FBN1 fibrillin 1

Canonical transcript: NM_000138

831 unique variant annotations were identified in 329 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 - 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
15-48703536-C-T c.8267G>A p.Trp2756* Nonsense 66/66 - 1
15-48703535-C-T c.8268G>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-T c.8226+1G>A - IntronicSNV - 65/65 3
15-48704765-C-A c.8226+1G>T - IntronicSNV - 65/65 2
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-GG-G c.6997+18del - IntronicDeletion - 57/65 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
15-48720553-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-T c.6888G>A p.Gln2296Gln Synonymous 57/66 - 1
15-48720652-C-A c.6888G>T p.Gln2296His Missense 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-T c.6007G>A p.Gly2003Arg Missense 49/66 - 3
15-48736768-C-G c.6007G>C 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-T c.5872T>A p.Cys1958Ser Missense 48/66 - 1
15-48737618-A-G c.5872T>C p.Cys1958Arg 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-T c.5788G>A p.Asp1930Asn Missense 47/66 - 1
15-48738903-C-G c.5788G>C p.Asp1930His Missense 47/66 - 2
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-T c.5250T>A p.Ser1750Arg Missense 43/66 - 3
15-48752489-A-C c.5250T>G p.Ser1750Arg Missense 43/66 - 3
15-48752491-T-G c.5248A>C p.Ser1750Arg Missense 43/66 - 3
15-48752489-GACT-G c.5248_5250del p.Ser1750del InFrameDeletion 43/66 - 1
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
15-48752497-A-T c.5242T>A p.Cys1748Ser Missense 43/66 - 1
15-48752497-A-G c.5242T>C p.Cys1748Arg Missense 43/66 - 4
15-48752496-C-G c.5243G>C 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-T c.5198G>A p.Cys1733Tyr Missense 42/66 - 1
15-48755305-C-A c.5198G>T p.Cys1733Phe 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-T c.5084G>A p.Cys1695Tyr Missense 42/66 - 2
15-48755419-C-A c.5084G>T p.Cys1695Phe Missense 42/66 - 1
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-C-G c.5015G>C p.Cys1672Ser Missense 41/66 - 1
15-48756146-AC-A c.5015del p.Cys1672Leufs*10 Frameshift 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-AC-CA c.4890_4891delinsTG p.Gln1630_Cys1631delinsHisGly MultiAAMissense 40/66 - 1
15-48757816-A-C c.4891T>G p.Cys1631Gly Missense 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-C-T c.4781G>A p.Gly1594Asp Missense 39/66 - 1
15-48758022-CC-AA c.4780_4781delinsTT p.Gly1594Phe Missense 39/66 - 2
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-G c.4460A>C p.Asp1487Ala Missense 37/66 - 1
15-48760731-T-C c.4460A>G p.Asp1487Gly 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-T c.4437C>A p.Asp1479Glu Missense 36/66 - 1
15-48762853-G-C c.4437C>G 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-TT c.4081_4082delinsAA p.Cys1361Asn Missense 33/66 - 1
15-48766730-C-T c.4082G>A p.Cys1361Tyr Missense 33/66 - 1
15-48766730-CA-AA c.4082delinsT p.Cys1361Phe 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
15-48779317-A-T c.3544T>A p.Cys1182Ser Missense 29/66 - 1
15-48779316-C-G c.3545G>C 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
15-48782167-C-T c.2963G>A p.Trp988* Nonsense 25/66 - 1
15-48782166-C-T c.2964G>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-C c.2855-288A>G - IntronicSNV - 24/65 1
15-48782563-T-A c.2855-288A>T - 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-T c.2740T>A p.Cys914Ser Missense 24/66 - 1
15-48784772-A-G c.2740T>C p.Cys914Arg 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-T c.2678-15C>A - IntronicSNV - 22/65 3
15-48786466-G-A c.2678-15C>T - IntronicSNV - 22/65 1
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-T c.1875T>A p.Asn625Lys Missense 16/66 - 1
15-48797307-A-G c.1875T>C p.Asn625Asn Synonymous 16/66 - 5
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-G c.1786T>C p.Cys596Arg Missense 15/66 - 1
15-48800830-A-C c.1786T>G p.Cys596Gly 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-G c.1708T>C p.Cys570Arg Missense 14/66 - 2
15-48802247-A-C c.1708T>G p.Cys570Gly Missense 14/66 - 1
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-T c.1491C>A p.Asn497Lys Missense 13/66 - 1
15-48805843-G-C c.1491C>G 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-T c.1147+836T>A - IntronicSNV - 10/65 2
15-48812020-A-G c.1147+836T>C - 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-G c.1098G>C p.Trp366Cys Missense 10/66 - 1
15-48812905-C-A c.1098G>T 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-G c.986T>C p.Ile329Thr Missense 9/66 - 2
15-48818329-AT-TA c.985_986delinsTA p.Ile329* Nonsense 9/66 - 1
15-48818329-A-AA c.986dup p.Asp330Argfs*18 Frameshift 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-T c.813C>A p.Cys271* Nonsense 8/66 - 1
15-48826326-G-C c.813C>G p.Cys271Trp Missense 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-G c.538+27193T>C - IntronicSNV - 6/65 1
15-48861287-A-C c.538+27193T>G - 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-T c.538+23683G>A - IntronicSNV - 6/65 2
15-48864797-C-G c.538+23683G>C - 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-C-T c.305G>A p.Cys102Tyr Missense 4/66 - 1
15-48902966-CA-AC c.304_305delinsGT p.Cys102Val Missense 4/66 - 1
15-48902968-A-G c.303T>C p.Thr101Thr Synonymous 4/66 - 1
15-48902987-G-T c.284C>A p.Ser95* Nonsense 4/66 - 1
15-48902987-G-C c.284C>G p.Ser95Trp Missense 4/66 - 1
15-48902999-T-G c.272A>C p.Asp91Ala Missense 4/66 - 1
15-48903003-C-T c.268G>A p.Gly90Arg Missense 4/66 - 1
15-48903003-C-G c.268G>C 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-G c.213G>C p.Trp71Cys Missense 3/66 - 1
15-48905241-C-A c.213G>T 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-G c.100G>C p.Val34Leu Missense 2/66 - 2
15-48936867-C-A c.100G>T 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