Variant ID | cDot | pDot | Consequence | Exon | Intron | Reference Count |
---|---|---|---|---|---|---|
1-62703236-A-C | c.*713T>G | - | 3-UTRSNV | 10/10 | - | 1 |
1-62703951-A-G | c.2986T>C | p.*996Qext*22 | Missense | 10/10 | - | 1 |
1-62703952-C-T | c.2985G>A | p.L995= | Synonymous | 10/10 | - | 1 |
1-62703954-G-A | c.2983C>T | p.L995= | Synonymous | 10/10 | - | 1 |
1-62703959-A-C | c.2978T>G | p.L993R | Missense | 10/10 | - | 1 |
1-62703962-G-A | c.2975C>T | p.S992F | Missense | 10/10 | - | 3 |
1-62703964-C-A | c.2973G>T | p.R991S | Missense | 10/10 | - | 1 |
1-62703964-C-G | c.2973G>C | p.R991S | Missense | 10/10 | - | 1 |
1-62703964-C-T | c.2973G>A | p.R991= | Synonymous | 10/10 | - | 1 |
1-62703966-T-A | c.2971A>T | p.R991W | Missense | 10/10 | - | 1 |
1-62703968-C-A | c.2969G>T | p.G990V | Missense | 10/10 | - | 2 |
1-62703975-C-G | c.2962G>C | p.E988Q | Missense | 10/10 | - | 1 |
1-62703976-C-T | c.2961G>A | p.A987= | Synonymous | 10/10 | - | 3 |
1-62703977-G-A | c.2960C>T | p.A987V | Missense | 10/10 | - | 11 |
1-62703978-C-T | c.2959G>A | p.A987T | Missense | 10/10 | - | 3 |
1-62703982-G-A | c.2955C>T | p.A985= | Synonymous | 10/10 | - | 1 |
1-62703987-T-C | c.2950A>G | p.R984G | Missense | 10/10 | - | 1 |
1-62703988-C-A | c.2949G>T | p.L983= | Synonymous | 10/10 | - | 1 |
1-62703988-C-G | c.2949G>C | p.L983= | Synonymous | 10/10 | - | 1 |
1-62703988-C-T | c.2949G>A | p.L983= | Synonymous | 10/10 | - | 1 |
1-62703990-G-A | c.2947C>T | p.L983= | Synonymous | 10/10 | - | 2 |
1-62703993-G-A | c.2944C>T | p.L982F | Missense | 10/10 | - | 4 |
1-62703995-C-G | c.2942G>C | p.G981A | Missense | 10/10 | - | 2 |
1-62703999-C-T | c.2938G>A | p.A980T | Missense | 10/10 | - | 1 |
1-62704003-T-A | c.2934A>T | p.E978D | Missense | 10/10 | - | 2 |
1-62704005-C-T | c.2932G>A | p.E978K | Missense | 10/10 | - | 2 |
1-62704007-A-T | c.2930T>A | p.M977K | Missense | 10/10 | - | 2 |
1-62704011-G-C | c.2926C>G | p.H976D | Missense | 10/10 | - | 1 |
1-62704012-G-A | c.2925C>T | p.T975= | Synonymous | 10/10 | - | 2 |
1-62704013-G-A | c.2924C>T | p.T975I | Missense | 10/10 | - | 2 |
1-62704015-G-T | c.2922C>A | p.P974= | Synonymous | 10/10 | - | 2 |
1-62704016-G-A | c.2921C>T | p.P974L | Missense | 10/10 | - | 1 |
1-62704024-C-A | c.2913G>T | p.L971= | Synonymous | 10/10 | - | 1 |
1-62704024-C-G | c.2913G>C | p.L971= | Synonymous | 10/10 | - | 1 |
1-62704024-C-T | c.2913G>A | p.L971= | Synonymous | 10/10 | - | 1 |
1-62704026-G-A | c.2911C>T | p.L971= | Synonymous | 10/10 | - | 1 |
1-62704028-G-T | c.2909C>A | p.A970D | Missense | 10/10 | - | 1 |
1-62704029-C-T | c.2908G>A | p.A970T | Missense | 10/10 | - | 1 |
1-62704035-A-G | c.2902T>C | p.S968P | Missense | 10/10 | - | 1 |
1-62704046-C-T | c.2891G>A | p.R964H | Missense | 10/10 | - | 2 |
1-62704047-G-A | c.2890C>T | p.R964C | Missense | 10/10 | - | 2 |
1-62704134-A-C | c.2884-81T>G | - | IntronicSNV | - | 9/9 | 5 |
1-62704134-A-G | c.2884-81T>C | - | IntronicSNV | - | 9/9 | 5 |
1-62704325-G-T | c.2884-272C>A | - | IntronicSNV | - | 9/9 | 1 |
1-62707613-C-T | c.2884-3560G>A | - | IntronicSNV | - | 9/9 | 1 |
1-62712814-T-C | c.2883+330A>G | - | IntronicSNV | - | 9/9 | 1 |
1-62712976-CT-C | c.2883+167del | - | IntronicDeletion | - | 9/9 | 1 |
1-62713000-G-A | c.2883+144C>T | - | IntronicSNV | - | 9/9 | 1 |
1-62713000-G-T | c.2883+144C>A | - | IntronicSNV | - | 9/9 | 1 |
1-62713031-C-T | c.2883+113G>A | - | IntronicSNV | - | 9/9 | 1 |
1-62713041-G-A | c.2883+103C>T | - | IntronicSNV | - | 9/9 | 1 |
1-62713042-G-C | c.2883+102C>G | - | IntronicSNV | - | 9/9 | 1 |
1-62713147-G-GA | c.2879_2880insT | p.K961Qfs*86 | Frameshift | 9/10 | - | 1 |
1-62713149-C-T | c.2878G>A | p.D960N | Missense | 9/10 | - | 1 |
1-62713153-CAG-AAA | c.2872_2874delinsTTT | p.L958F | Missense | 9/10 | - | 1 |
1-62713157-C-A | c.2870G>T | p.S957I | Missense | 9/10 | - | 1 |
1-62713163-T-C | c.2864A>G | p.D955G | Missense | 9/10 | - | 1 |
1-62713164-C-T | c.2863G>A | p.D955N | Missense | 9/10 | - | 3 |
1-62713165-G-A | c.2862C>T | p.C954= | Synonymous | 9/10 | - | 3 |
1-62713173-G-A | c.2854C>T | p.P952S | Missense | 9/10 | - | 1 |
1-62713182-G-T | c.2845C>A | p.L949M | Missense | 9/10 | - | 3 |
1-62713183-G-T | c.2844C>A | p.L948= | Synonymous | 9/10 | - | 2 |
1-62713187-AG-GA | c.2839_2840delinsTC | p.L947S | Missense | 9/10 | - | 1 |
1-62713189-C-T | c.2838G>A | p.R946= | Synonymous | 9/10 | - | 1 |
1-62713191-G-A | c.2836C>T | p.R946W | Missense | 9/10 | - | 3 |
1-62713192-C-T | c.2835G>A | p.V945= | Synonymous | 9/10 | - | 1 |
1-62713204-G-A | c.2823C>T | p.N941= | Synonymous | 9/10 | - | 1 |
1-62713209-C-T | c.2818G>A | p.G940S | Missense | 9/10 | - | 3 |
1-62713212-G-A | c.2815C>T | p.H939Y | Missense | 9/10 | - | 2 |
1-62713215-G-A | c.2812C>T | p.H938Y | Missense | 9/10 | - | 1 |
1-62713222-C-A | c.2805G>T | p.V935= | Synonymous | 9/10 | - | 1 |
1-62713222-C-G | c.2805G>C | p.V935= | Synonymous | 9/10 | - | 1 |
1-62713222-C-T | c.2805G>A | p.V935= | Synonymous | 9/10 | - | 2 |
1-62713223-A-G | c.2804T>C | p.V935A | Missense | 9/10 | - | 1 |
1-62713224-C-A | c.2803G>T | p.V935L | Missense | 9/10 | - | 30 |
1-62713224-C-G | c.2803G>C | p.V935L | Missense | 9/10 | - | 34 |
1-62713228-G-A | c.2799C>T | p.L933= | Synonymous | 9/10 | - | 1 |
1-62713232-G-T | c.2795C>A | p.A932D | Missense | 9/10 | - | 2 |
1-62713237-G-A | c.2790C>T | p.S930= | Synonymous | 9/10 | - | 1 |
1-62713237-G-C | c.2790C>G | p.S930= | Synonymous | 9/10 | - | 1 |
1-62713237-G-T | c.2790C>A | p.S930= | Synonymous | 9/10 | - | 1 |
1-62713238-G-A | c.2789C>T | p.S930F | Missense | 9/10 | - | 4 |
1-62713245-C-A | c.2782G>T | p.D928Y | Missense | 9/10 | - | 1 |
1-62713245-C-T | c.2782G>A | p.D928N | Missense | 9/10 | - | 4 |
1-62713246-G-A | c.2781C>T | p.H927= | Synonymous | 9/10 | - | 13 |
1-62713251-C-T | c.2776G>A | p.D926N | Missense | 9/10 | - | 7 |
1-62713252-C-T | c.2775G>A | p.Q925= | Synonymous | 9/10 | - | 1 |
1-62713261-G-A | c.2766C>T | p.V922= | Synonymous | 9/10 | - | 1 |
1-62713261-G-C | c.2766C>G | p.V922= | Synonymous | 9/10 | - | 1 |
1-62713261-G-T | c.2766C>A | p.V922= | Synonymous | 9/10 | - | 1 |
1-62713266-C-A | c.2761G>T | p.D921Y | Missense | 9/10 | - | 1 |
1-62713266-C-T | c.2761G>A | p.D921N | Missense | 9/10 | - | 1 |
1-62713268-G-C | c.2759C>G | p.A920G | Missense | 9/10 | - | 1 |
1-62713275-A-C | c.2752T>G | p.C918G | Missense | 9/10 | - | 1 |
1-62713278-T-C | c.2749A>G | p.S917G | Missense | 9/10 | - | 1 |
1-62713285-C-A | c.2742G>T | p.A914= | Synonymous | 9/10 | - | 1 |
1-62713285-C-G | c.2742G>C | p.A914= | Synonymous | 9/10 | - | 1 |
1-62713285-C-T | c.2742G>A | p.A914= | Synonymous | 9/10 | - | 1 |
1-62713287-C-T | c.2740G>A | p.A914T | Missense | 9/10 | - | 1 |
1-62713303-C-A | c.2724G>T | p.R908S | Missense | 9/10 | - | 1 |
1-62713305-T-C | c.2722A>G | p.R908G | Missense | 9/10 | - | 1 |
1-62713306-G-A | c.2721C>T | p.D907= | Synonymous | 9/10 | - | 1 |
1-62713308-C-T | c.2719G>A | p.D907N | Missense | 9/10 | - | 7 |
1-62713320-C-A | c.2707G>T | p.G903* | Nonsense | 9/10 | - | 1 |
1-62713327-C-A | c.2700G>T | p.L900= | Synonymous | 9/10 | - | 1 |
1-62713327-C-G | c.2700G>C | p.L900= | Synonymous | 9/10 | - | 1 |
1-62713327-C-T | c.2700G>A | p.L900= | Synonymous | 9/10 | - | 1 |
1-62713329-G-A | c.2698C>T | p.L900= | Synonymous | 9/10 | - | 1 |
1-62713334-G-A | c.2693C>T | p.T898I | Missense | 9/10 | - | 1 |
1-62713337-T-C | c.2690A>G | p.Q897R | Missense | 9/10 | - | 1 |
1-62713469-T-C | c.2683-125A>G | - | IntronicSNV | - | 8/9 | 1 |
1-62716386-A-G | c.2682+2353T>C | - | IntronicSNV | - | 8/9 | 1 |
1-62718708-C-T | c.2682+31G>A | - | IntronicSNV | - | 8/9 | 1 |
1-62718734-C-T | c.2682+5G>A | - | IntronicSNV | - | 8/9 | 1 |
1-62718736-C-T | c.2682+3G>A | - | IntronicSNV | - | 8/9 | 1 |
1-62718739-C-A | c.2682G>T | p.Q894H | Missense | 8/10 | - | 1 |
1-62718739-C-G | c.2682G>C | p.Q894H | Missense | 8/10 | - | 1 |
1-62718762-T-C | c.2659A>G | p.N887D | Missense | 8/10 | - | 1 |
1-62718764-C-T | c.2657G>A | p.G886E | Missense | 8/10 | - | 2 |
1-62718765-C-A | c.2656G>T | p.G886* | Nonsense | 8/10 | - | 1 |
1-62718765-C-G | c.2656G>C | p.G886R | Missense | 8/10 | - | 1 |
1-62718765-C-T | c.2656G>A | p.G886R | Missense | 8/10 | - | 1 |
1-62718769-TC-CA | c.2651_2652delinsTG | p.R884M | Missense | 8/10 | - | 1 |
1-62718770-C-A | c.2651G>T | p.R884I | Missense | 8/10 | - | 1 |
1-62718770-C-T | c.2651G>A | p.R884K | Missense | 8/10 | - | 1 |
1-62718781-C-T | c.2640G>A | p.W880* | Nonsense | 8/10 | - | 7 |
1-62718782-C-T | c.2639G>A | p.W880* | Nonsense | 8/10 | - | 2 |
1-62718786-C-A | c.2635G>T | p.V879F | Missense | 8/10 | - | 1 |
1-62718788-A-C | c.2633T>G | p.V878G | Missense | 8/10 | - | 1 |
1-62718789-C-A | c.2632G>T | p.V878F | Missense | 8/10 | - | 1 |
1-62718789-C-T | c.2632G>A | p.V878I | Missense | 8/10 | - | 2 |
1-62718796-G-T | c.2625C>A | p.D875E | Missense | 8/10 | - | 1 |
1-62718798-C-G | c.2623G>C | p.D875H | Missense | 8/10 | - | 1 |
1-62718803-T-A | c.2618A>T | p.N873I | Missense | 8/10 | - | 2 |
1-62718804-T-C | c.2617A>G | p.N873D | Missense | 8/10 | - | 1 |
1-62718808-C-T | c.2613G>A | p.E871= | Synonymous | 8/10 | - | 2 |
1-62718817-A-C | c.2604T>G | p.A868= | Synonymous | 8/10 | - | 1 |
1-62718817-A-G | c.2604T>C | p.A868= | Synonymous | 8/10 | - | 1 |
1-62718817-AG-CT | c.2603_2604inv | p.A868E | Missense | 8/10 | - | 1 |
1-62718817-A-T | c.2604T>A | p.A868= | Synonymous | 8/10 | - | 1 |
1-62718824-G-A | c.2597C>T | p.P866L | Missense | 8/10 | - | 1 |
1-62718827-G-A | c.2594C>T | p.T865I | Missense | 8/10 | - | 1 |
1-62718830-A-G | c.2591T>C | p.I864T | Missense | 8/10 | - | 3 |
1-62718833-A-G | c.2588T>C | p.M863T | Missense | 8/10 | - | 1 |
1-62718834-T-C | c.2587A>G | p.M863V | Missense | 8/10 | - | 3 |
1-62718837-C-T | c.2584G>A | p.V862I | Missense | 8/10 | - | 1 |
1-62718859-C-A | c.2562G>T | p.Q854H | Missense | 8/10 | - | 1 |
1-62718859-C-G | c.2562G>C | p.Q854H | Missense | 8/10 | - | 1 |
1-62718861-G-T | c.2560C>A | p.Q854K | Missense | 8/10 | - | 4 |
1-62718864-G-A | c.2557C>T | p.H853Y | Missense | 8/10 | - | 2 |
1-62718867-C-A | c.2554G>T | p.D852Y | Missense | 8/10 | - | 1 |
1-62718868-C-T | c.2553G>A | p.V851= | Synonymous | 8/10 | - | 1 |
1-62718875-C-T | c.2546G>A | p.C849Y | Missense | 8/10 | - | 2 |
1-62718878-A-G | c.2543T>C | p.V848A | Missense | 8/10 | - | 1 |
1-62718879-C-T | c.2542G>A | p.V848I | Missense | 8/10 | - | 3 |
1-62718880-G-A | c.2541C>T | p.G847= | Synonymous | 8/10 | - | 2 |
1-62718880-G-C | c.2541C>G | p.G847= | Synonymous | 8/10 | - | 1 |
1-62718880-G-T | c.2541C>A | p.G847= | Synonymous | 8/10 | - | 2 |
1-62718881-C-T | c.2540G>A | p.G847D | Missense | 8/10 | - | 1 |
1-62719839-A-G | c.2540-958T>C | - | IntronicSNV | - | 7/9 | 1 |
1-62720129-G-A | c.2540-1248C>T | - | IntronicSNV | - | 7/9 | 1 |
1-62720129-G-C | c.2540-1248C>G | - | IntronicSNV | - | 7/9 | 1 |
1-62720129-G-T | c.2540-1248C>A | - | IntronicSNV | - | 7/9 | 1 |
1-62723566-C-T | c.2540-4685G>A | - | IntronicSNV | - | 7/9 | 1 |
1-62724834-C-T | c.2539+3930G>A | - | IntronicSNV | - | 7/9 | 1 |
1-62725809-T-G | c.2539+2955A>C | - | IntronicSNV | - | 7/9 | 1 |
1-62727545-G-T | c.2539+1219C>A | - | IntronicSNV | - | 7/9 | 1 |
1-62727596-T-C | c.2539+1168A>G | - | IntronicSNV | - | 7/9 | 1 |
1-62728596-T-C | c.2539+168A>G | - | IntronicSNV | - | 7/9 | 2 |
1-62728596-T-G | c.2539+168A>C | - | IntronicSNV | - | 7/9 | 1 |
1-62728628-C-T | c.2539+136G>A | - | IntronicSNV | - | 7/9 | 4 |
1-62728767-T-C | c.2536A>G | p.T846A | Missense | 7/10 | - | 1 |
1-62728768-C-T | c.2535G>A | p.E845= | Synonymous | 7/10 | - | 1 |
1-62728770-C-G | c.2533G>C | p.E845Q | Missense | 7/10 | - | 1 |
1-62728770-C-T | c.2533G>A | p.E845K | Missense | 7/10 | - | 3 |
1-62728774-C-A | c.2529G>T | p.L843= | Synonymous | 7/10 | - | 1 |
1-62728774-C-G | c.2529G>C | p.L843= | Synonymous | 7/10 | - | 1 |
1-62728774-C-T | c.2529G>A | p.L843= | Synonymous | 7/10 | - | 1 |
1-62728776-G-A | c.2527C>T | p.L843= | Synonymous | 7/10 | - | 1 |
1-62728783-C-A | c.2520G>T | p.V840= | Synonymous | 7/10 | - | 4 |
1-62728783-C-G | c.2520G>C | p.V840= | Synonymous | 7/10 | - | 4 |
1-62728783-C-T | c.2520G>A | p.V840= | Synonymous | 7/10 | - | 7 |
1-62728784-A-C | c.2519T>G | p.V840G | Missense | 7/10 | - | 6 |
1-62728784-A-G | c.2519T>C | p.V840A | Missense | 7/10 | - | 36 |
1-62728785-AC-A | c.2518del | p.V840* | Frameshift | 7/10 | - | 1 |
1-62728792-G-T | c.2511C>A | p.F837L | Missense | 7/10 | - | 1 |
1-62728810-G-A | c.2493C>T | p.S831= | Synonymous | 7/10 | - | 5 |
1-62728813-G-A | c.2490C>T | p.Y830= | Synonymous | 7/10 | - | 1 |
1-62728824-C-T | c.2479G>A | p.A827T | Missense | 7/10 | - | 4 |
1-62728825-C-T | c.2478G>A | p.T826= | Synonymous | 7/10 | - | 1 |
1-62728827-T-A | c.2476A>T | p.T826S | Missense | 7/10 | - | 1 |
1-62728833-C-G | c.2470G>C | p.G824R | Missense | 7/10 | - | 2 |
1-62728833-C-T | c.2470G>A | p.G824R | Missense | 7/10 | - | 2 |
1-62728837-G-A | c.2466C>T | p.H822= | Synonymous | 7/10 | - | 2 |
1-62728838-T-A | c.2465A>T | p.H822L | Missense | 7/10 | - | 9 |
1-62728838-T-C | c.2465A>G | p.H822R | Missense | 7/10 | - | 39 |
1-62728839-G-A | c.2464C>T | p.H822Y | Missense | 7/10 | - | 2 |
1-62728842-C-A | c.2461G>T | p.D821Y | Missense | 7/10 | - | 1 |
1-62728842-C-T | c.2461G>A | p.D821N | Missense | 7/10 | - | 2 |
1-62728843-G-A | c.2460C>T | p.A820= | Synonymous | 7/10 | - | 3 |
1-62728843-G-C | c.2460C>G | p.A820= | Synonymous | 7/10 | - | 2 |
1-62728844-G-A | c.2459C>T | p.A820V | Missense | 7/10 | - | 2 |
1-62728860-G-A | c.2443C>T | p.L815= | Synonymous | 7/10 | - | 1 |
1-62728861-T-A | c.2442A>T | p.K814N | Missense | 7/10 | - | 4 |
1-62728861-T-C | c.2442A>G | p.K814= | Synonymous | 7/10 | - | 18 |
1-62728864-C-T | c.2439G>A | p.L813= | Synonymous | 7/10 | - | 2 |
1-62728867-G-A | c.2436C>T | p.F812= | Synonymous | 7/10 | - | 2 |
1-62728893-C-T | c.2410G>A | p.E804K | Missense | 7/10 | - | 6 |
1-62728897-G-T | c.2406C>A | p.L802= | Synonymous | 7/10 | - | 1 |
1-62728901-T-C | c.2402A>G | p.Y801C | Missense | 7/10 | - | 1 |
1-62728902-A-G | c.2401T>C | p.Y801H | Missense | 7/10 | - | 6 |
1-62728904-G-A | c.2399C>T | p.S800F | Missense | 7/10 | - | 1 |
1-62728909-C-T | c.2394G>A | p.V798= | Synonymous | 7/10 | - | 1 |
1-62728911-C-T | c.2392G>A | p.V798M | Missense | 7/10 | - | 2 |
1-62728914-C-T | c.2389G>A | p.V797M | Missense | 7/10 | - | 2 |
1-62728915-G-T | c.2388C>A | p.A796= | Synonymous | 7/10 | - | 1 |
1-62728916-G-A | c.2387C>T | p.A796V | Missense | 7/10 | - | 1 |
1-62728916-G-T | c.2387C>A | p.A796D | Missense | 7/10 | - | 1 |
1-62728917-C-T | c.2386G>A | p.A796T | Missense | 7/10 | - | 2 |
1-62728918-G-A | c.2385C>T | p.P795= | Synonymous | 7/10 | - | 17 |
1-62728918-G-C | c.2385C>G | p.P795= | Synonymous | 7/10 | - | 13 |
1-62728918-G-T | c.2385C>A | p.P795= | Synonymous | 7/10 | - | 13 |
1-62728920-G-A | c.2383C>T | p.P795S | Missense | 7/10 | - | 4 |
1-62728924-A-G | c.2379T>C | p.S793= | Synonymous | 7/10 | - | 3 |
1-62728925-GA-AG | c.2377_2378delinsCT | p.S793L | Missense | 7/10 | - | 1 |
1-62728926-A-T | c.2377T>A | p.S793T | Missense | 7/10 | - | 1 |
1-62728927-C-T | c.2376G>A | p.S792= | Synonymous | 7/10 | - | 1 |
1-62728928-G-A | c.2375C>T | p.S792L | Missense | 7/10 | - | 9 |
1-62728934-C-T | c.2369G>A | p.R790Q | Missense | 7/10 | - | 2 |
1-62728935-G-A | c.2368C>T | p.R790W | Missense | 7/10 | - | 1 |
1-62728939-G-A | c.2364C>T | p.S788= | Synonymous | 7/10 | - | 1 |
1-62728939-G-C | c.2364C>G | p.S788= | Synonymous | 7/10 | - | 1 |
1-62728939-G-T | c.2364C>A | p.S788= | Synonymous | 7/10 | - | 1 |
1-62728940-G-A | c.2363C>T | p.S788F | Missense | 7/10 | - | 3 |
1-62728942-G-A | c.2361C>T | p.V787= | Synonymous | 7/10 | - | 1 |
1-62728944-C-T | c.2359G>A | p.V787I | Missense | 7/10 | - | 2 |
1-62728946-C-T | c.2357G>A | p.R786H | Missense | 7/10 | - | 7 |
1-62728947-G-A | c.2356C>T | p.R786C | Missense | 7/10 | - | 2 |
1-62728957-CTT-C | c.2345_2346del | p.Q782Rfs*12 | Frameshift | 7/10 | - | 1 |
1-62728965-T-A | c.2338A>T | p.I780F | Missense | 7/10 | - | 1 |
1-62728967-G-C | c.2336C>G | p.T779S | Missense | 7/10 | - | 1 |
1-62728970-T-C | c.2333A>G | p.N778S | Missense | 7/10 | - | 1 |
1-62728974-A-C | c.2329T>G | p.L777V | Missense | 7/10 | - | 1 |
1-62728979-T-A | c.2324A>T | p.Q775L | Missense | 7/10 | - | 1 |
1-62729015-G-A | c.2320-32C>T | - | IntronicSNV | - | 6/9 | 9 |
1-62729015-G-T | c.2320-32C>A | - | IntronicSNV | - | 6/9 | 9 |
1-62731996-C-T | c.2319+408G>A | - | IntronicSNV | - | 6/9 | 1 |
1-62732170-A-C | c.2319+234T>G | - | IntronicSNV | - | 6/9 | 2 |
1-62732170-A-G | c.2319+234T>C | - | IntronicSNV | - | 6/9 | 2 |
1-62732170-A-T | c.2319+234T>A | - | IntronicSNV | - | 6/9 | 3 |
1-62732406-A-G | c.2317T>C | p.L773= | Synonymous | 6/10 | - | 1 |
1-62732409-G-C | c.2314C>G | p.L772V | Missense | 6/10 | - | 2 |
1-62732415-C-T | c.2308G>A | p.D770N | Missense | 6/10 | - | 5 |
1-62732417-G-A | c.2306C>T | p.T769I | Missense | 6/10 | - | 2 |
1-62732417-G-T | c.2306C>A | p.T769K | Missense | 6/10 | - | 3 |
1-62732419-G-A | c.2304C>T | p.T768= | Synonymous | 6/10 | - | 1 |
1-62732419-G-C | c.2304C>G | p.T768= | Synonymous | 6/10 | - | 1 |
1-62732419-G-T | c.2304C>A | p.T768= | Synonymous | 6/10 | - | 2 |
1-62732421-T-C | c.2302A>G | p.T768A | Missense | 6/10 | - | 29 |
1-62732422-G-T | c.2301C>A | p.T767= | Synonymous | 6/10 | - | 1 |
1-62732423-G-A | c.2300C>T | p.T767I | Missense | 6/10 | - | 4 |
1-62732429-G-C | c.2294C>G | p.T765S | Missense | 6/10 | - | 1 |
1-62732435-G-A | c.2288C>T | p.P763L | Missense | 6/10 | - | 2 |
1-62732436-G-A | c.2287C>T | p.P763S | Missense | 6/10 | - | 1 |
1-62732443-C-A | c.2280G>T | p.Q760H | Missense | 6/10 | - | 1 |
1-62732443-C-G | c.2280G>C | p.Q760H | Missense | 6/10 | - | 3 |
1-62732443-C-T | c.2280G>A | p.Q760= | Synonymous | 6/10 | - | 1 |
1-62732447-C-T | c.2276G>A | p.S759N | Missense | 6/10 | - | 1 |
1-62732456-C-A | c.2267G>T | p.R756L | Missense | 6/10 | - | 1 |
1-62732457-G-A | c.2266C>T | p.R756W | Missense | 6/10 | - | 2 |
1-62732466-T-A | c.2257A>T | p.N753Y | Missense | 6/10 | - | 1 |
1-62732467-A-C | c.2256T>G | p.L752= | Synonymous | 6/10 | - | 1 |
1-62732467-A-G | c.2256T>C | p.L752= | Synonymous | 6/10 | - | 1 |
1-62732467-A-T | c.2256T>A | p.L752= | Synonymous | 6/10 | - | 1 |
1-62732475-C-A | c.2248G>T | p.E750* | Nonsense | 6/10 | - | 1 |
1-62732478-C-A | c.2245G>T | p.E749* | Nonsense | 6/10 | - | 1 |
1-62732484-G-A | c.2239C>T | p.P747S | Missense | 6/10 | - | 2 |
1-62732485-T-C | c.2238A>G | p.K746= | Synonymous | 6/10 | - | 1 |
1-62733939-G-A | c.2231+20C>T | - | IntronicSNV | - | 5/9 | 7 |
1-62733939-G-C | c.2231+20C>G | - | IntronicSNV | - | 5/9 | 6 |
1-62733957-AC-A | c.2231+1del | - | IntronicDeletion | 5/10 | - | 4 |
1-62733963-C-T | c.2227G>A | p.E743K | Missense | 5/10 | - | 5 |
1-62733965-G-A | c.2225C>T | p.A742V | Missense | 5/10 | - | 1 |
1-62733965-G-C | c.2225C>G | p.A742G | Missense | 5/10 | - | 1 |
1-62733971-G-A | c.2219C>T | p.S740F | Missense | 5/10 | - | 5 |
1-62733977-G-T | c.2213C>A | p.P738H | Missense | 5/10 | - | 1 |
1-62733974-TG-T | c.2215del | p.H739Tfs*20 | Frameshift | 5/10 | - | 1 |
1-62733982-T-C | c.2208A>G | p.E736= | Synonymous | 5/10 | - | 1 |
1-62733984-C-T | c.2206G>A | p.E736K | Missense | 5/10 | - | 4 |
1-62733987-C-T | c.2203G>A | p.E735K | Missense | 5/10 | - | 1 |
1-62733989-C-A | c.2201G>T | p.G734V | Missense | 5/10 | - | 1 |
1-62733992-G-A | c.2198C>T | p.P733L | Missense | 5/10 | - | 1 |
1-62733993-G-A | c.2197C>T | p.P733S | Missense | 5/10 | - | 1 |
1-62733995-C-T | c.2195G>A | p.G732E | Missense | 5/10 | - | 3 |
1-62734001-T-A | c.2189A>T | p.E730V | Missense | 5/10 | - | 2 |
1-62734002-C-T | c.2188G>A | p.E730K | Missense | 5/10 | - | 2 |
1-62734006-G-A | c.2184C>T | p.A728= | Synonymous | 5/10 | - | 1 |
1-62734006-G-C | c.2184C>G | p.A728= | Synonymous | 5/10 | - | 1 |
1-62734006-G-T | c.2184C>A | p.A728= | Synonymous | 5/10 | - | 1 |
1-62734004-TG-T | c.2185del | p.Q729Rfs*30 | Frameshift | 5/10 | - | 1 |
1-62734018-G-A | c.2172C>T | p.T724= | Synonymous | 5/10 | - | 1 |
1-62734018-G-C | c.2172C>G | p.T724= | Synonymous | 5/10 | - | 1 |
1-62734018-G-T | c.2172C>A | p.T724= | Synonymous | 5/10 | - | 1 |
1-62734020-T-G | c.2170A>C | p.T724P | Missense | 5/10 | - | 1 |
1-62734022-C-T | c.2168G>A | p.G723D | Missense | 5/10 | - | 1 |
1-62734023-C-T | c.2167G>A | p.G723S | Missense | 5/10 | - | 1 |
1-62734024-C-T | c.2166G>A | p.E722= | Synonymous | 5/10 | - | 2 |
1-62734019-GTGCCCTCAGGGA-G | c.2159_2170del | p.I720_G723del | InFrameDeletion | 5/10 | - | 1 |
1-62734026-C-G | c.2164G>C | p.E722Q | Missense | 5/10 | - | 1 |
1-62734026-C-T | c.2164G>A | p.E722K | Missense | 5/10 | - | 1 |
1-62734030-G-A | c.2160C>T | p.I720= | Synonymous | 5/10 | - | 1 |
1-62734030-G-T | c.2160C>A | p.I720= | Synonymous | 5/10 | - | 1 |
1-62734032-T-C | c.2158A>G | p.I720V | Missense | 5/10 | - | 2 |
1-62734033-G-T | c.2157C>A | p.G719= | Synonymous | 5/10 | - | 1 |
1-62734038-G-A | c.2152C>T | p.Q718* | Nonsense | 5/10 | - | 2 |
1-62734044-C-T | c.2146G>A | p.A716T | Missense | 5/10 | - | 1 |
1-62734047-C-T | c.2143G>A | p.E715K | Missense | 5/10 | - | 3 |
1-62734048-G-A | c.2142C>T | p.C714= | Synonymous | 5/10 | - | 4 |
1-62734049-C-A | c.2141G>T | p.C714F | Missense | 5/10 | - | 1 |
1-62734052-G-A | c.2138C>T | p.T713I | Missense | 5/10 | - | 1 |
1-62734053-T-G | c.2137A>C | p.T713P | Missense | 5/10 | - | 2 |
1-62734054-G-A | c.2136C>T | p.L712= | Synonymous | 5/10 | - | 1 |
1-62734055-A-G | c.2135T>C | p.L712P | Missense | 5/10 | - | 2 |
1-62734068-T-A | c.2122A>T | p.K708* | Nonsense | 5/10 | - | 3 |
1-62734071-C-T | c.2119G>A | p.V707I | Missense | 5/10 | - | 2 |
1-62734080-G-C | c.2110C>G | p.H704D | Missense | 5/10 | - | 1 |
1-62734087-G-A | c.2103C>T | p.G701= | Synonymous | 5/10 | - | 1 |
1-62734087-G-C | c.2103C>G | p.G701= | Synonymous | 5/10 | - | 1 |
1-62734087-G-T | c.2103C>A | p.G701= | Synonymous | 5/10 | - | 1 |
1-62734089-C-T | c.2101G>A | p.G701S | Missense | 5/10 | - | 14 |
1-62734090-G-A | c.2100C>T | p.D700= | Synonymous | 5/10 | - | 1 |
1-62734091-T-C | c.2099A>G | p.D700G | Missense | 5/10 | - | 6 |
1-62734094-C-T | c.2096G>A | p.C699Y | Missense | 5/10 | - | 2 |
1-62734096-C-A | c.2094G>T | p.K698N | Missense | 5/10 | - | 1 |
1-62734096-C-G | c.2094G>C | p.K698N | Missense | 5/10 | - | 1 |
1-62734099-C-A | c.2091G>T | p.K697N | Missense | 5/10 | - | 3 |
1-62734099-C-G | c.2091G>C | p.K697N | Missense | 5/10 | - | 2 |
1-62734102-C-G | c.2088G>C | p.E696D | Missense | 5/10 | - | 1 |
1-62734102-C-T | c.2088G>A | p.E696= | Synonymous | 5/10 | - | 3 |
1-62734103-T-A | c.2087A>T | p.E696V | Missense | 5/10 | - | 4 |
1-62734104-C-T | c.2086G>A | p.E696K | Missense | 5/10 | - | 1 |
1-62734105-T-A | c.2085A>T | p.A695= | Synonymous | 5/10 | - | 1 |
1-62734107-C-A | c.2083G>T | p.A695S | Missense | 5/10 | - | 1 |
1-62734111-G-A | c.2079C>T | p.S693= | Synonymous | 5/10 | - | 1 |
1-62734112-C-A | c.2078G>T | p.S693I | Missense | 5/10 | - | 1 |
1-62734117-A-C | c.2073T>G | p.S691= | Synonymous | 5/10 | - | 1 |
1-62734117-A-G | c.2073T>C | p.S691= | Synonymous | 5/10 | - | 1 |
1-62734117-A-T | c.2073T>A | p.S691= | Synonymous | 5/10 | - | 1 |
1-62734125-C-G | c.2065G>C | p.D689H | Missense | 5/10 | - | 1 |
1-62734126-C-A | c.2064G>T | p.E688D | Missense | 5/10 | - | 1 |
1-62734126-C-G | c.2064G>C | p.E688D | Missense | 5/10 | - | 1 |
1-62734128-C-G | c.2062G>C | p.E688Q | Missense | 5/10 | - | 1 |
1-62734129-T-A | c.2061A>T | p.P687= | Synonymous | 5/10 | - | 1 |
1-62734129-T-C | c.2061A>G | p.P687= | Synonymous | 5/10 | - | 1 |
1-62734129-T-G | c.2061A>C | p.P687= | Synonymous | 5/10 | - | 1 |
1-62734130-G-T | c.2060C>A | p.P687Q | Missense | 5/10 | - | 1 |
1-62734131-G-A | c.2059C>T | p.P687S | Missense | 5/10 | - | 3 |
1-62734136-C-G | c.2054G>C | p.S685T | Missense | 5/10 | - | 1 |
1-62734138-G-T | c.2052C>A | p.D684E | Missense | 5/10 | - | 1 |
1-62734141-C-T | c.2049G>A | p.E683= | Synonymous | 5/10 | - | 1 |
1-62734146-C-T | c.2044G>A | p.G682S | Missense | 5/10 | - | 3 |
1-62734151-G-C | c.2039C>G | p.T680S | Missense | 5/10 | - | 1 |
1-62734152-T-A | c.2038A>T | p.T680S | Missense | 5/10 | - | 1 |
1-62734155-C-T | c.2035G>A | p.E679K | Missense | 5/10 | - | 1 |
1-62734156-C-T | c.2034G>A | p.E678= | Synonymous | 5/10 | - | 2 |
1-62734158-C-A | c.2032G>T | p.E678* | Nonsense | 5/10 | - | 1 |
1-62734158-C-T | c.2032G>A | p.E678K | Missense | 5/10 | - | 6 |
1-62734159-A-G | c.2031T>C | p.S677= | Synonymous | 5/10 | - | 1 |
1-62734173-C-T | c.2017G>A | p.E673K | Missense | 5/10 | - | 1 |
1-62735618-A-G | c.2013-1441T>C | - | IntronicSNV | - | 4/9 | 1 |
1-62737125-T-C | c.2012+25A>G | - | IntronicSNV | - | 4/9 | 2 |
1-62737154-C-A | c.2008G>T | p.G670C | Missense | 4/10 | - | 1 |
1-62737154-C-T | c.2008G>A | p.G670S | Missense | 4/10 | - | 3 |
1-62737155-G-A | c.2007C>T | p.N669= | Synonymous | 4/10 | - | 3 |
1-62737156-T-C | c.2006A>G | p.N669S | Missense | 4/10 | - | 1 |
1-62737157-T-A | c.2005A>T | p.N669Y | Missense | 4/10 | - | 1 |
1-62737166-C-A | c.1996G>T | p.V666F | Missense | 4/10 | - | 1 |
1-62737170-C-T | c.1992G>A | p.Q664= | Synonymous | 4/10 | - | 2 |
1-62737179-C-A | c.1983G>T | p.K661N | Missense | 4/10 | - | 1 |
1-62737179-C-G | c.1983G>C | p.K661N | Missense | 4/10 | - | 1 |
1-62737180-T-C | c.1982A>G | p.K661R | Missense | 4/10 | - | 1 |
1-62737180-T-G | c.1982A>C | p.K661T | Missense | 4/10 | - | 1 |
1-62737188-C-T | c.1974G>A | p.G658= | Synonymous | 4/10 | - | 2 |
1-62737190-C-A | c.1972G>T | p.G658W | Missense | 4/10 | - | 1 |
1-62737204-C-A | c.1958G>T | p.R653L | Missense | 4/10 | - | 2 |
1-62737204-C-T | c.1958G>A | p.R653H | Missense | 4/10 | - | 1 |
1-62737205-G-A | c.1957C>T | p.R653C | Missense | 4/10 | - | 5 |
1-62737205-G-T | c.1957C>A | p.R653S | Missense | 4/10 | - | 1 |
1-62737206-G-T | c.1956C>A | p.F652L | Missense | 4/10 | - | 1 |
1-62737210-C-A | c.1952G>T | p.G651V | Missense | 4/10 | - | 3 |
1-62737210-C-T | c.1952G>A | p.G651D | Missense | 4/10 | - | 1 |
1-62737228-A-C | c.1934T>G | p.M645R | Missense | 4/10 | - | 1 |
1-62737233-G-A | c.1929C>T | p.S643= | Synonymous | 4/10 | - | 1 |
1-62737234-G-A | c.1928C>T | p.S643F | Missense | 4/10 | - | 2 |
1-62737248-C-A | c.1914G>T | p.S638= | Synonymous | 4/10 | - | 3 |
1-62737248-C-G | c.1914G>C | p.S638= | Synonymous | 4/10 | - | 1 |
1-62737248-C-T | c.1914G>A | p.S638= | Synonymous | 4/10 | - | 1 |
1-62737252-G-T | c.1910C>A | p.P637Q | Missense | 4/10 | - | 1 |
1-62737253-G-A | c.1909C>T | p.P637S | Missense | 4/10 | - | 4 |
1-62737255-G-A | c.1907C>T | p.S636F | Missense | 4/10 | - | 2 |
1-62737372-A-C | c.1901-111T>G | - | IntronicSNV | - | 3/9 | 5 |
1-62737372-A-T | c.1901-111T>A | - | IntronicSNV | - | 3/9 | 5 |
1-62738465-C-T | c.1900+411G>A | - | IntronicSNV | - | 3/9 | 2 |
1-62738658-T-C | c.1900+218A>G | - | IntronicSNV | - | 3/9 | 1 |
1-62738716-G-A | c.1900+160C>T | - | IntronicSNV | - | 3/9 | 1 |
1-62738828-AAGG-A | c.1900+45_1900+47del | - | IntronicDeletion | - | 3/9 | 1 |
1-62738879-C-T | c.1897G>A | p.V633M | Missense | 3/10 | - | 9 |
1-62738883-C-T | c.1893G>A | p.P631= | Synonymous | 3/10 | - | 2 |
1-62738884-G-A | c.1892C>T | p.P631L | Missense | 3/10 | - | 3 |
1-62738885-G-T | c.1891C>A | p.P631T | Missense | 3/10 | - | 1 |
1-62738886-G-A | c.1890C>T | p.S630= | Synonymous | 3/10 | - | 2 |
1-62738886-G-C | c.1890C>G | p.S630= | Synonymous | 3/10 | - | 2 |
1-62738886-G-T | c.1890C>A | p.S630= | Synonymous | 3/10 | - | 2 |
1-62738887-G-A | c.1889C>T | p.S630F | Missense | 3/10 | - | 2 |
1-62738887-G-C | c.1889C>G | p.S630C | Missense | 3/10 | - | 2 |
1-62738893-G-A | c.1883C>T | p.S628F | Missense | 3/10 | - | 4 |
1-62738896-G-A | c.1880C>T | p.S627F | Missense | 3/10 | - | 1 |
1-62738885-GGGA-G | c.1888_1890del | p.S630del | InFrameDeletion | 3/10 | - | 1 |
1-62738898-G-A | c.1878C>T | p.A626= | Synonymous | 3/10 | - | 1 |
1-62738898-G-C | c.1878C>G | p.A626= | Synonymous | 3/10 | - | 1 |
1-62738898-G-T | c.1878C>A | p.A626= | Synonymous | 3/10 | - | 1 |
1-62738902-G-A | c.1874C>T | p.P625L | Missense | 3/10 | - | 2 |
1-62738903-G-A | c.1873C>T | p.P625S | Missense | 3/10 | - | 1 |
1-62738903-G-T | c.1873C>A | p.P625T | Missense | 3/10 | - | 1 |
1-62738904-T-A | c.1872A>T | p.P624= | Synonymous | 3/10 | - | 13 |
1-62738904-T-C | c.1872A>G | p.P624= | Synonymous | 3/10 | - | 17 |
1-62738905-G-A | c.1871C>T | p.P624L | Missense | 3/10 | - | 1 |
1-62738907-C-T | c.1869G>A | p.E623= | Synonymous | 3/10 | - | 1 |
1-62738909-C-T | c.1867G>A | p.E623K | Missense | 3/10 | - | 3 |
1-62738910-C-T | c.1866G>A | p.K622= | Synonymous | 3/10 | - | 1 |
1-62738917-G-A | c.1859C>T | p.P620L | Missense | 3/10 | - | 1 |
1-62738919-G-A | c.1857C>T | p.H619= | Synonymous | 3/10 | - | 1 |
1-62738921-G-A | c.1855C>T | p.H619Y | Missense | 3/10 | - | 2 |
1-62738923-G-A | c.1853C>T | p.A618V | Missense | 3/10 | - | 1 |
1-62738929-G-A | c.1847C>T | p.A616V | Missense | 3/10 | - | 2 |
1-62738935-T-A | c.1841A>T | p.Y614F | Missense | 3/10 | - | 4 |
1-62738936-A-G | c.1840T>C | p.Y614H | Missense | 3/10 | - | 1 |
1-62738939-C-T | c.1837G>A | p.A613T | Missense | 3/10 | - | 1 |
1-62738943-C-A | c.1833G>T | p.L611= | Synonymous | 3/10 | - | 1 |
1-62738943-C-G | c.1833G>C | p.L611= | Synonymous | 3/10 | - | 1 |
1-62738943-C-T | c.1833G>A | p.L611= | Synonymous | 3/10 | - | 1 |
1-62738945-G-A | c.1831C>T | p.L611= | Synonymous | 3/10 | - | 1 |
1-62738952-G-A | c.1824C>T | p.N608= | Synonymous | 3/10 | - | 1 |
1-62738953-T-C | c.1823A>G | p.N608S | Missense | 3/10 | - | 1 |
1-62738955-G-A | c.1821C>T | p.L607= | Synonymous | 3/10 | - | 1 |
1-62738955-G-C | c.1821C>G | p.L607= | Synonymous | 3/10 | - | 1 |
1-62738955-G-T | c.1821C>A | p.L607= | Synonymous | 3/10 | - | 1 |
1-62738958-G-A | c.1818C>T | p.S606= | Synonymous | 3/10 | - | 3 |
1-62738960-A-T | c.1816T>A | p.S606T | Missense | 3/10 | - | 1 |
1-62738961-G-A | c.1815C>T | p.S605= | Synonymous | 3/10 | - | 5 |
1-62738961-G-C | c.1815C>G | p.S605R | Missense | 3/10 | - | 1 |
1-62738964-C-A | c.1812G>T | p.L604= | Synonymous | 3/10 | - | 1 |
1-62738964-C-G | c.1812G>C | p.L604= | Synonymous | 3/10 | - | 1 |
1-62738964-C-T | c.1812G>A | p.L604= | Synonymous | 3/10 | - | 2 |
1-62738966-G-A | c.1810C>T | p.L604= | Synonymous | 3/10 | - | 1 |
1-62738966-G-C | c.1810C>G | p.L604V | Missense | 3/10 | - | 2 |
1-62738971-CTGGCTCTGG-C | c.1797_1805del | p.I599_Q602delinsM | MultiAAMissense | 3/10 | - | 1 |
1-62738972-G-A | c.1804C>T | p.Q602* | Nonsense | 3/10 | - | 1 |
1-62738973-G-A | c.1803C>T | p.S601= | Synonymous | 3/10 | - | 1 |
1-62738979-G-A | c.1797C>T | p.I599= | Synonymous | 3/10 | - | 1 |
1-62738979-G-T | c.1797C>A | p.I599= | Synonymous | 3/10 | - | 1 |
1-62738981-T-TCCAGAGCCA | c.1794_1795insTGGCTCTGG | p.S598_I599insWLW | InFrameInsertion | 3/10 | - | 1 |
1-62738983-C-A | c.1793G>T | p.S598I | Missense | 3/10 | - | 2 |
1-62738993-T-C | c.1783A>G | p.K595E | Missense | 3/10 | - | 4 |
1-62738994-G-A | c.1782C>T | p.S594= | Synonymous | 3/10 | - | 1 |
1-62738994-G-C | c.1782C>G | p.S594= | Synonymous | 3/10 | - | 1 |
1-62738994-G-T | c.1782C>A | p.S594= | Synonymous | 3/10 | - | 1 |
1-62738999-C-A | c.1777G>T | p.A593S | Missense | 3/10 | - | 1 |
1-62738999-C-T | c.1777G>A | p.A593T | Missense | 3/10 | - | 1 |
1-62739003-C-T | c.1773G>A | p.Q591= | Synonymous | 3/10 | - | 1 |
1-62739005-G-T | c.1771C>A | p.Q591K | Missense | 3/10 | - | 1 |
1-62739014-C-G | c.1762G>C | p.A588P | Missense | 3/10 | - | 1 |
1-62739023-G-T | c.1753C>A | p.L585M | Missense | 3/10 | - | 1 |
1-62739026-C-T | c.1750G>A | p.E584K | Missense | 3/10 | - | 1 |
1-62739027-C-A | c.1749G>T | p.P583= | Synonymous | 3/10 | - | 1 |
1-62739027-C-G | c.1749G>C | p.P583= | Synonymous | 3/10 | - | 1 |
1-62739027-C-T | c.1749G>A | p.P583= | Synonymous | 3/10 | - | 3 |
1-62739028-G-T | c.1748C>A | p.P583Q | Missense | 3/10 | - | 1 |
1-62739030-G-C | c.1746C>G | p.Y582* | Nonsense | 3/10 | - | 1 |
1-62739030-G-T | c.1746C>A | p.Y582* | Nonsense | 3/10 | - | 1 |
1-62739035-C-A | c.1741G>T | p.G581W | Missense | 3/10 | - | 1 |
1-62739039-C-T | c.1737G>A | p.E579= | Synonymous | 3/10 | - | 1 |
1-62739041-C-T | c.1735G>A | p.E579K | Missense | 3/10 | - | 1 |
1-62739042-C-A | c.1734G>T | p.L578= | Synonymous | 3/10 | - | 1 |
1-62739042-C-G | c.1734G>C | p.L578= | Synonymous | 3/10 | - | 1 |
1-62739042-C-T | c.1734G>A | p.L578= | Synonymous | 3/10 | - | 2 |
1-62739044-G-A | c.1732C>T | p.L578= | Synonymous | 3/10 | - | 1 |
1-62739044-G-T | c.1732C>A | p.L578M | Missense | 3/10 | - | 2 |
1-62739045-G-T | c.1731C>A | p.C577* | Nonsense | 3/10 | - | 2 |
1-62739050-T-A | c.1726A>T | p.N576Y | Missense | 3/10 | - | 1 |
1-62739051-C-T | c.1725G>A | p.W575* | Nonsense | 3/10 | - | 1 |
1-62739052-C-T | c.1724G>A | p.W575* | Nonsense | 3/10 | - | 2 |
1-62739058-T-A | c.1718A>T | p.E573V | Missense | 3/10 | - | 1 |
1-62739062-G-A | c.1714C>T | p.Q572* | Nonsense | 3/10 | - | 1 |
1-62739071-C-CA | c.1704_1705insT | p.E569* | Nonsense | 3/10 | - | 1 |
1-62739074-G-A | c.1702C>T | p.Q568* | Nonsense | 3/10 | - | 1 |
1-62739074-G-T | c.1702C>A | p.Q568K | Missense | 3/10 | - | 1 |
1-62739081-C-T | c.1695G>A | p.K565= | Synonymous | 3/10 | - | 2 |
1-62739084-C-A | c.1692G>T | p.V564= | Synonymous | 3/10 | - | 3 |
1-62739084-C-G | c.1692G>C | p.V564= | Synonymous | 3/10 | - | 1 |
1-62739084-C-T | c.1692G>A | p.V564= | Synonymous | 3/10 | - | 1 |
1-62739085-A-C | c.1691T>G | p.V564G | Missense | 3/10 | - | 1 |
1-62739093-C-A | c.1683G>T | p.G561= | Synonymous | 3/10 | - | 1 |
1-62739093-C-G | c.1683G>C | p.G561= | Synonymous | 3/10 | - | 1 |
1-62739093-C-T | c.1683G>A | p.G561= | Synonymous | 3/10 | - | 1 |
1-62739095-C-G | c.1681G>C | p.G561R | Missense | 3/10 | - | 1 |
1-62739095-C-T | c.1681G>A | p.G561R | Missense | 3/10 | - | 1 |
1-62739097-A-G | c.1679T>C | p.I560T | Missense | 3/10 | - | 1 |
1-62739103-G-A | c.1673C>T | p.A558V | Missense | 3/10 | - | 1 |
1-62739107-C-T | c.1669G>A | p.D557N | Missense | 3/10 | - | 1 |
1-62739108-C-A | c.1668G>T | p.T556= | Synonymous | 3/10 | - | 1 |
1-62739108-C-G | c.1668G>C | p.T556= | Synonymous | 3/10 | - | 2 |
1-62739108-C-T | c.1668G>A | p.T556= | Synonymous | 3/10 | - | 3 |
1-62739109-G-A | c.1667C>T | p.T556M | Missense | 3/10 | - | 2 |
1-62739114-C-A | c.1662G>T | p.S554= | Synonymous | 3/10 | - | 3 |
1-62739114-C-G | c.1662G>C | p.S554= | Synonymous | 3/10 | - | 1 |
1-62739114-C-T | c.1662G>A | p.S554= | Synonymous | 3/10 | - | 1 |
1-62739115-G-A | c.1661C>T | p.S554L | Missense | 3/10 | - | 6 |
1-62739127-C-T | c.1649G>A | p.R550K | Missense | 3/10 | - | 2 |
1-62739130-C-T | c.1646G>A | p.G549E | Missense | 3/10 | - | 4 |
1-62739131-C-T | c.1645G>A | p.G549R | Missense | 3/10 | - | 1 |
1-62739129-TC-T | c.1646del | p.G549Efs*16 | Frameshift | 3/10 | - | 1 |
1-62739132-C-T | c.1644G>A | p.P548= | Synonymous | 3/10 | - | 1 |
1-62739141-C-T | c.1635G>A | p.K545= | Synonymous | 3/10 | - | 1 |
1-62739144-C-T | c.1632G>A | p.G544= | Synonymous | 3/10 | - | 5 |
1-62739148-G-C | c.1628C>G | p.P543R | Missense | 3/10 | - | 1 |
1-62739148-G-T | c.1628C>A | p.P543Q | Missense | 3/10 | - | 1 |
1-62739149-G-A | c.1627C>T | p.P543S | Missense | 3/10 | - | 1 |
1-62739149-G-T | c.1627C>A | p.P543T | Missense | 3/10 | - | 1 |
1-62739150-G-A | c.1626C>T | p.L542= | Synonymous | 3/10 | - | 2 |
1-62739152-G-A | c.1624C>T | p.L542F | Missense | 3/10 | - | 4 |
1-62739160-C-G | c.1616G>C | p.S539T | Missense | 3/10 | - | 1 |
1-62739162-G-T | c.1614C>A | p.T538= | Synonymous | 3/10 | - | 2 |
1-62739166-T-G | c.1610A>C | p.E537A | Missense | 3/10 | - | 1 |
1-62739170-C-T | c.1606G>A | p.E536K | Missense | 3/10 | - | 1 |
1-62739173-T-A | c.1603A>T | p.R535W | Missense | 3/10 | - | 1 |
1-62739175-C-T | c.1601G>A | p.G534E | Missense | 3/10 | - | 3 |
1-62739176-C-T | c.1600G>A | p.G534R | Missense | 3/10 | - | 4 |
1-62739178-G-C | c.1598C>G | p.A533G | Missense | 3/10 | - | 1 |
1-62739179-C-T | c.1597G>A | p.A533T | Missense | 3/10 | - | 1 |
1-62739182-G-T | c.1594C>A | p.P532T | Missense | 3/10 | - | 1 |
1-62739185-G-A | c.1591C>T | p.P531S | Missense | 3/10 | - | 1 |
1-62739193-C-A | c.1583G>T | p.R528I | Missense | 3/10 | - | 1 |
1-62739197-C-T | c.1579G>A | p.D527N | Missense | 3/10 | - | 3 |
1-62739198-G-A | c.1578C>T | p.S526= | Synonymous | 3/10 | - | 9 |
1-62739201-G-T | c.1575C>A | p.G525= | Synonymous | 3/10 | - | 2 |
1-62739203-C-A | c.1573G>T | p.G525C | Missense | 3/10 | - | 3 |
1-62739214-C-T | c.1562G>A | p.G521D | Missense | 3/10 | - | 1 |
1-62739215-C-T | c.1561G>A | p.G521S | Missense | 3/10 | - | 1 |
1-62739213-GCCT-G | c.1560_1562del | p.G521del | InFrameDeletion | 3/10 | - | 1 |
1-62739221-C-T | c.1555G>A | p.A519T | Missense | 3/10 | - | 1 |
1-62739222-T-A | c.1554A>T | p.G518= | Synonymous | 3/10 | - | 1 |
1-62739222-T-C | c.1554A>G | p.G518= | Synonymous | 3/10 | - | 1 |
1-62739222-TC-GT | c.1553_1554delinsAC | p.G518D | Missense | 3/10 | - | 1 |
1-62739222-T-G | c.1554A>C | p.G518= | Synonymous | 3/10 | - | 1 |
1-62739224-C-G | c.1552G>C | p.G518R | Missense | 3/10 | - | 1 |
1-62739224-C-T | c.1552G>A | p.G518R | Missense | 3/10 | - | 1 |
1-62739225-C-T | c.1551G>A | p.R517= | Synonymous | 3/10 | - | 1 |
1-62739226-C-T | c.1550G>A | p.R517K | Missense | 3/10 | - | 3 |
1-62739227-T-TA | c.1548_1549insT | p.R517* | Nonsense | 3/10 | - | 1 |
1-62739228-G-A | c.1548C>T | p.T516= | Synonymous | 3/10 | - | 1 |
1-62739228-G-C | c.1548C>G | p.T516= | Synonymous | 3/10 | - | 1 |
1-62739228-G-T | c.1548C>A | p.T516= | Synonymous | 3/10 | - | 1 |
1-62739229-G-A | c.1547C>T | p.T516I | Missense | 3/10 | - | 1 |
1-62739232-C-T | c.1544G>A | p.G515E | Missense | 3/10 | - | 3 |
1-62739233-C-A | c.1543G>T | p.G515* | Nonsense | 3/10 | - | 1 |
1-62739233-C-T | c.1543G>A | p.G515R | Missense | 3/10 | - | 1 |
1-62739235-C-T | c.1541G>A | p.G514E | Missense | 3/10 | - | 2 |
1-62739236-C-G | c.1540G>C | p.G514R | Missense | 3/10 | - | 1 |
1-62739236-C-T | c.1540G>A | p.G514R | Missense | 3/10 | - | 2 |
1-62739237-C-A | c.1539G>T | p.Q513H | Missense | 3/10 | - | 1 |
1-62739241-G-A | c.1535C>T | p.P512L | Missense | 3/10 | - | 4 |
1-62739244-C-A | c.1532G>T | p.G511V | Missense | 3/10 | - | 1 |
1-62739251-C-T | c.1525G>A | p.E509K | Missense | 3/10 | - | 1 |
1-62739252-C-T | c.1524G>A | p.Q508= | Synonymous | 3/10 | - | 1 |
1-62739257-C-T | c.1519G>A | p.E507K | Missense | 3/10 | - | 1 |
1-62739261-GC-CT | c.1514_1515delinsAG | p.G505E | Missense | 3/10 | - | 1 |
1-62739262-C-T | c.1514G>A | p.G505D | Missense | 3/10 | - | 1 |
1-62739265-G-A | c.1511C>T | p.A504V | Missense | 3/10 | - | 1 |
1-62739269-C-A | c.1507G>T | p.E503* | Nonsense | 3/10 | - | 1 |
1-62739269-C-T | c.1507G>A | p.E503K | Missense | 3/10 | - | 3 |
1-62739281-G-A | c.1495C>T | p.L499F | Missense | 3/10 | - | 1 |
1-62739284-C-T | c.1492G>A | p.E498K | Missense | 3/10 | - | 1 |
1-62739285-A-C | c.1491T>G | p.T497= | Synonymous | 3/10 | - | 1 |
1-62739285-A-G | c.1491T>C | p.T497= | Synonymous | 3/10 | - | 1 |
1-62739285-A-T | c.1491T>A | p.T497= | Synonymous | 3/10 | - | 1 |
1-62739291-G-A | c.1485C>T | p.L495= | Synonymous | 3/10 | - | 3 |
1-62739294-G-A | c.1482C>T | p.F494= | Synonymous | 3/10 | - | 1 |
1-62739302-G-A | c.1474C>T | p.H492Y | Missense | 3/10 | - | 1 |
1-62739303-T-A | c.1473A>T | p.V491= | Synonymous | 3/10 | - | 1 |
1-62739303-T-C | c.1473A>G | p.V491= | Synonymous | 3/10 | - | 1 |
1-62739303-T-G | c.1473A>C | p.V491= | Synonymous | 3/10 | - | 1 |
1-62739307-G-A | c.1469C>T | p.S490F | Missense | 3/10 | - | 6 |
1-62739310-G-A | c.1466C>T | p.S489F | Missense | 3/10 | - | 1 |
1-62739321-C-T | c.1455G>A | p.Q485= | Synonymous | 3/10 | - | 2 |
1-62739326-C-T | c.1450G>A | p.E484K | Missense | 3/10 | - | 6 |
1-62739335-G-C | c.1441C>G | p.Q481E | Missense | 3/10 | - | 1 |
1-62739341-G-C | c.1435C>G | p.L479V | Missense | 3/10 | - | 1 |
1-62739336-TGGCAGTGACAGCTGG-T | c.1425_1439del | p.L477_Q481del | InFrameDeletion | 3/10 | - | 1 |
1-62739348-C-T | c.1428G>A | p.Q476= | Synonymous | 3/10 | - | 1 |
1-62739352-G-A | c.1424C>T | p.P475L | Missense | 3/10 | - | 1 |
1-62739353-G-A | c.1423C>T | p.P475S | Missense | 3/10 | - | 2 |
1-62739355-A-T | c.1421T>A | p.L474Q | Missense | 3/10 | - | 1 |
1-62739356-G-A | c.1420C>T | p.L474= | Synonymous | 3/10 | - | 2 |
1-62739356-G-C | c.1420C>G | p.L474V | Missense | 3/10 | - | 1 |
1-62739359-G-A | c.1417C>T | p.L473F | Missense | 3/10 | - | 1 |
1-62739364-C-T | c.1412G>A | p.R471H | Missense | 3/10 | - | 1 |
1-62739365-G-A | c.1411C>T | p.R471C | Missense | 3/10 | - | 1 |
1-62739366-T-A | c.1410A>T | p.E470D | Missense | 3/10 | - | 1 |
1-62739366-T-G | c.1410A>C | p.E470D | Missense | 3/10 | - | 1 |
1-62739372-TG-AT | c.1403_1404delinsAT | p.P468H | Missense | 3/10 | - | 1 |
1-62739373-G-T | c.1403C>A | p.P468Q | Missense | 3/10 | - | 1 |
1-62739375-G-A | c.1401C>T | p.S467= | Synonymous | 3/10 | - | 1 |
1-62739376-CT-AA | c.1399_1400delinsTT | p.S467F | Missense | 3/10 | - | 1 |
1-62739378-C-A | c.1398G>T | p.Q466H | Missense | 3/10 | - | 1 |
1-62739378-C-G | c.1398G>C | p.Q466H | Missense | 3/10 | - | 1 |
1-62739384-C-A | c.1392G>T | p.G464= | Synonymous | 3/10 | - | 1 |
1-62739384-C-G | c.1392G>C | p.G464= | Synonymous | 3/10 | - | 1 |
1-62739384-C-T | c.1392G>A | p.G464= | Synonymous | 3/10 | - | 5 |
1-62739386-C-T | c.1390G>A | p.G464R | Missense | 3/10 | - | 2 |
1-62739391-T-G | c.1385A>C | p.K462T | Missense | 3/10 | - | 2 |
1-62739392-T-A | c.1384A>T | p.K462* | Nonsense | 3/10 | - | 2 |
1-62739394-T-C | c.1382A>G | p.H461R | Missense | 3/10 | - | 1 |
1-62739395-G-A | c.1381C>T | p.H461Y | Missense | 3/10 | - | 1 |
1-62739396-A-G | c.1380T>C | p.G460= | Synonymous | 3/10 | - | 1 |
1-62739397-C-T | c.1379G>A | p.G460D | Missense | 3/10 | - | 1 |
1-62739400-T-A | c.1376A>T | p.D459V | Missense | 3/10 | - | 1 |
1-62739406-C-T | c.1370G>A | p.G457E | Missense | 3/10 | - | 1 |
1-62739411-T-A | c.1365A>T | p.L455= | Synonymous | 3/10 | - | 1 |
1-62739414-G-A | c.1362C>T | p.L454= | Synonymous | 3/10 | - | 3 |
1-62739425-C-A | c.1351G>T | p.E451* | Nonsense | 3/10 | - | 1 |
1-62739426-C-T | c.1350G>A | p.E450= | Synonymous | 3/10 | - | 1 |
1-62739433-C-T | c.1343G>A | p.R448Q | Missense | 3/10 | - | 1 |
1-62739434-G-A | c.1342C>T | p.R448* | Nonsense | 3/10 | - | 2 |
1-62739441-C-A | c.1335G>T | p.W445C | Missense | 3/10 | - | 1 |
1-62739441-C-G | c.1335G>C | p.W445C | Missense | 3/10 | - | 1 |
1-62739445-C-G | c.1331G>C | p.S444T | Missense | 3/10 | - | 1 |
1-62739451-G-A | c.1325C>T | p.S442F | Missense | 3/10 | - | 2 |
1-62739452-A-C | c.1324T>G | p.S442A | Missense | 3/10 | - | 1 |
1-62739458-T-A | c.1318A>T | p.M440L | Missense | 3/10 | - | 1 |
1-62739458-T-G | c.1318A>C | p.M440L | Missense | 3/10 | - | 1 |
1-62739459-G-A | c.1317C>T | p.S439= | Synonymous | 3/10 | - | 2 |
1-62739459-G-T | c.1317C>A | p.S439R | Missense | 3/10 | - | 1 |
1-62739460-C-T | c.1316G>A | p.S439N | Missense | 3/10 | - | 1 |
1-62739464-C-T | c.1312G>A | p.G438S | Missense | 3/10 | - | 1 |
1-62739467-G-A | c.1309C>T | p.L437= | Synonymous | 3/10 | - | 2 |
1-62739479-C-T | c.1297G>A | p.E433K | Missense | 3/10 | - | 1 |
1-62739485-C-A | c.1291G>T | p.G431C | Missense | 3/10 | - | 1 |
1-62739491-C-T | c.1285G>A | p.D429N | Missense | 3/10 | - | 3 |
1-62739495-C-A | c.1281G>T | p.S427= | Synonymous | 3/10 | - | 1 |
1-62739495-C-T | c.1281G>A | p.S427= | Synonymous | 3/10 | - | 4 |
1-62739496-G-A | c.1280C>T | p.S427L | Missense | 3/10 | - | 1 |
1-62739498-C-T | c.1278G>A | p.E426= | Synonymous | 3/10 | - | 1 |
1-62739500-C-G | c.1276G>C | p.E426Q | Missense | 3/10 | - | 1 |
1-62739501-C-T | c.1275G>A | p.R425= | Synonymous | 3/10 | - | 1 |
1-62739504-G-A | c.1272C>T | p.T424= | Synonymous | 3/10 | - | 1 |
1-62739507-C-T | c.1269G>A | p.L423= | Synonymous | 3/10 | - | 2 |
1-62739510-G-A | c.1266C>T | p.L422= | Synonymous | 3/10 | - | 1 |
1-62739510-G-C | c.1266C>G | p.L422= | Synonymous | 3/10 | - | 1 |
1-62739510-G-T | c.1266C>A | p.L422= | Synonymous | 3/10 | - | 1 |
1-62739514-C-T | c.1262G>A | p.G421E | Missense | 3/10 | - | 1 |
1-62739515-C-A | c.1261G>T | p.G421* | Nonsense | 3/10 | - | 1 |
1-62739515-C-T | c.1261G>A | p.G421R | Missense | 3/10 | - | 2 |
1-62739519-G-A | c.1257C>T | p.V419= | Synonymous | 3/10 | - | 1 |
1-62739519-G-C | c.1257C>G | p.V419= | Synonymous | 3/10 | - | 1 |
1-62739519-G-T | c.1257C>A | p.V419= | Synonymous | 3/10 | - | 2 |
1-62739522-A-C | c.1254T>G | p.P418= | Synonymous | 3/10 | - | 1 |
1-62739522-A-G | c.1254T>C | p.P418= | Synonymous | 3/10 | - | 1 |
1-62739522-A-T | c.1254T>A | p.P418= | Synonymous | 3/10 | - | 1 |
1-62739527-C-A | c.1249G>T | p.D417Y | Missense | 3/10 | - | 4 |
1-62739527-C-G | c.1249G>C | p.D417H | Missense | 3/10 | - | 1 |
1-62739527-C-T | c.1249G>A | p.D417N | Missense | 3/10 | - | 2 |
1-62739529-G-A | c.1247C>T | p.T416I | Missense | 3/10 | - | 1 |
1-62739537-C-T | c.1239G>A | p.M413I | Missense | 3/10 | - | 1 |
1-62739538-A-T | c.1238T>A | p.M413K | Missense | 3/10 | - | 4 |
1-62739539-T-C | c.1237A>G | p.M413V | Missense | 3/10 | - | 1 |
1-62739542-C-T | c.1234G>A | p.V412M | Missense | 3/10 | - | 4 |
1-62739543-G-A | c.1233C>T | p.D411= | Synonymous | 3/10 | - | 4 |
1-62739543-G-C | c.1233C>G | p.D411E | Missense | 3/10 | - | 2 |
1-62739543-G-T | c.1233C>A | p.D411E | Missense | 3/10 | - | 3 |
1-62739545-C-G | c.1231G>C | p.D411H | Missense | 3/10 | - | 1 |
1-62739545-C-T | c.1231G>A | p.D411N | Missense | 3/10 | - | 9 |
1-62739547-G-A | c.1229C>T | p.T410M | Missense | 3/10 | - | 3 |
1-62739549-C-A | c.1227G>T | p.Q409H | Missense | 3/10 | - | 1 |
1-62739549-C-G | c.1227G>C | p.Q409H | Missense | 3/10 | - | 2 |
1-62739551-G-A | c.1225C>T | p.Q409* | Nonsense | 3/10 | - | 1 |
1-62739555-C-T | c.1221G>A | p.Q407= | Synonymous | 3/10 | - | 1 |
1-62739564-T-A | c.1212A>T | p.K404N | Missense | 3/10 | - | 1 |
1-62739564-T-C | c.1212A>G | p.K404= | Synonymous | 3/10 | - | 1 |
1-62739564-T-G | c.1212A>C | p.K404N | Missense | 3/10 | - | 1 |
1-62739568-G-A | c.1208C>T | p.A403V | Missense | 3/10 | - | 1 |
1-62739569-C-T | c.1207G>A | p.A403T | Missense | 3/10 | - | 2 |
1-62739570-G-A | c.1206C>T | p.N402= | Synonymous | 3/10 | - | 4 |
1-62739576-T-C | c.1200A>G | p.Q400= | Synonymous | 3/10 | - | 1 |
1-62739581-G-A | c.1195C>T | p.H399Y | Missense | 3/10 | - | 2 |
1-62739582-A-G | c.1194T>C | p.F398= | Synonymous | 3/10 | - | 1 |
1-62739586-T-A | c.1190A>T | p.Q397L | Missense | 3/10 | - | 3 |
1-62739590-C-G | c.1186G>C | p.G396R | Missense | 3/10 | - | 1 |
1-62739590-C-T | c.1186G>A | p.G396R | Missense | 3/10 | - | 1 |
1-62739594-C-T | c.1182G>A | p.L394= | Synonymous | 3/10 | - | 1 |
1-62739596-G-A | c.1180C>T | p.L394= | Synonymous | 3/10 | - | 1 |
1-62739599-G-T | c.1177C>A | p.Q393K | Missense | 3/10 | - | 1 |
1-62739600-G-A | c.1176C>T | p.A392= | Synonymous | 3/10 | - | 2 |
1-62739609-G-A | c.1167C>T | p.F389= | Synonymous | 3/10 | - | 3 |
1-62739618-GC-G | c.1158del | p.E386Dfs*6 | Frameshift | 3/10 | - | 1 |
1-62739621-T-C | c.1155A>G | p.R385= | Synonymous | 3/10 | - | 1 |
1-62739621-TCG-ACA | c.1153_1155delinsTGT | p.R385C | Missense | 3/10 | - | 2 |
1-62739622-C-A | c.1154G>T | p.R385L | Missense | 3/10 | - | 1 |
1-62739622-C-G | c.1154G>C | p.R385P | Missense | 3/10 | - | 1 |
1-62739622-C-T | c.1154G>A | p.R385Q | Missense | 3/10 | - | 2 |
1-62739623-G-A | c.1153C>T | p.R385* | Nonsense | 3/10 | - | 12 |
1-62739628-C-A | c.1148G>T | p.R383I | Missense | 3/10 | - | 1 |
1-62739628-C-T | c.1148G>A | p.R383K | Missense | 3/10 | - | 1 |
1-62739634-T-C | c.1142A>G | p.E381G | Missense | 3/10 | - | 1 |
1-62739635-C-T | c.1141G>A | p.E381K | Missense | 3/10 | - | 3 |
1-62739637-C-A | c.1139G>T | p.R380M | Missense | 3/10 | - | 1 |
1-62739637-C-T | c.1139G>A | p.R380K | Missense | 3/10 | - | 5 |
1-62739641-C-A | c.1135G>T | p.A379S | Missense | 3/10 | - | 1 |
1-62739644-T-TA | c.1131_1132insT | p.K378* | Nonsense | 3/10 | - | 1 |
1-62739645-G-A | c.1131C>T | p.I377= | Synonymous | 3/10 | - | 2 |
1-62739645-G-T | c.1131C>A | p.I377= | Synonymous | 3/10 | - | 1 |
1-62739646-A-T | c.1130T>A | p.I377N | Missense | 3/10 | - | 1 |
1-62739646-AT-A | c.1129del | p.I377Sfs*15 | Frameshift | 3/10 | - | 1 |
1-62739650-C-T | c.1126G>A | p.E376K | Missense | 3/10 | - | 7 |
1-62739651-C-T | c.1125G>A | p.E375= | Synonymous | 3/10 | - | 1 |
1-62739652-T-A | c.1124A>T | p.E375V | Missense | 3/10 | - | 1 |
1-62739653-C-T | c.1123G>A | p.E375K | Missense | 3/10 | - | 4 |
1-62739657-C-A | c.1119G>T | p.Q373H | Missense | 3/10 | - | 1 |
1-62739657-C-G | c.1119G>C | p.Q373H | Missense | 3/10 | - | 1 |
1-62739668-G-A | c.1108C>T | p.L370F | Missense | 3/10 | - | 1 |
1-62739669-A-C | c.1107T>G | p.A369= | Synonymous | 3/10 | - | 1 |
1-62739669-A-G | c.1107T>C | p.A369= | Synonymous | 3/10 | - | 1 |
1-62739669-A-T | c.1107T>A | p.A369= | Synonymous | 3/10 | - | 1 |
1-62739670-G-A | c.1106C>T | p.A369V | Missense | 3/10 | - | 1 |
1-62739674-T-C | c.1102A>G | p.T368A | Missense | 3/10 | - | 1 |
1-62739678-G-A | c.1098C>T | p.V366= | Synonymous | 3/10 | - | 3 |
1-62739678-G-C | c.1098C>G | p.V366= | Synonymous | 3/10 | - | 2 |
1-62739678-G-T | c.1098C>A | p.V366= | Synonymous | 3/10 | - | 2 |
1-62739679-A-T | c.1097T>A | p.V366D | Missense | 3/10 | - | 1 |
1-62739680-C-T | c.1096G>A | p.V366I | Missense | 3/10 | - | 1 |
1-62739683-G-A | c.1093C>T | p.Q365* | Nonsense | 3/10 | - | 1 |
1-62739693-C-T | c.1083G>A | p.E361= | Synonymous | 3/10 | - | 1 |
1-62739694-T-C | c.1082A>G | p.E361G | Missense | 3/10 | - | 1 |
1-62739695-C-A | c.1081G>T | p.E361* | Nonsense | 3/10 | - | 1 |
1-62739695-C-T | c.1081G>A | p.E361K | Missense | 3/10 | - | 3 |
1-62739696-G-A | c.1080C>T | p.T360= | Synonymous | 3/10 | - | 1 |
1-62739696-G-C | c.1080C>G | p.T360= | Synonymous | 3/10 | - | 1 |
1-62739696-G-T | c.1080C>A | p.T360= | Synonymous | 3/10 | - | 1 |
1-62739700-CT-TG | c.1075_1076delinsCA | p.R359Q | Missense | 3/10 | - | 2 |
1-62739702-TCC-GCT | c.1072_1074delinsAGC | p.G358S | Missense | 3/10 | - | 1 |
1-62739708-C-A | c.1068G>T | p.L356F | Missense | 3/10 | - | 3 |
1-62739708-C-G | c.1068G>C | p.L356F | Missense | 3/10 | - | 1 |
1-62739713-C-A | c.1063G>T | p.E355* | Nonsense | 3/10 | - | 1 |
1-62739714-T-A | c.1062A>T | p.G354= | Synonymous | 3/10 | - | 1 |
1-62739716-C-G | c.1060G>C | p.G354R | Missense | 3/10 | - | 1 |
1-62739716-C-T | c.1060G>A | p.G354R | Missense | 3/10 | - | 4 |
1-62739719-C-A | c.1057G>T | p.E353* | Nonsense | 3/10 | - | 1 |
1-62739719-C-T | c.1057G>A | p.E353K | Missense | 3/10 | - | 6 |
1-62739720-C-T | c.1056G>A | p.L352= | Synonymous | 3/10 | - | 2 |
1-62739726-C-G | c.1050G>C | p.S350= | Synonymous | 3/10 | - | 2 |
1-62739727-G-A | c.1049C>T | p.S350L | Missense | 3/10 | - | 3 |
1-62739728-A-T | c.1048T>A | p.S350T | Missense | 3/10 | - | 1 |
1-62739743-G-A | c.1033C>T | p.L345= | Synonymous | 3/10 | - | 1 |
1-62739748-GA-AG | c.1027_1028delinsCT | p.S343L | Missense | 3/10 | - | 1 |
1-62739753-G-C | c.1023C>G | p.S341R | Missense | 3/10 | - | 1 |
1-62739753-G-T | c.1023C>A | p.S341R | Missense | 3/10 | - | 1 |
1-62739755-T-G | c.1021A>C | p.S341R | Missense | 3/10 | - | 1 |
1-62739757-C-T | c.1019G>A | p.G340D | Missense | 3/10 | - | 1 |
1-62739760-G-A | c.1016C>T | p.P339L | Missense | 3/10 | - | 1 |
1-62739765-C-T | c.1011G>A | p.V337= | Synonymous | 3/10 | - | 2 |
1-62739768-CCT-ACA | c.1006_1008delinsTGT | p.R336C | Missense | 3/10 | - | 1 |
1-62739768-CCT-ATG | c.1006_1008delinsCAT | p.R336H | Missense | 3/10 | - | 1 |
1-62739768-C-G | c.1008G>C | p.R336S | Missense | 3/10 | - | 1 |
1-62739769-C-A | c.1007G>T | p.R336M | Missense | 3/10 | - | 3 |
1-62739769-CT-TG | c.1006_1007delinsCA | p.R336Q | Missense | 3/10 | - | 1 |
1-62739772-G-A | c.1004C>T | p.A335V | Missense | 3/10 | - | 2 |
1-62739773-C-T | c.1003G>A | p.A335T | Missense | 3/10 | - | 1 |
1-62739776-G-A | c.1000C>T | p.L334F | Missense | 3/10 | - | 3 |
1-62739778-C-A | c.998G>T | p.G333V | Missense | 3/10 | - | 2 |
1-62739784-C-G | c.992G>C | p.S331T | Missense | 3/10 | - | 1 |
1-62739788-C-T | c.988G>A | p.E330K | Missense | 3/10 | - | 5 |
1-62739791-C-A | c.985G>T | p.E329* | Nonsense | 3/10 | - | 1 |
1-62739799-C-T | c.977G>A | p.R326K | Missense | 3/10 | - | 2 |
1-62739805-C-A | c.971G>T | p.G324V | Missense | 3/10 | - | 4 |
1-62739805-C-T | c.971G>A | p.G324D | Missense | 3/10 | - | 1 |
1-62739809-T-C | c.967A>G | p.I323V | Missense | 3/10 | - | 1 |
1-62739810-G-A | c.966C>T | p.S322= | Synonymous | 3/10 | - | 1 |
1-62739811-C-G | c.965G>C | p.S322T | Missense | 3/10 | - | 1 |
1-62739811-C-T | c.965G>A | p.S322N | Missense | 3/10 | - | 1 |
1-62739820-T-C | c.956A>G | p.D319G | Missense | 3/10 | - | 1 |
1-62739821-C-A | c.955G>T | p.D319Y | Missense | 3/10 | - | 1 |
1-62739821-C-T | c.955G>A | p.D319N | Missense | 3/10 | - | 1 |
1-62739822-C-A | c.954G>T | p.V318= | Synonymous | 3/10 | - | 1 |
1-62739822-C-G | c.954G>C | p.V318= | Synonymous | 3/10 | - | 1 |
1-62739822-C-T | c.954G>A | p.V318= | Synonymous | 3/10 | - | 1 |
1-62739823-A-C | c.953T>G | p.V318G | Missense | 3/10 | - | 1 |
1-62739828-TAC-CAT | c.946_948delinsATG | p.V316M | Missense | 3/10 | - | 1 |
1-62739838-G-A | c.938C>T | p.P313L | Missense | 3/10 | - | 1 |
1-62739844-G-A | c.932C>T | p.P311L | Missense | 3/10 | - | 6 |
1-62739852-G-A | c.924C>T | p.S308= | Synonymous | 3/10 | - | 1 |
1-62739853-C-T | c.923G>A | p.S308N | Missense | 3/10 | - | 5 |
1-62739859-T-A | c.917A>T | p.N306I | Missense | 3/10 | - | 1 |
1-62739865-T-C | c.911A>G | p.E304G | Missense | 3/10 | - | 1 |
1-62739866-C-T | c.910G>A | p.E304K | Missense | 3/10 | - | 7 |
1-62739868-A-G | c.908T>C | p.I303T | Missense | 3/10 | - | 1 |
1-62739869-T-G | c.907A>C | p.I303L | Missense | 3/10 | - | 1 |
1-62739875-C-G | c.901G>C | p.E301Q | Missense | 3/10 | - | 1 |
1-62739875-C-T | c.901G>A | p.E301K | Missense | 3/10 | - | 1 |
1-62739883-A-G | c.893T>C | p.L298P | Missense | 3/10 | - | 1 |
1-62739884-G-A | c.892C>T | p.L298F | Missense | 3/10 | - | 1 |
1-62739884-G-C | c.892C>G | p.L298V | Missense | 3/10 | - | 1 |
1-62739887-C-A | c.889G>T | p.E297* | Nonsense | 3/10 | - | 1 |
1-62739887-C-T | c.889G>A | p.E297K | Missense | 3/10 | - | 5 |
1-62739892-CT-C | c.884del | p.E295Gfs*22 | Frameshift | 3/10 | - | 1 |
1-62739893-C-G | c.883G>C | p.E295Q | Missense | 3/10 | - | 1 |
1-62739897-G-A | c.879C>T | p.I293= | Synonymous | 3/10 | - | 1 |
1-62739901-G-C | c.875C>G | p.P292R | Missense | 3/10 | - | 1 |
1-62739902-G-A | c.874C>T | p.P292S | Missense | 3/10 | - | 1 |
1-62739906-T-A | c.870A>T | p.P290= | Synonymous | 3/10 | - | 1 |
1-62739906-T-C | c.870A>G | p.P290= | Synonymous | 3/10 | - | 1 |
1-62739906-T-G | c.870A>C | p.P290= | Synonymous | 3/10 | - | 1 |
1-62739907-G-A | c.869C>T | p.P290L | Missense | 3/10 | - | 1 |
1-62739907-G-T | c.869C>A | p.P290Q | Missense | 3/10 | - | 1 |
1-62739908-G-A | c.868C>T | p.P290S | Missense | 3/10 | - | 1 |
1-62739919-G-A | c.857C>T | p.P286L | Missense | 3/10 | - | 6 |
1-62739926-G-A | c.850C>T | p.P284S | Missense | 3/10 | - | 1 |
1-62739927-C-A | c.849G>T | p.T283= | Synonymous | 3/10 | - | 2 |
1-62739927-C-G | c.849G>C | p.T283= | Synonymous | 3/10 | - | 2 |
1-62739927-C-T | c.849G>A | p.T283= | Synonymous | 3/10 | - | 2 |
1-62739928-G-A | c.848C>T | p.T283M | Missense | 3/10 | - | 1 |
1-62739930-A-G | c.846T>C | p.P282= | Synonymous | 3/10 | - | 1 |
1-62739931-G-A | c.845C>T | p.P282L | Missense | 3/10 | - | 2 |
1-62739932-G-T | c.844C>A | p.P282T | Missense | 3/10 | - | 1 |
1-62739934-G-A | c.842C>T | p.S281F | Missense | 3/10 | - | 2 |
1-62739939-A-C | c.837T>G | p.P279= | Synonymous | 3/10 | - | 1 |
1-62739939-A-G | c.837T>C | p.P279= | Synonymous | 3/10 | - | 2 |
1-62739939-A-T | c.837T>A | p.P279= | Synonymous | 3/10 | - | 1 |
1-62739945-G-A | c.831C>T | p.F277= | Synonymous | 3/10 | - | 3 |
1-62739951-C-A | c.825G>T | p.V275= | Synonymous | 3/10 | - | 2 |
1-62739951-C-G | c.825G>C | p.V275= | Synonymous | 3/10 | - | 1 |
1-62739951-C-T | c.825G>A | p.V275= | Synonymous | 3/10 | - | 1 |
1-62739952-A-G | c.824T>C | p.V275A | Missense | 3/10 | - | 1 |
1-62739953-C-T | c.823G>A | p.V275M | Missense | 3/10 | - | 1 |
1-62739956-C-G | c.820G>C | p.E274Q | Missense | 3/10 | - | 1 |
1-62739956-C-T | c.820G>A | p.E274K | Missense | 3/10 | - | 1 |
1-62739959-C-A | c.817G>T | p.A273S | Missense | 3/10 | - | 1 |
1-62739967-G-A | c.809C>T | p.A270V | Missense | 3/10 | - | 1 |
1-62739968-C-T | c.808G>A | p.A270T | Missense | 3/10 | - | 1 |
1-62739969-A-G | c.807T>C | p.N269= | Synonymous | 3/10 | - | 1 |
1-62739981-T-G | c.795A>C | p.E265D | Missense | 3/10 | - | 1 |
1-62739983-C-T | c.793G>A | p.E265K | Missense | 3/10 | - | 4 |
1-62739985-T-C | c.791A>G | p.K264R | Missense | 3/10 | - | 1 |
1-62739986-T-A | c.790A>T | p.K264* | Nonsense | 3/10 | - | 1 |
1-62739992-C-A | c.784G>T | p.E262* | Nonsense | 3/10 | - | 1 |
1-62739993-T-A | c.783A>T | p.L261= | Synonymous | 3/10 | - | 1 |
1-62739993-T-C | c.783A>G | p.L261= | Synonymous | 3/10 | - | 1 |
1-62739993-T-G | c.783A>C | p.L261= | Synonymous | 3/10 | - | 1 |
1-62739995-G-A | c.781C>T | p.L261= | Synonymous | 3/10 | - | 1 |
1-62739998-C-T | c.778G>A | p.V260I | Missense | 3/10 | - | 1 |
1-62740004-G-T | c.772C>A | p.L258I | Missense | 3/10 | - | 1 |
1-62740007-C-A | c.769G>T | p.V257L | Missense | 3/10 | - | 1 |
1-62740007-C-G | c.769G>C | p.V257L | Missense | 3/10 | - | 1 |
1-62740011-C-A | c.765G>T | p.Q255H | Missense | 3/10 | - | 1 |
1-62740011-C-G | c.765G>C | p.Q255H | Missense | 3/10 | - | 1 |
1-62740011-C-T | c.765G>A | p.Q255= | Synonymous | 3/10 | - | 1 |
1-62740015-A-C | c.761T>G | p.F254C | Missense | 3/10 | - | 1 |
1-62740014-G-C | c.762C>G | p.F254L | Missense | 3/10 | - | 1 |
1-62740014-G-T | c.762C>A | p.F254L | Missense | 3/10 | - | 1 |
1-62740016-A-G | c.760T>C | p.F254L | Missense | 3/10 | - | 1 |
1-62740017-T-A | c.759A>T | p.S253= | Synonymous | 3/10 | - | 2 |
1-62740017-T-C | c.759A>G | p.S253= | Synonymous | 3/10 | - | 3 |
1-62740017-T-G | c.759A>C | p.S253= | Synonymous | 3/10 | - | 2 |
1-62740018-G-A | c.758C>T | p.S253L | Missense | 3/10 | - | 5 |
1-62740019-A-G | c.757T>C | p.S253P | Missense | 3/10 | - | 4 |
1-62740025-G-A | c.751C>T | p.P251S | Missense | 3/10 | - | 1 |
1-62740026-A-C | c.750T>G | p.P250= | Synonymous | 3/10 | - | 1 |
1-62740033-G-C | c.743C>G | p.P248R | Missense | 3/10 | - | 1 |
1-62740034-G-A | c.742C>T | p.P248S | Missense | 3/10 | - | 1 |
1-62740036-A-G | c.740T>C | p.L247P | Missense | 3/10 | - | 1 |
1-62740040-G-A | c.736C>T | p.P246S | Missense | 3/10 | - | 1 |
1-62740042-A-T | c.734T>A | p.L245H | Missense | 3/10 | - | 1 |
1-62740043-G-A | c.733C>T | p.L245F | Missense | 3/10 | - | 1 |
1-62740044-G-A | c.732C>T | p.H244= | Synonymous | 3/10 | - | 2 |
1-62740045-T-A | c.731A>T | p.H244L | Missense | 3/10 | - | 1 |
1-62740045-T-C | c.731A>G | p.H244R | Missense | 3/10 | - | 2 |
1-62740046-G-A | c.730C>T | p.H244Y | Missense | 3/10 | - | 1 |
1-62740049-T-C | c.727A>G | p.N243D | Missense | 3/10 | - | 1 |
1-62740051-G-T | c.725C>A | p.P242Q | Missense | 3/10 | - | 1 |
1-62740052-G-A | c.724C>T | p.P242S | Missense | 3/10 | - | 1 |
1-62740052-G-T | c.724C>A | p.P242T | Missense | 3/10 | - | 2 |
1-62740055-C-T | c.721G>A | p.V241I | Missense | 3/10 | - | 2 |
1-62740058-T-A | c.718A>T | p.K240* | Nonsense | 3/10 | - | 1 |
1-62740061-C-T | c.715G>A | p.V239M | Missense | 3/10 | - | 1 |
1-62740064-C-T | c.712G>A | p.V238M | Missense | 3/10 | - | 1 |
1-62740065-A-C | c.711T>G | p.G237= | Synonymous | 3/10 | - | 2 |
1-62740065-A-G | c.711T>C | p.G237= | Synonymous | 3/10 | - | 14 |
1-62740065-A-T | c.711T>A | p.G237= | Synonymous | 3/10 | - | 2 |
1-62740069-T-A | c.707A>T | p.E236V | Missense | 3/10 | - | 1 |
1-62740070-C-G | c.706G>C | p.E236Q | Missense | 3/10 | - | 1 |
1-62740070-C-T | c.706G>A | p.E236K | Missense | 3/10 | - | 1 |
1-62740072-G-A | c.704C>T | p.P235L | Missense | 3/10 | - | 4 |
1-62740076-G-A | c.700C>T | p.P234S | Missense | 3/10 | - | 1 |
1-62740078-T-C | c.698A>G | p.E233G | Missense | 3/10 | - | 1 |
1-62740079-C-A | c.697G>T | p.E233* | Nonsense | 3/10 | - | 1 |
1-62740084-C-G | c.692G>C | p.G231A | Missense | 3/10 | - | 1 |
1-62740084-C-T | c.692G>A | p.G231E | Missense | 3/10 | - | 1 |
1-62740088-C-A | c.688G>T | p.E230* | Nonsense | 3/10 | - | 5 |
1-62740089-C-A | c.687G>T | p.Q229H | Missense | 3/10 | - | 2 |
1-62740089-C-G | c.687G>C | p.Q229H | Missense | 3/10 | - | 2 |
1-62740090-T-A | c.686A>T | p.Q229L | Missense | 3/10 | - | 2 |
1-62740092-G-T | c.684C>A | p.V228= | Synonymous | 3/10 | - | 2 |
1-62740093-A-G | c.683T>C | p.V228A | Missense | 3/10 | - | 1 |
1-62740095-C-A | c.681G>T | p.L227= | Synonymous | 3/10 | - | 1 |
1-62740095-C-G | c.681G>C | p.L227= | Synonymous | 3/10 | - | 1 |
1-62740095-C-T | c.681G>A | p.L227= | Synonymous | 3/10 | - | 4 |
1-62740097-G-A | c.679C>T | p.L227= | Synonymous | 3/10 | - | 1 |
1-62740101-T-C | c.675A>G | p.P225= | Synonymous | 3/10 | - | 1 |
1-62740102-G-A | c.674C>T | p.P225L | Missense | 3/10 | - | 1 |
1-62740103-G-A | c.673C>T | p.P225S | Missense | 3/10 | - | 5 |
1-62740103-G-T | c.673C>A | p.P225T | Missense | 3/10 | - | 1 |
1-62740106-AT-A | c.670del | p.I224Ffs*16 | Frameshift | 3/10 | - | 1 |
1-62740108-C-A | c.668G>T | p.R223L | Missense | 3/10 | - | 5 |
1-62740108-C-T | c.668G>A | p.R223Q | Missense | 3/10 | - | 1 |
1-62740107-C-A | c.669G>T | p.R223= | Synonymous | 3/10 | - | 3 |
1-62740107-C-G | c.669G>C | p.R223= | Synonymous | 3/10 | - | 3 |
1-62740107-C-T | c.669G>A | p.R223= | Synonymous | 3/10 | - | 4 |
1-62740109-G-A | c.667C>T | p.R223W | Missense | 3/10 | - | 1 |
1-62740109-G-T | c.667C>A | p.R223= | Synonymous | 3/10 | - | 3 |
1-62740118-C-T | c.658G>A | p.A220T | Missense | 3/10 | - | 1 |
1-62740119-TC-AT | c.656_657delinsAT | p.R219H | Missense | 3/10 | - | 1 |
1-62740120-C-T | c.656G>A | p.R219Q | Missense | 3/10 | - | 5 |
1-62740124-G-T | c.652C>A | p.P218T | Missense | 3/10 | - | 1 |
1-62740126-C-T | c.650G>A | p.S217N | Missense | 3/10 | - | 1 |
1-62740128-G-A | c.648C>T | p.S216= | Synonymous | 3/10 | - | 1 |
1-62740128-G-C | c.648C>G | p.S216= | Synonymous | 3/10 | - | 1 |
1-62740128-G-T | c.648C>A | p.S216= | Synonymous | 3/10 | - | 1 |
1-62740132-C-G | c.644G>C | p.S215T | Missense | 3/10 | - | 1 |
1-62740137-G-C | c.639C>G | p.F213L | Missense | 3/10 | - | 2 |
1-62740137-G-T | c.639C>A | p.F213L | Missense | 3/10 | - | 1 |
1-62740139-A-G | c.637T>C | p.F213L | Missense | 3/10 | - | 1 |
1-62740143-T-A | c.633A>T | p.A211= | Synonymous | 3/10 | - | 2 |
1-62740143-T-C | c.633A>G | p.A211= | Synonymous | 3/10 | - | 2 |
1-62740143-T-G | c.633A>C | p.A211= | Synonymous | 3/10 | - | 2 |
1-62740145-C-T | c.631G>A | p.A211T | Missense | 3/10 | - | 3 |
1-62740146-C-A | c.630G>T | p.L210F | Missense | 3/10 | - | 1 |
1-62740150-C-G | c.626G>C | p.G209A | Missense | 3/10 | - | 1 |
1-62740154-C-T | c.622G>A | p.E208K | Missense | 3/10 | - | 3 |
1-62740157-C-G | c.619G>C | p.A207P | Missense | 3/10 | - | 1 |
1-62740159-G-T | c.617C>A | p.P206H | Missense | 3/10 | - | 2 |
1-62740164-A-C | c.612T>G | p.F204L | Missense | 3/10 | - | 2 |
1-62740164-A-T | c.612T>A | p.F204L | Missense | 3/10 | - | 1 |
1-62740166-A-G | c.610T>C | p.F204L | Missense | 3/10 | - | 1 |
1-62740168-G-T | c.608C>A | p.T203N | Missense | 3/10 | - | 3 |
1-62740169-T-C | c.607A>G | p.T203A | Missense | 3/10 | - | 3 |
1-62740171-C-T | c.605G>A | p.G202D | Missense | 3/10 | - | 1 |
1-62740175-C-T | c.601G>A | p.D201N | Missense | 3/10 | - | 1 |
1-62740177-C-G | c.599G>C | p.C200S | Missense | 3/10 | - | 1 |
1-62740179-G-A | c.597C>T | p.V199= | Synonymous | 3/10 | - | 1 |
1-62740179-G-C | c.597C>G | p.V199= | Synonymous | 3/10 | - | 1 |
1-62740179-G-T | c.597C>A | p.V199= | Synonymous | 3/10 | - | 1 |
1-62740181-C-G | c.595G>C | p.V199L | Missense | 3/10 | - | 1 |
1-62740181-C-T | c.595G>A | p.V199I | Missense | 3/10 | - | 3 |
1-62740185-G-A | c.591C>T | p.G197= | Synonymous | 3/10 | - | 1 |
1-62740185-G-C | c.591C>G | p.G197= | Synonymous | 3/10 | - | 1 |
1-62740185-G-T | c.591C>A | p.G197= | Synonymous | 3/10 | - | 1 |
1-62740190-C-T | c.586G>A | p.E196K | Missense | 3/10 | - | 3 |
1-62740193-C-A | c.583G>T | p.G195C | Missense | 3/10 | - | 4 |
1-62740193-C-T | c.583G>A | p.G195S | Missense | 3/10 | - | 1 |
1-62740196-G-A | c.580C>T | p.Q194* | Nonsense | 3/10 | - | 2 |
1-62740198-A-T | c.578T>A | p.L193H | Missense | 3/10 | - | 1 |
1-62740199-G-A | c.577C>T | p.L193F | Missense | 3/10 | - | 1 |
1-62740202-G-A | c.574C>T | p.P192S | Missense | 3/10 | - | 2 |
1-62740205-G-A | c.571C>T | p.P191S | Missense | 3/10 | - | 3 |
1-62740206-G-A | c.570C>T | p.L190= | Synonymous | 3/10 | - | 1 |
1-62740209-G-A | c.567C>T | p.A189= | Synonymous | 3/10 | - | 2 |
1-62740214-G-A | c.562C>T | p.P188S | Missense | 3/10 | - | 1 |
1-62740217-G-A | c.559C>T | p.P187S | Missense | 3/10 | - | 1 |
1-62740219-G-T | c.557C>A | p.A186D | Missense | 3/10 | - | 4 |
1-62740223-G-C | c.553C>G | p.P185A | Missense | 3/10 | - | 1 |
1-62740225-G-A | c.551C>T | p.P184L | Missense | 3/10 | - | 1 |
1-62740225-G-C | c.551C>G | p.P184R | Missense | 3/10 | - | 1 |
1-62740230-C-A | c.546G>T | p.L182= | Synonymous | 3/10 | - | 1 |
1-62740230-C-G | c.546G>C | p.L182= | Synonymous | 3/10 | - | 1 |
1-62740230-C-T | c.546G>A | p.L182= | Synonymous | 3/10 | - | 1 |
1-62740232-G-A | c.544C>T | p.L182= | Synonymous | 3/10 | - | 1 |
1-62740234-C-T | c.542G>A | p.S181N | Missense | 3/10 | - | 1 |
1-62740241-C-T | c.535G>A | p.G179S | Missense | 3/10 | - | 1 |
1-62740245-C-A | c.531G>T | p.E177D | Missense | 3/10 | - | 3 |
1-62740245-C-G | c.531G>C | p.E177D | Missense | 3/10 | - | 3 |
1-62740245-C-T | c.531G>A | p.E177= | Synonymous | 3/10 | - | 1 |
1-62740247-C-T | c.529G>A | p.E177K | Missense | 3/10 | - | 1 |
1-62740250-C-G | c.526G>C | p.E176Q | Missense | 3/10 | - | 2 |
1-62740250-C-T | c.526G>A | p.E176K | Missense | 3/10 | - | 3 |
1-62740257-C-T | c.519G>A | p.R173= | Synonymous | 3/10 | - | 3 |
1-62740260-G-C | c.516C>G | p.S172R | Missense | 3/10 | - | 2 |
1-62740260-G-T | c.516C>A | p.S172R | Missense | 3/10 | - | 1 |
1-62740262-T-G | c.514A>C | p.S172R | Missense | 3/10 | - | 1 |
1-62740264-T-C | c.512A>G | p.H171R | Missense | 3/10 | - | 8 |
1-62740268-G-A | c.508C>T | p.L170= | Synonymous | 3/10 | - | 1 |
1-62740269-C-A | c.507G>T | p.L169= | Synonymous | 3/10 | - | 1 |
1-62740269-C-G | c.507G>C | p.L169= | Synonymous | 3/10 | - | 1 |
1-62740269-C-T | c.507G>A | p.L169= | Synonymous | 3/10 | - | 1 |
1-62740271-G-A | c.505C>T | p.L169= | Synonymous | 3/10 | - | 1 |
1-62740273-G-A | c.503C>T | p.T168M | Missense | 3/10 | - | 2 |
1-62740277-C-T | c.499G>A | p.A167T | Missense | 3/10 | - | 3 |
1-62740280-G-A | c.496C>T | p.P166S | Missense | 3/10 | - | 1 |
1-62740284-G-A | c.492C>T | p.S164= | Synonymous | 3/10 | - | 1 |
1-62740285-C-A | c.491G>T | p.S164I | Missense | 3/10 | - | 1 |
1-62740285-CT-AG | c.490_491inv | p.S164L | Missense | 3/10 | - | 2 |
1-62740286-T-C | c.490A>G | p.S164G | Missense | 3/10 | - | 2 |
1-62740288-G-A | c.488C>T | p.S163F | Missense | 3/10 | - | 1 |
1-62740289-A-T | c.487T>A | p.S163T | Missense | 3/10 | - | 1 |
1-62740293-T-C | c.483A>G | p.R161= | Synonymous | 3/10 | - | 1 |
1-62740295-T-G | c.481A>C | p.R161= | Synonymous | 3/10 | - | 1 |
1-62740295-T-C | c.481A>G | p.R161G | Missense | 3/10 | - | 1 |
1-62740296-C-A | c.480G>T | p.L160F | Missense | 3/10 | - | 1 |
1-62740296-C-G | c.480G>C | p.L160F | Missense | 3/10 | - | 1 |
1-62740301-G-C | c.475C>G | p.L159V | Missense | 3/10 | - | 4 |
1-62740305-G-A | c.471C>T | p.P157= | Synonymous | 3/10 | - | 1 |
1-62740307-G-A | c.469C>T | p.P157S | Missense | 3/10 | - | 1 |
1-62740309-C-T | c.467G>A | p.R156Q | Missense | 3/10 | - | 5 |
1-62740313-C-G | c.463G>C | p.G155R | Missense | 3/10 | - | 1 |
1-62740313-C-T | c.463G>A | p.G155R | Missense | 3/10 | - | 2 |
1-62740318-C-A | c.458G>T | p.G153V | Missense | 3/10 | - | 1 |
1-62740318-C-T | c.458G>A | p.G153E | Missense | 3/10 | - | 3 |
1-62740321-A-G | c.455T>C | p.F152S | Missense | 3/10 | - | 1 |
1-62740328-G-A | c.448C>T | p.L150F | Missense | 3/10 | - | 1 |
1-62740329-C-A | c.447G>T | p.E149D | Missense | 3/10 | - | 1 |
1-62740329-C-G | c.447G>C | p.E149D | Missense | 3/10 | - | 1 |
1-62740331-C-T | c.445G>A | p.E149K | Missense | 3/10 | - | 5 |
1-62740332-G-A | c.444C>T | p.A148= | Synonymous | 3/10 | - | 3 |
1-62740332-G-C | c.444C>G | p.A148= | Synonymous | 3/10 | - | 2 |
1-62740332-G-T | c.444C>A | p.A148= | Synonymous | 3/10 | - | 2 |
1-62740337-C-G | c.439G>C | p.D147H | Missense | 3/10 | - | 2 |
1-62740337-C-T | c.439G>A | p.D147N | Missense | 3/10 | - | 4 |
1-62740338-C-A | c.438G>T | p.E146D | Missense | 3/10 | - | 1 |
1-62740338-C-G | c.438G>C | p.E146D | Missense | 3/10 | - | 1 |
1-62740339-T-A | c.437A>T | p.E146V | Missense | 3/10 | - | 1 |
1-62740346-C-T | c.430G>A | p.E144K | Missense | 3/10 | - | 2 |
1-62740351-G-A | c.425C>T | p.A142V | Missense | 3/10 | - | 1 |
1-62740356-C-A | c.420G>T | p.L140F | Missense | 3/10 | - | 1 |
1-62740370-C-A | c.406G>T | p.A136S | Missense | 3/10 | - | 1 |
1-62740370-C-T | c.406G>A | p.A136T | Missense | 3/10 | - | 1 |
1-62740372-T-A | c.404A>T | p.E135V | Missense | 3/10 | - | 1 |
1-62740373-C-T | c.403G>A | p.E135K | Missense | 3/10 | - | 2 |
1-62740376-C-A | c.400G>T | p.A134S | Missense | 3/10 | - | 2 |
1-62740377-C-T | c.399G>A | p.L133= | Synonymous | 3/10 | - | 1 |
1-62740379-A-G | c.397T>C | p.L133= | Synonymous | 3/10 | - | 1 |
1-62740382-G-A | c.394C>T | p.L132= | Synonymous | 3/10 | - | 1 |
1-62740386-C-A | c.390G>T | p.K130N | Missense | 3/10 | - | 2 |
1-62740386-C-G | c.390G>C | p.K130N | Missense | 3/10 | - | 2 |
1-62740386-C-T | c.390G>A | p.K130= | Synonymous | 3/10 | - | 1 |
1-62740390-CT-TG | c.385_386delinsCA | p.R129Q | Missense | 3/10 | - | 1 |
1-62740395-G-A | c.381C>T | p.Y127= | Synonymous | 3/10 | - | 2 |
1-62740397-A-G | c.379T>C | p.Y127H | Missense | 3/10 | - | 1 |
1-62740400-T-A | c.376A>T | p.S126C | Missense | 3/10 | - | 1 |
1-62740403-C-T | c.373G>A | p.V125M | Missense | 3/10 | - | 2 |
1-62740406-C-G | c.370G>C | p.E124Q | Missense | 3/10 | - | 2 |
1-62740407-A-G | c.369T>C | p.S123= | Synonymous | 3/10 | - | 1 |
1-62740410-C-A | c.366G>T | p.R122S | Missense | 3/10 | - | 1 |
1-62740410-C-G | c.366G>C | p.R122S | Missense | 3/10 | - | 1 |
1-62740411-C-A | c.365G>T | p.R122M | Missense | 3/10 | - | 1 |
1-62740411-C-T | c.365G>A | p.R122K | Missense | 3/10 | - | 2 |
1-62740414-CTTG-C | c.359_361del | p.T120del | InFrameDeletion | 3/10 | - | 1 |
1-62740418-T-A | c.358A>T | p.T120S | Missense | 3/10 | - | 1 |
1-62740424-C-G | c.352G>C | p.A118P | Missense | 3/10 | - | 1 |
1-62740424-C-T | c.352G>A | p.A118T | Missense | 3/10 | - | 1 |
1-62740429-G-T | c.347C>A | p.P116H | Missense | 3/10 | - | 1 |
1-62740431-G-A | c.345C>T | p.A115= | Synonymous | 3/10 | - | 1 |
1-62740426-TG-T | c.349del | p.Q117Rfs*9 | Frameshift | 3/10 | - | 3 |
1-62740426-T-TG | c.349dup | p.Q117Pfs*8 | Frameshift | 3/10 | - | 1 |
1-62740432-G-A | c.344C>T | p.A115V | Missense | 3/10 | - | 2 |
1-62740432-G-T | c.344C>A | p.A115D | Missense | 3/10 | - | 1 |
1-62740442-G-A | c.334C>T | p.L112F | Missense | 3/10 | - | 4 |
1-62740443-C-G | c.333G>C | p.P111= | Synonymous | 3/10 | - | 1 |
1-62740444-G-A | c.332C>T | p.P111L | Missense | 3/10 | - | 1 |
1-62740445-G-A | c.331C>T | p.P111S | Missense | 3/10 | - | 1 |
1-62740445-G-C | c.331C>G | p.P111A | Missense | 3/10 | - | 3 |
1-62740446-T-A | c.330A>T | p.P110= | Synonymous | 3/10 | - | 2 |
1-62740446-T-C | c.330A>G | p.P110= | Synonymous | 3/10 | - | 18 |
1-62740446-T-G | c.330A>C | p.P110= | Synonymous | 3/10 | - | 2 |
1-62740449-T-A | c.327A>T | p.S109= | Synonymous | 3/10 | - | 2 |
1-62740449-T-C | c.327A>G | p.S109= | Synonymous | 3/10 | - | 19 |
1-62740449-T-G | c.327A>C | p.S109= | Synonymous | 3/10 | - | 2 |
1-62740450-G-A | c.326C>T | p.S109L | Missense | 3/10 | - | 1 |
1-62740455-G-A | c.321C>T | p.N107= | Synonymous | 3/10 | - | 2 |
1-62740458-T-A | c.318A>T | p.Q106H | Missense | 3/10 | - | 1 |
1-62740458-T-G | c.318A>C | p.Q106H | Missense | 3/10 | - | 1 |
1-62740462-T-C | c.314A>G | p.E105G | Missense | 3/10 | - | 1 |
1-62740463-C-T | c.313G>A | p.E105K | Missense | 3/10 | - | 4 |
1-62740467-TG-CA | c.308_309inv | p.T103M | Missense | 3/10 | - | 2 |
1-62740472-C-G | c.304G>C | p.G102R | Missense | 3/10 | - | 1 |
1-62740472-C-T | c.304G>A | p.G102R | Missense | 3/10 | - | 1 |
1-62740474-A-C | c.302T>G | p.L101R | Missense | 3/10 | - | 1 |
1-62740478-A-G | c.298T>C | p.S100P | Missense | 3/10 | - | 3 |
1-62740482-C-CAAGGGAGGCA | c.293_294insTGCCTCCCTT | p.E98Dfs*20 | Frameshift | 3/10 | - | 1 |
1-62740485-C-A | c.291G>T | p.R97S | Missense | 3/10 | - | 1 |
1-62740485-CCT-ACA | c.289_291delinsTGT | p.R97C | Missense | 3/10 | - | 1 |
1-62740488-TGGCACCACGGGA-T | c.276_287del | p.P93_P96del | InFrameDeletion | 3/10 | - | 1 |
1-62740490-G-T | c.286C>A | p.P96T | Missense | 3/10 | - | 4 |
1-62740491-C-A | c.285G>T | p.V95= | Synonymous | 3/10 | - | 1 |
1-62740493-C-T | c.283G>A | p.V95M | Missense | 3/10 | - | 5 |
1-62740499-G-A | c.277C>T | p.P93S | Missense | 3/10 | - | 3 |
1-62740504-C-A | c.272G>T | p.W91L | Missense | 3/10 | - | 1 |
1-62740506-G-A | c.270C>T | p.N90= | Synonymous | 3/10 | - | 3 |
1-62740517-G-A | c.259C>T | p.P87S | Missense | 3/10 | - | 2 |
1-62740521-G-A | c.255C>T | p.A85= | Synonymous | 3/10 | - | 1 |
1-62740524-T-C | c.252A>G | p.A84= | Synonymous | 3/10 | - | 2 |
1-62740524-T-G | c.252A>C | p.A84= | Synonymous | 3/10 | - | 1 |
1-62740529-G-A | c.247C>T | p.P83S | Missense | 3/10 | - | 5 |
1-62740527-A-AG | c.248dup | p.A84Cfs*31 | Frameshift | 3/10 | - | 1 |
1-62740534-C-T | c.242G>A | p.R81H | Missense | 3/10 | - | 3 |
1-62740535-G-A | c.241C>T | p.R81C | Missense | 3/10 | - | 6 |
1-62740537-G-T | c.239C>A | p.A80D | Missense | 3/10 | - | 2 |
1-62740535-GAGCCCCACTGTC-G | c.229_240del | p.D77_A80del | InFrameDeletion | 3/10 | - | 1 |
1-62740542-A-G | c.234T>C | p.S78= | Synonymous | 3/10 | - | 1 |
1-62740547-C-T | c.229G>A | p.D77N | Missense | 3/10 | - | 3 |
1-62740548-A-G | c.228T>C | p.P76= | Synonymous | 3/10 | - | 1 |
1-62740550-G-A | c.226C>T | p.P76S | Missense | 3/10 | - | 3 |
1-62740553-G-A | c.223C>T | p.L75F | Missense | 3/10 | - | 3 |
1-62740554-G-A | c.222C>T | p.S74= | Synonymous | 3/10 | - | 1 |
1-62740559-A-C | c.217T>G | p.F73V | Missense | 3/10 | - | 5 |
1-62740559-A-T | c.217T>A | p.F73I | Missense | 3/10 | - | 1 |
1-62740564-C-T | c.212G>A | p.R71Q | Missense | 3/10 | - | 12 |
1-62740565-G-A | c.211C>T | p.R71* | Nonsense | 3/10 | - | 6 |
1-62740567-G-A | c.209C>T | p.P70L | Missense | 3/10 | - | 2 |
1-62740567-G-C | c.209C>G | p.P70R | Missense | 3/10 | - | 3 |
1-62740568-G-A | c.208C>T | p.P70S | Missense | 3/10 | - | 1 |
1-62740569-C-A | c.207G>T | p.L69= | Synonymous | 3/10 | - | 1 |
1-62740569-C-G | c.207G>C | p.L69= | Synonymous | 3/10 | - | 1 |
1-62740569-C-T | c.207G>A | p.L69= | Synonymous | 3/10 | - | 1 |
1-62740571-G-A | c.205C>T | p.L69= | Synonymous | 3/10 | - | 1 |
1-62740575-G-A | c.201C>T | p.S67= | Synonymous | 3/10 | - | 1 |
1-62740575-G-T | c.201C>A | p.S67R | Missense | 3/10 | - | 1 |
1-62740582-T-G | c.194A>C | p.K65T | Missense | 3/10 | - | 2 |
1-62740586-C-T | c.190G>A | p.A64T | Missense | 3/10 | - | 1 |
1-62740585-GC-G | c.190del | p.A64Pfs*62 | Frameshift | 3/10 | - | 1 |
1-62740587-C-A | c.189G>T | p.Q63H | Missense | 3/10 | - | 2 |
1-62740587-C-G | c.189G>C | p.Q63H | Missense | 3/10 | - | 2 |
1-62740587-C-T | c.189G>A | p.Q63= | Synonymous | 3/10 | - | 1 |
1-62740589-G-A | c.187C>T | p.Q63* | Nonsense | 3/10 | - | 3 |
1-62740594-G-C | c.182C>G | p.A61G | Missense | 3/10 | - | 1 |
1-62740596-C-A | c.180G>T | p.R60S | Missense | 3/10 | - | 1 |
1-62740596-C-G | c.180G>C | p.R60S | Missense | 3/10 | - | 1 |
1-62740596-C-T | c.180G>A | p.R60= | Synonymous | 3/10 | - | 1 |
1-62740598-T-G | c.178A>C | p.R60= | Synonymous | 3/10 | - | 1 |
1-62740597-C-A | c.179G>T | p.R60M | Missense | 3/10 | - | 1 |
1-62740597-CT-TG | c.178_179delinsCA | p.R60Q | Missense | 3/10 | - | 1 |
1-62740599-TCT-ACA | c.175_177delinsTGT | p.R59C | Missense | 3/10 | - | 1 |
1-62740602-G-A | c.174C>T | p.H58= | Synonymous | 3/10 | - | 1 |
1-62740605-G-A | c.171C>T | p.I57= | Synonymous | 3/10 | - | 2 |
1-62740605-G-T | c.171C>A | p.I57= | Synonymous | 3/10 | - | 1 |
1-62740606-A-T | c.170T>A | p.I57N | Missense | 3/10 | - | 1 |
1-62740607-T-C | c.169A>G | p.I57V | Missense | 3/10 | - | 1 |
1-62740609-G-A | c.167C>T | p.P56L | Missense | 3/10 | - | 1 |
1-62740609-GG-AA | c.166_167delinsTT | p.P56F | Missense | 3/10 | - | 1 |
1-62740610-G-A | c.166C>T | p.P56S | Missense | 3/10 | - | 8 |
1-62740610-G-T | c.166C>A | p.P56T | Missense | 3/10 | - | 1 |
1-62740611-A-G | c.165T>C | p.I55= | Synonymous | 3/10 | - | 1 |
1-62740611-A-T | c.165T>A | p.I55= | Synonymous | 3/10 | - | 1 |
1-62740614-TCT-ACA | c.160_162delinsTGT | p.R54C | Missense | 3/10 | - | 1 |
1-62740615-C-T | c.161G>A | p.R54K | Missense | 3/10 | - | 3 |
1-62740617-T-A | c.159A>T | p.K53N | Missense | 3/10 | - | 1 |
1-62740617-T-G | c.159A>C | p.K53N | Missense | 3/10 | - | 1 |
1-62740618-T-C | c.158A>G | p.K53R | Missense | 3/10 | - | 1 |
1-62740620-G-C | c.156C>G | p.I52M | Missense | 3/10 | - | 1 |
1-62740626-G-A | c.150C>T | p.N50= | Synonymous | 3/10 | - | 1 |
1-62740630-C-T | c.146G>A | p.G49E | Missense | 3/10 | - | 3 |
1-62740632-C-A | c.144G>T | p.K48N | Missense | 3/10 | - | 1 |
1-62740632-C-G | c.144G>C | p.K48N | Missense | 3/10 | - | 1 |
1-62740635-C-A | c.141G>T | p.E47D | Missense | 3/10 | - | 1 |
1-62740635-C-G | c.141G>C | p.E47D | Missense | 3/10 | - | 1 |
1-62740635-C-T | c.141G>A | p.E47= | Synonymous | 3/10 | - | 1 |
1-62740638-G-T | c.138C>A | p.I46= | Synonymous | 3/10 | - | 1 |
1-62740642-T-C | c.134A>G | p.D45G | Missense | 3/10 | - | 2 |
1-62740643-C-A | c.133G>T | p.D45Y | Missense | 3/10 | - | 1 |
1-62740647-C-T | c.129G>A | p.V43= | Synonymous | 3/10 | - | 3 |
1-62740649-C-A | c.127G>T | p.V43L | Missense | 3/10 | - | 1 |
1-62740649-C-G | c.127G>C | p.V43L | Missense | 3/10 | - | 1 |
1-62740649-C-T | c.127G>A | p.V43M | Missense | 3/10 | - | 1 |
1-62740658-G-A | c.118C>T | p.L40F | Missense | 3/10 | - | 1 |
1-62740659-G-A | c.117C>T | p.F39= | Synonymous | 3/10 | - | 2 |
1-62740662-G-C | c.114C>G | p.D38E | Missense | 3/10 | - | 1 |
1-62740662-G-T | c.114C>A | p.D38E | Missense | 3/10 | - | 1 |
1-62740666-A-G | c.110T>C | p.L37P | Missense | 3/10 | - | 1 |
1-62740668-G-A | c.108C>T | p.D36= | Synonymous | 3/10 | - | 3 |
1-62740670-C-T | c.106G>A | p.D36N | Missense | 3/10 | - | 1 |
1-62740676-G-A | c.100C>T | p.H34Y | Missense | 3/10 | - | 5 |
1-62740684-T-A | c.92A>T | p.Y31F | Missense | 3/10 | - | 1 |
1-62740687-G-A | c.89C>T | p.P30L | Missense | 3/10 | - | 2 |
1-62740690-G-T | c.86C>A | p.T29N | Missense | 3/10 | - | 1 |
1-62740692-C-A | c.84G>T | p.E28D | Missense | 3/10 | - | 1 |
1-62740692-C-G | c.84G>C | p.E28D | Missense | 3/10 | - | 1 |
1-62740694-C-A | c.82G>T | p.E28* | Nonsense | 3/10 | - | 1 |
1-62740694-C-T | c.82G>A | p.E28K | Missense | 3/10 | - | 1 |
1-62740699-G-A | c.77C>T | p.S26F | Missense | 3/10 | - | 5 |
1-62740705-G-A | c.71C>T | p.P24L | Missense | 3/10 | - | 1 |
1-62740706-G-A | c.70C>T | p.P24S | Missense | 3/10 | - | 1 |
1-62740709-G-A | c.67C>T | p.H23Y | Missense | 3/10 | - | 1 |
1-62740713-C-T | c.63G>A | p.K21= | Synonymous | 3/10 | - | 1 |
1-62740716-C-T | c.60G>A | p.P20= | Synonymous | 3/10 | - | 5 |
1-62740717-G-A | c.59C>T | p.P20L | Missense | 3/10 | - | 2 |
1-62740717-G-T | c.59C>A | p.P20Q | Missense | 3/10 | - | 1 |
1-62740726-T-G | c.50A>C | p.K17T | Missense | 3/10 | - | 1 |
1-62740728-C-A | c.48G>T | p.E16D | Missense | 3/10 | - | 1 |
1-62740728-C-G | c.48G>C | p.E16D | Missense | 3/10 | - | 1 |
1-62740728-C-T | c.48G>A | p.E16= | Synonymous | 3/10 | - | 2 |
1-62740730-C-T | c.46G>A | p.E16K | Missense | 3/10 | - | 4 |
1-62740731-T-C | c.45A>G | p.E15= | Synonymous | 3/10 | - | 1 |
1-62740733-C-T | c.43G>A | p.E15K | Missense | 3/10 | - | 4 |
1-62740736-C-CA | c.39_40insT | p.D14* | Nonsense | 3/10 | - | 1 |
1-62740736-C-T | c.40G>A | p.D14N | Missense | 3/10 | - | 2 |
1-62740737-C-T | c.39G>A | p.G13= | Synonymous | 3/10 | - | 1 |
1-62740738-C-A | c.38G>T | p.G13V | Missense | 3/10 | - | 1 |
1-62740738-C-T | c.38G>A | p.G13E | Missense | 3/10 | - | 4 |
1-62740739-C-G | c.37G>C | p.G13R | Missense | 3/10 | - | 1 |
1-62740739-C-T | c.37G>A | p.G13R | Missense | 3/10 | - | 2 |
1-62740740-C-T | c.36G>A | p.Q12= | Synonymous | 3/10 | - | 2 |
1-62740742-G-A | c.34C>T | p.Q12* | Nonsense | 3/10 | - | 1 |
1-62740744-G-A | c.32C>T | p.S11F | Missense | 3/10 | - | 1 |
1-62740745-A-G | c.31T>C | p.S11P | Missense | 3/10 | - | 1 |
1-62740746-G-A | c.30C>T | p.S10= | Synonymous | 3/10 | - | 2 |
1-62740746-G-C | c.30C>G | p.S10= | Synonymous | 3/10 | - | 2 |
1-62740746-G-T | c.30C>A | p.S10= | Synonymous | 3/10 | - | 2 |
1-62740748-A-C | c.28T>G | p.S10A | Missense | 3/10 | - | 1 |
1-62740752-G-A | c.24C>T | p.D8= | Synonymous | 3/10 | - | 7 |
1-62740930-A-G | c.17-171T>C | - | IntronicSNV | - | 2/9 | 1 |
1-62742148-T-C | c.17-1389A>G | - | IntronicSNV | - | 2/9 | 1 |
1-62742148-T-G | c.17-1389A>C | - | IntronicSNV | - | 2/9 | 1 |
1-62742156-T-C | c.17-1397A>G | - | IntronicSNV | - | 2/9 | 1 |
1-62743278-G-A | c.17-2519C>T | - | IntronicSNV | - | 2/9 | 2 |
1-62743422-G-T | c.17-2663C>A | - | IntronicSNV | - | 2/9 | 1 |
1-62744377-AT-A | c.16+2843del | - | IntronicDeletion | - | 2/9 | 1 |
1-62747095-A-G | c.16+126T>C | - | IntronicSNV | - | 2/9 | 1 |
1-62747221-C-T | c.16G>A | p.A6T | Missense | 2/10 | - | 3 |
1-62747224-C-T | c.13G>A | p.D5N | Missense | 2/10 | - | 3 |
1-62747226-G-A | c.11C>T | p.T4I | Missense | 2/10 | - | 1 |
1-62747227-T-C | c.10A>G | p.T4A | Missense | 2/10 | - | 1 |
1-62747233-C-T | c.4G>A | p.E2K | Missense | 2/10 | - | 1 |
1-62747235-A-G | c.2T>C | p.M1? | Missense | 2/10 | - | 1 |
1-62751076-G-A | c.-70-3770C>T | - | IntronicSNV | - | 1/9 | 1 |
1-62760625-T-C | c.-70-13319A>G | - | IntronicSNV | - | 1/9 | 5 |
1-62767265-C-T | c.-71+17512G>A | - | intron_variant | - | 1/9 | 1 |
1-62782860-T-C | c.-71+1917A>G | - | intron_variant | - | 1/9 | 8 |
1-62784196-C-G | c.-71+581G>C | - | intron_variant | - | 1/9 | 1 |
1-62784196-C-T | c.-71+581G>A | - | intron_variant | - | 1/9 | 1 |