2250-567T>A) c.*2204T>A (n.*2204T>A) c.249T>A (p.Thr83=) c.2481-567T>A (n.2481-567T>A) c.2607T>A (p.Thr869=) c.2544T>A (p.Thr848=) n.1578T>A c.2613T>A (p.Thr871=) | |
1 | g.6468460_6468462del | CA2580062542 | PLEKHG5 | c.2374_2376del (p.Thr792del) c.2548_2550del (p.Thr850del) c.2485_2487del (p.Thr829del) n.2850_2852del c.2581_2583del (p.Thr861del) c.2671_2673del (p.Thr891del) c.*2586_*2588del (n.*2586_*2588del) c.2250-569_2250-567del (n.2250-569_2250-567del) c.*2202_*2204del (n.*2202_*2204del) c.247_249del (p.Thr83del) c.2481-569_2481-567del (n.2481-569_2481-567del) c.2605_2607del (p.Thr869del) c.2542_2544del (p.Thr848del) n.1576_1578del c.2611_2613del (p.Thr871del) | ClinVar |
1 | g.6468461G>A | CA338117350 | PLEKHG5 | c.2375C>T (p.Thr792Ile) c.2549C>T (p.Thr850Ile) c.2486C>T (p.Thr829Ile) n.2851C>T c.2582C>T (p.Thr861Ile) c.2672C>T (p.Thr891Ile) c.*2587C>T (n.*2587C>T) c.2250-568C>T (n.2250-568C>T) c.*2203C>T (n.*2203C>T) c.248C>T (p.Thr83Ile) c.2481-568C>T (n.2481-568C>T) c.2606C>T (p.Thr869Ile) c.2543C>T (p.Thr848Ile) n.1577C>T c.2612C>T (p.Thr871Ile) | |
1 | g.6468461G>C | CA338117347 | PLEKHG5 | c.2375C>G (p.Thr792Ser) c.2549C>G (p.Thr850Ser) c.2486C>G (p.Thr829Ser) n.2851C>G c.2582C>G (p.Thr861Ser) c.2672C>G (p.Thr891Ser) c.*2587C>G (n.*2587C>G) c.2250-568C>G (n.2250-568C>G) c.*2203C>G (n.*2203C>G) c.248C>G (p.Thr83Ser) c.2481-568C>G (n.2481-568C>G) c.2606C>G (p.Thr869Ser) c.2543C>G (p.Thr848Ser) n.1577C>G c.2612C>G (p.Thr871Ser) | |
1 | g.6468461G>T | CA338117343 | PLEKHG5 | c.2375C>A (p.Thr792Asn) c.2549C>A (p.Thr850Asn) c.2486C>A (p.Thr829Asn) n.2851C>A c.2582C>A (p.Thr861Asn) c.2672C>A (p.Thr891Asn) c.*2587C>A (n.*2587C>A) c.2250-568C>A (n.2250-568C>A) c.*2203C>A (n.*2203C>A) c.248C>A (p.Thr83Asn) c.2481-568C>A (n.2481-568C>A) c.2606C>A (p.Thr869Asn) c.2543C>A (p.Thr848Asn) n.1577C>A c.2612C>A (p.Thr871Asn) | |
1 | g.6468462T>A | CA338117354 | PLEKHG5 | c.2374A>T (p.Thr792Ser) c.2548A>T (p.Thr850Ser) c.2485A>T (p.Thr829Ser) n.2850A>T c.2581A>T (p.Thr861Ser) c.2671A>T (p.Thr891Ser) c.*2586A>T (n.*2586A>T) c.2250-569A>T (n.2250-569A>T) c.*2202A>T (n.*2202A>T) c.247A>T (p.Thr83Ser) c.2481-569A>T (n.2481-569A>T) c.2605A>T (p.Thr869Ser) c.2542A>T (p.Thr848Ser) n.1576A>T c.2611A>T (p.Thr871Ser) | |
1 | g.6468462T>C | CA338117357 | PLEKHG5 | c.2374A>G (p.Thr792Ala) c.2548A>G (p.Thr850Ala) c.2485A>G (p.Thr829Ala) n.2850A>G c.2581A>G (p.Thr861Ala) c.2671A>G (p.Thr891Ala) c.*2586A>G (n.*2586A>G) c.2250-569A>G (n.2250-569A>G) c.*2202A>G (n.*2202A>G) c.247A>G (p.Thr83Ala) c.2481-569A>G (n.2481-569A>G) c.2605A>G (p.Thr869Ala) c.2542A>G (p.Thr848Ala) n.1576A>G c.2611A>G (p.Thr871Ala) | gnomAD v4 |
1 | g.6468462T>G | CA338117364 | PLEKHG5 | c.2374A>C (p.Thr792Pro) c.2548A>C (p.Thr850Pro) c.2485A>C (p.Thr829Pro) n.2850A>C c.2581A>C (p.Thr861Pro) c.2671A>C (p.Thr891Pro) c.*2586A>C (n.*2586A>C) c.2250-569A>C (n.2250-569A>C) c.*2202A>C (n.*2202A>C) c.247A>C (p.Thr83Pro) c.2481-569A>C (n.2481-569A>C) c.2605A>C (p.Thr869Pro) c.2542A>C (p.Thr848Pro) n.1576A>C c.2611A>C (p.Thr871Pro) | dbSNP |
1 | g.6468462T= | CA1151518481 | PLEKHG5 | c.2374A= (p.Thr792=) c.2548A= (p.Thr850=) c.2485A= (p.Thr829=) n.2850A= c.2581A= (p.Thr861=) c.2671A= (p.Thr891=) c.*2586A= (n.*2586A=) c.2250-569A= (n.2250-569A=) c.*2202A= (n.*2202A=) c.247A= (p.Thr83=) c.2481-569A= (n.2481-569A=) c.2605A= (p.Thr869=) c.2542A= (p.Thr848=) n.1576A= c.2611A= (p.Thr871=) | |
1 | g.6468463G>A | CA416022130 | PLEKHG5 | c.2373C>T (p.Thr791=) c.2547C>T (p.Thr849=) c.2484C>T (p.Thr828=) n.2849C>T c.2580C>T (p.Thr860=) c.2670C>T (p.Thr890=) c.*2585C>T (n.*2585C>T) c.2250-570C>T (n.2250-570C>T) c.*2201C>T (n.*2201C>T) c.246C>T (p.Thr82=) c.2481-570C>T (n.2481-570C>T) c.2604C>T (p.Thr868=) c.2541C>T (p.Thr847=) n.1575C>T c.2610C>T (p.Thr870=) | gnomAD v4 |
1 | g.6468463G>C | CA416022131 | PLEKHG5 | c.2373C>G (p.Thr791=) c.2547C>G (p.Thr849=) c.2484C>G (p.Thr828=) n.2849C>G c.2580C>G (p.Thr860=) c.2670C>G (p.Thr890=) c.*2585C>G (n.*2585C>G) c.2250-570C>G (n.2250-570C>G) c.*2201C>G (n.*2201C>G) c.246C>G (p.Thr82=) c.2481-570C>G (n.2481-570C>G) c.2604C>G (p.Thr868=) c.2541C>G (p.Thr847=) n.1575C>G c.2610C>G (p.Thr870=) | gnomAD v4 |
1 | g.6468463G>T | CA416022132 | PLEKHG5 | c.2373C>A (p.Thr791=) c.2547C>A (p.Thr849=) c.2484C>A (p.Thr828=) n.2849C>A c.2580C>A (p.Thr860=) c.2670C>A (p.Thr890=) c.*2585C>A (n.*2585C>A) c.2250-570C>A (n.2250-570C>A) c.*2201C>A (n.*2201C>A) c.246C>A (p.Thr82=) c.2481-570C>A (n.2481-570C>A) c.2604C>A (p.Thr868=) c.2541C>A (p.Thr847=) n.1575C>A c.2610C>A (p.Thr870=) | |
1 | g.6468464G>A | CA338117368 | PLEKHG5 | c.2372C>T (p.Thr791Ile) c.2546C>T (p.Thr849Ile) c.2483C>T (p.Thr828Ile) n.2848C>T c.2579C>T (p.Thr860Ile) c.2669C>T (p.Thr890Ile) c.*2584C>T (n.*2584C>T) c.2250-571C>T (n.2250-571C>T) c.*2200C>T (n.*2200C>T) c.245C>T (p.Thr82Ile) c.2481-571C>T (n.2481-571C>T) c.2603C>T (p.Thr868Ile) c.2540C>T (p.Thr847Ile) n.1574C>T c.2609C>T (p.Thr870Ile) | |
1 | g.6468464G>C | CA338117371 | PLEKHG5 | c.2372C>G (p.Thr791Ser) c.2546C>G (p.Thr849Ser) c.2483C>G (p.Thr828Ser) n.2848C>G c.2579C>G (p.Thr860Ser) c.2669C>G (p.Thr890Ser) c.*2584C>G (n.*2584C>G) c.2250-571C>G (n.2250-571C>G) c.*2200C>G (n.*2200C>G) c.245C>G (p.Thr82Ser) c.2481-571C>G (n.2481-571C>G) c.2603C>G (p.Thr868Ser) c.2540C>G (p.Thr847Ser) n.1574C>G c.2609C>G (p.Thr870Ser) | |
1 | g.6468464G>T | CA338117374 | PLEKHG5 | c.2372C>A (p.Thr791Asn) c.2546C>A (p.Thr849Asn) c.2483C>A (p.Thr828Asn) n.2848C>A c.2579C>A (p.Thr860Asn) c.2669C>A (p.Thr890Asn) c.*2584C>A (n.*2584C>A) c.2250-571C>A (n.2250-571C>A) c.*2200C>A (n.*2200C>A) c.245C>A (p.Thr82Asn) c.2481-571C>A (n.2481-571C>A) c.2603C>A (p.Thr868Asn) c.2540C>A (p.Thr847Asn) n.1574C>A c.2609C>A (p.Thr870Asn) | ClinVar |
1 | g.6468465T>A | CA338117377 | PLEKHG5 | c.2371A>T (p.Thr791Ser) c.2545A>T (p.Thr849Ser) c.2482A>T (p.Thr828Ser) n.2847A>T c.2578A>T (p.Thr860Ser) c.2668A>T (p.Thr890Ser) c.*2583A>T (n.*2583A>T) c.2250-572A>T (n.2250-572A>T) c.*2199A>T (n.*2199A>T) c.244A>T (p.Thr82Ser) c.2481-572A>T (n.2481-572A>T) c.2602A>T (p.Thr868Ser) c.2539A>T (p.Thr847Ser) n.1573A>T c.2608A>T (p.Thr870Ser) | |
1 | g.6468465T>C | CA338117381 | PLEKHG5 | c.2371A>G (p.Thr791Ala) c.2545A>G (p.Thr849Ala) c.2482A>G (p.Thr828Ala) n.2847A>G c.2578A>G (p.Thr860Ala) c.2668A>G (p.Thr890Ala) c.*2583A>G (n.*2583A>G) c.2250-572A>G (n.2250-572A>G) c.*2199A>G (n.*2199A>G) c.244A>G (p.Thr82Ala) c.2481-572A>G (n.2481-572A>G) c.2602A>G (p.Thr868Ala) c.2539A>G (p.Thr847Ala) n.1573A>G c.2608A>G (p.Thr870Ala) | |
1 | g.6468465T>G | CA338117379 | PLEKHG5 | c.2371A>C (p.Thr791Pro) c.2545A>C (p.Thr849Pro) c.2482A>C (p.Thr828Pro) n.2847A>C c.2578A>C (p.Thr860Pro) c.2668A>C (p.Thr890Pro) c.*2583A>C (n.*2583A>C) c.2250-572A>C (n.2250-572A>C) c.*2199A>C (n.*2199A>C) c.244A>C (p.Thr82Pro) c.2481-572A>C (n.2481-572A>C) c.2602A>C (p.Thr868Pro) c.2539A>C (p.Thr847Pro) n.1573A>C c.2608A>C (p.Thr870Pro) | dbSNP |
1 | g.6468465T= | CA1151518489 | PLEKHG5 | c.2371A= (p.Thr791=) c.2545A= (p.Thr849=) c.2482A= (p.Thr828=) n.2847A= c.2578A= (p.Thr860=) c.2668A= (p.Thr890=) c.*2583A= (n.*2583A=) c.2250-572A= (n.2250-572A=) c.*2199A= (n.*2199A=) c.244A= (p.Thr82=) c.2481-572A= (n.2481-572A=) c.2602A= (p.Thr868=) c.2539A= (p.Thr847=) n.1573A= c.2608A= (p.Thr870=) | |
1 | g.6468466G>A | CA416022135 | PLEKHG5 | c.2370C>T (p.Ser790=) c.2544C>T (p.Ser848=) c.2481C>T (p.Ser827=) n.2846C>T c.2577C>T (p.Ser859=) c.2667C>T (p.Ser889=) c.*2582C>T (n.*2582C>T) c.2250-573C>T (n.2250-573C>T) c.*2198C>T (n.*2198C>T) c.243C>T (p.Ser81=) c.2481-573C>T (n.2481-573C>T) c.2601C>T (p.Ser867=) c.2538C>T (p.Ser846=) n.1572C>T c.2607C>T (p.Ser869=) | |
1 | g.6468466G>C | CA338117385 | PLEKHG5 | c.2370C>G (p.Ser790Arg) c.2544C>G (p.Ser848Arg) c.2481C>G (p.Ser827Arg) n.2846C>G c.2577C>G (p.Ser859Arg) c.2667C>G (p.Ser889Arg) c.*2582C>G (n.*2582C>G) c.2250-573C>G (n.2250-573C>G) c.*2198C>G (n.*2198C>G) c.243C>G (p.Ser81Arg) c.2481-573C>G (n.2481-573C>G) c.2601C>G (p.Ser867Arg) c.2538C>G (p.Ser846Arg) n.1572C>G c.2607C>G (p.Ser869Arg) | |
1 | g.6468466G>T | CA338117387 | PLEKHG5 | c.2370C>A (p.Ser790Arg) c.2544C>A (p.Ser848Arg) c.2481C>A (p.Ser827Arg) n.2846C>A c.2577C>A (p.Ser859Arg) c.2667C>A (p.Ser889Arg) c.*2582C>A (n.*2582C>A) c.2250-573C>A (n.2250-573C>A) c.*2198C>A (n.*2198C>A) c.243C>A (p.Ser81Arg) c.2481-573C>A (n.2481-573C>A) c.2601C>A (p.Ser867Arg) c.2538C>A (p.Ser846Arg) n.1572C>A c.2607C>A (p.Ser869Arg) | |
1 | g.6468467C>A | CA338117391 | PLEKHG5 | c.2369G>T (p.Ser790Ile) c.2543G>T (p.Ser848Ile) c.2480G>T (p.Ser827Ile) n.2845G>T c.2576G>T (p.Ser859Ile) c.2666G>T (p.Ser889Ile) c.*2581G>T (n.*2581G>T) c.2250-574G>T (n.2250-574G>T) c.*2197G>T (n.*2197G>T) c.242G>T (p.Ser81Ile) c.2481-574G>T (n.2481-574G>T) c.2600G>T (p.Ser867Ile) c.2537G>T (p.Ser846Ile) n.1571G>T c.2606G>T (p.Ser869Ile) | gnomAD v4 |
1 | g.6468467C>G | CA338117398 | PLEKHG5 | c.2369G>C (p.Ser790Thr) c.2543G>C (p.Ser848Thr) c.2480G>C (p.Ser827Thr) n.2845G>C c.2576G>C (p.Ser859Thr) c.2666G>C (p.Ser889Thr) c.*2581G>C (n.*2581G>C) c.2250-574G>C (n.2250-574G>C) c.*2197G>C (n.*2197G>C) c.242G>C (p.Ser81Thr) c.2481-574G>C (n.2481-574G>C) c.2600G>C (p.Ser867Thr) c.2537G>C (p.Ser846Thr) n.1571G>C c.2606G>C (p.Ser869Thr) | |
1 | g.6468467C>T | CA338117393 | PLEKHG5 | c.2369G>A (p.Ser790Asn) c.2543G>A (p.Ser848Asn) c.2480G>A (p.Ser827Asn) n.2845G>A c.2576G>A (p.Ser859Asn) c.2666G>A (p.Ser889Asn) c.*2581G>A (n.*2581G>A) c.2250-574G>A (n.2250-574G>A) c.*2197G>A (n.*2197G>A) c.242G>A (p.Ser81Asn) c.2481-574G>A (n.2481-574G>A) c.2600G>A (p.Ser867Asn) c.2537G>A (p.Ser846Asn) n.1571G>A c.2606G>A (p.Ser869Asn) | |
1 | g.6468468T>A | CA338117401 | PLEKHG5 | c.2368A>T (p.Ser790Cys) c.2542A>T (p.Ser848Cys) c.2479A>T (p.Ser827Cys) n.2844A>T c.2575A>T (p.Ser859Cys) c.2665A>T (p.Ser889Cys) c.*2580A>T (n.*2580A>T) c.2250-575A>T (n.2250-575A>T) c.*2196A>T (n.*2196A>T) c.241A>T (p.Ser81Cys) c.2481-575A>T (n.2481-575A>T) c.2599A>T (p.Ser867Cys) c.2536A>T (p.Ser846Cys) n.1570A>T c.2605A>T (p.Ser869Cys) | |
1 | g.6468468T>C | CA338117406 | PLEKHG5 | c.2368A>G (p.Ser790Gly) c.2542A>G (p.Ser848Gly) c.2479A>G (p.Ser827Gly) n.2844A>G c.2575A>G (p.Ser859Gly) c.2665A>G (p.Ser889Gly) c.*2580A>G (n.*2580A>G) c.2250-575A>G (n.2250-575A>G) c.*2196A>G (n.*2196A>G) c.241A>G (p.Ser81Gly) c.2481-575A>G (n.2481-575A>G) c.2599A>G (p.Ser867Gly) c.2536A>G (p.Ser846Gly) n.1570A>G c.2605A>G (p.Ser869Gly) | |
1 | g.6468468T>G | CA338117404 | PLEKHG5 | c.2368A>C (p.Ser790Arg) c.2542A>C (p.Ser848Arg) c.2479A>C (p.Ser827Arg) n.2844A>C c.2575A>C (p.Ser859Arg) c.2665A>C (p.Ser889Arg) c.*2580A>C (n.*2580A>C) c.2250-575A>C (n.2250-575A>C) c.*2196A>C (n.*2196A>C) c.241A>C (p.Ser81Arg) c.2481-575A>C (n.2481-575A>C) c.2599A>C (p.Ser867Arg) c.2536A>C (p.Ser846Arg) n.1570A>C c.2605A>C (p.Ser869Arg) | |
1 | g.6468468_6468470delinsTGA | CA1151518497 | PLEKHG5 | c.2366_2368delinsTCA (p.Leu789=) c.2540_2542delinsTCA (p.Leu847=) c.2477_2479delinsTCA (p.Leu826=) n.2842_2844delinsTCA c.2573_2575delinsTCA (p.Leu858=) c.2663_2665delinsTCA (p.Leu888=) c.*2578_*2580delinsTCA (n.*2578_*2580delinsTCA) c.2249+572_2250-575delinsTCA (n.2249+572_2250-575delinsTCA) c.*2194_*2196delinsTCA (n.*2194_*2196delinsTCA) c.239_241delinsTCA (p.Leu80=) c.2480+572_2481-575delinsTCA (n.2480+572_2481-575delinsTCA) c.2597_2599delinsTCA (p.Leu866=) c.2534_2536delinsTCA (p.Leu845=) n.1568_1570delinsTCA c.2603_2605delinsTCA (p.Leu868=) | |
1 | g.6468469G>A | CA416022136 | PLEKHG5 | c.2367C>T (p.Leu789=) c.2541C>T (p.Leu847=) c.2478C>T (p.Leu826=) n.2843C>T c.2574C>T (p.Leu858=) c.2664C>T (p.Leu888=) c.*2579C>T (n.*2579C>T) c.2249+573C>T (n.2249+573C>T) c.*2195C>T (n.*2195C>T) c.240C>T (p.Leu80=) c.2480+573C>T (n.2480+573C>T) c.2598C>T (p.Leu866=) c.2535C>T (p.Leu845=) n.1569C>T c.2604C>T (p.Leu868=) | |
1 | g.6468469G>C | CA416022137 | PLEKHG5 | c.2367C>G (p.Leu789=) c.2541C>G (p.Leu847=) c.2478C>G (p.Leu826=) n.2843C>G c.2574C>G (p.Leu858=) c.2664C>G (p.Leu888=) c.*2579C>G (n.*2579C>G) c.2249+573C>G (n.2249+573C>G) c.*2195C>G (n.*2195C>G) c.240C>G (p.Leu80=) c.2480+573C>G (n.2480+573C>G) c.2598C>G (p.Leu866=) c.2535C>G (p.Leu845=) n.1569C>G c.2604C>G (p.Leu868=) | |
1 | g.6468469G>T | CA416022138 | PLEKHG5 | c.2367C>A (p.Leu789=) c.2541C>A (p.Leu847=) c.2478C>A (p.Leu826=) n.2843C>A c.2574C>A (p.Leu858=) c.2664C>A (p.Leu888=) c.*2579C>A (n.*2579C>A) c.2249+573C>A (n.2249+573C>A) c.*2195C>A (n.*2195C>A) c.240C>A (p.Leu80=) c.2480+573C>A (n.2480+573C>A) c.2598C>A (p.Leu866=) c.2535C>A (p.Leu845=) n.1569C>A c.2604C>A (p.Leu868=) | gnomAD v4 |
1 | g.6468474_6468475del | CA561173 | PLEKHG5 | c.2366_2367del (p.Leu789GlnfsTer12) c.2540_2541del (p.Leu847GlnfsTer12) c.2477_2478del (p.Leu826GlnfsTer12) n.2842_2843del c.2573_2574del (p.Leu858GlnfsTer12) c.2663_2664del (p.Leu888GlnfsTer12) c.*2578_*2579del (n.*2578_*2579del) c.2249+572_2249+573del (n.2249+572_2249+573del) c.*2194_*2195del (n.*2194_*2195del) c.239_240del (p.Leu80GlnfsTer12) c.2480+572_2480+573del (n.2480+572_2480+573del) c.2597_2598del (p.Leu866GlnfsTer12) c.2534_2535del (p.Leu845GlnfsTer12) n.1568_1569del c.2603_2604del (p.Leu868GlnfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6468470A>C | CA338117413 | PLEKHG5 | c.2366T>G (p.Leu789Arg) c.2540T>G (p.Leu847Arg) c.2477T>G (p.Leu826Arg) n.2842T>G c.2573T>G (p.Leu858Arg) c.2663T>G (p.Leu888Arg) c.*2578T>G (n.*2578T>G) c.2249+572T>G (n.2249+572T>G) c.*2194T>G (n.*2194T>G) c.239T>G (p.Leu80Arg) c.2480+572T>G (n.2480+572T>G) c.2597T>G (p.Leu866Arg) c.2534T>G (p.Leu845Arg) n.1568T>G c.2603T>G (p.Leu868Arg) | |
1 | g.6468470A>G | CA338117417 | PLEKHG5 | c.2366T>C (p.Leu789Pro) c.2540T>C (p.Leu847Pro) c.2477T>C (p.Leu826Pro) n.2842T>C c.2573T>C (p.Leu858Pro) c.2663T>C (p.Leu888Pro) c.*2578T>C (n.*2578T>C) c.2249+572T>C (n.2249+572T>C) c.*2194T>C (n.*2194T>C) c.239T>C (p.Leu80Pro) c.2480+572T>C (n.2480+572T>C) c.2597T>C (p.Leu866Pro) c.2534T>C (p.Leu845Pro) n.1568T>C c.2603T>C (p.Leu868Pro) | |
1 | g.6468470A>T | CA338117421 | PLEKHG5 | c.2366T>A (p.Leu789His) c.2540T>A (p.Leu847His) c.2477T>A (p.Leu826His) n.2842T>A c.2573T>A (p.Leu858His) c.2663T>A (p.Leu888His) c.*2578T>A (n.*2578T>A) c.2249+572T>A (n.2249+572T>A) c.*2194T>A (n.*2194T>A) c.239T>A (p.Leu80His) c.2480+572T>A (n.2480+572T>A) c.2597T>A (p.Leu866His) c.2534T>A (p.Leu845His) n.1568T>A c.2603T>A (p.Leu868His) | |
1 | g.6468471G>A | CA561174 | PLEKHG5 | c.2365C>T (p.Leu789Phe) c.2539C>T (p.Leu847Phe) c.2476C>T (p.Leu826Phe) n.2841C>T c.2572C>T (p.Leu858Phe) c.2662C>T (p.Leu888Phe) c.*2577C>T (n.*2577C>T) c.2249+571C>T (n.2249+571C>T) c.*2193C>T (n.*2193C>T) c.238C>T (p.Leu80Phe) c.2480+571C>T (n.2480+571C>T) c.2596C>T (p.Leu866Phe) c.2533C>T (p.Leu845Phe) n.1567C>T c.2602C>T (p.Leu868Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468471G>C | CA338117425 | PLEKHG5 | c.2365C>G (p.Leu789Val) c.2539C>G (p.Leu847Val) c.2476C>G (p.Leu826Val) n.2841C>G c.2572C>G (p.Leu858Val) c.2662C>G (p.Leu888Val) c.*2577C>G (n.*2577C>G) c.2249+571C>G (n.2249+571C>G) c.*2193C>G (n.*2193C>G) c.238C>G (p.Leu80Val) c.2480+571C>G (n.2480+571C>G) c.2596C>G (p.Leu866Val) c.2533C>G (p.Leu845Val) n.1567C>G c.2602C>G (p.Leu868Val) | |
1 | g.6468471G= | CA1141641127 | PLEKHG5 | c.2365C= (p.Leu789=) c.2539C= (p.Leu847=) c.2476C= (p.Leu826=) n.2841C= c.2572C= (p.Leu858=) c.2662C= (p.Leu888=) c.*2577C= (n.*2577C=) c.2249+571C= (n.2249+571C=) c.*2193C= (n.*2193C=) c.238C= (p.Leu80=) c.2480+571C= (n.2480+571C=) c.2596C= (p.Leu866=) c.2533C= (p.Leu845=) n.1567C= c.2602C= (p.Leu868=) | |
1 | g.6468471G>T | CA338117428 | PLEKHG5 | c.2365C>A (p.Leu789Ile) c.2539C>A (p.Leu847Ile) c.2476C>A (p.Leu826Ile) n.2841C>A c.2572C>A (p.Leu858Ile) c.2662C>A (p.Leu888Ile) c.*2577C>A (n.*2577C>A) c.2249+571C>A (n.2249+571C>A) c.*2193C>A (n.*2193C>A) c.238C>A (p.Leu80Ile) c.2480+571C>A (n.2480+571C>A) c.2596C>A (p.Leu866Ile) c.2533C>A (p.Leu845Ile) n.1567C>A c.2602C>A (p.Leu868Ile) | |
1 | g.6468472A>C | CA416022142 | PLEKHG5 | c.2364T>G (p.Ser788=) c.2538T>G (p.Ser846=) c.2475T>G (p.Ser825=) n.2840T>G c.2571T>G (p.Ser857=) c.2661T>G (p.Ser887=) c.*2576T>G (n.*2576T>G) c.2249+570T>G (n.2249+570T>G) c.*2192T>G (n.*2192T>G) c.237T>G (p.Ser79=) c.2480+570T>G (n.2480+570T>G) c.2595T>G (p.Ser865=) c.2532T>G (p.Ser844=) n.1566T>G c.2601T>G (p.Ser867=) | |
1 | g.6468472A>G | CA416022143 | PLEKHG5 | c.2364T>C (p.Ser788=) c.2538T>C (p.Ser846=) c.2475T>C (p.Ser825=) n.2840T>C c.2571T>C (p.Ser857=) c.2661T>C (p.Ser887=) c.*2576T>C (n.*2576T>C) c.2249+570T>C (n.2249+570T>C) c.*2192T>C (n.*2192T>C) c.237T>C (p.Ser79=) c.2480+570T>C (n.2480+570T>C) c.2595T>C (p.Ser865=) c.2532T>C (p.Ser844=) n.1566T>C c.2601T>C (p.Ser867=) | |
1 | g.6468472A>T | CA416022144 | PLEKHG5 | c.2364T>A (p.Ser788=) c.2538T>A (p.Ser846=) c.2475T>A (p.Ser825=) n.2840T>A c.2571T>A (p.Ser857=) c.2661T>A (p.Ser887=) c.*2576T>A (n.*2576T>A) c.2249+570T>A (n.2249+570T>A) c.*2192T>A (n.*2192T>A) c.237T>A (p.Ser79=) c.2480+570T>A (n.2480+570T>A) c.2595T>A (p.Ser865=) c.2532T>A (p.Ser844=) n.1566T>A c.2601T>A (p.Ser867=) | |
1 | g.6468473G>A | CA338117432 | PLEKHG5 | c.2363C>T (p.Ser788Phe) c.2537C>T (p.Ser846Phe) c.2474C>T (p.Ser825Phe) n.2839C>T c.2570C>T (p.Ser857Phe) c.2660C>T (p.Ser887Phe) c.*2575C>T (n.*2575C>T) c.2249+569C>T (n.2249+569C>T) c.*2191C>T (n.*2191C>T) c.236C>T (p.Ser79Phe) c.2480+569C>T (n.2480+569C>T) c.2594C>T (p.Ser865Phe) c.2531C>T (p.Ser844Phe) n.1565C>T c.2600C>T (p.Ser867Phe) | |
1 | g.6468473G>C | CA338117436 | PLEKHG5 | c.2363C>G (p.Ser788Cys) c.2537C>G (p.Ser846Cys) c.2474C>G (p.Ser825Cys) n.2839C>G c.2570C>G (p.Ser857Cys) c.2660C>G (p.Ser887Cys) c.*2575C>G (n.*2575C>G) c.2249+569C>G (n.2249+569C>G) c.*2191C>G (n.*2191C>G) c.236C>G (p.Ser79Cys) c.2480+569C>G (n.2480+569C>G) c.2594C>G (p.Ser865Cys) c.2531C>G (p.Ser844Cys) n.1565C>G c.2600C>G (p.Ser867Cys) | gnomAD v4 |
1 | g.6468473G>T | CA338117439 | PLEKHG5 | c.2363C>A (p.Ser788Tyr) c.2537C>A (p.Ser846Tyr) c.2474C>A (p.Ser825Tyr) n.2839C>A c.2570C>A (p.Ser857Tyr) c.2660C>A (p.Ser887Tyr) c.*2575C>A (n.*2575C>A) c.2249+569C>A (n.2249+569C>A) c.*2191C>A (n.*2191C>A) c.236C>A (p.Ser79Tyr) c.2480+569C>A (n.2480+569C>A) c.2594C>A (p.Ser865Tyr) c.2531C>A (p.Ser844Tyr) n.1565C>A c.2600C>A (p.Ser867Tyr) | |
1 | g.6468474A>C | CA338117443 | PLEKHG5 | c.2362T>G (p.Ser788Ala) c.2536T>G (p.Ser846Ala) c.2473T>G (p.Ser825Ala) n.2838T>G c.2569T>G (p.Ser857Ala) c.2659T>G (p.Ser887Ala) c.*2574T>G (n.*2574T>G) c.2249+568T>G (n.2249+568T>G) c.*2190T>G (n.*2190T>G) c.235T>G (p.Ser79Ala) c.2480+568T>G (n.2480+568T>G) c.2593T>G (p.Ser865Ala) c.2530T>G (p.Ser844Ala) n.1564T>G c.2599T>G (p.Ser867Ala) | |
1 | g.6468474A>G | CA338117444 | PLEKHG5 | c.2362T>C (p.Ser788Pro) c.2536T>C (p.Ser846Pro) c.2473T>C (p.Ser825Pro) n.2838T>C c.2569T>C (p.Ser857Pro) c.2659T>C (p.Ser887Pro) c.*2574T>C (n.*2574T>C) c.2249+568T>C (n.2249+568T>C) c.*2190T>C (n.*2190T>C) c.235T>C (p.Ser79Pro) c.2480+568T>C (n.2480+568T>C) c.2593T>C (p.Ser865Pro) c.2530T>C (p.Ser844Pro) n.1564T>C c.2599T>C (p.Ser867Pro) | |
1 | g.6468474A>T | CA338117448 | PLEKHG5 | c.2362T>A (p.Ser788Thr) c.2536T>A (p.Ser846Thr) c.2473T>A (p.Ser825Thr) n.2838T>A c.2569T>A (p.Ser857Thr) c.2659T>A (p.Ser887Thr) c.*2574T>A (n.*2574T>A) c.2249+568T>A (n.2249+568T>A) c.*2190T>A (n.*2190T>A) c.235T>A (p.Ser79Thr) c.2480+568T>A (n.2480+568T>A) c.2593T>A (p.Ser865Thr) c.2530T>A (p.Ser844Thr) n.1564T>A c.2599T>A (p.Ser867Thr) | |
1 | g.6468475G>A | CA561175 | PLEKHG5 | c.2361C>T (p.Thr787=) c.2535C>T (p.Thr845=) c.2472C>T (p.Thr824=) n.2837C>T c.2568C>T (p.Thr856=) c.2658C>T (p.Thr886=) c.*2573C>T (n.*2573C>T) c.2249+567C>T (n.2249+567C>T) c.*2189C>T (n.*2189C>T) c.234C>T (p.Thr78=) c.2480+567C>T (n.2480+567C>T) c.2592C>T (p.Thr864=) c.2529C>T (p.Thr843=) n.1563C>T c.2598C>T (p.Thr866=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468475G>C | CA416022146 | PLEKHG5 | c.2361C>G (p.Thr787=) c.2535C>G (p.Thr845=) c.2472C>G (p.Thr824=) n.2837C>G c.2568C>G (p.Thr856=) c.2658C>G (p.Thr886=) c.*2573C>G (n.*2573C>G) c.2249+567C>G (n.2249+567C>G) c.*2189C>G (n.*2189C>G) c.234C>G (p.Thr78=) c.2480+567C>G (n.2480+567C>G) c.2592C>G (p.Thr864=) c.2529C>G (p.Thr843=) n.1563C>G c.2598C>G (p.Thr866=) | |
1 | g.6468475G= | CA1143457241 | PLEKHG5 | c.2361C= (p.Thr787=) c.2535C= (p.Thr845=) c.2472C= (p.Thr824=) n.2837C= c.2568C= (p.Thr856=) c.2658C= (p.Thr886=) c.*2573C= (n.*2573C=) c.2249+567C= (n.2249+567C=) c.*2189C= (n.*2189C=) c.234C= (p.Thr78=) c.2480+567C= (n.2480+567C=) c.2592C= (p.Thr864=) c.2529C= (p.Thr843=) n.1563C= c.2598C= (p.Thr866=) | |
1 | g.6468475G>T | CA416022147 | PLEKHG5 | c.2361C>A (p.Thr787=) c.2535C>A (p.Thr845=) c.2472C>A (p.Thr824=) n.2837C>A c.2568C>A (p.Thr856=) c.2658C>A (p.Thr886=) c.*2573C>A (n.*2573C>A) c.2249+567C>A (n.2249+567C>A) c.*2189C>A (n.*2189C>A) c.234C>A (p.Thr78=) c.2480+567C>A (n.2480+567C>A) c.2592C>A (p.Thr864=) c.2529C>A (p.Thr843=) n.1563C>A c.2598C>A (p.Thr866=) | |
1 | g.6468476G>A | CA338117457 | PLEKHG5 | c.2360C>T (p.Thr787Ile) c.2534C>T (p.Thr845Ile) c.2471C>T (p.Thr824Ile) n.2836C>T c.2567C>T (p.Thr856Ile) c.2657C>T (p.Thr886Ile) c.*2572C>T (n.*2572C>T) c.2249+566C>T (n.2249+566C>T) c.*2188C>T (n.*2188C>T) c.233C>T (p.Thr78Ile) c.2480+566C>T (n.2480+566C>T) c.2591C>T (p.Thr864Ile) c.2528C>T (p.Thr843Ile) n.1562C>T c.2597C>T (p.Thr866Ile) | gnomAD v4 |
1 | g.6468476G>C | CA338117460 | PLEKHG5 | c.2360C>G (p.Thr787Ser) c.2534C>G (p.Thr845Ser) c.2471C>G (p.Thr824Ser) n.2836C>G c.2567C>G (p.Thr856Ser) c.2657C>G (p.Thr886Ser) c.*2572C>G (n.*2572C>G) c.2249+566C>G (n.2249+566C>G) c.*2188C>G (n.*2188C>G) c.233C>G (p.Thr78Ser) c.2480+566C>G (n.2480+566C>G) c.2591C>G (p.Thr864Ser) c.2528C>G (p.Thr843Ser) n.1562C>G c.2597C>G (p.Thr866Ser) | |
1 | g.6468476G>T | CA338117462 | PLEKHG5 | c.2360C>A (p.Thr787Asn) c.2534C>A (p.Thr845Asn) c.2471C>A (p.Thr824Asn) n.2836C>A c.2567C>A (p.Thr856Asn) c.2657C>A (p.Thr886Asn) c.*2572C>A (n.*2572C>A) c.2249+566C>A (n.2249+566C>A) c.*2188C>A (n.*2188C>A) c.233C>A (p.Thr78Asn) c.2480+566C>A (n.2480+566C>A) c.2591C>A (p.Thr864Asn) c.2528C>A (p.Thr843Asn) n.1562C>A c.2597C>A (p.Thr866Asn) | |
1 | g.6468477T>A | CA338117465 | PLEKHG5 | c.2359A>T (p.Thr787Ser) c.2533A>T (p.Thr845Ser) c.2470A>T (p.Thr824Ser) n.2835A>T c.2566A>T (p.Thr856Ser) c.2656A>T (p.Thr886Ser) c.*2571A>T (n.*2571A>T) c.2249+565A>T (n.2249+565A>T) c.*2187A>T (n.*2187A>T) c.232A>T (p.Thr78Ser) c.2480+565A>T (n.2480+565A>T) c.2590A>T (p.Thr864Ser) c.2527A>T (p.Thr843Ser) n.1561A>T c.2596A>T (p.Thr866Ser) | |
1 | g.6468477T>C | CA338117467 | PLEKHG5 | c.2359A>G (p.Thr787Ala) c.2533A>G (p.Thr845Ala) c.2470A>G (p.Thr824Ala) n.2835A>G c.2566A>G (p.Thr856Ala) c.2656A>G (p.Thr886Ala) c.*2571A>G (n.*2571A>G) c.2249+565A>G (n.2249+565A>G) c.*2187A>G (n.*2187A>G) c.232A>G (p.Thr78Ala) c.2480+565A>G (n.2480+565A>G) c.2590A>G (p.Thr864Ala) c.2527A>G (p.Thr843Ala) n.1561A>G c.2596A>G (p.Thr866Ala) | |
1 | g.6468477T>G | CA338117469 | PLEKHG5 | c.2359A>C (p.Thr787Pro) c.2533A>C (p.Thr845Pro) c.2470A>C (p.Thr824Pro) n.2835A>C c.2566A>C (p.Thr856Pro) c.2656A>C (p.Thr886Pro) c.*2571A>C (n.*2571A>C) c.2249+565A>C (n.2249+565A>C) c.*2187A>C (n.*2187A>C) c.232A>C (p.Thr78Pro) c.2480+565A>C (n.2480+565A>C) c.2590A>C (p.Thr864Pro) c.2527A>C (p.Thr843Pro) n.1561A>C c.2596A>C (p.Thr866Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6468477T= | CA1151518523 | PLEKHG5 | c.2359A= (p.Thr787=) c.2533A= (p.Thr845=) c.2470A= (p.Thr824=) n.2835A= c.2566A= (p.Thr856=) c.2656A= (p.Thr886=) c.*2571A= (n.*2571A=) c.2249+565A= (n.2249+565A=) c.*2187A= (n.*2187A=) c.232A= (p.Thr78=) c.2480+565A= (n.2480+565A=) c.2590A= (p.Thr864=) c.2527A= (p.Thr843=) n.1561A= c.2596A= (p.Thr866=) | |
1 | g.6468478C>A | CA338117472 | PLEKHG5 | c.2358G>T (p.Glu786Asp) c.2532G>T (p.Glu844Asp) c.2469G>T (p.Glu823Asp) n.2834G>T c.2565G>T (p.Glu855Asp) c.2655G>T (p.Glu885Asp) c.*2570G>T (n.*2570G>T) c.2249+564G>T (n.2249+564G>T) c.*2186G>T (n.*2186G>T) c.231G>T (p.Glu77Asp) c.2480+564G>T (n.2480+564G>T) c.2589G>T (p.Glu863Asp) c.2526G>T (p.Glu842Asp) n.1560G>T c.2595G>T (p.Glu865Asp) | gnomAD v4 |
1 | g.6468478C= | CA1151518533 | PLEKHG5 | c.2358G= (p.Glu786=) c.2532G= (p.Glu844=) c.2469G= (p.Glu823=) n.2834G= c.2565G= (p.Glu855=) c.2655G= (p.Glu885=) c.*2570G= (n.*2570G=) c.2249+564G= (n.2249+564G=) c.*2186G= (n.*2186G=) c.231G= (p.Glu77=) c.2480+564G= (n.2480+564G=) c.2589G= (p.Glu863=) c.2526G= (p.Glu842=) n.1560G= c.2595G= (p.Glu865=) | |
1 | g.6468478C>G | CA338117475 | PLEKHG5 | c.2358G>C (p.Glu786Asp) c.2532G>C (p.Glu844Asp) c.2469G>C (p.Glu823Asp) n.2834G>C c.2565G>C (p.Glu855Asp) c.2655G>C (p.Glu885Asp) c.*2570G>C (n.*2570G>C) c.2249+564G>C (n.2249+564G>C) c.*2186G>C (n.*2186G>C) c.231G>C (p.Glu77Asp) c.2480+564G>C (n.2480+564G>C) c.2589G>C (p.Glu863Asp) c.2526G>C (p.Glu842Asp) n.1560G>C c.2595G>C (p.Glu865Asp) | |
1 | g.6468478C>T | CA416022149 | PLEKHG5 | c.2358G>A (p.Glu786=) c.2532G>A (p.Glu844=) c.2469G>A (p.Glu823=) n.2834G>A c.2565G>A (p.Glu855=) c.2655G>A (p.Glu885=) c.*2570G>A (n.*2570G>A) c.2249+564G>A (n.2249+564G>A) c.*2186G>A (n.*2186G>A) c.231G>A (p.Glu77=) c.2480+564G>A (n.2480+564G>A) c.2589G>A (p.Glu863=) c.2526G>A (p.Glu842=) n.1560G>A c.2595G>A (p.Glu865=) | dbSNP gnomAD v4 |
1 | g.6468479T>A | CA338117480 | PLEKHG5 | c.2357A>T (p.Glu786Val) c.2531A>T (p.Glu844Val) c.2468A>T (p.Glu823Val) n.2833A>T c.2564A>T (p.Glu855Val) c.2654A>T (p.Glu885Val) c.*2569A>T (n.*2569A>T) c.2249+563A>T (n.2249+563A>T) c.*2185A>T (n.*2185A>T) c.230A>T (p.Glu77Val) c.2480+563A>T (n.2480+563A>T) c.2588A>T (p.Glu863Val) c.2525A>T (p.Glu842Val) n.1559A>T c.2594A>T (p.Glu865Val) | |
1 | g.6468479T>C | CA338117482 | PLEKHG5 | c.2357A>G (p.Glu786Gly) c.2531A>G (p.Glu844Gly) c.2468A>G (p.Glu823Gly) n.2833A>G c.2564A>G (p.Glu855Gly) c.2654A>G (p.Glu885Gly) c.*2569A>G (n.*2569A>G) c.2249+563A>G (n.2249+563A>G) c.*2185A>G (n.*2185A>G) c.230A>G (p.Glu77Gly) c.2480+563A>G (n.2480+563A>G) c.2588A>G (p.Glu863Gly) c.2525A>G (p.Glu842Gly) n.1559A>G c.2594A>G (p.Glu865Gly) | |
1 | g.6468479T>G | CA338117487 | PLEKHG5 | c.2357A>C (p.Glu786Ala) c.2531A>C (p.Glu844Ala) c.2468A>C (p.Glu823Ala) n.2833A>C c.2564A>C (p.Glu855Ala) c.2654A>C (p.Glu885Ala) c.*2569A>C (n.*2569A>C) c.2249+563A>C (n.2249+563A>C) c.*2185A>C (n.*2185A>C) c.230A>C (p.Glu77Ala) c.2480+563A>C (n.2480+563A>C) c.2588A>C (p.Glu863Ala) c.2525A>C (p.Glu842Ala) n.1559A>C c.2594A>C (p.Glu865Ala) | |
1 | g.6468480C>A | CA338117500 | PLEKHG5 | c.2356G>T (p.Glu786Ter) c.2530G>T (p.Glu844Ter) c.2467G>T (p.Glu823Ter) n.2832G>T c.2563G>T (p.Glu855Ter) c.2653G>T (p.Glu885Ter) c.*2568G>T (n.*2568G>T) c.2249+562G>T (n.2249+562G>T) c.*2184G>T (n.*2184G>T) c.229G>T (p.Glu77Ter) c.2480+562G>T (n.2480+562G>T) c.2587G>T (p.Glu863Ter) c.2524G>T (p.Glu842Ter) n.1558G>T c.2593G>T (p.Glu865Ter) | |
1 | g.6468480C= | CA1151518538 | PLEKHG5 | c.2356G= (p.Glu786=) c.2530G= (p.Glu844=) c.2467G= (p.Glu823=) n.2832G= c.2563G= (p.Glu855=) c.2653G= (p.Glu885=) c.*2568G= (n.*2568G=) c.2249+562G= (n.2249+562G=) c.*2184G= (n.*2184G=) c.229G= (p.Glu77=) c.2480+562G= (n.2480+562G=) c.2587G= (p.Glu863=) c.2524G= (p.Glu842=) n.1558G= c.2593G= (p.Glu865=) | |
1 | g.6468480C>G | CA338117494 | PLEKHG5 | c.2356G>C (p.Glu786Gln) c.2530G>C (p.Glu844Gln) c.2467G>C (p.Glu823Gln) n.2832G>C c.2563G>C (p.Glu855Gln) c.2653G>C (p.Glu885Gln) c.*2568G>C (n.*2568G>C) c.2249+562G>C (n.2249+562G>C) c.*2184G>C (n.*2184G>C) c.229G>C (p.Glu77Gln) c.2480+562G>C (n.2480+562G>C) c.2587G>C (p.Glu863Gln) c.2524G>C (p.Glu842Gln) n.1558G>C c.2593G>C (p.Glu865Gln) | |
1 | g.6468480C>T | CA338117491 | PLEKHG5 | c.2356G>A (p.Glu786Lys) c.2530G>A (p.Glu844Lys) c.2467G>A (p.Glu823Lys) n.2832G>A c.2563G>A (p.Glu855Lys) c.2653G>A (p.Glu885Lys) c.*2568G>A (n.*2568G>A) c.2249+562G>A (n.2249+562G>A) c.*2184G>A (n.*2184G>A) c.229G>A (p.Glu77Lys) c.2480+562G>A (n.2480+562G>A) c.2587G>A (p.Glu863Lys) c.2524G>A (p.Glu842Lys) n.1558G>A c.2593G>A (p.Glu865Lys) | dbSNP |
1 | g.6468481A= | CA1151518555 | PLEKHG5 | c.2355T= (p.Asp785=) c.2529T= (p.Asp843=) c.2466T= (p.Asp822=) n.2831T= c.2562T= (p.Asp854=) c.2652T= (p.Asp884=) c.*2567T= (n.*2567T=) c.2249+561T= (n.2249+561T=) c.*2183T= (n.*2183T=) c.228T= (p.Asp76=) c.2480+561T= (n.2480+561T=) c.2586T= (p.Asp862=) c.2523T= (p.Asp841=) n.1557T= c.2592T= (p.Asp864=) | |
1 | g.6468481A>C | CA561177 | PLEKHG5 | c.2355T>G (p.Asp785Glu) c.2529T>G (p.Asp843Glu) c.2466T>G (p.Asp822Glu) n.2831T>G c.2562T>G (p.Asp854Glu) c.2652T>G (p.Asp884Glu) c.*2567T>G (n.*2567T>G) c.2249+561T>G (n.2249+561T>G) c.*2183T>G (n.*2183T>G) c.228T>G (p.Asp76Glu) c.2480+561T>G (n.2480+561T>G) c.2586T>G (p.Asp862Glu) c.2523T>G (p.Asp841Glu) n.1557T>G c.2592T>G (p.Asp864Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468481A>G | CA416022151 | PLEKHG5 | c.2355T>C (p.Asp785=) c.2529T>C (p.Asp843=) c.2466T>C (p.Asp822=) n.2831T>C c.2562T>C (p.Asp854=) c.2652T>C (p.Asp884=) c.*2567T>C (n.*2567T>C) c.2249+561T>C (n.2249+561T>C) c.*2183T>C (n.*2183T>C) c.228T>C (p.Asp76=) c.2480+561T>C (n.2480+561T>C) c.2586T>C (p.Asp862=) c.2523T>C (p.Asp841=) n.1557T>C c.2592T>C (p.Asp864=) | |
1 | g.6468481A>T | CA561176 | PLEKHG5 | c.2355T>A (p.Asp785Glu) c.2529T>A (p.Asp843Glu) c.2466T>A (p.Asp822Glu) n.2831T>A c.2562T>A (p.Asp854Glu) c.2652T>A (p.Asp884Glu) c.*2567T>A (n.*2567T>A) c.2249+561T>A (n.2249+561T>A) c.*2183T>A (n.*2183T>A) c.228T>A (p.Asp76Glu) c.2480+561T>A (n.2480+561T>A) c.2586T>A (p.Asp862Glu) c.2523T>A (p.Asp841Glu) n.1557T>A c.2592T>A (p.Asp864Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468482T>A | CA561178 | PLEKHG5 | c.2354A>T (p.Asp785Val) c.2528A>T (p.Asp843Val) c.2465A>T (p.Asp822Val) n.2830A>T c.2561A>T (p.Asp854Val) c.2651A>T (p.Asp884Val) c.*2566A>T (n.*2566A>T) c.2249+560A>T (n.2249+560A>T) c.*2182A>T (n.*2182A>T) c.227A>T (p.Asp76Val) c.2480+560A>T (n.2480+560A>T) c.2585A>T (p.Asp862Val) c.2522A>T (p.Asp841Val) n.1556A>T c.2591A>T (p.Asp864Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468482T>C | CA338117504 | PLEKHG5 | c.2354A>G (p.Asp785Gly) c.2528A>G (p.Asp843Gly) c.2465A>G (p.Asp822Gly) n.2830A>G c.2561A>G (p.Asp854Gly) c.2651A>G (p.Asp884Gly) c.*2566A>G (n.*2566A>G) c.2249+560A>G (n.2249+560A>G) c.*2182A>G (n.*2182A>G) c.227A>G (p.Asp76Gly) c.2480+560A>G (n.2480+560A>G) c.2585A>G (p.Asp862Gly) c.2522A>G (p.Asp841Gly) n.1556A>G c.2591A>G (p.Asp864Gly) | |
1 | g.6468482T>G | CA338117508 | PLEKHG5 | c.2354A>C (p.Asp785Ala) c.2528A>C (p.Asp843Ala) c.2465A>C (p.Asp822Ala) n.2830A>C c.2561A>C (p.Asp854Ala) c.2651A>C (p.Asp884Ala) c.*2566A>C (n.*2566A>C) c.2249+560A>C (n.2249+560A>C) c.*2182A>C (n.*2182A>C) c.227A>C (p.Asp76Ala) c.2480+560A>C (n.2480+560A>C) c.2585A>C (p.Asp862Ala) c.2522A>C (p.Asp841Ala) n.1556A>C c.2591A>C (p.Asp864Ala) | |
1 | g.6468482T= | CA1151518563 | PLEKHG5 | c.2354A= (p.Asp785=) c.2528A= (p.Asp843=) c.2465A= (p.Asp822=) n.2830A= c.2561A= (p.Asp854=) c.2651A= (p.Asp884=) c.*2566A= (n.*2566A=) c.2249+560A= (n.2249+560A=) c.*2182A= (n.*2182A=) c.227A= (p.Asp76=) c.2480+560A= (n.2480+560A=) c.2585A= (p.Asp862=) c.2522A= (p.Asp841=) n.1556A= c.2591A= (p.Asp864=) | |
1 | g.6468483C>A | CA338117514 | PLEKHG5 | c.2353G>T (p.Asp785Tyr) c.2527G>T (p.Asp843Tyr) c.2464G>T (p.Asp822Tyr) n.2829G>T c.2560G>T (p.Asp854Tyr) c.2650G>T (p.Asp884Tyr) c.*2565G>T (n.*2565G>T) c.2249+559G>T (n.2249+559G>T) c.*2181G>T (n.*2181G>T) c.226G>T (p.Asp76Tyr) c.2480+559G>T (n.2480+559G>T) c.2584G>T (p.Asp862Tyr) c.2521G>T (p.Asp841Tyr) n.1555G>T c.2590G>T (p.Asp864Tyr) | |
1 | g.6468483C= | CA1151518574 | PLEKHG5 | c.2353G= (p.Asp785=) c.2527G= (p.Asp843=) c.2464G= (p.Asp822=) n.2829G= c.2560G= (p.Asp854=) c.2650G= (p.Asp884=) c.*2565G= (n.*2565G=) c.2249+559G= (n.2249+559G=) c.*2181G= (n.*2181G=) c.226G= (p.Asp76=) c.2480+559G= (n.2480+559G=) c.2584G= (p.Asp862=) c.2521G= (p.Asp841=) n.1555G= c.2590G= (p.Asp864=) | |
1 | g.6468483C>G | CA338117516 | PLEKHG5 | c.2353G>C (p.Asp785His) c.2527G>C (p.Asp843His) c.2464G>C (p.Asp822His) n.2829G>C c.2560G>C (p.Asp854His) c.2650G>C (p.Asp884His) c.*2565G>C (n.*2565G>C) c.2249+559G>C (n.2249+559G>C) c.*2181G>C (n.*2181G>C) c.226G>C (p.Asp76His) c.2480+559G>C (n.2480+559G>C) c.2584G>C (p.Asp862His) c.2521G>C (p.Asp841His) n.1555G>C c.2590G>C (p.Asp864His) | |
1 | g.6468483C>T | CA338117519 | PLEKHG5 | c.2353G>A (p.Asp785Asn) c.2527G>A (p.Asp843Asn) c.2464G>A (p.Asp822Asn) n.2829G>A c.2560G>A (p.Asp854Asn) c.2650G>A (p.Asp884Asn) c.*2565G>A (n.*2565G>A) c.2249+559G>A (n.2249+559G>A) c.*2181G>A (n.*2181G>A) c.226G>A (p.Asp76Asn) c.2480+559G>A (n.2480+559G>A) c.2584G>A (p.Asp862Asn) c.2521G>A (p.Asp841Asn) n.1555G>A c.2590G>A (p.Asp864Asn) | dbSNP |
1 | g.6468484A>C | CA416022153 | PLEKHG5 | c.2352T>G (p.Ser784=) c.2526T>G (p.Ser842=) c.2463T>G (p.Ser821=) n.2828T>G c.2559T>G (p.Ser853=) c.2649T>G (p.Ser883=) c.*2564T>G (n.*2564T>G) c.2249+558T>G (n.2249+558T>G) c.*2180T>G (n.*2180T>G) c.225T>G (p.Ser75=) c.2480+558T>G (n.2480+558T>G) c.2583T>G (p.Ser861=) c.2520T>G (p.Ser840=) n.1554T>G c.2589T>G (p.Ser863=) | ClinVar dbSNP gnomAD v4 |
1 | g.6468484A>G | CA416022154 | PLEKHG5 | c.2352T>C (p.Ser784=) c.2526T>C (p.Ser842=) c.2463T>C (p.Ser821=) n.2828T>C c.2559T>C (p.Ser853=) c.2649T>C (p.Ser883=) c.*2564T>C (n.*2564T>C) c.2249+558T>C (n.2249+558T>C) c.*2180T>C (n.*2180T>C) c.225T>C (p.Ser75=) c.2480+558T>C (n.2480+558T>C) c.2583T>C (p.Ser861=) c.2520T>C (p.Ser840=) n.1554T>C c.2589T>C (p.Ser863=) | |
1 | g.6468484A>T | CA416022155 | PLEKHG5 | c.2352T>A (p.Ser784=) c.2526T>A (p.Ser842=) c.2463T>A (p.Ser821=) n.2828T>A c.2559T>A (p.Ser853=) c.2649T>A (p.Ser883=) c.*2564T>A (n.*2564T>A) c.2249+558T>A (n.2249+558T>A) c.*2180T>A (n.*2180T>A) c.225T>A (p.Ser75=) c.2480+558T>A (n.2480+558T>A) c.2583T>A (p.Ser861=) c.2520T>A (p.Ser840=) n.1554T>A c.2589T>A (p.Ser863=) | |
1 | g.6468485G>A | CA338117524 | PLEKHG5 | c.2351C>T (p.Ser784Phe) c.2525C>T (p.Ser842Phe) c.2462C>T (p.Ser821Phe) n.2827C>T c.2558C>T (p.Ser853Phe) c.2648C>T (p.Ser883Phe) c.*2563C>T (n.*2563C>T) c.2249+557C>T (n.2249+557C>T) c.*2179C>T (n.*2179C>T) c.224C>T (p.Ser75Phe) c.2480+557C>T (n.2480+557C>T) c.2582C>T (p.Ser861Phe) c.2519C>T (p.Ser840Phe) n.1553C>T c.2588C>T (p.Ser863Phe) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6468485G>C | CA338117527 | PLEKHG5 | c.2351C>G (p.Ser784Cys) c.2525C>G (p.Ser842Cys) c.2462C>G (p.Ser821Cys) n.2827C>G c.2558C>G (p.Ser853Cys) c.2648C>G (p.Ser883Cys) c.*2563C>G (n.*2563C>G) c.2249+557C>G (n.2249+557C>G) c.*2179C>G (n.*2179C>G) c.224C>G (p.Ser75Cys) c.2480+557C>G (n.2480+557C>G) c.2582C>G (p.Ser861Cys) c.2519C>G (p.Ser840Cys) n.1553C>G c.2588C>G (p.Ser863Cys) | |
1 | g.6468485G= | CA1151518602 | PLEKHG5 | c.2351C= (p.Ser784=) c.2525C= (p.Ser842=) c.2462C= (p.Ser821=) n.2827C= c.2558C= (p.Ser853=) c.2648C= (p.Ser883=) c.*2563C= (n.*2563C=) c.2249+557C= (n.2249+557C=) c.*2179C= (n.*2179C=) c.224C= (p.Ser75=) c.2480+557C= (n.2480+557C=) c.2582C= (p.Ser861=) c.2519C= (p.Ser840=) n.1553C= c.2588C= (p.Ser863=) | |
1 | g.6468485G>T | CA338117529 | PLEKHG5 | c.2351C>A (p.Ser784Tyr) c.2525C>A (p.Ser842Tyr) c.2462C>A (p.Ser821Tyr) n.2827C>A c.2558C>A (p.Ser853Tyr) c.2648C>A (p.Ser883Tyr) c.*2563C>A (n.*2563C>A) c.2249+557C>A (n.2249+557C>A) c.*2179C>A (n.*2179C>A) c.224C>A (p.Ser75Tyr) c.2480+557C>A (n.2480+557C>A) c.2582C>A (p.Ser861Tyr) c.2519C>A (p.Ser840Tyr) n.1553C>A c.2588C>A (p.Ser863Tyr) | |
1 | g.6468486A>C | CA338117533 | PLEKHG5 | c.2350T>G (p.Ser784Ala) c.2524T>G (p.Ser842Ala) c.2461T>G (p.Ser821Ala) n.2826T>G c.2557T>G (p.Ser853Ala) c.2647T>G (p.Ser883Ala) c.*2562T>G (n.*2562T>G) c.2249+556T>G (n.2249+556T>G) c.*2178T>G (n.*2178T>G) c.223T>G (p.Ser75Ala) c.2480+556T>G (n.2480+556T>G) c.2581T>G (p.Ser861Ala) c.2518T>G (p.Ser840Ala) n.1552T>G c.2587T>G (p.Ser863Ala) | |
1 | g.6468486A>G | CA338117536 | PLEKHG5 | c.2350T>C (p.Ser784Pro) c.2524T>C (p.Ser842Pro) c.2461T>C (p.Ser821Pro) n.2826T>C c.2557T>C (p.Ser853Pro) c.2647T>C (p.Ser883Pro) c.*2562T>C (n.*2562T>C) c.2249+556T>C (n.2249+556T>C) c.*2178T>C (n.*2178T>C) c.223T>C (p.Ser75Pro) c.2480+556T>C (n.2480+556T>C) c.2581T>C (p.Ser861Pro) c.2518T>C (p.Ser840Pro) n.1552T>C c.2587T>C (p.Ser863Pro) | |
1 | g.6468486A>T | CA338117539 | PLEKHG5 | c.2350T>A (p.Ser784Thr) c.2524T>A (p.Ser842Thr) c.2461T>A (p.Ser821Thr) n.2826T>A c.2557T>A (p.Ser853Thr) c.2647T>A (p.Ser883Thr) c.*2562T>A (n.*2562T>A) c.2249+556T>A (n.2249+556T>A) c.*2178T>A (n.*2178T>A) c.223T>A (p.Ser75Thr) c.2480+556T>A (n.2480+556T>A) c.2581T>A (p.Ser861Thr) c.2518T>A (p.Ser840Thr) n.1552T>A c.2587T>A (p.Ser863Thr) | |
1 | g.6468487C>A | CA338117543 | PLEKHG5 | c.2349G>T (p.Gln783His) c.2523G>T (p.Gln841His) c.2460G>T (p.Gln820His) n.2825G>T c.2556G>T (p.Gln852His) c.2646G>T (p.Gln882His) c.*2561G>T (n.*2561G>T) c.2249+555G>T (n.2249+555G>T) c.*2177G>T (n.*2177G>T) c.222G>T (p.Gln74His) c.2480+555G>T (n.2480+555G>T) c.2580G>T (p.Gln860His) c.2517G>T (p.Gln839His) n.1551G>T c.2586G>T (p.Gln862His) | gnomAD v4 |
1 | g.6468487C>G | CA338117547 | PLEKHG5 | c.2349G>C (p.Gln783His) c.2523G>C (p.Gln841His) c.2460G>C (p.Gln820His) n.2825G>C c.2556G>C (p.Gln852His) c.2646G>C (p.Gln882His) c.*2561G>C (n.*2561G>C) c.2249+555G>C (n.2249+555G>C) c.*2177G>C (n.*2177G>C) c.222G>C (p.Gln74His) c.2480+555G>C (n.2480+555G>C) c.2580G>C (p.Gln860His) c.2517G>C (p.Gln839His) n.1551G>C c.2586G>C (p.Gln862His) | |
1 | g.6468487C>T | CA416022156 | PLEKHG5 | c.2349G>A (p.Gln783=) c.2523G>A (p.Gln841=) c.2460G>A (p.Gln820=) n.2825G>A c.2556G>A (p.Gln852=) c.2646G>A (p.Gln882=) c.*2561G>A (n.*2561G>A) c.2249+555G>A (n.2249+555G>A) c.*2177G>A (n.*2177G>A) c.222G>A (p.Gln74=) c.2480+555G>A (n.2480+555G>A) c.2580G>A (p.Gln860=) c.2517G>A (p.Gln839=) n.1551G>A c.2586G>A (p.Gln862=) | gnomAD v4 |
1 | g.6468488T>A | CA338117552 | PLEKHG5 | c.2348A>T (p.Gln783Leu) c.2522A>T (p.Gln841Leu) c.2459A>T (p.Gln820Leu) n.2824A>T c.2555A>T (p.Gln852Leu) c.2645A>T (p.Gln882Leu) c.*2560A>T (n.*2560A>T) c.2249+554A>T (n.2249+554A>T) c.*2176A>T (n.*2176A>T) c.221A>T (p.Gln74Leu) c.2480+554A>T (n.2480+554A>T) c.2579A>T (p.Gln860Leu) c.2516A>T (p.Gln839Leu) n.1550A>T c.2585A>T (p.Gln862Leu) | |
1 | g.6468488T>C | CA338117554 | PLEKHG5 | c.2348A>G (p.Gln783Arg) c.2522A>G (p.Gln841Arg) c.2459A>G (p.Gln820Arg) n.2824A>G c.2555A>G (p.Gln852Arg) c.2645A>G (p.Gln882Arg) c.*2560A>G (n.*2560A>G) c.2249+554A>G (n.2249+554A>G) c.*2176A>G (n.*2176A>G) c.221A>G (p.Gln74Arg) c.2480+554A>G (n.2480+554A>G) c.2579A>G (p.Gln860Arg) c.2516A>G (p.Gln839Arg) n.1550A>G c.2585A>G (p.Gln862Arg) | |
1 | g.6468488T>G | CA338117555 | PLEKHG5 | c.2348A>C (p.Gln783Pro) c.2522A>C (p.Gln841Pro) c.2459A>C (p.Gln820Pro) n.2824A>C c.2555A>C (p.Gln852Pro) c.2645A>C (p.Gln882Pro) c.*2560A>C (n.*2560A>C) c.2249+554A>C (n.2249+554A>C) c.*2176A>C (n.*2176A>C) c.221A>C (p.Gln74Pro) c.2480+554A>C (n.2480+554A>C) c.2579A>C (p.Gln860Pro) c.2516A>C (p.Gln839Pro) n.1550A>C c.2585A>C (p.Gln862Pro) | |
1 | g.6468488_6468489del | CA2642974795 | PLEKHG5 | c.2347_2348del (p.Gln783ValfsTer2) c.2521_2522del (p.Gln841ValfsTer2) c.2458_2459del (p.Gln820ValfsTer2) n.2823_2824del c.2554_2555del (p.Gln852ValfsTer2) c.2644_2645del (p.Gln882ValfsTer2) c.*2559_*2560del (n.*2559_*2560del) c.2249+553_2249+554del (n.2249+553_2249+554del) c.*2175_*2176del (n.*2175_*2176del) c.220_221del (p.Gln74ValfsTer2) c.2480+553_2480+554del (n.2480+553_2480+554del) c.2578_2579del (p.Gln860ValfsTer2) c.2515_2516del (p.Gln839ValfsTer2) n.1549_1550del c.2584_2585del (p.Gln862ValfsTer2) | gnomAD v4 |
1 | g.6468489G>A | CA338117562 | PLEKHG5 | c.2347C>T (p.Gln783Ter) c.2521C>T (p.Gln841Ter) c.2458C>T (p.Gln820Ter) n.2823C>T c.2554C>T (p.Gln852Ter) c.2644C>T (p.Gln882Ter) c.*2559C>T (n.*2559C>T) c.2249+553C>T (n.2249+553C>T) c.*2175C>T (n.*2175C>T) c.220C>T (p.Gln74Ter) c.2480+553C>T (n.2480+553C>T) c.2578C>T (p.Gln860Ter) c.2515C>T (p.Gln839Ter) n.1549C>T c.2584C>T (p.Gln862Ter) | dbSNP |
1 | g.6468489G>C | CA17234288 | PLEKHG5 | c.2347C>G (p.Gln783Glu) c.2521C>G (p.Gln841Glu) c.2458C>G (p.Gln820Glu) n.2823C>G c.2554C>G (p.Gln852Glu) c.2644C>G (p.Gln882Glu) c.*2559C>G (n.*2559C>G) c.2249+553C>G (n.2249+553C>G) c.*2175C>G (n.*2175C>G) c.220C>G (p.Gln74Glu) c.2480+553C>G (n.2480+553C>G) c.2578C>G (p.Gln860Glu) c.2515C>G (p.Gln839Glu) n.1549C>G c.2584C>G (p.Gln862Glu) | dbSNP |
1 | g.6468489G= | CA1151518614 | PLEKHG5 | c.2347C= (p.Gln783=) c.2521C= (p.Gln841=) c.2458C= (p.Gln820=) n.2823C= c.2554C= (p.Gln852=) c.2644C= (p.Gln882=) c.*2559C= (n.*2559C=) c.2249+553C= (n.2249+553C=) c.*2175C= (n.*2175C=) c.220C= (p.Gln74=) c.2480+553C= (n.2480+553C=) c.2578C= (p.Gln860=) c.2515C= (p.Gln839=) n.1549C= c.2584C= (p.Gln862=) | |
1 | g.6468489G>T | CA338117564 | PLEKHG5 | c.2347C>A (p.Gln783Lys) c.2521C>A (p.Gln841Lys) c.2458C>A (p.Gln820Lys) n.2823C>A c.2554C>A (p.Gln852Lys) c.2644C>A (p.Gln882Lys) c.*2559C>A (n.*2559C>A) c.2249+553C>A (n.2249+553C>A) c.*2175C>A (n.*2175C>A) c.220C>A (p.Gln74Lys) c.2480+553C>A (n.2480+553C>A) c.2578C>A (p.Gln860Lys) c.2515C>A (p.Gln839Lys) n.1549C>A c.2584C>A (p.Gln862Lys) | |
1 | g.6468490G>A | CA416022166 | PLEKHG5 | c.2346C>T (p.Ser782=) c.2520C>T (p.Ser840=) c.2457C>T (p.Ser819=) n.2822C>T c.2553C>T (p.Ser851=) c.2643C>T (p.Ser881=) c.*2558C>T (n.*2558C>T) c.2249+552C>T (n.2249+552C>T) c.*2174C>T (n.*2174C>T) c.219C>T (p.Ser73=) c.2480+552C>T (n.2480+552C>T) c.2577C>T (p.Ser859=) c.2514C>T (p.Ser838=) n.1548C>T c.2583C>T (p.Ser861=) | gnomAD v4 |
1 | g.6468490G>C | CA416022164 | PLEKHG5 | c.2346C>G (p.Ser782=) c.2520C>G (p.Ser840=) c.2457C>G (p.Ser819=) n.2822C>G c.2553C>G (p.Ser851=) c.2643C>G (p.Ser881=) c.*2558C>G (n.*2558C>G) c.2249+552C>G (n.2249+552C>G) c.*2174C>G (n.*2174C>G) c.219C>G (p.Ser73=) c.2480+552C>G (n.2480+552C>G) c.2577C>G (p.Ser859=) c.2514C>G (p.Ser838=) n.1548C>G c.2583C>G (p.Ser861=) | |
1 | g.6468490G>T | CA416022163 | PLEKHG5 | c.2346C>A (p.Ser782=) c.2520C>A (p.Ser840=) c.2457C>A (p.Ser819=) n.2822C>A c.2553C>A (p.Ser851=) c.2643C>A (p.Ser881=) c.*2558C>A (n.*2558C>A) c.2249+552C>A (n.2249+552C>A) c.*2174C>A (n.*2174C>A) c.219C>A (p.Ser73=) c.2480+552C>A (n.2480+552C>A) c.2577C>A (p.Ser859=) c.2514C>A (p.Ser838=) n.1548C>A c.2583C>A (p.Ser861=) | |
1 | g.6468491G>A | CA561179 | PLEKHG5 | c.2345C>T (p.Ser782Phe) c.2519C>T (p.Ser840Phe) c.2456C>T (p.Ser819Phe) n.2821C>T c.2552C>T (p.Ser851Phe) c.2642C>T (p.Ser881Phe) c.*2557C>T (n.*2557C>T) c.2249+551C>T (n.2249+551C>T) c.*2173C>T (n.*2173C>T) c.218C>T (p.Ser73Phe) c.2480+551C>T (n.2480+551C>T) c.2576C>T (p.Ser859Phe) c.2513C>T (p.Ser838Phe) n.1547C>T c.2582C>T (p.Ser861Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468491G>C | CA338117570 | PLEKHG5 | c.2345C>G (p.Ser782Cys) c.2519C>G (p.Ser840Cys) c.2456C>G (p.Ser819Cys) n.2821C>G c.2552C>G (p.Ser851Cys) c.2642C>G (p.Ser881Cys) c.*2557C>G (n.*2557C>G) c.2249+551C>G (n.2249+551C>G) c.*2173C>G (n.*2173C>G) c.218C>G (p.Ser73Cys) c.2480+551C>G (n.2480+551C>G) c.2576C>G (p.Ser859Cys) c.2513C>G (p.Ser838Cys) n.1547C>G c.2582C>G (p.Ser861Cys) | |
1 | g.6468491G= | CA1151518620 | PLEKHG5 | c.2345C= (p.Ser782=) c.2519C= (p.Ser840=) c.2456C= (p.Ser819=) n.2821C= c.2552C= (p.Ser851=) c.2642C= (p.Ser881=) c.*2557C= (n.*2557C=) c.2249+551C= (n.2249+551C=) c.*2173C= (n.*2173C=) c.218C= (p.Ser73=) c.2480+551C= (n.2480+551C=) c.2576C= (p.Ser859=) c.2513C= (p.Ser838=) n.1547C= c.2582C= (p.Ser861=) | |
1 | g.6468491G>T | CA338117574 | PLEKHG5 | c.2345C>A (p.Ser782Tyr) c.2519C>A (p.Ser840Tyr) c.2456C>A (p.Ser819Tyr) n.2821C>A c.2552C>A (p.Ser851Tyr) c.2642C>A (p.Ser881Tyr) c.*2557C>A (n.*2557C>A) c.2249+551C>A (n.2249+551C>A) c.*2173C>A (n.*2173C>A) c.218C>A (p.Ser73Tyr) c.2480+551C>A (n.2480+551C>A) c.2576C>A (p.Ser859Tyr) c.2513C>A (p.Ser838Tyr) n.1547C>A c.2582C>A (p.Ser861Tyr) | dbSNP gnomAD v4 |
1 | g.6468492A>C | CA338117577 | PLEKHG5 | c.2344T>G (p.Ser782Ala) c.2518T>G (p.Ser840Ala) c.2455T>G (p.Ser819Ala) n.2820T>G c.2551T>G (p.Ser851Ala) c.2641T>G (p.Ser881Ala) c.*2556T>G (n.*2556T>G) c.2249+550T>G (n.2249+550T>G) c.*2172T>G (n.*2172T>G) c.217T>G (p.Ser73Ala) c.2480+550T>G (n.2480+550T>G) c.2575T>G (p.Ser859Ala) c.2512T>G (p.Ser838Ala) n.1546T>G c.2581T>G (p.Ser861Ala) | |
1 | g.6468492A>G | CA338117579 | PLEKHG5 | c.2344T>C (p.Ser782Pro) c.2518T>C (p.Ser840Pro) c.2455T>C (p.Ser819Pro) n.2820T>C c.2551T>C (p.Ser851Pro) c.2641T>C (p.Ser881Pro) c.*2556T>C (n.*2556T>C) c.2249+550T>C (n.2249+550T>C) c.*2172T>C (n.*2172T>C) c.217T>C (p.Ser73Pro) c.2480+550T>C (n.2480+550T>C) c.2575T>C (p.Ser859Pro) c.2512T>C (p.Ser838Pro) n.1546T>C c.2581T>C (p.Ser861Pro) | |
1 | g.6468492A>T | CA338117582 | PLEKHG5 | c.2344T>A (p.Ser782Thr) c.2518T>A (p.Ser840Thr) c.2455T>A (p.Ser819Thr) n.2820T>A c.2551T>A (p.Ser851Thr) c.2641T>A (p.Ser881Thr) c.*2556T>A (n.*2556T>A) c.2249+550T>A (n.2249+550T>A) c.*2172T>A (n.*2172T>A) c.217T>A (p.Ser73Thr) c.2480+550T>A (n.2480+550T>A) c.2575T>A (p.Ser859Thr) c.2512T>A (p.Ser838Thr) n.1546T>A c.2581T>A (p.Ser861Thr) | |
1 | g.6468493G>A | CA416022171 | PLEKHG5 | c.2343C>T (p.Ser781=) c.2517C>T (p.Ser839=) c.2454C>T (p.Ser818=) n.2819C>T c.2550C>T (p.Ser850=) c.2640C>T (p.Ser880=) c.*2555C>T (n.*2555C>T) c.2249+549C>T (n.2249+549C>T) c.*2171C>T (n.*2171C>T) c.216C>T (p.Ser72=) c.2480+549C>T (n.2480+549C>T) c.2574C>T (p.Ser858=) c.2511C>T (p.Ser837=) n.1545C>T c.2580C>T (p.Ser860=) | |
1 | g.6468493G>C | CA338117606 | PLEKHG5 | c.2343C>G (p.Ser781Arg) c.2517C>G (p.Ser839Arg) c.2454C>G (p.Ser818Arg) n.2819C>G c.2550C>G (p.Ser850Arg) c.2640C>G (p.Ser880Arg) c.*2555C>G (n.*2555C>G) c.2249+549C>G (n.2249+549C>G) c.*2171C>G (n.*2171C>G) c.216C>G (p.Ser72Arg) c.2480+549C>G (n.2480+549C>G) c.2574C>G (p.Ser858Arg) c.2511C>G (p.Ser837Arg) n.1545C>G c.2580C>G (p.Ser860Arg) | |
1 | g.6468493G>T | CA338117598 | PLEKHG5 | c.2343C>A (p.Ser781Arg) c.2517C>A (p.Ser839Arg) c.2454C>A (p.Ser818Arg) n.2819C>A c.2550C>A (p.Ser850Arg) c.2640C>A (p.Ser880Arg) c.*2555C>A (n.*2555C>A) c.2249+549C>A (n.2249+549C>A) c.*2171C>A (n.*2171C>A) c.216C>A (p.Ser72Arg) c.2480+549C>A (n.2480+549C>A) c.2574C>A (p.Ser858Arg) c.2511C>A (p.Ser837Arg) n.1545C>A c.2580C>A (p.Ser860Arg) | |
1 | g.6468494C>A | CA338117610 | PLEKHG5 | c.2342G>T (p.Ser781Ile) c.2516G>T (p.Ser839Ile) c.2453G>T (p.Ser818Ile) n.2818G>T c.2549G>T (p.Ser850Ile) c.2639G>T (p.Ser880Ile) c.*2554G>T (n.*2554G>T) c.2249+548G>T (n.2249+548G>T) c.*2170G>T (n.*2170G>T) c.215G>T (p.Ser72Ile) c.2480+548G>T (n.2480+548G>T) c.2573G>T (p.Ser858Ile) c.2510G>T (p.Ser837Ile) n.1544G>T c.2579G>T (p.Ser860Ile) | |
1 | g.6468494C= | CA1149042581 | PLEKHG5 | c.2342G= (p.Ser781=) c.2516G= (p.Ser839=) c.2453G= (p.Ser818=) n.2818G= c.2549G= (p.Ser850=) c.2639G= (p.Ser880=) c.*2554G= (n.*2554G=) c.2249+548G= (n.2249+548G=) c.*2170G= (n.*2170G=) c.215G= (p.Ser72=) c.2480+548G= (n.2480+548G=) c.2573G= (p.Ser858=) c.2510G= (p.Ser837=) n.1544G= c.2579G= (p.Ser860=) | |
1 | g.6468494C>G | CA338117615 | PLEKHG5 | c.2342G>C (p.Ser781Thr) c.2516G>C (p.Ser839Thr) c.2453G>C (p.Ser818Thr) n.2818G>C c.2549G>C (p.Ser850Thr) c.2639G>C (p.Ser880Thr) c.*2554G>C (n.*2554G>C) c.2249+548G>C (n.2249+548G>C) c.*2170G>C (n.*2170G>C) c.215G>C (p.Ser72Thr) c.2480+548G>C (n.2480+548G>C) c.2573G>C (p.Ser858Thr) c.2510G>C (p.Ser837Thr) n.1544G>C c.2579G>C (p.Ser860Thr) | |
1 | g.6468494C>T | CA561180 | PLEKHG5 | c.2342G>A (p.Ser781Asn) c.2516G>A (p.Ser839Asn) c.2453G>A (p.Ser818Asn) n.2818G>A c.2549G>A (p.Ser850Asn) c.2639G>A (p.Ser880Asn) c.*2554G>A (n.*2554G>A) c.2249+548G>A (n.2249+548G>A) c.*2170G>A (n.*2170G>A) c.215G>A (p.Ser72Asn) c.2480+548G>A (n.2480+548G>A) c.2573G>A (p.Ser858Asn) c.2510G>A (p.Ser837Asn) n.1544G>A c.2579G>A (p.Ser860Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468495T>A | CA338117616 | PLEKHG5 | c.2341A>T (p.Ser781Cys) c.2515A>T (p.Ser839Cys) c.2452A>T (p.Ser818Cys) n.2817A>T c.2548A>T (p.Ser850Cys) c.2638A>T (p.Ser880Cys) c.*2553A>T (n.*2553A>T) c.2249+547A>T (n.2249+547A>T) c.*2169A>T (n.*2169A>T) c.214A>T (p.Ser72Cys) c.2480+547A>T (n.2480+547A>T) c.2572A>T (p.Ser858Cys) c.2509A>T (p.Ser837Cys) n.1543A>T c.2578A>T (p.Ser860Cys) | gnomAD v4 |
1 | g.6468495T>C | CA338117617 | PLEKHG5 | c.2341A>G (p.Ser781Gly) c.2515A>G (p.Ser839Gly) c.2452A>G (p.Ser818Gly) n.2817A>G c.2548A>G (p.Ser850Gly) c.2638A>G (p.Ser880Gly) c.*2553A>G (n.*2553A>G) c.2249+547A>G (n.2249+547A>G) c.*2169A>G (n.*2169A>G) c.214A>G (p.Ser72Gly) c.2480+547A>G (n.2480+547A>G) c.2572A>G (p.Ser858Gly) c.2509A>G (p.Ser837Gly) n.1543A>G c.2578A>G (p.Ser860Gly) | |
1 | g.6468495T>G | CA338117619 | PLEKHG5 | c.2341A>C (p.Ser781Arg) c.2515A>C (p.Ser839Arg) c.2452A>C (p.Ser818Arg) n.2817A>C c.2548A>C (p.Ser850Arg) c.2638A>C (p.Ser880Arg) c.*2553A>C (n.*2553A>C) c.2249+547A>C (n.2249+547A>C) c.*2169A>C (n.*2169A>C) c.214A>C (p.Ser72Arg) c.2480+547A>C (n.2480+547A>C) c.2572A>C (p.Ser858Arg) c.2509A>C (p.Ser837Arg) n.1543A>C c.2578A>C (p.Ser860Arg) | |
1 | g.6468496G>A | CA416022178 | PLEKHG5 | c.2340C>T (p.Phe780=) c.2514C>T (p.Phe838=) c.2451C>T (p.Phe817=) n.2816C>T c.2547C>T (p.Phe849=) c.2637C>T (p.Phe879=) c.*2552C>T (n.*2552C>T) c.2249+546C>T (n.2249+546C>T) c.*2168C>T (n.*2168C>T) c.213C>T (p.Phe71=) c.2480+546C>T (n.2480+546C>T) c.2571C>T (p.Phe857=) c.2508C>T (p.Phe836=) n.1542C>T c.2577C>T (p.Phe859=) | |
1 | g.6468496G>C | CA338117623 | PLEKHG5 | c.2340C>G (p.Phe780Leu) c.2514C>G (p.Phe838Leu) c.2451C>G (p.Phe817Leu) n.2816C>G c.2547C>G (p.Phe849Leu) c.2637C>G (p.Phe879Leu) c.*2552C>G (n.*2552C>G) c.2249+546C>G (n.2249+546C>G) c.*2168C>G (n.*2168C>G) c.213C>G (p.Phe71Leu) c.2480+546C>G (n.2480+546C>G) c.2571C>G (p.Phe857Leu) c.2508C>G (p.Phe836Leu) n.1542C>G c.2577C>G (p.Phe859Leu) | |
1 | g.6468496G>T | CA338117626 | PLEKHG5 | c.2340C>A (p.Phe780Leu) c.2514C>A (p.Phe838Leu) c.2451C>A (p.Phe817Leu) n.2816C>A c.2547C>A (p.Phe849Leu) c.2637C>A (p.Phe879Leu) c.*2552C>A (n.*2552C>A) c.2249+546C>A (n.2249+546C>A) c.*2168C>A (n.*2168C>A) c.213C>A (p.Phe71Leu) c.2480+546C>A (n.2480+546C>A) c.2571C>A (p.Phe857Leu) c.2508C>A (p.Phe836Leu) n.1542C>A c.2577C>A (p.Phe859Leu) | |
1 | g.6468497A>C | CA338117631 | PLEKHG5 | c.2339T>G (p.Phe780Cys) c.2513T>G (p.Phe838Cys) c.2450T>G (p.Phe817Cys) n.2815T>G c.2546T>G (p.Phe849Cys) c.2636T>G (p.Phe879Cys) c.*2551T>G (n.*2551T>G) c.2249+545T>G (n.2249+545T>G) c.*2167T>G (n.*2167T>G) c.212T>G (p.Phe71Cys) c.2480+545T>G (n.2480+545T>G) c.2570T>G (p.Phe857Cys) c.2507T>G (p.Phe836Cys) n.1541T>G c.2576T>G (p.Phe859Cys) | |
1 | g.6468497A>G | CA338117634 | PLEKHG5 | c.2339T>C (p.Phe780Ser) c.2513T>C (p.Phe838Ser) c.2450T>C (p.Phe817Ser) n.2815T>C c.2546T>C (p.Phe849Ser) c.2636T>C (p.Phe879Ser) c.*2551T>C (n.*2551T>C) c.2249+545T>C (n.2249+545T>C) c.*2167T>C (n.*2167T>C) c.212T>C (p.Phe71Ser) c.2480+545T>C (n.2480+545T>C) c.2570T>C (p.Phe857Ser) c.2507T>C (p.Phe836Ser) n.1541T>C c.2576T>C (p.Phe859Ser) | |
1 | g.6468497A>T | CA338117638 | PLEKHG5 | c.2339T>A (p.Phe780Tyr) c.2513T>A (p.Phe838Tyr) c.2450T>A (p.Phe817Tyr) n.2815T>A c.2546T>A (p.Phe849Tyr) c.2636T>A (p.Phe879Tyr) c.*2551T>A (n.*2551T>A) c.2249+545T>A (n.2249+545T>A) c.*2167T>A (n.*2167T>A) c.212T>A (p.Phe71Tyr) c.2480+545T>A (n.2480+545T>A) c.2570T>A (p.Phe857Tyr) c.2507T>A (p.Phe836Tyr) n.1541T>A c.2576T>A (p.Phe859Tyr) | |
1 | g.6468498A= | CA1151518635 | PLEKHG5 | c.2338T= (p.Phe780=) c.2512T= (p.Phe838=) c.2449T= (p.Phe817=) n.2814T= c.2545T= (p.Phe849=) c.2635T= (p.Phe879=) c.*2550T= (n.*2550T=) c.2249+544T= (n.2249+544T=) c.*2166T= (n.*2166T=) c.211T= (p.Phe71=) c.2480+544T= (n.2480+544T=) c.2569T= (p.Phe857=) c.2506T= (p.Phe836=) n.1540T= c.2575T= (p.Phe859=) | |
1 | g.6468498A>C | CA338117647 | PLEKHG5 | c.2338T>G (p.Phe780Val) c.2512T>G (p.Phe838Val) c.2449T>G (p.Phe817Val) n.2814T>G c.2545T>G (p.Phe849Val) c.2635T>G (p.Phe879Val) c.*2550T>G (n.*2550T>G) c.2249+544T>G (n.2249+544T>G) c.*2166T>G (n.*2166T>G) c.211T>G (p.Phe71Val) c.2480+544T>G (n.2480+544T>G) c.2569T>G (p.Phe857Val) c.2506T>G (p.Phe836Val) n.1540T>G c.2575T>G (p.Phe859Val) | |
1 | g.6468498A>G | CA338117648 | PLEKHG5 | c.2338T>C (p.Phe780Leu) c.2512T>C (p.Phe838Leu) c.2449T>C (p.Phe817Leu) n.2814T>C c.2545T>C (p.Phe849Leu) c.2635T>C (p.Phe879Leu) c.*2550T>C (n.*2550T>C) c.2249+544T>C (n.2249+544T>C) c.*2166T>C (n.*2166T>C) c.211T>C (p.Phe71Leu) c.2480+544T>C (n.2480+544T>C) c.2569T>C (p.Phe857Leu) c.2506T>C (p.Phe836Leu) n.1540T>C c.2575T>C (p.Phe859Leu) | |
1 | g.6468498A>T | CA338117651 | PLEKHG5 | c.2338T>A (p.Phe780Ile) c.2512T>A (p.Phe838Ile) c.2449T>A (p.Phe817Ile) n.2814T>A c.2545T>A (p.Phe849Ile) c.2635T>A (p.Phe879Ile) c.*2550T>A (n.*2550T>A) c.2249+544T>A (n.2249+544T>A) c.*2166T>A (n.*2166T>A) c.211T>A (p.Phe71Ile) c.2480+544T>A (n.2480+544T>A) c.2569T>A (p.Phe857Ile) c.2506T>A (p.Phe836Ile) n.1540T>A c.2575T>A (p.Phe859Ile) | dbSNP |
1 | g.6468499A= | CA1151518646 | PLEKHG5 | c.2337T= (p.Pro779=) c.2511T= (p.Pro837=) c.2448T= (p.Pro816=) n.2813T= c.2544T= (p.Pro848=) c.2634T= (p.Pro878=) c.*2549T= (n.*2549T=) c.2249+543T= (n.2249+543T=) c.*2165T= (n.*2165T=) c.210T= (p.Pro70=) c.2480+543T= (n.2480+543T=) c.2568T= (p.Pro856=) c.2505T= (p.Pro835=) n.1539T= c.2574T= (p.Pro858=) | |
1 | g.6468499A>C | CA416022183 | PLEKHG5 | c.2337T>G (p.Pro779=) c.2511T>G (p.Pro837=) c.2448T>G (p.Pro816=) n.2813T>G c.2544T>G (p.Pro848=) c.2634T>G (p.Pro878=) c.*2549T>G (n.*2549T>G) c.2249+543T>G (n.2249+543T>G) c.*2165T>G (n.*2165T>G) c.210T>G (p.Pro70=) c.2480+543T>G (n.2480+543T>G) c.2568T>G (p.Pro856=) c.2505T>G (p.Pro835=) n.1539T>G c.2574T>G (p.Pro858=) | |
1 | g.6468499A>G | CA416022184 | PLEKHG5 | c.2337T>C (p.Pro779=) c.2511T>C (p.Pro837=) c.2448T>C (p.Pro816=) n.2813T>C c.2544T>C (p.Pro848=) c.2634T>C (p.Pro878=) c.*2549T>C (n.*2549T>C) c.2249+543T>C (n.2249+543T>C) c.*2165T>C (n.*2165T>C) c.210T>C (p.Pro70=) c.2480+543T>C (n.2480+543T>C) c.2568T>C (p.Pro856=) c.2505T>C (p.Pro835=) n.1539T>C c.2574T>C (p.Pro858=) | |
1 | g.6468499A>T | CA416022185 | PLEKHG5 | c.2337T>A (p.Pro779=) c.2511T>A (p.Pro837=) c.2448T>A (p.Pro816=) n.2813T>A c.2544T>A (p.Pro848=) c.2634T>A (p.Pro878=) c.*2549T>A (n.*2549T>A) c.2249+543T>A (n.2249+543T>A) c.*2165T>A (n.*2165T>A) c.210T>A (p.Pro70=) c.2480+543T>A (n.2480+543T>A) c.2568T>A (p.Pro856=) c.2505T>A (p.Pro835=) n.1539T>A c.2574T>A (p.Pro858=) | |
1 | g.6468500G>A | CA338117658 | PLEKHG5 | c.2336C>T (p.Pro779Leu) c.2510C>T (p.Pro837Leu) c.2447C>T (p.Pro816Leu) n.2812C>T c.2543C>T (p.Pro848Leu) c.2633C>T (p.Pro878Leu) c.*2548C>T (n.*2548C>T) c.2249+542C>T (n.2249+542C>T) c.*2164C>T (n.*2164C>T) c.209C>T (p.Pro70Leu) c.2480+542C>T (n.2480+542C>T) c.2567C>T (p.Pro856Leu) c.2504C>T (p.Pro835Leu) n.1538C>T c.2573C>T (p.Pro858Leu) | gnomAD v4 |
1 | g.6468500G>C | CA338117656 | PLEKHG5 | c.2336C>G (p.Pro779Arg) c.2510C>G (p.Pro837Arg) c.2447C>G (p.Pro816Arg) n.2812C>G c.2543C>G (p.Pro848Arg) c.2633C>G (p.Pro878Arg) c.*2548C>G (n.*2548C>G) c.2249+542C>G (n.2249+542C>G) c.*2164C>G (n.*2164C>G) c.209C>G (p.Pro70Arg) c.2480+542C>G (n.2480+542C>G) c.2567C>G (p.Pro856Arg) c.2504C>G (p.Pro835Arg) n.1538C>G c.2573C>G (p.Pro858Arg) | |
1 | g.6468500G>T | CA338117654 | PLEKHG5 | c.2336C>A (p.Pro779His) c.2510C>A (p.Pro837His) c.2447C>A (p.Pro816His) n.2812C>A c.2543C>A (p.Pro848His) c.2633C>A (p.Pro878His) c.*2548C>A (n.*2548C>A) c.2249+542C>A (n.2249+542C>A) c.*2164C>A (n.*2164C>A) c.209C>A (p.Pro70His) c.2480+542C>A (n.2480+542C>A) c.2567C>A (p.Pro856His) c.2504C>A (p.Pro835His) n.1538C>A c.2573C>A (p.Pro858His) | |
1 | g.6468502_6468518dup | CA1151518667 | PLEKHG5 | c.2320_2336dup (p.Phe780SerfsTer?) c.2494_2510dup (p.Phe838SerfsTer?) c.2431_2447dup (p.Phe817SerfsTer?) n.2796_2812dup c.2527_2543dup (p.Phe849SerfsTer?) c.2617_2633dup (p.Phe879SerfsTer?) c.*2532_*2548dup (n.*2532_*2548dup) c.2249+526_2249+542dup (n.2249+526_2249+542dup) c.*2148_*2164dup (n.*2148_*2164dup) c.193_209dup (p.Phe71SerfsTer?) c.2480+526_2480+542dup (n.2480+526_2480+542dup) c.2551_2567dup (p.Phe857SerfsTer?) c.2488_2504dup (p.Phe836SerfsTer?) n.1522_1538dup c.2557_2573dup (p.Phe859SerfsTer?) | dbSNP |
1 | g.6468501G>A | CA338117661 | PLEKHG5 | c.2335C>T (p.Pro779Ser) c.2509C>T (p.Pro837Ser) c.2446C>T (p.Pro816Ser) n.2811C>T c.2542C>T (p.Pro848Ser) c.2632C>T (p.Pro878Ser) c.*2547C>T (n.*2547C>T) c.2249+541C>T (n.2249+541C>T) c.*2163C>T (n.*2163C>T) c.208C>T (p.Pro70Ser) c.2480+541C>T (n.2480+541C>T) c.2566C>T (p.Pro856Ser) c.2503C>T (p.Pro835Ser) n.1537C>T c.2572C>T (p.Pro858Ser) | ClinVar gnomAD v4 |
1 | g.6468501G>C | CA338117662 | PLEKHG5 | c.2335C>G (p.Pro779Ala) c.2509C>G (p.Pro837Ala) c.2446C>G (p.Pro816Ala) n.2811C>G c.2542C>G (p.Pro848Ala) c.2632C>G (p.Pro878Ala) c.*2547C>G (n.*2547C>G) c.2249+541C>G (n.2249+541C>G) c.*2163C>G (n.*2163C>G) c.208C>G (p.Pro70Ala) c.2480+541C>G (n.2480+541C>G) c.2566C>G (p.Pro856Ala) c.2503C>G (p.Pro835Ala) n.1537C>G c.2572C>G (p.Pro858Ala) | |
1 | g.6468501G>T | CA338117663 | PLEKHG5 | c.2335C>A (p.Pro779Thr) c.2509C>A (p.Pro837Thr) c.2446C>A (p.Pro816Thr) n.2811C>A c.2542C>A (p.Pro848Thr) c.2632C>A (p.Pro878Thr) c.*2547C>A (n.*2547C>A) c.2249+541C>A (n.2249+541C>A) c.*2163C>A (n.*2163C>A) c.208C>A (p.Pro70Thr) c.2480+541C>A (n.2480+541C>A) c.2566C>A (p.Pro856Thr) c.2503C>A (p.Pro835Thr) n.1537C>A c.2572C>A (p.Pro858Thr) | |
1 | g.6468502A>C | CA416022190 | PLEKHG5 | c.2334T>G (p.Gly778=) c.2508T>G (p.Gly836=) c.2445T>G (p.Gly815=) n.2810T>G c.2541T>G (p.Gly847=) c.2631T>G (p.Gly877=) c.*2546T>G (n.*2546T>G) c.2249+540T>G (n.2249+540T>G) c.*2162T>G (n.*2162T>G) c.207T>G (p.Gly69=) c.2480+540T>G (n.2480+540T>G) c.2565T>G (p.Gly855=) c.2502T>G (p.Gly834=) n.1536T>G c.2571T>G (p.Gly857=) | ClinVar |
1 | g.6468502A>G | CA416022191 | PLEKHG5 | c.2334T>C (p.Gly778=) c.2508T>C (p.Gly836=) c.2445T>C (p.Gly815=) n.2810T>C c.2541T>C (p.Gly847=) c.2631T>C (p.Gly877=) c.*2546T>C (n.*2546T>C) c.2249+540T>C (n.2249+540T>C) c.*2162T>C (n.*2162T>C) c.207T>C (p.Gly69=) c.2480+540T>C (n.2480+540T>C) c.2565T>C (p.Gly855=) c.2502T>C (p.Gly834=) n.1536T>C c.2571T>C (p.Gly857=) | |
1 | g.6468502A>T | CA416022192 | PLEKHG5 | c.2334T>A (p.Gly778=) c.2508T>A (p.Gly836=) c.2445T>A (p.Gly815=) n.2810T>A c.2541T>A (p.Gly847=) c.2631T>A (p.Gly877=) c.*2546T>A (n.*2546T>A) c.2249+540T>A (n.2249+540T>A) c.*2162T>A (n.*2162T>A) c.207T>A (p.Gly69=) c.2480+540T>A (n.2480+540T>A) c.2565T>A (p.Gly855=) c.2502T>A (p.Gly834=) n.1536T>A c.2571T>A (p.Gly857=) | |
1 | g.6468503C>A | CA338117664 | PLEKHG5 | c.2333G>T (p.Gly778Val) c.2507G>T (p.Gly836Val) c.2444G>T (p.Gly815Val) n.2809G>T c.2540G>T (p.Gly847Val) c.2630G>T (p.Gly877Val) c.*2545G>T (n.*2545G>T) c.2249+539G>T (n.2249+539G>T) c.*2161G>T (n.*2161G>T) c.206G>T (p.Gly69Val) c.2480+539G>T (n.2480+539G>T) c.2564G>T (p.Gly855Val) c.2501G>T (p.Gly834Val) n.1535G>T c.2570G>T (p.Gly857Val) | gnomAD v4 |
1 | g.6468503C>G | CA338117665 | PLEKHG5 | c.2333G>C (p.Gly778Ala) c.2507G>C (p.Gly836Ala) c.2444G>C (p.Gly815Ala) n.2809G>C c.2540G>C (p.Gly847Ala) c.2630G>C (p.Gly877Ala) c.*2545G>C (n.*2545G>C) c.2249+539G>C (n.2249+539G>C) c.*2161G>C (n.*2161G>C) c.206G>C (p.Gly69Ala) c.2480+539G>C (n.2480+539G>C) c.2564G>C (p.Gly855Ala) c.2501G>C (p.Gly834Ala) n.1535G>C c.2570G>C (p.Gly857Ala) | |
1 | g.6468503C>T | CA338117667 | PLEKHG5 | c.2333G>A (p.Gly778Asp) c.2507G>A (p.Gly836Asp) c.2444G>A (p.Gly815Asp) n.2809G>A c.2540G>A (p.Gly847Asp) c.2630G>A (p.Gly877Asp) c.*2545G>A (n.*2545G>A) c.2249+539G>A (n.2249+539G>A) c.*2161G>A (n.*2161G>A) c.206G>A (p.Gly69Asp) c.2480+539G>A (n.2480+539G>A) c.2564G>A (p.Gly855Asp) c.2501G>A (p.Gly834Asp) n.1535G>A c.2570G>A (p.Gly857Asp) | |
1 | g.6468504C>A | CA561182 | PLEKHG5 | c.2332G>T (p.Gly778Cys) c.2506G>T (p.Gly836Cys) c.2443G>T (p.Gly815Cys) n.2808G>T c.2539G>T (p.Gly847Cys) c.2629G>T (p.Gly877Cys) c.*2544G>T (n.*2544G>T) c.2249+538G>T (n.2249+538G>T) c.*2160G>T (n.*2160G>T) c.205G>T (p.Gly69Cys) c.2480+538G>T (n.2480+538G>T) c.2563G>T (p.Gly855Cys) c.2500G>T (p.Gly834Cys) n.1534G>T c.2569G>T (p.Gly857Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468504C= | CA1151518679 | PLEKHG5 | c.2332G= (p.Gly778=) c.2506G= (p.Gly836=) c.2443G= (p.Gly815=) n.2808G= c.2539G= (p.Gly847=) c.2629G= (p.Gly877=) c.*2544G= (n.*2544G=) c.2249+538G= (n.2249+538G=) c.*2160G= (n.*2160G=) c.205G= (p.Gly69=) c.2480+538G= (n.2480+538G=) c.2563G= (p.Gly855=) c.2500G= (p.Gly834=) n.1534G= c.2569G= (p.Gly857=) | |
1 | g.6468504C>G | CA338117674 | PLEKHG5 | c.2332G>C (p.Gly778Arg) c.2506G>C (p.Gly836Arg) c.2443G>C (p.Gly815Arg) n.2808G>C c.2539G>C (p.Gly847Arg) c.2629G>C (p.Gly877Arg) c.*2544G>C (n.*2544G>C) c.2249+538G>C (n.2249+538G>C) c.*2160G>C (n.*2160G>C) c.205G>C (p.Gly69Arg) c.2480+538G>C (n.2480+538G>C) c.2563G>C (p.Gly855Arg) c.2500G>C (p.Gly834Arg) n.1534G>C c.2569G>C (p.Gly857Arg) | |
1 | g.6468504C>T | CA561181 | PLEKHG5 | c.2332G>A (p.Gly778Ser) c.2506G>A (p.Gly836Ser) c.2443G>A (p.Gly815Ser) n.2808G>A c.2539G>A (p.Gly847Ser) c.2629G>A (p.Gly877Ser) c.*2544G>A (n.*2544G>A) c.2249+538G>A (n.2249+538G>A) c.*2160G>A (n.*2160G>A) c.205G>A (p.Gly69Ser) c.2480+538G>A (n.2480+538G>A) c.2563G>A (p.Gly855Ser) c.2500G>A (p.Gly834Ser) n.1534G>A c.2569G>A (p.Gly857Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468505G>A | CA561183 | PLEKHG5 | c.2331C>T (p.Ser777=) c.2505C>T (p.Ser835=) c.2442C>T (p.Ser814=) n.2807C>T c.2538C>T (p.Ser846=) c.2628C>T (p.Ser876=) c.*2543C>T (n.*2543C>T) c.2249+537C>T (n.2249+537C>T) c.*2159C>T (n.*2159C>T) c.204C>T (p.Ser68=) c.2480+537C>T (n.2480+537C>T) c.2562C>T (p.Ser854=) c.2499C>T (p.Ser833=) n.1533C>T c.2568C>T (p.Ser856=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468505G>C | CA338117679 | PLEKHG5 | c.2331C>G (p.Ser777Arg) c.2505C>G (p.Ser835Arg) c.2442C>G (p.Ser814Arg) n.2807C>G c.2538C>G (p.Ser846Arg) c.2628C>G (p.Ser876Arg) c.*2543C>G (n.*2543C>G) c.2249+537C>G (n.2249+537C>G) c.*2159C>G (n.*2159C>G) c.204C>G (p.Ser68Arg) c.2480+537C>G (n.2480+537C>G) c.2562C>G (p.Ser854Arg) c.2499C>G (p.Ser833Arg) n.1533C>G c.2568C>G (p.Ser856Arg) | gnomAD v4 |
1 | g.6468505G= | CA1140725570 | PLEKHG5 | c.2331C= (p.Ser777=) c.2505C= (p.Ser835=) c.2442C= (p.Ser814=) n.2807C= c.2538C= (p.Ser846=) c.2628C= (p.Ser876=) c.*2543C= (n.*2543C=) c.2249+537C= (n.2249+537C=) c.*2159C= (n.*2159C=) c.204C= (p.Ser68=) c.2480+537C= (n.2480+537C=) c.2562C= (p.Ser854=) c.2499C= (p.Ser833=) n.1533C= c.2568C= (p.Ser856=) | |
1 | g.6468505G>T | CA17234339 | PLEKHG5 | c.2331C>A (p.Ser777Arg) c.2505C>A (p.Ser835Arg) c.2442C>A (p.Ser814Arg) n.2807C>A c.2538C>A (p.Ser846Arg) c.2628C>A (p.Ser876Arg) c.*2543C>A (n.*2543C>A) c.2249+537C>A (n.2249+537C>A) c.*2159C>A (n.*2159C>A) c.204C>A (p.Ser68Arg) c.2480+537C>A (n.2480+537C>A) c.2562C>A (p.Ser854Arg) c.2499C>A (p.Ser833Arg) n.1533C>A c.2568C>A (p.Ser856Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6468506C>A | CA338117691 | PLEKHG5 | c.2330G>T (p.Ser777Ile) c.2504G>T (p.Ser835Ile) c.2441G>T (p.Ser814Ile) n.2806G>T c.2537G>T (p.Ser846Ile) c.2627G>T (p.Ser876Ile) c.*2542G>T (n.*2542G>T) c.2249+536G>T (n.2249+536G>T) c.*2158G>T (n.*2158G>T) c.203G>T (p.Ser68Ile) c.2480+536G>T (n.2480+536G>T) c.2561G>T (p.Ser854Ile) c.2498G>T (p.Ser833Ile) n.1532G>T c.2567G>T (p.Ser856Ile) | gnomAD v4 |
1 | g.6468506C= | CA1151518692 | PLEKHG5 | c.2330G= (p.Ser777=) c.2504G= (p.Ser835=) c.2441G= (p.Ser814=) n.2806G= c.2537G= (p.Ser846=) c.2627G= (p.Ser876=) c.*2542G= (n.*2542G=) c.2249+536G= (n.2249+536G=) c.*2158G= (n.*2158G=) c.203G= (p.Ser68=) c.2480+536G= (n.2480+536G=) c.2561G= (p.Ser854=) c.2498G= (p.Ser833=) n.1532G= c.2567G= (p.Ser856=) | |
1 | g.6468506C>G | CA338117689 | PLEKHG5 | c.2330G>C (p.Ser777Thr) c.2504G>C (p.Ser835Thr) c.2441G>C (p.Ser814Thr) n.2806G>C c.2537G>C (p.Ser846Thr) c.2627G>C (p.Ser876Thr) c.*2542G>C (n.*2542G>C) c.2249+536G>C (n.2249+536G>C) c.*2158G>C (n.*2158G>C) c.203G>C (p.Ser68Thr) c.2480+536G>C (n.2480+536G>C) c.2561G>C (p.Ser854Thr) c.2498G>C (p.Ser833Thr) n.1532G>C c.2567G>C (p.Ser856Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6468506C>T | CA338117684 | PLEKHG5 | c.2330G>A (p.Ser777Asn) c.2504G>A (p.Ser835Asn) c.2441G>A (p.Ser814Asn) n.2806G>A c.2537G>A (p.Ser846Asn) c.2627G>A (p.Ser876Asn) c.*2542G>A (n.*2542G>A) c.2249+536G>A (n.2249+536G>A) c.*2158G>A (n.*2158G>A) c.203G>A (p.Ser68Asn) c.2480+536G>A (n.2480+536G>A) c.2561G>A (p.Ser854Asn) c.2498G>A (p.Ser833Asn) n.1532G>A c.2567G>A (p.Ser856Asn) | |
1 | g.6468507T>A | CA338117699 | PLEKHG5 | c.2329A>T (p.Ser777Cys) c.2503A>T (p.Ser835Cys) c.2440A>T (p.Ser814Cys) n.2805A>T c.2536A>T (p.Ser846Cys) c.2626A>T (p.Ser876Cys) c.*2541A>T (n.*2541A>T) c.2249+535A>T (n.2249+535A>T) c.*2157A>T (n.*2157A>T) c.202A>T (p.Ser68Cys) c.2480+535A>T (n.2480+535A>T) c.2560A>T (p.Ser854Cys) c.2497A>T (p.Ser833Cys) n.1531A>T c.2566A>T (p.Ser856Cys) | |
1 | g.6468507T>C | CA338117694 | PLEKHG5 | c.2329A>G (p.Ser777Gly) c.2503A>G (p.Ser835Gly) c.2440A>G (p.Ser814Gly) n.2805A>G c.2536A>G (p.Ser846Gly) c.2626A>G (p.Ser876Gly) c.*2541A>G (n.*2541A>G) c.2249+535A>G (n.2249+535A>G) c.*2157A>G (n.*2157A>G) c.202A>G (p.Ser68Gly) c.2480+535A>G (n.2480+535A>G) c.2560A>G (p.Ser854Gly) c.2497A>G (p.Ser833Gly) n.1531A>G c.2566A>G (p.Ser856Gly) | |
1 | g.6468507T>G | CA338117697 | PLEKHG5 | c.2329A>C (p.Ser777Arg) c.2503A>C (p.Ser835Arg) c.2440A>C (p.Ser814Arg) n.2805A>C c.2536A>C (p.Ser846Arg) c.2626A>C (p.Ser876Arg) c.*2541A>C (n.*2541A>C) c.2249+535A>C (n.2249+535A>C) c.*2157A>C (n.*2157A>C) c.202A>C (p.Ser68Arg) c.2480+535A>C (n.2480+535A>C) c.2560A>C (p.Ser854Arg) c.2497A>C (p.Ser833Arg) n.1531A>C c.2566A>C (p.Ser856Arg) | |
1 | g.6468508G>A | CA416022199 | PLEKHG5 | c.2328C>T (p.Asp776=) c.2502C>T (p.Asp834=) c.2439C>T (p.Asp813=) n.2804C>T c.2535C>T (p.Asp845=) c.2625C>T (p.Asp875=) c.*2540C>T (n.*2540C>T) c.2249+534C>T (n.2249+534C>T) c.*2156C>T (n.*2156C>T) c.201C>T (p.Asp67=) c.2480+534C>T (n.2480+534C>T) c.2559C>T (p.Asp853=) c.2496C>T (p.Asp832=) n.1530C>T c.2565C>T (p.Asp855=) | |
1 | g.6468508G>C | CA338117701 | PLEKHG5 | c.2328C>G (p.Asp776Glu) c.2502C>G (p.Asp834Glu) c.2439C>G (p.Asp813Glu) n.2804C>G c.2535C>G (p.Asp845Glu) c.2625C>G (p.Asp875Glu) c.*2540C>G (n.*2540C>G) c.2249+534C>G (n.2249+534C>G) c.*2156C>G (n.*2156C>G) c.201C>G (p.Asp67Glu) c.2480+534C>G (n.2480+534C>G) c.2559C>G (p.Asp853Glu) c.2496C>G (p.Asp832Glu) n.1530C>G c.2565C>G (p.Asp855Glu) | gnomAD v4 |
1 | g.6468508G>T | CA338117703 | PLEKHG5 | c.2328C>A (p.Asp776Glu) c.2502C>A (p.Asp834Glu) c.2439C>A (p.Asp813Glu) n.2804C>A c.2535C>A (p.Asp845Glu) c.2625C>A (p.Asp875Glu) c.*2540C>A (n.*2540C>A) c.2249+534C>A (n.2249+534C>A) c.*2156C>A (n.*2156C>A) c.201C>A (p.Asp67Glu) c.2480+534C>A (n.2480+534C>A) c.2559C>A (p.Asp853Glu) c.2496C>A (p.Asp832Glu) n.1530C>A c.2565C>A (p.Asp855Glu) | |
1 | g.6468509T>A | CA338117706 | PLEKHG5 | c.2327A>T (p.Asp776Val) c.2501A>T (p.Asp834Val) c.2438A>T (p.Asp813Val) n.2803A>T c.2534A>T (p.Asp845Val) c.2624A>T (p.Asp875Val) c.*2539A>T (n.*2539A>T) c.2249+533A>T (n.2249+533A>T) c.*2155A>T (n.*2155A>T) c.200A>T (p.Asp67Val) c.2480+533A>T (n.2480+533A>T) c.2558A>T (p.Asp853Val) c.2495A>T (p.Asp832Val) n.1529A>T c.2564A>T (p.Asp855Val) | |
1 | g.6468509T>C | CA338117708 | PLEKHG5 | c.2327A>G (p.Asp776Gly) c.2501A>G (p.Asp834Gly) c.2438A>G (p.Asp813Gly) n.2803A>G c.2534A>G (p.Asp845Gly) c.2624A>G (p.Asp875Gly) c.*2539A>G (n.*2539A>G) c.2249+533A>G (n.2249+533A>G) c.*2155A>G (n.*2155A>G) c.200A>G (p.Asp67Gly) c.2480+533A>G (n.2480+533A>G) c.2558A>G (p.Asp853Gly) c.2495A>G (p.Asp832Gly) n.1529A>G c.2564A>G (p.Asp855Gly) | |
1 | g.6468509T>G | CA338117710 | PLEKHG5 | c.2327A>C (p.Asp776Ala) c.2501A>C (p.Asp834Ala) c.2438A>C (p.Asp813Ala) n.2803A>C c.2534A>C (p.Asp845Ala) c.2624A>C (p.Asp875Ala) c.*2539A>C (n.*2539A>C) c.2249+533A>C (n.2249+533A>C) c.*2155A>C (n.*2155A>C) c.200A>C (p.Asp67Ala) c.2480+533A>C (n.2480+533A>C) c.2558A>C (p.Asp853Ala) c.2495A>C (p.Asp832Ala) n.1529A>C c.2564A>C (p.Asp855Ala) | |
1 | g.6468510C>A | CA338117713 | PLEKHG5 | c.2326G>T (p.Asp776Tyr) c.2500G>T (p.Asp834Tyr) c.2437G>T (p.Asp813Tyr) n.2802G>T c.2533G>T (p.Asp845Tyr) c.2623G>T (p.Asp875Tyr) c.*2538G>T (n.*2538G>T) c.2249+532G>T (n.2249+532G>T) c.*2154G>T (n.*2154G>T) c.199G>T (p.Asp67Tyr) c.2480+532G>T (n.2480+532G>T) c.2557G>T (p.Asp853Tyr) c.2494G>T (p.Asp832Tyr) n.1528G>T c.2563G>T (p.Asp855Tyr) | gnomAD v4 |
1 | g.6468510C= | CA1145399346 | PLEKHG5 | c.2326G= (p.Asp776=) c.2500G= (p.Asp834=) c.2437G= (p.Asp813=) n.2802G= c.2533G= (p.Asp845=) c.2623G= (p.Asp875=) c.*2538G= (n.*2538G=) c.2249+532G= (n.2249+532G=) c.*2154G= (n.*2154G=) c.199G= (p.Asp67=) c.2480+532G= (n.2480+532G=) c.2557G= (p.Asp853=) c.2494G= (p.Asp832=) n.1528G= c.2563G= (p.Asp855=) | |
1 | g.6468510C>G | CA338117715 | PLEKHG5 | c.2326G>C (p.Asp776His) c.2500G>C (p.Asp834His) c.2437G>C (p.Asp813His) n.2802G>C c.2533G>C (p.Asp845His) c.2623G>C (p.Asp875His) c.*2538G>C (n.*2538G>C) c.2249+532G>C (n.2249+532G>C) c.*2154G>C (n.*2154G>C) c.199G>C (p.Asp67His) c.2480+532G>C (n.2480+532G>C) c.2557G>C (p.Asp853His) c.2494G>C (p.Asp832His) n.1528G>C c.2563G>C (p.Asp855His) | |
1 | g.6468510C>T | CA561184 | PLEKHG5 | c.2326G>A (p.Asp776Asn) c.2500G>A (p.Asp834Asn) c.2437G>A (p.Asp813Asn) n.2802G>A c.2533G>A (p.Asp845Asn) c.2623G>A (p.Asp875Asn) c.*2538G>A (n.*2538G>A) c.2249+532G>A (n.2249+532G>A) c.*2154G>A (n.*2154G>A) c.199G>A (p.Asp67Asn) c.2480+532G>A (n.2480+532G>A) c.2557G>A (p.Asp853Asn) c.2494G>A (p.Asp832Asn) n.1528G>A c.2563G>A (p.Asp855Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.6468511G>A | CA416022203 | PLEKHG5 | c.2325C>T (p.Phe775=) c.2499C>T (p.Phe833=) c.2436C>T (p.Phe812=) n.2801C>T c.2532C>T (p.Phe844=) c.2622C>T (p.Phe874=) c.*2537C>T (n.*2537C>T) c.2249+531C>T (n.2249+531C>T) c.*2153C>T (n.*2153C>T) c.198C>T (p.Phe66=) c.2480+531C>T (n.2480+531C>T) c.2556C>T (p.Phe852=) c.2493C>T (p.Phe831=) n.1527C>T c.2562C>T (p.Phe854=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6468511G>C | CA338117719 | PLEKHG5 | c.2325C>G (p.Phe775Leu) c.2499C>G (p.Phe833Leu) c.2436C>G (p.Phe812Leu) n.2801C>G c.2532C>G (p.Phe844Leu) c.2622C>G (p.Phe874Leu) c.*2537C>G (n.*2537C>G) c.2249+531C>G (n.2249+531C>G) c.*2153C>G (n.*2153C>G) c.198C>G (p.Phe66Leu) c.2480+531C>G (n.2480+531C>G) c.2556C>G (p.Phe852Leu) c.2493C>G (p.Phe831Leu) n.1527C>G c.2562C>G (p.Phe854Leu) | gnomAD v4 |
1 | g.6468511G= | CA1151518701 | PLEKHG5 | c.2325C= (p.Phe775=) c.2499C= (p.Phe833=) c.2436C= (p.Phe812=) n.2801C= c.2532C= (p.Phe844=) c.2622C= (p.Phe874=) c.*2537C= (n.*2537C=) c.2249+531C= (n.2249+531C=) c.*2153C= (n.*2153C=) c.198C= (p.Phe66=) c.2480+531C= (n.2480+531C=) c.2556C= (p.Phe852=) c.2493C= (p.Phe831=) n.1527C= c.2562C= (p.Phe854=) | |
1 | g.6468511G>T | CA338117721 | PLEKHG5 | c.2325C>A (p.Phe775Leu) c.2499C>A (p.Phe833Leu) c.2436C>A (p.Phe812Leu) n.2801C>A c.2532C>A (p.Phe844Leu) c.2622C>A (p.Phe874Leu) c.*2537C>A (n.*2537C>A) c.2249+531C>A (n.2249+531C>A) c.*2153C>A (n.*2153C>A) c.198C>A (p.Phe66Leu) c.2480+531C>A (n.2480+531C>A) c.2556C>A (p.Phe852Leu) c.2493C>A (p.Phe831Leu) n.1527C>A c.2562C>A (p.Phe854Leu) | |
1 | g.6468512A>C | CA338117727 | PLEKHG5 | c.2324T>G (p.Phe775Cys) c.2498T>G (p.Phe833Cys) c.2435T>G (p.Phe812Cys) n.2800T>G c.2531T>G (p.Phe844Cys) c.2621T>G (p.Phe874Cys) c.*2536T>G (n.*2536T>G) c.2249+530T>G (n.2249+530T>G) c.*2152T>G (n.*2152T>G) c.197T>G (p.Phe66Cys) c.2480+530T>G (n.2480+530T>G) c.2555T>G (p.Phe852Cys) c.2492T>G (p.Phe831Cys) n.1526T>G c.2561T>G (p.Phe854Cys) | |
1 | g.6468512A>G | CA338117725 | PLEKHG5 | c.2324T>C (p.Phe775Ser) c.2498T>C (p.Phe833Ser) c.2435T>C (p.Phe812Ser) n.2800T>C c.2531T>C (p.Phe844Ser) c.2621T>C (p.Phe874Ser) c.*2536T>C (n.*2536T>C) c.2249+530T>C (n.2249+530T>C) c.*2152T>C (n.*2152T>C) c.197T>C (p.Phe66Ser) c.2480+530T>C (n.2480+530T>C) c.2555T>C (p.Phe852Ser) c.2492T>C (p.Phe831Ser) n.1526T>C c.2561T>C (p.Phe854Ser) | |
1 | g.6468512A>T | CA338117724 | PLEKHG5 | c.2324T>A (p.Phe775Tyr) c.2498T>A (p.Phe833Tyr) c.2435T>A (p.Phe812Tyr) n.2800T>A c.2531T>A (p.Phe844Tyr) c.2621T>A (p.Phe874Tyr) c.*2536T>A (n.*2536T>A) c.2249+530T>A (n.2249+530T>A) c.*2152T>A (n.*2152T>A) c.197T>A (p.Phe66Tyr) c.2480+530T>A (n.2480+530T>A) c.2555T>A (p.Phe852Tyr) c.2492T>A (p.Phe831Tyr) n.1526T>A c.2561T>A (p.Phe854Tyr) | |
1 | g.6468513A>C | CA338117730 | PLEKHG5 | c.2323T>G (p.Phe775Val) c.2497T>G (p.Phe833Val) c.2434T>G (p.Phe812Val) n.2799T>G c.2530T>G (p.Phe844Val) c.2620T>G (p.Phe874Val) c.*2535T>G (n.*2535T>G) c.2249+529T>G (n.2249+529T>G) c.*2151T>G (n.*2151T>G) c.196T>G (p.Phe66Val) c.2480+529T>G (n.2480+529T>G) c.2554T>G (p.Phe852Val) c.2491T>G (p.Phe831Val) n.1525T>G c.2560T>G (p.Phe854Val) | |
1 | g.6468513A>G | CA338117732 | PLEKHG5 | c.2323T>C (p.Phe775Leu) c.2497T>C (p.Phe833Leu) c.2434T>C (p.Phe812Leu) n.2799T>C c.2530T>C (p.Phe844Leu) c.2620T>C (p.Phe874Leu) c.*2535T>C (n.*2535T>C) c.2249+529T>C (n.2249+529T>C) c.*2151T>C (n.*2151T>C) c.196T>C (p.Phe66Leu) c.2480+529T>C (n.2480+529T>C) c.2554T>C (p.Phe852Leu) c.2491T>C (p.Phe831Leu) n.1525T>C c.2560T>C (p.Phe854Leu) | |
1 | g.6468513A>T | CA338117734 | PLEKHG5 | c.2323T>A (p.Phe775Ile) c.2497T>A (p.Phe833Ile) c.2434T>A (p.Phe812Ile) n.2799T>A c.2530T>A (p.Phe844Ile) c.2620T>A (p.Phe874Ile) c.*2535T>A (n.*2535T>A) c.2249+529T>A (n.2249+529T>A) c.*2151T>A (n.*2151T>A) c.196T>A (p.Phe66Ile) c.2480+529T>A (n.2480+529T>A) c.2554T>A (p.Phe852Ile) c.2491T>A (p.Phe831Ile) n.1525T>A c.2560T>A (p.Phe854Ile) | |
1 | g.6468514C>A | CA338117736 | PLEKHG5 | c.2322G>T (p.Glu774Asp) c.2496G>T (p.Glu832Asp) c.2433G>T (p.Glu811Asp) n.2798G>T c.2529G>T (p.Glu843Asp) c.2619G>T (p.Glu873Asp) c.*2534G>T (n.*2534G>T) c.2249+528G>T (n.2249+528G>T) c.*2150G>T (n.*2150G>T) c.195G>T (p.Glu65Asp) c.2480+528G>T (n.2480+528G>T) c.2553G>T (p.Glu851Asp) c.2490G>T (p.Glu830Asp) n.1524G>T c.2559G>T (p.Glu853Asp) | |
1 | g.6468514C>G | CA338117737 | PLEKHG5 | c.2322G>C (p.Glu774Asp) c.2496G>C (p.Glu832Asp) c.2433G>C (p.Glu811Asp) n.2798G>C c.2529G>C (p.Glu843Asp) c.2619G>C (p.Glu873Asp) c.*2534G>C (n.*2534G>C) c.2249+528G>C (n.2249+528G>C) c.*2150G>C (n.*2150G>C) c.195G>C (p.Glu65Asp) c.2480+528G>C (n.2480+528G>C) c.2553G>C (p.Glu851Asp) c.2490G>C (p.Glu830Asp) n.1524G>C c.2559G>C (p.Glu853Asp) | |
1 | g.6468514C>T | CA416022208 | PLEKHG5 | c.2322G>A (p.Glu774=) c.2496G>A (p.Glu832=) c.2433G>A (p.Glu811=) n.2798G>A c.2529G>A (p.Glu843=) c.2619G>A (p.Glu873=) c.*2534G>A (n.*2534G>A) c.2249+528G>A (n.2249+528G>A) c.*2150G>A (n.*2150G>A) c.195G>A (p.Glu65=) c.2480+528G>A (n.2480+528G>A) c.2553G>A (p.Glu851=) c.2490G>A (p.Glu830=) n.1524G>A c.2559G>A (p.Glu853=) | |
1 | g.6468515T>A | CA338117738 | PLEKHG5 | c.2321A>T (p.Glu774Val) c.2495A>T (p.Glu832Val) c.2432A>T (p.Glu811Val) n.2797A>T c.2528A>T (p.Glu843Val) c.2618A>T (p.Glu873Val) c.*2533A>T (n.*2533A>T) c.2249+527A>T (n.2249+527A>T) c.*2149A>T (n.*2149A>T) c.194A>T (p.Glu65Val) c.2480+527A>T (n.2480+527A>T) c.2552A>T (p.Glu851Val) c.2489A>T (p.Glu830Val) n.1523A>T c.2558A>T (p.Glu853Val) | |
1 | g.6468515T>C | CA338117740 | PLEKHG5 | c.2321A>G (p.Glu774Gly) c.2495A>G (p.Glu832Gly) c.2432A>G (p.Glu811Gly) n.2797A>G c.2528A>G (p.Glu843Gly) c.2618A>G (p.Glu873Gly) c.*2533A>G (n.*2533A>G) c.2249+527A>G (n.2249+527A>G) c.*2149A>G (n.*2149A>G) c.194A>G (p.Glu65Gly) c.2480+527A>G (n.2480+527A>G) c.2552A>G (p.Glu851Gly) c.2489A>G (p.Glu830Gly) n.1523A>G c.2558A>G (p.Glu853Gly) | |
1 | g.6468515T>G | CA338117742 | PLEKHG5 | c.2321A>C (p.Glu774Ala) c.2495A>C (p.Glu832Ala) c.2432A>C (p.Glu811Ala) n.2797A>C c.2528A>C (p.Glu843Ala) c.2618A>C (p.Glu873Ala) c.*2533A>C (n.*2533A>C) c.2249+527A>C (n.2249+527A>C) c.*2149A>C (n.*2149A>C) c.194A>C (p.Glu65Ala) c.2480+527A>C (n.2480+527A>C) c.2552A>C (p.Glu851Ala) c.2489A>C (p.Glu830Ala) n.1523A>C c.2558A>C (p.Glu853Ala) | gnomAD v4 |
1 | g.6468516C>A | CA338117746 | PLEKHG5 | c.2320G>T (p.Glu774Ter) c.2494G>T (p.Glu832Ter) c.2431G>T (p.Glu811Ter) n.2796G>T c.2527G>T (p.Glu843Ter) c.2617G>T (p.Glu873Ter) c.*2532G>T (n.*2532G>T) c.2249+526G>T (n.2249+526G>T) c.*2148G>T (n.*2148G>T) c.193G>T (p.Glu65Ter) c.2480+526G>T (n.2480+526G>T) c.2551G>T (p.Glu851Ter) c.2488G>T (p.Glu830Ter) n.1522G>T c.2557G>T (p.Glu853Ter) | |
1 | g.6468516C= | CA1151518708 | PLEKHG5 | c.2320G= (p.Glu774=) c.2494G= (p.Glu832=) c.2431G= (p.Glu811=) n.2796G= c.2527G= (p.Glu843=) c.2617G= (p.Glu873=) c.*2532G= (n.*2532G=) c.2249+526G= (n.2249+526G=) c.*2148G= (n.*2148G=) c.193G= (p.Glu65=) c.2480+526G= (n.2480+526G=) c.2551G= (p.Glu851=) c.2488G= (p.Glu830=) n.1522G= c.2557G= (p.Glu853=) | |
1 | g.6468516C>G | CA338117748 | PLEKHG5 | c.2320G>C (p.Glu774Gln) c.2494G>C (p.Glu832Gln) c.2431G>C (p.Glu811Gln) n.2796G>C c.2527G>C (p.Glu843Gln) c.2617G>C (p.Glu873Gln) c.*2532G>C (n.*2532G>C) c.2249+526G>C (n.2249+526G>C) c.*2148G>C (n.*2148G>C) c.193G>C (p.Glu65Gln) c.2480+526G>C (n.2480+526G>C) c.2551G>C (p.Glu851Gln) c.2488G>C (p.Glu830Gln) n.1522G>C c.2557G>C (p.Glu853Gln) | gnomAD v4 |
1 | g.6468516C>T | CA561185 | PLEKHG5 | c.2320G>A (p.Glu774Lys) c.2494G>A (p.Glu832Lys) c.2431G>A (p.Glu811Lys) n.2796G>A c.2527G>A (p.Glu843Lys) c.2617G>A (p.Glu873Lys) c.*2532G>A (n.*2532G>A) c.2249+526G>A (n.2249+526G>A) c.*2148G>A (n.*2148G>A) c.193G>A (p.Glu65Lys) c.2480+526G>A (n.2480+526G>A) c.2551G>A (p.Glu851Lys) c.2488G>A (p.Glu830Lys) n.1522G>A c.2557G>A (p.Glu853Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468517G>A | CA561186 | PLEKHG5 | c.2319C>T (p.Pro773=) c.2493C>T (p.Pro831=) c.2430C>T (p.Pro810=) n.2795C>T c.2526C>T (p.Pro842=) c.2616C>T (p.Pro872=) c.*2531C>T (n.*2531C>T) c.2249+525C>T (n.2249+525C>T) c.*2147C>T (n.*2147C>T) c.192C>T (p.Pro64=) c.2480+525C>T (n.2480+525C>T) c.2550C>T (p.Pro850=) c.2487C>T (p.Pro829=) n.1521C>T c.2556C>T (p.Pro852=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468517G>C | CA561187 | PLEKHG5 | c.2319C>G (p.Pro773=) c.2493C>G (p.Pro831=) c.2430C>G (p.Pro810=) n.2795C>G c.2526C>G (p.Pro842=) c.2616C>G (p.Pro872=) c.*2531C>G (n.*2531C>G) c.2249+525C>G (n.2249+525C>G) c.*2147C>G (n.*2147C>G) c.192C>G (p.Pro64=) c.2480+525C>G (n.2480+525C>G) c.2550C>G (p.Pro850=) c.2487C>G (p.Pro829=) n.1521C>G c.2556C>G (p.Pro852=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468517G= | CA1141171604 | PLEKHG5 | c.2319C= (p.Pro773=) c.2493C= (p.Pro831=) c.2430C= (p.Pro810=) n.2795C= c.2526C= (p.Pro842=) c.2616C= (p.Pro872=) c.*2531C= (n.*2531C=) c.2249+525C= (n.2249+525C=) c.*2147C= (n.*2147C=) c.192C= (p.Pro64=) c.2480+525C= (n.2480+525C=) c.2550C= (p.Pro850=) c.2487C= (p.Pro829=) n.1521C= c.2556C= (p.Pro852=) | |
1 | g.6468517G>T | CA416022219 | PLEKHG5 | c.2319C>A (p.Pro773=) c.2493C>A (p.Pro831=) c.2430C>A (p.Pro810=) n.2795C>A c.2526C>A (p.Pro842=) c.2616C>A (p.Pro872=) c.*2531C>A (n.*2531C>A) c.2249+525C>A (n.2249+525C>A) c.*2147C>A (n.*2147C>A) c.192C>A (p.Pro64=) c.2480+525C>A (n.2480+525C>A) c.2550C>A (p.Pro850=) c.2487C>A (p.Pro829=) n.1521C>A c.2556C>A (p.Pro852=) | gnomAD v4 |
1 | g.6468521dup | CA2742316289 | PLEKHG5 | c.2319dup (p.Glu774ArgfsTer12) c.2493dup (p.Glu832ArgfsTer12) c.2430dup (p.Glu811ArgfsTer12) n.2795dup c.2526dup (p.Glu843ArgfsTer12) c.2616dup (p.Glu873ArgfsTer12) c.*2531dup (n.*2531dup) c.2249+525dup (n.2249+525dup) c.*2147dup (n.*2147dup) c.192dup (p.Glu65ArgfsTer12) c.2480+525dup (n.2480+525dup) c.2550dup (p.Glu851ArgfsTer12) c.2487dup (p.Glu830ArgfsTer12) n.1521dup c.2556dup (p.Glu853ArgfsTer12) | |
1 | g.6468518G>A | CA338117755 | PLEKHG5 | c.2318C>T (p.Pro773Leu) c.2492C>T (p.Pro831Leu) c.2429C>T (p.Pro810Leu) n.2794C>T c.2525C>T (p.Pro842Leu) c.2615C>T (p.Pro872Leu) c.*2530C>T (n.*2530C>T) c.2249+524C>T (n.2249+524C>T) c.*2146C>T (n.*2146C>T) c.191C>T (p.Pro64Leu) c.2480+524C>T (n.2480+524C>T) c.2549C>T (p.Pro850Leu) c.2486C>T (p.Pro829Leu) n.1520C>T c.2555C>T (p.Pro852Leu) | |
1 | g.6468518G>C | CA338117756 | PLEKHG5 | c.2318C>G (p.Pro773Arg) c.2492C>G (p.Pro831Arg) c.2429C>G (p.Pro810Arg) n.2794C>G c.2525C>G (p.Pro842Arg) c.2615C>G (p.Pro872Arg) c.*2530C>G (n.*2530C>G) c.2249+524C>G (n.2249+524C>G) c.*2146C>G (n.*2146C>G) c.191C>G (p.Pro64Arg) c.2480+524C>G (n.2480+524C>G) c.2549C>G (p.Pro850Arg) c.2486C>G (p.Pro829Arg) n.1520C>G c.2555C>G (p.Pro852Arg) | gnomAD v4 |
1 | g.6468518G>T | CA338117754 | PLEKHG5 | c.2318C>A (p.Pro773His) c.2492C>A (p.Pro831His) c.2429C>A (p.Pro810His) n.2794C>A c.2525C>A (p.Pro842His) c.2615C>A (p.Pro872His) c.*2530C>A (n.*2530C>A) c.2249+524C>A (n.2249+524C>A) c.*2146C>A (n.*2146C>A) c.191C>A (p.Pro64His) c.2480+524C>A (n.2480+524C>A) c.2549C>A (p.Pro850His) c.2486C>A (p.Pro829His) n.1520C>A c.2555C>A (p.Pro852His) | |
1 | g.6468519G>A | CA338117757 | PLEKHG5 | c.2317C>T (p.Pro773Ser) c.2491C>T (p.Pro831Ser) c.2428C>T (p.Pro810Ser) n.2793C>T c.2524C>T (p.Pro842Ser) c.2614C>T (p.Pro872Ser) c.*2529C>T (n.*2529C>T) c.2249+523C>T (n.2249+523C>T) c.*2145C>T (n.*2145C>T) c.190C>T (p.Pro64Ser) c.2480+523C>T (n.2480+523C>T) c.2548C>T (p.Pro850Ser) c.2485C>T (p.Pro829Ser) n.1519C>T c.2554C>T (p.Pro852Ser) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6468519G>C | CA338117759 | PLEKHG5 | c.2317C>G (p.Pro773Ala) c.2491C>G (p.Pro831Ala) c.2428C>G (p.Pro810Ala) n.2793C>G c.2524C>G (p.Pro842Ala) c.2614C>G (p.Pro872Ala) c.*2529C>G (n.*2529C>G) c.2249+523C>G (n.2249+523C>G) c.*2145C>G (n.*2145C>G) c.190C>G (p.Pro64Ala) c.2480+523C>G (n.2480+523C>G) c.2548C>G (p.Pro850Ala) c.2485C>G (p.Pro829Ala) n.1519C>G c.2554C>G (p.Pro852Ala) | |
1 | g.6468519G= | CA1151518717 | PLEKHG5 | c.2317C= (p.Pro773=) c.2491C= (p.Pro831=) c.2428C= (p.Pro810=) n.2793C= c.2524C= (p.Pro842=) c.2614C= (p.Pro872=) c.*2529C= (n.*2529C=) c.2249+523C= (n.2249+523C=) c.*2145C= (n.*2145C=) c.190C= (p.Pro64=) c.2480+523C= (n.2480+523C=) c.2548C= (p.Pro850=) c.2485C= (p.Pro829=) n.1519C= c.2554C= (p.Pro852=) | |
1 | g.6468519G>T | CA338117758 | PLEKHG5 | c.2317C>A (p.Pro773Thr) c.2491C>A (p.Pro831Thr) c.2428C>A (p.Pro810Thr) n.2793C>A c.2524C>A (p.Pro842Thr) c.2614C>A (p.Pro872Thr) c.*2529C>A (n.*2529C>A) c.2249+523C>A (n.2249+523C>A) c.*2145C>A (n.*2145C>A) c.190C>A (p.Pro64Thr) c.2480+523C>A (n.2480+523C>A) c.2548C>A (p.Pro850Thr) c.2485C>A (p.Pro829Thr) n.1519C>A c.2554C>A (p.Pro852Thr) | |
1 | g.6468520G>A | CA416022224 | PLEKHG5 | c.2316C>T (p.Ser772=) c.2490C>T (p.Ser830=) c.2427C>T (p.Ser809=) n.2792C>T c.2523C>T (p.Ser841=) c.2613C>T (p.Ser871=) c.*2528C>T (n.*2528C>T) c.2249+522C>T (n.2249+522C>T) c.*2144C>T (n.*2144C>T) c.189C>T (p.Ser63=) c.2480+522C>T (n.2480+522C>T) c.2547C>T (p.Ser849=) c.2484C>T (p.Ser828=) n.1518C>T c.2553C>T (p.Ser851=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468520G>C | CA416022227 | PLEKHG5 | c.2316C>G (p.Ser772=) c.2490C>G (p.Ser830=) c.2427C>G (p.Ser809=) n.2792C>G c.2523C>G (p.Ser841=) c.2613C>G (p.Ser871=) c.*2528C>G (n.*2528C>G) c.2249+522C>G (n.2249+522C>G) c.*2144C>G (n.*2144C>G) c.189C>G (p.Ser63=) c.2480+522C>G (n.2480+522C>G) c.2547C>G (p.Ser849=) c.2484C>G (p.Ser828=) n.1518C>G c.2553C>G (p.Ser851=) | |
1 | g.6468520G= | CA1151518731 | PLEKHG5 | c.2316C= (p.Ser772=) c.2490C= (p.Ser830=) c.2427C= (p.Ser809=) n.2792C= c.2523C= (p.Ser841=) c.2613C= (p.Ser871=) c.*2528C= (n.*2528C=) c.2249+522C= (n.2249+522C=) c.*2144C= (n.*2144C=) c.189C= (p.Ser63=) c.2480+522C= (n.2480+522C=) c.2547C= (p.Ser849=) c.2484C= (p.Ser828=) n.1518C= c.2553C= (p.Ser851=) | |
1 | g.6468520G>T | CA416022226 | PLEKHG5 | c.2316C>A (p.Ser772=) c.2490C>A (p.Ser830=) c.2427C>A (p.Ser809=) n.2792C>A c.2523C>A (p.Ser841=) c.2613C>A (p.Ser871=) c.*2528C>A (n.*2528C>A) c.2249+522C>A (n.2249+522C>A) c.*2144C>A (n.*2144C>A) c.189C>A (p.Ser63=) c.2480+522C>A (n.2480+522C>A) c.2547C>A (p.Ser849=) c.2484C>A (p.Ser828=) n.1518C>A c.2553C>A (p.Ser851=) | ClinVar |
1 | g.6468521G>A | CA338117760 | PLEKHG5 | c.2315C>T (p.Ser772Phe) c.2489C>T (p.Ser830Phe) c.2426C>T (p.Ser809Phe) n.2791C>T c.2522C>T (p.Ser841Phe) c.2612C>T (p.Ser871Phe) c.*2527C>T (n.*2527C>T) c.2249+521C>T (n.2249+521C>T) c.*2143C>T (n.*2143C>T) c.188C>T (p.Ser63Phe) c.2480+521C>T (n.2480+521C>T) c.2546C>T (p.Ser849Phe) c.2483C>T (p.Ser828Phe) n.1517C>T c.2552C>T (p.Ser851Phe) | gnomAD v4 |
1 | g.6468521G>C | CA338117761 | PLEKHG5 | c.2315C>G (p.Ser772Cys) c.2489C>G (p.Ser830Cys) c.2426C>G (p.Ser809Cys) n.2791C>G c.2522C>G (p.Ser841Cys) c.2612C>G (p.Ser871Cys) c.*2527C>G (n.*2527C>G) c.2249+521C>G (n.2249+521C>G) c.*2143C>G (n.*2143C>G) c.188C>G (p.Ser63Cys) c.2480+521C>G (n.2480+521C>G) c.2546C>G (p.Ser849Cys) c.2483C>G (p.Ser828Cys) n.1517C>G c.2552C>G (p.Ser851Cys) | |
1 | g.6468521G>T | CA338117762 | PLEKHG5 | c.2315C>A (p.Ser772Tyr) c.2489C>A (p.Ser830Tyr) c.2426C>A (p.Ser809Tyr) n.2791C>A c.2522C>A (p.Ser841Tyr) c.2612C>A (p.Ser871Tyr) c.*2527C>A (n.*2527C>A) c.2249+521C>A (n.2249+521C>A) c.*2143C>A (n.*2143C>A) c.188C>A (p.Ser63Tyr) c.2480+521C>A (n.2480+521C>A) c.2546C>A (p.Ser849Tyr) c.2483C>A (p.Ser828Tyr) n.1517C>A c.2552C>A (p.Ser851Tyr) | |
1 | g.6468522A>C | CA338117763 | PLEKHG5 | c.2314T>G (p.Ser772Ala) c.2488T>G (p.Ser830Ala) c.2425T>G (p.Ser809Ala) n.2790T>G c.2521T>G (p.Ser841Ala) c.2611T>G (p.Ser871Ala) c.*2526T>G (n.*2526T>G) c.2249+520T>G (n.2249+520T>G) c.*2142T>G (n.*2142T>G) c.187T>G (p.Ser63Ala) c.2480+520T>G (n.2480+520T>G) c.2545T>G (p.Ser849Ala) c.2482T>G (p.Ser828Ala) n.1516T>G c.2551T>G (p.Ser851Ala) | |
1 | g.6468522A>G | CA338117764 | PLEKHG5 | c.2314T>C (p.Ser772Pro) c.2488T>C (p.Ser830Pro) c.2425T>C (p.Ser809Pro) n.2790T>C c.2521T>C (p.Ser841Pro) c.2611T>C (p.Ser871Pro) c.*2526T>C (n.*2526T>C) c.2249+520T>C (n.2249+520T>C) c.*2142T>C (n.*2142T>C) c.187T>C (p.Ser63Pro) c.2480+520T>C (n.2480+520T>C) c.2545T>C (p.Ser849Pro) c.2482T>C (p.Ser828Pro) n.1516T>C c.2551T>C (p.Ser851Pro) | |
1 | g.6468522A>T | CA338117765 | PLEKHG5 | c.2314T>A (p.Ser772Thr) c.2488T>A (p.Ser830Thr) c.2425T>A (p.Ser809Thr) n.2790T>A c.2521T>A (p.Ser841Thr) c.2611T>A (p.Ser871Thr) c.*2526T>A (n.*2526T>A) c.2249+520T>A (n.2249+520T>A) c.*2142T>A (n.*2142T>A) c.187T>A (p.Ser63Thr) c.2480+520T>A (n.2480+520T>A) c.2545T>A (p.Ser849Thr) c.2482T>A (p.Ser828Thr) n.1516T>A c.2551T>A (p.Ser851Thr) | |
1 | g.6468523G>A | CA416022233 | PLEKHG5 | c.2313C>T (p.Ser771=) c.2487C>T (p.Ser829=) c.2424C>T (p.Ser808=) n.2789C>T c.2520C>T (p.Ser840=) c.2610C>T (p.Ser870=) c.*2525C>T (n.*2525C>T) c.2249+519C>T (n.2249+519C>T) c.*2141C>T (n.*2141C>T) c.186C>T (p.Ser62=) c.2480+519C>T (n.2480+519C>T) c.2544C>T (p.Ser848=) c.2481C>T (p.Ser827=) n.1515C>T c.2550C>T (p.Ser850=) | |
1 | g.6468523G>C | CA416022237 | PLEKHG5 | c.2313C>G (p.Ser771=) c.2487C>G (p.Ser829=) c.2424C>G (p.Ser808=) n.2789C>G c.2520C>G (p.Ser840=) c.2610C>G (p.Ser870=) c.*2525C>G (n.*2525C>G) c.2249+519C>G (n.2249+519C>G) c.*2141C>G (n.*2141C>G) c.186C>G (p.Ser62=) c.2480+519C>G (n.2480+519C>G) c.2544C>G (p.Ser848=) c.2481C>G (p.Ser827=) n.1515C>G c.2550C>G (p.Ser850=) | |
1 | g.6468523G>T | CA416022238 | PLEKHG5 | c.2313C>A (p.Ser771=) c.2487C>A (p.Ser829=) c.2424C>A (p.Ser808=) n.2789C>A c.2520C>A (p.Ser840=) c.2610C>A (p.Ser870=) c.*2525C>A (n.*2525C>A) c.2249+519C>A (n.2249+519C>A) c.*2141C>A (n.*2141C>A) c.186C>A (p.Ser62=) c.2480+519C>A (n.2480+519C>A) c.2544C>A (p.Ser848=) c.2481C>A (p.Ser827=) n.1515C>A c.2550C>A (p.Ser850=) | |
1 | g.6468524G>A | CA338117766 | PLEKHG5 | c.2312C>T (p.Ser771Phe) c.2486C>T (p.Ser829Phe) c.2423C>T (p.Ser808Phe) n.2788C>T c.2519C>T (p.Ser840Phe) c.2609C>T (p.Ser870Phe) c.*2524C>T (n.*2524C>T) c.2249+518C>T (n.2249+518C>T) c.*2140C>T (n.*2140C>T) c.185C>T (p.Ser62Phe) c.2480+518C>T (n.2480+518C>T) c.2543C>T (p.Ser848Phe) c.2480C>T (p.Ser827Phe) n.1514C>T c.2549C>T (p.Ser850Phe) | dbSNP |
1 | g.6468524G>C | CA338117767 | PLEKHG5 | c.2312C>G (p.Ser771Cys) c.2486C>G (p.Ser829Cys) c.2423C>G (p.Ser808Cys) n.2788C>G c.2519C>G (p.Ser840Cys) c.2609C>G (p.Ser870Cys) c.*2524C>G (n.*2524C>G) c.2249+518C>G (n.2249+518C>G) c.*2140C>G (n.*2140C>G) c.185C>G (p.Ser62Cys) c.2480+518C>G (n.2480+518C>G) c.2543C>G (p.Ser848Cys) c.2480C>G (p.Ser827Cys) n.1514C>G c.2549C>G (p.Ser850Cys) | |
1 | g.6468524G= | CA1151518740 | PLEKHG5 | c.2312C= (p.Ser771=) c.2486C= (p.Ser829=) c.2423C= (p.Ser808=) n.2788C= c.2519C= (p.Ser840=) c.2609C= (p.Ser870=) c.*2524C= (n.*2524C=) c.2249+518C= (n.2249+518C=) c.*2140C= (n.*2140C=) c.185C= (p.Ser62=) c.2480+518C= (n.2480+518C=) c.2543C= (p.Ser848=) c.2480C= (p.Ser827=) n.1514C= c.2549C= (p.Ser850=) | |
1 | g.6468524G>T | CA338117768 | PLEKHG5 | c.2312C>A (p.Ser771Tyr) c.2486C>A (p.Ser829Tyr) c.2423C>A (p.Ser808Tyr) n.2788C>A c.2519C>A (p.Ser840Tyr) c.2609C>A (p.Ser870Tyr) c.*2524C>A (n.*2524C>A) c.2249+518C>A (n.2249+518C>A) c.*2140C>A (n.*2140C>A) c.185C>A (p.Ser62Tyr) c.2480+518C>A (n.2480+518C>A) c.2543C>A (p.Ser848Tyr) c.2480C>A (p.Ser827Tyr) n.1514C>A c.2549C>A (p.Ser850Tyr) | ClinVar dbSNP |
1 | g.6468525A>C | CA338117769 | PLEKHG5 | c.2311T>G (p.Ser771Ala) c.2485T>G (p.Ser829Ala) c.2422T>G (p.Ser808Ala) n.2787T>G c.2518T>G (p.Ser840Ala) c.2608T>G (p.Ser870Ala) c.*2523T>G (n.*2523T>G) c.2249+517T>G (n.2249+517T>G) c.*2139T>G (n.*2139T>G) c.184T>G (p.Ser62Ala) c.2480+517T>G (n.2480+517T>G) c.2542T>G (p.Ser848Ala) c.2479T>G (p.Ser827Ala) n.1513T>G c.2548T>G (p.Ser850Ala) | |
1 | g.6468525A>G | CA338117770 | PLEKHG5 | c.2311T>C (p.Ser771Pro) c.2485T>C (p.Ser829Pro) c.2422T>C (p.Ser808Pro) n.2787T>C c.2518T>C (p.Ser840Pro) c.2608T>C (p.Ser870Pro) c.*2523T>C (n.*2523T>C) c.2249+517T>C (n.2249+517T>C) c.*2139T>C (n.*2139T>C) c.184T>C (p.Ser62Pro) c.2480+517T>C (n.2480+517T>C) c.2542T>C (p.Ser848Pro) c.2479T>C (p.Ser827Pro) n.1513T>C c.2548T>C (p.Ser850Pro) | |
1 | g.6468525A>T | CA338117771 | PLEKHG5 | c.2311T>A (p.Ser771Thr) c.2485T>A (p.Ser829Thr) c.2422T>A (p.Ser808Thr) n.2787T>A c.2518T>A (p.Ser840Thr) c.2608T>A (p.Ser870Thr) c.*2523T>A (n.*2523T>A) c.2249+517T>A (n.2249+517T>A) c.*2139T>A (n.*2139T>A) c.184T>A (p.Ser62Thr) c.2480+517T>A (n.2480+517T>A) c.2542T>A (p.Ser848Thr) c.2479T>A (p.Ser827Thr) n.1513T>A c.2548T>A (p.Ser850Thr) | |
1 | g.6468526C>A | CA416022243 | PLEKHG5 | c.2310G>T (p.Leu770=) c.2484G>T (p.Leu828=) c.2421G>T (p.Leu807=) n.2786G>T c.2517G>T (p.Leu839=) c.2607G>T (p.Leu869=) c.*2522G>T (n.*2522G>T) c.2249+516G>T (n.2249+516G>T) c.*2138G>T (n.*2138G>T) c.183G>T (p.Leu61=) c.2480+516G>T (n.2480+516G>T) c.2541G>T (p.Leu847=) c.2478G>T (p.Leu826=) n.1512G>T c.2547G>T (p.Leu849=) | |
1 | g.6468526C>G | CA416022244 | PLEKHG5 | c.2310G>C (p.Leu770=) c.2484G>C (p.Leu828=) c.2421G>C (p.Leu807=) n.2786G>C c.2517G>C (p.Leu839=) c.2607G>C (p.Leu869=) c.*2522G>C (n.*2522G>C) c.2249+516G>C (n.2249+516G>C) c.*2138G>C (n.*2138G>C) c.183G>C (p.Leu61=) c.2480+516G>C (n.2480+516G>C) c.2541G>C (p.Leu847=) c.2478G>C (p.Leu826=) n.1512G>C c.2547G>C (p.Leu849=) | gnomAD v4 |
1 | g.6468526C>T | CA416022246 | PLEKHG5 | c.2310G>A (p.Leu770=) c.2484G>A (p.Leu828=) c.2421G>A (p.Leu807=) n.2786G>A c.2517G>A (p.Leu839=) c.2607G>A (p.Leu869=) c.*2522G>A (n.*2522G>A) c.2249+516G>A (n.2249+516G>A) c.*2138G>A (n.*2138G>A) c.183G>A (p.Leu61=) c.2480+516G>A (n.2480+516G>A) c.2541G>A (p.Leu847=) c.2478G>A (p.Leu826=) n.1512G>A c.2547G>A (p.Leu849=) | |
1 | g.6468527A>C | CA338117774 | PLEKHG5 | c.2309T>G (p.Leu770Arg) c.2483T>G (p.Leu828Arg) c.2420T>G (p.Leu807Arg) n.2785T>G c.2516T>G (p.Leu839Arg) c.2606T>G (p.Leu869Arg) c.*2521T>G (n.*2521T>G) c.2249+515T>G (n.2249+515T>G) c.*2137T>G (n.*2137T>G) c.182T>G (p.Leu61Arg) c.2480+515T>G (n.2480+515T>G) c.2540T>G (p.Leu847Arg) c.2477T>G (p.Leu826Arg) n.1511T>G c.2546T>G (p.Leu849Arg) | |
1 | g.6468527A>G | CA338117772 | PLEKHG5 | c.2309T>C (p.Leu770Pro) c.2483T>C (p.Leu828Pro) c.2420T>C (p.Leu807Pro) n.2785T>C c.2516T>C (p.Leu839Pro) c.2606T>C (p.Leu869Pro) c.*2521T>C (n.*2521T>C) c.2249+515T>C (n.2249+515T>C) c.*2137T>C (n.*2137T>C) c.182T>C (p.Leu61Pro) c.2480+515T>C (n.2480+515T>C) c.2540T>C (p.Leu847Pro) c.2477T>C (p.Leu826Pro) n.1511T>C c.2546T>C (p.Leu849Pro) | |
1 | g.6468527A>T | CA338117773 | PLEKHG5 | c.2309T>A (p.Leu770Gln) c.2483T>A (p.Leu828Gln) c.2420T>A (p.Leu807Gln) n.2785T>A c.2516T>A (p.Leu839Gln) c.2606T>A (p.Leu869Gln) c.*2521T>A (n.*2521T>A) c.2249+515T>A (n.2249+515T>A) c.*2137T>A (n.*2137T>A) c.182T>A (p.Leu61Gln) c.2480+515T>A (n.2480+515T>A) c.2540T>A (p.Leu847Gln) c.2477T>A (p.Leu826Gln) n.1511T>A c.2546T>A (p.Leu849Gln) | |
1 | g.6468527_6468529delinsAGC | CA1151518751 | PLEKHG5 | c.2307_2309delinsGCT (p.Thr769=) c.2481_2483delinsGCT (p.Thr827=) c.2418_2420delinsGCT (p.Thr806=) n.2783_2785delinsGCT c.2514_2516delinsGCT (p.Thr838=) c.2604_2606delinsGCT (p.Thr868=) c.*2519_*2521delinsGCT (n.*2519_*2521delinsGCT) c.2249+513_2249+515delinsGCT (n.2249+513_2249+515delinsGCT) c.*2135_*2137delinsGCT (n.*2135_*2137delinsGCT) c.180_182delinsGCT (p.Thr60=) c.2480+513_2480+515delinsGCT (n.2480+513_2480+515delinsGCT) c.2538_2540delinsGCT (p.Thr846=) c.2475_2477delinsGCT (p.Thr825=) n.1509_1511delinsGCT c.2544_2546delinsGCT (p.Thr848=) | |
1 | g.6468528G>A | CA416022252 | PLEKHG5 | c.2308C>T (p.Leu770=) c.2482C>T (p.Leu828=) c.2419C>T (p.Leu807=) n.2784C>T c.2515C>T (p.Leu839=) c.2605C>T (p.Leu869=) c.*2520C>T (n.*2520C>T) c.2249+514C>T (n.2249+514C>T) c.*2136C>T (n.*2136C>T) c.181C>T (p.Leu61=) c.2480+514C>T (n.2480+514C>T) c.2539C>T (p.Leu847=) c.2476C>T (p.Leu826=) n.1510C>T c.2545C>T (p.Leu849=) | |
1 | g.6468528G>C | CA338117775 | PLEKHG5 | c.2308C>G (p.Leu770Val) c.2482C>G (p.Leu828Val) c.2419C>G (p.Leu807Val) n.2784C>G c.2515C>G (p.Leu839Val) c.2605C>G (p.Leu869Val) c.*2520C>G (n.*2520C>G) c.2249+514C>G (n.2249+514C>G) c.*2136C>G (n.*2136C>G) c.181C>G (p.Leu61Val) c.2480+514C>G (n.2480+514C>G) c.2539C>G (p.Leu847Val) c.2476C>G (p.Leu826Val) n.1510C>G c.2545C>G (p.Leu849Val) | |
1 | g.6468528G= | CA1151518764 | PLEKHG5 | c.2308C= (p.Leu770=) c.2482C= (p.Leu828=) c.2419C= (p.Leu807=) n.2784C= c.2515C= (p.Leu839=) c.2605C= (p.Leu869=) c.*2520C= (n.*2520C=) c.2249+514C= (n.2249+514C=) c.*2136C= (n.*2136C=) c.181C= (p.Leu61=) c.2480+514C= (n.2480+514C=) c.2539C= (p.Leu847=) c.2476C= (p.Leu826=) n.1510C= c.2545C= (p.Leu849=) | |
1 | g.6468528G>T | CA338117776 | PLEKHG5 | c.2308C>A (p.Leu770Met) c.2482C>A (p.Leu828Met) c.2419C>A (p.Leu807Met) n.2784C>A c.2515C>A (p.Leu839Met) c.2605C>A (p.Leu869Met) c.*2520C>A (n.*2520C>A) c.2249+514C>A (n.2249+514C>A) c.*2136C>A (n.*2136C>A) c.181C>A (p.Leu61Met) c.2480+514C>A (n.2480+514C>A) c.2539C>A (p.Leu847Met) c.2476C>A (p.Leu826Met) n.1510C>A c.2545C>A (p.Leu849Met) | dbSNP gnomAD v2 |
1 | g.6468529_6468530del | CA998186196 | PLEKHG5 | c.2307_2308del (p.Leu770ValfsTer15) c.2481_2482del (p.Leu828ValfsTer15) c.2418_2419del (p.Leu807ValfsTer15) n.2783_2784del c.2514_2515del (p.Leu839ValfsTer15) c.2604_2605del (p.Leu869ValfsTer15) c.*2519_*2520del (n.*2519_*2520del) c.2249+513_2249+514del (n.2249+513_2249+514del) c.*2135_*2136del (n.*2135_*2136del) c.180_181del (p.Leu61ValfsTer15) c.2480+513_2480+514del (n.2480+513_2480+514del) c.2538_2539del (p.Leu847ValfsTer15) c.2475_2476del (p.Leu826ValfsTer15) n.1509_1510del c.2544_2545del (p.Leu849ValfsTer15) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6468529C>A | CA416022254 | PLEKHG5 | c.2307G>T (p.Thr769=) c.2481G>T (p.Thr827=) c.2418G>T (p.Thr806=) n.2783G>T c.2514G>T (p.Thr838=) c.2604G>T (p.Thr868=) c.*2519G>T (n.*2519G>T) c.2249+513G>T (n.2249+513G>T) c.*2135G>T (n.*2135G>T) c.180G>T (p.Thr60=) c.2480+513G>T (n.2480+513G>T) c.2538G>T (p.Thr846=) c.2475G>T (p.Thr825=) n.1509G>T c.2544G>T (p.Thr848=) | gnomAD v4 |
1 | g.6468529C= | CA1139988440 | PLEKHG5 | c.2307G= (p.Thr769=) c.2481G= (p.Thr827=) c.2418G= (p.Thr806=) n.2783G= c.2514G= (p.Thr838=) c.2604G= (p.Thr868=) c.*2519G= (n.*2519G=) c.2249+513G= (n.2249+513G=) c.*2135G= (n.*2135G=) c.180G= (p.Thr60=) c.2480+513G= (n.2480+513G=) c.2538G= (p.Thr846=) c.2475G= (p.Thr825=) n.1509G= c.2544G= (p.Thr848=) | |
1 | g.6468529C>G | CA416022255 | PLEKHG5 | c.2307G>C (p.Thr769=) c.2481G>C (p.Thr827=) c.2418G>C (p.Thr806=) n.2783G>C c.2514G>C (p.Thr838=) c.2604G>C (p.Thr868=) c.*2519G>C (n.*2519G>C) c.2249+513G>C (n.2249+513G>C) c.*2135G>C (n.*2135G>C) c.180G>C (p.Thr60=) c.2480+513G>C (n.2480+513G>C) c.2538G>C (p.Thr846=) c.2475G>C (p.Thr825=) n.1509G>C c.2544G>C (p.Thr848=) | |
1 | g.6468529C>T | CA561188 | PLEKHG5 | c.2307G>A (p.Thr769=) c.2481G>A (p.Thr827=) c.2418G>A (p.Thr806=) n.2783G>A c.2514G>A (p.Thr838=) c.2604G>A (p.Thr868=) c.*2519G>A (n.*2519G>A) c.2249+513G>A (n.2249+513G>A) c.*2135G>A (n.*2135G>A) c.180G>A (p.Thr60=) c.2480+513G>A (n.2480+513G>A) c.2538G>A (p.Thr846=) c.2475G>A (p.Thr825=) n.1509G>A c.2544G>A (p.Thr848=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468530G>A | CA17234404 | PLEKHG5 | c.2306C>T (p.Thr769Met) c.2480C>T (p.Thr827Met) c.2417C>T (p.Thr806Met) n.2782C>T c.2513C>T (p.Thr838Met) c.2603C>T (p.Thr868Met) c.*2518C>T (n.*2518C>T) c.2249+512C>T (n.2249+512C>T) c.*2134C>T (n.*2134C>T) c.179C>T (p.Thr60Met) c.2480+512C>T (n.2480+512C>T) c.2537C>T (p.Thr846Met) c.2474C>T (p.Thr825Met) n.1508C>T c.2543C>T (p.Thr848Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
1 | g.6468530G>C | CA338117777 | PLEKHG5 | c.2306C>G (p.Thr769Arg) c.2480C>G (p.Thr827Arg) c.2417C>G (p.Thr806Arg) n.2782C>G c.2513C>G (p.Thr838Arg) c.2603C>G (p.Thr868Arg) c.*2518C>G (n.*2518C>G) c.2249+512C>G (n.2249+512C>G) c.*2134C>G (n.*2134C>G) c.179C>G (p.Thr60Arg) c.2480+512C>G (n.2480+512C>G) c.2537C>G (p.Thr846Arg) c.2474C>G (p.Thr825Arg) n.1508C>G c.2543C>G (p.Thr848Arg) | |
1 | g.6468530G= | CA1151518779 | PLEKHG5 | c.2306C= (p.Thr769=) c.2480C= (p.Thr827=) c.2417C= (p.Thr806=) n.2782C= c.2513C= (p.Thr838=) c.2603C= (p.Thr868=) c.*2518C= (n.*2518C=) c.2249+512C= (n.2249+512C=) c.*2134C= (n.*2134C=) c.179C= (p.Thr60=) c.2480+512C= (n.2480+512C=) c.2537C= (p.Thr846=) c.2474C= (p.Thr825=) n.1508C= c.2543C= (p.Thr848=) | |
1 | g.6468530G>T | CA338117778 | PLEKHG5 | c.2306C>A (p.Thr769Lys) c.2480C>A (p.Thr827Lys) c.2417C>A (p.Thr806Lys) n.2782C>A c.2513C>A (p.Thr838Lys) c.2603C>A (p.Thr868Lys) c.*2518C>A (n.*2518C>A) c.2249+512C>A (n.2249+512C>A) c.*2134C>A (n.*2134C>A) c.179C>A (p.Thr60Lys) c.2480+512C>A (n.2480+512C>A) c.2537C>A (p.Thr846Lys) c.2474C>A (p.Thr825Lys) n.1508C>A c.2543C>A (p.Thr848Lys) |