15-48701029-C-T |
c.*2158G>A |
- |
3-UTRSNV |
66/66 |
- |
1 |
15-48701228-C-T |
c.*1959G>A |
- |
3-UTRSNV |
66/66 |
- |
2 |
15-48702873-G-A |
c.*314C>T |
- |
3-UTRSNV |
66/66 |
- |
2 |
15-48703201-C-T |
c.8602G>A |
p.Val2868Ile |
Missense |
66/66 |
- |
1 |
15-48703204-G-A |
c.8599C>T |
p.Gln2867* |
Nonsense |
66/66 |
- |
1 |
15-48703256-A-C |
c.8547T>G |
p.Tyr2849* |
Nonsense |
66/66 |
- |
3 |
15-48703261-T-TT |
c.8544dup |
p.Tyr2849Ilefs*2 |
Frameshift |
66/66 |
- |
1 |
15-48703267-C-A |
c.8536G>T |
p.Glu2846* |
Nonsense |
66/66 |
- |
1 |
15-48703277-TAAGTT-T |
c.8525_8529del |
p.Leu2842Profs*7 |
Frameshift |
66/66 |
- |
1 |
15-48703300-G-GG |
c.8504dup |
p.Leu2836Thrfs*3 |
Frameshift |
66/66 |
- |
1 |
15-48703309-T-C |
c.8494A>G |
p.Ser2832Gly |
Missense |
66/66 |
- |
2 |
15-48703314-T-C |
c.8489A>G |
p.Gln2830Arg |
Missense |
66/66 |
- |
1 |
15-48703448-TGT-TAT |
c.8354delinsT |
p.Thr2785Ile |
Missense |
66/66 |
- |
1 |
15-48703452-A-AA |
c.8352dup |
p.Thr2785Tyrfs*16 |
Frameshift |
66/66 |
- |
1 |
15-48703464-A-G |
c.8339T>C |
p.Leu2780Pro |
Missense |
66/66 |
- |
1 |
15-48703477-G-A |
c.8326C>T |
p.Arg2776* |
Nonsense |
66/66 |
- |
1 |
15-48703495-G-A |
c.8308C>T |
p.His2770Tyr |
Missense |
66/66 |
- |
1 |
15-48703503-T-C |
c.8300A>G |
p.Asn2767Ser |
Missense |
66/66 |
- |
1 |
15-48703513-A-AA |
c.8292dup |
p.Ala2765Cysfs*9 |
Frameshift |
66/66 |
- |
1 |
15-48703514-AGATGGCTGTCTTCTCAA-A |
c.8275_8291del |
p.Glu2759Cysfs*9 |
Frameshift |
66/66 |
- |
1 |
15-48703535-C-T |
c.8268G>A |
p.Trp2756* |
Nonsense |
66/66 |
- |
1 |
15-48703536-C-T |
c.8267G>A |
p.Trp2756* |
Nonsense |
66/66 |
- |
1 |
15-48703551-AC-TA |
c.8251_8252delinsTA |
p.Val2751* |
Nonsense |
66/66 |
- |
1 |
15-48703823-A-G |
c.8227-247T>C |
- |
IntronicSNV |
- |
65/65 |
1 |
15-48704761-C-T |
c.8226+5G>A |
- |
IntronicSNV |
- |
65/65 |
1 |
15-48704765-C-A |
c.8226+1G>T |
- |
IntronicSNV |
- |
65/65 |
2 |
15-48704765-C-T |
c.8226+1G>A |
- |
IntronicSNV |
- |
65/65 |
3 |
15-48704770-A-G |
c.8222T>C |
p.Ile2741Thr |
Missense |
65/66 |
- |
2 |
15-48704779-G-A |
c.8213C>T |
p.Ala2738Val |
Missense |
65/66 |
- |
1 |
15-48704788-T-TT |
c.8206dup |
p.Thr2736Asnfs*2 |
Frameshift |
65/66 |
- |
1 |
15-48704804-G-A |
c.8188C>T |
p.Arg2730Trp |
Missense |
65/66 |
- |
1 |
15-48704811-TGCCCCGTT-T |
c.8175_8182del |
p.Arg2726Glufs*9 |
Frameshift |
65/66 |
- |
2 |
15-48704816-G-A |
c.8176C>T |
p.Arg2726Trp |
Missense |
65/66 |
- |
11 |
15-48704818-TTTGGGGTAGCCATTGATCTT-T |
c.8156_8175del |
p.Lys2719Thrfs*12 |
Frameshift |
65/66 |
- |
2 |
15-48704836-CTT-C |
c.8155_8156del |
p.Lys2719Aspfs*18 |
Frameshift |
65/66 |
- |
2 |
15-48704843-C-T |
c.8149G>A |
p.Glu2717Lys |
Missense |
65/66 |
- |
1 |
15-48704845-T-TT |
c.8147dup |
p.Tyr2716* |
Nonsense |
65/66 |
- |
1 |
15-48704869-T-C |
c.8123A>G |
p.Asn2708Ser |
Missense |
65/66 |
- |
1 |
15-48704871-G-T |
c.8121C>A |
p.Asp2707Glu |
Missense |
65/66 |
- |
1 |
15-48704911-C-T |
c.8081G>A |
p.Arg2694Gln |
Missense |
65/66 |
- |
2 |
15-48704912-G-A |
c.8080C>T |
p.Arg2694* |
Nonsense |
65/66 |
- |
1 |
15-48704923-A-C |
c.8069T>G |
p.Met2690Arg |
Missense |
65/66 |
- |
1 |
15-48704935-C-A |
c.8057G>T |
p.Cys2686Phe |
Missense |
65/66 |
- |
1 |
15-48707742-AT-TA |
c.8041_8042delinsTA |
p.Ile2681* |
Nonsense |
64/66 |
- |
2 |
15-48707746-G-A |
c.8038C>T |
p.Arg2680Cys |
Missense |
64/66 |
- |
1 |
15-48707750-G-T |
c.8034C>A |
p.Tyr2678* |
Nonsense |
64/66 |
- |
1 |
15-48707796-C-T |
c.7988G>A |
p.Cys2663Tyr |
Missense |
64/66 |
- |
1 |
15-48707796-C-G |
c.7988G>C |
p.Cys2663Ser |
Missense |
64/66 |
- |
1 |
15-48707797-A-T |
c.7987T>A |
p.Cys2663Ser |
Missense |
64/66 |
- |
1 |
15-48707807-G-T |
c.7977C>A |
p.Cys2659* |
Nonsense |
64/66 |
- |
1 |
15-48707828-A-T |
c.7956T>A |
p.Cys2652* |
Nonsense |
64/66 |
- |
1 |
15-48707829-C-T |
c.7955G>A |
p.Cys2652Tyr |
Missense |
64/66 |
- |
1 |
15-48707863-G-A |
c.7921C>T |
p.Gln2641* |
Nonsense |
64/66 |
- |
1 |
15-48707868-T-C |
c.7916A>G |
p.Tyr2639Cys |
Missense |
64/66 |
- |
2 |
15-48707913-T-C |
c.7871A>G |
p.Asn2624Ser |
Missense |
64/66 |
- |
1 |
15-48707913-T-G |
c.7871A>C |
p.Asn2624Thr |
Missense |
64/66 |
- |
1 |
15-48707916-T-TT |
c.7868dup |
p.His2623Glnfs*18 |
Frameshift |
64/66 |
- |
1 |
15-48707932-C-T |
c.7852G>A |
p.Gly2618Arg |
Missense |
64/66 |
- |
2 |
15-48707938-T-C |
c.7846A>G |
p.Ile2616Val |
Missense |
64/66 |
- |
1 |
15-48707953-A-G |
c.7831T>C |
p.Cys2611Arg |
Missense |
64/66 |
- |
1 |
15-48707956-C-T |
c.7828G>A |
p.Glu2610Lys |
Missense |
64/66 |
- |
1 |
15-48707964-T-C |
c.7820A>G |
p.Asp2607Gly |
Missense |
64/66 |
- |
1 |
15-48712884-C-T |
c.7819G>A |
p.Asp2607Asn |
Missense |
63/66 |
- |
1 |
15-48712915-G-T |
c.7788C>A |
p.Tyr2596* |
Nonsense |
63/66 |
- |
1 |
15-48712918-AG-A |
c.7785del |
p.Tyr2596Thrfs*86 |
Frameshift |
63/66 |
- |
1 |
15-48712934-C-T |
c.7769G>A |
p.Cys2590Tyr |
Missense |
63/66 |
- |
1 |
15-48712938-T-C |
c.7765A>G |
p.Arg2589Gly |
Missense |
63/66 |
- |
1 |
15-48712949-A-G |
c.7754T>C |
p.Ile2585Thr |
Missense |
63/66 |
- |
8 |
15-48712977-G-A |
c.7726C>T |
p.Arg2576Cys |
Missense |
63/66 |
- |
1 |
15-48712990-A-C |
c.7713T>G |
p.Cys2571Trp |
Missense |
63/66 |
- |
1 |
15-48712991-C-T |
c.7712G>A |
p.Cys2571Tyr |
Missense |
63/66 |
- |
2 |
15-48712992-A-G |
c.7711T>C |
p.Cys2571Arg |
Missense |
63/66 |
- |
2 |
15-48712995-C-T |
c.7708G>A |
p.Glu2570Lys |
Missense |
63/66 |
- |
1 |
15-48713001-C-T |
c.7702G>A |
p.Val2568Met |
Missense |
63/66 |
- |
1 |
15-48713793-C-T |
c.7661G>A |
p.Arg2554Gln |
Missense |
62/66 |
- |
2 |
15-48713794-G-A |
c.7660C>T |
p.Arg2554Trp |
Missense |
62/66 |
- |
4 |
15-48713798-G-T |
c.7656C>A |
p.Cys2552* |
Nonsense |
62/66 |
- |
1 |
15-48713814-GCTTCCAG-G |
c.7636_7642del |
p.Gly2546Serfs*134 |
Frameshift |
62/66 |
- |
1 |
15-48713818-C-T |
c.7636G>A |
p.Gly2546Arg |
Missense |
62/66 |
- |
1 |
15-48713827-T-G |
c.7627A>C |
p.Asn2543His |
Missense |
62/66 |
- |
1 |
15-48713848-C-T |
c.7606G>A |
p.Gly2536Arg |
Missense |
62/66 |
- |
2 |
15-48713849-G-C |
c.7605C>G |
p.Cys2535Trp |
Missense |
62/66 |
- |
1 |
15-48713871-C-A |
c.7583G>T |
p.Cys2528Phe |
Missense |
62/66 |
- |
2 |
15-48713895-A-T |
c.7571-12T>A |
- |
IntronicSNV |
- |
61/65 |
1 |
15-48713996-G-T |
c.7571-113C>A |
- |
IntronicSNV |
- |
61/65 |
2 |
15-48714152-T-G |
c.7567A>C |
p.Ile2523Leu |
Missense |
61/66 |
- |
1 |
15-48714160-G-A |
c.7559C>T |
p.Thr2520Met |
Missense |
61/66 |
- |
2 |
15-48714170-G-A |
c.7549C>T |
p.Gln2517* |
Nonsense |
61/66 |
- |
1 |
15-48714179-C-T |
c.7540G>A |
p.Gly2514Arg |
Missense |
61/66 |
- |
1 |
15-48714216-A-AT |
c.7502_7503insA |
p.Asn2502* |
Nonsense |
61/66 |
- |
2 |
15-48714232-C-A |
c.7487G>T |
p.Cys2496Phe |
Missense |
61/66 |
- |
1 |
15-48714233-A-T |
c.7486T>A |
p.Cys2496Ser |
Missense |
61/66 |
- |
1 |
15-48714242-G-A |
c.7477C>T |
p.Gln2493* |
Nonsense |
61/66 |
- |
1 |
15-48714249-TT-T |
c.7471del |
p.Thr2491Profs*191 |
Frameshift |
61/66 |
- |
1 |
15-48714265-T-A |
c.7454A>T |
p.Asp2485Val |
Missense |
61/66 |
- |
2 |
15-48714838-T-G |
c.7454-573A>C |
- |
IntronicSNV |
- |
60/65 |
1 |
15-48715237-C-G |
c.7454-972G>C |
- |
IntronicSNV |
- |
60/65 |
1 |
15-48717607-G-C |
c.7412C>G |
p.Pro2471Arg |
Missense |
60/66 |
- |
2 |
15-48717609-G-A |
c.7410C>T |
p.Cys2470Cys |
Synonymous |
60/66 |
- |
1 |
15-48717610-C-T |
c.7409G>A |
p.Cys2470Tyr |
Missense |
60/66 |
- |
1 |
15-48717640-T-C |
c.7379A>G |
p.Lys2460Arg |
Missense |
60/66 |
- |
3 |
15-48717677-A-G |
c.7342T>C |
p.Cys2448Arg |
Missense |
60/66 |
- |
1 |
15-48717680-C-T |
c.7339G>A |
p.Glu2447Lys |
Missense |
60/66 |
- |
2 |
15-48717688-T-C |
c.7331A>G |
p.Asp2444Gly |
Missense |
60/66 |
- |
1 |
15-48717990-TGAT-T |
c.7276_7278del |
p.His2426del |
InFrameDeletion |
59/66 |
- |
1 |
15-48718008-T-G |
c.7258A>C |
p.Asn2420His |
Missense |
59/66 |
- |
1 |
15-48718019-C-T |
c.7247G>A |
p.Gly2416Glu |
Missense |
59/66 |
- |
1 |
15-48718025-C-T |
c.7241G>A |
p.Arg2414Gln |
Missense |
59/66 |
- |
2 |
15-48718026-G-A |
c.7240C>T |
p.Arg2414* |
Nonsense |
59/66 |
- |
1 |
15-48718035-C-T |
c.7231G>A |
p.Asp2411Asn |
Missense |
59/66 |
- |
1 |
15-48719758-A-C |
c.7204+6T>G |
- |
IntronicSNV |
- |
58/65 |
1 |
15-48719788-G-A |
c.7180C>T |
p.Arg2394* |
Nonsense |
58/66 |
- |
2 |
15-48719874-C-T |
c.7094G>A |
p.Cys2365Tyr |
Missense |
58/66 |
- |
1 |
15-48719927-ACAT-A |
c.7039_7041del |
p.Met2347del |
InFrameDeletion |
58/66 |
- |
1 |
15-48719928-CAT-C |
c.7039_7040del |
p.Met2347Valfs*19 |
Frameshift |
58/66 |
- |
4 |
15-48719929-T-C |
c.7039A>G |
p.Met2347Val |
Missense |
58/66 |
- |
1 |
15-48719952-CA-GC |
c.7015_7016delinsGC |
p.Cys2339Ala |
Missense |
58/66 |
- |
1 |
15-48719957-CC-GTG |
c.7010_7011delinsCAC |
p.Gly2337Alafs*30 |
Frameshift |
58/66 |
- |
1 |
15-48719965-G-A |
c.7003C>T |
p.Arg2335Trp |
Missense |
58/66 |
- |
1 |
15-48720526-G-A |
c.6997+17C>T |
- |
IntronicSNV |
- |
57/65 |
2 |
15-48720526-G-C |
c.6997+17C>G |
- |
IntronicSNV |
- |
57/65 |
4 |
15-48720526-GG-G |
c.6997+18del |
- |
IntronicDeletion |
- |
57/65 |
1 |
15-48720553-G-C |
c.6987C>G |
p.Asp2329Glu |
Missense |
57/66 |
- |
2 |
15-48720587-C-T |
c.6953G>A |
p.Cys2318Tyr |
Missense |
57/66 |
- |
1 |
15-48720588-A-G |
c.6952T>C |
p.Cys2318Arg |
Missense |
57/66 |
- |
1 |
15-48720598-G-C |
c.6942C>G |
p.Tyr2314* |
Nonsense |
57/66 |
- |
1 |
15-48720598-G-T |
c.6942C>A |
p.Tyr2314* |
Nonsense |
57/66 |
- |
1 |
15-48720621-A-G |
c.6919T>C |
p.Cys2307Arg |
Missense |
57/66 |
- |
1 |
15-48720624-G-A |
c.6916C>T |
p.Arg2306Cys |
Missense |
57/66 |
- |
1 |
15-48720652-C-A |
c.6888G>T |
p.Gln2296His |
Missense |
57/66 |
- |
1 |
15-48720652-C-T |
c.6888G>A |
p.Gln2296Gln |
Synonymous |
57/66 |
- |
1 |
15-48720669-C-T |
c.6872-1G>A |
- |
IntronicSNV |
- |
56/65 |
1 |
15-48720692-A-T |
c.6872-24T>A |
- |
IntronicSNV |
- |
56/65 |
1 |
15-48722872-A-T |
c.6867T>A |
p.Cys2289* |
Nonsense |
56/66 |
- |
1 |
15-48722873-C-A |
c.6866G>T |
p.Cys2289Phe |
Missense |
56/66 |
- |
1 |
15-48722884-A-G |
c.6855T>C |
p.Asp2285Asp |
Synonymous |
56/66 |
- |
2 |
15-48722889-G-T |
c.6850C>A |
p.Pro2284Thr |
Missense |
56/66 |
- |
1 |
15-48722907-G-A |
c.6832C>T |
p.Pro2278Ser |
Missense |
56/66 |
- |
2 |
15-48722914-G-C |
c.6825C>G |
p.Ile2275Met |
Missense |
56/66 |
- |
1 |
15-48722921-A-G |
c.6818T>C |
p.Met2273Thr |
Missense |
56/66 |
- |
1 |
15-48722933-A-G |
c.6806T>C |
p.Ile2269Thr |
Missense |
56/66 |
- |
1 |
15-48722938-G-T |
c.6801C>A |
p.Asn2267Lys |
Missense |
56/66 |
- |
1 |
15-48722946-A-C |
c.6793T>G |
p.Cys2265Gly |
Missense |
56/66 |
- |
1 |
15-48722967-A-G |
c.6772T>C |
p.Cys2258Arg |
Missense |
56/66 |
- |
1 |
15-48722999-T-C |
c.6740A>G |
p.Asp2247Gly |
Missense |
56/66 |
- |
1 |
15-48723000-C-T |
c.6740-1G>A |
- |
IntronicSNV |
- |
55/65 |
1 |
15-48723001-T-C |
c.6740-2A>G |
- |
IntronicSNV |
- |
55/65 |
1 |
15-48724696-T-C |
c.6739+367A>G |
- |
IntronicSNV |
- |
55/65 |
1 |
15-48725062-C-A |
c.6739+1G>T |
- |
IntronicSNV |
- |
55/65 |
1 |
15-48725077-C-T |
c.6725G>A |
p.Arg2242His |
Missense |
55/66 |
- |
1 |
15-48725102-C-T |
c.6700G>A |
p.Val2234Met |
Missense |
55/66 |
- |
2 |
15-48725107-C-T |
c.6695G>A |
p.Cys2232Tyr |
Missense |
55/66 |
- |
1 |
15-48725128-T-A |
c.6674A>T |
p.Tyr2225Phe |
Missense |
55/66 |
- |
2 |
15-48725144-G-A |
c.6658C>T |
p.Arg2220* |
Nonsense |
55/66 |
- |
1 |
15-48725152-C-T |
c.6650G>A |
p.Cys2217Tyr |
Missense |
55/66 |
- |
1 |
15-48725173-C-T |
c.6629G>A |
p.Cys2210Tyr |
Missense |
55/66 |
- |
1 |
15-48726811-C-T |
c.6596G>A |
p.Gly2199Asp |
Missense |
54/66 |
- |
1 |
15-48726812-C-T |
c.6595G>A |
p.Gly2199Ser |
Missense |
54/66 |
- |
1 |
15-48726838-C-T |
c.6569G>A |
p.Cys2190Tyr |
Missense |
54/66 |
- |
1 |
15-48726856-AC-TA |
c.6550_6551delinsTA |
p.Val2184* |
Nonsense |
54/66 |
- |
1 |
15-48726859-T-C |
c.6548A>G |
p.Asn2183Ser |
Missense |
54/66 |
- |
1 |
15-48726873-A-C |
c.6534T>G |
p.Asn2178Lys |
Missense |
54/66 |
- |
1 |
15-48726873-A-T |
c.6534T>A |
p.Asn2178Lys |
Missense |
54/66 |
- |
1 |
15-48726902-C-T |
c.6505G>A |
p.Glu2169Lys |
Missense |
54/66 |
- |
1 |
15-48729030-T-C |
c.6496+128A>G |
- |
IntronicSNV |
- |
53/65 |
1 |
15-48729178-AG-TA |
c.6475_6476delinsTA |
p.Leu2159* |
Nonsense |
53/66 |
- |
1 |
15-48729208-T-C |
c.6446A>G |
p.Tyr2149Cys |
Missense |
53/66 |
- |
1 |
15-48729214-C-T |
c.6440G>A |
p.Gly2147Asp |
Missense |
53/66 |
- |
1 |
15-48729223-T-C |
c.6431A>G |
p.Asn2144Ser |
Missense |
53/66 |
- |
3 |
15-48729230-A-G |
c.6424T>C |
p.Cys2142Arg |
Missense |
53/66 |
- |
1 |
15-48729231-AC-A |
c.6423del |
p.Gln2141Hisfs*19 |
Frameshift |
53/66 |
- |
1 |
15-48729246-G-C |
c.6408C>G |
p.Val2136Val |
Synonymous |
53/66 |
- |
1 |
15-48729254-G-GG |
c.6402dup |
p.Asp2135Argfs*4 |
Frameshift |
53/66 |
- |
1 |
15-48729263-A-G |
c.6391T>C |
p.Cys2131Arg |
Missense |
53/66 |
- |
1 |
15-48729266-C-T |
c.6388G>A |
p.Glu2130Lys |
Missense |
53/66 |
- |
3 |
15-48729273-A-T |
c.6381T>A |
p.Asp2127Glu |
Missense |
53/66 |
- |
1 |
15-48729274-T-C |
c.6380A>G |
p.Asp2127Gly |
Missense |
53/66 |
- |
1 |
15-48729519-C-A |
c.6379G>T |
p.Asp2127Tyr |
Missense |
52/66 |
- |
1 |
15-48729559-A-C |
c.6339T>G |
p.Tyr2113* |
Nonsense |
52/66 |
- |
3 |
15-48729559-A-T |
c.6339T>A |
p.Tyr2113* |
Nonsense |
52/66 |
- |
3 |
15-48729567-A-G |
c.6331T>C |
p.Cys2111Arg |
Missense |
52/66 |
- |
1 |
15-48729648-T-C |
c.6314-64A>G |
- |
IntronicSNV |
- |
51/65 |
1 |
15-48729966-ATC-TAA |
c.6310_6312delinsTTA |
p.Asp2104Leu |
Nonsense |
51/66 |
- |
2 |
15-48729982-C-T |
c.6296G>A |
p.Cys2099Tyr |
Missense |
51/66 |
- |
1 |
15-48729990-G-T |
c.6288C>A |
p.Cys2096* |
Nonsense |
51/66 |
- |
1 |
15-48730092-A-C |
c.6186T>G |
p.Tyr2062* |
Nonsense |
51/66 |
- |
1 |
15-48730092-A-T |
c.6186T>A |
p.Tyr2062* |
Nonsense |
51/66 |
- |
1 |
15-48730096-C-A |
c.6182G>T |
p.Cys2061Phe |
Missense |
51/66 |
- |
1 |
15-48730105-AT-TA |
c.6172_6173delinsTA |
p.Met2058* |
Nonsense |
51/66 |
- |
1 |
15-48730109-G-A |
c.6169C>T |
p.Arg2057* |
Nonsense |
51/66 |
- |
4 |
15-48733914-CTTAC-C |
c.6163+3_6163+6del |
- |
IntronicDeletion |
- |
50/65 |
1 |
15-48733923-C-A |
c.6158G>T |
p.Cys2053Phe |
Missense |
50/66 |
- |
1 |
15-48733968-C-T |
c.6113G>A |
p.Cys2038Tyr |
Missense |
50/66 |
- |
1 |
15-48734008-C-A |
c.6073G>T |
p.Ala2025Ser |
Missense |
50/66 |
- |
1 |
15-48734010-C-T |
c.6071G>A |
p.Cys2024Tyr |
Missense |
50/66 |
- |
1 |
15-48734026-C-T |
c.6055G>A |
p.Glu2019Lys |
Missense |
50/66 |
- |
3 |
15-48734031-C-T |
c.6050G>A |
p.Cys2017Tyr |
Missense |
50/66 |
- |
1 |
15-48734038-C-T |
c.6043G>A |
p.Asp2015Asn |
Missense |
50/66 |
- |
1 |
15-48734624-G-A |
c.6038-581C>T |
- |
IntronicSNV |
- |
49/65 |
1 |
15-48734624-G-T |
c.6038-581C>A |
- |
IntronicSNV |
- |
49/65 |
1 |
15-48736684-A-T |
c.6037+54T>A |
- |
IntronicSNV |
- |
49/65 |
3 |
15-48736736-A-G |
c.6037+2T>C |
- |
IntronicSNV |
- |
49/65 |
1 |
15-48736738-C-A |
c.6037G>T |
p.Asp2013Tyr |
Missense |
49/66 |
- |
1 |
15-48736744-A-G |
c.6031T>C |
p.Cys2011Arg |
Missense |
49/66 |
- |
1 |
15-48736768-C-G |
c.6007G>C |
p.Gly2003Arg |
Missense |
49/66 |
- |
3 |
15-48736768-C-T |
c.6007G>A |
p.Gly2003Arg |
Missense |
49/66 |
- |
3 |
15-48736775-G-T |
c.6000C>A |
p.Cys2000* |
Nonsense |
49/66 |
- |
1 |
15-48736828-T-A |
c.5947A>T |
p.Lys1983* |
Nonsense |
49/66 |
- |
1 |
15-48736845-C-T |
c.5930G>A |
p.Cys1977Tyr |
Missense |
49/66 |
- |
2 |
15-48736846-A-G |
c.5929T>C |
p.Cys1977Arg |
Missense |
49/66 |
- |
2 |
15-48736857-T-C |
c.5918A>G |
p.Asp1973Gly |
Missense |
49/66 |
- |
1 |
15-48736858-C-T |
c.5918-1G>A |
- |
IntronicSNV |
- |
48/65 |
1 |
15-48737567-A-G |
c.5917+6T>C |
- |
IntronicSNV |
- |
48/65 |
2 |
15-48737571-A-G |
c.5917+2T>C |
- |
IntronicSNV |
- |
48/65 |
1 |
15-48737577-A-T |
c.5913T>A |
p.Cys1971* |
Nonsense |
48/66 |
- |
1 |
15-48737578-C-T |
c.5912G>A |
p.Cys1971Tyr |
Missense |
48/66 |
- |
1 |
15-48737617-C-T |
c.5873G>A |
p.Cys1958Tyr |
Missense |
48/66 |
- |
3 |
15-48737618-A-G |
c.5872T>C |
p.Cys1958Arg |
Missense |
48/66 |
- |
1 |
15-48737618-A-T |
c.5872T>A |
p.Cys1958Ser |
Missense |
48/66 |
- |
1 |
15-48737624-A-G |
c.5866T>C |
p.Cys1956Arg |
Missense |
48/66 |
- |
1 |
15-48737627-G-A |
c.5863C>T |
p.Gln1955* |
Nonsense |
48/66 |
- |
2 |
15-48737633-A-AA |
c.5857dup |
p.Ser1953Phefs*8 |
Frameshift |
48/66 |
- |
1 |
15-48737637-CC-C |
c.5856del |
p.Ser1953Leufs*27 |
Frameshift |
48/66 |
- |
1 |
15-48737649-G-T |
c.5841C>A |
p.Cys1947* |
Nonsense |
48/66 |
- |
1 |
15-48737664-G-T |
c.5826C>A |
p.Cys1942* |
Nonsense |
48/66 |
- |
1 |
15-48738898-C-T |
c.5788+5G>A |
- |
IntronicSNV |
- |
47/65 |
2 |
15-48738902-C-T |
c.5788+1G>A |
- |
IntronicSNV |
- |
47/65 |
1 |
15-48738903-C-G |
c.5788G>C |
p.Asp1930His |
Missense |
47/66 |
- |
2 |
15-48738903-C-T |
c.5788G>A |
p.Asp1930Asn |
Missense |
47/66 |
- |
1 |
15-48738908-C-G |
c.5783G>C |
p.Cys1928Ser |
Missense |
47/66 |
- |
1 |
15-48738909-A-T |
c.5782T>A |
p.Cys1928Ser |
Missense |
47/66 |
- |
1 |
15-48738928-GG-G |
c.5764del |
p.Leu1922Phefs*8 |
Frameshift |
47/66 |
- |
1 |
15-48738949-G-T |
c.5742C>A |
p.Cys1914* |
Nonsense |
47/66 |
- |
1 |
15-48738956-A-C |
c.5735T>G |
p.Phe1912Cys |
Missense |
47/66 |
- |
1 |
15-48738992-C-G |
c.5699G>C |
p.Cys1900Ser |
Missense |
47/66 |
- |
1 |
15-48738993-A-T |
c.5698T>A |
p.Cys1900Ser |
Missense |
47/66 |
- |
1 |
15-48739016-AT-TA |
c.5674_5675delinsTA |
p.Ile1892* |
Nonsense |
47/66 |
- |
1 |
15-48739022-A-G |
c.5672-3T>C |
- |
IntronicSNV |
- |
46/65 |
1 |
15-48740965-C-G |
c.5671G>C |
p.Asp1891His |
Missense |
46/66 |
- |
1 |
15-48740965-C-T |
c.5671G>A |
p.Asp1891Asn |
Missense |
46/66 |
- |
1 |
15-48741057-C-A |
c.5579G>T |
p.Cys1860Phe |
Missense |
46/66 |
- |
1 |
15-48741077-GA-G |
c.5559del |
p.Gln1854Lysfs*39 |
Frameshift |
46/66 |
- |
1 |
15-48741078-C-G |
c.5558G>C |
p.Cys1853Ser |
Missense |
46/66 |
- |
1 |
15-48741087-C-T |
c.5549G>A |
p.Arg1850His |
Missense |
46/66 |
- |
1 |
15-48744764-C-A |
c.5540G>T |
p.Cys1847Phe |
Missense |
45/66 |
- |
1 |
15-48744776-G-A |
c.5528C>T |
p.Ser1843Phe |
Missense |
45/66 |
- |
1 |
15-48744786-G-A |
c.5518C>T |
p.Arg1840Cys |
Missense |
45/66 |
- |
1 |
15-48744800-CA-GC |
c.5503_5504delinsGC |
p.Cys1835Ala |
Missense |
45/66 |
- |
1 |
15-48744810-G-A |
c.5494C>T |
p.Arg1832Cys |
Missense |
45/66 |
- |
1 |
15-48744849-G-A |
c.5455C>T |
p.Gln1819* |
Nonsense |
45/66 |
- |
1 |
15-48744861-C-T |
c.5443G>A |
p.Gly1815Ser |
Missense |
45/66 |
- |
1 |
15-48744870-A-G |
c.5434T>C |
p.Cys1812Arg |
Missense |
45/66 |
- |
1 |
15-48744873-C-T |
c.5431G>A |
p.Glu1811Lys |
Missense |
45/66 |
- |
1 |
15-48747230-G-A |
c.5422+1604C>T |
- |
IntronicSNV |
- |
44/65 |
1 |
15-48747440-C-T |
c.5422+1394G>A |
- |
IntronicSNV |
- |
44/65 |
1 |
15-48748834-C-G |
c.5422G>C |
p.Asp1808His |
Missense |
44/66 |
- |
1 |
15-48748839-C-T |
c.5417G>A |
p.Cys1806Tyr |
Missense |
44/66 |
- |
1 |
15-48748869-C-T |
c.5387G>A |
p.Gly1796Glu |
Missense |
44/66 |
- |
2 |
15-48748878-CA-AC |
c.5377_5378delinsGT |
p.Cys1793Val |
Missense |
44/66 |
- |
1 |
15-48748879-A-T |
c.5377T>A |
p.Cys1793Ser |
Missense |
44/66 |
- |
1 |
15-48748884-C-T |
c.5372G>A |
p.Cys1791Tyr |
Missense |
44/66 |
- |
1 |
15-48748888-G-A |
c.5368C>T |
p.Arg1790* |
Nonsense |
44/66 |
- |
1 |
15-48748905-T-C |
c.5351A>G |
p.Asn1784Ser |
Missense |
44/66 |
- |
1 |
15-48748909-T-A |
c.5347A>T |
p.Ile1783Phe |
Missense |
44/66 |
- |
1 |
15-48748912-A-G |
c.5344T>C |
p.Cys1782Arg |
Missense |
44/66 |
- |
1 |
15-48748913-C-T |
c.5343G>A |
p.Val1781Val |
Synonymous |
44/66 |
- |
2 |
15-48748917-C-G |
c.5339G>C |
p.Gly1780Ala |
Missense |
44/66 |
- |
1 |
15-48748926-C-T |
c.5330G>A |
p.Cys1777Tyr |
Missense |
44/66 |
- |
1 |
15-48748947-C-T |
c.5309G>A |
p.Cys1770Tyr |
Missense |
44/66 |
- |
1 |
15-48752447-G-A |
c.5292C>T |
p.Pro1764Pro |
Synonymous |
43/66 |
- |
1 |
15-48752455-C-T |
c.5284G>A |
p.Gly1762Ser |
Missense |
43/66 |
- |
4 |
15-48752457-G-A |
c.5282C>T |
p.Thr1761Ile |
Missense |
43/66 |
- |
2 |
15-48752466-T-A |
c.5273A>T |
p.Asp1758Val |
Missense |
43/66 |
- |
2 |
15-48752481-TGGCCTTTGAC-T |
c.5249_5258del |
p.Ser1750Lysfs*140 |
Frameshift |
43/66 |
- |
1 |
15-48752489-A-C |
c.5250T>G |
p.Ser1750Arg |
Missense |
43/66 |
- |
3 |
15-48752489-A-T |
c.5250T>A |
p.Ser1750Arg |
Missense |
43/66 |
- |
3 |
15-48752489-GACT-G |
c.5248_5250del |
p.Ser1750del |
InFrameDeletion |
43/66 |
- |
1 |
15-48752491-T-G |
c.5248A>C |
p.Ser1750Arg |
Missense |
43/66 |
- |
3 |
15-48752496-C-A |
c.5243G>T |
p.Cys1748Phe |
Missense |
43/66 |
- |
1 |
15-48752496-C-T |
c.5243G>A |
p.Cys1748Tyr |
Missense |
43/66 |
- |
1 |
15-48752496-C-G |
c.5243G>C |
p.Cys1748Ser |
Missense |
43/66 |
- |
1 |
15-48752497-A-G |
c.5242T>C |
p.Cys1748Arg |
Missense |
43/66 |
- |
4 |
15-48752497-A-T |
c.5242T>A |
p.Cys1748Ser |
Missense |
43/66 |
- |
1 |
15-48752674-T-A |
c.5225-160A>T |
- |
IntronicSNV |
- |
42/65 |
1 |
15-48753145-C-A |
c.5225-631G>T |
- |
IntronicSNV |
- |
42/65 |
1 |
15-48755168-T-C |
c.5224+111A>G |
- |
IntronicSNV |
- |
42/65 |
3 |
15-48755295-A-T |
c.5208T>A |
p.Cys1736* |
Nonsense |
42/66 |
- |
1 |
15-48755302-TT-T |
c.5202del |
p.Glu1734Aspfs*159 |
Frameshift |
42/66 |
- |
1 |
15-48755305-C-A |
c.5198G>T |
p.Cys1733Phe |
Missense |
42/66 |
- |
1 |
15-48755305-C-T |
c.5198G>A |
p.Cys1733Tyr |
Missense |
42/66 |
- |
1 |
15-48755320-G-A |
c.5183C>T |
p.Ala1728Val |
Missense |
42/66 |
- |
3 |
15-48755321-C-T |
c.5182G>A |
p.Ala1728Thr |
Missense |
42/66 |
- |
2 |
15-48755326-C-A |
c.5177G>T |
p.Gly1726Val |
Missense |
42/66 |
- |
3 |
15-48755338-G-C |
c.5165C>G |
p.Ser1722Cys |
Missense |
42/66 |
- |
2 |
15-48755341-C-T |
c.5162G>A |
p.Cys1721Tyr |
Missense |
42/66 |
- |
2 |
15-48755344-C-T |
c.5159G>A |
p.Cys1720Tyr |
Missense |
42/66 |
- |
1 |
15-48755346-G-C |
c.5157C>G |
p.Cys1719Trp |
Missense |
42/66 |
- |
2 |
15-48755347-C-T |
c.5156G>A |
p.Cys1719Tyr |
Missense |
42/66 |
- |
1 |
15-48755362-A-C |
c.5141T>G |
p.Met1714Arg |
Missense |
42/66 |
- |
2 |
15-48755386-C-T |
c.5117G>A |
p.Cys1706Tyr |
Missense |
42/66 |
- |
3 |
15-48755404-T-C |
c.5099A>G |
p.Tyr1700Cys |
Missense |
42/66 |
- |
3 |
15-48755407-T-C |
c.5096A>G |
p.Tyr1699Cys |
Missense |
42/66 |
- |
2 |
15-48755408-A-C |
c.5095T>G |
p.Tyr1699Asp |
Missense |
42/66 |
- |
2 |
15-48755416-T-C |
c.5087A>G |
p.Tyr1696Cys |
Missense |
42/66 |
- |
3 |
15-48755417-A-C |
c.5086T>G |
p.Tyr1696Asp |
Missense |
42/66 |
- |
1 |
15-48755419-C-A |
c.5084G>T |
p.Cys1695Phe |
Missense |
42/66 |
- |
1 |
15-48755419-C-T |
c.5084G>A |
p.Cys1695Tyr |
Missense |
42/66 |
- |
2 |
15-48755430-TTCT-T |
c.5076_5078del |
p.Arg1692del |
InFrameDeletion |
42/66 |
- |
1 |
15-48756095-C-T |
c.5065+1G>A |
- |
IntronicSNV |
- |
41/65 |
1 |
15-48756129-A-C |
c.5032T>G |
p.Tyr1678Asp |
Missense |
41/66 |
- |
1 |
15-48756146-AC-A |
c.5015del |
p.Cys1672Leufs*10 |
Frameshift |
41/66 |
- |
1 |
15-48756146-C-G |
c.5015G>C |
p.Cys1672Ser |
Missense |
41/66 |
- |
1 |
15-48756174-A-C |
c.4987T>G |
p.Cys1663Gly |
Missense |
41/66 |
- |
1 |
15-48756174-A-G |
c.4987T>C |
p.Cys1663Arg |
Missense |
41/66 |
- |
7 |
15-48756193-T-TT |
c.4969dup |
p.Ile1657Asnfs*30 |
Frameshift |
41/66 |
- |
1 |
15-48757195-A-G |
c.4942+570T>C |
- |
IntronicSNV |
- |
40/65 |
6 |
15-48757460-T-C |
c.4942+305A>G |
- |
IntronicSNV |
- |
40/65 |
1 |
15-48757770-C-T |
c.4937G>A |
p.Cys1646Tyr |
Missense |
40/66 |
- |
1 |
15-48757777-G-A |
c.4930C>T |
p.Arg1644* |
Nonsense |
40/66 |
- |
2 |
15-48757782-T-C |
c.4925A>G |
p.Asp1642Gly |
Missense |
40/66 |
- |
1 |
15-48757809-CA-AC |
c.4897_4898delinsGT |
p.Cys1633Val |
Missense |
40/66 |
- |
1 |
15-48757810-A-G |
c.4897T>C |
p.Cys1633Arg |
Missense |
40/66 |
- |
1 |
15-48757816-A-C |
c.4891T>G |
p.Cys1631Gly |
Missense |
40/66 |
- |
1 |
15-48757816-AC-CA |
c.4890_4891delinsTG |
p.Gln1630_Cys1631delinsHisGly |
MultiAAMissense |
40/66 |
- |
1 |
15-48757819-G-A |
c.4888C>T |
p.Gln1630* |
Nonsense |
40/66 |
- |
1 |
15-48757843-A-G |
c.4864T>C |
p.Cys1622Arg |
Missense |
40/66 |
- |
1 |
15-48757877-GG-G |
c.4831del |
p.Gln1611Argfs*29 |
Frameshift |
40/66 |
- |
1 |
15-48757891-C-T |
c.4817-1G>A |
- |
IntronicSNV |
- |
39/65 |
1 |
15-48757892-CT-C |
c.4817-2del |
- |
IntronicDeletion |
- |
39/65 |
1 |
15-48757990-C-T |
c.4813G>A |
p.Glu1605Lys |
Missense |
39/66 |
- |
1 |
15-48758016-C-G |
c.4787G>C |
p.Arg1596Pro |
Missense |
39/66 |
- |
1 |
15-48758017-G-A |
c.4786C>T |
p.Arg1596* |
Nonsense |
39/66 |
- |
4 |
15-48758022-CC-AA |
c.4780_4781delinsTT |
p.Gly1594Phe |
Missense |
39/66 |
- |
2 |
15-48758022-C-T |
c.4781G>A |
p.Gly1594Asp |
Missense |
39/66 |
- |
1 |
15-48758037-C-A |
c.4766G>T |
p.Cys1589Phe |
Missense |
39/66 |
- |
2 |
15-48758053-C-T |
c.4750G>A |
p.Glu1584Lys |
Missense |
39/66 |
- |
1 |
15-48758132-A-C |
c.4748-77T>G |
- |
IntronicSNV |
- |
38/65 |
1 |
15-48759291-G-T |
c.4747+844C>A |
- |
IntronicSNV |
- |
38/65 |
2 |
15-48760153-A-C |
c.4729T>G |
p.Cys1577Gly |
Missense |
38/66 |
- |
2 |
15-48760155-A-G |
c.4727T>C |
p.Met1576Thr |
Missense |
38/66 |
- |
2 |
15-48760171-C-A |
c.4711G>T |
p.Gly1571Cys |
Missense |
38/66 |
- |
1 |
15-48760172-C-A |
c.4710G>T |
p.Trp1570Cys |
Missense |
38/66 |
- |
5 |
15-48760172-C-G |
c.4710G>C |
p.Trp1570Cys |
Missense |
38/66 |
- |
6 |
15-48760191-C-T |
c.4691G>A |
p.Cys1564Tyr |
Missense |
38/66 |
- |
1 |
15-48760191-C-G |
c.4691G>C |
p.Cys1564Ser |
Missense |
38/66 |
- |
3 |
15-48760254-T-G |
c.4628A>C |
p.Asp1543Ala |
Missense |
38/66 |
- |
1 |
15-48760261-G-A |
c.4621C>T |
p.Arg1541* |
Nonsense |
38/66 |
- |
3 |
15-48760294-G-A |
c.4588C>T |
p.Arg1530Cys |
Missense |
38/66 |
- |
4 |
15-48760624-G-A |
c.4567C>T |
p.Arg1523* |
Nonsense |
37/66 |
- |
2 |
15-48760645-CAG-ATCT |
c.4544_4546delinsAGAT |
p.Pro1515Glnfs*4 |
Frameshift |
37/66 |
- |
1 |
15-48760659-C-A |
c.4532G>T |
p.Cys1511Phe |
Missense |
37/66 |
- |
1 |
15-48760660-A-G |
c.4531T>C |
p.Cys1511Arg |
Missense |
37/66 |
- |
1 |
15-48760664-A-AA |
c.4527dup |
p.Ile1510Tyrfs*3 |
Frameshift |
37/66 |
- |
1 |
15-48760687-A-T |
c.4504T>A |
p.Cys1502Ser |
Missense |
37/66 |
- |
1 |
15-48760724-A-T |
c.4467T>A |
p.Asn1489Lys |
Missense |
37/66 |
- |
2 |
15-48760725-TT-CT |
c.4466delinsG |
p.Asn1489Ser |
Missense |
37/66 |
- |
1 |
15-48760731-T-C |
c.4460A>G |
p.Asp1487Gly |
Missense |
37/66 |
- |
1 |
15-48760731-T-G |
c.4460A>C |
p.Asp1487Ala |
Missense |
37/66 |
- |
1 |
15-48762832-CT-C |
c.4458del |
p.Asp1487Metfs*2 |
UnclassifiedDeletion |
36/66 |
- |
1 |
15-48762836-C-T |
c.4454G>A |
p.Cys1485Tyr |
Missense |
36/66 |
- |
1 |
15-48762837-A-G |
c.4453T>C |
p.Cys1485Arg |
Missense |
36/66 |
- |
1 |
15-48762853-G-C |
c.4437C>G |
p.Asp1479Glu |
Missense |
36/66 |
- |
1 |
15-48762853-G-T |
c.4437C>A |
p.Asp1479Glu |
Missense |
36/66 |
- |
1 |
15-48762861-C-A |
c.4429G>T |
p.Glu1477* |
Nonsense |
36/66 |
- |
1 |
15-48762884-C-G |
c.4406G>C |
p.Arg1469Pro |
Missense |
36/66 |
- |
1 |
15-48762909-A-G |
c.4381T>C |
p.Cys1461Arg |
Missense |
36/66 |
- |
1 |
15-48762940-AGCA-A |
c.4349_4351del |
p.Cys1450del |
InFrameDeletion |
36/66 |
- |
2 |
15-48762942-A-C |
c.4348T>G |
p.Cys1450Gly |
Missense |
36/66 |
- |
1 |
15-48762943-C-A |
c.4347G>T |
p.Glu1449Asp |
Missense |
36/66 |
- |
1 |
15-48764753-C-T |
c.4331G>A |
p.Cys1444Tyr |
Missense |
35/66 |
- |
1 |
15-48764762-CC-TA |
c.4321_4322delinsTA |
p.Gly1441* |
Nonsense |
35/66 |
- |
1 |
15-48764792-C-T |
c.4292G>A |
p.Cys1431Tyr |
Missense |
35/66 |
- |
2 |
15-48764793-A-G |
c.4291T>C |
p.Cys1431Arg |
Missense |
35/66 |
- |
1 |
15-48764801-C-CC |
c.4283dup |
p.Cys1429Leufs*2 |
Frameshift |
35/66 |
- |
1 |
15-48764803-GG-G |
c.4282del |
p.Arg1428Alafs*47 |
Frameshift |
35/66 |
- |
1 |
15-48764814-G-C |
c.4270C>G |
p.Pro1424Ala |
Missense |
35/66 |
- |
3 |
15-48764815-GTG-G |
c.4269_4270del |
p.Pro1424Argfs*6 |
Frameshift |
35/66 |
- |
1 |
15-48764825-C-A |
c.4259G>T |
p.Cys1420Phe |
Missense |
35/66 |
- |
1 |
15-48764827-ACTGGCCA-A |
c.4253_4259del |
p.Gly1418Alafs*55 |
Frameshift |
35/66 |
- |
1 |
15-48764829-G-A |
c.4255C>T |
p.Gln1419* |
Nonsense |
35/66 |
- |
1 |
15-48764849-AG-TA |
c.4234_4235delinsTA |
p.Leu1412* |
Nonsense |
35/66 |
- |
2 |
15-48764861-C-A |
c.4223G>T |
p.Cys1408Phe |
Missense |
35/66 |
- |
2 |
15-48764862-A-G |
c.4222T>C |
p.Cys1408Arg |
Missense |
35/66 |
- |
2 |
15-48764867-T-C |
c.4217A>G |
p.Asp1406Gly |
Missense |
35/66 |
- |
1 |
15-48764870-A-C |
c.4214T>G |
p.Leu1405Arg |
Missense |
35/66 |
- |
2 |
15-48764874-C-T |
c.4211-1G>A |
- |
IntronicSNV |
- |
34/65 |
1 |
15-48766015-T-A |
c.4210+437A>T |
- |
IntronicSNV |
- |
34/65 |
2 |
15-48766452-C-A |
c.4210G>T |
p.Asp1404Tyr |
Missense |
34/66 |
- |
1 |
15-48766456-A-C |
c.4206T>G |
p.Cys1402Trp |
Missense |
34/66 |
- |
1 |
15-48766499-C-T |
c.4163G>A |
p.Arg1388His |
Missense |
34/66 |
- |
1 |
15-48766502-T-TT |
c.4160dup |
p.Tyr1387* |
Nonsense |
34/66 |
- |
1 |
15-48766519-C-G |
c.4143G>C |
p.Lys1381Asn |
Missense |
34/66 |
- |
1 |
15-48766566-C-T |
c.4096G>A |
p.Glu1366Lys |
Missense |
34/66 |
- |
2 |
15-48766725-C-T |
c.4087G>A |
p.Asp1363Asn |
Missense |
33/66 |
- |
1 |
15-48766730-CA-AA |
c.4082delinsT |
p.Cys1361Phe |
Missense |
33/66 |
- |
1 |
15-48766730-CA-TT |
c.4081_4082delinsAA |
p.Cys1361Asn |
Missense |
33/66 |
- |
1 |
15-48766730-C-T |
c.4082G>A |
p.Cys1361Tyr |
Missense |
33/66 |
- |
1 |
15-48766755-C-T |
c.4057G>A |
p.Gly1353Arg |
Missense |
33/66 |
- |
1 |
15-48766763-C-T |
c.4049G>A |
p.Cys1350Tyr |
Missense |
33/66 |
- |
1 |
15-48766790-T-C |
c.4022A>G |
p.Asn1341Ser |
Missense |
33/66 |
- |
1 |
15-48766811-C-T |
c.4001G>A |
p.Gly1334Asp |
Missense |
33/66 |
- |
1 |
15-48766818-TT-T |
c.3995del |
p.Asn1332Thrfs*81 |
Frameshift |
33/66 |
- |
1 |
15-48766836-A-G |
c.3976T>C |
p.Cys1326Arg |
Missense |
33/66 |
- |
2 |
15-48766849-T-C |
c.3965-2A>G |
- |
IntronicSNV |
- |
32/65 |
1 |
15-48766855-A-G |
c.3965-8T>C |
- |
IntronicSNV |
- |
32/65 |
1 |
15-48767178-C-T |
c.3965-331G>A |
- |
IntronicSNV |
- |
32/65 |
1 |
15-48770961-A-C |
c.3964+2891T>G |
- |
IntronicSNV |
- |
32/65 |
1 |
15-48771419-C-G |
c.3964+2433G>C |
- |
IntronicSNV |
- |
32/65 |
1 |
15-48773852-C-T |
c.3964G>A |
p.Asp1322Asn |
Missense |
32/66 |
- |
1 |
15-48773856-A-T |
c.3960T>A |
p.Cys1320* |
Nonsense |
32/66 |
- |
1 |
15-48773857-C-T |
c.3959G>A |
p.Cys1320Tyr |
Missense |
32/66 |
- |
1 |
15-48773857-C-G |
c.3959G>C |
p.Cys1320Ser |
Missense |
32/66 |
- |
1 |
15-48773858-A-T |
c.3958T>A |
p.Cys1320Ser |
Missense |
32/66 |
- |
1 |
15-48773879-C-T |
c.3937G>A |
p.Gly1313Ser |
Missense |
32/66 |
- |
1 |
15-48773884-T-C |
c.3932A>G |
p.Tyr1311Cys |
Missense |
32/66 |
- |
1 |
15-48773888-C-T |
c.3928G>A |
p.Gly1310Ser |
Missense |
32/66 |
- |
1 |
15-48773909-AA-A |
c.3909del |
p.Phe1303Leufs*110 |
Frameshift |
32/66 |
- |
1 |
15-48773914-C-A |
c.3902G>T |
p.Gly1301Val |
Missense |
32/66 |
- |
1 |
15-48773918-T-C |
c.3898A>G |
p.Lys1300Glu |
Missense |
32/66 |
- |
1 |
15-48773920-G-A |
c.3896C>T |
p.Thr1299Met |
Missense |
32/66 |
- |
1 |
15-48773926-T-C |
c.3890A>G |
p.Glu1297Gly |
Missense |
32/66 |
- |
3 |
15-48773971-T-C |
c.3845A>G |
p.Asn1282Ser |
Missense |
32/66 |
- |
2 |
15-48776014-C-G |
c.3838+1G>C |
- |
IntronicSNV |
- |
31/65 |
1 |
15-48776020-C-T |
c.3833G>A |
p.Cys1278Tyr |
Missense |
31/66 |
- |
1 |
15-48776029-AT-TA |
c.3823_3824delinsTA |
p.Met1275* |
Nonsense |
31/66 |
- |
1 |
15-48776056-T-A |
c.3797A>T |
p.Tyr1266Phe |
Missense |
31/66 |
- |
2 |
15-48776075-C-A |
c.3778G>T |
p.Glu1260* |
Nonsense |
31/66 |
- |
2 |
15-48776092-C-T |
c.3761G>A |
p.Cys1254Tyr |
Missense |
31/66 |
- |
2 |
15-48776096-G-A |
c.3757C>T |
p.Gln1253* |
Nonsense |
31/66 |
- |
1 |
15-48776105-C-A |
c.3748G>T |
p.Asp1250Tyr |
Missense |
31/66 |
- |
1 |
15-48776128-C-T |
c.3725G>A |
p.Cys1242Tyr |
Missense |
31/66 |
- |
2 |
15-48776140-T-C |
c.3713A>G |
p.Asp1238Gly |
Missense |
31/66 |
- |
1 |
15-48777571-C-T |
c.3712G>A |
p.Asp1238Asn |
Missense |
30/66 |
- |
1 |
15-48777580-A-G |
c.3703T>C |
p.Ser1235Pro |
Missense |
30/66 |
- |
1 |
15-48777606-C-G |
c.3677G>C |
p.Gly1226Ala |
Missense |
30/66 |
- |
1 |
15-48777609-G-A |
c.3674C>T |
p.Pro1225Leu |
Missense |
30/66 |
- |
1 |
15-48777615-C-T |
c.3668G>A |
p.Cys1223Tyr |
Missense |
30/66 |
- |
3 |
15-48777621-C-T |
c.3662G>A |
p.Cys1221Tyr |
Missense |
30/66 |
- |
1 |
15-48777622-A-G |
c.3661T>C |
p.Cys1221Arg |
Missense |
30/66 |
- |
1 |
15-48777627-T-C |
c.3656A>G |
p.Tyr1219Cys |
Missense |
30/66 |
- |
1 |
15-48777634-C-T |
c.3649G>A |
p.Gly1217Ser |
Missense |
30/66 |
- |
1 |
15-48777666-C-T |
c.3617G>A |
p.Gly1206Asp |
Missense |
30/66 |
- |
1 |
15-48777682-A-G |
c.3601T>C |
p.Cys1201Arg |
Missense |
30/66 |
- |
1 |
15-48777685-C-T |
c.3598G>A |
p.Glu1200Lys |
Missense |
30/66 |
- |
1 |
15-48779282-TAG-TGG |
c.3578delinsC |
p.Leu1193Pro |
Missense |
29/66 |
- |
1 |
15-48779286-CT-TA |
c.3574_3575delinsTA |
p.Arg1192* |
Nonsense |
29/66 |
- |
2 |
15-48779288-ATC-TAA |
c.3571_3573delinsTTA |
p.Asp1191Leu |
Nonsense |
29/66 |
- |
1 |
15-48779290-C-T |
c.3571G>A |
p.Asp1191Asn |
Missense |
29/66 |
- |
2 |
15-48779304-T-C |
c.3557A>G |
p.Tyr1186Cys |
Missense |
29/66 |
- |
1 |
15-48779316-C-G |
c.3545G>C |
p.Cys1182Ser |
Missense |
29/66 |
- |
1 |
15-48779317-A-T |
c.3544T>A |
p.Cys1182Ser |
Missense |
29/66 |
- |
1 |
15-48779350-A-G |
c.3511T>C |
p.Cys1171Arg |
Missense |
29/66 |
- |
2 |
15-48779352-C-T |
c.3509G>A |
p.Arg1170His |
Missense |
29/66 |
- |
5 |
15-48779365-A-G |
c.3496T>C |
p.Cys1166Arg |
Missense |
29/66 |
- |
1 |
15-48779379-AG-TA |
c.3481_3482delinsTA |
p.Leu1161* |
Nonsense |
29/66 |
- |
1 |
15-48779386-A-C |
c.3475T>G |
p.Cys1159Gly |
Missense |
29/66 |
- |
1 |
15-48779389-C-A |
c.3472G>T |
p.Glu1158* |
Nonsense |
29/66 |
- |
1 |
15-48779390-ATT-TAA |
c.3469_3471delinsTTA |
p.Asn1157Leu |
Nonsense |
29/66 |
- |
1 |
15-48779397-T-C |
c.3464A>G |
p.Asp1155Gly |
Missense |
29/66 |
- |
1 |
15-48779399-T-C |
c.3464-2A>G |
- |
IntronicSNV |
- |
28/65 |
1 |
15-48779402-C-T |
c.3464-5G>A |
- |
IntronicSNV |
- |
28/65 |
3 |
15-48779506-T-C |
c.3463+3A>G |
- |
IntronicSNV |
- |
28/65 |
1 |
15-48779508-C-A |
c.3463+1G>T |
- |
IntronicSNV |
- |
28/65 |
1 |
15-48779509-C-T |
c.3463G>A |
p.Asp1155Asn |
Missense |
28/66 |
- |
3 |
15-48779514-C-T |
c.3458G>A |
p.Cys1153Tyr |
Missense |
28/66 |
- |
1 |
15-48779517-G-A |
c.3455C>T |
p.Ala1152Val |
Missense |
28/66 |
- |
1 |
15-48779530-G-C |
c.3442C>G |
p.Pro1148Ala |
Missense |
28/66 |
- |
5 |
15-48779535-A-C |
c.3437T>G |
p.Leu1146Arg |
Missense |
28/66 |
- |
1 |
15-48779540-A-AAGACAGCTGA |
c.3440_3441insTTCAGCTGTC |
p.Pro1148Serfs*14 |
Frameshift |
28/66 |
- |
1 |
15-48779544-C-T |
c.3428G>A |
p.Gly1143Asp |
Missense |
28/66 |
- |
1 |
15-48779550-G-A |
c.3422C>T |
p.Pro1141Leu |
Missense |
28/66 |
- |
1 |
15-48779560-A-G |
c.3412T>C |
p.Cys1138Arg |
Missense |
28/66 |
- |
1 |
15-48779562-C-G |
c.3410G>C |
p.Arg1137Pro |
Missense |
28/66 |
- |
1 |
15-48779576-CT-C |
c.3396del |
p.Glu1133Argfs*29 |
Frameshift |
28/66 |
- |
1 |
15-48779581-T-A |
c.3391A>T |
p.Asn1131Tyr |
Missense |
28/66 |
- |
1 |
15-48779585-GG-G |
c.3388del |
p.His1130Ilefs*32 |
Frameshift |
28/66 |
- |
1 |
15-48779586-C-T |
c.3386G>A |
p.Cys1129Tyr |
Missense |
28/66 |
- |
2 |
15-48779590-C-T |
c.3382G>A |
p.Val1128Ile |
Missense |
28/66 |
- |
1 |
15-48779593-C-T |
c.3379G>A |
p.Gly1127Ser |
Missense |
28/66 |
- |
3 |
15-48779599-G-A |
c.3373C>T |
p.Arg1125* |
Nonsense |
28/66 |
- |
2 |
15-48779620-G-A |
c.3352C>T |
p.Gln1118* |
Nonsense |
28/66 |
- |
1 |
15-48779622-C-T |
c.3350G>A |
p.Cys1117Tyr |
Missense |
28/66 |
- |
3 |
15-48779628-T-C |
c.3344A>G |
p.Asp1115Gly |
Missense |
28/66 |
- |
1 |
15-48779634-T-C |
c.3338A>G |
p.Asp1113Gly |
Missense |
28/66 |
- |
2 |
15-48780207-G-A |
c.3337+103C>T |
- |
IntronicSNV |
- |
27/65 |
1 |
15-48780309-C-T |
c.3337+1G>A |
- |
IntronicSNV |
- |
27/65 |
1 |
15-48780315-C-T |
c.3332G>A |
p.Cys1111Tyr |
Missense |
27/66 |
- |
1 |
15-48780316-A-G |
c.3331T>C |
p.Cys1111Arg |
Missense |
27/66 |
- |
1 |
15-48780345-T-C |
c.3302A>G |
p.Tyr1101Cys |
Missense |
27/66 |
- |
1 |
15-48780348-C-A |
c.3299G>T |
p.Gly1100Val |
Missense |
27/66 |
- |
3 |
15-48780352-C-A |
c.3295G>T |
p.Glu1099* |
Nonsense |
27/66 |
- |
1 |
15-48780357-C-T |
c.3290G>A |
p.Cys1097Tyr |
Missense |
27/66 |
- |
1 |
15-48780409-G-C |
c.3238C>G |
p.Leu1080Val |
Missense |
27/66 |
- |
1 |
15-48780428-T-A |
c.3219A>T |
p.Glu1073Asp |
Missense |
27/66 |
- |
2 |
15-48780430-C-T |
c.3217G>A |
p.Glu1073Lys |
Missense |
27/66 |
- |
3 |
15-48780430-TC-T |
c.3217del |
p.Glu1073Asnfs*15 |
Frameshift |
27/66 |
- |
1 |
15-48780435-A-C |
c.3212T>G |
p.Ile1071Ser |
Missense |
27/66 |
- |
2 |
15-48780438-T-C |
c.3209A>G |
p.Asp1070Gly |
Missense |
27/66 |
- |
3 |
15-48780571-A-G |
c.3202T>C |
p.Cys1068Arg |
Missense |
26/66 |
- |
1 |
15-48780585-G-C |
c.3188C>G |
p.Ser1063Cys |
Missense |
26/66 |
- |
1 |
15-48780595-C-T |
c.3178G>A |
p.Ala1060Thr |
Missense |
26/66 |
- |
1 |
15-48780616-A-G |
c.3157T>C |
p.Cys1053Arg |
Missense |
26/66 |
- |
1 |
15-48780621-A-C |
c.3152T>G |
p.Phe1051Cys |
Missense |
26/66 |
- |
1 |
15-48780628-C-T |
c.3145G>A |
p.Gly1049Ser |
Missense |
26/66 |
- |
1 |
15-48780630-A-G |
c.3143T>C |
p.Ile1048Thr |
Missense |
26/66 |
- |
4 |
15-48780642-C-T |
c.3131G>A |
p.Cys1044Tyr |
Missense |
26/66 |
- |
1 |
15-48780645-T-C |
c.3128A>G |
p.Lys1043Arg |
Missense |
26/66 |
- |
1 |
15-48780650-G-A |
c.3123C>T |
p.His1041His |
Synonymous |
26/66 |
- |
1 |
15-48780657-C-T |
c.3116G>A |
p.Cys1039Tyr |
Missense |
26/66 |
- |
2 |
15-48780658-A-C |
c.3115T>G |
p.Cys1039Gly |
Missense |
26/66 |
- |
77 |
15-48780678-C-T |
c.3095G>A |
p.Cys1032Tyr |
Missense |
26/66 |
- |
2 |
15-48780684-T-C |
c.3089A>G |
p.Asn1030Ser |
Missense |
26/66 |
- |
3 |
15-48780690-T-C |
c.3083A>G |
p.Asp1028Gly |
Missense |
26/66 |
- |
1 |
15-48780692-T-C |
c.3083-2A>G |
- |
IntronicSNV |
- |
25/65 |
1 |
15-48782061-C-A |
c.3069G>T |
p.Lys1023Asn |
Missense |
25/66 |
- |
2 |
15-48782066-C-A |
c.3064G>T |
p.Gly1022* |
Nonsense |
25/66 |
- |
1 |
15-48782072-T-C |
c.3058A>G |
p.Thr1020Ala |
Missense |
25/66 |
- |
5 |
15-48782090-A-AA |
c.3042dup |
p.Ala1015Cysfs*17 |
Frameshift |
25/66 |
- |
1 |
15-48782093-C-T |
c.3037G>A |
p.Gly1013Arg |
Missense |
25/66 |
- |
4 |
15-48782104-G-C |
c.3026C>G |
p.Pro1009Arg |
Missense |
25/66 |
- |
1 |
15-48782118-G-C |
c.3012C>G |
p.Tyr1004* |
Nonsense |
25/66 |
- |
1 |
15-48782143-C-T |
c.2987G>A |
p.Cys996Tyr |
Missense |
25/66 |
- |
1 |
15-48782144-A-G |
c.2986T>C |
p.Cys996Arg |
Missense |
25/66 |
- |
1 |
15-48782150-C-A |
c.2980G>T |
p.Glu994* |
Nonsense |
25/66 |
- |
1 |
15-48782166-C-T |
c.2964G>A |
p.Trp988* |
Nonsense |
25/66 |
- |
1 |
15-48782167-C-T |
c.2963G>A |
p.Trp988* |
Nonsense |
25/66 |
- |
1 |
15-48782174-C-T |
c.2956G>A |
p.Ala986Thr |
Missense |
25/66 |
- |
4 |
15-48782176-C-T |
c.2954G>A |
p.Gly985Glu |
Missense |
25/66 |
- |
1 |
15-48782177-C-T |
c.2953G>A |
p.Gly985Arg |
Missense |
25/66 |
- |
3 |
15-48782180-C-T |
c.2950G>A |
p.Val984Ile |
Missense |
25/66 |
- |
2 |
15-48782203-C-T |
c.2927G>A |
p.Arg976His |
Missense |
25/66 |
- |
1 |
15-48782210-G-A |
c.2920C>T |
p.Arg974Cys |
Missense |
25/66 |
- |
1 |
15-48782227-GT-TG |
c.2902_2903delinsCA |
p.Thr968His |
Missense |
25/66 |
- |
1 |
15-48782234-C-A |
c.2896G>T |
p.Glu966* |
Nonsense |
25/66 |
- |
1 |
15-48782235-C-T |
c.2895G>A |
p.Glu965Glu |
Synonymous |
25/66 |
- |
1 |
15-48782269-C-A |
c.2861G>T |
p.Arg954Leu |
Missense |
25/66 |
- |
1 |
15-48782270-G-A |
c.2860C>T |
p.Arg954Cys |
Missense |
25/66 |
- |
2 |
15-48782563-T-A |
c.2855-288A>T |
- |
IntronicSNV |
- |
24/65 |
1 |
15-48782563-T-C |
c.2855-288A>G |
- |
IntronicSNV |
- |
24/65 |
1 |
15-48784664-A-G |
c.2848T>C |
p.Cys950Arg |
Missense |
24/66 |
- |
1 |
15-48784693-C-A |
c.2819G>T |
p.Gly940Val |
Missense |
24/66 |
- |
1 |
15-48784766-C-T |
c.2746G>A |
p.Val916Met |
Missense |
24/66 |
- |
1 |
15-48784771-C-G |
c.2741G>C |
p.Cys914Ser |
Missense |
24/66 |
- |
1 |
15-48784772-A-G |
c.2740T>C |
p.Cys914Arg |
Missense |
24/66 |
- |
1 |
15-48784772-A-T |
c.2740T>A |
p.Cys914Ser |
Missense |
24/66 |
- |
1 |
15-48786401-C-G |
c.2728G>C |
p.Asp910His |
Missense |
23/66 |
- |
1 |
15-48786401-C-T |
c.2728G>A |
p.Asp910Asn |
Missense |
23/66 |
- |
1 |
15-48786406-C-A |
c.2723G>T |
p.Cys908Phe |
Missense |
23/66 |
- |
1 |
15-48786406-C-T |
c.2723G>A |
p.Cys908Tyr |
Missense |
23/66 |
- |
1 |
15-48786407-A-G |
c.2722T>C |
p.Cys908Arg |
Missense |
23/66 |
- |
1 |
15-48786466-G-A |
c.2678-15C>T |
- |
IntronicSNV |
- |
22/65 |
1 |
15-48786466-G-T |
c.2678-15C>A |
- |
IntronicSNV |
- |
22/65 |
3 |
15-48787329-A-G |
c.2668T>C |
p.Cys890Arg |
Missense |
22/66 |
- |
1 |
15-48787337-C-T |
c.2660G>A |
p.Cys887Tyr |
Missense |
22/66 |
- |
1 |
15-48787348-C-T |
c.2649G>A |
p.Trp883* |
Nonsense |
22/66 |
- |
1 |
15-48787349-C-T |
c.2648G>A |
p.Trp883* |
Nonsense |
22/66 |
- |
1 |
15-48787350-A-G |
c.2647T>C |
p.Trp883Arg |
Missense |
22/66 |
- |
1 |
15-48787350-A-T |
c.2647T>A |
p.Trp883Arg |
Missense |
22/66 |
- |
1 |
15-48787352-G-A |
c.2645C>T |
p.Ala882Val |
Missense |
22/66 |
- |
3 |
15-48787358-C-T |
c.2639G>A |
p.Gly880Asp |
Missense |
22/66 |
- |
1 |
15-48787359-C-T |
c.2638G>A |
p.Gly880Ser |
Missense |
22/66 |
- |
1 |
15-48787370-C-A |
c.2627G>T |
p.Cys876Phe |
Missense |
22/66 |
- |
1 |
15-48787371-A-G |
c.2626T>C |
p.Cys876Arg |
Missense |
22/66 |
- |
1 |
15-48787382-T-C |
c.2615A>G |
p.Lys872Arg |
Missense |
22/66 |
- |
1 |
15-48787384-T-G |
c.2613A>C |
p.Leu871Phe |
Missense |
22/66 |
- |
1 |
15-48787413-A-G |
c.2584T>C |
p.Cys862Arg |
Missense |
22/66 |
- |
1 |
15-48787416-G-A |
c.2581C>T |
p.Arg861* |
Nonsense |
22/66 |
- |
5 |
15-48787459-T-C |
c.2540-2A>G |
- |
IntronicSNV |
- |
21/65 |
1 |
15-48787710-C-T |
c.2495G>A |
p.Cys832Tyr |
Missense |
21/66 |
- |
1 |
15-48787732-G-C |
c.2473C>G |
p.Pro825Ala |
Missense |
21/66 |
- |
1 |
15-48787743-C-T |
c.2462G>A |
p.Cys821Tyr |
Missense |
21/66 |
- |
1 |
15-48787758-C-A |
c.2447G>T |
p.Cys816Phe |
Missense |
21/66 |
- |
1 |
15-48787759-A-G |
c.2446T>C |
p.Cys816Arg |
Missense |
21/66 |
- |
1 |
15-48787772-G-C |
c.2433C>G |
p.Cys811Trp |
Missense |
21/66 |
- |
1 |
15-48787773-C-T |
c.2432G>A |
p.Cys811Tyr |
Missense |
21/66 |
- |
1 |
15-48787785-GT-G |
c.2420del |
p.Asp807Alafs*40 |
Frameshift |
21/66 |
- |
1 |
15-48788303-A-G |
c.2413T>C |
p.Cys805Arg |
Missense |
20/66 |
- |
1 |
15-48788311-AG-TA |
c.2404_2405delinsTA |
p.Leu802* |
Nonsense |
20/66 |
- |
1 |
15-48788341-C-A |
c.2375G>T |
p.Cys792Phe |
Missense |
20/66 |
- |
1 |
15-48788348-A-T |
c.2368T>A |
p.Cys790Ser |
Missense |
20/66 |
- |
3 |
15-48788369-T-G |
c.2347A>C |
p.Asn783His |
Missense |
20/66 |
- |
1 |
15-48788390-A-C |
c.2326T>G |
p.Cys776Gly |
Missense |
20/66 |
- |
1 |
15-48788410-C-T |
c.2306G>A |
p.Cys769Tyr |
Missense |
20/66 |
- |
1 |
15-48788414-C-T |
c.2302G>A |
p.Glu768Lys |
Missense |
20/66 |
- |
1 |
15-48789487-C-G |
c.2269G>C |
p.Asp757His |
Missense |
19/66 |
- |
1 |
15-48789495-T-C |
c.2261A>G |
p.Tyr754Cys |
Missense |
19/66 |
- |
3 |
15-48789496-A-G |
c.2260T>C |
p.Tyr754His |
Missense |
19/66 |
- |
1 |
15-48789508-A-C |
c.2248T>G |
p.Cys750Gly |
Missense |
19/66 |
- |
3 |
15-48789513-C-T |
c.2243G>A |
p.Cys748Tyr |
Missense |
19/66 |
- |
1 |
15-48789525-C-T |
c.2231G>A |
p.Gly744Glu |
Missense |
19/66 |
- |
2 |
15-48789537-TT-T |
c.2222del |
p.Asn741Thrfs*31 |
Frameshift |
19/66 |
- |
1 |
15-48789540-C-T |
c.2216G>A |
p.Cys739Tyr |
Missense |
19/66 |
- |
1 |
15-48789541-A-G |
c.2215T>C |
p.Cys739Arg |
Missense |
19/66 |
- |
1 |
15-48789549-T-C |
c.2207A>G |
p.Asn736Ser |
Missense |
19/66 |
- |
1 |
15-48789565-GG-G |
c.2192del |
p.Pro731Leufs*41 |
Frameshift |
19/66 |
- |
1 |
15-48789576-C-T |
c.2180G>A |
p.Cys727Tyr |
Missense |
19/66 |
- |
1 |
15-48789579-T-C |
c.2177A>G |
p.Glu726Gly |
Missense |
19/66 |
- |
1 |
15-48789588-T-A |
c.2168A>T |
p.Asp723Val |
Missense |
19/66 |
- |
1 |
15-48789588-T-G |
c.2168A>C |
p.Asp723Ala |
Missense |
19/66 |
- |
1 |
15-48789589-C-A |
c.2168-1G>T |
- |
IntronicSNV |
- |
18/65 |
1 |
15-48789634-T-C |
c.2168-46A>G |
- |
IntronicSNV |
- |
18/65 |
2 |
15-48791199-AT-TA |
c.2149_2150delinsTA |
p.Met717* |
Nonsense |
18/66 |
- |
2 |
15-48791217-C-T |
c.2132G>A |
p.Cys711Tyr |
Missense |
18/66 |
- |
1 |
15-48791223-G-T |
c.2126C>A |
p.Ala709Glu |
Missense |
18/66 |
- |
1 |
15-48791224-C-T |
c.2125G>A |
p.Ala709Thr |
Missense |
18/66 |
- |
1 |
15-48795984-C-T |
c.2113G>A |
p.Ala705Thr |
Missense |
17/66 |
- |
1 |
15-48795990-T-G |
c.2107A>C |
p.Asn703His |
Missense |
17/66 |
- |
2 |
15-48796004-G-A |
c.2093C>T |
p.Pro698Leu |
Missense |
17/66 |
- |
1 |
15-48796007-T-C |
c.2090A>G |
p.Gln697Arg |
Missense |
17/66 |
- |
1 |
15-48796009-G-T |
c.2088C>A |
p.Cys696* |
Nonsense |
17/66 |
- |
1 |
15-48796041-C-T |
c.2056G>A |
p.Ala686Thr |
Missense |
17/66 |
- |
2 |
15-48796042-G-C |
c.2055C>G |
p.Cys685Trp |
Missense |
17/66 |
- |
1 |
15-48796048-G-T |
c.2049C>A |
p.Cys683* |
Nonsense |
17/66 |
- |
2 |
15-48796102-G-T |
c.1995C>A |
p.Tyr665* |
Nonsense |
17/66 |
- |
1 |
15-48796116-A-G |
c.1981T>C |
p.Cys661Arg |
Missense |
17/66 |
- |
1 |
15-48797124-T-A |
c.1960+98A>T |
- |
IntronicSNV |
- |
16/65 |
1 |
15-48797146-C-T |
c.1960+76G>A |
- |
IntronicSNV |
- |
16/65 |
3 |
15-48797222-CC-C |
c.1960+1del |
- |
IntronicDeletion |
16/66 |
- |
1 |
15-48797227-C-A |
c.1955G>T |
p.Cys652Phe |
Missense |
16/66 |
- |
1 |
15-48797227-C-T |
c.1955G>A |
p.Cys652Tyr |
Missense |
16/66 |
- |
1 |
15-48797234-G-A |
c.1948C>T |
p.Arg650Cys |
Missense |
16/66 |
- |
1 |
15-48797266-C-T |
c.1916G>A |
p.Cys639Tyr |
Missense |
16/66 |
- |
3 |
15-48797272-C-T |
c.1910G>A |
p.Cys637Tyr |
Missense |
16/66 |
- |
1 |
15-48797273-A-G |
c.1909T>C |
p.Cys637Arg |
Missense |
16/66 |
- |
1 |
15-48797274-T-A |
c.1908A>T |
p.Arg636Ser |
Missense |
16/66 |
- |
1 |
15-48797274-T-G |
c.1908A>C |
p.Arg636Ser |
Missense |
16/66 |
- |
1 |
15-48797275-C-A |
c.1907G>T |
p.Arg636Ile |
Missense |
16/66 |
- |
1 |
15-48797276-T-C |
c.1906A>G |
p.Arg636Gly |
Missense |
16/66 |
- |
2 |
15-48797278-T-C |
c.1904A>G |
p.Tyr635Cys |
Missense |
16/66 |
- |
1 |
15-48797282-A-G |
c.1900T>C |
p.Ser634Pro |
Missense |
16/66 |
- |
1 |
15-48797298-G-T |
c.1884C>A |
p.Cys628* |
Nonsense |
16/66 |
- |
3 |
15-48797303-G-A |
c.1879C>T |
p.Arg627Cys |
Missense |
16/66 |
- |
5 |
15-48797307-A-G |
c.1875T>C |
p.Asn625Asn |
Synonymous |
16/66 |
- |
5 |
15-48797307-A-T |
c.1875T>A |
p.Asn625Lys |
Missense |
16/66 |
- |
1 |
15-48797314-C-G |
c.1868G>C |
p.Cys623Ser |
Missense |
16/66 |
- |
1 |
15-48797336-C-G |
c.1846G>C |
p.Glu616Gln |
Missense |
16/66 |
- |
1 |
15-48797339-TT-T |
c.1844del |
p.Asn615Thrfs*10 |
Frameshift |
16/66 |
- |
1 |
15-48798910-A-G |
c.1838-1566T>C |
- |
IntronicSNV |
- |
15/65 |
1 |
15-48800822-G-T |
c.1794C>A |
p.Cys598* |
Nonsense |
15/66 |
- |
1 |
15-48800830-A-C |
c.1786T>G |
p.Cys596Gly |
Missense |
15/66 |
- |
1 |
15-48800830-A-G |
c.1786T>C |
p.Cys596Arg |
Missense |
15/66 |
- |
1 |
15-48800856-C-T |
c.1760G>A |
p.Cys587Tyr |
Missense |
15/66 |
- |
1 |
15-48800857-A-G |
c.1759T>C |
p.Cys587Arg |
Missense |
15/66 |
- |
1 |
15-48800870-GG-G |
c.1747del |
p.Asn584Metfs*41 |
Frameshift |
15/66 |
- |
1 |
15-48800883-AT-TA |
c.1732_1733delinsTA |
p.Ile578* |
Nonsense |
15/66 |
- |
1 |
15-48801935-C-T |
c.1714+306G>A |
- |
IntronicSNV |
- |
14/65 |
1 |
15-48802245-CACAGTTCTTCCCATC-C |
c.1698_1712del |
p.Asp566_Cys570del |
InFrameDeletion |
14/66 |
- |
1 |
15-48802246-C-G |
c.1709G>C |
p.Cys570Ser |
Missense |
14/66 |
- |
1 |
15-48802246-C-T |
c.1709G>A |
p.Cys570Tyr |
Missense |
14/66 |
- |
2 |
15-48802247-A-C |
c.1708T>G |
p.Cys570Gly |
Missense |
14/66 |
- |
1 |
15-48802247-A-G |
c.1708T>C |
p.Cys570Arg |
Missense |
14/66 |
- |
2 |
15-48802262-G-A |
c.1693C>T |
p.Arg565* |
Nonsense |
14/66 |
- |
1 |
15-48802312-T-A |
c.1643A>T |
p.Asn548Ile |
Missense |
14/66 |
- |
2 |
15-48802313-TT-T |
c.1643del |
p.Asn548Thrfs*31 |
Frameshift |
14/66 |
- |
1 |
15-48802322-G-A |
c.1633C>T |
p.Arg545Cys |
Missense |
14/66 |
- |
5 |
15-48802330-T-C |
c.1625A>G |
p.Asn542Ser |
Missense |
14/66 |
- |
1 |
15-48802333-C-A |
c.1622G>T |
p.Cys541Phe |
Missense |
14/66 |
- |
1 |
15-48802354-C-T |
c.1601G>A |
p.Cys534Tyr |
Missense |
14/66 |
- |
1 |
15-48802359-ATC-TAA |
c.1594_1596delinsTTA |
p.Asp532Leu |
Nonsense |
14/66 |
- |
1 |
15-48802366-T-C |
c.1589A>G |
p.Asp530Gly |
Missense |
14/66 |
- |
1 |
15-48802367-C-T |
c.1589-1G>A |
- |
IntronicSNV |
- |
13/65 |
1 |
15-48802375-A-T |
c.1589-9T>A |
- |
IntronicSNV |
- |
13/65 |
1 |
15-48805748-C-T |
c.1586G>A |
p.Arg529Gln |
Missense |
13/66 |
- |
1 |
15-48805749-G-A |
c.1585C>T |
p.Arg529* |
Nonsense |
13/66 |
- |
5 |
15-48805751-C-A |
c.1583G>T |
p.Cys528Phe |
Missense |
13/66 |
- |
1 |
15-48805751-CA-CC |
c.1582delinsG |
p.Cys528Gly |
Missense |
13/66 |
- |
1 |
15-48805763-G-T |
c.1571C>A |
p.Thr524Lys |
Missense |
13/66 |
- |
1 |
15-48805782-C-CC |
c.1553dup |
p.Tyr519Ilefs*14 |
Frameshift |
13/66 |
- |
1 |
15-48805838-C-G |
c.1496G>C |
p.Cys499Ser |
Missense |
13/66 |
- |
2 |
15-48805843-G-C |
c.1491C>G |
p.Asn497Lys |
Missense |
13/66 |
- |
1 |
15-48805843-G-T |
c.1491C>A |
p.Asn497Lys |
Missense |
13/66 |
- |
1 |
15-48805853-C-T |
c.1481G>A |
p.Cys494Tyr |
Missense |
13/66 |
- |
2 |
15-48807579-C-T |
c.1468+5G>A |
- |
IntronicSNV |
- |
12/65 |
1 |
15-48807584-C-A |
c.1468G>T |
p.Asp490Tyr |
Missense |
12/66 |
- |
1 |
15-48807596-C-A |
c.1456G>T |
p.Gly486Trp |
Missense |
12/66 |
- |
2 |
15-48807599-G-A |
c.1453C>T |
p.Arg485Cys |
Missense |
12/66 |
- |
2 |
15-48807625-C-T |
c.1427G>A |
p.Cys476Tyr |
Missense |
12/66 |
- |
1 |
15-48807630-A-C |
c.1422T>G |
p.Cys474Trp |
Missense |
12/66 |
- |
1 |
15-48807636-G-T |
c.1416C>A |
p.Tyr472* |
Nonsense |
12/66 |
- |
1 |
15-48807637-C-T |
c.1415G>A |
p.Tyr472Tyr |
Missense |
12/66 |
- |
2 |
15-48807638-A-G |
c.1414T>C |
p.Tyr472His |
Missense |
12/66 |
- |
1 |
15-48807678-A-T |
c.1374T>A |
p.Tyr458* |
Nonsense |
12/66 |
- |
1 |
15-48807707-C-T |
c.1345G>A |
p.Val449Ile |
Missense |
12/66 |
- |
1 |
15-48807713-AC-A |
c.1339del |
p.Val447* |
Frameshift |
12/66 |
- |
1 |
15-48808405-A-C |
c.1302T>G |
p.Tyr434* |
Nonsense |
11/66 |
- |
2 |
15-48808405-A-T |
c.1302T>A |
p.Tyr434* |
Nonsense |
11/66 |
- |
2 |
15-48808421-C-G |
c.1286G>C |
p.Arg429Pro |
Missense |
11/66 |
- |
1 |
15-48808422-G-A |
c.1285C>T |
p.Arg429* |
Nonsense |
11/66 |
- |
2 |
15-48808532-G-C |
c.1175C>G |
p.Pro392Arg |
Missense |
11/66 |
- |
1 |
15-48808538-G-A |
c.1169C>T |
p.Ser390Phe |
Missense |
11/66 |
- |
1 |
15-48808547-T-C |
c.1160A>G |
p.Lys387Arg |
Missense |
11/66 |
- |
1 |
15-48808561-T-C |
c.1148-2A>G |
- |
IntronicSNV |
- |
10/65 |
1 |
15-48808561-T-G |
c.1148-2A>C |
- |
IntronicSNV |
- |
10/65 |
1 |
15-48812020-A-G |
c.1147+836T>C |
- |
IntronicSNV |
- |
10/65 |
2 |
15-48812020-A-T |
c.1147+836T>A |
- |
IntronicSNV |
- |
10/65 |
2 |
15-48812858-GT-GG |
c.1144delinsC |
p.Thr382Pro |
Missense |
10/66 |
- |
1 |
15-48812874-A-T |
c.1129T>A |
p.Cys377Ser |
Missense |
10/66 |
- |
1 |
15-48812893-G-GC |
c.1109_1110insG |
p.Thr371Hisfs*5 |
Frameshift |
10/66 |
- |
1 |
15-48812905-C-A |
c.1098G>T |
p.Trp366Cys |
Missense |
10/66 |
- |
1 |
15-48812905-C-G |
c.1098G>C |
p.Trp366Cys |
Missense |
10/66 |
- |
1 |
15-48812913-G-A |
c.1090C>T |
p.Arg364* |
Nonsense |
10/66 |
- |
3 |
15-48812976-C-T |
c.1027G>A |
p.Gly343Arg |
Missense |
10/66 |
- |
5 |
15-48818329-A-AA |
c.986dup |
p.Asp330Argfs*18 |
Frameshift |
9/66 |
- |
1 |
15-48818329-A-G |
c.986T>C |
p.Ile329Thr |
Missense |
9/66 |
- |
2 |
15-48818329-AT-TA |
c.985_986delinsTA |
p.Ile329* |
Nonsense |
9/66 |
- |
1 |
15-48818402-T-C |
c.913A>G |
p.Thr305Ala |
Missense |
9/66 |
- |
1 |
15-48818404-C-A |
c.911G>T |
p.Cys304Phe |
Missense |
9/66 |
- |
1 |
15-48818418-A-C |
c.897T>G |
p.Cys299Trp |
Missense |
9/66 |
- |
1 |
15-48818452-T-C |
c.863A>G |
p.Asp288Gly |
Missense |
9/66 |
- |
1 |
15-48819502-G-A |
c.863-1050C>T |
- |
IntronicSNV |
- |
8/65 |
2 |
15-48822780-G-T |
c.862+3497C>A |
- |
IntronicSNV |
- |
8/65 |
1 |
15-48826279-T-C |
c.860A>G |
p.Glu287Gly |
Missense |
8/66 |
- |
1 |
15-48826300-T-G |
c.839A>C |
p.Asn280Thr |
Missense |
8/66 |
- |
2 |
15-48826326-G-C |
c.813C>G |
p.Cys271Trp |
Missense |
8/66 |
- |
1 |
15-48826326-G-T |
c.813C>A |
p.Cys271* |
Nonsense |
8/66 |
- |
1 |
15-48826347-ATT-TAA |
c.790_792delinsTTA |
p.Asn264Leu |
Nonsense |
8/66 |
- |
1 |
15-48826394-C-A |
c.745G>T |
p.Glu249* |
Nonsense |
8/66 |
- |
1 |
15-48826427-G-A |
c.737-25C>T |
- |
IntronicSNV |
- |
7/65 |
1 |
15-48826455-T-C |
c.737-53A>G |
- |
IntronicSNV |
- |
7/65 |
1 |
15-48829817-C-T |
c.727G>A |
p.Ala243Thr |
Missense |
7/66 |
- |
1 |
15-48829825-C-T |
c.719G>A |
p.Arg240His |
Missense |
7/66 |
- |
1 |
15-48829826-G-A |
c.718C>T |
p.Arg240Cys |
Missense |
7/66 |
- |
5 |
15-48829846-C-T |
c.698G>A |
p.Arg233His |
Missense |
7/66 |
- |
2 |
15-48829848-GCG-GAG |
c.695delinsT |
p.Arg232Leu |
Missense |
7/66 |
- |
1 |
15-48829867-G-A |
c.677C>T |
p.Ala226Val |
Missense |
7/66 |
- |
2 |
15-48829882-C-CC |
c.662dup |
p.Cys221Trpfs*2 |
Frameshift |
7/66 |
- |
1 |
15-48829895-A-C |
c.649T>G |
p.Trp217Gly |
Missense |
7/66 |
- |
1 |
15-48829901-G-A |
c.643C>T |
p.Arg215* |
Nonsense |
7/66 |
- |
2 |
15-48829904-C-T |
c.640G>A |
p.Gly214Ser |
Missense |
7/66 |
- |
7 |
15-48829915-C-T |
c.629G>A |
p.Cys210Tyr |
Missense |
7/66 |
- |
1 |
15-48829918-C-T |
c.626G>A |
p.Cys209Tyr |
Missense |
7/66 |
- |
1 |
15-48829934-A-T |
c.610T>A |
p.Cys204Ser |
Missense |
7/66 |
- |
2 |
15-48829999-CT-GA |
c.544_545delinsTC |
p.Arg182Ser |
Missense |
7/66 |
- |
1 |
15-48830135-C-G |
c.539-130G>C |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48838359-C-T |
c.539-8354G>A |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48840835-C-T |
c.539-10830G>A |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48847733-T-A |
c.539-17728A>T |
- |
IntronicSNV |
- |
6/65 |
3 |
15-48847733-T-C |
c.539-17728A>G |
- |
IntronicSNV |
- |
6/65 |
3 |
15-48850657-C-G |
c.539-20652G>C |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48858921-C-T |
c.539-28916G>A |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48861287-A-C |
c.538+27193T>G |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48861287-A-G |
c.538+27193T>C |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48862043-G-A |
c.538+26437C>T |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48864367-A-G |
c.538+24113T>C |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48864477-T-C |
c.538+24003A>G |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48864797-C-G |
c.538+23683G>C |
- |
IntronicSNV |
- |
6/65 |
2 |
15-48864797-C-T |
c.538+23683G>A |
- |
IntronicSNV |
- |
6/65 |
2 |
15-48864877-T-C |
c.538+23603A>G |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48873615-G-A |
c.538+14865C>T |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48873615-G-C |
c.538+14865C>G |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48883158-C-A |
c.538+5322G>T |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48884829-A-C |
c.538+3651T>G |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48887265-C-T |
c.538+1215G>A |
- |
IntronicSNV |
- |
6/65 |
1 |
15-48888489-A-G |
c.529T>C |
p.Cys177Arg |
Missense |
6/66 |
- |
1 |
15-48888492-G-A |
c.526C>T |
p.Gln176* |
Nonsense |
6/66 |
- |
1 |
15-48888500-G-T |
c.518C>A |
p.Thr173Asn |
Missense |
6/66 |
- |
1 |
15-48888508-G-A |
c.510C>T |
p.Tyr170Tyr |
Synonymous |
6/66 |
- |
1 |
15-48888515-CA-AC |
c.502_503delinsGT |
p.Cys168Val |
Missense |
6/66 |
- |
1 |
15-48888525-G-C |
c.493C>G |
p.Arg165Gly |
Missense |
6/66 |
- |
1 |
15-48888527-T-C |
c.491A>G |
p.Asn164Ser |
Missense |
6/66 |
- |
4 |
15-48888542-CT-GC |
c.475_476delinsGC |
p.Arg159Ala |
Missense |
6/66 |
- |
1 |
15-48891004-ATACAGTTTGGCTGTGTCACCACCCAAATCTCATCTTGAATTCTCATATGTTGTGGGAGG-A |
c.442+1274_442+1332del |
- |
Unclassified |
- |
5/65 |
1 |
15-48891965-C-T |
c.442+371G>A |
- |
IntronicSNV |
- |
5/65 |
2 |
15-48892336-G-A |
c.442C>T |
p.Pro148Ser |
Missense |
5/66 |
- |
2 |
15-48892339-G-A |
c.439C>T |
p.Gln147* |
Nonsense |
5/66 |
- |
1 |
15-48892364-TTT-GAC |
c.412_414delinsGTC |
p.Lys138Val |
Missense |
5/66 |
- |
1 |
15-48892392-C-T |
c.386G>A |
p.Cys129Tyr |
Missense |
5/66 |
- |
1 |
15-48892392-C-G |
c.386G>C |
p.Cys129Ser |
Missense |
5/66 |
- |
1 |
15-48892393-A-T |
c.385T>A |
p.Cys129Ser |
Missense |
5/66 |
- |
1 |
15-48892394-GCT-TGA |
c.382_384delinsTCA |
p.Ser128Ser |
Nonsense |
5/66 |
- |
1 |
15-48892400-TCC-AGC |
c.377_378delinsCT |
p.Gly126Ala |
Missense |
5/66 |
- |
1 |
15-48892414-G-A |
c.364C>T |
p.Arg122Cys |
Missense |
5/66 |
- |
3 |
15-48894200-A-T |
c.347-1769T>A |
- |
IntronicSNV |
- |
4/65 |
1 |
15-48897282-C-T |
c.347-4851G>A |
- |
IntronicSNV |
- |
4/65 |
1 |
15-48900586-T-C |
c.346+2339A>G |
- |
IntronicSNV |
- |
4/65 |
6 |
15-48902952-T-A |
c.319A>T |
p.Ile107Leu |
Missense |
4/66 |
- |
2 |
15-48902952-T-G |
c.319A>C |
p.Ile107Leu |
Missense |
4/66 |
- |
2 |
15-48902965-G-GG |
c.308dup |
p.Ser104Ilefs*25 |
Frameshift |
4/66 |
- |
1 |
15-48902966-CA-AC |
c.304_305delinsGT |
p.Cys102Val |
Missense |
4/66 |
- |
1 |
15-48902966-C-T |
c.305G>A |
p.Cys102Tyr |
Missense |
4/66 |
- |
1 |
15-48902968-A-G |
c.303T>C |
p.Thr101Thr |
Synonymous |
4/66 |
- |
1 |
15-48902987-G-C |
c.284C>G |
p.Ser95Trp |
Missense |
4/66 |
- |
1 |
15-48902987-G-T |
c.284C>A |
p.Ser95* |
Nonsense |
4/66 |
- |
1 |
15-48902999-T-G |
c.272A>C |
p.Asp91Ala |
Missense |
4/66 |
- |
1 |
15-48903003-C-G |
c.268G>C |
p.Gly90Arg |
Missense |
4/66 |
- |
1 |
15-48903003-C-T |
c.268G>A |
p.Gly90Arg |
Missense |
4/66 |
- |
1 |
15-48903017-C-A |
c.254G>T |
p.Cys85Phe |
Missense |
4/66 |
- |
1 |
15-48903017-C-T |
c.254G>A |
p.Cys85Tyr |
Missense |
4/66 |
- |
1 |
15-48903040-G-C |
c.248-17C>G |
- |
IntronicSNV |
- |
3/65 |
1 |
15-48903126-A-G |
c.248-103T>C |
- |
IntronicSNV |
- |
3/65 |
1 |
15-48905207-G-A |
c.247C>T |
p.Pro83Ser |
Missense |
3/66 |
- |
1 |
15-48905218-T-A |
c.236A>T |
p.Gln79Leu |
Missense |
3/66 |
- |
1 |
15-48905219-G-A |
c.235C>T |
p.Gln79* |
Nonsense |
3/66 |
- |
1 |
15-48905233-A-T |
c.221T>A |
p.Leu74* |
Nonsense |
3/66 |
- |
1 |
15-48905241-C-A |
c.213G>T |
p.Trp71Cys |
Missense |
3/66 |
- |
1 |
15-48905241-C-G |
c.213G>C |
p.Trp71Cys |
Missense |
3/66 |
- |
1 |
15-48905243-A-G |
c.211T>C |
p.Trp71Arg |
Missense |
3/66 |
- |
1 |
15-48905243-A-T |
c.211T>A |
p.Trp71Arg |
Missense |
3/66 |
- |
1 |
15-48905245-C-A |
c.209G>T |
p.Gly70Val |
Missense |
3/66 |
- |
1 |
15-48905266-T-C |
c.188A>G |
p.Tyr63Cys |
Missense |
3/66 |
- |
1 |
15-48905269-C-T |
c.185G>A |
p.Arg62His |
Missense |
3/66 |
- |
3 |
15-48905270-G-A |
c.184C>T |
p.Arg62Cys |
Missense |
3/66 |
- |
3 |
15-48905274-TC-AC |
c.180delinsT |
p.Gly60Gly |
Missense |
3/66 |
- |
1 |
15-48905279-A-G |
c.175T>C |
p.Cys59Arg |
Missense |
3/66 |
- |
1 |
15-48905285-T-C |
c.169A>G |
p.Asn57Asp |
Missense |
3/66 |
- |
1 |
15-48905816-T-C |
c.165-527A>G |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48910240-A-G |
c.165-4951T>C |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48912623-C-T |
c.165-7334G>A |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48914775-T-C |
c.165-9486A>G |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48914926-A-G |
c.165-9637T>C |
- |
IntronicSNV |
- |
2/65 |
8 |
15-48915884-T-C |
c.165-10595A>G |
- |
IntronicSNV |
- |
2/65 |
9 |
15-48918821-G-C |
c.165-13532C>G |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48922360-C-T |
c.164+14443G>A |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48925115-G-C |
c.164+11688C>G |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48928052-A-C |
c.164+8751T>G |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48931451-T-A |
c.164+5352A>T |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48931451-T-C |
c.164+5352A>G |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48934628-C-A |
c.164+2175G>T |
- |
IntronicSNV |
- |
2/65 |
1 |
15-48936822-C-T |
c.145G>A |
p.Gly49Arg |
Missense |
2/66 |
- |
1 |
15-48936828-C-T |
c.139G>A |
p.Gly47Ser |
Missense |
2/66 |
- |
1 |
15-48936842-G-C |
c.125C>G |
p.Ala42Gly |
Missense |
2/66 |
- |
1 |
15-48936867-C-A |
c.100G>T |
p.Val34Leu |
Missense |
2/66 |
- |
2 |
15-48936867-C-G |
c.100G>C |
p.Val34Leu |
Missense |
2/66 |
- |
2 |
15-48936869-T-G |
c.98A>C |
p.Asn33Thr |
Missense |
2/66 |
- |
1 |
15-48936884-T-C |
c.83A>G |
p.Asn28Ser |
Missense |
2/66 |
- |
1 |
15-48936888-C-T |
c.79G>A |
p.Ala27Thr |
Missense |
2/66 |
- |
1 |
15-48936894-C-T |
c.73G>A |
p.Ala25Thr |
Missense |
2/66 |
- |
1 |
15-48936908-T-C |
c.59A>G |
p.Tyr20Cys |
Missense |
2/66 |
- |
3 |
15-48936935-A-C |
c.32T>G |
p.Leu11Arg |
Missense |
2/66 |
- |
1 |
15-48936960-G-A |
c.7C>T |
p.Arg3* |
Nonsense |
2/66 |
- |
1 |
15-48936964-C-T |
c.3G>A |
p.Met1? |
Missense |
2/66 |
- |
1 |