FBN1 fibrillin 1

Annotation transcript: NM_000138.5

1472 unique variant annotations were identified in 686 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
15-48701029-C-T c.*2158G>A - 3-UTRSNV 66/66 - 2
15-48701228-C-T c.*1959G>A - 3-UTRSNV 66/66 - 2
15-48701612-A-C c.*1575T>G - 3-UTRSNV 66/66 - 1
15-48702873-G-A c.*314C>T - 3-UTRSNV 66/66 - 3
15-48703201-C-T c.8602G>A p.V2868I Missense 66/66 - 1
15-48703204-G-A c.8599C>T p.Q2867* Nonsense 66/66 - 1
15-48703206-A-T c.8597T>A p.I2866N Missense 66/66 - 1
15-48703217-C-T c.8586G>A p.L2862= Synonymous 66/66 - 1
15-48703246-A-AG c.8556dup p.Y2853Lfs*5 Frameshift 66/66 - 1
15-48703256-A-C c.8547T>G p.Y2849* Nonsense 66/66 - 3
15-48703258-A-AT c.8544dup p.Y2849Ifs*2 Frameshift 66/66 - 1
15-48703267-C-A c.8536G>T p.E2846* Nonsense 66/66 - 1
15-48703273-GGTTAA-G c.8525_8529del p.L2842Pfs*7 Frameshift 66/66 - 1
15-48703284-T-C c.8519A>G p.K2840R Missense 66/66 - 1
15-48703298-T-TG c.8504dup p.L2836Tfs*3 Frameshift 66/66 - 1
15-48703309-T-C c.8494A>G p.S2832G Missense 66/66 - 2
15-48703314-T-C c.8489A>G p.Q2830R Missense 66/66 - 1
15-48703322-A-C c.8481T>G p.Y2827* Nonsense 66/66 - 1
15-48703448-TGT-ATA c.8353_8355delinsTAT p.T2785Y Missense 66/66 - 1
15-48703450-T-TA c.8352dup p.T2785Yfs*16 Frameshift 66/66 - 1
15-48703464-A-G c.8339T>C p.L2780P Missense 66/66 - 1
15-48703477-G-A c.8326C>T p.R2776* Nonsense 66/66 - 1
15-48703495-G-A c.8308C>T p.H2770Y Missense 66/66 - 1
15-48703503-T-C c.8300A>G p.N2767S Missense 66/66 - 1
15-48703510-C-CA c.8292dup p.A2765Cfs*9 Frameshift 66/66 - 1
15-48703511-AAAGATGGCTGTCTTCTC-A c.8275_8291del p.E2759Cfs*9 Frameshift 66/66 - 1
15-48703535-C-T c.8268G>A p.W2756* Nonsense 66/66 - 1
15-48703536-C-T c.8267G>A p.W2756* Nonsense 66/66 - 1
15-48703551-AC-TA c.8251_8252delinsTA p.V2751* 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 3
15-48704765-C-T c.8226+1G>A - IntronicSNV - 65/65 3
15-48704767-T-C c.8225A>G p.E2742G Missense 65/66 - 1
15-48704770-A-G c.8222T>C p.I2741T Missense 65/66 - 3
15-48704779-G-A c.8213C>T p.A2738V Missense 65/66 - 1
15-48704785-G-GT c.8206dup p.T2736Nfs*2 Frameshift 65/66 - 1
15-48704809-C-G c.8183G>C p.R2728T Missense 65/66 - 1
15-48704809-CTGCCCCGT-C c.8175_8182del p.R2726Efs*9 Frameshift 65/66 - 4
15-48704816-G-A c.8176C>T p.R2726W Missense 65/66 - 15
15-48704816-GTTTGGGGTAGCCATTGATCT-G c.8156_8175del p.K2719Tfs*12 Frameshift 65/66 - 2
15-48704836-CTT-C c.8155_8156del p.K2719Dfs*18 Frameshift 65/66 - 3
15-48704843-C-T c.8149G>A p.E2717K Missense 65/66 - 4
15-48704844-G-GT c.8147dup p.Y2716* Nonsense 65/66 - 1
15-48704869-T-C c.8123A>G p.N2708S Missense 65/66 - 1
15-48704871-G-T c.8121C>A p.D2707E Missense 65/66 - 1
15-48704911-C-T c.8081G>A p.R2694Q Missense 65/66 - 2
15-48704912-G-A c.8080C>T p.R2694* Nonsense 65/66 - 2
15-48704923-A-C c.8069T>G p.M2690R Missense 65/66 - 3
15-48704931-AAC-A c.8059_8060del p.V2687Ffs*17 Frameshift 65/66 - 1
15-48704935-C-A c.8057G>T p.C2686F Missense 65/66 - 1
15-48704936-A-G c.8056T>C p.C2686R Missense 65/66 - 1
15-48705206-T-C c.8052-266A>G - IntronicSNV - 64/65 1
15-48706571-A-G c.8051+1162T>C - IntronicSNV - 64/65 2
15-48706571-A-T c.8051+1162T>A - IntronicSNV - 64/65 2
15-48707358-C-A c.8051+375G>T - IntronicSNV - 64/65 1
15-48707739-C-A c.8045G>T p.G2682V Missense 64/66 - 1
15-48707742-AT-TA c.8041_8042delinsTA p.I2681* Nonsense 64/66 - 2
15-48707746-G-A c.8038C>T p.R2680C Missense 64/66 - 1
15-48707747-G-C c.8037C>G p.F2679L Missense 64/66 - 1
15-48707750-G-T c.8034C>A p.Y2678* Nonsense 64/66 - 2
15-48707796-C-T c.7988G>A p.C2663Y Missense 64/66 - 4
15-48707796-C-G c.7988G>C p.C2663S Missense 64/66 - 1
15-48707797-A-T c.7987T>A p.C2663S Missense 64/66 - 1
15-48707807-G-T c.7977C>A p.C2659* Nonsense 64/66 - 2
15-48707828-A-T c.7956T>A p.C2652* Nonsense 64/66 - 1
15-48707829-C-T c.7955G>A p.C2652Y Missense 64/66 - 1
15-48707830-A-G c.7954T>C p.C2652R Missense 64/66 - 1
15-48707847-C-T c.7937G>A p.C2646Y Missense 64/66 - 1
15-48707863-G-A c.7921C>T p.Q2641* Nonsense 64/66 - 1
15-48707868-T-C c.7916A>G p.Y2639C Missense 64/66 - 3
15-48707913-T-C c.7871A>G p.N2624S Missense 64/66 - 2
15-48707913-T-G c.7871A>C p.N2624T Missense 64/66 - 1
15-48707914-T-TG c.7869dup p.N2624Qfs*17 Frameshift 64/66 - 1
15-48707915-G-GT c.7868dup p.H2623Qfs*18 Frameshift 64/66 - 1
15-48707919-C-G c.7865G>C p.C2622S Missense 64/66 - 1
15-48707926-C-G c.7858G>C p.A2620P Missense 64/66 - 1
15-48707932-C-G c.7852G>C p.G2618R Missense 64/66 - 1
15-48707932-C-T c.7852G>A p.G2618R Missense 64/66 - 3
15-48707938-T-C c.7846A>G p.I2616V Missense 64/66 - 1
15-48707956-C-T c.7828G>A p.E2610K Missense 64/66 - 1
15-48707964-T-C c.7820A>G p.D2607G Missense 64/66 - 1
15-48712757-G-T c.7819+127C>A - IntronicSNV - 63/65 1
15-48712876-T-G c.7819+8A>C - IntronicSNV - 63/65 2
15-48712884-C-T c.7819G>A p.D2607N Missense 63/66 - 1
15-48712886-A-T c.7817T>A p.V2606D Missense 63/66 - 1
15-48712902-G-A c.7801C>T p.Q2601* Nonsense 63/66 - 1
15-48712915-G-T c.7788C>A p.Y2596* Nonsense 63/66 - 1
15-48712918-AG-A c.7785del p.Y2596Tfs*86 Frameshift 63/66 - 1
15-48712928-C-T c.7775G>A p.C2592Y Missense 63/66 - 1
15-48712934-C-T c.7769G>A p.C2590Y Missense 63/66 - 1
15-48712938-T-C c.7765A>G p.R2589G Missense 63/66 - 1
15-48712949-A-G c.7754T>C p.I2585T Missense 63/66 - 13
15-48712977-G-A c.7726C>T p.R2576C Missense 63/66 - 2
15-48712990-A-C c.7713T>G p.C2571W Missense 63/66 - 1
15-48712991-C-T c.7712G>A p.C2571Y Missense 63/66 - 2
15-48712992-A-G c.7711T>C p.C2571R Missense 63/66 - 2
15-48713001-C-T c.7702G>A p.V2568M Missense 63/66 - 1
15-48713760-C-A c.7694G>T p.C2565F Missense 62/66 - 1
15-48713790-C-A c.7664G>T p.G2555V Missense 62/66 - 2
15-48713793-C-T c.7661G>A p.R2554Q Missense 62/66 - 2
15-48713794-G-A c.7660C>T p.R2554W Missense 62/66 - 4
15-48713798-G-T c.7656C>A p.C2552* Nonsense 62/66 - 1
15-48713805-C-T c.7649G>A p.C2550Y Missense 62/66 - 1
15-48713811-AAGCTTCC-A c.7636_7642del p.G2546Sfs*134 Frameshift 62/66 - 1
15-48713818-C-T c.7636G>A p.G2546R Missense 62/66 - 1
15-48713821-G-A c.7633C>T p.P2545S Missense 62/66 - 1
15-48713827-T-G c.7627A>C p.N2543H Missense 62/66 - 1
15-48713848-C-T c.7606G>A p.G2536R Missense 62/66 - 5
15-48713849-G-C c.7605C>G p.C2535W Missense 62/66 - 3
15-48713871-C-A c.7583G>T p.C2528F Missense 62/66 - 1
15-48713872-A-G c.7582T>C p.C2528R Missense 62/66 - 1
15-48713996-G-A c.7571-113C>T - IntronicSNV - 61/65 1
15-48713996-G-C c.7571-113C>G - IntronicSNV - 61/65 1
15-48713996-G-T c.7571-113C>A - IntronicSNV - 61/65 2
15-48714150-A-G c.7569T>C p.I2523= Synonymous 61/66 - 1
15-48714152-T-G c.7567A>C p.I2523L Missense 61/66 - 1
15-48714160-G-A c.7559C>T p.T2520M Missense 61/66 - 6
15-48714179-C-T c.7540G>A p.G2514R Missense 61/66 - 1
15-48714188-A-G c.7531T>C p.C2511R Missense 61/66 - 1
15-48714206-C-A c.7513G>T p.G2505C Missense 61/66 - 1
15-48714216-A-AT c.7502_7503insA p.N2502* Nonsense 61/66 - 2
15-48714221-A-G c.7498T>C p.C2500R Missense 61/66 - 2
15-48714229-TG-T c.7489del p.Q2497Sfs*185 Frameshift 61/66 - 1
15-48714232-C-A c.7487G>T p.C2496F Missense 61/66 - 3
15-48714233-A-T c.7486T>A p.C2496S Missense 61/66 - 1
15-48714242-G-A c.7477C>T p.Q2493* Nonsense 61/66 - 1
15-48714247-GT-G c.7471del p.T2491Pfs*191 Frameshift 61/66 - 1
15-48714254-A-G c.7465T>C p.C2489R Missense 61/66 - 2
15-48714265-T-A c.7454A>T p.D2485V Missense 61/66 - 2
15-48714838-T-G c.7454-573A>C - IntronicSNV - 60/65 2
15-48715237-C-G c.7454-972G>C - IntronicSNV - 60/65 1
15-48715448-A-G c.7454-1183T>C - IntronicSNV - 60/65 1
15-48715448-A-T c.7454-1183T>A - IntronicSNV - 60/65 1
15-48716607-C-A c.7453+959G>T - IntronicSNV - 60/65 1
15-48716853-T-C c.7453+713A>G - IntronicSNV - 60/65 2
15-48716853-T-G c.7453+713A>C - IntronicSNV - 60/65 2
15-48717607-G-C c.7412C>G p.P2471R Missense 60/66 - 3
15-48717609-G-A c.7410C>T p.C2470= Synonymous 60/66 - 1
15-48717609-G-C c.7410C>G p.C2470W Missense 60/66 - 1
15-48717610-C-T c.7409G>A p.C2470Y Missense 60/66 - 3
15-48717611-A-C c.7408T>G p.C2470G Missense 60/66 - 1
15-48717640-T-C c.7379A>G p.K2460R Missense 60/66 - 5
15-48717677-A-G c.7342T>C p.C2448R Missense 60/66 - 2
15-48717680-C-T c.7339G>A p.E2447K Missense 60/66 - 3
15-48717688-T-C c.7331A>G p.D2444G Missense 60/66 - 2
15-48717941-C-T c.7325G>A p.C2442Y Missense 59/66 - 2
15-48717986-C-T c.7280G>A p.C2427Y Missense 59/66 - 1
15-48717989-TG-CA c.7276_7277inv p.H2426C Missense 59/66 - 1
15-48717987-AATG-A c.7276_7278del p.H2426del InFrameDeletion 59/66 - 1
15-48718008-T-G c.7258A>C p.N2420H Missense 59/66 - 1
15-48718019-C-T c.7247G>A p.G2416E Missense 59/66 - 1
15-48718025-C-T c.7241G>A p.R2414Q Missense 59/66 - 2
15-48718026-G-A c.7240C>T p.R2414* Nonsense 59/66 - 2
15-48718028-C-T c.7238G>A p.C2413Y Missense 59/66 - 1
15-48718035-C-T c.7231G>A p.D2411N Missense 59/66 - 1
15-48719757-G-C c.7204+7C>G - IntronicSNV - 58/65 1
15-48719758-A-C c.7204+6T>G - IntronicSNV - 58/65 1
15-48719764-C-G c.7204G>C p.D2402H Missense 58/66 - 1
15-48719765-T-C c.7203A>G p.A2401= Synonymous 58/66 - 1
15-48719788-G-A c.7180C>T p.R2394* Nonsense 58/66 - 1
15-48719799-CAG-C c.7167_7168del p.C2390Sfs*15 Frameshift 58/66 - 1
15-48719855-C-T c.7113G>A p.W2371* Nonsense 58/66 - 1
15-48719874-C-T c.7094G>A p.C2365Y Missense 58/66 - 1
15-48719886-G-T c.7082C>A p.S2361* Nonsense 58/66 - 1
15-48719927-ACAT-A c.7039_7041del p.M2347del InFrameDeletion 58/66 - 1
15-48719928-CAT-C c.7039_7040del p.M2347Vfs*19 Frameshift 58/66 - 6
15-48719929-T-C c.7039A>G p.M2347V Missense 58/66 - 1
15-48719936-TAG-AAA c.7030_7032delinsTTT p.L2344F Missense 58/66 - 1
15-48719940-AC-A c.7027del p.V2343Cfs*55 Frameshift 58/66 - 1
15-48719952-CA-GC c.7015_7016delinsGC p.C2339A Missense 58/66 - 1
15-48719952-C-G c.7016G>C p.C2339S Missense 58/66 - 1
15-48719952-C-T c.7016G>A p.C2339Y Missense 58/66 - 1
15-48719953-A-C c.7015T>G p.C2339G Missense 58/66 - 1
15-48719953-A-G c.7015T>C p.C2339R Missense 58/66 - 3
15-48719957-CC-GTG c.7010_7011delinsCAC p.G2337Afs*30 Frameshift 58/66 - 1
15-48719965-G-A c.7003C>T p.R2335W Missense 58/66 - 4
15-48719966-A-G c.7002T>C p.N2334= Synonymous 58/66 - 1
15-48720271-C-A c.6997+272G>T - IntronicSNV - 57/65 1
15-48720271-C-G c.6997+272G>C - IntronicSNV - 57/65 1
15-48720271-C-T c.6997+272G>A - IntronicSNV - 57/65 1
15-48720524-CG-C c.6997+18del - IntronicDeletion - 57/65 1
15-48720526-G-A c.6997+17C>T - IntronicSNV - 57/65 3
15-48720526-G-C c.6997+17C>G - IntronicSNV - 57/65 5
15-48720553-G-C c.6987C>G p.D2329E Missense 57/66 - 3
15-48720553-G-T c.6987C>A p.D2329E Missense 57/66 - 1
15-48720559-GT-G c.6980del p.N2327Tfs*71 Frameshift 57/66 - 1
15-48720571-G-A c.6969C>T p.T2323= Synonymous 57/66 - 1
15-48720572-G-A c.6968C>T p.T2323I Missense 57/66 - 1
15-48720587-C-T c.6953G>A p.C2318Y Missense 57/66 - 2
15-48720588-A-G c.6952T>C p.C2318R Missense 57/66 - 1
15-48720621-A-G c.6919T>C p.C2307R Missense 57/66 - 2
15-48720623-C-T c.6917G>A p.R2306H Missense 57/66 - 2
15-48720624-G-A c.6916C>T p.R2306C Missense 57/66 - 1
15-48720626-C-G c.6914G>C p.G2305A Missense 57/66 - 1
15-48720641-C-T c.6899G>A p.G2300E Missense 57/66 - 1
15-48720648-T-C c.6892A>G p.K2298E Missense 57/66 - 1
15-48720652-C-A c.6888G>T p.Q2296H Missense 57/66 - 2
15-48720652-C-T c.6888G>A p.Q2296= Synonymous 57/66 - 2
15-48720656-C-T c.6884G>A p.C2295Y Missense 57/66 - 1
15-48720661-A-T c.6879T>A p.N2293K Missense 57/66 - 1
15-48722868-C-T c.6871G>A p.D2291N Missense 56/66 - 1
15-48722872-A-T c.6867T>A p.C2289* Nonsense 56/66 - 1
15-48722873-C-A c.6866G>T p.C2289F Missense 56/66 - 1
15-48722873-C-T c.6866G>A p.C2289Y Missense 56/66 - 1
15-48722884-A-G c.6855T>C p.D2285= Synonymous 56/66 - 2
15-48722889-G-T c.6850C>A p.P2284T Missense 56/66 - 1
15-48722902-ACCCGGGTCCACAG-A c.6825_6837del p.C2276Ifs*11 Frameshift 56/66 - 1
15-48722904-C-T c.6835G>A p.G2279R Missense 56/66 - 1
15-48722907-G-A c.6832C>T p.P2278S Missense 56/66 - 3
15-48722912-C-T c.6827G>A p.C2276Y Missense 56/66 - 1
15-48722914-G-C c.6825C>G p.I2275M Missense 56/66 - 1
15-48722918-C-A c.6821G>T p.C2274F Missense 56/66 - 1
15-48722921-A-G c.6818T>C p.M2273T Missense 56/66 - 1
15-48722924-T-C c.6815A>G p.Y2272C Missense 56/66 - 1
15-48722933-A-G c.6806T>C p.I2269T Missense 56/66 - 1
15-48722938-G-T c.6801C>A p.N2267K Missense 56/66 - 1
15-48722942-T-C c.6797A>G p.K2266R Missense 56/66 - 1
15-48722946-A-C c.6793T>G p.C2265G Missense 56/66 - 1
15-48722967-A-G c.6772T>C p.C2258R Missense 56/66 - 3
15-48722982-C-G c.6757G>C p.E2253Q Missense 56/66 - 1
15-48722983-CTT-C c.6755_6756del p.E2252Gfs*5 Frameshift 56/66 - 1
15-48722987-C-T c.6752G>A p.C2251Y Missense 56/66 - 1
15-48722988-A-G c.6751T>C p.C2251R Missense 56/66 - 1
15-48722999-T-C c.6740A>G p.D2247G Missense 56/66 - 1
15-48724768-C-G c.6739+295G>C - IntronicSNV - 55/65 1
15-48724768-C-T c.6739+295G>A - IntronicSNV - 55/65 1
15-48725062-C-A c.6739+1G>T - IntronicSNV - 55/65 1
15-48725077-C-T c.6725G>A p.R2242H Missense 55/66 - 1
15-48725078-G-A c.6724C>T p.R2242C Missense 55/66 - 1
15-48725095-T-A c.6707A>T p.Y2236F Missense 55/66 - 1
15-48725102-C-T c.6700G>A p.V2234M Missense 55/66 - 2
15-48725107-C-A c.6695G>T p.C2232F Missense 55/66 - 1
15-48725107-C-T c.6695G>A p.C2232Y Missense 55/66 - 4
15-48725108-A-G c.6694T>C p.C2232R Missense 55/66 - 2
15-48725127-A-T c.6675T>A p.Y2225* Nonsense 55/66 - 1
15-48725128-T-A c.6674A>T p.Y2225F Missense 55/66 - 2
15-48725140-C-T c.6662G>A p.C2221Y Missense 55/66 - 1
15-48725141-A-G c.6661T>C p.C2221R Missense 55/66 - 1
15-48725143-C-T c.6659G>A p.R2220Q Missense 55/66 - 1
15-48725144-G-A c.6658C>T p.R2220* Nonsense 55/66 - 1
15-48725152-C-T c.6650G>A p.C2217Y Missense 55/66 - 1
15-48725156-G-A c.6646C>T p.L2216F Missense 55/66 - 1
15-48725174-A-G c.6628T>C p.C2210R Missense 55/66 - 1
15-48726792-T-C c.6615A>G p.E2205= Synonymous 54/66 - 1
15-48726796-C-T c.6611G>A p.C2204Y Missense 54/66 - 1
15-48726811-C-T c.6596G>A p.G2199D Missense 54/66 - 1
15-48726812-C-T c.6595G>A p.G2199S Missense 54/66 - 1
15-48726814-G-A c.6593C>T p.P2198L Missense 54/66 - 1
15-48726815-G-A c.6592C>T p.P2198S Missense 54/66 - 1
15-48726823-C-A c.6584G>T p.G2195V Missense 54/66 - 1
15-48726832-C-A c.6575G>T p.C2192F Missense 54/66 - 1
15-48726838-C-T c.6569G>A p.C2190Y Missense 54/66 - 1
15-48726853-A-G c.6554T>C p.I2185T Missense 54/66 - 1
15-48726856-AC-TA c.6550_6551delinsTA p.V2184* Nonsense 54/66 - 1
15-48726859-T-C c.6548A>G p.N2183S Missense 54/66 - 1
15-48726865-C-A c.6542G>T p.C2181F Missense 54/66 - 1
15-48726873-A-C c.6534T>G p.N2178K Missense 54/66 - 1
15-48726873-A-T c.6534T>A p.N2178K Missense 54/66 - 1
15-48726879-A-T c.6528T>A p.C2176* Nonsense 54/66 - 1
15-48726890-C-T c.6517G>A p.G2173S Missense 54/66 - 1
15-48726902-C-T c.6505G>A p.E2169K Missense 54/66 - 1
15-48728634-C-T c.6496+524G>A - IntronicSNV - 53/65 1
15-48729030-T-C c.6496+128A>G - IntronicSNV - 53/65 1
15-48729158-C-T c.6496G>A p.D2166N Missense 53/66 - 1
15-48729175-G-A c.6479C>T p.A2160V Missense 53/66 - 1
15-48729178-AG-TA c.6475_6476delinsTA p.L2159* Nonsense 53/66 - 1
15-48729201-G-A c.6453C>T p.C2151= Synonymous 53/66 - 1
15-48729201-G-C c.6453C>G p.C2151W Missense 53/66 - 1
15-48729201-G-T c.6453C>A p.C2151* Nonsense 53/66 - 1
15-48729202-CA-GT c.6451_6452delinsAC p.C2151T Missense 53/66 - 1
15-48729205-C-A c.6449G>T p.R2150L Missense 53/66 - 1
15-48729205-C-T c.6449G>A p.R2150H Missense 53/66 - 2
15-48729208-T-C c.6446A>G p.Y2149C Missense 53/66 - 1
15-48729214-C-T c.6440G>A p.G2147D Missense 53/66 - 1
15-48729216-A-G c.6438T>C p.D2146= Synonymous 53/66 - 1
15-48729223-T-C c.6431A>G p.N2144S Missense 53/66 - 5
15-48729229-C-T c.6425G>A p.C2142Y Missense 53/66 - 1
15-48729230-A-G c.6424T>C p.C2142R Missense 53/66 - 1
15-48729231-AC-A c.6423del p.Q2141Hfs*19 Frameshift 53/66 - 1
15-48729237-A-T c.6417T>A p.H2139Q Missense 53/66 - 1
15-48729246-G-C c.6408C>G p.V2136= Synonymous 53/66 - 1
15-48729251-C-CG c.6402dup p.D2135Rfs*4 Frameshift 53/66 - 1
15-48729263-A-G c.6391T>C p.C2131R Missense 53/66 - 1
15-48729263-A-T c.6391T>A p.C2131S Missense 53/66 - 1
15-48729266-C-T c.6388G>A p.E2130K Missense 53/66 - 3
15-48729273-A-T c.6381T>A p.D2127E Missense 53/66 - 1
15-48729274-T-C c.6380A>G p.D2127G Missense 53/66 - 1
15-48729519-C-A c.6379G>T p.D2127Y Missense 52/66 - 1
15-48729529-A-C c.6369T>G p.D2123E Missense 52/66 - 1
15-48729529-A-T c.6369T>A p.D2123E Missense 52/66 - 1
15-48729531-C-CT c.6366_6367insA p.D2123Rfs*5 Frameshift 52/66 - 1
15-48729544-G-A c.6354C>T p.I2118= Synonymous 52/66 - 1
15-48729559-A-C c.6339T>G p.Y2113* Nonsense 52/66 - 3
15-48729559-A-T c.6339T>A p.Y2113* Nonsense 52/66 - 3
15-48729567-A-G c.6331T>C p.C2111R Missense 52/66 - 1
15-48729648-T-C c.6314-64A>G - IntronicSNV - 51/65 1
15-48729960-C-T c.6313+5G>A - IntronicSNV - 51/65 1
15-48729962-T-A c.6313+3A>T - IntronicSNV - 51/65 1
15-48729966-ATC-TTA c.6310_6312delinsTAA p.D2104* Nonsense 51/66 - 2
15-48729968-C-CA c.6309dup p.D2104* Nonsense 51/66 - 1
15-48729982-C-A c.6296G>T p.C2099F Missense 51/66 - 1
15-48729982-C-T c.6296G>A p.C2099Y Missense 51/66 - 1
15-48729990-G-T c.6288C>A p.C2096* Nonsense 51/66 - 2
15-48729992-A-AG c.6285dup p.C2096Lfs*9 Frameshift 51/66 - 1
15-48729998-C-G c.6280G>C p.D2094H Missense 51/66 - 1
15-48730000-C-T c.6278G>A p.G2093E Missense 51/66 - 1
15-48730004-A-G c.6274T>C p.W2092R Missense 51/66 - 1
15-48730025-A-C c.6253T>G p.C2085G Missense 51/66 - 1
15-48730027-C-A c.6251G>T p.C2084F Missense 51/66 - 1
15-48730027-C-G c.6251G>C p.C2084S Missense 51/66 - 1
15-48730053-G-A c.6225C>T p.S2075= Synonymous 51/66 - 1
15-48730053-G-C c.6225C>G p.S2075= Synonymous 51/66 - 1
15-48730053-G-T c.6225C>A p.S2075= Synonymous 51/66 - 1
15-48730092-A-C c.6186T>G p.Y2062* Nonsense 51/66 - 1
15-48730092-A-T c.6186T>A p.Y2062* Nonsense 51/66 - 1
15-48730096-C-A c.6182G>T p.C2061F Missense 51/66 - 1
15-48730105-AT-TA c.6172_6173delinsTA p.M2058* Nonsense 51/66 - 1
15-48730107-TCG-CCA c.6169_6171delinsTGG p.R2057W Missense 51/66 - 1
15-48730109-G-A c.6169C>T p.R2057* Nonsense 51/66 - 6
15-48733097-G-A c.6163+821C>T - IntronicSNV - 50/65 1
15-48733097-G-C c.6163+821C>G - IntronicSNV - 50/65 1
15-48733097-G-T c.6163+821C>A - IntronicSNV - 50/65 1
15-48733625-C-G c.6163+293G>C - IntronicSNV - 50/65 1
15-48733625-C-T c.6163+293G>A - IntronicSNV - 50/65 1
15-48733911-CACTT-C c.6163+3_6163+6del - IntronicDeletion - 50/65 1
15-48733916-A-T c.6163+2T>A - IntronicSNV - 50/65 1
15-48733923-C-A c.6158G>T p.C2053F Missense 50/66 - 1
15-48733923-C-T c.6158G>A p.C2053Y Missense 50/66 - 2
15-48733954-C-G c.6127G>C p.G2043R Missense 50/66 - 1
15-48733954-C-T c.6127G>A p.G2043R Missense 50/66 - 1
15-48733955-T-A c.6126A>T p.E2042D Missense 50/66 - 1
15-48733955-T-G c.6126A>C p.E2042D Missense 50/66 - 1
15-48733956-T-C c.6125A>G p.E2042G Missense 50/66 - 1
15-48733968-C-T c.6113G>A p.C2038Y Missense 50/66 - 1
15-48733996-A-G c.6085T>C p.C2029R Missense 50/66 - 1
15-48734008-C-A c.6073G>T p.A2025S Missense 50/66 - 1
15-48734010-C-T c.6071G>A p.C2024Y Missense 50/66 - 1
15-48734026-C-T c.6055G>A p.E2019K Missense 50/66 - 3
15-48734031-C-T c.6050G>A p.C2017Y Missense 50/66 - 1
15-48734038-C-T c.6043G>A p.D2015N Missense 50/66 - 1
15-48734624-G-A c.6038-581C>T - IntronicSNV - 49/65 2
15-48734624-G-T c.6038-581C>A - IntronicSNV - 49/65 2
15-48736684-A-T c.6037+54T>A - IntronicSNV - 49/65 4
15-48736736-A-G c.6037+2T>C - IntronicSNV - 49/65 2
15-48736738-C-A c.6037G>T p.D2013Y Missense 49/66 - 2
15-48736744-A-C c.6031T>G p.C2011G Missense 49/66 - 1
15-48736768-C-G c.6007G>C p.G2003R Missense 49/66 - 3
15-48736768-C-T c.6007G>A p.G2003R Missense 49/66 - 3
15-48736771-G-A c.6004C>T p.P2002S Missense 49/66 - 1
15-48736775-G-T c.6000C>A p.C2000* Nonsense 49/66 - 2
15-48736782-C-A c.5993G>T p.C1998F Missense 49/66 - 1
15-48736809-C-A c.5966G>T p.C1989F Missense 49/66 - 1
15-48736809-C-G c.5966G>C p.C1989S Missense 49/66 - 1
15-48736845-C-T c.5930G>A p.C1977Y Missense 49/66 - 4
15-48736846-A-G c.5929T>C p.C1977R Missense 49/66 - 3
15-48736849-C-T c.5926G>A p.E1976K Missense 49/66 - 1
15-48736857-T-C c.5918A>G p.D1973G Missense 49/66 - 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
15-48737574-CCACACAGGTCCTCCCATCTGGAGCCACCTCATAGCCTTCATTGCACTGGCACTGGAAAG-C c.5858_5916del p.S1953* Unclassified 48/66 - 1
15-48737577-A-T c.5913T>A p.C1971* Nonsense 48/66 - 1
15-48737578-C-T c.5912G>A p.C1971Y Missense 48/66 - 1
15-48737594-GAGCCACCTCAT-G c.5885_5895del p.Y1962Sfs*11 Frameshift 48/66 - 1
15-48737617-C-T c.5873G>A p.C1958Y Missense 48/66 - 3
15-48737618-A-G c.5872T>C p.C1958R Missense 48/66 - 1
15-48737618-A-T c.5872T>A p.C1958S Missense 48/66 - 1
15-48737624-A-G c.5866T>C p.C1956R Missense 48/66 - 1
15-48737627-G-A c.5863C>T p.Q1955* Nonsense 48/66 - 2
15-48737632-G-GA c.5857dup p.S1953Ffs*8 Frameshift 48/66 - 1
15-48737635-C-T c.5855G>A p.G1952E Missense 48/66 - 1
15-48737633-AC-A c.5856del p.S1953Lfs*27 Frameshift 48/66 - 2
15-48737649-G-T c.5841C>A p.C1947* Nonsense 48/66 - 1
15-48737650-C-A c.5840G>T p.C1947F Missense 48/66 - 1
15-48737656-C-T c.5834G>A p.G1945D Missense 48/66 - 1
15-48737664-G-T c.5826C>A p.C1942* Nonsense 48/66 - 1
15-48737665-C-G c.5825G>C p.C1942S Missense 48/66 - 1
15-48737680-C-T c.5810G>A p.G1937E Missense 48/66 - 1
15-48737685-T-G c.5805A>C p.A1935= Synonymous 48/66 - 1
15-48737689-C-T c.5801G>A p.C1934Y Missense 48/66 - 1
15-48737691-TTCA-T c.5796_5798del p.D1932del InFrameDeletion 48/66 - 1
15-48737701-T-C c.5789A>G p.D1930G Missense 48/66 - 1
15-48738898-C-A c.5788+5G>T - IntronicSNV - 47/65 1
15-48738898-C-T c.5788+5G>A - IntronicSNV - 47/65 6
15-48738902-C-T c.5788+1G>A - IntronicSNV - 47/65 1
15-48738903-C-G c.5788G>C p.D1930H Missense 47/66 - 2
15-48738903-C-T c.5788G>A p.D1930N Missense 47/66 - 2
15-48738904-TATACAGTCATTGTTGTGAGAAAGGATGAAACCATGATTGCAGCGGCAGTTGAAGGAACC-T c.5728_5786del p.G1910Rfs*3 Unclassified 47/66 - 1
15-48738908-C-T c.5783G>A p.C1928Y Missense 47/66 - 1
15-48738908-C-G c.5783G>C p.C1928S Missense 47/66 - 1
15-48738909-A-T c.5782T>A p.C1928S Missense 47/66 - 1
15-48738913-CA-C c.5778del p.N1926Kfs*4 Frameshift 47/66 - 1
15-48738926-AG-A c.5764del p.L1922Ffs*8 Frameshift 47/66 - 1
15-48738945-A-G c.5746T>C p.C1916R Missense 47/66 - 1
15-48738949-G-T c.5742C>A p.C1914* Nonsense 47/66 - 1
15-48738950-C-T c.5741G>A p.C1914Y Missense 47/66 - 1
15-48738956-A-C c.5735T>G p.F1912C Missense 47/66 - 1
15-48738965-A-G c.5726T>C p.I1909T Missense 47/66 - 1
15-48738968-G-A c.5723C>T p.T1908I Missense 47/66 - 1
15-48738972-T-C c.5719A>G p.N1907D Missense 47/66 - 1
15-48738984-C-T c.5707G>A p.G1903R Missense 47/66 - 1
15-48739013-T-C c.5678A>G p.N1893S Missense 47/66 - 1
15-48739016-AT-TA c.5674_5675delinsTA p.I1892* Nonsense 47/66 - 1
15-48739019-T-C c.5672A>G p.D1891G Missense 47/66 - 1
15-48739022-A-G c.5672-3T>C - IntronicSNV - 46/65 1
15-48739274-A-G c.5672-255T>C - IntronicSNV - 46/65 1
15-48740097-C-T c.5671+868G>A - IntronicSNV - 46/65 1
15-48740965-C-G c.5671G>C p.D1891H Missense 46/66 - 1
15-48740965-C-T c.5671G>A p.D1891N Missense 46/66 - 1
15-48740970-C-A c.5666G>T p.C1889F Missense 46/66 - 1
15-48740973-A-T c.5663T>A p.M1888K Missense 46/66 - 1
15-48741000-C-T c.5636G>A p.G1879D Missense 46/66 - 1
15-48741006-T-C c.5630A>G p.H1877R Missense 46/66 - 1
15-48741009-C-T c.5627G>A p.C1876Y Missense 46/66 - 3
15-48741015-C-A c.5621G>T p.C1874F Missense 46/66 - 1
15-48741042-C-T c.5594G>A p.C1865Y Missense 46/66 - 1
15-48741048-C-A c.5588G>T p.G1863V Missense 46/66 - 1
15-48741057-C-A c.5579G>T p.C1860F Missense 46/66 - 1
15-48741057-C-T c.5579G>A p.C1860Y Missense 46/66 - 1
15-48741077-GA-G c.5559del p.Q1854Kfs*39 Frameshift 46/66 - 1
15-48741078-C-G c.5558G>C p.C1853S Missense 46/66 - 1
15-48741087-C-T c.5549G>A p.R1850H Missense 46/66 - 1
15-48742807-T-C c.5546-1717A>G - IntronicSNV - 45/65 1
15-48744005-T-C c.5545+754A>G - IntronicSNV - 45/65 1
15-48744489-C-A c.5545+270G>T - IntronicSNV - 45/65 1
15-48744764-C-A c.5540G>T p.C1847F Missense 45/66 - 1
15-48744776-G-A c.5528C>T p.S1843F Missense 45/66 - 1
15-48744786-G-A c.5518C>T p.R1840C Missense 45/66 - 1
15-48744788-T-A c.5516A>T p.Y1839F Missense 45/66 - 1
15-48744792-CG-C c.5511del p.G1838Afs*55 Frameshift 45/66 - 1
15-48744800-CA-GC c.5503_5504delinsGC p.C1835A Missense 45/66 - 1
15-48744801-A-C c.5503T>G p.C1835G Missense 45/66 - 1
15-48744801-A-T c.5503T>A p.C1835S Missense 45/66 - 1
15-48744806-C-A c.5498G>T p.C1833F Missense 45/66 - 1
15-48744806-C-G c.5498G>C p.C1833S Missense 45/66 - 1
15-48744807-A-G c.5497T>C p.C1833R Missense 45/66 - 2
15-48744807-A-T c.5497T>A p.C1833S Missense 45/66 - 1
15-48744810-G-A c.5494C>T p.R1832C Missense 45/66 - 1
15-48744825-T-A c.5479A>T p.T1827S Missense 45/66 - 1
15-48744833-C-A c.5471G>T p.C1824F Missense 45/66 - 1
15-48744833-CA-GT c.5470_5471delinsAC p.C1824T Missense 45/66 - 2
15-48744833-C-T c.5471G>A p.C1824Y Missense 45/66 - 1
15-48744840-C-T c.5464G>A p.A1822T Missense 45/66 - 1
15-48744849-G-A c.5455C>T p.Q1819* Nonsense 45/66 - 1
15-48744852-A-T c.5452T>A p.C1818S Missense 45/66 - 1
15-48744860-C-T c.5444G>A p.G1815D Missense 45/66 - 1
15-48744861-C-T c.5443G>A p.G1815S Missense 45/66 - 2
15-48744869-C-A c.5435G>T p.C1812F Missense 45/66 - 1
15-48744870-A-G c.5434T>C p.C1812R Missense 45/66 - 2
15-48744873-C-T c.5431G>A p.E1811K Missense 45/66 - 3
15-48745322-G-A c.5423-441C>T - IntronicSNV - 44/65 1
15-48745490-A-AC c.5423-610dup - IntronicInsertion - 44/65 1
15-48745491-C-A c.5423-610G>T - IntronicSNV - 44/65 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.D1808H Missense 44/66 - 1
15-48748839-C-T c.5417G>A p.C1806Y Missense 44/66 - 1
15-48748869-C-A c.5387G>T p.G1796V Missense 44/66 - 1
15-48748869-C-T c.5387G>A p.G1796E Missense 44/66 - 2
15-48748878-CA-GT c.5377_5378delinsAC p.C1793T Missense 44/66 - 1
15-48748879-A-G c.5377T>C p.C1793R Missense 44/66 - 2
15-48748879-A-T c.5377T>A p.C1793S Missense 44/66 - 1
15-48748884-C-A c.5372G>T p.C1791F Missense 44/66 - 1
15-48748884-C-T c.5372G>A p.C1791Y Missense 44/66 - 1
15-48748905-T-C c.5351A>G p.N1784S Missense 44/66 - 1
15-48748909-T-A c.5347A>T p.I1783F Missense 44/66 - 1
15-48748912-A-G c.5344T>C p.C1782R Missense 44/66 - 1
15-48748913-C-T c.5343G>A p.V1781= Synonymous 44/66 - 2
15-48748917-C-T c.5339G>A p.G1780E Missense 44/66 - 1
15-48748926-C-T c.5330G>A p.C1777Y Missense 44/66 - 1
15-48748947-C-T c.5309G>A p.C1770Y Missense 44/66 - 1
15-48749703-T-C c.5297-744A>G - IntronicSNV - 43/65 1
15-48749703-T-G c.5297-744A>C - IntronicSNV - 43/65 1
15-48750520-C-A c.5297-1561G>T - IntronicSNV - 43/65 1
15-48751329-C-G c.5296+1114G>C - IntronicSNV - 43/65 1
15-48752442-C-A c.5296+1G>T - IntronicSNV - 43/65 1
15-48752443-C-T c.5296G>A p.D1766N Missense 43/66 - 1
15-48752447-G-A c.5292C>T p.P1764= Synonymous 43/66 - 1
15-48752455-C-T c.5284G>A p.G1762S Missense 43/66 - 5
15-48752457-G-A c.5282C>T p.T1761I Missense 43/66 - 2
15-48752466-T-A c.5273A>T p.D1758V Missense 43/66 - 3
15-48752467-C-A c.5272G>T p.D1758Y Missense 43/66 - 1
15-48752481-TGGCCTTTGAC-T c.5249_5258del p.S1750Kfs*140 Frameshift 43/66 - 1
15-48752487-TTGACTTCCACA-T c.5242_5252del p.C1748Kfs*15 Frameshift 43/66 - 1
15-48752489-A-C c.5250T>G p.S1750R Missense 43/66 - 3
15-48752489-A-T c.5250T>A p.S1750R Missense 43/66 - 3
15-48752489-GACT-G c.5248_5250del p.S1750del InFrameDeletion 43/66 - 1
15-48752491-T-G c.5248A>C p.S1750R Missense 43/66 - 3
15-48752496-C-A c.5243G>T p.C1748F Missense 43/66 - 2
15-48752496-C-G c.5243G>C p.C1748S Missense 43/66 - 2
15-48752496-C-T c.5243G>A p.C1748Y Missense 43/66 - 1
15-48752497-A-G c.5242T>C p.C1748R Missense 43/66 - 5
15-48752497-A-T c.5242T>A p.C1748S 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 2
15-48753624-C-A c.5225-1110G>T - IntronicSNV - 42/65 1
15-48753624-C-T c.5225-1110G>A - IntronicSNV - 42/65 1
15-48754122-G-C c.5224+1157C>G - IntronicSNV - 42/65 1
15-48754122-G-T c.5224+1157C>A - IntronicSNV - 42/65 1
15-48755168-T-C c.5224+111A>G - IntronicSNV - 42/65 4
15-48755295-A-T c.5208T>A p.C1736* Nonsense 42/66 - 1
15-48755300-GT-G c.5202del p.E1734Dfs*159 Frameshift 42/66 - 1
15-48755305-C-A c.5198G>T p.C1733F Missense 42/66 - 1
15-48755305-C-T c.5198G>A p.C1733Y Missense 42/66 - 1
15-48755306-A-C c.5197T>G p.C1733G Missense 42/66 - 2
15-48755320-G-A c.5183C>T p.A1728V Missense 42/66 - 4
15-48755320-G-T c.5183C>A p.A1728E Missense 42/66 - 1
15-48755321-C-T c.5182G>A p.A1728T Missense 42/66 - 3
15-48755326-C-A c.5177G>T p.G1726V Missense 42/66 - 3
15-48755338-G-C c.5165C>G p.S1722C Missense 42/66 - 2
15-48755341-C-T c.5162G>A p.C1721Y Missense 42/66 - 3
15-48755344-C-T c.5159G>A p.C1720Y Missense 42/66 - 1
15-48755346-G-C c.5157C>G p.C1719W Missense 42/66 - 2
15-48755347-C-T c.5156G>A p.C1719Y Missense 42/66 - 1
15-48755350-ATCT-A c.5150_5152del p.K1717del InFrameDeletion 42/66 - 1
15-48755362-A-C c.5141T>G p.M1714R Missense 42/66 - 2
15-48755386-C-T c.5117G>A p.C1706Y Missense 42/66 - 3
15-48755404-T-C c.5099A>G p.Y1700C Missense 42/66 - 5
15-48755407-T-C c.5096A>G p.Y1699C Missense 42/66 - 3
15-48755408-A-C c.5095T>G p.Y1699D Missense 42/66 - 2
15-48755416-T-C c.5087A>G p.Y1696C Missense 42/66 - 3
15-48755417-A-C c.5086T>G p.Y1696D Missense 42/66 - 1
15-48755419-C-A c.5084G>T p.C1695F Missense 42/66 - 1
15-48755419-C-T c.5084G>A p.C1695Y Missense 42/66 - 2
15-48755421-C-CA c.5081dup p.L1694Ffs*9 Frameshift 42/66 - 1
15-48755425-C-CA c.5077_5078insT p.S1693Mfs*10 Frameshift 42/66 - 1
15-48755424-ACTT-A c.5076_5078del p.R1692del InFrameDeletion 42/66 - 1
15-48756095-C-T c.5065+1G>A - IntronicSNV - 41/65 1
15-48756100-G-T c.5061C>A p.C1687* Nonsense 41/66 - 1
15-48756101-C-T c.5060G>A p.C1687Y Missense 41/66 - 1
15-48756129-A-C c.5032T>G p.Y1678D Missense 41/66 - 1
15-48756140-C-A c.5021G>T p.C1674F Missense 41/66 - 1
15-48756140-C-T c.5021G>A p.C1674Y Missense 41/66 - 1
15-48756146-AC-A c.5015del p.C1672Lfs*10 Frameshift 41/66 - 1
15-48756146-C-A c.5015G>T p.C1672F Missense 41/66 - 1
15-48756146-C-G c.5015G>C p.C1672S Missense 41/66 - 1
15-48756146-C-T c.5015G>A p.C1672Y Missense 41/66 - 1
15-48756161-A-T c.5000T>A p.V1667D Missense 41/66 - 1
15-48756173-C-A c.4988G>T p.C1663F Missense 41/66 - 1
15-48756174-A-C c.4987T>G p.C1663G Missense 41/66 - 1
15-48756174-A-G c.4987T>C p.C1663R Missense 41/66 - 7
15-48756184-GA-G c.4977del p.P1660Qfs*22 Frameshift 41/66 - 1
15-48756185-C-A c.4976G>T p.G1659V Missense 41/66 - 1
15-48756191-A-AT c.4969dup p.I1657Nfs*30 Frameshift 41/66 - 1
15-48756206-C-T c.4955G>A p.C1652Y Missense 41/66 - 2
15-48756207-A-G c.4954T>C p.C1652R Missense 41/66 - 1
15-48756205-ACATT-A c.4952_4955del p.E1651Vfs*30 Frameshift 41/66 - 2
15-48756536-C-G c.4943-318G>C - IntronicSNV - 40/65 2
15-48757195-A-G c.4942+570T>C - IntronicSNV - 40/65 9
15-48757460-T-C c.4942+305A>G - IntronicSNV - 40/65 1
15-48757770-C-T c.4937G>A p.C1646Y Missense 40/66 - 1
15-48757774-C-T c.4933G>A p.V1645M Missense 40/66 - 1
15-48757777-G-A c.4930C>T p.R1644* Nonsense 40/66 - 5
15-48757782-T-C c.4925A>G p.D1642G Missense 40/66 - 1
15-48757809-CA-GT c.4897_4898delinsAC p.C1633T Missense 40/66 - 1
15-48757810-A-G c.4897T>C p.C1633R Missense 40/66 - 1
15-48757812-C-T c.4895G>A p.R1632H Missense 40/66 - 2
15-48757819-G-A c.4888C>T p.Q1630* Nonsense 40/66 - 1
15-48757827-C-T c.4880G>A p.G1627E Missense 40/66 - 1
15-48757843-A-G c.4864T>C p.C1622R Missense 40/66 - 1
15-48757848-C-T c.4859G>A p.G1620E Missense 40/66 - 1
15-48757875-TG-T c.4831del p.Q1611Rfs*29 Frameshift 40/66 - 1
15-48757985-A-G c.4816+2T>C - IntronicSNV - 39/65 1
15-48757987-C-T c.4816G>A p.D1606N Missense 39/66 - 1
15-48757990-C-A c.4813G>T p.E1605* Nonsense 39/66 - 1
15-48757990-C-T c.4813G>A p.E1605K Missense 39/66 - 1
15-48758016-C-G c.4787G>C p.R1596P Missense 39/66 - 1
15-48758017-G-A c.4786C>T p.R1596* Nonsense 39/66 - 5
15-48758018-GA-G c.4784del p.F1595Sfs*45 Frameshift 39/66 - 1
15-48758022-CC-TT c.4780_4781delinsAA p.G1594N Missense 39/66 - 2
15-48758022-C-T c.4781G>A p.G1594D Missense 39/66 - 1
15-48758023-C-T c.4780G>A p.G1594S Missense 39/66 - 1
15-48758037-C-A c.4766G>T p.C1589F Missense 39/66 - 2
15-48758041-G-A c.4762C>T p.L1588F Missense 39/66 - 1
15-48758053-C-CA c.4749_4750insT p.E1584* SpliceAcceptorInsertion 39/66 - 1
15-48758053-C-CT c.4749_4750insA p.E1584Rfs*25 SpliceAcceptorInsertion 39/66 - 1
15-48758053-C-T c.4750G>A p.E1584K Missense 39/66 - 1
15-48758053-C-CG c.4749dup p.E1584Rfs*25 SpliceAcceptorInsertion - - 1
15-48758132-A-C c.4748-77T>G - IntronicSNV - 38/65 1
15-48759291-G-T c.4747+844C>A - IntronicSNV - 38/65 3
15-48760130-C-A c.4747+5G>T - IntronicSNV - 38/65 1
15-48760130-C-G c.4747+5G>C - IntronicSNV - 38/65 1
15-48760130-C-T c.4747+5G>A - IntronicSNV - 38/65 1
15-48760144-C-T c.4738G>A p.V1580M Missense 38/66 - 1
15-48760153-A-C c.4729T>G p.C1577G Missense 38/66 - 2
15-48760155-A-G c.4727T>C p.M1576T Missense 38/66 - 4
15-48760156-T-C c.4726A>G p.M1576V Missense 38/66 - 1
15-48760171-C-A c.4711G>T p.G1571C Missense 38/66 - 1
15-48760172-C-A c.4710G>T p.W1570C Missense 38/66 - 4
15-48760172-C-G c.4710G>C p.W1570C Missense 38/66 - 7
15-48760182-C-T c.4700G>A p.G1567D Missense 38/66 - 1
15-48760191-C-T c.4691G>A p.C1564Y Missense 38/66 - 2
15-48760191-C-G c.4691G>C p.C1564S Missense 38/66 - 3
15-48760192-A-T c.4690T>A p.C1564S Missense 38/66 - 2
15-48760243-T-C c.4639A>G p.T1547A Missense 38/66 - 1
15-48760254-T-G c.4628A>C p.D1543A Missense 38/66 - 1
15-48760261-G-A c.4621C>T p.R1541* Nonsense 38/66 - 2
15-48760266-CG-GT c.4615_4616delinsAC p.R1539T Missense 38/66 - 1
15-48760293-C-T c.4589G>A p.R1530H Missense 38/66 - 1
15-48760294-G-A c.4588C>T p.R1530C Missense 38/66 - 4
15-48760609-C-A c.4582G>T p.D1528Y Missense 37/66 - 1
15-48760624-G-A c.4567C>T p.R1523* Nonsense 37/66 - 3
15-48760645-CAG-ATCT c.4544_4546delinsAGAT p.P1515Qfs*4 Frameshift 37/66 - 1
15-48760659-C-A c.4532G>T p.C1511F Missense 37/66 - 1
15-48760660-A-G c.4531T>C p.C1511R Missense 37/66 - 2
15-48760663-T-TA c.4527dup p.I1510Yfs*3 Frameshift 37/66 - 1
15-48760686-C-T c.4505G>A p.C1502Y Missense 37/66 - 1
15-48760687-A-T c.4504T>A p.C1502S Missense 37/66 - 1
15-48760700-G-C c.4491C>G p.C1497W Missense 37/66 - 1
15-48760701-C-T c.4490G>A p.C1497Y Missense 37/66 - 1
15-48760722-T-G c.4469A>C p.E1490A Missense 37/66 - 1
15-48760723-C-T c.4468G>A p.E1490K Missense 37/66 - 1
15-48760724-A-T c.4467T>A p.N1489K Missense 37/66 - 2
15-48760725-TT-AG c.4465_4466delinsCT p.N1489L Missense 37/66 - 1
15-48760731-T-C c.4460A>G p.D1487G Missense 37/66 - 2
15-48760731-T-G c.4460A>C p.D1487A Missense 37/66 - 1
15-48760739-C-T c.4460-8G>A - IntronicSNV - 36/65 1
15-48760750-T-C c.4460-19A>G - IntronicSNV - 36/65 1
15-48762489-C-T c.4459+342G>A - IntronicSNV - 36/65 1
15-48762836-C-T c.4454G>A p.C1485Y Missense 36/66 - 1
15-48762837-A-G c.4453T>C p.C1485R Missense 36/66 - 1
15-48762846-C-T c.4444G>A p.G1482S Missense 36/66 - 1
15-48762853-G-C c.4437C>G p.D1479E Missense 36/66 - 1
15-48762853-G-T c.4437C>A p.D1479E Missense 36/66 - 1
15-48762861-C-A c.4429G>T p.E1477* Nonsense 36/66 - 1
15-48762876-A-G c.4414T>C p.C1472R Missense 36/66 - 1
15-48762884-C-G c.4406G>C p.R1469P Missense 36/66 - 1
15-48762890-A-G c.4400T>C p.L1467P Missense 36/66 - 1
15-48762903-T-G c.4387A>C p.N1463H Missense 36/66 - 1
15-48762909-A-G c.4381T>C p.C1461R Missense 36/66 - 1
15-48762923-C-G c.4367G>C p.C1456S Missense 36/66 - 1
15-48762938-GAGC-G c.4349_4351del p.C1450del InFrameDeletion 36/66 - 2
15-48762942-A-C c.4348T>G p.C1450G Missense 36/66 - 1
15-48762942-A-G c.4348T>C p.C1450R Missense 36/66 - 1
15-48762943-C-A c.4347G>T p.E1449D Missense 36/66 - 1
15-48762944-T-A c.4346A>T p.E1449V Missense 36/66 - 1
15-48762947-T-C c.4343A>G p.D1448G Missense 36/66 - 1
15-48764391-C-G c.4336+357G>C - IntronicSNV - 35/65 1
15-48764748-C-T c.4336G>A p.D1446N Missense 35/66 - 1
15-48764753-C-T c.4331G>A p.C1444Y Missense 35/66 - 1
15-48764762-CC-TA c.4321_4322delinsTA p.G1441* Nonsense 35/66 - 1
15-48764769-C-T c.4315G>A p.A1439T Missense 35/66 - 1
15-48764791-G-C c.4293C>G p.C1431W Missense 35/66 - 1
15-48764792-C-T c.4292G>A p.C1431Y Missense 35/66 - 2
15-48764793-A-G c.4291T>C p.C1431R Missense 35/66 - 2
15-48764798-C-T c.4286G>A p.C1429Y Missense 35/66 - 1
15-48764800-G-GC c.4283dup p.C1429Lfs*2 Frameshift 35/66 - 1
15-48764801-CG-C c.4282del p.R1428Afs*47 Frameshift 35/66 - 1
15-48764814-G-C c.4270C>G p.P1424A Missense 35/66 - 5
15-48764813-GGT-G c.4269_4270del p.P1424Rfs*6 Frameshift 35/66 - 1
15-48764825-C-A c.4259G>T p.C1420F Missense 35/66 - 1
15-48764825-C-G c.4259G>C p.C1420S Missense 35/66 - 2
15-48764826-A-T c.4258T>A p.C1420S Missense 35/66 - 2
15-48764824-GCACTGGC-G c.4253_4259del p.G1418Afs*55 Frameshift 35/66 - 1
15-48764829-G-A c.4255C>T p.Q1419* Nonsense 35/66 - 1
15-48764840-C-T c.4244G>A p.C1415Y Missense 35/66 - 1
15-48764849-AG-TA c.4234_4235delinsTA p.L1412* Nonsense 35/66 - 2
15-48764861-C-A c.4223G>T p.C1408F Missense 35/66 - 2
15-48764862-A-G c.4222T>C p.C1408R Missense 35/66 - 3
15-48764867-T-C c.4217A>G p.D1406G Missense 35/66 - 1
15-48764870-A-C c.4214T>G p.L1405R Missense 35/66 - 3
15-48765033-A-C c.4211-160T>G - IntronicSNV - 34/65 1
15-48765044-T-G c.4211-171A>C - IntronicSNV - 34/65 1
15-48766015-T-A c.4210+437A>T - IntronicSNV - 34/65 3
15-48766250-G-A c.4210+202C>T - IntronicSNV - 34/65 1
15-48766250-G-C c.4210+202C>G - IntronicSNV - 34/65 1
15-48766451-C-T c.4210+1G>A - IntronicSNV - 34/65 1
15-48766452-C-A c.4210G>T p.D1404Y Missense 34/66 - 1
15-48766456-A-C c.4206T>G p.C1402W Missense 34/66 - 1
15-48766457-C-T c.4205G>A p.C1402Y Missense 34/66 - 1
15-48766460-AG-A c.4202del p.T1401Ifs*12 Frameshift 34/66 - 1
15-48766475-G-A c.4187C>T p.T1396I Missense 34/66 - 1
15-48766484-T-C c.4178A>G p.E1393G Missense 34/66 - 1
15-48766490-C-A c.4172G>T p.C1391F Missense 34/66 - 1
15-48766496-C-G c.4166G>C p.C1389S Missense 34/66 - 1
15-48766499-C-T c.4163G>A p.R1388H Missense 34/66 - 1
15-48766500-G-A c.4162C>T p.R1388C Missense 34/66 - 1
15-48766501-G-GT c.4160dup p.Y1387* Nonsense 34/66 - 1
15-48766517-T-C c.4145A>G p.N1382S Missense 34/66 - 1
15-48766519-C-A c.4143G>T p.K1381N Missense 34/66 - 1
15-48766519-C-G c.4143G>C p.K1381N Missense 34/66 - 2
15-48766523-C-T c.4139G>A p.C1380Y Missense 34/66 - 1
15-48766566-C-T c.4096G>A p.E1366K Missense 34/66 - 4
15-48766725-C-T c.4087G>A p.D1363N Missense 33/66 - 1
15-48766730-CA-TT c.4081_4082delinsAA p.C1361N Missense 33/66 - 1
15-48766730-C-T c.4082G>A p.C1361Y Missense 33/66 - 4
15-48766755-C-G c.4057G>C p.G1353R Missense 33/66 - 1
15-48766755-C-T c.4057G>A p.G1353R Missense 33/66 - 3
15-48766763-C-T c.4049G>A p.C1350Y Missense 33/66 - 1
15-48766769-C-T c.4043G>A p.C1348Y Missense 33/66 - 1
15-48766781-C-T c.4031G>A p.G1344E Missense 33/66 - 2
15-48766785-C-T c.4027G>A p.A1343T Missense 33/66 - 1
15-48766788-T-C c.4024A>G p.T1342A Missense 33/66 - 1
15-48766790-T-C c.4022A>G p.N1341S Missense 33/66 - 1
15-48766800-C-T c.4012G>A p.V1338I Missense 33/66 - 1
15-48766803-C-G c.4009G>C p.A1337P Missense 33/66 - 1
15-48766811-C-T c.4001G>A p.G1334D Missense 33/66 - 1
15-48766816-GT-G c.3995del p.N1332Tfs*81 Frameshift 33/66 - 1
15-48766836-A-G c.3976T>C p.C1326R Missense 33/66 - 2
15-48766838-T-A c.3974A>T p.E1325V Missense 33/66 - 1
15-48766840-AT-CA c.3971_3972delinsTG p.N1324M Missense 33/66 - 1
15-48766841-T-C c.3971A>G p.N1324S Missense 33/66 - 2
15-48766855-A-G c.3965-8T>C - IntronicSNV - 32/65 1
15-48767178-C-T c.3965-331G>A - IntronicSNV - 32/65 1
15-48768633-G-A c.3965-1786C>T - IntronicSNV - 32/65 1
15-48769044-C-T c.3965-2197G>A - IntronicSNV - 32/65 1
15-48770580-A-G c.3964+3272T>C - IntronicSNV - 32/65 1
15-48771419-C-G c.3964+2433G>C - IntronicSNV - 32/65 1
15-48772936-A-G c.3964+916T>C - IntronicSNV - 32/65 1
15-48773852-C-G c.3964G>C p.D1322H Missense 32/66 - 1
15-48773852-C-T c.3964G>A p.D1322N Missense 32/66 - 1
15-48773853-T-C c.3963A>G p.T1321= Synonymous 32/66 - 1
15-48773857-C-T c.3959G>A p.C1320Y Missense 32/66 - 1
15-48773857-C-G c.3959G>C p.C1320S Missense 32/66 - 1
15-48773858-A-G c.3958T>C p.C1320R Missense 32/66 - 1
15-48773858-A-T c.3958T>A p.C1320S Missense 32/66 - 1
15-48773870-C-CT c.3945dup p.G1316Rfs*10 Frameshift 32/66 - 1
15-48773879-C-T c.3937G>A p.G1313S Missense 32/66 - 2
15-48773884-T-C c.3932A>G p.Y1311C Missense 32/66 - 1
15-48773888-C-T c.3928G>A p.G1310S Missense 32/66 - 1
15-48773895-A-C c.3921T>G p.C1307W Missense 32/66 - 1
15-48773906-TA-T c.3909del p.F1303Lfs*110 Frameshift 32/66 - 1
15-48773914-C-A c.3902G>T p.G1301V Missense 32/66 - 1
15-48773918-T-C c.3898A>G p.K1300E Missense 32/66 - 1
15-48773920-G-A c.3896C>T p.T1299M Missense 32/66 - 1
15-48773926-T-C c.3890A>G p.E1297G Missense 32/66 - 6
15-48773965-C-T c.3851G>A p.C1284Y Missense 32/66 - 1
15-48773971-T-C c.3845A>G p.N1282S Missense 32/66 - 1
15-48774288-A-C c.3839-311T>G - IntronicSNV - 31/65 1
15-48774288-A-G c.3839-311T>C - IntronicSNV - 31/65 1
15-48776013-A-G c.3838+2T>C - IntronicSNV - 31/65 1
15-48776014-C-G c.3838+1G>C - IntronicSNV - 31/65 1
15-48776019-A-C c.3834T>G p.C1278W Missense 31/66 - 1
15-48776020-C-T c.3833G>A p.C1278Y Missense 31/66 - 2
15-48776029-AT-TA c.3823_3824delinsTA p.M1275* Nonsense 31/66 - 1
15-48776054-C-T c.3799G>A p.D1267N Missense 31/66 - 1
15-48776056-T-A c.3797A>T p.Y1266F Missense 31/66 - 2
15-48776060-CA-C c.3793del p.C1265Vfs*11 Frameshift 31/66 - 1
15-48776075-C-A c.3778G>T p.E1260* Nonsense 31/66 - 2
15-48776081-G-A c.3772C>T p.P1258S Missense 31/66 - 1
15-48776092-C-T c.3761G>A p.C1254Y Missense 31/66 - 2
15-48776095-T-C c.3758A>G p.Q1253R Missense 31/66 - 1
15-48776096-G-A c.3757C>T p.Q1253* Nonsense 31/66 - 1
15-48776105-C-A c.3748G>T p.D1250Y Missense 31/66 - 1
15-48776128-C-T c.3725G>A p.C1242Y Missense 31/66 - 3
15-48776135-C-T c.3718G>A p.D1240N Missense 31/66 - 1
15-48776140-T-C c.3713A>G p.D1238G Missense 31/66 - 1
15-48777571-C-T c.3712G>A p.D1238N Missense 30/66 - 4
15-48777580-A-G c.3703T>C p.S1235P Missense 30/66 - 2
15-48777606-C-G c.3677G>C p.G1226A Missense 30/66 - 1
15-48777609-G-A c.3674C>T p.P1225L Missense 30/66 - 1
15-48777615-C-T c.3668G>A p.C1223Y Missense 30/66 - 5
15-48777621-CA-GT c.3661_3662delinsAC p.C1221T Missense 30/66 - 1
15-48777621-C-T c.3662G>A p.C1221Y Missense 30/66 - 1
15-48777627-T-C c.3656A>G p.Y1219C Missense 30/66 - 1
15-48777634-C-T c.3649G>A p.G1217S Missense 30/66 - 1
15-48777637-C-A c.3646G>T p.E1216* Nonsense 30/66 - 1
15-48777648-C-T c.3635G>A p.C1212Y Missense 30/66 - 1
15-48777660-C-A c.3623G>T p.C1208F Missense 30/66 - 1
15-48777666-C-T c.3617G>A p.G1206D Missense 30/66 - 1
15-48777681-C-T c.3602G>A p.C1201Y Missense 30/66 - 1
15-48777682-A-G c.3601T>C p.C1201R Missense 30/66 - 1
15-48777685-C-T c.3598G>A p.E1200K Missense 30/66 - 2
15-48779272-C-T c.3589G>A p.D1197N Missense 29/66 - 1
15-48779282-TAG-CCA c.3577_3579delinsTGG p.L1193W Missense 29/66 - 1
15-48779286-CT-TA c.3574_3575delinsTA p.R1192* Nonsense 29/66 - 2
15-48779288-ATC-TTA c.3571_3573delinsTAA p.D1191* Nonsense 29/66 - 1
15-48779290-C-T c.3571G>A p.D1191N Missense 29/66 - 3
15-48779304-T-C c.3557A>G p.Y1186C Missense 29/66 - 1
15-48779306-AG-A c.3555del p.Y1186Tfs*18 Frameshift 29/66 - 1
15-48779316-C-G c.3545G>C p.C1182S Missense 29/66 - 1
15-48779317-A-T c.3544T>A p.C1182S Missense 29/66 - 1
15-48779328-T-C c.3533A>G p.Y1178C Missense 29/66 - 1
15-48779343-T-A c.3518A>T p.N1173I Missense 29/66 - 1
15-48779350-A-G c.3511T>C p.C1171R Missense 29/66 - 2
15-48779352-C-T c.3509G>A p.R1170H Missense 29/66 - 8
15-48779353-G-A c.3508C>T p.R1170C Missense 29/66 - 2
15-48779355-C-A c.3506G>T p.G1169V Missense 29/66 - 1
15-48779365-A-G c.3496T>C p.C1166R Missense 29/66 - 1
15-48779379-AG-TA c.3481_3482delinsTA p.L1161* Nonsense 29/66 - 1
15-48779386-A-C c.3475T>G p.C1159G Missense 29/66 - 1
15-48779389-C-A c.3472G>T p.E1158* Nonsense 29/66 - 1
15-48779390-ATT-TTA c.3469_3471delinsTAA p.N1157* Nonsense 29/66 - 1
15-48779397-T-C c.3464A>G p.D1155G Missense 29/66 - 1
15-48779402-C-T c.3464-5G>A - IntronicSNV - 28/65 5
15-48779506-T-C c.3463+3A>G - IntronicSNV - 28/65 1
15-48779506-T-G c.3463+3A>C - IntronicSNV - 28/65 1
15-48779508-C-A c.3463+1G>T - IntronicSNV - 28/65 1
15-48779509-C-T c.3463G>A p.D1155N Missense 28/66 - 3
15-48779514-C-T c.3458G>A p.C1153Y Missense 28/66 - 2
15-48779517-G-A c.3455C>T p.A1152V Missense 28/66 - 1
15-48779530-G-A c.3442C>T p.P1148S Missense 28/66 - 2
15-48779530-G-C c.3442C>G p.P1148A Missense 28/66 - 12
15-48779535-A-C c.3437T>G p.L1146R Missense 28/66 - 1
15-48779531-G-GGACAGCTGAA c.3440_3441insTTCAGCTGTC p.P1148Sfs*14 Frameshift 28/66 - 1
15-48779544-C-T c.3428G>A p.G1143D Missense 28/66 - 1
15-48779550-G-A c.3422C>T p.P1141L Missense 28/66 - 3
15-48779560-A-G c.3412T>C p.C1138R Missense 28/66 - 2
15-48779562-C-G c.3410G>C p.R1137P Missense 28/66 - 1
15-48779576-CT-C c.3396del p.E1133Rfs*29 Frameshift 28/66 - 1
15-48779581-T-A c.3391A>T p.N1131Y Missense 28/66 - 2
15-48779583-TG-T c.3388del p.H1130Ifs*32 Frameshift 28/66 - 1
15-48779586-C-T c.3386G>A p.C1129Y Missense 28/66 - 3
15-48779590-C-T c.3382G>A p.V1128I Missense 28/66 - 1
15-48779593-C-A c.3379G>T p.G1127C Missense 28/66 - 1
15-48779593-C-T c.3379G>A p.G1127S Missense 28/66 - 5
15-48779598-C-T c.3374G>A p.R1125Q Missense 28/66 - 1
15-48779599-G-A c.3373C>T p.R1125* Nonsense 28/66 - 2
15-48779620-G-A c.3352C>T p.Q1118* Nonsense 28/66 - 1
15-48779622-C-T c.3350G>A p.C1117Y Missense 28/66 - 4
15-48779623-A-G c.3349T>C p.C1117R Missense 28/66 - 1
15-48779626-C-G c.3346G>C p.E1116Q Missense 28/66 - 1
15-48779628-T-C c.3344A>G p.D1115G Missense 28/66 - 3
15-48779634-T-C c.3338A>G p.D1113G Missense 28/66 - 4
15-48780207-G-A c.3337+103C>T - IntronicSNV - 27/65 2
15-48780309-C-T c.3337+1G>A - IntronicSNV - 27/65 1
15-48780315-C-T c.3332G>A p.C1111Y Missense 27/66 - 2
15-48780316-A-G c.3331T>C p.C1111R Missense 27/66 - 3
15-48780345-T-C c.3302A>G p.Y1101C Missense 27/66 - 5
15-48780348-C-A c.3299G>T p.G1100V Missense 27/66 - 3
15-48780348-C-T c.3299G>A p.G1100D Missense 27/66 - 1
15-48780352-C-A c.3295G>T p.E1099* Nonsense 27/66 - 1
15-48780353-G-A c.3294C>T p.D1098= Synonymous 27/66 - 1
15-48780357-C-T c.3290G>A p.C1097Y Missense 27/66 - 1
15-48780363-C-G c.3284G>C p.C1095S Missense 27/66 - 1
15-48780367-CA-C c.3279del p.F1093Lfs*14 Frameshift 27/66 - 1
15-48780379-G-A c.3268C>T p.P1090S Missense 27/66 - 1
15-48780381-G-T c.3266C>A p.T1089N Missense 27/66 - 1
15-48780390-C-T c.3257G>A p.C1086Y Missense 27/66 - 1
15-48780391-A-G c.3256T>C p.C1086R Missense 27/66 - 1
15-48780397-C-G c.3250G>C p.G1084R Missense 27/66 - 1
15-48780403-C-A c.3244G>T p.G1082C Missense 27/66 - 2
15-48780406-A-C c.3241T>G p.C1081G Missense 27/66 - 1
15-48780409-G-C c.3238C>G p.L1080V Missense 27/66 - 1
15-48780422-G-A c.3225C>T p.R1075= Synonymous 27/66 - 1
15-48780422-G-C c.3225C>G p.R1075= Synonymous 27/66 - 1
15-48780422-GCG-TCA c.3223_3225delinsTGA p.R1075* Nonsense 27/66 - 1
15-48780422-G-T c.3225C>A p.R1075= Synonymous 27/66 - 1
15-48780426-C-T c.3221G>A p.C1074Y Missense 27/66 - 2
15-48780428-T-A c.3219A>T p.E1073D Missense 27/66 - 2
15-48780428-T-G c.3219A>C p.E1073D Missense 27/66 - 1
15-48780430-C-A c.3217G>T p.E1073* Nonsense 27/66 - 1
15-48780430-C-T c.3217G>A p.E1073K Missense 27/66 - 5
15-48780430-TC-T c.3217del p.E1073Nfs*15 Frameshift 27/66 - 1
15-48780435-A-C c.3212T>G p.I1071S Missense 27/66 - 2
15-48780436-T-C c.3211A>G p.I1071V Missense 27/66 - 1
15-48780438-T-C c.3209A>G p.D1070G Missense 27/66 - 3
15-48780563-A-T c.3208+2T>A - IntronicSNV - 26/65 1
15-48780571-A-G c.3202T>C p.C1068R Missense 26/66 - 1
15-48780576-C-G c.3197G>C p.R1066T Missense 26/66 - 1
15-48780585-G-C c.3188C>G p.S1063C Missense 26/66 - 1
15-48780595-C-T c.3178G>A p.A1060T Missense 26/66 - 1
15-48780600-C-A c.3173G>T p.G1058V Missense 26/66 - 2
15-48780609-C-T c.3164G>A p.C1055Y Missense 26/66 - 1
15-48780611-C-A c.3162G>T p.R1054S Missense 26/66 - 1
15-48780615-C-T c.3158G>A p.C1053Y Missense 26/66 - 1
15-48780616-A-G c.3157T>C p.C1053R Missense 26/66 - 2
15-48780621-A-C c.3152T>G p.F1051C Missense 26/66 - 1
15-48780625-T-A c.3148A>T p.S1050C Missense 26/66 - 1
15-48780628-C-T c.3145G>A p.G1049S Missense 26/66 - 2
15-48780630-A-G c.3143T>C p.I1048T Missense 26/66 - 6
15-48780631-T-C c.3142A>G p.I1048V Missense 26/66 - 1
15-48780642-C-T c.3131G>A p.C1044Y Missense 26/66 - 1
15-48780645-T-C c.3128A>G p.K1043R Missense 26/66 - 2
15-48780648-C-T c.3125G>A p.G1042D Missense 26/66 - 1
15-48780649-C-G c.3124G>C p.G1042R Missense 26/66 - 1
15-48780650-G-A c.3123C>T p.H1041= Synonymous 26/66 - 1
15-48780657-C-T c.3116G>A p.C1039Y Missense 26/66 - 3
15-48780658-A-C c.3115T>G p.C1039G Missense 26/66 - 113
15-48780666-G-T c.3107C>A p.P1036H Missense 26/66 - 1
15-48780678-C-T c.3095G>A p.C1032Y Missense 26/66 - 3
15-48780682-C-T c.3091G>A p.E1031K Missense 26/66 - 1
15-48780684-T-C c.3089A>G p.N1030S Missense 26/66 - 3
15-48780690-T-C c.3083A>G p.D1028G Missense 26/66 - 1
15-48782061-C-A c.3069G>T p.K1023N Missense 25/66 - 2
15-48782066-C-A c.3064G>T p.G1022* Nonsense 25/66 - 2
15-48782072-T-C c.3058A>G p.T1020A Missense 25/66 - 5
15-48782083-TG-T c.3047del p.T1016Kfs*19 Frameshift 25/66 - 1
15-48782087-C-CA c.3042dup p.A1015Cfs*17 Frameshift 25/66 - 1
15-48782093-C-G c.3037G>C p.G1013R Missense 25/66 - 1
15-48782093-C-T c.3037G>A p.G1013R Missense 25/66 - 9
15-48782104-G-C c.3026C>G p.P1009R Missense 25/66 - 1
15-48782118-G-C c.3012C>G p.Y1004* Nonsense 25/66 - 1
15-48782118-G-T c.3012C>A p.Y1004* Nonsense 25/66 - 1
15-48782128-G-GT c.3001dup p.T1001Nfs*3 Frameshift 25/66 - 1
15-48782143-C-T c.2987G>A p.C996Y Missense 25/66 - 1
15-48782144-A-G c.2986T>C p.C996R Missense 25/66 - 1
15-48782150-C-A c.2980G>T p.E994* Nonsense 25/66 - 1
15-48782151-G-A c.2979C>T p.C993= Synonymous 25/66 - 1
15-48782174-C-T c.2956G>A p.A986T Missense 25/66 - 5
15-48782176-C-T c.2954G>A p.G985E Missense 25/66 - 1
15-48782177-C-T c.2953G>A p.G985R Missense 25/66 - 4
15-48782178-G-T c.2952C>A p.V984= Synonymous 25/66 - 1
15-48782180-C-A c.2950G>T p.V984F Missense 25/66 - 1
15-48782180-C-T c.2950G>A p.V984I Missense 25/66 - 3
15-48782182-G-A c.2948C>T p.S983F Missense 25/66 - 1
15-48782203-C-T c.2927G>A p.R976H Missense 25/66 - 4
15-48782204-G-A c.2926C>T p.R976C Missense 25/66 - 1
15-48782210-G-A c.2920C>T p.R974C Missense 25/66 - 1
15-48782227-GT-CA c.2902_2903delinsTG p.T968C Missense 25/66 - 1
15-48782234-C-A c.2896G>T p.E966* Nonsense 25/66 - 1
15-48782235-C-T c.2895G>A p.E965= Synonymous 25/66 - 1
15-48782238-G-A c.2892C>T p.D964= Synonymous 25/66 - 2
15-48782243-C-G c.2887G>C p.E963Q Missense 25/66 - 1
15-48782244-G-C c.2886C>G p.Y962* Nonsense 25/66 - 1
15-48782269-C-A c.2861G>T p.R954L Missense 25/66 - 1
15-48782269-C-T c.2861G>A p.R954H Missense 25/66 - 1
15-48782270-G-A c.2860C>T p.R954C Missense 25/66 - 4
15-48782563-T-A c.2855-288A>T - IntronicSNV - 24/65 2
15-48782563-T-C c.2855-288A>G - IntronicSNV - 24/65 2
15-48784497-T-C c.2854+161A>G - IntronicSNV - 24/65 1
15-48784660-A-AC c.2851_2852insG p.L951Rfs*2 Frameshift 24/66 - 1
15-48784664-A-G c.2848T>C p.C950R Missense 24/66 - 1
15-48784683-CAA-C c.2827_2828del p.L943Gfs*9 Frameshift 24/66 - 1
15-48784688-T-C c.2824A>G p.T942A Missense 24/66 - 1
15-48784693-C-A c.2819G>T p.G940V Missense 24/66 - 1
15-48784702-C-T c.2810G>A p.C937Y Missense 24/66 - 2
15-48784717-G-A c.2795C>T p.S932L Missense 24/66 - 1
15-48784731-AAC-CAT c.2779_2781delinsATG p.V927M Missense 24/66 - 1
15-48784735-C-T c.2777G>A p.C926Y Missense 24/66 - 1
15-48784751-A-G c.2761T>C p.C921R Missense 24/66 - 1
15-48784752-C-T c.2760G>A p.V920= Synonymous 24/66 - 1
15-48784766-C-T c.2746G>A p.V916M Missense 24/66 - 1
15-48784772-A-G c.2740T>C p.C914R Missense 24/66 - 1
15-48784774-T-G c.2738A>C p.E913A Missense 24/66 - 1
15-48786401-C-G c.2728G>C p.D910H Missense 23/66 - 2
15-48786401-C-T c.2728G>A p.D910N Missense 23/66 - 1
15-48786406-C-A c.2723G>T p.C908F Missense 23/66 - 1
15-48786406-C-T c.2723G>A p.C908Y Missense 23/66 - 1
15-48786407-A-G c.2722T>C p.C908R Missense 23/66 - 3
15-48786427-G-C c.2702C>G p.S901* Nonsense 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 1
15-48787315-C-G c.2677+5G>C - IntronicSNV - 22/65 1
15-48787328-C-T c.2669G>A p.C890Y Missense 22/66 - 1
15-48787348-C-T c.2649G>A p.W883* Nonsense 22/66 - 3
15-48787349-C-A c.2648G>T p.W883L Missense 22/66 - 1
15-48787349-C-T c.2648G>A p.W883* Nonsense 22/66 - 3
15-48787350-A-G c.2647T>C p.W883R Missense 22/66 - 1
15-48787350-A-T c.2647T>A p.W883R Missense 22/66 - 1
15-48787352-G-A c.2645C>T p.A882V Missense 22/66 - 4
15-48787358-C-T c.2639G>A p.G880D Missense 22/66 - 1
15-48787359-C-T c.2638G>A p.G880S Missense 22/66 - 5
15-48787370-C-A c.2627G>T p.C876F Missense 22/66 - 1
15-48787371-A-G c.2626T>C p.C876R Missense 22/66 - 1
15-48787374-A-G c.2623T>C p.C875R Missense 22/66 - 1
15-48787374-A-T c.2623T>A p.C875S Missense 22/66 - 1
15-48787382-T-C c.2615A>G p.K872R Missense 22/66 - 1
15-48787384-T-A c.2613A>T p.L871F Missense 22/66 - 1
15-48787384-T-G c.2613A>C p.L871F Missense 22/66 - 4
15-48787389-TG-T c.2607del p.T870Pfs*2 Frameshift 22/66 - 1
15-48787411-A-C c.2586T>G p.C862W Missense 22/66 - 1
15-48787412-C-T c.2585G>A p.C862Y Missense 22/66 - 1
15-48787413-A-G c.2584T>C p.C862R Missense 22/66 - 1
15-48787416-G-A c.2581C>T p.R861* Nonsense 22/66 - 5
15-48787667-CT-C c.2538del p.I846Mfs*26 Frameshift 21/66 - 1
15-48787707-GA-AC c.2497_2498delinsGT p.S833V Missense 21/66 - 1
15-48787709-A-C c.2496T>G p.C832W Missense 21/66 - 1
15-48787710-C-G c.2495G>C p.C832S Missense 21/66 - 1
15-48787710-C-T c.2495G>A p.C832Y Missense 21/66 - 2
15-48787716-C-A c.2489G>T p.C830F Missense 21/66 - 1
15-48787716-C-T c.2489G>A p.C830Y Missense 21/66 - 1
15-48787732-G-C c.2473C>G p.P825A Missense 21/66 - 1
15-48787735-CT-C c.2470del p.S824Afs*23 Frameshift 21/66 - 1
15-48787743-C-T c.2462G>A p.C821Y Missense 21/66 - 1
15-48787754-A-C c.2451T>G p.I817M Missense 21/66 - 1
15-48787758-C-A c.2447G>T p.C816F Missense 21/66 - 1
15-48787759-A-G c.2446T>C p.C816R Missense 21/66 - 1
15-48787772-G-C c.2433C>G p.C811W Missense 21/66 - 1
15-48787773-C-T c.2432G>A p.C811Y Missense 21/66 - 1
15-48787774-AT-A c.2430del p.E810Dfs*37 Frameshift 21/66 - 1
15-48787785-GT-G c.2420del p.D807Afs*40 Frameshift 21/66 - 1
15-48788296-C-T c.2419+1G>A - IntronicSNV - 20/65 1
15-48788302-C-T c.2414G>A p.C805Y Missense 20/66 - 1
15-48788303-A-G c.2413T>C p.C805R Missense 20/66 - 1
15-48788311-AG-TA c.2404_2405delinsTA p.L802* Nonsense 20/66 - 1
15-48788341-C-A c.2375G>T p.C792F Missense 20/66 - 1
15-48788342-AG-A c.2373del p.C792Afs*11 Frameshift 20/66 - 1
15-48788346-A-AG c.2369_2370insC p.T791Yfs*11 Frameshift 20/66 - 1
15-48788347-C-A c.2369G>T p.C790F Missense 20/66 - 1
15-48788347-C-T c.2369G>A p.C790Y Missense 20/66 - 1
15-48788348-A-T c.2368T>A p.C790S Missense 20/66 - 3
15-48788353-A-T c.2363T>A p.F788Y Missense 20/66 - 1
15-48788351-C-CA c.2364dup p.V789Cfs*13 Frameshift 20/66 - 1
15-48788369-T-G c.2347A>C p.N783H Missense 20/66 - 1
15-48788375-A-G c.2341T>C p.C781R Missense 20/66 - 1
15-48788390-A-C c.2326T>G p.C776G Missense 20/66 - 2
15-48788410-C-T c.2306G>A p.C769Y Missense 20/66 - 2
15-48788411-A-C c.2305T>G p.C769G Missense 20/66 - 1
15-48788414-C-T c.2302G>A p.E768K Missense 20/66 - 1
15-48789463-C-T c.2293G>A p.D765N Missense 19/66 - 1
15-48789481-T-G c.2275A>C p.T759P Missense 19/66 - 1
15-48789487-C-G c.2269G>C p.D757H Missense 19/66 - 1
15-48789495-T-C c.2261A>G p.Y754C Missense 19/66 - 4
15-48789496-A-G c.2260T>C p.Y754H Missense 19/66 - 1
15-48789501-G-A c.2255C>T p.S752L Missense 19/66 - 1
15-48789508-A-C c.2248T>G p.C750G Missense 19/66 - 3
15-48789508-A-G c.2248T>C p.C750R Missense 19/66 - 1
15-48789513-C-T c.2243G>A p.C748Y Missense 19/66 - 2
15-48789525-C-T c.2231G>A p.G744E Missense 19/66 - 2
15-48789528-C-A c.2228G>T p.R743L Missense 19/66 - 1
15-48789533-GT-G c.2222del p.N741Tfs*31 Frameshift 19/66 - 1
15-48789540-C-T c.2216G>A p.C739Y Missense 19/66 - 2
15-48789541-A-G c.2215T>C p.C739R Missense 19/66 - 1
15-48789549-T-C c.2207A>G p.N736S Missense 19/66 - 1
15-48789555-C-A c.2201G>T p.C734F Missense 19/66 - 1
15-48789576-C-T c.2180G>A p.C727Y Missense 19/66 - 3
15-48789577-A-G c.2179T>C p.C727R Missense 19/66 - 1
15-48789577-A-T c.2179T>A p.C727S Missense 19/66 - 1
15-48789588-T-A c.2168A>T p.D723V Missense 19/66 - 1
15-48789588-T-G c.2168A>C p.D723A Missense 19/66 - 1
15-48789634-T-C c.2168-46A>G - IntronicSNV - 18/65 3
15-48791187-C-T c.2162G>A p.G721D Missense 18/66 - 1
15-48791199-AT-TA c.2149_2150delinsTA p.M717* Nonsense 18/66 - 2
15-48791217-C-T c.2132G>A p.C711Y Missense 18/66 - 2
15-48791223-G-T c.2126C>A p.A709E Missense 18/66 - 1
15-48791224-C-T c.2125G>A p.A709T Missense 18/66 - 1
15-48791235-G-C c.2114C>G p.A705G Missense 18/66 - 1
15-48792444-A-G c.2114-1209T>C - IntronicSNV - 17/65 1
15-48795512-G-A c.2113+472C>T - IntronicSNV - 17/65 1
15-48795984-C-T c.2113G>A p.A705T Missense 17/66 - 1
15-48795990-T-G c.2107A>C p.N703H Missense 17/66 - 2
15-48796004-G-A c.2093C>T p.P698L Missense 17/66 - 1
15-48796007-T-C c.2090A>G p.Q697R Missense 17/66 - 1
15-48796007-TG-T c.2089del p.Q697Sfs*21 Frameshift 17/66 - 1
15-48796009-G-T c.2088C>A p.C696* Nonsense 17/66 - 1
15-48796014-G-A c.2083C>T p.P695S Missense 17/66 - 1
15-48796041-C-T c.2056G>A p.A686T Missense 17/66 - 2
15-48796042-G-C c.2055C>G p.C685W Missense 17/66 - 2
15-48796048-G-T c.2049C>A p.C683* Nonsense 17/66 - 2
15-48796053-C-T c.2044G>A p.E682K Missense 17/66 - 1
15-48796070-CCAAA-C c.2023_2026del p.F675Vfs*42 Frameshift 17/66 - 1
15-48796092-G-A c.2005C>T p.Q669* Nonsense 17/66 - 1
15-48796099-C-A c.1998G>T p.K666N Missense 17/66 - 1
15-48796099-C-G c.1998G>C p.K666N Missense 17/66 - 1
15-48796100-T-C c.1997A>G p.K666R Missense 17/66 - 1
15-48796102-G-T c.1995C>A p.Y665* Nonsense 17/66 - 2
15-48796113-A-G c.1984T>C p.Y662H Missense 17/66 - 1
15-48796115-C-T c.1982G>A p.C661Y Missense 17/66 - 1
15-48796116-A-G c.1981T>C p.C661R 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 2
15-48797220-AC-A c.1960+1del - IntronicDeletion 16/66 - 1
15-48797227-C-A c.1955G>T p.C652F Missense 16/66 - 1
15-48797227-C-T c.1955G>A p.C652Y Missense 16/66 - 1
15-48797234-G-A c.1948C>T p.R650C Missense 16/66 - 1
15-48797266-C-G c.1916G>C p.C639S Missense 16/66 - 1
15-48797266-C-T c.1916G>A p.C639Y Missense 16/66 - 4
15-48797267-A-T c.1915T>A p.C639S Missense 16/66 - 1
15-48797272-C-T c.1910G>A p.C637Y Missense 16/66 - 1
15-48797273-A-G c.1909T>C p.C637R Missense 16/66 - 2
15-48797274-T-A c.1908A>T p.R636S Missense 16/66 - 1
15-48797274-T-G c.1908A>C p.R636S Missense 16/66 - 1
15-48797275-C-A c.1907G>T p.R636I Missense 16/66 - 1
15-48797276-T-C c.1906A>G p.R636G Missense 16/66 - 2
15-48797278-T-C c.1904A>G p.Y635C Missense 16/66 - 1
15-48797282-A-G c.1900T>C p.S634P Missense 16/66 - 1
15-48797292-G-A c.1890C>T p.N630= Synonymous 16/66 - 1
15-48797292-G-T c.1890C>A p.N630K Missense 16/66 - 1
15-48797298-G-T c.1884C>A p.C628* Nonsense 16/66 - 3
15-48797299-C-T c.1883G>A p.C628Y Missense 16/66 - 1
15-48797303-G-A c.1879C>T p.R627C Missense 16/66 - 9
15-48797307-A-G c.1875T>C p.N625= Synonymous 16/66 - 9
15-48797307-A-T c.1875T>A p.N625K Missense 16/66 - 3
15-48797314-C-G c.1868G>C p.C623S Missense 16/66 - 1
15-48797315-A-T c.1867T>A p.C623S Missense 16/66 - 1
15-48797324-G-A c.1858C>T p.P620S Missense 16/66 - 1
15-48797333-A-G c.1849T>C p.C617R Missense 16/66 - 1
15-48797336-C-G c.1846G>C p.E616Q Missense 16/66 - 1
15-48797336-C-T c.1846G>A p.E616K Missense 16/66 - 2
15-48797337-GT-G c.1844del p.N615Tfs*10 Frameshift 16/66 - 1
15-48799348-T-C c.1837+1431A>G - IntronicSNV - 15/65 1
15-48799348-T-G c.1837+1431A>C - IntronicSNV - 15/65 1
15-48800791-G-A c.1825C>T p.R609C Missense 15/66 - 4
15-48800792-T-A c.1824A>T p.G608= Synonymous 15/66 - 2
15-48800792-T-C c.1824A>G p.G608= Synonymous 15/66 - 2
15-48800792-T-G c.1824A>C p.G608= Synonymous 15/66 - 2
15-48800795-A-G c.1821T>C p.D607= Synonymous 15/66 - 1
15-48800822-G-C c.1794C>G p.C598W Missense 15/66 - 1
15-48800822-G-T c.1794C>A p.C598* Nonsense 15/66 - 1
15-48800823-C-A c.1793G>T p.C598F Missense 15/66 - 1
15-48800830-A-C c.1786T>G p.C596G Missense 15/66 - 2
15-48800830-A-G c.1786T>C p.C596R Missense 15/66 - 2
15-48800840-GC-CT c.1775_1776delinsAG p.G592E Missense 15/66 - 1
15-48800841-C-T c.1775G>A p.G592D Missense 15/66 - 1
15-48800856-C-T c.1760G>A p.C587Y Missense 15/66 - 1
15-48800857-A-C c.1759T>G p.C587G Missense 15/66 - 1
15-48800857-A-G c.1759T>C p.C587R Missense 15/66 - 2
15-48800862-C-T c.1754G>A p.G585E Missense 15/66 - 1
15-48800868-AG-A c.1747del p.N584Mfs*41 Frameshift 15/66 - 1
15-48800876-GTTCCT-G c.1735_1739del p.R579Hfs*4 Frameshift 15/66 - 1
15-48800882-T-TA c.1733dup p.R579Kfs*6 Frameshift 15/66 - 1
15-48800883-AT-TA c.1732_1733delinsTA p.I578* Nonsense 15/66 - 1
15-48800889-C-T c.1727G>A p.C576Y Missense 15/66 - 1
15-48801935-C-T c.1714+306G>A - IntronicSNV - 14/65 1
15-48802242-TTCACAGTTCTTCCCA-T c.1698_1712del p.D566_C570del InFrameDeletion 14/66 - 1
15-48802246-C-G c.1709G>C p.C570S Missense 14/66 - 1
15-48802246-C-T c.1709G>A p.C570Y Missense 14/66 - 1
15-48802247-A-C c.1708T>G p.C570G Missense 14/66 - 1
15-48802247-A-G c.1708T>C p.C570R Missense 14/66 - 3
15-48802256-C-G c.1699G>C p.G567R Missense 14/66 - 1
15-48802262-G-A c.1693C>T p.R565* Nonsense 14/66 - 4
15-48802291-C-A c.1664G>T p.C555F Missense 14/66 - 1
15-48802296-A-T c.1659T>A p.F553L Missense 14/66 - 1
15-48802307-CTG-C c.1646_1647del p.T549Rfs*9 Frameshift 14/66 - 1
15-48802312-T-A c.1643A>T p.N548I Missense 14/66 - 3
15-48802311-GT-G c.1643del p.N548Tfs*31 Frameshift 14/66 - 1
15-48802322-G-A c.1633C>T p.R545C Missense 14/66 - 10
15-48802330-T-C c.1625A>G p.N542S Missense 14/66 - 2
15-48802333-C-A c.1622G>T p.C541F Missense 14/66 - 1
15-48802333-C-T c.1622G>A p.C541Y Missense 14/66 - 1
15-48802354-C-T c.1601G>A p.C534Y Missense 14/66 - 1
15-48802359-ATC-TTA c.1594_1596delinsTAA p.D532* Nonsense 14/66 - 1
15-48802360-T-C c.1595A>G p.D532G Missense 14/66 - 1
15-48802363-A-C c.1592T>G p.I531S Missense 14/66 - 1
15-48802366-T-C c.1589A>G p.D530G Missense 14/66 - 2
15-48803839-T-C c.1589-1473A>G - IntronicSNV - 13/65 1
15-48803919-T-A c.1589-1553A>T - IntronicSNV - 13/65 1
15-48803919-T-G c.1589-1553A>C - IntronicSNV - 13/65 1
15-48805637-G-A c.1588+109C>T - IntronicSNV - 13/65 1
15-48805746-C-T c.1588G>A p.D530N Missense 13/66 - 1
15-48805748-C-T c.1586G>A p.R529Q Missense 13/66 - 1
15-48805749-G-A c.1585C>T p.R529* Nonsense 13/66 - 7
15-48805751-C-A c.1583G>T p.C528F Missense 13/66 - 1
15-48805751-CA-GG c.1582_1583delinsCC p.C528P Missense 13/66 - 1
15-48805751-C-T c.1583G>A p.C528Y Missense 13/66 - 1
15-48805763-G-T c.1571C>A p.T524K Missense 13/66 - 1
15-48805780-T-TC c.1553dup p.Y519Ifs*14 Frameshift 13/66 - 1
15-48805788-G-A c.1546C>T p.R516* Nonsense 13/66 - 1
15-48805796-C-T c.1538G>A p.C513Y Missense 13/66 - 1
15-48805802-T-C c.1532A>G p.Y511C Missense 13/66 - 1
15-48805824-A-G c.1510T>C p.C504R Missense 13/66 - 2
15-48805827-C-A c.1507G>T p.E503* Nonsense 13/66 - 1
15-48805835-G-A c.1499C>T p.A500V Missense 13/66 - 1
15-48805838-C-G c.1496G>C p.C499S Missense 13/66 - 2
15-48805838-C-T c.1496G>A p.C499Y Missense 13/66 - 1
15-48805839-A-T c.1495T>A p.C499S Missense 13/66 - 1
15-48805843-G-C c.1491C>G p.N497K Missense 13/66 - 1
15-48805843-G-T c.1491C>A p.N497K Missense 13/66 - 1
15-48805844-TT-GC c.1489_1490delinsGC p.N497A Missense 13/66 - 3
15-48805853-C-T c.1481G>A p.C494Y Missense 13/66 - 3
15-48807579-C-T c.1468+5G>A - IntronicSNV - 12/65 3
15-48807584-C-A c.1468G>T p.D490Y Missense 12/66 - 1
15-48807589-CA-GT c.1462_1463delinsAC p.C488T Missense 12/66 - 1
15-48807589-C-T c.1463G>A p.C488Y Missense 12/66 - 1
15-48807596-C-A c.1456G>T p.G486W Missense 12/66 - 2
15-48807598-C-G c.1454G>C p.R485P Missense 12/66 - 1
15-48807599-G-A c.1453C>T p.R485C Missense 12/66 - 4
15-48807599-G-T c.1453C>A p.R485S Missense 12/66 - 1
15-48807625-C-T c.1427G>A p.C476Y Missense 12/66 - 1
15-48807626-A-C c.1426T>G p.C476G Missense 12/66 - 1
15-48807626-A-T c.1426T>A p.C476S Missense 12/66 - 1
15-48807630-A-C c.1422T>G p.C474W Missense 12/66 - 1
15-48807631-C-T c.1421G>A p.C474Y Missense 12/66 - 1
15-48807636-G-T c.1416C>A p.C472* Nonsense 12/66 - 1
15-48807637-C-T c.1415G>A p.C472Y Missense 12/66 - 4
15-48807638-A-G c.1414T>C p.C472R Missense 12/66 - 1
15-48807650-T-C c.1402A>G p.T468A Missense 12/66 - 1
15-48807673-CAG-C c.1377_1378del p.C460Sfs*15 Frameshift 12/66 - 1
15-48807678-A-T c.1374T>A p.Y458* Nonsense 12/66 - 1
15-48807681-G-C c.1371C>G p.R457= Synonymous 12/66 - 1
15-48807683-G-A c.1369C>T p.R457C Missense 12/66 - 3
15-48807707-C-T c.1345G>A p.V449I Missense 12/66 - 2
15-48807713-AC-A c.1339del p.V447* Frameshift 12/66 - 1
15-48807715-GG-CC c.1336_1337inv p.P446G Missense 12/66 - 1
15-48807720-CAC-GAT c.1330_1332delinsATC p.V444I Missense 12/66 - 1
15-48808379-C-T c.1327+1G>A - IntronicSNV - 11/65 1
15-48808398-G-A c.1309C>T p.P437S Missense 11/66 - 1
15-48808405-A-C c.1302T>G p.Y434* Nonsense 11/66 - 2
15-48808405-A-T c.1302T>A p.Y434* Nonsense 11/66 - 2
15-48808404-GAT-G c.1301_1302del p.Y434Sfs*17 Frameshift 11/66 - 1
15-48808413-C-T c.1294G>A p.V432M Missense 11/66 - 1
15-48808421-C-G c.1286G>C p.R429P Missense 11/66 - 1
15-48808422-G-A c.1285C>T p.R429* Nonsense 11/66 - 3
15-48808487-C-T c.1220G>A p.G407D Missense 11/66 - 1
15-48808509-C-T c.1198G>A p.E400K Missense 11/66 - 1
15-48808532-G-C c.1175C>G p.P392R Missense 11/66 - 1
15-48808536-C-T c.1171G>A p.V391I Missense 11/66 - 1
15-48808538-G-A c.1169C>T p.S390F Missense 11/66 - 3
15-48808540-GCA-G c.1165_1166del p.C389Lfs*62 Frameshift 11/66 - 1
15-48808547-T-C c.1160A>G p.K387R 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
15-48810499-G-T c.1148-1940C>A - IntronicSNV - 10/65 2
15-48812020-A-G c.1147+836T>C - IntronicSNV - 10/65 3
15-48812020-A-T c.1147+836T>A - IntronicSNV - 10/65 3
15-48812854-TAC-T c.1147+1_1147+2del - SpliceDonorDeletion - 10/65 1
15-48812858-GT-CC c.1144_1145delinsGG p.T382G Missense 10/66 - 1
15-48812873-C-T c.1130G>A p.C377Y Missense 10/66 - 1
15-48812874-A-T c.1129T>A p.C377S Missense 10/66 - 1
15-48812886-C-A c.1117G>T p.A373S Missense 10/66 - 1
15-48812893-G-GC c.1109_1110insG p.T371Hfs*5 Frameshift 10/66 - 1
15-48812905-C-A c.1098G>T p.W366C Missense 10/66 - 1
15-48812905-C-G c.1098G>C p.W366C Missense 10/66 - 1
15-48812908-G-T c.1095C>A p.C365* Nonsense 10/66 - 1
15-48812910-A-G c.1093T>C p.C365R Missense 10/66 - 1
15-48812913-G-A c.1090C>T p.R364* Nonsense 10/66 - 5
15-48812912-CG-C c.1090del p.R364Dfs*31 Frameshift 10/66 - 1
15-48812976-C-G c.1027G>C p.G343R Missense 10/66 - 2
15-48812976-C-T c.1027G>A p.G343R Missense 10/66 - 6
15-48812996-C-G c.1007G>C p.C336S Missense 10/66 - 1
15-48812997-A-T c.1006T>A p.C336S Missense 10/66 - 1
15-48813009-G-A c.994C>T p.R332C Missense 10/66 - 1
15-48813010-A-C c.993T>G p.V331= Synonymous 10/66 - 1
15-48813010-A-G c.993T>C p.V331= Synonymous 10/66 - 1
15-48813010-A-T c.993T>A p.V331= Synonymous 10/66 - 1
15-48817429-A-C c.988+898T>G - IntronicSNV - 9/65 1
15-48817429-A-G c.988+898T>C - IntronicSNV - 9/65 1
15-48818328-T-TA c.986dup p.D330Rfs*18 Frameshift 9/66 - 1
15-48818329-A-G c.986T>C p.I329T Missense 9/66 - 2
15-48818329-AT-TA c.985_986delinsTA p.I329* Nonsense 9/66 - 1
15-48818334-TCT-CCA c.979_981delinsTGG p.R327W Missense 9/66 - 1
15-48818335-C-T c.980G>A p.R327K Missense 9/66 - 2
15-48818335-CT-TG c.979_980delinsCA p.R327Q Missense 9/66 - 1
15-48818377-C-A c.938G>T p.C313F Missense 9/66 - 1
15-48818402-T-C c.913A>G p.T305A Missense 9/66 - 1
15-48818404-C-A c.911G>T p.C304F Missense 9/66 - 1
15-48818418-A-C c.897T>G p.C299W Missense 9/66 - 1
15-48818444-C-A c.871G>T p.E291* Nonsense 9/66 - 1
15-48818452-AT-A c.863del p.D288Vfs*42 Frameshift 9/66 - 1
15-48818452-T-C c.863A>G p.D288G Missense 9/66 - 1
15-48819502-G-A c.863-1050C>T - IntronicSNV - 8/65 3
15-48820068-T-A c.863-1616A>T - IntronicSNV - 8/65 1
15-48820068-T-C c.863-1616A>G - IntronicSNV - 8/65 1
15-48822780-G-T c.862+3497C>A - IntronicSNV - 8/65 1
15-48826279-T-C c.860A>G p.E287G Missense 8/66 - 1
15-48826300-T-G c.839A>C p.N280T Missense 8/66 - 2
15-48826304-G-A c.835C>T p.L279F Missense 8/66 - 1
15-48826309-T-A c.830A>T p.H277L Missense 8/66 - 1
15-48826326-G-C c.813C>G p.C271W Missense 8/66 - 1
15-48826326-G-T c.813C>A p.C271* Nonsense 8/66 - 1
15-48826328-A-G c.811T>C p.C271R Missense 8/66 - 1
15-48826342-AC-TA c.796_797delinsTA p.V266Y Missense 8/66 - 1
15-48826344-A-AATAC c.794_795insGTAT p.V266Yfs*6 Frameshift 8/66 - 1
15-48826347-ATT-TTA c.790_792delinsTAA p.N264* Nonsense 8/66 - 1
15-48826349-TA-T c.789del p.N264Ifs*66 Frameshift 8/66 - 1
15-48826367-G-A c.772C>T p.Q258* Nonsense 8/66 - 1
15-48826388-G-A c.751C>T p.Q251* Nonsense 8/66 - 1
15-48826394-C-A c.745G>T p.E249* 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 2
15-48827144-T-C c.737-742A>G - IntronicSNV - 7/65 1
15-48829808-C-T c.736G>A p.D246N Missense 7/66 - 1
15-48829810-TG-GA c.733_734delinsTC p.Q245S Missense 7/66 - 1
15-48829811-G-T c.733C>A p.Q245K Missense 7/66 - 1
15-48829811-G-GA c.732dup p.Q245Sfs*5 Frameshift 7/66 - 1
15-48829817-C-T c.727G>A p.A243T Missense 7/66 - 1
15-48829825-C-T c.719G>A p.R240H Missense 7/66 - 1
15-48829826-G-A c.718C>T p.R240C Missense 7/66 - 8
15-48829837-A-T c.707T>A p.I236N Missense 7/66 - 1
15-48829846-C-T c.698G>A p.R233H Missense 7/66 - 3
15-48829847-G-C c.697C>G p.R233G Missense 7/66 - 1
15-48829848-GCG-CTC c.694_696delinsGAG p.R232E Missense 7/66 - 1
15-48829856-G-C c.688C>G p.P230A Missense 7/66 - 1
15-48829867-G-A c.677C>T p.A226V Missense 7/66 - 2
15-48829870-GG-AA c.673_674delinsTT p.P225F Missense 7/66 - 1
15-48829873-C-T c.671G>A p.C224Y Missense 7/66 - 1
15-48829881-A-AC c.662dup p.C221Wfs*2 Frameshift 7/66 - 1
15-48829895-A-C c.649T>G p.W217G Missense 7/66 - 1
15-48829900-C-T c.644G>A p.R215Q Missense 7/66 - 2
15-48829901-G-A c.643C>T p.R215* Nonsense 7/66 - 3
15-48829904-C-A c.640G>T p.G214C Missense 7/66 - 1
15-48829904-C-T c.640G>A p.G214S Missense 7/66 - 10
15-48829912-G-C c.632C>G p.A211G Missense 7/66 - 1
15-48829915-C-T c.629G>A p.C210Y Missense 7/66 - 1
15-48829918-C-A c.626G>T p.C209F Missense 7/66 - 1
15-48829918-C-T c.626G>A p.C209Y Missense 7/66 - 1
15-48829933-C-G c.611G>C p.C204S Missense 7/66 - 1
15-48829934-A-T c.610T>A p.C204S Missense 7/66 - 2
15-48829965-C-T c.579G>A p.Q193= Synonymous 7/66 - 1
15-48829967-G-A c.577C>T p.Q193* Nonsense 7/66 - 1
15-48829987-C-T c.557G>A p.C186Y Missense 7/66 - 1
15-48829988-A-G c.556T>C p.C186R Missense 7/66 - 2
15-48829999-CT-TC c.544_545delinsGA p.R182E Missense 7/66 - 1
15-48830135-C-G c.539-130G>C - IntronicSNV - 6/65 1
15-48834860-A-G c.539-4855T>C - IntronicSNV - 6/65 1
15-48835355-T-C c.539-5350A>G - IntronicSNV - 6/65 1
15-48835935-C-T c.539-5930G>A - 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
15-48843598-C-T c.539-13593G>A - IntronicSNV - 6/65 1
15-48847733-T-A c.539-17728A>T - IntronicSNV - 6/65 4
15-48847733-T-C c.539-17728A>G - IntronicSNV - 6/65 4
15-48849728-C-T c.539-19723G>A - IntronicSNV - 6/65 1
15-48850657-C-G c.539-20652G>C - IntronicSNV - 6/65 2
15-48858921-C-T c.539-28916G>A - IntronicSNV - 6/65 1
15-48858971-G-T c.539-28966C>A - IntronicSNV - 6/65 1
15-48859733-A-G c.538+28747T>C - 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 2
15-48864797-C-G c.538+23683G>C - IntronicSNV - 6/65 2
15-48864797-C-T c.538+23683G>A - IntronicSNV - 6/65 2
15-48870456-C-T c.538+18024G>A - IntronicSNV - 6/65 1
15-48876157-C-T c.538+12323G>A - IntronicSNV - 6/65 1
15-48881833-T-A c.538+6647A>T - IntronicSNV - 6/65 1
15-48881833-T-C c.538+6647A>G - IntronicSNV - 6/65 1
15-48882966-A-C c.538+5514T>G - IntronicSNV - 6/65 1
15-48883158-C-A c.538+5322G>T - IntronicSNV - 6/65 1
15-48883696-T-C c.538+4784A>G - 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
15-48888476-T-C c.538+4A>G - IntronicSNV - 6/65 1
15-48888480-C-T c.538G>A p.D180N Missense 6/66 - 1
15-48888488-C-T c.530G>A p.C177Y Missense 6/66 - 1
15-48888489-A-G c.529T>C p.C177R Missense 6/66 - 2
15-48888490-C-T c.528G>A p.Q176= Synonymous 6/66 - 1
15-48888492-G-A c.526C>T p.Q176* Nonsense 6/66 - 1
15-48888500-G-T c.518C>A p.T173N Missense 6/66 - 1
15-48888508-G-A c.510C>T p.Y170= Synonymous 6/66 - 1
15-48888509-TA-T c.508del p.Y170Tfs*20 Frameshift 6/66 - 1
15-48888515-CA-GT c.502_503delinsAC p.C168T Missense 6/66 - 1
15-48888525-G-A c.493C>T p.R165* Nonsense 6/66 - 1
15-48888525-G-C c.493C>G p.R165G Missense 6/66 - 1
15-48888527-T-C c.491A>G p.N164S Missense 6/66 - 5
15-48888534-C-T c.484G>A p.A162T Missense 6/66 - 1
15-48888542-CT-GC c.475_476delinsGC p.R159A Missense 6/66 - 1
15-48888542-CT-TG c.475_476delinsCA p.R159Q Missense 6/66 - 1
15-48888988-A-T c.443-413T>A - IntronicSNV - 5/65 1
15-48890399-C-A c.443-1824G>T - IntronicSNV - 5/65 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 3
15-48892335-C-T c.442+1G>A - IntronicSNV - 5/65 2
15-48892336-G-A c.442C>T p.P148S Missense 5/66 - 2
15-48892344-C-T c.434G>A p.C145Y Missense 5/66 - 1
15-48892345-A-G c.433T>C p.C145R Missense 5/66 - 1
15-48892361-T-A c.417A>T p.G139= Synonymous 5/66 - 1
15-48892364-TTT-GTC c.412_414delinsGAC p.K138D Missense 5/66 - 1
15-48892372-A-C c.406T>G p.C136G Missense 5/66 - 1
15-48892373-TAGAC-T c.401_404del p.C134Yfs*7 Frameshift 5/66 - 1
15-48892377-C-G c.401G>C p.C134S Missense 5/66 - 1
15-48892378-A-G c.400T>C p.C134R Missense 5/66 - 2
15-48892379-AG-A c.399del p.C134Vfs*8 Frameshift 5/66 - 2
15-48892380-T-C c.398A>G p.H133R Missense 5/66 - 1
15-48892380-T-G c.398A>C p.H133P Missense 5/66 - 1
15-48892392-C-T c.386G>A p.C129Y Missense 5/66 - 3
15-48892394-G-C c.384C>G p.S128R Missense 5/66 - 1
15-48892394-GCT-TCA c.382_384delinsTGA p.S128* Nonsense 5/66 - 1
15-48892394-G-T c.384C>A p.S128R Missense 5/66 - 1
15-48892396-T-G c.382A>C p.S128R Missense 5/66 - 1
15-48892396-T-C c.382A>G p.S128G Missense 5/66 - 1
15-48892397-A-T c.381T>A p.G127= Synonymous 5/66 - 1
15-48892400-TCC-GCT c.376_378delinsAGC p.G126S Missense 5/66 - 1
15-48892410-C-T c.368G>A p.C123Y Missense 5/66 - 1
15-48892411-A-G c.367T>C p.C123R Missense 5/66 - 1
15-48892412-GC-TT c.365_366delinsAA p.R122Q Missense 5/66 - 1
15-48892414-G-A c.364C>T p.R122C Missense 5/66 - 6
15-48892415-A-C c.363T>G p.I121M Missense 5/66 - 1
15-48892939-C-T c.347-508G>A - IntronicSNV - 4/65 1
15-48893649-T-C c.347-1218A>G - IntronicSNV - 4/65 2
15-48894200-A-T c.347-1769T>A - IntronicSNV - 4/65 1
15-48895567-C-CTT c.347-3137_347-3136insAA - IntronicInsertion - 4/65 1
15-48896830-T-C c.347-4399A>G - IntronicSNV - 4/65 1
15-48897282-C-T c.347-4851G>A - IntronicSNV - 4/65 1
15-48897416-G-A c.347-4985C>T - IntronicSNV - 4/65 1
15-48899745-A-G c.346+3180T>C - IntronicSNV - 4/65 1
15-48900586-T-C c.346+2339A>G - IntronicSNV - 4/65 6
15-48901389-T-C c.346+1536A>G - IntronicSNV - 4/65 1
15-48901420-C-G c.346+1505G>C - IntronicSNV - 4/65 1
15-48901420-C-T c.346+1505G>A - IntronicSNV - 4/65 1
15-48902925-T-TCA c.345_346insTG p.I116* SpliceDonorInsertion 4/66 - 1
15-48902952-T-A c.319A>T p.I107L Missense 4/66 - 2
15-48902952-T-G c.319A>C p.I107L Missense 4/66 - 2
15-48902955-G-A c.316C>T p.Q106* Nonsense 4/66 - 1
15-48902962-T-TG c.308dup p.S104Ifs*25 Frameshift 4/66 - 1
15-48902965-G-A c.306C>T p.C102= Synonymous 4/66 - 1
15-48902966-CA-GT c.304_305delinsAC p.C102T Missense 4/66 - 1
15-48902966-C-T c.305G>A p.C102Y Missense 4/66 - 1
15-48902968-A-G c.303T>C p.T101= Synonymous 4/66 - 1
15-48902981-G-C c.290C>G p.P97R Missense 4/66 - 1
15-48902987-G-A c.284C>T p.S95L Missense 4/66 - 1
15-48902987-G-C c.284C>G p.S95W Missense 4/66 - 1
15-48902987-G-T c.284C>A p.S95* Nonsense 4/66 - 2
15-48902990-C-A c.281G>T p.C94F Missense 4/66 - 1
15-48902999-T-G c.272A>C p.D91A Missense 4/66 - 1
15-48903003-C-G c.268G>C p.G90R Missense 4/66 - 1
15-48903003-C-T c.268G>A p.G90R Missense 4/66 - 1
15-48903005-C-A c.266G>T p.C89F Missense 4/66 - 1
15-48903012-TG-T c.259del p.H87Ifs*21 Frameshift 4/66 - 1
15-48903126-A-G c.248-103T>C - IntronicSNV - 3/65 2
15-48903126-A-T c.248-103T>A - IntronicSNV - 3/65 2
15-48905198-T-C c.247+9A>G - IntronicSNV - 3/65 1
15-48905206-C-A c.247+1G>T - IntronicSNV - 3/65 1
15-48905206-C-G c.247+1G>C - IntronicSNV - 3/65 1
15-48905206-C-T c.247+1G>A - IntronicSNV - 3/65 1
15-48905207-G-A c.247C>T p.P83S Missense 3/66 - 1
15-48905209-A-C c.245T>G p.V82G Missense 3/66 - 1
15-48905218-T-A c.236A>T p.Q79L Missense 3/66 - 1
15-48905219-G-A c.235C>T p.Q79* Nonsense 3/66 - 1
15-48905225-C-T c.229G>A p.G77R Missense 3/66 - 2
15-48905231-G-T c.223C>A p.P75T Missense 3/66 - 1
15-48905233-A-T c.221T>A p.L74* Nonsense 3/66 - 1
15-48905235-GGT-TTA c.217_219delinsTAA p.T73* Nonsense 3/66 - 1
15-48905241-C-A c.213G>T p.W71C Missense 3/66 - 1
15-48905241-C-G c.213G>C p.W71C Missense 3/66 - 1
15-48905242-C-G c.212G>C p.W71S Missense 3/66 - 1
15-48905243-A-G c.211T>C p.W71R Missense 3/66 - 1
15-48905243-A-T c.211T>A p.W71R Missense 3/66 - 1
15-48905245-C-A c.209G>T p.G70V Missense 3/66 - 1
15-48905250-G-T c.204C>A p.C68* Nonsense 3/66 - 1
15-48905251-CA-TC c.202_203delinsGA p.C68D Missense 3/66 - 1
15-48905251-C-T c.203G>A p.C68Y Missense 3/66 - 2
15-48905257-T-C c.197A>G p.Y66C Missense 3/66 - 1
15-48905261-C-T c.193G>A p.A65T Missense 3/66 - 1
15-48905266-T-C c.188A>G p.Y63C Missense 3/66 - 2
15-48905269-CG-GC c.184_185delinsGC p.R62A Missense 3/66 - 1
15-48905269-C-T c.185G>A p.R62H Missense 3/66 - 3
15-48905270-G-A c.184C>T p.R62C Missense 3/66 - 6
15-48905274-TC-GT c.179_180delinsAC p.G60D Missense 3/66 - 1
15-48905279-A-G c.175T>C p.C59R Missense 3/66 - 1
15-48905285-T-C c.169A>G p.N57D Missense 3/66 - 1
15-48905816-T-C c.165-527A>G - IntronicSNV - 2/65 1
15-48906577-A-G c.165-1288T>C - IntronicSNV - 2/65 1
15-48910240-A-G c.165-4951T>C - IntronicSNV - 2/65 2
15-48912623-C-T c.165-7334G>A - IntronicSNV - 2/65 1
15-48914775-T-C c.165-9486A>G - IntronicSNV - 2/65 2
15-48914926-A-G c.165-9637T>C - IntronicSNV - 2/65 12
15-48915884-T-C c.165-10595A>G - IntronicSNV - 2/65 14
15-48918821-G-C c.165-13532C>G - IntronicSNV - 2/65 1
15-48919103-A-C c.165-13814T>G - IntronicSNV - 2/65 1
15-48922360-C-T c.164+14443G>A - IntronicSNV - 2/65 2
15-48925115-G-C c.164+11688C>G - IntronicSNV - 2/65 1
15-48926002-G-A c.164+10801C>T - IntronicSNV - 2/65 1
15-48926202-T-C c.164+10601A>G - IntronicSNV - 2/65 1
15-48926415-G-A c.164+10388C>T - 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 2
15-48931451-T-C c.164+5352A>G - IntronicSNV - 2/65 2
15-48933499-A-G c.164+3304T>C - IntronicSNV - 2/65 1
15-48933821-C-G c.164+2982G>C - IntronicSNV - 2/65 1
15-48933821-C-T c.164+2982G>A - IntronicSNV - 2/65 1
15-48934628-C-A c.164+2175G>T - IntronicSNV - 2/65 1
15-48934858-A-AC c.164+1944dup - IntronicInsertion - 2/65 1
15-48936803-CC-GT c.163_164delinsAC p.G55T Missense 2/66 - 1
15-48936803-C-T c.164G>A p.G55E Missense 2/66 - 1
15-48936811-CGC-AAA c.154_156delinsTTT p.A52F Missense 2/66 - 1
15-48936809-AGC-A c.156_157del p.L53* Frameshift 2/66 - 1
15-48936822-C-T c.145G>A p.G49R Missense 2/66 - 1
15-48936828-C-T c.139G>A p.G47S Missense 2/66 - 1
15-48936842-G-C c.125C>G p.A42G Missense 2/66 - 1
15-48936848-C-T c.119G>A p.S40N Missense 2/66 - 1
15-48936851-G-T c.116C>A p.A39D Missense 2/66 - 1
15-48936855-T-C c.112A>G p.R38G Missense 2/66 - 1
15-48936867-C-A c.100G>T p.V34L Missense 2/66 - 4
15-48936867-C-G c.100G>C p.V34L Missense 2/66 - 4
15-48936869-T-G c.98A>C p.N33T Missense 2/66 - 2
15-48936884-T-C c.83A>G p.N28S Missense 2/66 - 1
15-48936888-C-T c.79G>A p.A27T Missense 2/66 - 3
15-48936894-C-T c.73G>A p.A25T Missense 2/66 - 1
15-48936902-CT-GC c.64_65delinsGC p.S22A Missense 2/66 - 1
15-48936903-T-A c.64A>T p.S22C Missense 2/66 - 1
15-48936908-T-C c.59A>G p.Y20C Missense 2/66 - 3
15-48936910-GGA-CTC c.55_57delinsGAG p.S19E Missense 2/66 - 1
15-48936911-G-A c.56C>T p.S19F Missense 2/66 - 1
15-48936911-GA-TC c.55_56inv p.S19D Missense 2/66 - 1
15-48936911-GA-TG c.55_56delinsCA p.S19H Missense 2/66 - 1
15-48936911-G-C c.56C>G p.S19C Missense 2/66 - 1
15-48936912-A-C c.55T>G p.S19A Missense 2/66 - 2
15-48936929-AA-GC c.37_38delinsGC p.F13A Missense 2/66 - 1
15-48936932-C-A c.35G>T p.G12V Missense 2/66 - 1
15-48936938-GC-AA c.28_29delinsTT p.A10F Missense 2/66 - 1
15-48936952-A-G c.15T>C p.R5= Synonymous 2/66 - 1
15-48936954-G-A c.13C>T p.R5C Missense 2/66 - 1
15-48936960-G-A c.7C>T p.R3* Nonsense 2/66 - 1
15-48936961-A-C c.6T>G p.R2= Synonymous 2/66 - 5
15-48936961-A-G c.6T>C p.R2= Synonymous 2/66 - 5
15-48936961-A-T c.6T>A p.R2= Synonymous 2/66 - 5
15-48936964-C-A c.3G>T p.M1? Missense 2/66 - 1
15-48936964-C-T c.3G>A p.M1? Missense 2/66 - 1
15-48937339-G-A c.-181-192C>T - IntronicSNV - 1/65 1
15-48937339-G-T c.-181-192C>A - IntronicSNV - 1/65 1