Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | |
1 | g.6468531T>A | CA338117779 | PLEKHG5 | c.2305A>T (p.Thr769Ser) c.2479A>T (p.Thr827Ser) c.2416A>T (p.Thr806Ser) n.2781A>T c.2512A>T (p.Thr838Ser) c.2602A>T (p.Thr868Ser) c.*2517A>T (n.*2517A>T) c.2249+511A>T (n.2249+511A>T) c.*2133A>T (n.*2133A>T) c.178A>T (p.Thr60Ser) c.2480+511A>T (n.2480+511A>T) c.2536A>T (p.Thr846Ser) c.2473A>T (p.Thr825Ser) n.1507A>T c.2542A>T (p.Thr848Ser) | |
1 | g.6468531T>C | CA338117780 | PLEKHG5 | c.2305A>G (p.Thr769Ala) c.2479A>G (p.Thr827Ala) c.2416A>G (p.Thr806Ala) n.2781A>G c.2512A>G (p.Thr838Ala) c.2602A>G (p.Thr868Ala) c.*2517A>G (n.*2517A>G) c.2249+511A>G (n.2249+511A>G) c.*2133A>G (n.*2133A>G) c.178A>G (p.Thr60Ala) c.2480+511A>G (n.2480+511A>G) c.2536A>G (p.Thr846Ala) c.2473A>G (p.Thr825Ala) n.1507A>G c.2542A>G (p.Thr848Ala) | |
1 | g.6468531T>G | CA338117781 | PLEKHG5 | c.2305A>C (p.Thr769Pro) c.2479A>C (p.Thr827Pro) c.2416A>C (p.Thr806Pro) n.2781A>C c.2512A>C (p.Thr838Pro) c.2602A>C (p.Thr868Pro) c.*2517A>C (n.*2517A>C) c.2249+511A>C (n.2249+511A>C) c.*2133A>C (n.*2133A>C) c.178A>C (p.Thr60Pro) c.2480+511A>C (n.2480+511A>C) c.2536A>C (p.Thr846Pro) c.2473A>C (p.Thr825Pro) n.1507A>C c.2542A>C (p.Thr848Pro) | |
1 | g.6468532G>A | CA416022260 | PLEKHG5 | c.2304C>T (p.Asp768=) c.2478C>T (p.Asp826=) c.2415C>T (p.Asp805=) n.2780C>T c.2511C>T (p.Asp837=) c.2601C>T (p.Asp867=) c.*2516C>T (n.*2516C>T) c.2249+510C>T (n.2249+510C>T) c.*2132C>T (n.*2132C>T) c.177C>T (p.Asp59=) c.2480+510C>T (n.2480+510C>T) c.2535C>T (p.Asp845=) c.2472C>T (p.Asp824=) n.1506C>T c.2541C>T (p.Asp847=) | |
1 | g.6468532G>C | CA338117782 | PLEKHG5 | c.2304C>G (p.Asp768Glu) c.2478C>G (p.Asp826Glu) c.2415C>G (p.Asp805Glu) n.2780C>G c.2511C>G (p.Asp837Glu) c.2601C>G (p.Asp867Glu) c.*2516C>G (n.*2516C>G) c.2249+510C>G (n.2249+510C>G) c.*2132C>G (n.*2132C>G) c.177C>G (p.Asp59Glu) c.2480+510C>G (n.2480+510C>G) c.2535C>G (p.Asp845Glu) c.2472C>G (p.Asp824Glu) n.1506C>G c.2541C>G (p.Asp847Glu) | |
1 | g.6468532G>T | CA338117783 | PLEKHG5 | c.2304C>A (p.Asp768Glu) c.2478C>A (p.Asp826Glu) c.2415C>A (p.Asp805Glu) n.2780C>A c.2511C>A (p.Asp837Glu) c.2601C>A (p.Asp867Glu) c.*2516C>A (n.*2516C>A) c.2249+510C>A (n.2249+510C>A) c.*2132C>A (n.*2132C>A) c.177C>A (p.Asp59Glu) c.2480+510C>A (n.2480+510C>A) c.2535C>A (p.Asp845Glu) c.2472C>A (p.Asp824Glu) n.1506C>A c.2541C>A (p.Asp847Glu) | |
1 | g.6468533T>A | CA338117786 | PLEKHG5 | c.2303A>T (p.Asp768Val) c.2477A>T (p.Asp826Val) c.2414A>T (p.Asp805Val) n.2779A>T c.2510A>T (p.Asp837Val) c.2600A>T (p.Asp867Val) c.*2515A>T (n.*2515A>T) c.2249+509A>T (n.2249+509A>T) c.*2131A>T (n.*2131A>T) c.176A>T (p.Asp59Val) c.2480+509A>T (n.2480+509A>T) c.2534A>T (p.Asp845Val) c.2471A>T (p.Asp824Val) n.1505A>T c.2540A>T (p.Asp847Val) | |
1 | g.6468533T>C | CA338117785 | PLEKHG5 | c.2303A>G (p.Asp768Gly) c.2477A>G (p.Asp826Gly) c.2414A>G (p.Asp805Gly) n.2779A>G c.2510A>G (p.Asp837Gly) c.2600A>G (p.Asp867Gly) c.*2515A>G (n.*2515A>G) c.2249+509A>G (n.2249+509A>G) c.*2131A>G (n.*2131A>G) c.176A>G (p.Asp59Gly) c.2480+509A>G (n.2480+509A>G) c.2534A>G (p.Asp845Gly) c.2471A>G (p.Asp824Gly) n.1505A>G c.2540A>G (p.Asp847Gly) | |
1 | g.6468533T>G | CA338117784 | PLEKHG5 | c.2303A>C (p.Asp768Ala) c.2477A>C (p.Asp826Ala) c.2414A>C (p.Asp805Ala) n.2779A>C c.2510A>C (p.Asp837Ala) c.2600A>C (p.Asp867Ala) c.*2515A>C (n.*2515A>C) c.2249+509A>C (n.2249+509A>C) c.*2131A>C (n.*2131A>C) c.176A>C (p.Asp59Ala) c.2480+509A>C (n.2480+509A>C) c.2534A>C (p.Asp845Ala) c.2471A>C (p.Asp824Ala) n.1505A>C c.2540A>C (p.Asp847Ala) | |
1 | g.6468534C>A | CA338117789 | PLEKHG5 | c.2302G>T (p.Asp768Tyr) c.2476G>T (p.Asp826Tyr) c.2413G>T (p.Asp805Tyr) n.2778G>T c.2509G>T (p.Asp837Tyr) c.2599G>T (p.Asp867Tyr) c.*2514G>T (n.*2514G>T) c.2249+508G>T (n.2249+508G>T) c.*2130G>T (n.*2130G>T) c.175G>T (p.Asp59Tyr) c.2480+508G>T (n.2480+508G>T) c.2533G>T (p.Asp845Tyr) c.2470G>T (p.Asp824Tyr) n.1504G>T c.2539G>T (p.Asp847Tyr) | gnomAD v4 |
1 | g.6468534C>G | CA338117787 | PLEKHG5 | c.2302G>C (p.Asp768His) c.2476G>C (p.Asp826His) c.2413G>C (p.Asp805His) n.2778G>C c.2509G>C (p.Asp837His) c.2599G>C (p.Asp867His) c.*2514G>C (n.*2514G>C) c.2249+508G>C (n.2249+508G>C) c.*2130G>C (n.*2130G>C) c.175G>C (p.Asp59His) c.2480+508G>C (n.2480+508G>C) c.2533G>C (p.Asp845His) c.2470G>C (p.Asp824His) n.1504G>C c.2539G>C (p.Asp847His) | |
1 | g.6468534C>T | CA338117788 | PLEKHG5 | c.2302G>A (p.Asp768Asn) c.2476G>A (p.Asp826Asn) c.2413G>A (p.Asp805Asn) n.2778G>A c.2509G>A (p.Asp837Asn) c.2599G>A (p.Asp867Asn) c.*2514G>A (n.*2514G>A) c.2249+508G>A (n.2249+508G>A) c.*2130G>A (n.*2130G>A) c.175G>A (p.Asp59Asn) c.2480+508G>A (n.2480+508G>A) c.2533G>A (p.Asp845Asn) c.2470G>A (p.Asp824Asn) n.1504G>A c.2539G>A (p.Asp847Asn) | gnomAD v4 |
1 | g.6468535C>A | CA416022262 | PLEKHG5 | c.2301G>T (p.Gly767=) c.2475G>T (p.Gly825=) c.2412G>T (p.Gly804=) n.2777G>T c.2508G>T (p.Gly836=) c.2598G>T (p.Gly866=) c.*2513G>T (n.*2513G>T) c.2249+507G>T (n.2249+507G>T) c.*2129G>T (n.*2129G>T) c.174G>T (p.Gly58=) c.2480+507G>T (n.2480+507G>T) c.2532G>T (p.Gly844=) c.2469G>T (p.Gly823=) n.1503G>T c.2538G>T (p.Gly846=) | |
1 | g.6468535C>G | CA416022263 | PLEKHG5 | c.2301G>C (p.Gly767=) c.2475G>C (p.Gly825=) c.2412G>C (p.Gly804=) n.2777G>C c.2508G>C (p.Gly836=) c.2598G>C (p.Gly866=) c.*2513G>C (n.*2513G>C) c.2249+507G>C (n.2249+507G>C) c.*2129G>C (n.*2129G>C) c.174G>C (p.Gly58=) c.2480+507G>C (n.2480+507G>C) c.2532G>C (p.Gly844=) c.2469G>C (p.Gly823=) n.1503G>C c.2538G>C (p.Gly846=) | ClinVar |
1 | g.6468535C>T | CA416022264 | PLEKHG5 | c.2301G>A (p.Gly767=) c.2475G>A (p.Gly825=) c.2412G>A (p.Gly804=) n.2777G>A c.2508G>A (p.Gly836=) c.2598G>A (p.Gly866=) c.*2513G>A (n.*2513G>A) c.2249+507G>A (n.2249+507G>A) c.*2129G>A (n.*2129G>A) c.174G>A (p.Gly58=) c.2480+507G>A (n.2480+507G>A) c.2532G>A (p.Gly844=) c.2469G>A (p.Gly823=) n.1503G>A c.2538G>A (p.Gly846=) | |
1 | g.6468536C>A | CA338117790 | PLEKHG5 | c.2300G>T (p.Gly767Val) c.2474G>T (p.Gly825Val) c.2411G>T (p.Gly804Val) n.2776G>T c.2507G>T (p.Gly836Val) c.2597G>T (p.Gly866Val) c.*2512G>T (n.*2512G>T) c.2249+506G>T (n.2249+506G>T) c.*2128G>T (n.*2128G>T) c.173G>T (p.Gly58Val) c.2480+506G>T (n.2480+506G>T) c.2531G>T (p.Gly844Val) c.2468G>T (p.Gly823Val) n.1502G>T c.2537G>T (p.Gly846Val) | COSMIC COSMIC COSMIC |
1 | g.6468536C>G | CA338117791 | PLEKHG5 | c.2300G>C (p.Gly767Ala) c.2474G>C (p.Gly825Ala) c.2411G>C (p.Gly804Ala) n.2776G>C c.2507G>C (p.Gly836Ala) c.2597G>C (p.Gly866Ala) c.*2512G>C (n.*2512G>C) c.2249+506G>C (n.2249+506G>C) c.*2128G>C (n.*2128G>C) c.173G>C (p.Gly58Ala) c.2480+506G>C (n.2480+506G>C) c.2531G>C (p.Gly844Ala) c.2468G>C (p.Gly823Ala) n.1502G>C c.2537G>C (p.Gly846Ala) | |
1 | g.6468536C>T | CA338117792 | PLEKHG5 | c.2300G>A (p.Gly767Glu) c.2474G>A (p.Gly825Glu) c.2411G>A (p.Gly804Glu) n.2776G>A c.2507G>A (p.Gly836Glu) c.2597G>A (p.Gly866Glu) c.*2512G>A (n.*2512G>A) c.2249+506G>A (n.2249+506G>A) c.*2128G>A (n.*2128G>A) c.173G>A (p.Gly58Glu) c.2480+506G>A (n.2480+506G>A) c.2531G>A (p.Gly844Glu) c.2468G>A (p.Gly823Glu) n.1502G>A c.2537G>A (p.Gly846Glu) | |
1 | g.6468537C>A | CA338117793 | PLEKHG5 | c.2299G>T (p.Gly767Trp) c.2473G>T (p.Gly825Trp) c.2410G>T (p.Gly804Trp) n.2775G>T c.2506G>T (p.Gly836Trp) c.2596G>T (p.Gly866Trp) c.*2511G>T (n.*2511G>T) c.2249+505G>T (n.2249+505G>T) c.*2127G>T (n.*2127G>T) c.172G>T (p.Gly58Trp) c.2480+505G>T (n.2480+505G>T) c.2530G>T (p.Gly844Trp) c.2467G>T (p.Gly823Trp) n.1501G>T c.2536G>T (p.Gly846Trp) | |
1 | g.6468537C>G | CA338117794 | PLEKHG5 | c.2299G>C (p.Gly767Arg) c.2473G>C (p.Gly825Arg) c.2410G>C (p.Gly804Arg) n.2775G>C c.2506G>C (p.Gly836Arg) c.2596G>C (p.Gly866Arg) c.*2511G>C (n.*2511G>C) c.2249+505G>C (n.2249+505G>C) c.*2127G>C (n.*2127G>C) c.172G>C (p.Gly58Arg) c.2480+505G>C (n.2480+505G>C) c.2530G>C (p.Gly844Arg) c.2467G>C (p.Gly823Arg) n.1501G>C c.2536G>C (p.Gly846Arg) | |
1 | g.6468537C>T | CA338117795 | PLEKHG5 | c.2299G>A (p.Gly767Arg) c.2473G>A (p.Gly825Arg) c.2410G>A (p.Gly804Arg) n.2775G>A c.2506G>A (p.Gly836Arg) c.2596G>A (p.Gly866Arg) c.*2511G>A (n.*2511G>A) c.2249+505G>A (n.2249+505G>A) c.*2127G>A (n.*2127G>A) c.172G>A (p.Gly58Arg) c.2480+505G>A (n.2480+505G>A) c.2530G>A (p.Gly844Arg) c.2467G>A (p.Gly823Arg) n.1501G>A c.2536G>A (p.Gly846Arg) | |
1 | g.6468538A>C | CA416022268 | PLEKHG5 | c.2298T>G (p.Pro766=) c.2472T>G (p.Pro824=) c.2409T>G (p.Pro803=) n.2774T>G c.2505T>G (p.Pro835=) c.2595T>G (p.Pro865=) c.*2510T>G (n.*2510T>G) c.2249+504T>G (n.2249+504T>G) c.*2126T>G (n.*2126T>G) c.171T>G (p.Pro57=) c.2480+504T>G (n.2480+504T>G) c.2529T>G (p.Pro843=) c.2466T>G (p.Pro822=) n.1500T>G c.2535T>G (p.Pro845=) | |
1 | g.6468538A>G | CA416022269 | PLEKHG5 | c.2298T>C (p.Pro766=) c.2472T>C (p.Pro824=) c.2409T>C (p.Pro803=) n.2774T>C c.2505T>C (p.Pro835=) c.2595T>C (p.Pro865=) c.*2510T>C (n.*2510T>C) c.2249+504T>C (n.2249+504T>C) c.*2126T>C (n.*2126T>C) c.171T>C (p.Pro57=) c.2480+504T>C (n.2480+504T>C) c.2529T>C (p.Pro843=) c.2466T>C (p.Pro822=) n.1500T>C c.2535T>C (p.Pro845=) | |
1 | g.6468538A>T | CA416022270 | PLEKHG5 | c.2298T>A (p.Pro766=) c.2472T>A (p.Pro824=) c.2409T>A (p.Pro803=) n.2774T>A c.2505T>A (p.Pro835=) c.2595T>A (p.Pro865=) c.*2510T>A (n.*2510T>A) c.2249+504T>A (n.2249+504T>A) c.*2126T>A (n.*2126T>A) c.171T>A (p.Pro57=) c.2480+504T>A (n.2480+504T>A) c.2529T>A (p.Pro843=) c.2466T>A (p.Pro822=) n.1500T>A c.2535T>A (p.Pro845=) | |
1 | g.6468539G>A | CA338117796 | PLEKHG5 | c.2297C>T (p.Pro766Leu) c.2471C>T (p.Pro824Leu) c.2408C>T (p.Pro803Leu) n.2773C>T c.2504C>T (p.Pro835Leu) c.2594C>T (p.Pro865Leu) c.*2509C>T (n.*2509C>T) c.2249+503C>T (n.2249+503C>T) c.*2125C>T (n.*2125C>T) c.170C>T (p.Pro57Leu) c.2480+503C>T (n.2480+503C>T) c.2528C>T (p.Pro843Leu) c.2465C>T (p.Pro822Leu) n.1499C>T c.2534C>T (p.Pro845Leu) | |
1 | g.6468539G>C | CA338117797 | PLEKHG5 | c.2297C>G (p.Pro766Arg) c.2471C>G (p.Pro824Arg) c.2408C>G (p.Pro803Arg) n.2773C>G c.2504C>G (p.Pro835Arg) c.2594C>G (p.Pro865Arg) c.*2509C>G (n.*2509C>G) c.2249+503C>G (n.2249+503C>G) c.*2125C>G (n.*2125C>G) c.170C>G (p.Pro57Arg) c.2480+503C>G (n.2480+503C>G) c.2528C>G (p.Pro843Arg) c.2465C>G (p.Pro822Arg) n.1499C>G c.2534C>G (p.Pro845Arg) | |
1 | g.6468539G>T | CA338117798 | PLEKHG5 | c.2297C>A (p.Pro766His) c.2471C>A (p.Pro824His) c.2408C>A (p.Pro803His) n.2773C>A c.2504C>A (p.Pro835His) c.2594C>A (p.Pro865His) c.*2509C>A (n.*2509C>A) c.2249+503C>A (n.2249+503C>A) c.*2125C>A (n.*2125C>A) c.170C>A (p.Pro57His) c.2480+503C>A (n.2480+503C>A) c.2528C>A (p.Pro843His) c.2465C>A (p.Pro822His) n.1499C>A c.2534C>A (p.Pro845His) | |
1 | g.6468540G>A | CA338117799 | PLEKHG5 | c.2296C>T (p.Pro766Ser) c.2470C>T (p.Pro824Ser) c.2407C>T (p.Pro803Ser) n.2772C>T c.2503C>T (p.Pro835Ser) c.2593C>T (p.Pro865Ser) c.*2508C>T (n.*2508C>T) c.2249+502C>T (n.2249+502C>T) c.*2124C>T (n.*2124C>T) c.169C>T (p.Pro57Ser) c.2480+502C>T (n.2480+502C>T) c.2527C>T (p.Pro843Ser) c.2464C>T (p.Pro822Ser) n.1498C>T c.2533C>T (p.Pro845Ser) | |
1 | g.6468540G>C | CA338117800 | PLEKHG5 | c.2296C>G (p.Pro766Ala) c.2470C>G (p.Pro824Ala) c.2407C>G (p.Pro803Ala) n.2772C>G c.2503C>G (p.Pro835Ala) c.2593C>G (p.Pro865Ala) c.*2508C>G (n.*2508C>G) c.2249+502C>G (n.2249+502C>G) c.*2124C>G (n.*2124C>G) c.169C>G (p.Pro57Ala) c.2480+502C>G (n.2480+502C>G) c.2527C>G (p.Pro843Ala) c.2464C>G (p.Pro822Ala) n.1498C>G c.2533C>G (p.Pro845Ala) | |
1 | g.6468540G>T | CA338117801 | PLEKHG5 | c.2296C>A (p.Pro766Thr) c.2470C>A (p.Pro824Thr) c.2407C>A (p.Pro803Thr) n.2772C>A c.2503C>A (p.Pro835Thr) c.2593C>A (p.Pro865Thr) c.*2508C>A (n.*2508C>A) c.2249+502C>A (n.2249+502C>A) c.*2124C>A (n.*2124C>A) c.169C>A (p.Pro57Thr) c.2480+502C>A (n.2480+502C>A) c.2527C>A (p.Pro843Thr) c.2464C>A (p.Pro822Thr) n.1498C>A c.2533C>A (p.Pro845Thr) | |
1 | g.6468541C>A | CA338117802 | PLEKHG5 | c.2295G>T (p.Glu765Asp) c.2469G>T (p.Glu823Asp) c.2406G>T (p.Glu802Asp) n.2771G>T c.2502G>T (p.Glu834Asp) c.2592G>T (p.Glu864Asp) c.*2507G>T (n.*2507G>T) c.2249+501G>T (n.2249+501G>T) c.*2123G>T (n.*2123G>T) c.168G>T (p.Glu56Asp) c.2480+501G>T (n.2480+501G>T) c.2526G>T (p.Glu842Asp) c.2463G>T (p.Glu821Asp) n.1497G>T c.2532G>T (p.Glu844Asp) | |
1 | g.6468541C>G | CA338117803 | PLEKHG5 | c.2295G>C (p.Glu765Asp) c.2469G>C (p.Glu823Asp) c.2406G>C (p.Glu802Asp) n.2771G>C c.2502G>C (p.Glu834Asp) c.2592G>C (p.Glu864Asp) c.*2507G>C (n.*2507G>C) c.2249+501G>C (n.2249+501G>C) c.*2123G>C (n.*2123G>C) c.168G>C (p.Glu56Asp) c.2480+501G>C (n.2480+501G>C) c.2526G>C (p.Glu842Asp) c.2463G>C (p.Glu821Asp) n.1497G>C c.2532G>C (p.Glu844Asp) | |
1 | g.6468541C>T | CA416022274 | PLEKHG5 | c.2295G>A (p.Glu765=) c.2469G>A (p.Glu823=) c.2406G>A (p.Glu802=) n.2771G>A c.2502G>A (p.Glu834=) c.2592G>A (p.Glu864=) c.*2507G>A (n.*2507G>A) c.2249+501G>A (n.2249+501G>A) c.*2123G>A (n.*2123G>A) c.168G>A (p.Glu56=) c.2480+501G>A (n.2480+501G>A) c.2526G>A (p.Glu842=) c.2463G>A (p.Glu821=) n.1497G>A c.2532G>A (p.Glu844=) | gnomAD v4 |
1 | g.6468542T>A | CA338117804 | PLEKHG5 | c.2294A>T (p.Glu765Val) c.2468A>T (p.Glu823Val) c.2405A>T (p.Glu802Val) n.2770A>T c.2501A>T (p.Glu834Val) c.2591A>T (p.Glu864Val) c.*2506A>T (n.*2506A>T) c.2249+500A>T (n.2249+500A>T) c.*2122A>T (n.*2122A>T) c.167A>T (p.Glu56Val) c.2480+500A>T (n.2480+500A>T) c.2525A>T (p.Glu842Val) c.2462A>T (p.Glu821Val) n.1496A>T c.2531A>T (p.Glu844Val) | |
1 | g.6468542T>C | CA338117805 | PLEKHG5 | c.2294A>G (p.Glu765Gly) c.2468A>G (p.Glu823Gly) c.2405A>G (p.Glu802Gly) n.2770A>G c.2501A>G (p.Glu834Gly) c.2591A>G (p.Glu864Gly) c.*2506A>G (n.*2506A>G) c.2249+500A>G (n.2249+500A>G) c.*2122A>G (n.*2122A>G) c.167A>G (p.Glu56Gly) c.2480+500A>G (n.2480+500A>G) c.2525A>G (p.Glu842Gly) c.2462A>G (p.Glu821Gly) n.1496A>G c.2531A>G (p.Glu844Gly) | |
1 | g.6468542T>G | CA338117806 | PLEKHG5 | c.2294A>C (p.Glu765Ala) c.2468A>C (p.Glu823Ala) c.2405A>C (p.Glu802Ala) n.2770A>C c.2501A>C (p.Glu834Ala) c.2591A>C (p.Glu864Ala) c.*2506A>C (n.*2506A>C) c.2249+500A>C (n.2249+500A>C) c.*2122A>C (n.*2122A>C) c.167A>C (p.Glu56Ala) c.2480+500A>C (n.2480+500A>C) c.2525A>C (p.Glu842Ala) c.2462A>C (p.Glu821Ala) n.1496A>C c.2531A>C (p.Glu844Ala) | |
1 | g.6468543C>A | CA338117807 | PLEKHG5 | c.2293G>T (p.Glu765Ter) c.2467G>T (p.Glu823Ter) c.2404G>T (p.Glu802Ter) n.2769G>T c.2500G>T (p.Glu834Ter) c.2590G>T (p.Glu864Ter) c.*2505G>T (n.*2505G>T) c.2249+499G>T (n.2249+499G>T) c.*2121G>T (n.*2121G>T) c.166G>T (p.Glu56Ter) c.2480+499G>T (n.2480+499G>T) c.2524G>T (p.Glu842Ter) c.2461G>T (p.Glu821Ter) n.1495G>T c.2530G>T (p.Glu844Ter) | |
1 | g.6468543C= | CA1144657783 | PLEKHG5 | c.2293G= (p.Glu765=) c.2467G= (p.Glu823=) c.2404G= (p.Glu802=) n.2769G= c.2500G= (p.Glu834=) c.2590G= (p.Glu864=) c.*2505G= (n.*2505G=) c.2249+499G= (n.2249+499G=) c.*2121G= (n.*2121G=) c.166G= (p.Glu56=) c.2480+499G= (n.2480+499G=) c.2524G= (p.Glu842=) c.2461G= (p.Glu821=) n.1495G= c.2530G= (p.Glu844=) | |
1 | g.6468543C>G | CA561189 | PLEKHG5 | c.2293G>C (p.Glu765Gln) c.2467G>C (p.Glu823Gln) c.2404G>C (p.Glu802Gln) n.2769G>C c.2500G>C (p.Glu834Gln) c.2590G>C (p.Glu864Gln) c.*2505G>C (n.*2505G>C) c.2249+499G>C (n.2249+499G>C) c.*2121G>C (n.*2121G>C) c.166G>C (p.Glu56Gln) c.2480+499G>C (n.2480+499G>C) c.2524G>C (p.Glu842Gln) c.2461G>C (p.Glu821Gln) n.1495G>C c.2530G>C (p.Glu844Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468543C>T | CA338117808 | PLEKHG5 | c.2293G>A (p.Glu765Lys) c.2467G>A (p.Glu823Lys) c.2404G>A (p.Glu802Lys) n.2769G>A c.2500G>A (p.Glu834Lys) c.2590G>A (p.Glu864Lys) c.*2505G>A (n.*2505G>A) c.2249+499G>A (n.2249+499G>A) c.*2121G>A (n.*2121G>A) c.166G>A (p.Glu56Lys) c.2480+499G>A (n.2480+499G>A) c.2524G>A (p.Glu842Lys) c.2461G>A (p.Glu821Lys) n.1495G>A c.2530G>A (p.Glu844Lys) | |
1 | g.6468544T>A | CA416022276 | PLEKHG5 | c.2292A>T (p.Val764=) c.2466A>T (p.Val822=) c.2403A>T (p.Val801=) n.2768A>T c.2499A>T (p.Val833=) c.2589A>T (p.Val863=) c.*2504A>T (n.*2504A>T) c.2249+498A>T (n.2249+498A>T) c.*2120A>T (n.*2120A>T) c.165A>T (p.Val55=) c.2480+498A>T (n.2480+498A>T) c.2523A>T (p.Val841=) c.2460A>T (p.Val820=) n.1494A>T c.2529A>T (p.Val843=) | |
1 | g.6468544T>C | CA416022278 | PLEKHG5 | c.2292A>G (p.Val764=) c.2466A>G (p.Val822=) c.2403A>G (p.Val801=) n.2768A>G c.2499A>G (p.Val833=) c.2589A>G (p.Val863=) c.*2504A>G (n.*2504A>G) c.2249+498A>G (n.2249+498A>G) c.*2120A>G (n.*2120A>G) c.165A>G (p.Val55=) c.2480+498A>G (n.2480+498A>G) c.2523A>G (p.Val841=) c.2460A>G (p.Val820=) n.1494A>G c.2529A>G (p.Val843=) | ClinVar COSMIC COSMIC COSMIC |
1 | g.6468544T>G | CA416022279 | PLEKHG5 | c.2292A>C (p.Val764=) c.2466A>C (p.Val822=) c.2403A>C (p.Val801=) n.2768A>C c.2499A>C (p.Val833=) c.2589A>C (p.Val863=) c.*2504A>C (n.*2504A>C) c.2249+498A>C (n.2249+498A>C) c.*2120A>C (n.*2120A>C) c.165A>C (p.Val55=) c.2480+498A>C (n.2480+498A>C) c.2523A>C (p.Val841=) c.2460A>C (p.Val820=) n.1494A>C c.2529A>C (p.Val843=) | |
1 | g.6468545A>C | CA338117809 | PLEKHG5 | c.2291T>G (p.Val764Gly) c.2465T>G (p.Val822Gly) c.2402T>G (p.Val801Gly) n.2767T>G c.2498T>G (p.Val833Gly) c.2588T>G (p.Val863Gly) c.*2503T>G (n.*2503T>G) c.2249+497T>G (n.2249+497T>G) c.*2119T>G (n.*2119T>G) c.164T>G (p.Val55Gly) c.2480+497T>G (n.2480+497T>G) c.2522T>G (p.Val841Gly) c.2459T>G (p.Val820Gly) n.1493T>G c.2528T>G (p.Val843Gly) | |
1 | g.6468545A>G | CA338117810 | PLEKHG5 | c.2291T>C (p.Val764Ala) c.2465T>C (p.Val822Ala) c.2402T>C (p.Val801Ala) n.2767T>C c.2498T>C (p.Val833Ala) c.2588T>C (p.Val863Ala) c.*2503T>C (n.*2503T>C) c.2249+497T>C (n.2249+497T>C) c.*2119T>C (n.*2119T>C) c.164T>C (p.Val55Ala) c.2480+497T>C (n.2480+497T>C) c.2522T>C (p.Val841Ala) c.2459T>C (p.Val820Ala) n.1493T>C c.2528T>C (p.Val843Ala) | |
1 | g.6468545A>T | CA338117811 | PLEKHG5 | c.2291T>A (p.Val764Glu) c.2465T>A (p.Val822Glu) c.2402T>A (p.Val801Glu) n.2767T>A c.2498T>A (p.Val833Glu) c.2588T>A (p.Val863Glu) c.*2503T>A (n.*2503T>A) c.2249+497T>A (n.2249+497T>A) c.*2119T>A (n.*2119T>A) c.164T>A (p.Val55Glu) c.2480+497T>A (n.2480+497T>A) c.2522T>A (p.Val841Glu) c.2459T>A (p.Val820Glu) n.1493T>A c.2528T>A (p.Val843Glu) | |
1 | g.6468546C>A | CA338117812 | PLEKHG5 | c.2290G>T (p.Val764Leu) c.2464G>T (p.Val822Leu) c.2401G>T (p.Val801Leu) n.2766G>T c.2497G>T (p.Val833Leu) c.2587G>T (p.Val863Leu) c.*2502G>T (n.*2502G>T) c.2249+496G>T (n.2249+496G>T) c.*2118G>T (n.*2118G>T) c.163G>T (p.Val55Leu) c.2480+496G>T (n.2480+496G>T) c.2521G>T (p.Val841Leu) c.2458G>T (p.Val820Leu) n.1492G>T c.2527G>T (p.Val843Leu) | gnomAD v4 |
1 | g.6468546C>G | CA338117813 | PLEKHG5 | c.2290G>C (p.Val764Leu) c.2464G>C (p.Val822Leu) c.2401G>C (p.Val801Leu) n.2766G>C c.2497G>C (p.Val833Leu) c.2587G>C (p.Val863Leu) c.*2502G>C (n.*2502G>C) c.2249+496G>C (n.2249+496G>C) c.*2118G>C (n.*2118G>C) c.163G>C (p.Val55Leu) c.2480+496G>C (n.2480+496G>C) c.2521G>C (p.Val841Leu) c.2458G>C (p.Val820Leu) n.1492G>C c.2527G>C (p.Val843Leu) | |
1 | g.6468546C>T | CA338117814 | PLEKHG5 | c.2290G>A (p.Val764Ile) c.2464G>A (p.Val822Ile) c.2401G>A (p.Val801Ile) n.2766G>A c.2497G>A (p.Val833Ile) c.2587G>A (p.Val863Ile) c.*2502G>A (n.*2502G>A) c.2249+496G>A (n.2249+496G>A) c.*2118G>A (n.*2118G>A) c.163G>A (p.Val55Ile) c.2480+496G>A (n.2480+496G>A) c.2521G>A (p.Val841Ile) c.2458G>A (p.Val820Ile) n.1492G>A c.2527G>A (p.Val843Ile) | |
1 | g.6468547C>A | CA416022284 | PLEKHG5 | c.2289G>T (p.Val763=) c.2463G>T (p.Val821=) c.2400G>T (p.Val800=) n.2765G>T c.2496G>T (p.Val832=) c.2586G>T (p.Val862=) c.*2501G>T (n.*2501G>T) c.2249+495G>T (n.2249+495G>T) c.*2117G>T (n.*2117G>T) c.162G>T (p.Val54=) c.2480+495G>T (n.2480+495G>T) c.2520G>T (p.Val840=) c.2457G>T (p.Val819=) n.1491G>T c.2526G>T (p.Val842=) | |
1 | g.6468547C>G | CA416022289 | PLEKHG5 | c.2289G>C (p.Val763=) c.2463G>C (p.Val821=) c.2400G>C (p.Val800=) n.2765G>C c.2496G>C (p.Val832=) c.2586G>C (p.Val862=) c.*2501G>C (n.*2501G>C) c.2249+495G>C (n.2249+495G>C) c.*2117G>C (n.*2117G>C) c.162G>C (p.Val54=) c.2480+495G>C (n.2480+495G>C) c.2520G>C (p.Val840=) c.2457G>C (p.Val819=) n.1491G>C c.2526G>C (p.Val842=) | |
1 | g.6468547C>T | CA416022286 | PLEKHG5 | c.2289G>A (p.Val763=) c.2463G>A (p.Val821=) c.2400G>A (p.Val800=) n.2765G>A c.2496G>A (p.Val832=) c.2586G>A (p.Val862=) c.*2501G>A (n.*2501G>A) c.2249+495G>A (n.2249+495G>A) c.*2117G>A (n.*2117G>A) c.162G>A (p.Val54=) c.2480+495G>A (n.2480+495G>A) c.2520G>A (p.Val840=) c.2457G>A (p.Val819=) n.1491G>A c.2526G>A (p.Val842=) | |
1 | g.6468548A>C | CA338117816 | PLEKHG5 | c.2288T>G (p.Val763Gly) c.2462T>G (p.Val821Gly) c.2399T>G (p.Val800Gly) n.2764T>G c.2495T>G (p.Val832Gly) c.2585T>G (p.Val862Gly) c.*2500T>G (n.*2500T>G) c.2249+494T>G (n.2249+494T>G) c.*2116T>G (n.*2116T>G) c.161T>G (p.Val54Gly) c.2480+494T>G (n.2480+494T>G) c.2519T>G (p.Val840Gly) c.2456T>G (p.Val819Gly) n.1490T>G c.2525T>G (p.Val842Gly) | |
1 | g.6468548A>G | CA338117817 | PLEKHG5 | c.2288T>C (p.Val763Ala) c.2462T>C (p.Val821Ala) c.2399T>C (p.Val800Ala) n.2764T>C c.2495T>C (p.Val832Ala) c.2585T>C (p.Val862Ala) c.*2500T>C (n.*2500T>C) c.2249+494T>C (n.2249+494T>C) c.*2116T>C (n.*2116T>C) c.161T>C (p.Val54Ala) c.2480+494T>C (n.2480+494T>C) c.2519T>C (p.Val840Ala) c.2456T>C (p.Val819Ala) n.1490T>C c.2525T>C (p.Val842Ala) | |
1 | g.6468548A>T | CA338117815 | PLEKHG5 | c.2288T>A (p.Val763Glu) c.2462T>A (p.Val821Glu) c.2399T>A (p.Val800Glu) n.2764T>A c.2495T>A (p.Val832Glu) c.2585T>A (p.Val862Glu) c.*2500T>A (n.*2500T>A) c.2249+494T>A (n.2249+494T>A) c.*2116T>A (n.*2116T>A) c.161T>A (p.Val54Glu) c.2480+494T>A (n.2480+494T>A) c.2519T>A (p.Val840Glu) c.2456T>A (p.Val819Glu) n.1490T>A c.2525T>A (p.Val842Glu) | |
1 | g.6468549C>A | CA338117818 | PLEKHG5 | c.2287G>T (p.Val763Leu) c.2461G>T (p.Val821Leu) c.2398G>T (p.Val800Leu) n.2763G>T c.2494G>T (p.Val832Leu) c.2584G>T (p.Val862Leu) c.*2499G>T (n.*2499G>T) c.2249+493G>T (n.2249+493G>T) c.*2115G>T (n.*2115G>T) c.160G>T (p.Val54Leu) c.2480+493G>T (n.2480+493G>T) c.2518G>T (p.Val840Leu) c.2455G>T (p.Val819Leu) n.1489G>T c.2524G>T (p.Val842Leu) | |
1 | g.6468549C= | CA1151518794 | PLEKHG5 | c.2287G= (p.Val763=) c.2461G= (p.Val821=) c.2398G= (p.Val800=) n.2763G= c.2494G= (p.Val832=) c.2584G= (p.Val862=) c.*2499G= (n.*2499G=) c.2249+493G= (n.2249+493G=) c.*2115G= (n.*2115G=) c.160G= (p.Val54=) c.2480+493G= (n.2480+493G=) c.2518G= (p.Val840=) c.2455G= (p.Val819=) n.1489G= c.2524G= (p.Val842=) | |
1 | g.6468549C>G | CA338117820 | PLEKHG5 | c.2287G>C (p.Val763Leu) c.2461G>C (p.Val821Leu) c.2398G>C (p.Val800Leu) n.2763G>C c.2494G>C (p.Val832Leu) c.2584G>C (p.Val862Leu) c.*2499G>C (n.*2499G>C) c.2249+493G>C (n.2249+493G>C) c.*2115G>C (n.*2115G>C) c.160G>C (p.Val54Leu) c.2480+493G>C (n.2480+493G>C) c.2518G>C (p.Val840Leu) c.2455G>C (p.Val819Leu) n.1489G>C c.2524G>C (p.Val842Leu) | |
1 | g.6468549C>T | CA338117819 | PLEKHG5 | c.2287G>A (p.Val763Met) c.2461G>A (p.Val821Met) c.2398G>A (p.Val800Met) n.2763G>A c.2494G>A (p.Val832Met) c.2584G>A (p.Val862Met) c.*2499G>A (n.*2499G>A) c.2249+493G>A (n.2249+493G>A) c.*2115G>A (n.*2115G>A) c.160G>A (p.Val54Met) c.2480+493G>A (n.2480+493G>A) c.2518G>A (p.Val840Met) c.2455G>A (p.Val819Met) n.1489G>A c.2524G>A (p.Val842Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468550A>C | CA416022291 | PLEKHG5 | c.2286T>G (p.Val762=) c.2460T>G (p.Val820=) c.2397T>G (p.Val799=) n.2762T>G c.2493T>G (p.Val831=) c.2583T>G (p.Val861=) c.*2498T>G (n.*2498T>G) c.2249+492T>G (n.2249+492T>G) c.*2114T>G (n.*2114T>G) c.159T>G (p.Val53=) c.2480+492T>G (n.2480+492T>G) c.2517T>G (p.Val839=) c.2454T>G (p.Val818=) n.1488T>G c.2523T>G (p.Val841=) | |
1 | g.6468550A>G | CA416022292 | PLEKHG5 | c.2286T>C (p.Val762=) c.2460T>C (p.Val820=) c.2397T>C (p.Val799=) n.2762T>C c.2493T>C (p.Val831=) c.2583T>C (p.Val861=) c.*2498T>C (n.*2498T>C) c.2249+492T>C (n.2249+492T>C) c.*2114T>C (n.*2114T>C) c.159T>C (p.Val53=) c.2480+492T>C (n.2480+492T>C) c.2517T>C (p.Val839=) c.2454T>C (p.Val818=) n.1488T>C c.2523T>C (p.Val841=) | |
1 | g.6468550A>T | CA416022293 | PLEKHG5 | c.2286T>A (p.Val762=) c.2460T>A (p.Val820=) c.2397T>A (p.Val799=) n.2762T>A c.2493T>A (p.Val831=) c.2583T>A (p.Val861=) c.*2498T>A (n.*2498T>A) c.2249+492T>A (n.2249+492T>A) c.*2114T>A (n.*2114T>A) c.159T>A (p.Val53=) c.2480+492T>A (n.2480+492T>A) c.2517T>A (p.Val839=) c.2454T>A (p.Val818=) n.1488T>A c.2523T>A (p.Val841=) | |
1 | g.6468551A= | CA1151518804 | PLEKHG5 | c.2285T= (p.Val762=) c.2459T= (p.Val820=) c.2396T= (p.Val799=) n.2761T= c.2492T= (p.Val831=) c.2582T= (p.Val861=) c.*2497T= (n.*2497T=) c.2249+491T= (n.2249+491T=) c.*2113T= (n.*2113T=) c.158T= (p.Val53=) c.2480+491T= (n.2480+491T=) c.2516T= (p.Val839=) c.2453T= (p.Val818=) n.1487T= c.2522T= (p.Val841=) | |
1 | g.6468551A>C | CA338117821 | PLEKHG5 | c.2285T>G (p.Val762Gly) c.2459T>G (p.Val820Gly) c.2396T>G (p.Val799Gly) n.2761T>G c.2492T>G (p.Val831Gly) c.2582T>G (p.Val861Gly) c.*2497T>G (n.*2497T>G) c.2249+491T>G (n.2249+491T>G) c.*2113T>G (n.*2113T>G) c.158T>G (p.Val53Gly) c.2480+491T>G (n.2480+491T>G) c.2516T>G (p.Val839Gly) c.2453T>G (p.Val818Gly) n.1487T>G c.2522T>G (p.Val841Gly) | |
1 | g.6468551A>G | CA338117822 | PLEKHG5 | c.2285T>C (p.Val762Ala) c.2459T>C (p.Val820Ala) c.2396T>C (p.Val799Ala) n.2761T>C c.2492T>C (p.Val831Ala) c.2582T>C (p.Val861Ala) c.*2497T>C (n.*2497T>C) c.2249+491T>C (n.2249+491T>C) c.*2113T>C (n.*2113T>C) c.158T>C (p.Val53Ala) c.2480+491T>C (n.2480+491T>C) c.2516T>C (p.Val839Ala) c.2453T>C (p.Val818Ala) n.1487T>C c.2522T>C (p.Val841Ala) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.6468551A>T | CA338117823 | PLEKHG5 | c.2285T>A (p.Val762Asp) c.2459T>A (p.Val820Asp) c.2396T>A (p.Val799Asp) n.2761T>A c.2492T>A (p.Val831Asp) c.2582T>A (p.Val861Asp) c.*2497T>A (n.*2497T>A) c.2249+491T>A (n.2249+491T>A) c.*2113T>A (n.*2113T>A) c.158T>A (p.Val53Asp) c.2480+491T>A (n.2480+491T>A) c.2516T>A (p.Val839Asp) c.2453T>A (p.Val818Asp) n.1487T>A c.2522T>A (p.Val841Asp) | |
1 | g.6468552C>A | CA338117824 | PLEKHG5 | c.2284G>T (p.Val762Phe) c.2458G>T (p.Val820Phe) c.2395G>T (p.Val799Phe) n.2760G>T c.2491G>T (p.Val831Phe) c.2581G>T (p.Val861Phe) c.*2496G>T (n.*2496G>T) c.2249+490G>T (n.2249+490G>T) c.*2112G>T (n.*2112G>T) c.157G>T (p.Val53Phe) c.2480+490G>T (n.2480+490G>T) c.2515G>T (p.Val839Phe) c.2452G>T (p.Val818Phe) n.1486G>T c.2521G>T (p.Val841Phe) | |
1 | g.6468552C= | CA1151518812 | PLEKHG5 | c.2284G= (p.Val762=) c.2458G= (p.Val820=) c.2395G= (p.Val799=) n.2760G= c.2491G= (p.Val831=) c.2581G= (p.Val861=) c.*2496G= (n.*2496G=) c.2249+490G= (n.2249+490G=) c.*2112G= (n.*2112G=) c.157G= (p.Val53=) c.2480+490G= (n.2480+490G=) c.2515G= (p.Val839=) c.2452G= (p.Val818=) n.1486G= c.2521G= (p.Val841=) | |
1 | g.6468552C>G | CA338117825 | PLEKHG5 | c.2284G>C (p.Val762Leu) c.2458G>C (p.Val820Leu) c.2395G>C (p.Val799Leu) n.2760G>C c.2491G>C (p.Val831Leu) c.2581G>C (p.Val861Leu) c.*2496G>C (n.*2496G>C) c.2249+490G>C (n.2249+490G>C) c.*2112G>C (n.*2112G>C) c.157G>C (p.Val53Leu) c.2480+490G>C (n.2480+490G>C) c.2515G>C (p.Val839Leu) c.2452G>C (p.Val818Leu) n.1486G>C c.2521G>C (p.Val841Leu) | |
1 | g.6468552C>T | CA338117826 | PLEKHG5 | c.2284G>A (p.Val762Ile) c.2458G>A (p.Val820Ile) c.2395G>A (p.Val799Ile) n.2760G>A c.2491G>A (p.Val831Ile) c.2581G>A (p.Val861Ile) c.*2496G>A (n.*2496G>A) c.2249+490G>A (n.2249+490G>A) c.*2112G>A (n.*2112G>A) c.157G>A (p.Val53Ile) c.2480+490G>A (n.2480+490G>A) c.2515G>A (p.Val839Ile) c.2452G>A (p.Val818Ile) n.1486G>A c.2521G>A (p.Val841Ile) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.6468553C>A | CA338117827 | PLEKHG5 | c.2283G>T (p.Met761Ile) c.2457G>T (p.Met819Ile) c.2394G>T (p.Met798Ile) n.2759G>T c.2490G>T (p.Met830Ile) c.2580G>T (p.Met860Ile) c.*2495G>T (n.*2495G>T) c.2249+489G>T (n.2249+489G>T) c.*2111G>T (n.*2111G>T) c.156G>T (p.Met52Ile) c.2480+489G>T (n.2480+489G>T) c.2514G>T (p.Met838Ile) c.2451G>T (p.Met817Ile) n.1485G>T c.2520G>T (p.Met840Ile) | |
1 | g.6468553C>G | CA338117828 | PLEKHG5 | c.2283G>C (p.Met761Ile) c.2457G>C (p.Met819Ile) c.2394G>C (p.Met798Ile) n.2759G>C c.2490G>C (p.Met830Ile) c.2580G>C (p.Met860Ile) c.*2495G>C (n.*2495G>C) c.2249+489G>C (n.2249+489G>C) c.*2111G>C (n.*2111G>C) c.156G>C (p.Met52Ile) c.2480+489G>C (n.2480+489G>C) c.2514G>C (p.Met838Ile) c.2451G>C (p.Met817Ile) n.1485G>C c.2520G>C (p.Met840Ile) | |
1 | g.6468553C>T | CA338117829 | PLEKHG5 | c.2283G>A (p.Met761Ile) c.2457G>A (p.Met819Ile) c.2394G>A (p.Met798Ile) n.2759G>A c.2490G>A (p.Met830Ile) c.2580G>A (p.Met860Ile) c.*2495G>A (n.*2495G>A) c.2249+489G>A (n.2249+489G>A) c.*2111G>A (n.*2111G>A) c.156G>A (p.Met52Ile) c.2480+489G>A (n.2480+489G>A) c.2514G>A (p.Met838Ile) c.2451G>A (p.Met817Ile) n.1485G>A c.2520G>A (p.Met840Ile) | |
1 | g.6468554A>C | CA338117830 | PLEKHG5 | c.2282T>G (p.Met761Arg) c.2456T>G (p.Met819Arg) c.2393T>G (p.Met798Arg) n.2758T>G c.2489T>G (p.Met830Arg) c.2579T>G (p.Met860Arg) c.*2494T>G (n.*2494T>G) c.2249+488T>G (n.2249+488T>G) c.*2110T>G (n.*2110T>G) c.155T>G (p.Met52Arg) c.2480+488T>G (n.2480+488T>G) c.2513T>G (p.Met838Arg) c.2450T>G (p.Met817Arg) n.1484T>G c.2519T>G (p.Met840Arg) | |
1 | g.6468554A>G | CA338117831 | PLEKHG5 | c.2282T>C (p.Met761Thr) c.2456T>C (p.Met819Thr) c.2393T>C (p.Met798Thr) n.2758T>C c.2489T>C (p.Met830Thr) c.2579T>C (p.Met860Thr) c.*2494T>C (n.*2494T>C) c.2249+488T>C (n.2249+488T>C) c.*2110T>C (n.*2110T>C) c.155T>C (p.Met52Thr) c.2480+488T>C (n.2480+488T>C) c.2513T>C (p.Met838Thr) c.2450T>C (p.Met817Thr) n.1484T>C c.2519T>C (p.Met840Thr) | |
1 | g.6468554A>T | CA338117832 | PLEKHG5 | c.2282T>A (p.Met761Lys) c.2456T>A (p.Met819Lys) c.2393T>A (p.Met798Lys) n.2758T>A c.2489T>A (p.Met830Lys) c.2579T>A (p.Met860Lys) c.*2494T>A (n.*2494T>A) c.2249+488T>A (n.2249+488T>A) c.*2110T>A (n.*2110T>A) c.155T>A (p.Met52Lys) c.2480+488T>A (n.2480+488T>A) c.2513T>A (p.Met838Lys) c.2450T>A (p.Met817Lys) n.1484T>A c.2519T>A (p.Met840Lys) | |
1 | g.6468555T>A | CA338117834 | PLEKHG5 | c.2281A>T (p.Met761Leu) c.2455A>T (p.Met819Leu) c.2392A>T (p.Met798Leu) n.2757A>T c.2488A>T (p.Met830Leu) c.2578A>T (p.Met860Leu) c.*2493A>T (n.*2493A>T) c.2249+487A>T (n.2249+487A>T) c.*2109A>T (n.*2109A>T) c.154A>T (p.Met52Leu) c.2480+487A>T (n.2480+487A>T) c.2512A>T (p.Met838Leu) c.2449A>T (p.Met817Leu) n.1483A>T c.2518A>T (p.Met840Leu) | |
1 | g.6468555T>C | CA16603736 | PLEKHG5 | c.2281A>G (p.Met761Val) c.2455A>G (p.Met819Val) c.2392A>G (p.Met798Val) n.2757A>G c.2488A>G (p.Met830Val) c.2578A>G (p.Met860Val) c.*2493A>G (n.*2493A>G) c.2249+487A>G (n.2249+487A>G) c.*2109A>G (n.*2109A>G) c.154A>G (p.Met52Val) c.2480+487A>G (n.2480+487A>G) c.2512A>G (p.Met838Val) c.2449A>G (p.Met817Val) n.1483A>G c.2518A>G (p.Met840Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.6468555T>G | CA338117833 | PLEKHG5 | c.2281A>C (p.Met761Leu) c.2455A>C (p.Met819Leu) c.2392A>C (p.Met798Leu) n.2757A>C c.2488A>C (p.Met830Leu) c.2578A>C (p.Met860Leu) c.*2493A>C (n.*2493A>C) c.2249+487A>C (n.2249+487A>C) c.*2109A>C (n.*2109A>C) c.154A>C (p.Met52Leu) c.2480+487A>C (n.2480+487A>C) c.2512A>C (p.Met838Leu) c.2449A>C (p.Met817Leu) n.1483A>C c.2518A>C (p.Met840Leu) | |
1 | g.6468555T= | CA1143495962 | PLEKHG5 | c.2281A= (p.Met761=) c.2455A= (p.Met819=) c.2392A= (p.Met798=) n.2757A= c.2488A= (p.Met830=) c.2578A= (p.Met860=) c.*2493A= (n.*2493A=) c.2249+487A= (n.2249+487A=) c.*2109A= (n.*2109A=) c.154A= (p.Met52=) c.2480+487A= (n.2480+487A=) c.2512A= (p.Met838=) c.2449A= (p.Met817=) n.1483A= c.2518A= (p.Met840=) | |
1 | g.6468556G>A | CA416022308 | PLEKHG5 | c.2280C>T (p.Ala760=) c.2454C>T (p.Ala818=) c.2391C>T (p.Ala797=) n.2756C>T c.2487C>T (p.Ala829=) c.2577C>T (p.Ala859=) c.*2492C>T (n.*2492C>T) c.2249+486C>T (n.2249+486C>T) c.*2108C>T (n.*2108C>T) c.153C>T (p.Ala51=) c.2480+486C>T (n.2480+486C>T) c.2511C>T (p.Ala837=) c.2448C>T (p.Ala816=) n.1482C>T c.2517C>T (p.Ala839=) | ClinVar dbSNP gnomAD v4 |
1 | g.6468556G>C | CA416022310 | PLEKHG5 | c.2280C>G (p.Ala760=) c.2454C>G (p.Ala818=) c.2391C>G (p.Ala797=) n.2756C>G c.2487C>G (p.Ala829=) c.2577C>G (p.Ala859=) c.*2492C>G (n.*2492C>G) c.2249+486C>G (n.2249+486C>G) c.*2108C>G (n.*2108C>G) c.153C>G (p.Ala51=) c.2480+486C>G (n.2480+486C>G) c.2511C>G (p.Ala837=) c.2448C>G (p.Ala816=) n.1482C>G c.2517C>G (p.Ala839=) | |
1 | g.6468556G>T | CA416022307 | PLEKHG5 | c.2280C>A (p.Ala760=) c.2454C>A (p.Ala818=) c.2391C>A (p.Ala797=) n.2756C>A c.2487C>A (p.Ala829=) c.2577C>A (p.Ala859=) c.*2492C>A (n.*2492C>A) c.2249+486C>A (n.2249+486C>A) c.*2108C>A (n.*2108C>A) c.153C>A (p.Ala51=) c.2480+486C>A (n.2480+486C>A) c.2511C>A (p.Ala837=) c.2448C>A (p.Ala816=) n.1482C>A c.2517C>A (p.Ala839=) | |
1 | g.6468557G>A | CA338117835 | PLEKHG5 | c.2279C>T (p.Ala760Val) c.2453C>T (p.Ala818Val) c.2390C>T (p.Ala797Val) n.2755C>T c.2486C>T (p.Ala829Val) c.2576C>T (p.Ala859Val) c.*2491C>T (n.*2491C>T) c.2249+485C>T (n.2249+485C>T) c.*2107C>T (n.*2107C>T) c.152C>T (p.Ala51Val) c.2480+485C>T (n.2480+485C>T) c.2510C>T (p.Ala837Val) c.2447C>T (p.Ala816Val) n.1481C>T c.2516C>T (p.Ala839Val) | ClinVar dbSNP gnomAD v4 |
1 | g.6468557G>C | CA338117836 | PLEKHG5 | c.2279C>G (p.Ala760Gly) c.2453C>G (p.Ala818Gly) c.2390C>G (p.Ala797Gly) n.2755C>G c.2486C>G (p.Ala829Gly) c.2576C>G (p.Ala859Gly) c.*2491C>G (n.*2491C>G) c.2249+485C>G (n.2249+485C>G) c.*2107C>G (n.*2107C>G) c.152C>G (p.Ala51Gly) c.2480+485C>G (n.2480+485C>G) c.2510C>G (p.Ala837Gly) c.2447C>G (p.Ala816Gly) n.1481C>G c.2516C>G (p.Ala839Gly) | |
1 | g.6468557G= | CA1151518828 | PLEKHG5 | c.2279C= (p.Ala760=) c.2453C= (p.Ala818=) c.2390C= (p.Ala797=) n.2755C= c.2486C= (p.Ala829=) c.2576C= (p.Ala859=) c.*2491C= (n.*2491C=) c.2249+485C= (n.2249+485C=) c.*2107C= (n.*2107C=) c.152C= (p.Ala51=) c.2480+485C= (n.2480+485C=) c.2510C= (p.Ala837=) c.2447C= (p.Ala816=) n.1481C= c.2516C= (p.Ala839=) | |
1 | g.6468557G>T | CA338117837 | PLEKHG5 | c.2279C>A (p.Ala760Asp) c.2453C>A (p.Ala818Asp) c.2390C>A (p.Ala797Asp) n.2755C>A c.2486C>A (p.Ala829Asp) c.2576C>A (p.Ala859Asp) c.*2491C>A (n.*2491C>A) c.2249+485C>A (n.2249+485C>A) c.*2107C>A (n.*2107C>A) c.152C>A (p.Ala51Asp) c.2480+485C>A (n.2480+485C>A) c.2510C>A (p.Ala837Asp) c.2447C>A (p.Ala816Asp) n.1481C>A c.2516C>A (p.Ala839Asp) | |
1 | g.6468557_6468558delinsGC | CA1151518827 | PLEKHG5 | c.2278_2279delinsGC (p.Ala760=) c.2452_2453delinsGC (p.Ala818=) c.2389_2390delinsGC (p.Ala797=) n.2754_2755delinsGC c.2485_2486delinsGC (p.Ala829=) c.2575_2576delinsGC (p.Ala859=) c.*2490_*2491delinsGC (n.*2490_*2491delinsGC) c.2249+484_2249+485delinsGC (n.2249+484_2249+485delinsGC) c.*2106_*2107delinsGC (n.*2106_*2107delinsGC) c.151_152delinsGC (p.Ala51=) c.2480+484_2480+485delinsGC (n.2480+484_2480+485delinsGC) c.2509_2510delinsGC (p.Ala837=) c.2446_2447delinsGC (p.Ala816=) n.1480_1481delinsGC c.2515_2516delinsGC (p.Ala839=) |