TLN2

TLN2 talin 2

Annotation transcript: NM_015059.3

2496 unique variant annotations were identified in 630 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
15-62939512-G-A c.3G>A p.M1? Missense 1/56 - 1
15-62939512-G-C c.3G>C p.M1? Missense 1/56 - 1
15-62939512-G-T c.3G>T p.M1? Missense 1/56 - 1
15-62939516-G-A c.7G>A p.A3T Missense 1/56 - 1
15-62939518-C-T c.9C>T p.A3= Synonymous 1/56 - 1
15-62939520-T-A c.11T>A p.L4Q Missense 1/56 - 1
15-62939530-G-A c.21G>A p.K7= Synonymous 1/56 - 1
15-62939532-T-G c.23T>G p.I8S Missense 1/56 - 1
15-62939537-GTG-ATC c.28_30delinsATC p.V10I Missense 1/56 - 1
15-62939539-G-A c.30G>A p.V10= Synonymous 1/56 - 1
15-62939539-G-C c.30G>C p.V10= Synonymous 1/56 - 1
15-62939539-G-T c.30G>T p.V10= Synonymous 1/56 - 1
15-62939540-C-G c.31C>G p.R11G Missense 1/56 - 1
15-62939540-C-T c.31C>T p.R11C Missense 1/56 - 7
15-62939541-G-A c.32G>A p.R11H Missense 1/56 - 3
15-62939543-C-T c.34C>T p.H12Y Missense 1/56 - 1
15-62939548-C-A c.39C>A p.C13* Nonsense 1/56 - 1
15-62939551-C-T c.42C>T p.N14= Synonymous 1/56 - 2
15-62939552-G-C c.43G>C p.V15L Missense 1/56 - 2
15-62939552-G-T c.43G>T p.V15L Missense 1/56 - 2
15-62939557-G-A c.48G>A p.V16= Synonymous 1/56 - 1
15-62939558-A-T c.49A>T p.K17* Nonsense 1/56 - 1
15-62939561-AC-GA c.52_53delinsGA p.T18D Missense 1/56 - 1
15-62939561-A-G c.52A>G p.T18A Missense 1/56 - 1
15-62939562-C-A c.53C>A p.T18N Missense 1/56 - 1
15-62939562-CC-TG c.53_54delinsTG p.T18M Missense 1/56 - 1
15-62939562-C-T c.53C>T p.T18I Missense 1/56 - 1
15-62939564-A-T c.55A>T p.M19L Missense 1/56 - 1
15-62939567-C-T c.58C>T p.Q20* Nonsense 1/56 - 1
15-62939569-G-A c.60G>A p.Q20= Synonymous 1/56 - 1
15-62939571-T-A c.62T>A p.F21Y Missense 1/56 - 1
15-62939575-A-G c.66A>G p.E22= Synonymous 1/56 - 1
15-62939579-TC-GG c.70_71delinsGG p.S24G Missense 1/56 - 2
15-62939585-G-C c.76G>C p.A26P Missense 1/56 - 1
15-62939585-GC-TA c.76_77delinsTA p.A26Y Missense 1/56 - 2
15-62939586-C-G c.77C>G p.A26G Missense 1/56 - 2
15-62939589-T-C c.80T>C p.V27A Missense 1/56 - 2
15-62939592-A-G c.83A>G p.Y28C Missense 1/56 - 1
15-62939593-C-A c.84C>A p.Y28* Nonsense 1/56 - 3
15-62939593-C-G c.84C>G p.Y28* Nonsense 1/56 - 4
15-62939594-G-A c.85G>A p.D29N Missense 1/56 - 1
15-62939594-G-C c.85G>C p.D29H Missense 1/56 - 1
15-62939594-G-T c.85G>T p.D29Y Missense 1/56 - 1
15-62939596-T-C c.87T>C p.D29= Synonymous 1/56 - 1
15-62939598-C-A c.89C>A p.A30E Missense 1/56 - 1
15-62939598-C-T c.89C>T p.A30V Missense 1/56 - 2
15-62939599-G-A c.90G>A p.A30= Synonymous 1/56 - 4
15-62939599-G-C c.90G>C p.A30= Synonymous 1/56 - 3
15-62939599-G-T c.90G>T p.A30= Synonymous 1/56 - 3
15-62939603-C-G c.94C>G p.R32G Missense 1/56 - 1
15-62939603-C-T c.94C>T p.R32* Nonsense 1/56 - 1
15-62939604-G-A c.95G>A p.R32Q Missense 1/56 - 2
15-62939606-G-A c.97G>A p.V33I Missense 1/56 - 1
15-62939606-G-C c.97G>C p.V33L Missense 1/56 - 1
15-62939608-C-A c.99C>A p.V33= Synonymous 1/56 - 1
15-62939608-C-G c.99C>G p.V33= Synonymous 1/56 - 1
15-62939608-C-T c.99C>T p.V33= Synonymous 1/56 - 2
15-62939612-C-T c.103C>T p.R35W Missense 1/56 - 2
15-62939616-A-G c.107A>G p.E36G Missense 1/56 - 2
15-62939618-C-T c.109C>T p.R37W Missense 1/56 - 2
15-62939619-G-A c.110G>A p.R37Q Missense 1/56 - 1
15-62939619-G-T c.110G>T p.R37L Missense 1/56 - 3
15-62939626-T-A c.117T>A p.P39= Synonymous 1/56 - 1
15-62939627-G-A c.118G>A p.E40K Missense 1/56 - 4
15-62939627-G-C c.118G>C p.E40Q Missense 1/56 - 1
15-62939630-G-A c.121G>A p.A41T Missense 1/56 - 1
15-62939632-A-C c.123A>C p.A41= Synonymous 1/56 - 1
15-62939632-A-G c.123A>G p.A41= Synonymous 1/56 - 1
15-62939632-A-T c.123A>T p.A41= Synonymous 1/56 - 1
15-62939633-C-T c.124C>T p.Q42* Nonsense 1/56 - 1
15-62939637-C-T c.128C>T p.T43I Missense 1/56 - 1
15-62939640-G-T c.131G>T p.G44V Missense 1/56 - 1
15-62939644-A-C c.135A>C p.Q45H Missense 1/56 - 1
15-62939644-A-T c.135A>T p.Q45H Missense 1/56 - 1
15-62939645-G-C c.136G>C p.A46P Missense 1/56 - 1
15-62939645-G-T c.136G>T p.A46S Missense 1/56 - 1
15-62939711-GAGAC-G c.136+70_136+73del - IntronicDeletion - 1/55 1
15-62940095-TA-T c.136+459del - IntronicDeletion - 1/55 1
15-62942286-C-G c.140C>G p.S47C Missense 2/56 - 1
15-62942288-G-C c.142G>C p.D48H Missense 2/56 - 3
15-62942295-G-A c.149G>A p.G50E Missense 2/56 - 1
15-62942298-T-C c.152T>C p.L51P Missense 2/56 - 1
15-62942299-C-T c.153C>T p.L51= Synonymous 2/56 - 1
15-62942303-C-A c.157C>A p.L53I Missense 2/56 - 1
15-62942303-C-T c.157C>T p.L53F Missense 2/56 - 4
15-62942307-C-T c.161C>T p.S54L Missense 2/56 - 2
15-62942308-G-A c.162G>A p.S54= Synonymous 2/56 - 1
15-62942317-C-T c.171C>T p.D57= Synonymous 2/56 - 2
15-62942318-C-T c.172C>T p.P58S Missense 2/56 - 1
15-62942320-G-A c.174G>A p.P58= Synonymous 2/56 - 2
15-62942320-G-C c.174G>C p.P58= Synonymous 2/56 - 1
15-62942320-G-T c.174G>T p.P58= Synonymous 2/56 - 1
15-62942321-AG-CA c.175_176delinsCA p.R59Q Missense 2/56 - 1
15-62942322-G-T c.176G>T p.R59M Missense 2/56 - 1
15-62942327-G-A c.181G>A p.G61R Missense 2/56 - 2
15-62942330-A-C c.184A>C p.I62L Missense 2/56 - 2
15-62942332-T-G c.186T>G p.I62M Missense 2/56 - 2
15-62942333-T-A c.187T>A p.W63R Missense 2/56 - 1
15-62942333-T-C c.187T>C p.W63R Missense 2/56 - 2
15-62942334-G-A c.188G>A p.W63* Nonsense 2/56 - 2
15-62942334-G-T c.188G>T p.W63L Missense 2/56 - 1
15-62942335-G-A c.189G>A p.W63* Nonsense 2/56 - 3
15-62942336-C-T c.190C>T p.L64= Synonymous 2/56 - 1
15-62942338-G-A c.192G>A p.L64= Synonymous 2/56 - 1
15-62942338-G-C c.192G>C p.L64= Synonymous 2/56 - 1
15-62942338-G-T c.192G>T p.L64= Synonymous 2/56 - 1
15-62942339-G-C c.193G>C p.E65Q Missense 2/56 - 1
15-62942340-A-C c.194A>C p.E65A Missense 2/56 - 1
15-62942342-G-A c.196G>A p.A66T Missense 2/56 - 4
15-62942342-G-C c.196G>C p.A66P Missense 2/56 - 1
15-62942343-C-A c.197C>A p.A66E Missense 2/56 - 1
15-62942343-C-T c.197C>T p.A66V Missense 2/56 - 1
15-62942344-G-A c.198G>A p.A66= Synonymous 2/56 - 1
15-62942344-G-C c.198G>C p.A66= Synonymous 2/56 - 1
15-62942344-G-T c.198G>T p.A66= Synonymous 2/56 - 1
15-62942348-A-T c.202A>T p.R68* Nonsense 2/56 - 1
15-62942349-G-C c.203G>C p.R68T Missense 2/56 - 1
15-62942354-C-G c.208C>G p.L70V Missense 2/56 - 1
15-62942357-G-A c.211G>A p.D71N Missense 2/56 - 1
15-62942357-G-C c.211G>C p.D71H Missense 2/56 - 1
15-62942357-G-T c.211G>T p.D71Y Missense 2/56 - 1
15-62942361-A-G c.215A>G p.Y72C Missense 2/56 - 1
15-62942363-T-A c.217T>A p.Y73N Missense 2/56 - 1
15-62942363-T-C c.217T>C p.Y73H Missense 2/56 - 2
15-62942364-A-G c.218A>G p.Y73C Missense 2/56 - 2
15-62942367-T-G c.221T>G p.M74R Missense 2/56 - 2
15-62942372-C-G c.226C>G p.R76G Missense 2/56 - 3
15-62942372-C-T c.226C>T p.R76W Missense 2/56 - 4
15-62942373-G-A c.227G>A p.R76Q Missense 2/56 - 2
15-62942378-G-A c.232G>A p.G78R Missense 2/56 - 1
15-62942378-G-C c.232G>C p.G78R Missense 2/56 - 1
15-62942379-G-T c.233G>T p.G78V Missense 2/56 - 1
15-62942380-G-A c.234G>A p.G78= Synonymous 2/56 - 1
15-62942380-G-C c.234G>C p.G78= Synonymous 2/56 - 1
15-62942380-G-T c.234G>T p.G78= Synonymous 2/56 - 1
15-62944204-G-C c.235G>C p.D79H Missense 3/56 - 1
15-62944214-A-C c.245A>C p.E82A Missense 3/56 - 1
15-62944224-G-C c.255G>C p.K85N Missense 3/56 - 1
15-62944224-G-T c.255G>T p.K85N Missense 3/56 - 1
15-62944231-A-T c.262A>T p.R88* Nonsense 3/56 - 1
15-62944232-G-A c.263G>A p.R88K Missense 3/56 - 1
15-62944235-C-T c.266C>T p.P89L Missense 3/56 - 1
15-62944237-C-G c.268C>G p.Q90E Missense 3/56 - 2
15-62944238-A-T c.269A>T p.Q90L Missense 3/56 - 3
15-62944239-G-C c.270G>C p.Q90H Missense 3/56 - 1
15-62944239-G-T c.270G>T p.Q90H Missense 3/56 - 1
15-62944241-A-T c.272A>T p.K91I Missense 3/56 - 1
15-62944242-A-G c.273A>G p.K91= Synonymous 3/56 - 1
15-62944245-C-A c.276C>A p.I92= Synonymous 3/56 - 1
15-62944245-C-T c.276C>T p.I92= Synonymous 3/56 - 2
15-62944246-C-T c.277C>T p.R93W Missense 3/56 - 3
15-62944247-G-A c.278G>A p.R93Q Missense 3/56 - 1
15-62944251-G-A c.282G>A p.M94I Missense 3/56 - 1
15-62944251-G-C c.282G>C p.M94I Missense 3/56 - 1
15-62944251-G-T c.282G>T p.M94I Missense 3/56 - 1
15-62944255-G-A c.286G>A p.D96N Missense 3/56 - 2
15-62944261-TC-AA c.292_293delinsAA p.S98N Missense 3/56 - 1
15-62944264-G-A c.295G>A p.V99M Missense 3/56 - 2
15-62944265-T-G c.296T>G p.V99G Missense 3/56 - 1
15-62944266-G-A c.297G>A p.V99= Synonymous 3/56 - 1
15-62944266-G-C c.297G>C p.V99= Synonymous 3/56 - 1
15-62944266-G-T c.297G>T p.V99= Synonymous 3/56 - 1
15-62944279-G-T c.310G>T p.V104L Missense 3/56 - 1
15-62944282-G-A c.313G>A p.D105N Missense 3/56 - 2
15-62944285-G-A c.316G>A p.D106N Missense 3/56 - 3
15-62944294-A-G c.325A>G p.T109A Missense 3/56 - 1
15-62944295-C-T c.326C>T p.T109I Missense 3/56 - 1
15-62944295-CT-TG c.326_327delinsTG p.T109M Missense 3/56 - 1
15-62944297-G-C c.328G>C p.V110L Missense 3/56 - 1
15-62944297-G-T c.328G>T p.V110L Missense 3/56 - 1
15-62944298-T-C c.329T>C p.V110A Missense 3/56 - 1
15-62944301-G-C c.332G>C p.G111A Missense 3/56 - 1
15-62944305-G-A c.336G>A p.E112= Synonymous 3/56 - 1
15-62944305-G-C c.336G>C p.E112D Missense 3/56 - 1
15-62944309-C-T c.340C>T p.L114= Synonymous 3/56 - 1
15-62944311-G-A c.342G>A p.L114= Synonymous 3/56 - 1
15-62944311-G-C c.342G>C p.L114= Synonymous 3/56 - 1
15-62944311-G-T c.342G>T p.L114= Synonymous 3/56 - 1
15-62944312-G-A c.343G>A p.V115I Missense 3/56 - 1
15-62944312-G-C c.343G>C p.V115L Missense 3/56 - 1
15-62944314-C-A c.345C>A p.V115= Synonymous 3/56 - 1
15-62944314-C-G c.345C>G p.V115= Synonymous 3/56 - 1
15-62944314-C-T c.345C>T p.V115= Synonymous 3/56 - 1
15-62944321-TG-AC c.352_353delinsAC p.C118T Missense 3/56 - 1
15-62944323-T-C c.354T>C p.C118= Synonymous 3/56 - 1
15-62944325-G-A c.356G>A p.S119N Missense 3/56 - 1
15-62944327-A-G c.358A>G p.R120G Missense 3/56 - 2
15-62944327-AGA-TGT c.358_360delinsTGT p.R120C Missense 3/56 - 2
15-62944448-G-C c.364+115G>C - IntronicSNV - 3/55 2
15-62944533-G-C c.364+200G>C - IntronicSNV - 3/55 1
15-62944547-T-G c.364+214T>G - IntronicSNV - 3/55 1
15-62945361-G-T c.365G>T p.G122V Missense 4/56 - 1
15-62945365-A-C c.369A>C p.I123= Synonymous 4/56 - 1
15-62945365-A-T c.369A>T p.I123= Synonymous 4/56 - 1
15-62945374-T-A c.378T>A p.Y126* Nonsense 4/56 - 1
15-62945374-T-G c.378T>G p.Y126* Nonsense 4/56 - 1
15-62945378-G-A c.382G>A p.E128K Missense 4/56 - 1
15-62945378-G-C c.382G>C p.E128Q Missense 4/56 - 1
15-62945381-T-C c.385T>C p.Y129H Missense 4/56 - 1
15-62945382-A-C c.386A>C p.Y129S Missense 4/56 - 1
15-62945384-TC-CG c.388_389delinsCG p.S130R Missense 4/56 - 1
15-62945385-C-T c.389C>T p.S130F Missense 4/56 - 1
15-62945386-C-A c.390C>A p.S130= Synonymous 4/56 - 1
15-62945386-C-G c.390C>G p.S130= Synonymous 4/56 - 1
15-62945386-C-T c.390C>T p.S130= Synonymous 4/56 - 1
15-62945387-T-C c.391T>C p.L131= Synonymous 4/56 - 1
15-62945387-T-G c.391T>G p.L131V Missense 4/56 - 3
15-62945389-A-G c.393A>G p.L131= Synonymous 4/56 - 1
15-62945389-A-T c.393A>T p.L131F Missense 4/56 - 1
15-62945392-C-T c.396C>T p.I132= Synonymous 4/56 - 1
15-62945393-C-G c.397C>G p.Q133E Missense 4/56 - 2
15-62945397-A-C c.401A>C p.E134A Missense 4/56 - 1
15-62945398-A-T c.402A>T p.E134D Missense 4/56 - 1
15-62945400-C-T c.404C>T p.T135I Missense 4/56 - 1
15-62945402-TA-T c.406del p.I136Lfs*28 Frameshift 4/56 - 1
15-62945408-G-A c.412G>A p.E138K Missense 4/56 - 1
15-62945413-G-A c.417G>A p.K139= Synonymous 4/56 - 1
15-62945420-G-T c.424G>T p.E142* Nonsense 4/56 - 1
15-62945423-G-C c.427G>C p.G143R Missense 4/56 - 2
15-62945424-G-A c.428G>A p.G143E Missense 4/56 - 2
15-62945429-G-A c.433G>A p.G145S Missense 4/56 - 1
15-62945427-CG-C c.434del p.G145Afs*19 Frameshift 4/56 - 1
15-62945430-G-A c.434G>A p.G145D Missense 4/56 - 1
15-62945432-A-C c.436A>C p.T146P Missense 4/56 - 1
15-62945434-A-G c.438A>G p.T146= Synonymous 4/56 - 1
15-62945435-C-G c.439C>G p.L147V Missense 4/56 - 1
15-62945441-A-C c.445A>C p.K149Q Missense 4/56 - 1
15-62945444-G-A c.448G>A p.D150N Missense 4/56 - 1
15-62945444-G-C c.448G>C p.D150H Missense 4/56 - 1
15-62945445-A-C c.449A>C p.D150A Missense 4/56 - 1
15-62945446-C-A c.450C>A p.D150E Missense 4/56 - 1
15-62945446-C-G c.450C>G p.D150E Missense 4/56 - 1
15-62945448-G-A c.452G>A p.R151K Missense 4/56 - 1
15-62945451-C-T c.455C>T p.T152I Missense 4/56 - 1
15-62945454-T-C c.458T>C p.L153P Missense 4/56 - 1
15-62945459-C-G c.463C>G p.R155G Missense 4/56 - 1
15-62945459-C-T c.463C>T p.R155* Nonsense 4/56 - 2
15-62945460-G-A c.464G>A p.R155Q Missense 4/56 - 1
15-62945462-G-A c.466G>A p.D156N Missense 4/56 - 2
15-62945465-G-T c.469G>T p.E157* Nonsense 4/56 - 1
15-62945467-G-A c.471G>A p.E157= Synonymous 4/56 - 1
15-62945468-AG-CA c.472_473delinsCA p.R158Q Missense 4/56 - 1
15-62945468-AG-TA c.472_473delinsTA p.R158* Nonsense 4/56 - 1
15-62945469-G-A c.473G>A p.R158K Missense 4/56 - 1
15-62945480-A-G c.484A>G p.K162E Missense 4/56 - 1
15-62945481-A-C c.485A>C p.K162T Missense 4/56 - 1
15-62945485-G-C c.489G>C p.L163F Missense 4/56 - 1
15-62945485-G-T c.489G>T p.L163F Missense 4/56 - 2
15-62945486-A-T c.490A>T p.K164* Nonsense 4/56 - 3
15-62945497-G-T c.501G>T p.L167= Synonymous 4/56 - 1
15-62945500-C-A c.504C>A p.H168Q Missense 4/56 - 1
15-62945500-C-G c.504C>G p.H168Q Missense 4/56 - 1
15-62945502-C-A c.506C>A p.T169K Missense 4/56 - 1
15-62945504-G-A c.508G>A p.D170N Missense 4/56 - 1
15-62945504-G-C c.508G>C p.D170H Missense 4/56 - 1
15-62945507-G-A c.511G>A p.D171N Missense 4/56 - 2
15-62945510-G-A c.514G>A p.D172N Missense 4/56 - 5
15-62945510-G-C c.514G>C p.D172H Missense 4/56 - 1
15-62945511-A-G c.515A>G p.D172G Missense 4/56 - 1
15-62945511-A-T c.515A>T p.D172V Missense 4/56 - 1
15-62945512-C-T c.516C>T p.D172= Synonymous 4/56 - 1
15-62945514-G-T c.517+1G>T - IntronicSNV - 4/55 1
15-62945733-G-A c.517+220G>A - IntronicSNV - 4/55 1
15-62948143-T-C c.518T>C p.L173P Missense 5/56 - 1
15-62945513-C-T c.517C>T p.L173= Synonymous 4/56 - 1
15-62948144-A-C c.519A>C p.L173= Synonymous 5/56 - 1
15-62948144-A-G c.519A>G p.L173= Synonymous 5/56 - 1
15-62948144-A-T c.519A>T p.L173= Synonymous 5/56 - 1
15-62948149-G-A c.524G>A p.W175* Nonsense 5/56 - 1
15-62948149-G-C c.524G>C p.W175S Missense 5/56 - 1
15-62948149-GG-AT c.524_525delinsAT p.W175Y Missense 5/56 - 2
15-62948150-G-A c.525G>A p.W175* Nonsense 5/56 - 1
15-62948150-G-C c.525G>C p.W175C Missense 5/56 - 1
15-62948150-G-T c.525G>T p.W175C Missense 5/56 - 1
15-62948151-CTG-TTT c.526_528delinsTTT p.L176F Missense 5/56 - 1
15-62948153-G-A c.528G>A p.L176= Synonymous 5/56 - 2
15-62948154-G-A c.529G>A p.D177N Missense 5/56 - 4
15-62948154-G-T c.529G>T p.D177Y Missense 5/56 - 2
15-62948157-C-T c.532C>T p.H178Y Missense 5/56 - 2
15-62948161-G-C c.536G>C p.S179T Missense 5/56 - 1
15-62948164-G-A c.539G>A p.R180Q Missense 5/56 - 3
15-62948166-A-G c.541A>G p.T181A Missense 5/56 - 3
15-62948169-T-C c.544T>C p.F182L Missense 5/56 - 2
15-62948169-T-G c.544T>G p.F182V Missense 5/56 - 1
15-62948171-C-A c.546C>A p.F182L Missense 5/56 - 1
15-62948171-C-G c.546C>G p.F182L Missense 5/56 - 1
15-62948171-C-T c.546C>T p.F182= Synonymous 5/56 - 1
15-62948172-AGA-TGG c.547_549delinsTGG p.R183W Missense 5/56 - 1
15-62948172-AG-CA c.547_548delinsCA p.R183Q Missense 5/56 - 1
15-62948174-A-C c.549A>C p.R183S Missense 5/56 - 1
15-62948174-A-T c.549A>T p.R183S Missense 5/56 - 1
15-62948178-C-G c.553C>G p.Q185E Missense 5/56 - 1
15-62948180-A-C c.555A>C p.Q185H Missense 5/56 - 1
15-62948180-A-T c.555A>T p.Q185H Missense 5/56 - 1
15-62948180-AG-A c.557del p.G186Efs*2 Frameshift 5/56 - 1
15-62948190-G-C c.565G>C p.E189Q Missense 5/56 - 1
15-62948192-A-C c.567A>C p.E189D Missense 5/56 - 1
15-62948192-A-T c.567A>T p.E189D Missense 5/56 - 1
15-62948194-A-G c.569A>G p.N190S Missense 5/56 - 2
15-62948195-AC-A c.570del p.N190Kfs*17 Frameshift 5/56 - 1
15-62948195-C-T c.570C>T p.N190= Synonymous 5/56 - 3
15-62948196-G-A c.571G>A p.E191K Missense 5/56 - 7
15-62948200-C-T c.575C>T p.T192M Missense 5/56 - 1
15-62948201-G-A c.576G>A p.T192= Synonymous 5/56 - 2
15-62948201-G-C c.576G>C p.T192= Synonymous 5/56 - 1
15-62948201-G-T c.576G>T p.T192= Synonymous 5/56 - 1
15-62948209-T-C c.584T>C p.L195P Missense 5/56 - 2
15-62948211-AGA-CAT c.586_588delinsCAT p.R196H Missense 5/56 - 1
15-62948211-AG-CA c.586_587delinsCA p.R196Q Missense 5/56 - 1
15-62948212-G-A c.587G>A p.R196K Missense 5/56 - 1
15-62948212-G-C c.587G>C p.R196T Missense 5/56 - 1
15-62948214-C-A c.589C>A p.R197= Synonymous 5/56 - 1
15-62948214-C-T c.589C>T p.R197W Missense 5/56 - 1
15-62948216-G-A c.591G>A p.R197= Synonymous 5/56 - 1
15-62948216-G-C c.591G>C p.R197= Synonymous 5/56 - 1
15-62948216-G-T c.591G>T p.R197= Synonymous 5/56 - 1
15-62948215-G-A c.590G>A p.R197Q Missense 5/56 - 1
15-62948220-T-C c.595T>C p.F199L Missense 5/56 - 1
15-62948222-C-A c.597C>A p.F199L Missense 5/56 - 1
15-62948222-C-G c.597C>G p.F199L Missense 5/56 - 1
15-62948224-TTTACTC-T c.601_606del p.Y201_S202del InFrameDeletion 5/56 - 2
15-62948228-C-T c.603C>T p.Y201= Synonymous 5/56 - 1
15-62948235-C-T c.610C>T p.Q204* Nonsense 5/56 - 4
15-62948241-GTA-ATG c.616_618delinsATG p.V206M Missense 5/56 - 1
15-62948246-T-A c.621T>A p.D207E Missense 5/56 - 1
15-62948246-T-G c.621T>G p.D207E Missense 5/56 - 1
15-62948247-T-A c.622T>A p.S208T Missense 5/56 - 1
15-62948248-C-T c.623C>T p.S208L Missense 5/56 - 13
15-62948249-G-A c.624G>A p.S208= Synonymous 5/56 - 3
15-62948249-G-C c.624G>C p.S208= Synonymous 5/56 - 2
15-62948249-G-T c.624G>T p.S208= Synonymous 5/56 - 1
15-62948250-AGA-CAT c.625_627delinsCAT p.R209H Missense 5/56 - 1
15-62948250-AGA-TGT c.625_627delinsTGT p.R209C Missense 5/56 - 1
15-62948250-AG-CT c.625_626inv p.R209L Missense 5/56 - 1
15-62948251-G-A c.626G>A p.R209K Missense 5/56 - 4
15-62948251-G-C c.626G>C p.R209T Missense 5/56 - 1
15-62948252-A-C c.627A>C p.R209S Missense 5/56 - 1
15-62948252-A-T c.627A>T p.R209S Missense 5/56 - 1
15-62948256-C-T c.631C>T p.P211S Missense 5/56 - 1
15-62948258-C-T c.633C>T p.P211= Synonymous 5/56 - 1
15-62948265-C-A c.640C>A p.L214M Missense 5/56 - 1
15-62948265-C-T c.640C>T p.L214= Synonymous 5/56 - 1
15-62948267-G-C c.642G>C p.L214= Synonymous 5/56 - 2
15-62948272-T-C c.647T>C p.L216S Missense 5/56 - 1
15-62948275-T-C c.650T>C p.L217P Missense 5/56 - 1
15-62948278-A-G c.653A>G p.Y218C Missense 5/56 - 1
15-62948280-G-A c.655G>A p.V219I Missense 5/56 - 1
15-62948367-CGG-C c.660+82_660+83del - IntronicDeletion - 5/55 1
15-62949970-G-A c.661G>A p.A221T Missense 6/56 - 1
15-62949970-G-T c.661G>T p.A221S Missense 6/56 - 1
15-62949971-C-A c.662C>A p.A221E Missense 6/56 - 1
15-62949971-C-G c.662C>G p.A221G Missense 6/56 - 1
15-62949971-C-T c.662C>T p.A221V Missense 6/56 - 1
15-62949974-G-A c.665G>A p.R222Q Missense 6/56 - 1
15-62949974-G-C c.665G>C p.R222P Missense 6/56 - 3
15-62949974-G-T c.665G>T p.R222L Missense 6/56 - 2
15-62949975-G-A c.666G>A p.R222= Synonymous 6/56 - 3
15-62949975-G-T c.666G>T p.R222= Synonymous 6/56 - 1
15-62949979-G-T c.670G>T p.D224Y Missense 6/56 - 1
15-62949984-C-T c.675C>T p.I225= Synonymous 6/56 - 3
15-62949991-G-C c.682G>C p.G228R Missense 6/56 - 2
15-62949993-C-T c.684C>T p.G228= Synonymous 6/56 - 1
15-62950004-T-G c.695T>G p.V232G Missense 6/56 - 1
15-62950006-TC-AA c.697_698delinsAA p.S233N Missense 6/56 - 1
15-62950007-C-G c.698C>G p.S233C Missense 6/56 - 1
15-62950007-C-T c.698C>T p.S233F Missense 6/56 - 1
15-62950011-C-T c.702C>T p.F234= Synonymous 6/56 - 3
15-62950012-G-A c.703G>A p.E235K Missense 6/56 - 2
15-62950014-G-C c.705G>C p.E235D Missense 6/56 - 1
15-62950014-G-T c.705G>T p.E235D Missense 6/56 - 1
15-62950018-G-A c.709G>A p.A237T Missense 6/56 - 1
15-62950028-T-G c.719T>G p.F240C Missense 6/56 - 1
15-62950030-G-A c.721G>A p.G241S Missense 6/56 - 1
15-62950034-G-C c.725G>C p.G242A Missense 6/56 - 1
15-62950034-G-T c.725G>T p.G242V Missense 6/56 - 1
15-62950039-TCAA-T c.730_732del p.Q244del InFrameDeletion 6/56 - 1
15-62950042-G-T c.733G>T p.A245S Missense 6/56 - 1
15-62950049-T-C c.740T>C p.I247T Missense 6/56 - 1
15-62950052-A-G c.743A>G p.Q248R Missense 6/56 - 1
15-62950054-T-G c.745T>G p.F249V Missense 6/56 - 1
15-62950057-G-T c.748G>T p.G250* Nonsense 6/56 - 1
15-62950066-G-A c.757G>A p.V253M Missense 6/56 - 1
15-62950077-A-C c.768A>C p.K256N Missense 6/56 - 1
15-62950077-A-T c.768A>T p.K256N Missense 6/56 - 1
15-62950078-C-T c.769C>T p.H257Y Missense 6/56 - 1
15-62950085-C-G c.776C>G p.P259R Missense 6/56 - 1
15-62950086-T-C c.777T>C p.P259= Synonymous 6/56 - 1
15-62950090-T-C c.781T>C p.F261L Missense 6/56 - 1
15-62950092-T-A c.783T>A p.F261L Missense 6/56 - 1
15-62950092-T-G c.783T>G p.F261L Missense 6/56 - 1
15-62950091-T-G c.782T>G p.F261C Missense 6/56 - 1
15-62950094-T-C c.785T>C p.L262S Missense 6/56 - 1
15-62950095-A-G c.786A>G p.L262= Synonymous 6/56 - 2
15-62950096-G-A c.787G>A p.D263N Missense 6/56 - 1
15-62950096-G-C c.787G>C p.D263H Missense 6/56 - 2
15-62950103-T-G c.788+6T>G - IntronicSNV - 6/55 1
15-62950154-G-C c.788+57G>C - IntronicSNV - 6/55 1
15-62953479-AT-A c.788+3388del - IntronicDeletion - 6/55 1
15-62955782-GA-G c.788+5696del - IntronicDeletion - 6/55 1
15-62958634-C-T c.789-7392C>T - IntronicSNV - 6/55 1
15-62966027-C-T c.790C>T p.L264= Synonymous 7/56 - 1
15-62966029-G-C c.792G>C p.L264= Synonymous 7/56 - 1
15-62966039-C-A c.802C>A p.L268M Missense 7/56 - 1
15-62966039-C-G c.802C>G p.L268V Missense 7/56 - 1
15-62966039-CTG-ATC c.802_804delinsATC p.L268I Missense 7/56 - 2
15-62966042-C-A c.805C>A p.P269T Missense 7/56 - 1
15-62966043-C-T c.806C>T p.P269L Missense 7/56 - 1
15-62966045-A-C c.808A>C p.K270Q Missense 7/56 - 1
15-62966048-G-A c.811G>A p.E271K Missense 7/56 - 3
15-62966048-G-C c.811G>C p.E271Q Missense 7/56 - 1
15-62966054-A-G c.817A>G p.I273V Missense 7/56 - 1
15-62966056-C-A c.819C>A p.I273= Synonymous 7/56 - 1
15-62966056-C-G c.819C>G p.I273M Missense 7/56 - 1
15-62966056-C-T c.819C>T p.I273= Synonymous 7/56 - 2
15-62966060-C-T c.823C>T p.Q275* Nonsense 7/56 - 1
15-62966062-G-A c.825G>A p.Q275= Synonymous 7/56 - 2
15-62966066-G-A c.829G>A p.G277R Missense 7/56 - 1
15-62966066-G-C c.829G>C p.G277R Missense 7/56 - 1
15-62966067-G-T c.830G>T p.G277V Missense 7/56 - 1
15-62966072-G-A c.835G>A p.E279K Missense 7/56 - 1
15-62966073-A-T c.836A>T p.E279V Missense 7/56 - 1
15-62966076-A-G c.839A>G p.K280R Missense 7/56 - 1
15-62966078-AG-TA c.841_842delinsTA p.R281* Nonsense 7/56 - 1
15-62966079-G-A c.842G>A p.R281K Missense 7/56 - 1
15-62966081-A-C c.844A>C p.I282L Missense 7/56 - 1
15-62966081-A-T c.844A>T p.I282F Missense 7/56 - 2
15-62966084-T-C c.847T>C p.F283L Missense 7/56 - 1
15-62966086-T-A c.849T>A p.F283L Missense 7/56 - 1
15-62966086-T-G c.849T>G p.F283L Missense 7/56 - 1
15-62966269-A-G c.852+180A>G - IntronicSNV - 7/55 1
15-62967416-G-C c.853G>C p.E285Q Missense 8/56 - 1
15-62967416-G-T c.853G>T p.E285* Nonsense 8/56 - 1
15-62967418-G-C c.855G>C p.E285D Missense 8/56 - 1
15-62967418-G-T c.855G>T p.E285D Missense 8/56 - 1
15-62967425-A-C c.862A>C p.N288H Missense 8/56 - 1
15-62967430-C-T c.867C>T p.C289= Synonymous 8/56 - 1
15-62967431-G-A c.868G>A p.G290R Missense 8/56 - 1
15-62967431-G-C c.868G>C p.G290R Missense 8/56 - 1
15-62967443-G-A c.880G>A p.E294K Missense 8/56 - 1
15-62967452-G-A c.889G>A p.A297T Missense 8/56 - 2
15-62967458-G-A c.895G>A p.V299I Missense 8/56 - 1
15-62967465-A-G c.902A>G p.Y301C Missense 8/56 - 1
15-62967467-G-A c.904G>A p.V302I Missense 8/56 - 1
15-62967475-C-A c.912C>A p.L304= Synonymous 8/56 - 1
15-62967475-C-G c.912C>G p.L304= Synonymous 8/56 - 1
15-62967475-C-T c.912C>T p.L304= Synonymous 8/56 - 3
15-62967476-G-A c.913G>A p.A305T Missense 8/56 - 4
15-62967479-C-T c.916C>T p.R306W Missense 8/56 - 3
15-62967480-G-T c.917G>T p.R306L Missense 8/56 - 2
15-62967487-C-T c.924C>T p.L308= Synonymous 8/56 - 1
15-62967488-C-T c.925C>T p.R309C Missense 8/56 - 1
15-62967489-G-A c.926G>A p.R309H Missense 8/56 - 1
15-62967489-GC-AA c.926_927delinsAA p.R309Q Missense 8/56 - 1
15-62967490-C-A c.927C>A p.R309= Synonymous 8/56 - 1
15-62967490-C-G c.927C>G p.R309= Synonymous 8/56 - 1
15-62967490-C-T c.927C>T p.R309= Synonymous 8/56 - 1
15-62967492-C-T c.929C>T p.T310I Missense 8/56 - 1
15-62967493-A-G c.930A>G p.T310= Synonymous 8/56 - 1
15-62967495-A-G c.932A>G p.Y311C Missense 8/56 - 2
15-62967499-C-A c.936C>A p.G312= Synonymous 8/56 - 1
15-62967499-C-G c.936C>G p.G312= Synonymous 8/56 - 1
15-62967499-C-T c.936C>T p.G312= Synonymous 8/56 - 2
15-62967500-G-A c.937G>A p.V313M Missense 8/56 - 7
15-62967504-CC-TT c.941_942delinsTT p.S314F Missense 8/56 - 1
15-62967504-C-T c.941C>T p.S314F Missense 8/56 - 3
15-62967511-C-T c.948C>T p.F316= Synonymous 8/56 - 1
15-62967511-TCC-T c.948_949del p.L317Gfs*28 Frameshift 8/56 - 1
15-62967514-G-T c.951G>T p.L317= Synonymous 8/56 - 1
15-62967515-G-A c.952G>A p.V318M Missense 8/56 - 2
15-62967515-GTG-ATC c.952_954delinsATC p.V318I Missense 8/56 - 1
15-62967519-A-C c.956A>C p.K319T Missense 8/56 - 1
15-62967532-A-T c.957+12A>T - IntronicSNV - 8/55 1
15-62967554-T-C c.957+34T>C - IntronicSNV - 8/55 2
15-62967736-C-A c.957+216C>A - IntronicSNV - 8/55 1
15-62972886-G-C c.957+5366G>C - IntronicSNV - 8/55 1
15-62978840-G-A c.958G>A p.E320K Missense 9/56 - 1
15-62978842-G-A c.960G>A p.E320= Synonymous 9/56 - 1
15-62978852-G-A c.970G>A p.G324S Missense 9/56 - 1
15-62978863-G-C c.981G>C p.K327N Missense 9/56 - 2
15-62978863-G-T c.981G>T p.K327N Missense 9/56 - 2
15-62978864-C-A c.982C>A p.L328M Missense 9/56 - 1
15-62978869-G-A c.987G>A p.V329= Synonymous 9/56 - 2
15-62978869-G-C c.987G>C p.V329= Synonymous 9/56 - 1
15-62978869-G-T c.987G>T p.V329= Synonymous 9/56 - 3
15-62978873-C-A c.991C>A p.R331S Missense 9/56 - 1
15-62978873-CGC-TGG c.991_993delinsTGG p.R331W Missense 9/56 - 1
15-62978873-C-T c.991C>T p.R331C Missense 9/56 - 2
15-62978874-G-A c.992G>A p.R331H Missense 9/56 - 1
15-62978882-GGG-AGC c.1000_1002delinsAGC p.G334S Missense 9/56 - 1
15-62978883-G-A c.1001G>A p.G334E Missense 9/56 - 2
15-62978897-T-G c.1015T>G p.S339A Missense 9/56 - 1
15-62978898-CG-GT c.1016_1017delinsGT p.S339C Missense 9/56 - 3
15-62978898-C-T c.1016C>T p.S339L Missense 9/56 - 7
15-62978899-G-A c.1017G>A p.S339= Synonymous 9/56 - 1
15-62978899-G-C c.1017G>C p.S339= Synonymous 9/56 - 1
15-62978899-G-T c.1017G>T p.S339= Synonymous 9/56 - 1
15-62978900-GTG-ATC c.1018_1020delinsATC p.V340I Missense 9/56 - 1
15-62978901-T-C c.1019T>C p.V340A Missense 9/56 - 2
15-62978906-C-T c.1024C>T p.R342C Missense 9/56 - 1
15-62978907-G-A c.1025G>A p.R342H Missense 9/56 - 1
15-62978908-C-A c.1026C>A p.R342= Synonymous 9/56 - 1
15-62978908-C-G c.1026C>G p.R342= Synonymous 9/56 - 1
15-62978908-C-T c.1026C>T p.R342= Synonymous 9/56 - 1
15-62978909-G-A c.1027G>A p.V343M Missense 9/56 - 2
15-62978911-G-A c.1029G>A p.V343= Synonymous 9/56 - 1
15-62978911-G-C c.1029G>C p.V343= Synonymous 9/56 - 1
15-62978911-G-T c.1029G>T p.V343= Synonymous 9/56 - 1
15-62978912-G-A c.1030G>A p.D344N Missense 9/56 - 1
15-62978912-G-C c.1030G>C p.D344H Missense 9/56 - 1
15-62978914-T-A c.1032T>A p.D344E Missense 9/56 - 1
15-62978914-T-G c.1032T>G p.D344E Missense 9/56 - 1
15-62978914-TGAGAAGACCAAGGAAGTGCTGCAGGA-T c.1034_1059del p.E345Vfs*47 Frameshift 9/56 - 1
15-62978920-G-A c.1038G>A p.K346= Synonymous 9/56 - 1
15-62978920-G-C c.1038G>C p.K346N Missense 9/56 - 1
15-62978920-G-T c.1038G>T p.K346N Missense 9/56 - 1
15-62978926-G-A c.1044G>A p.K348= Synonymous 9/56 - 1
15-62978927-G-C c.1045G>C p.E349Q Missense 9/56 - 1
15-62978931-T-A c.1049T>A p.V350E Missense 9/56 - 1
15-62978931-T-C c.1049T>C p.V350A Missense 9/56 - 1
15-62978936-C-A c.1054C>A p.Q352K Missense 9/56 - 1
15-62978940-A-C c.1058A>C p.E353A Missense 9/56 - 1
15-62978940-A-G c.1058A>G p.E353G Missense 9/56 - 1
15-62978945-C-T c.1063C>T p.P355S Missense 9/56 - 1
15-62978952-CC-TG c.1070_1071delinsTG p.T357M Missense 9/56 - 1
15-62978954-A-G c.1072A>G p.T358A Missense 9/56 - 1
15-62978957-G-A c.1075G>A p.V359I Missense 9/56 - 2
15-62978958-T-C c.1076T>C p.V359A Missense 9/56 - 2
15-62978963-C-T c.1081C>T p.R361C Missense 9/56 - 1
15-62978964-G-A c.1082G>A p.R361H Missense 9/56 - 1
15-62978965-C-G c.1083C>G p.R361= Synonymous 9/56 - 1
15-62978968-G-A c.1086G>A p.W362* Nonsense 9/56 - 1
15-62978969-G-A c.1087G>A p.A363T Missense 9/56 - 1
15-62978975-TCA-AAC c.1093_1095delinsAAC p.S365N Missense 9/56 - 1
15-62978976-C-A c.1094C>A p.S365* Nonsense 9/56 - 1
15-62978977-A-C c.1095A>C p.S365= Synonymous 9/56 - 2
15-62978977-A-G c.1095A>G p.S365= Synonymous 9/56 - 3
15-62978977-A-T c.1095A>T p.S365= Synonymous 9/56 - 2
15-62978978-C-T c.1096C>T p.P366S Missense 9/56 - 1
15-62978985-G-T c.1103G>T p.S368I Missense 9/56 - 1
15-62978993-C-G c.1111C>G p.L371V Missense 9/56 - 1
15-62979016-A-C c.1113+21A>C - IntronicSNV - 9/55 1
15-62979017-G-A c.1113+22G>A - IntronicSNV - 9/55 1
15-62979300-A-G c.1113+305A>G - IntronicSNV - 9/55 1
15-62985043-T-A c.1118T>A p.F373Y Missense 10/56 - 1
15-62985047-G-A c.1122G>A p.G374= Synonymous 10/56 - 1
15-62985054-C-T c.1129C>T p.Q377* Nonsense 10/56 - 1
15-62985061-G-A c.1136G>A p.S379N Missense 10/56 - 1
15-62985062-C-T c.1137C>T p.S379= Synonymous 10/56 - 1
15-62985066-T-C c.1141T>C p.Y381H Missense 10/56 - 1
15-62985068-T-C c.1143T>C p.Y381= Synonymous 10/56 - 1
15-62985080-C-A c.1155C>A p.T385= Synonymous 10/56 - 1
15-62985082-C-T c.1157C>T p.T386I Missense 10/56 - 1
15-62985083-C-A c.1158C>A p.T386= Synonymous 10/56 - 3
15-62985083-C-G c.1158C>G p.T386= Synonymous 10/56 - 3
15-62985083-C-T c.1158C>T p.T386= Synonymous 10/56 - 4
15-62985084-G-A c.1159G>A p.E387K Missense 10/56 - 4
15-62985087-G-A c.1162G>A p.G388R Missense 10/56 - 1
15-62985087-G-C c.1162G>C p.G388R Missense 10/56 - 1
15-62985088-GA-AC c.1163_1164delinsAC p.G388D Missense 10/56 - 1
15-62985098-A-G c.1173A>G p.I391M Missense 10/56 - 1
15-62985100-C-T c.1175C>T p.S392F Missense 10/56 - 8
15-62985101-C-A c.1176C>A p.S392= Synonymous 10/56 - 2
15-62985101-C-G c.1176C>G p.S392= Synonymous 10/56 - 1
15-62985101-C-T c.1176C>T p.S392= Synonymous 10/56 - 1
15-62985102-C-T c.1177C>T p.Q393* Nonsense 10/56 - 1
15-62985123-G-A c.1198G>A p.D400N Missense 10/56 - 1
15-62985123-G-C c.1198G>C p.D400H Missense 10/56 - 1
15-62985128-C-A c.1203C>A p.I401= Synonymous 10/56 - 1
15-62985128-C-T c.1203C>T p.I401= Synonymous 10/56 - 1
15-62985131-C-G c.1206C>G p.I402M Missense 10/56 - 1
15-62985131-C-T c.1206C>T p.I402= Synonymous 10/56 - 1
15-62985132-C-A c.1207C>A p.L403M Missense 10/56 - 1
15-62985132-C-T c.1207C>T p.L403= Synonymous 10/56 - 1
15-62985134-G-A c.1209G>A p.L403= Synonymous 10/56 - 1
15-62985134-G-C c.1209G>C p.L403= Synonymous 10/56 - 1
15-62985134-G-GT c.1209_1210insT p.K404* Nonsense 10/56 - 1
15-62985134-G-T c.1209G>T p.L403= Synonymous 10/56 - 1
15-62985267-G-A c.1215+127G>A - IntronicSNV - 10/55 1
15-62986517-A-C c.1218A>C p.K406N Missense 11/56 - 2
15-62986517-A-T c.1218A>T p.K406N Missense 11/56 - 1
15-62986518-C-T c.1219C>T p.Q407* Nonsense 11/56 - 1
15-62986518-CA-C c.1222del p.S408Vfs*7 Frameshift 11/56 - 1
15-62986524-A-T c.1225A>T p.K409* Nonsense 11/56 - 1
15-62986525-A-G c.1226A>G p.K409R Missense 11/56 - 1
15-62986527-G-A c.1228G>A p.D410N Missense 11/56 - 1
15-62986527-G-C c.1228G>C p.D410H Missense 11/56 - 1
15-62986530-C-T c.1231C>T p.R411* Nonsense 11/56 - 2
15-62986531-G-A c.1232G>A p.R411Q Missense 11/56 - 3
15-62986545-G-A c.1246G>A p.G416S Missense 11/56 - 1
15-62986547-T-A c.1248T>A p.G416= Synonymous 11/56 - 1
15-62986547-T-C c.1248T>C p.G416= Synonymous 11/56 - 1
15-62986547-T-G c.1248T>G p.G416= Synonymous 11/56 - 1
15-62986548-G-A c.1249G>A p.D417N Missense 11/56 - 1
15-62986551-G-A c.1252G>A p.E418K Missense 11/56 - 1
15-62986554-G-A c.1255G>A p.E419K Missense 11/56 - 2
15-62986558-CA-GT c.1259_1260delinsGT p.S420C Missense 11/56 - 2
15-62986569-G-A c.1270G>A p.E424K Missense 11/56 - 1
15-62986569-G-T c.1270G>T p.E424* Nonsense 11/56 - 1
15-62986574-G-A c.1275G>A p.E425= Synonymous 11/56 - 1
15-62986575-TC-CT c.1276_1277delinsCT p.S426L Missense 11/56 - 1
15-62986577-C-T c.1278C>T p.S426= Synonymous 11/56 - 1
15-62986578-G-A c.1279G>A p.V427I Missense 11/56 - 1
15-62986583-C-T c.1284C>T p.S428= Synonymous 11/56 - 3
15-62986585-C-T c.1286C>T p.P429L Missense 11/56 - 1
15-62986585-CA-C c.1292del p.K431Sfs*25 Frameshift 11/56 - 2
15-62987828-C-A c.1292+1237C>A - IntronicSNV - 11/55 1
15-62989888-T-TA c.1294_1295insA p.S432Yfs*33 SpliceAcceptorInsertion 12/56 - 1
15-62989889-C-T c.1295C>T p.S432F Missense 12/56 - 1
15-62989893-C-T c.1299C>T p.T433= Synonymous 12/56 - 1
15-62989915-C-T c.1321C>T p.R441W Missense 12/56 - 2
15-62989916-G-A c.1322G>A p.R441Q Missense 12/56 - 3
15-62989919-C-T c.1325C>T p.T442I Missense 12/56 - 1
15-62989920-C-A c.1326C>A p.T442= Synonymous 12/56 - 1
15-62989920-C-G c.1326C>G p.T442= Synonymous 12/56 - 1
15-62989920-C-T c.1326C>T p.T442= Synonymous 12/56 - 1
15-62989924-A-C c.1330A>C p.K444Q Missense 12/56 - 1
15-62989926-G-T c.1332G>T p.K444N Missense 12/56 - 1
15-62989927-G-A c.1333G>A p.A445T Missense 12/56 - 1
15-62989930-G-A c.1336G>A p.E446K Missense 12/56 - 1
15-62989933-C-T c.1339C>T p.H447Y Missense 12/56 - 1
15-62989935-C-T c.1341C>T p.H447= Synonymous 12/56 - 1
15-62989936-G-A c.1342G>A p.G448S Missense 12/56 - 1
15-62989936-G-T c.1342G>T p.G448C Missense 12/56 - 1
15-62989937-G-A c.1343G>A p.G448D Missense 12/56 - 1
15-62989938-C-T c.1344C>T p.G448= Synonymous 12/56 - 1
15-62989943-T-TA c.1349_1350insA p.A451Gfs*14 Frameshift 12/56 - 1
15-62989943-T-TG c.1351dup p.A451Gfs*14 Frameshift 12/56 - 1
15-62989946-C-T c.1352C>T p.A451V Missense 12/56 - 1
15-62989947-G-A c.1353G>A p.A451= Synonymous 12/56 - 2
15-62989947-G-C c.1353G>C p.A451= Synonymous 12/56 - 1
15-62989952-C-T c.1358C>T p.P453L Missense 12/56 - 2
15-62989953-G-A c.1359G>A p.P453= Synonymous 12/56 - 3
15-62989953-G-C c.1359G>C p.P453= Synonymous 12/56 - 1
15-62989953-G-T c.1359G>T p.P453= Synonymous 12/56 - 1
15-62989957-G-A c.1363G>A p.V455M Missense 12/56 - 2
15-62989963-C-T c.1369C>T p.R457C Missense 12/56 - 2
15-62989964-G-A c.1370G>A p.R457H Missense 12/56 - 1
15-62989969-G-T c.1375G>T p.G459C Missense 12/56 - 3
15-62989971-C-G c.1377C>G p.G459= Synonymous 12/56 - 1
15-62989971-C-T c.1377C>T p.G459= Synonymous 12/56 - 3
15-62989974-C-T c.1380C>T p.S460= Synonymous 12/56 - 2
15-62989977-C-T c.1383C>T p.S461= Synonymous 12/56 - 2
15-62989977-GC-G c.1383del p.S461Rfs*31 Frameshift 12/56 - 1
15-62989978-G-A c.1384G>A p.G462R Missense 12/56 - 1
15-62989984-G-T c.1390G>T p.E464* Nonsense 12/56 - 1
15-62989985-A-C c.1391A>C p.E464A Missense 12/56 - 1
15-62989986-G-A c.1392G>A p.E464= Synonymous 12/56 - 1
15-62989987-A-T c.1393A>T p.T465S Missense 12/56 - 1
15-62989988-C-G c.1394C>G p.T465S Missense 12/56 - 1
15-62989989-C-A c.1395C>A p.T465= Synonymous 12/56 - 1
15-62989995-C-T c.1401C>T p.N467= Synonymous 12/56 - 1
15-62989996-G-A c.1402G>A p.V468I Missense 12/56 - 3
15-62989999-GG-TT c.1405_1406delinsTT p.G469F Missense 12/56 - 2
15-62989999-G-T c.1405G>T p.G469C Missense 12/56 - 1
15-62990000-G-T c.1406G>T p.G469V Missense 12/56 - 2
15-62990003-G-C c.1409G>C p.S470T Missense 12/56 - 1
15-62990002-A-C c.1408A>C p.S470R Missense 12/56 - 1
15-62990004-C-A c.1410C>A p.S470R Missense 12/56 - 1
15-62990004-C-G c.1410C>G p.S470R Missense 12/56 - 1
15-62990004-C-T c.1410C>T p.S470= Synonymous 12/56 - 2
15-62990005-A-G c.1411A>G p.M471V Missense 12/56 - 1
15-62990011-T-C c.1417T>C p.S473P Missense 12/56 - 1
15-62990012-C-T c.1418C>T p.S473L Missense 12/56 - 3
15-62990022-G-A c.1428G>A p.Q476= Synonymous 12/56 - 1
15-62990025-G-A c.1431G>A p.Q477= Synonymous 12/56 - 1
15-62990026-GTC-ATG c.1432_1434delinsATG p.V478M Missense 12/56 - 1
15-62990028-C-A c.1434C>A p.V478= Synonymous 12/56 - 1
15-62990028-C-G c.1434C>G p.V478= Synonymous 12/56 - 1
15-62990028-C-T c.1434C>T p.V478= Synonymous 12/56 - 1
15-62990037-G-A c.1443G>A p.G481= Synonymous 12/56 - 1
15-62990037-G-C c.1443G>C p.G481= Synonymous 12/56 - 1
15-62990037-G-T c.1443G>T p.G481= Synonymous 12/56 - 2
15-62990042-T-G c.1448T>G p.M483R Missense 12/56 - 1
15-62990043-G-A c.1449G>A p.M483I Missense 12/56 - 1
15-62990045-AC-A c.1453del p.R485Efs*7 Frameshift 12/56 - 1
15-62990047-C-T c.1453C>T p.R485* Nonsense 12/56 - 3
15-62990048-G-A c.1454G>A p.R485Q Missense 12/56 - 6
15-62990050-G-A c.1456G>A p.G486S Missense 12/56 - 2
15-62990051-G-C c.1457G>C p.G486A Missense 12/56 - 1
15-62990061-G-A c.1467G>A p.P489= Synonymous 12/56 - 1
15-62990066-T-C c.1472T>C p.L491P Missense 12/56 - 1
15-62990395-ATTTTGAGG-A c.1473+332_1473+339del - IntronicDeletion - 12/55 1
15-62990957-C-A c.1478C>A p.S493* Nonsense 13/56 - 1
15-62990957-C-G c.1478C>G p.S493* Nonsense 13/56 - 1
15-62990957-C-T c.1478C>T p.S493L Missense 13/56 - 1
15-62990960-C-T c.1481C>T p.A494V Missense 13/56 - 3
15-62990964-G-A c.1485G>A p.Q495= Synonymous 13/56 - 1
15-62990965-C-T c.1486C>T p.Q496* Nonsense 13/56 - 1
15-62990967-G-A c.1488G>A p.Q496= Synonymous 13/56 - 1
15-62990968-G-A c.1489G>A p.A497T Missense 13/56 - 2
15-62990971-C-T c.1492C>T p.L498= Synonymous 13/56 - 13
15-62990973-G-A c.1494G>A p.L498= Synonymous 13/56 - 2
15-62990973-G-C c.1494G>C p.L498= Synonymous 13/56 - 2
15-62990973-G-T c.1494G>T p.L498= Synonymous 13/56 - 2
15-62990978-G-A c.1499G>A p.G500E Missense 13/56 - 1
15-62990988-C-A c.1509C>A p.N503K Missense 13/56 - 1
15-62990990-CA-TG c.1511_1512inv p.T504M Missense 13/56 - 1
15-62990997-G-A c.1518G>A p.M506I Missense 13/56 - 1
15-62990997-G-C c.1518G>C p.M506I Missense 13/56 - 1
15-62990997-G-T c.1518G>T p.M506I Missense 13/56 - 1
15-62990999-A-G c.1520A>G p.H507R Missense 13/56 - 4
15-62991000-C-T c.1521C>T p.H507= Synonymous 13/56 - 1
15-62991001-G-A c.1522G>A p.A508T Missense 13/56 - 1
15-62991002-C-T c.1523C>T p.A508V Missense 13/56 - 2
15-62991004-G-A c.1525G>A p.V509I Missense 13/56 - 2
15-62991008-A-G c.1529A>G p.Q510R Missense 13/56 - 1
15-62991011-A-G c.1532A>G p.Q511R Missense 13/56 - 1
15-62991012-G-C c.1533G>C p.Q511H Missense 13/56 - 1
15-62991012-G-T c.1533G>T p.Q511H Missense 13/56 - 1
15-62991016-C-A c.1537C>A p.Q513K Missense 13/56 - 1
15-62991029-G-A c.1550G>A p.S517N Missense 13/56 - 1
15-62991032-A-G c.1553A>G p.E518G Missense 13/56 - 1
15-62991034-C-T c.1555C>T p.L519F Missense 13/56 - 1
15-62991037-G-C c.1558G>C p.D520H Missense 13/56 - 1
15-62991040-T-C c.1561T>C p.S521P Missense 13/56 - 1
15-62991042-G-A c.1563G>A p.S521= Synonymous 13/56 - 1
15-62991042-G-C c.1563G>C p.S521= Synonymous 13/56 - 3
15-62991042-G-T c.1563G>T p.S521= Synonymous 13/56 - 1
15-62991046-C-T c.1567C>T p.P523S Missense 13/56 - 1
15-62991049-C-T c.1570C>T p.P524S Missense 13/56 - 2
15-62991055-G-T c.1576G>T p.G526C Missense 13/56 - 1
15-62991057-C-T c.1578C>T p.G526= Synonymous 13/56 - 1
15-62991061-G-A c.1582G>A p.D528N Missense 13/56 - 2
15-62991066-G-T c.1587G>T p.M529I Missense 13/56 - 1
15-62991210-C-T c.1587+144C>T - IntronicSNV - 13/55 1
15-62991368-A-T c.1587+302A>T - IntronicSNV - 13/55 1
15-62993312-G-A c.1595G>A p.R532K Missense 14/56 - 1
15-62993313-G-C c.1596G>C p.R532S Missense 14/56 - 1
15-62993313-G-T c.1596G>T p.R532S Missense 14/56 - 1
15-62993314-G-A c.1597G>A p.V533I Missense 14/56 - 1
15-62993315-T-C c.1598T>C p.V533A Missense 14/56 - 1
15-62993319-G-T c.1602G>T p.W534C Missense 14/56 - 1
15-62993325-G-A c.1608G>A p.Q536= Synonymous 14/56 - 1
15-62993335-G-A c.1618G>A p.D540N Missense 14/56 - 1
15-62993337-C-T c.1620C>T p.D540= Synonymous 14/56 - 2
15-62993338-G-A c.1621G>A p.E541K Missense 14/56 - 2
15-62993350-G-A c.1633G>A p.E545K Missense 14/56 - 3
15-62993361-T-A c.1644T>A p.S548= Synonymous 14/56 - 1
15-62993361-T-C c.1644T>C p.S548= Synonymous 14/56 - 1
15-62993361-T-G c.1644T>G p.S548= Synonymous 14/56 - 1
15-62993362-C-A c.1645C>A p.Q549K Missense 14/56 - 1
15-62993362-C-G c.1645C>G p.Q549E Missense 14/56 - 3
15-62993363-A-G c.1646A>G p.Q549R Missense 14/56 - 2
15-62993365-G-T c.1648G>T p.V550F Missense 14/56 - 1
15-62993369-A-G c.1652A>G p.D551G Missense 14/56 - 1
15-62993371-G-A c.1654G>A p.A552T Missense 14/56 - 1
15-62993375-T-C c.1658T>C p.I553T Missense 14/56 - 1
15-62993378-C-T c.1661C>T p.T554M Missense 14/56 - 1
15-62993382-C-T c.1665C>T p.A555= Synonymous 14/56 - 1
15-62993383-GG-AA c.1666_1667delinsAA p.G556K Missense 14/56 - 1
15-62993384-G-A c.1667G>A p.G556E Missense 14/56 - 3
15-62993384-G-C c.1667G>C p.G556A Missense 14/56 - 2
15-62993387-C-T c.1670C>T p.T557M Missense 14/56 - 1
15-62993389-G-C c.1672G>C p.A558P Missense 14/56 - 1
15-62993389-G-T c.1672G>T p.A558S Missense 14/56 - 1
15-62993399-T-G c.1682T>G p.V561G Missense 14/56 - 1
15-62993403-C-T c.1686C>T p.N562= Synonymous 14/56 - 1
15-62993406-C-T c.1689C>T p.L563= Synonymous 14/56 - 2
15-62993409-A-C c.1692A>C p.T564= Synonymous 14/56 - 1
15-62993409-A-G c.1692A>G p.T564= Synonymous 14/56 - 1
15-62993409-A-T c.1692A>T p.T564= Synonymous 14/56 - 1
15-62993409-CA-C c.1692del p.A565Lfs*23 Frameshift 14/56 - 1
15-62993464-GT-G c.1696+62del - IntronicDeletion - 14/55 2
15-62993576-G-T c.1696+163G>T - IntronicSNV - 14/55 1
15-62994193-G-A c.1699G>A p.D567N Missense 15/56 - 1
15-62994211-T-C c.1717T>C p.Y573H Missense 15/56 - 1
15-62994212-A-T c.1718A>T p.Y573F Missense 15/56 - 1
15-62994217-G-T c.1723G>T p.A575S Missense 15/56 - 1
15-62994220-G-A c.1726G>A p.V576M Missense 15/56 - 1
15-62994221-T-G c.1727T>G p.V576G Missense 15/56 - 1
15-62994223-G-T c.1729G>T p.G577* Nonsense 15/56 - 1
15-62994224-G-C c.1730G>C p.G577A Missense 15/56 - 1
15-62994230-C-T c.1736C>T p.A579V Missense 15/56 - 3
15-62994231-G-A c.1737G>A p.A579= Synonymous 15/56 - 4
15-62994231-G-C c.1737G>C p.A579= Synonymous 15/56 - 1
15-62994231-G-T c.1737G>T p.A579= Synonymous 15/56 - 1
15-62994233-T-C c.1739T>C p.I580T Missense 15/56 - 2
15-62994237-C-A c.1743C>A p.T581= Synonymous 15/56 - 1
15-62994237-C-G c.1743C>G p.T581= Synonymous 15/56 - 1
15-62994237-C-T c.1743C>T p.T581= Synonymous 15/56 - 1
15-62994245-C-T c.1751C>T p.S584F Missense 15/56 - 2
15-62994254-T-A c.1760T>A p.L587Q Missense 15/56 - 1
15-62994253-C-T c.1759C>T p.L587= Synonymous 15/56 - 1
15-62994255-G-A c.1761G>A p.L587= Synonymous 15/56 - 1
15-62994255-G-C c.1761G>C p.L587= Synonymous 15/56 - 1
15-62994255-G-T c.1761G>T p.L587= Synonymous 15/56 - 1
15-62994257-ACGGAGATGTCCAAGGGTGTGAAGCTATTGGCCGCCCTCATGGATGATGAGGTGGGCAGC-A c.1763_1821del p.T588Rfs*55 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 15/56 - 1
15-62994257-C-T c.1763C>T p.T588M Missense 15/56 - 4
15-62994262-A-C c.1768A>C p.M590L Missense 15/56 - 1
15-62994262-A-T c.1768A>T p.M590L Missense 15/56 - 1
15-62994265-T-C c.1771T>C p.S591P Missense 15/56 - 1
15-62994266-C-G c.1772C>G p.S591C Missense 15/56 - 1
15-62994270-G-T c.1776G>T p.K592N Missense 15/56 - 1
15-62994272-G-A c.1778G>A p.G593D Missense 15/56 - 1
15-62994274-G-C c.1780G>C p.V594L Missense 15/56 - 1
15-62994277-A-C c.1783A>C p.K595Q Missense 15/56 - 4
15-62994278-A-T c.1784A>T p.K595M Missense 15/56 - 1
15-62994279-G-A c.1785G>A p.K595= Synonymous 15/56 - 1
15-62994284-T-C c.1790T>C p.L597S Missense 15/56 - 1
15-62994286-G-A c.1792G>A p.A598T Missense 15/56 - 1
15-62994288-C-T c.1794C>T p.A598= Synonymous 15/56 - 1
15-62994291-C-T c.1797C>T p.A599= Synonymous 15/56 - 3
15-62994292-C-A c.1798C>A p.L600I Missense 15/56 - 1
15-62994294-C-T c.1800C>T p.L600= Synonymous 15/56 - 1
15-62994295-A-G c.1801A>G p.M601V Missense 15/56 - 4
15-62994306-G-C c.1812G>C p.E604D Missense 15/56 - 2
15-62994306-G-T c.1812G>T p.E604D Missense 15/56 - 1
15-62994307-GTG-ATC c.1813_1815delinsATC p.V605I Missense 15/56 - 1
15-62994310-G-C c.1816G>C p.G606R Missense 15/56 - 1
15-62994315-C-T c.1821C>T p.S607= Synonymous 15/56 - 1
15-62994316-G-A c.1822G>A p.G608R Missense 15/56 - 1
15-62994316-G-T c.1822G>T p.G608W Missense 15/56 - 1
15-62994319-G-A c.1825G>A p.E609K Missense 15/56 - 2
15-62994324-C-G c.1830C>G p.D610E Missense 15/56 - 1
15-62994324-C-T c.1830C>T p.D610= Synonymous 15/56 - 1
15-62994330-C-G c.1836C>G p.L612= Synonymous 15/56 - 1
15-62994331-AGA-CAT c.1837_1839delinsCAT p.R613H Missense 15/56 - 1
15-62994332-G-A c.1838G>A p.R613K Missense 15/56 - 1
15-62994332-G-C c.1838G>C p.R613T Missense 15/56 - 2
15-62994334-G-A c.1840G>A p.A614T Missense 15/56 - 1
15-62994339-C-T c.1845C>T p.A615= Synonymous 15/56 - 1
15-62994340-A-T c.1846A>T p.R616W Missense 15/56 - 1
15-62994344-CC-TG c.1850_1851delinsTG p.T617M Missense 15/56 - 1
15-62994350-C-T c.1856C>T p.A619V Missense 15/56 - 1
15-62994356-C-T c.1862C>T p.A621V Missense 15/56 - 4
15-62994357-G-A c.1863G>A p.A621= Synonymous 15/56 - 1
15-62994357-G-C c.1863G>C p.A621= Synonymous 15/56 - 1
15-62994357-G-T c.1863G>T p.A621= Synonymous 15/56 - 1
15-62994364-G-A c.1870G>A p.D624N Missense 15/56 - 1
15-62994384-G-C c.1890G>C p.Q630H Missense 15/56 - 2
15-62994384-G-T c.1890G>T p.Q630H Missense 15/56 - 1
15-62994395-G-T c.1901G>T p.G634V Missense 15/56 - 1
15-62994397-G-GCTTACCTCTCCAGAAGT c.1903_1904insCTTACCTCTCCAGAAGT p.E635Afs*13 SpliceDonorInsertion 15/56 - 1
15-62994399-G-A c.1905G>A p.E635= Synonymous 15/56 - 1
15-62994428-G-C c.1905+29G>C - IntronicSNV - 15/55 2
15-62994968-CGA-TGG c.1909_1911delinsTGG p.R637W Missense 16/56 - 1
15-62994968-C-T c.1909C>T p.R637* Nonsense 16/56 - 2
15-62994969-G-C c.1910G>C p.R637P Missense 16/56 - 1
15-62994971-C-T c.1912C>T p.Q638* Nonsense 16/56 - 1
15-62994968-CGACAGACAGTTTTGACTGCTGCTGGCAGCATCG-C c.1914_1946del p.T639_Q649del InFrameDeletion 16/56 - 1
15-62994975-C-T c.1916C>T p.T639I Missense 16/56 - 1
15-62994977-G-T c.1918G>T p.V640F Missense 16/56 - 1
15-62994987-C-T c.1928C>T p.A643V Missense 16/56 - 1
15-62994989-GC-TG c.1930_1931delinsTG p.A644C Missense 16/56 - 1
15-62994983-ACTG-A c.1931_1933del p.A644del InFrameDeletion 16/56 - 1
15-62994990-C-T c.1931C>T p.A644V Missense 16/56 - 1
15-62994997-C-T c.1938C>T p.S646= Synonymous 16/56 - 1
15-62995001-G-T c.1942G>T p.G648* Nonsense 16/56 - 1
15-62995003-A-C c.1944A>C p.G648= Synonymous 16/56 - 1
15-62995003-A-G c.1944A>G p.G648= Synonymous 16/56 - 1
15-62995003-A-T c.1944A>T p.G648= Synonymous 16/56 - 1
15-62995008-C-T c.1949C>T p.A650V Missense 16/56 - 1
15-62995013-G-A c.1954G>A p.G652R Missense 16/56 - 1
15-62995019-C-T c.1960C>T p.L654F Missense 16/56 - 3
15-62995019-CTT-TAA c.1960_1962delinsTAA p.L654* Nonsense 16/56 - 1
15-62995020-T-C c.1961T>C p.L654P Missense 16/56 - 1
15-62995024-G-C c.1965G>C p.L655= Synonymous 16/56 - 1
15-62995025-AG-CA c.1966_1967delinsCA p.R656Q Missense 16/56 - 1
15-62995030-G-C c.1971G>C p.Q657H Missense 16/56 - 2
15-62995037-G-A c.1978G>A p.E660K Missense 16/56 - 1
15-62995052-G-A c.1993G>A p.E665K Missense 16/56 - 1
15-62995055-C-T c.1996C>T p.R666* Nonsense 16/56 - 2
15-62995056-G-A c.1997G>A p.R666Q Missense 16/56 - 8
15-62995061-C-T c.2002C>T p.Q668* Nonsense 16/56 - 1
15-62999296-G-A c.2016G>A p.M672I Missense 17/56 - 1
15-62999296-G-C c.2016G>C p.M672I Missense 17/56 - 1
15-62999296-G-T c.2016G>T p.M672I Missense 17/56 - 1
15-62999300-T-C c.2020T>C p.L674= Synonymous 17/56 - 1
15-62999302-G-A c.2022G>A p.L674= Synonymous 17/56 - 1
15-62999304-C-T c.2024C>T p.A675V Missense 17/56 - 1
15-62999315-GC-TG c.2035_2036delinsTG p.A679C Missense 17/56 - 1
15-62999315-G-T c.2035G>T p.A679S Missense 17/56 - 1
15-62999316-C-G c.2036C>G p.A679G Missense 17/56 - 1
15-62999316-C-T c.2036C>T p.A679V Missense 17/56 - 1
15-62999325-C-T c.2045C>T p.A682V Missense 17/56 - 1
15-62999357-G-A c.2077G>A p.A693T Missense 17/56 - 1
15-62999360-C-T c.2080C>T p.Q694* Nonsense 17/56 - 3
15-62999368-C-G c.2088C>G p.A696= Synonymous 17/56 - 1
15-62999372-G-T c.2092G>T p.D698Y Missense 17/56 - 1
15-62999375-A-G c.2095A>G p.T699A Missense 17/56 - 2
15-62999375-A-T c.2095A>T p.T699S Missense 17/56 - 1
15-62999376-C-G c.2096C>G p.T699S Missense 17/56 - 1
15-62999388-A-G c.2108A>G p.N703S Missense 17/56 - 1
15-62999390-AGG-TGT c.2110_2112delinsTGT p.R704C Missense 17/56 - 2
15-62999397-T-C c.2117T>C p.I706T Missense 17/56 - 1
15-62999409-C-T c.2129C>T p.T710I Missense 17/56 - 1
15-62999417-G-A c.2137G>A p.A713T Missense 17/56 - 1
15-62999420-C-G c.2140C>G p.L714V Missense 17/56 - 2
15-62999426-A-T c.2146A>T p.T716S Missense 17/56 - 1
15-62999427-C-G c.2147C>G p.T716S Missense 17/56 - 1
15-62999431-C-T c.2151C>T p.S717= Synonymous 17/56 - 2
15-62999433-A-C c.2153A>C p.Q718P Missense 17/56 - 2
15-62999439-T-C c.2159T>C p.V720A Missense 17/56 - 5
15-62999441-G-T c.2161G>T p.A721S Missense 17/56 - 1
15-62999447-G-A c.2167G>A p.A723T Missense 17/56 - 1
15-62999450-A-G c.2170A>G p.K724E Missense 17/56 - 1
15-63000701-G-A c.2173G>A p.V725I Missense 18/56 - 1
15-63000703-T-A c.2175T>A p.V725= Synonymous 18/56 - 1
15-63000703-T-C c.2175T>C p.V725= Synonymous 18/56 - 1
15-63000703-T-G c.2175T>G p.V725= Synonymous 18/56 - 1
15-63000705-T-C c.2177T>C p.V726A Missense 18/56 - 1
15-63000709-C-T c.2181C>T p.S727= Synonymous 18/56 - 3
15-63000710-C-T c.2182C>T p.P728S Missense 18/56 - 4
15-63000715-T-A c.2187T>A p.T729= Synonymous 18/56 - 1
15-63000715-T-C c.2187T>C p.T729= Synonymous 18/56 - 1
15-63000715-T-G c.2187T>G p.T729= Synonymous 18/56 - 1
15-63000716-A-G c.2188A>G p.I730V Missense 18/56 - 1
15-63000720-G-A c.2192G>A p.S731N Missense 18/56 - 1
15-63000720-G-T c.2192G>T p.S731I Missense 18/56 - 1
15-63000722-T-C c.2194T>C p.S732P Missense 18/56 - 1
15-63000725-C-A c.2197C>A p.P733T Missense 18/56 - 1
15-63000725-C-G c.2197C>G p.P733A Missense 18/56 - 1
15-63000731-T-C c.2203T>C p.C735R Missense 18/56 - 1
15-63000739-G-C c.2211G>C p.E737D Missense 18/56 - 1
15-63000739-G-T c.2211G>T p.E737D Missense 18/56 - 2
15-63000743-C-T c.2215C>T p.L739= Synonymous 18/56 - 1
15-63000744-T-C c.2216T>C p.L739P Missense 18/56 - 1
15-63000764-G-A c.2236G>A p.V746M Missense 18/56 - 1
15-63000764-G-T c.2236G>T p.V746L Missense 18/56 - 1
15-63000770-CGC-TGG c.2242_2244delinsTGG p.R748W Missense 18/56 - 1
15-63000770-C-T c.2242C>T p.R748C Missense 18/56 - 4
15-63000771-G-A c.2243G>A p.R748H Missense 18/56 - 5
15-63000776-G-A c.2248G>A p.V750M Missense 18/56 - 1
15-63000778-G-A c.2250G>A p.V750= Synonymous 18/56 - 1
15-63000779-G-T c.2251G>T p.E751* Nonsense 18/56 - 1
15-63000791-C-T c.2263C>T p.R755C Missense 18/56 - 1
15-63000792-G-A c.2264G>A p.R755H Missense 18/56 - 1
15-63000800-C-A c.2272C>A p.Q758K Missense 18/56 - 1
15-63000804-C-T c.2276C>T p.A759V Missense 18/56 - 2
15-63000805-G-A c.2277G>A p.A759= Synonymous 18/56 - 1
15-63000806-G-A c.2278G>A p.A760T Missense 18/56 - 2
15-63000808-C-A c.2280C>A p.A760= Synonymous 18/56 - 1
15-63000810-C-T c.2282C>T p.T761I Missense 18/56 - 2
15-63000813-CC-TG c.2285_2286delinsTG p.T762M Missense 18/56 - 1
15-63000813-C-T c.2285C>T p.T762I Missense 18/56 - 1
15-63000814-C-T c.2286C>T p.T762= Synonymous 18/56 - 1
15-63000815-G-A c.2287G>A p.D763N Missense 18/56 - 1
15-63000819-G-C c.2291G>C p.S764T Missense 18/56 - 3
15-63000824-C-T c.2296C>T p.L766F Missense 18/56 - 1
15-63000827-C-T c.2299C>T p.L767= Synonymous 18/56 - 1
15-63000829-G-A c.2301G>A p.L767= Synonymous 18/56 - 1
15-63000829-G-C c.2301G>C p.L767= Synonymous 18/56 - 1
15-63000829-G-T c.2301G>T p.L767= Synonymous 18/56 - 1
15-63000832-G-C c.2304G>C p.K768N Missense 18/56 - 2
15-63000832-G-T c.2304G>T p.K768N Missense 18/56 - 2
15-63000836-G-T c.2308G>T p.V770F Missense 18/56 - 1
15-63000841-C-T c.2313C>T p.S771= Synonymous 18/56 - 3
15-63000842-G-A c.2314G>A p.A772T Missense 18/56 - 1
15-63000842-G-T c.2314G>T p.A772S Missense 18/56 - 1
15-63000843-C-T c.2315C>T p.A772V Missense 18/56 - 1
15-63000846-C-T c.2318C>T p.A773V Missense 18/56 - 1
15-63000854-G-A c.2326G>A p.V776M Missense 18/56 - 1
15-63000854-GTG-ATC c.2326_2328delinsATC p.V776I Missense 18/56 - 1
15-63000856-G-A c.2328G>A p.V776= Synonymous 18/56 - 2
15-63000856-G-C c.2328G>C p.V776= Synonymous 18/56 - 2
15-63000856-G-T c.2328G>T p.V776= Synonymous 18/56 - 2
15-63000859-C-T c.2331C>T p.V777= Synonymous 18/56 - 1
15-63000861-G-A c.2333G>A p.S778N Missense 18/56 - 4
15-63000865-G-T c.2337G>T p.Q779H Missense 18/56 - 2
15-63000875-G-A c.2347G>A p.D783N Missense 18/56 - 1
15-63000877-T-A c.2349T>A p.D783E Missense 18/56 - 1
15-63000878-C-T c.2350C>T p.L784F Missense 18/56 - 3
15-63000880-C-A c.2352C>A p.L784= Synonymous 18/56 - 1
15-63000890-G-T c.2362G>T p.V788L Missense 18/56 - 1
15-63000893-C-T c.2365C>T p.R789W Missense 18/56 - 2
15-63000894-G-A c.2366G>A p.R789Q Missense 18/56 - 2
15-63000900-T-G c.2372T>G p.F791C Missense 18/56 - 1
15-63000906-G-A c.2378G>A p.S793N Missense 18/56 - 1
15-63000908-CG-AT c.2380_2381delinsAT p.R794I Missense 18/56 - 1
15-63000908-C-T c.2380C>T p.R794* Nonsense 18/56 - 1
15-63000909-G-A c.2381G>A p.R794Q Missense 18/56 - 2
15-63000909-G-T c.2381G>T p.R794L Missense 18/56 - 1
15-63000913-C-A c.2385C>A p.G795= Synonymous 18/56 - 1
15-63000913-C-G c.2385C>G p.G795= Synonymous 18/56 - 1
15-63000913-C-T c.2385C>T p.G795= Synonymous 18/56 - 2
15-63000914-G-A c.2386G>A p.E796K Missense 18/56 - 1
15-63000918-C-T c.2390C>T p.P797L Missense 18/56 - 2
15-63000921-T-C c.2393T>C p.I798T Missense 18/56 - 1
15-63000922-C-A c.2394C>A p.I798= Synonymous 18/56 - 1
15-63000922-C-T c.2394C>T p.I798= Synonymous 18/56 - 1
15-63000923-G-A c.2395G>A p.G799S Missense 18/56 - 1
15-63000926-C-T c.2398C>T p.R800C Missense 18/56 - 1
15-63000932-G-A c.2404G>A p.D802N Missense 18/56 - 2
15-63000932-G-C c.2404G>C p.D802H Missense 18/56 - 1
15-63000937-G-A c.2409G>A p.Q803= Synonymous 18/56 - 2
15-63000942-C-T c.2414C>T p.T805I Missense 18/56 - 1
15-63000943-T-A c.2415T>A p.T805= Synonymous 18/56 - 1
15-63000943-T-C c.2415T>C p.T805= Synonymous 18/56 - 2
15-63000943-T-G c.2415T>G p.T805= Synonymous 18/56 - 1
15-63000944-G-A c.2416G>A p.D806N Missense 18/56 - 1
15-63000944-G-T c.2416G>T p.D806Y Missense 18/56 - 1
15-63000952-C-G c.2424C>G p.I808M Missense 18/56 - 1
15-63000959-G-A c.2431G>A p.V811I Missense 18/56 - 1
15-63000964-C-A c.2436C>A p.T812= Synonymous 18/56 - 1
15-63000964-C-G c.2436C>G p.T812= Synonymous 18/56 - 1
15-63000964-C-T c.2436C>T p.T812= Synonymous 18/56 - 1
15-63000965-G-A c.2437G>A p.E813K Missense 18/56 - 2
15-63000967-G-C c.2439G>C p.E813D Missense 18/56 - 3
15-63000967-G-T c.2439G>T p.E813D Missense 18/56 - 4
15-63000980-TC-AA c.2452_2453delinsAA p.S818N Missense 18/56 - 1
15-63000986-G-A c.2458G>A p.G820S Missense 18/56 - 1
15-63000986-G-T c.2458G>T p.G820C Missense 18/56 - 1
15-63004110-G-A c.2468G>A p.G823D Missense 19/56 - 1
15-63004114-A-G c.2472A>G p.E824= Synonymous 19/56 - 1
15-63004115-A-C c.2473A>C p.M825L Missense 19/56 - 1
15-63004116-T-G c.2474T>G p.M825R Missense 19/56 - 1
15-63004118-G-C c.2476G>C p.V826L Missense 19/56 - 1
15-63004118-G-T c.2476G>T p.V826L Missense 19/56 - 1
15-63004122-G-A c.2480G>A p.R827H Missense 19/56 - 2
15-63004122-GC-G c.2482del p.Q828Rfs*16 Frameshift 19/56 - 1
15-63004126-G-C c.2484G>C p.Q828H Missense 19/56 - 2
15-63004126-G-T c.2484G>T p.Q828H Missense 19/56 - 2
15-63004127-G-T c.2485G>T p.A829S Missense 19/56 - 1
15-63004129-G-A c.2487G>A p.A829= Synonymous 19/56 - 1
15-63004130-C-T c.2488C>T p.R830W Missense 19/56 - 1
15-63004131-G-A c.2489G>A p.R830Q Missense 19/56 - 3
15-63004131-G-T c.2489G>T p.R830L Missense 19/56 - 3
15-63004141-C-T c.2499C>T p.A833= Synonymous 19/56 - 1
15-63004142-C-T c.2500C>T p.Q834* Nonsense 19/56 - 1
15-63004148-A-T c.2506A>T p.T836S Missense 19/56 - 1
15-63004149-CA-TG c.2507_2508inv p.T836M Missense 19/56 - 1
15-63004152-C-A c.2510C>A p.S837* Nonsense 19/56 - 1
15-63004154-G-C c.2512G>C p.D838H Missense 19/56 - 1
15-63004159-C-G c.2517C>G p.L839= Synonymous 19/56 - 1
15-63004159-C-T c.2517C>T p.L839= Synonymous 19/56 - 1
15-63004160-G-A c.2518G>A p.V840I Missense 19/56 - 1
15-63004172-AGG-CAT c.2530_2532delinsCAT p.R844H Missense 19/56 - 1
15-63004172-AGG-TGT c.2530_2532delinsTGT p.R844C Missense 19/56 - 1
15-63004177-A-G c.2535A>G p.S845= Synonymous 19/56 - 1
15-63004181-G-A c.2539G>A p.A847T Missense 19/56 - 1
15-63004187-G-T c.2545G>T p.A849S Missense 19/56 - 2
15-63004188-C-T c.2546C>T p.A849V Missense 19/56 - 2
15-63004189-C-G c.2547C>G p.A849= Synonymous 19/56 - 3
15-63004189-C-T c.2547C>T p.A849= Synonymous 19/56 - 1
15-63004190-G-A c.2548G>A p.E850K Missense 19/56 - 1
15-63004193-A-G c.2551A>G p.I851V Missense 19/56 - 1
15-63004196-G-A c.2554G>A p.D852N Missense 19/56 - 2
15-63004198-C-G c.2556C>G p.D852E Missense 19/56 - 1
15-63004201-G-A c.2559G>A p.M853I Missense 19/56 - 2
15-63004202-G-A c.2560G>A p.E854K Missense 19/56 - 1
15-63004203-A-G c.2561A>G p.E854G Missense 19/56 - 1
15-63004204-G-C c.2562G>C p.E854D Missense 19/56 - 1
15-63004204-G-GT c.2562_2563insT p.N855* Nonsense 19/56 - 1
15-63004204-G-T c.2562G>T p.E854D Missense 19/56 - 1
15-63004213-G-A c.2571G>A p.K857= Synonymous 19/56 - 1
15-63004214-A-G c.2572A>G p.K858E Missense 19/56 - 1
15-63004216-G-C c.2574G>C p.K858N Missense 19/56 - 1
15-63004216-G-T c.2574G>T p.K858N Missense 19/56 - 1
15-63004217-C-T c.2575C>T p.L859F Missense 19/56 - 1
15-63004218-T-C c.2576T>C p.L859P Missense 19/56 - 1
15-63004219-C-A c.2577C>A p.L859= Synonymous 19/56 - 1
15-63004219-C-G c.2577C>G p.L859= Synonymous 19/56 - 1
15-63004219-C-T c.2577C>T p.L859= Synonymous 19/56 - 1
15-63004220-CTG-TTT c.2578_2580delinsTTT p.L860F Missense 19/56 - 1
15-63004221-T-G c.2579T>G p.L860R Missense 19/56 - 2
15-63004235-C-T c.2593C>T p.L865F Missense 19/56 - 1
15-63004238-T-C c.2596T>C p.L866= Synonymous 19/56 - 1
15-63004240-A-G c.2598A>G p.L866= Synonymous 19/56 - 1
15-63004249-C-A c.2607C>A p.S869= Synonymous 19/56 - 1
15-63004249-C-G c.2607C>G p.S869= Synonymous 19/56 - 1
15-63004249-C-T c.2607C>T p.S869= Synonymous 19/56 - 1
15-63004256-C-T c.2614C>T p.R872C Missense 19/56 - 1
15-63004257-G-A c.2615G>A p.R872H Missense 19/56 - 1
15-63004263-T-C c.2621T>C p.V874A Missense 19/56 - 1
15-63004269-C-T c.2627C>T p.A876V Missense 19/56 - 1
15-63004272-C-T c.2630C>T p.A877V Missense 19/56 - 1
15-63004274-A-G c.2632A>G p.K878E Missense 19/56 - 1
15-63004276-G-C c.2634G>C p.K878N Missense 19/56 - 2
15-63004276-G-T c.2634G>T p.K878N Missense 19/56 - 1
15-63004878-G-C c.2634+602G>C - IntronicSNV - 19/55 1
15-63005527-C-T c.2634+1251C>T - IntronicSNV - 19/55 1
15-63005805-GAGCC-G c.2634+1532_2634+1535del - IntronicDeletion - 19/55 1
15-63006247-C-G c.2634+1971C>G - IntronicSNV - 19/55 1
15-63008530-G-A c.2635G>A p.G879R Missense 20/56 - 1
15-63008530-G-C c.2635G>C p.G879R Missense 20/56 - 1
15-63008536-G-T c.2641G>T p.A881S Missense 20/56 - 2
15-63008543-A-G c.2648A>G p.N883S Missense 20/56 - 2
15-63008546-C-T c.2651C>T p.P884L Missense 20/56 - 1
15-63008547-A-C c.2652A>C p.P884= Synonymous 20/56 - 1
15-63008547-A-G c.2652A>G p.P884= Synonymous 20/56 - 1
15-63008547-A-T c.2652A>T p.P884= Synonymous 20/56 - 1
15-63008554-G-A c.2659G>A p.E887K Missense 20/56 - 5
15-63008557-G-A c.2662G>A p.D888N Missense 20/56 - 2
15-63008558-A-G c.2663A>G p.D888G Missense 20/56 - 1
15-63008559-C-T c.2664C>T p.D888= Synonymous 20/56 - 2
15-63008560-C-T c.2665C>T p.Q889* Nonsense 20/56 - 1
15-63008563-C-G c.2668C>G p.Q890E Missense 20/56 - 1
15-63008572-C-T c.2677C>T p.L893= Synonymous 20/56 - 1
15-63008574-G-A c.2679G>A p.L893= Synonymous 20/56 - 1
15-63008574-G-C c.2679G>C p.L893= Synonymous 20/56 - 2
15-63008574-G-T c.2679G>T p.L893= Synonymous 20/56 - 1
15-63008575-A-G c.2680A>G p.R894G Missense 20/56 - 1
15-63008582-C-G c.2687C>G p.A896G Missense 20/56 - 1
15-63008584-G-A c.2689G>A p.A897T Missense 20/56 - 1
15-63008596-C-G c.2701C>G p.R901G Missense 20/56 - 1
15-63008596-C-T c.2701C>T p.R901W Missense 20/56 - 1
15-63008598-G-T c.2703G>T p.R901= Synonymous 20/56 - 1
15-63008602-G-A c.2707G>A p.A903T Missense 20/56 - 1
15-63008602-G-C c.2707G>C p.A903P Missense 20/56 - 1
15-63008611-G-A c.2716G>A p.A906T Missense 20/56 - 1
15-63008614-G-A c.2719G>A p.A907T Missense 20/56 - 1
15-63008617-G-A c.2722G>A p.A908T Missense 20/56 - 1
15-63008634-G-C c.2739G>C p.K913N Missense 20/56 - 1
15-63008634-G-T c.2739G>T p.K913N Missense 20/56 - 1
15-63008634-GA-G c.2746del p.I916Lfs*57 Frameshift 20/56 - 2
15-63008644-G-A c.2749G>A p.V917I Missense 20/56 - 1
15-63008649-C-T c.2754C>T p.N918= Synonymous 20/56 - 1
15-63008650-C-T c.2755C>T p.R919* Nonsense 20/56 - 2
15-63008651-G-A c.2756G>A p.R919Q Missense 20/56 - 4
15-63008651-GA-AT c.2756_2757delinsAT p.R919H Missense 20/56 - 1
15-63008651-G-C c.2756G>C p.R919P Missense 20/56 - 1
15-63008655-G-A c.2760G>A p.L920= Synonymous 20/56 - 1
15-63008656-G-C c.2761G>C p.E921Q Missense 20/56 - 1
15-63008711-A-T c.2763+53A>T - IntronicSNV - 20/55 1
15-63009782-C-T c.2771C>T p.A924V Missense 21/56 - 1
15-63009784-A-G c.2773A>G p.K925E Missense 21/56 - 1
15-63009785-A-T c.2774A>T p.K925M Missense 21/56 - 1
15-63009787-C-G c.2776C>G p.Q926E Missense 21/56 - 1
15-63009792-C-A c.2781C>A p.A927= Synonymous 21/56 - 1
15-63009792-C-G c.2781C>G p.A927= Synonymous 21/56 - 1
15-63009792-C-T c.2781C>T p.A927= Synonymous 21/56 - 1
15-63009793-G-A c.2782G>A p.A928T Missense 21/56 - 2
15-63009796-G-A c.2785G>A p.A929T Missense 21/56 - 1
15-63009800-C-T c.2789C>T p.A930V Missense 21/56 - 1
15-63009804-C-G c.2793C>G p.A931= Synonymous 21/56 - 15
15-63009804-C-T c.2793C>T p.A931= Synonymous 21/56 - 16
15-63009805-A-C c.2794A>C p.T932P Missense 21/56 - 2
15-63009808-C-G c.2797C>G p.Q933E Missense 21/56 - 1
15-63009810-G-A c.2799G>A p.Q933= Synonymous 21/56 - 1
15-63009818-C-T c.2807C>T p.A936V Missense 21/56 - 1
15-63009820-G-A c.2809G>A p.A937T Missense 21/56 - 2
15-63009821-C-T c.2810C>T p.A937V Missense 21/56 - 1
15-63009823-T-G c.2812T>G p.S938A Missense 21/56 - 2
15-63009824-C-T c.2813C>T p.S938F Missense 21/56 - 1
15-63009828-G-A c.2817G>A p.Q939= Synonymous 21/56 - 1
15-63009832-G-A c.2821G>A p.A941T Missense 21/56 - 1
15-63009842-C-G c.2831C>G p.S944C Missense 21/56 - 1
15-63009842-C-T c.2831C>T p.S944F Missense 21/56 - 4
15-63009858-G-A c.2847G>A p.A949= Synonymous 21/56 - 1
15-63009865-C-T c.2854C>T p.Q952* Nonsense 21/56 - 1
15-63009877-C-T c.2866C>T p.Q956* Nonsense 21/56 - 2
15-63009879-G-A c.2868G>A p.Q956= Synonymous 21/56 - 1
15-63009881-G-A c.2870G>A p.S957N Missense 21/56 - 1
15-63011966-G-A c.2878G>A p.A960T Missense 22/56 - 2
15-63011966-G-T c.2878G>T p.A960S Missense 22/56 - 1
15-63011972-G-A c.2884G>A p.A962T Missense 22/56 - 1
15-63011978-C-T c.2890C>T p.H964Y Missense 22/56 - 2
15-63011984-C-T c.2896C>T p.P966S Missense 22/56 - 1
15-63011987-C-G c.2899C>G p.Q967E Missense 22/56 - 1
15-63011987-C-T c.2899C>T p.Q967* Nonsense 22/56 - 4
15-63011988-A-G c.2900A>G p.Q967R Missense 22/56 - 2
15-63011990-C-T c.2902C>T p.L968= Synonymous 22/56 - 1
15-63011994-TC-T c.2908del p.Q970Rfs*3 Frameshift 22/56 - 1
15-63012013-C-T c.2925C>T p.S975= Synonymous 22/56 - 1
15-63012029-G-A c.2941G>A p.D981N Missense 22/56 - 1
15-63012042-A-T c.2954A>T p.Q985L Missense 22/56 - 1
15-63012058-C-T c.2970C>T p.I990= Synonymous 22/56 - 1
15-63012060-C-T c.2972C>T p.S991F Missense 22/56 - 2
15-63012061-C-T c.2973C>T p.S991= Synonymous 22/56 - 1
15-63012064-C-A c.2976C>A p.S992R Missense 22/56 - 3
15-63012065-C-A c.2977C>A p.Q993K Missense 22/56 - 2
15-63012073-C-T c.2985C>T p.F995= Synonymous 22/56 - 2
15-63012086-G-A c.2991+7G>A - IntronicSNV - 22/55 1
15-63012304-T-A c.2991+225T>A - IntronicSNV - 22/55 1
15-63014556-G-T c.2996G>T p.G999V Missense 23/56 - 1
15-63014559-G-A c.2999G>A p.S1000N Missense 23/56 - 1
15-63014568-T-C c.3008T>C p.V1003A Missense 23/56 - 1
15-63014570-T-G c.3010T>G p.S1004A Missense 23/56 - 1
15-63014579-A-T c.3019A>T p.K1007* Nonsense 23/56 - 1
15-63014580-A-C c.3020A>C p.K1007T Missense 23/56 - 1
15-63014583-C-A c.3023C>A p.A1008D Missense 23/56 - 1
15-63014585-G-A c.3025G>A p.A1009T Missense 23/56 - 4
15-63014595-CC-AG c.3035_3036delinsAG p.T1012K Missense 23/56 - 1
15-63014595-C-T c.3035C>T p.T1012I Missense 23/56 - 1
15-63014597-G-A c.3037G>A p.V1013M Missense 23/56 - 1
15-63014599-G-A c.3039G>A p.V1013= Synonymous 23/56 - 1
15-63014599-G-C c.3039G>C p.V1013= Synonymous 23/56 - 1
15-63014599-G-T c.3039G>T p.V1013= Synonymous 23/56 - 1
15-63014612-G-T c.3052G>T p.A1018S Missense 23/56 - 2
15-63014624-C-T c.3064C>T p.L1022= Synonymous 23/56 - 2
15-63014626-G-A c.3066G>A p.L1022= Synonymous 23/56 - 2
15-63014626-G-C c.3066G>C p.L1022= Synonymous 23/56 - 2
15-63014626-G-T c.3066G>T p.L1022= Synonymous 23/56 - 2
15-63014629-C-G c.3069C>G p.S1023R Missense 23/56 - 1
15-63014648-G-A c.3088G>A p.A1030T Missense 23/56 - 1
15-63014652-C-T c.3092C>T p.T1031I Missense 23/56 - 3
15-63014660-G-T c.3100G>T p.A1034S Missense 23/56 - 3
15-63014661-C-T c.3101C>T p.A1034V Missense 23/56 - 1
15-63014666-C-G c.3106C>G p.L1036V Missense 23/56 - 1
15-63014669-C-T c.3109C>T p.R1037C Missense 23/56 - 2
15-63014673-C-T c.3113C>T p.T1038I Missense 23/56 - 1
15-63014679-CG-AT c.3119_3120delinsAT p.S1040Y Missense 23/56 - 1
15-63015922-GT-G c.3127-1244del - IntronicDeletion - 23/55 1
15-63017177-C-A c.3129C>A p.A1043= Synonymous 24/56 - 1
15-63017177-C-G c.3129C>G p.A1043= Synonymous 24/56 - 1
15-63017177-C-T c.3129C>T p.A1043= Synonymous 24/56 - 1
15-63017181-G-A c.3133G>A p.E1045K Missense 24/56 - 1
15-63017183-A-C c.3135A>C p.E1045D Missense 24/56 - 6
15-63017183-A-T c.3135A>T p.E1045D Missense 24/56 - 4
15-63017184-G-A c.3136G>A p.A1046T Missense 24/56 - 1
15-63017185-C-G c.3137C>G p.A1046G Missense 24/56 - 1
15-63017188-G-T c.3140G>T p.C1047F Missense 24/56 - 2
15-63017190-G-A c.3142G>A p.G1048S Missense 24/56 - 1
15-63017193-C-G c.3145C>G p.P1049A Missense 24/56 - 1
15-63017195-G-A c.3147G>A p.P1049= Synonymous 24/56 - 1
15-63017195-G-C c.3147G>C p.P1049= Synonymous 24/56 - 1
15-63017195-G-T c.3147G>T p.P1049= Synonymous 24/56 - 1
15-63017199-G-A c.3151G>A p.E1051K Missense 24/56 - 2
15-63017199-G-C c.3151G>C p.E1051Q Missense 24/56 - 1
15-63017204-C-A c.3156C>A p.I1052= Synonymous 24/56 - 2
15-63017204-C-T c.3156C>T p.I1052= Synonymous 24/56 - 5
15-63017208-T-C c.3160T>C p.S1054P Missense 24/56 - 1
15-63017214-CT-TC c.3166_3167delinsTC p.L1056S Missense 24/56 - 1
15-63017218-A-G c.3170A>G p.N1057S Missense 24/56 - 1
15-63017221-C-T c.3173C>T p.T1058M Missense 24/56 - 4
15-63017226-C-G c.3178C>G p.Q1060E Missense 24/56 - 1
15-63017230-C-T c.3182C>T p.T1061M Missense 24/56 - 1
15-63017231-G-A c.3183G>A p.T1061= Synonymous 24/56 - 1
15-63017231-G-C c.3183G>C p.T1061= Synonymous 24/56 - 1
15-63017231-G-T c.3183G>T p.T1061= Synonymous 24/56 - 1
15-63017232-C-G c.3184C>G p.L1062V Missense 24/56 - 1
15-63017241-G-T c.3193G>T p.E1065* Nonsense 24/56 - 1
15-63017249-G-A c.3201G>A p.Q1067= Synonymous 24/56 - 3
15-63017258-G-C c.3210G>C p.K1070N Missense 24/56 - 1
15-63017258-G-T c.3210G>T p.K1070N Missense 24/56 - 1
15-63017262-G-A c.3214G>A p.A1072T Missense 24/56 - 1
15-63017266-C-T c.3218C>T p.A1073V Missense 24/56 - 1
15-63017267-C-A c.3219C>A p.A1073= Synonymous 24/56 - 2
15-63017267-C-G c.3219C>G p.A1073= Synonymous 24/56 - 2
15-63017267-C-T c.3219C>T p.A1073= Synonymous 24/56 - 4
15-63017268-G-A c.3220G>A p.V1074M Missense 24/56 - 1
15-63017268-G-C c.3220G>C p.V1074L Missense 24/56 - 2
15-63017268-G-T c.3220G>T p.V1074L Missense 24/56 - 1
15-63017269-T-G c.3221T>G p.V1074G Missense 24/56 - 1
15-63017271-G-A c.3223G>A p.E1075K Missense 24/56 - 1
15-63017274-A-C c.3226A>C p.S1076R Missense 24/56 - 1
15-63017276-C-A c.3228C>A p.S1076R Missense 24/56 - 1
15-63017276-C-G c.3228C>G p.S1076R Missense 24/56 - 1
15-63017277-C-T c.3229C>T p.Q1077* Nonsense 24/56 - 1
15-63017291-T-A c.3243T>A p.L1081= Synonymous 24/56 - 1
15-63017291-T-C c.3243T>C p.L1081= Synonymous 24/56 - 1
15-63017291-T-G c.3243T>G p.L1081= Synonymous 24/56 - 1
15-63017292-C-T c.3244C>T p.P1082S Missense 24/56 - 4
15-63017294-A-C c.3246A>C p.P1082= Synonymous 24/56 - 2
15-63017294-A-G c.3246A>G p.P1082= Synonymous 24/56 - 1
15-63017294-A-T c.3246A>T p.P1082= Synonymous 24/56 - 1
15-63017296-G-A c.3248G>A p.G1083E Missense 24/56 - 2
15-63017296-G-C c.3248G>C p.G1083A Missense 24/56 - 1
15-63017298-G-A c.3250G>A p.E1084K Missense 24/56 - 1
15-63017298-G-T c.3250G>T p.E1084* Nonsense 24/56 - 1
15-63017302-C-T c.3254C>T p.T1085M Missense 24/56 - 1
15-63017303-G-A c.3255G>A p.T1085= Synonymous 24/56 - 1
15-63017385-A-G c.3255+82A>G - IntronicSNV - 24/55 1
15-63017480-G-A c.3255+177G>A - IntronicSNV - 24/55 1
15-63019296-G-T c.3266G>T p.C1089F Missense 25/56 - 1
15-63019298-G-A c.3268G>A p.A1090T Missense 25/56 - 1
15-63019299-C-G c.3269C>G p.A1090G Missense 25/56 - 1
15-63019301-C-G c.3271C>G p.Q1091E Missense 25/56 - 2
15-63019306-C-T c.3276C>T p.D1092= Synonymous 25/56 - 1
15-63019307-C-T c.3277C>T p.L1093= Synonymous 25/56 - 1
15-63019310-G-T c.3280G>T p.G1094* Nonsense 25/56 - 1
15-63019320-C-T c.3290C>T p.S1097F Missense 25/56 - 4
15-63019326-C-T c.3296C>T p.A1099V Missense 25/56 - 1
15-63019330-G-T c.3300G>T p.V1100= Synonymous 25/56 - 1
15-63019331-G-T c.3301G>T p.G1101C Missense 25/56 - 1
15-63019335-C-T c.3305C>T p.S1102F Missense 25/56 - 1
15-63019340-A-G c.3310A>G p.M1104V Missense 25/56 - 2
15-63019345-A-G c.3315A>G p.A1105= Synonymous 25/56 - 1
15-63019348-G-A c.3318G>A p.Q1106= Synonymous 25/56 - 2
15-63019352-C-T c.3322C>T p.L1108= Synonymous 25/56 - 1
15-63019362-C-T c.3332C>T p.A1111V Missense 25/56 - 1
15-63019370-G-A c.3340G>A p.G1114S Missense 25/56 - 5
15-63019375-C-T c.3345C>T p.N1115= Synonymous 25/56 - 1
15-63019376-G-A c.3346G>A p.E1116K Missense 25/56 - 2
15-63019385-A-C c.3355A>C p.T1119P Missense 25/56 - 1
15-63019385-A-G c.3355A>G p.T1119A Missense 25/56 - 1
15-63019551-T-G c.3358+163T>G - IntronicSNV - 25/55 1
15-63019574-T-C c.3358+186T>C - IntronicSNV - 25/55 1
15-63029091-G-A c.3373G>A p.E1125K Missense 26/56 - 1
15-63029092-A-C c.3374A>C p.E1125A Missense 26/56 - 3
15-63029095-C-T c.3377C>T p.T1126M Missense 26/56 - 2
15-63029096-G-T c.3378G>T p.T1126= Synonymous 26/56 - 1
15-63029097-G-T c.3379G>T p.A1127S Missense 26/56 - 1
15-63029098-C-T c.3380C>T p.A1127V Missense 26/56 - 1
15-63029110-AAAACACT-A c.3392_3398del p.K1131Rfs*22 Frameshift 26/56 - 1
15-63029110-A-G c.3392A>G p.K1131R Missense 26/56 - 1
15-63029115-C-T c.3397C>T p.L1133= Synonymous 26/56 - 2
15-63029117-G-A c.3399G>A p.L1133= Synonymous 26/56 - 4
15-63029117-G-C c.3399G>C p.L1133= Synonymous 26/56 - 2
15-63029117-G-T c.3399G>T p.L1133= Synonymous 26/56 - 2
15-63029118-G-A c.3400G>A p.A1134T Missense 26/56 - 2
15-63029121-C-T c.3403C>T p.Q1135* Nonsense 26/56 - 3
15-63029125-CC-TT c.3407_3408delinsTT p.A1136V Missense 26/56 - 1
15-63029125-C-T c.3407C>T p.A1136V Missense 26/56 - 3
15-63029127-G-A c.3409G>A p.A1137T Missense 26/56 - 2
15-63029129-C-T c.3411C>T p.A1137= Synonymous 26/56 - 1
15-63029133-G-T c.3415G>T p.G1139* Nonsense 26/56 - 1
15-63029134-G-A c.3416G>A p.G1139E Missense 26/56 - 1
15-63029139-G-A c.3421G>A p.A1141T Missense 26/56 - 1
15-63029142-G-A c.3424G>A p.A1142T Missense 26/56 - 1
15-63029146-C-T c.3428C>T p.S1143L Missense 26/56 - 1
15-63029147-G-A c.3429G>A p.S1143= Synonymous 26/56 - 4
15-63029147-G-C c.3429G>C p.S1143= Synonymous 26/56 - 2
15-63029147-G-T c.3429G>T p.S1143= Synonymous 26/56 - 1
15-63029153-C-A c.3435C>A p.T1145= Synonymous 26/56 - 1
15-63029153-C-G c.3435C>G p.T1145= Synonymous 26/56 - 1
15-63029153-C-T c.3435C>T p.T1145= Synonymous 26/56 - 2
15-63029155-ACCCCGCGGCCGC-A c.3440_3451del p.P1147_A1150del InFrameDeletion 26/56 - 1
15-63029158-C-T c.3440C>T p.P1147L Missense 26/56 - 1
15-63029160-G-A c.3442G>A p.A1148T Missense 26/56 - 3
15-63029160-G-T c.3442G>T p.A1148S Missense 26/56 - 5
15-63029161-C-T c.3443C>T p.A1148V Missense 26/56 - 2
15-63029165-C-A c.3447C>A p.A1149= Synonymous 26/56 - 1
15-63029165-C-T c.3447C>T p.A1149= Synonymous 26/56 - 3
15-63029170-A-G c.3452A>G p.H1151R Missense 26/56 - 1
15-63029173-C-A c.3455C>A p.A1152D Missense 26/56 - 1
15-63029174-C-T c.3456C>T p.A1152= Synonymous 26/56 - 1
15-63029175-A-G c.3457A>G p.M1153V Missense 26/56 - 2
15-63029178-T-C c.3460T>C p.L1154= Synonymous 26/56 - 3
15-63029188-C-T c.3470C>T p.A1157V Missense 26/56 - 1
15-63029190-C-T c.3472C>T p.R1158* Nonsense 26/56 - 2
15-63029194-A-C c.3476A>C p.D1159A Missense 26/56 - 1
15-63029198-G-T c.3480G>T p.V1160= Synonymous 26/56 - 1
15-63029202-G-A c.3484G>A p.E1162K Missense 26/56 - 3
15-63029202-G-C c.3484G>C p.E1162Q Missense 26/56 - 1
15-63029210-C-A c.3492C>A p.S1164= Synonymous 26/56 - 1
15-63029210-C-G c.3492C>G p.S1164= Synonymous 26/56 - 1
15-63029210-C-T c.3492C>T p.S1164= Synonymous 26/56 - 1
15-63029211-G-A c.3493G>A p.A1165T Missense 26/56 - 1
15-63029216-G-A c.3498G>A p.M1166I Missense 26/56 - 1
15-63029216-G-C c.3498G>C p.M1166I Missense 26/56 - 1
15-63029217-C-T c.3499C>T p.L1167F Missense 26/56 - 1
15-63029224-A-G c.3506A>G p.Q1169R Missense 26/56 - 1
15-63029225-A-T c.3507A>T p.Q1169H Missense 26/56 - 1
15-63029226-G-C c.3508G>C p.E1170Q Missense 26/56 - 1
15-63029237-G-C c.3519G>C p.Q1173H Missense 26/56 - 1
15-63029237-G-T c.3519G>T p.Q1173H Missense 26/56 - 1
15-63029239-C-A c.3521C>A p.A1174D Missense 26/56 - 1
15-63029239-CC-AG c.3521_3522delinsAG p.A1174E Missense 26/56 - 1
15-63029239-C-T c.3521C>T p.A1174V Missense 26/56 - 4
15-63029246-T-G c.3528T>G p.I1176M Missense 26/56 - 1
15-63029250-C-T c.3532C>T p.P1178S Missense 26/56 - 1
15-63029251-C-G c.3533C>G p.P1178R Missense 26/56 - 1
15-63029262-G-A c.3544G>A p.E1182K Missense 26/56 - 1
15-63029265-C-T c.3547C>T p.R1183C Missense 26/56 - 4
15-63029266-G-A c.3548G>A p.R1183H Missense 26/56 - 2
15-63029274-AG-CA c.3556_3557delinsCA p.R1186Q Missense 26/56 - 1
15-63029280-GC-TG c.3562_3563delinsTG p.A1188C Missense 26/56 - 1
15-63030416-G-C c.3571G>C p.A1191P Missense 27/56 - 1
15-63030417-C-T c.3572C>T p.A1191V Missense 27/56 - 1
15-63030437-T-A c.3592T>A p.L1198M Missense 27/56 - 1
15-63030443-A-G c.3598A>G p.N1200D Missense 27/56 - 3
15-63030448-C-T c.3603C>T p.C1201= Synonymous 27/56 - 1
15-63030452-A-C c.3607A>C p.N1203H Missense 27/56 - 1
15-63030452-A-G c.3607A>G p.N1203D Missense 27/56 - 1
15-63030460-C-T c.3615C>T p.L1205= Synonymous 27/56 - 2
15-63030464-G-T c.3619G>T p.G1207W Missense 27/56 - 1
15-63030471-A-C c.3626A>C p.K1209T Missense 27/56 - 1
15-63030474-A-G c.3629A>G p.D1210G Missense 27/56 - 1
15-63030474-A-T c.3629A>T p.D1210V Missense 27/56 - 3
15-63030475-T-C c.3630T>C p.D1210= Synonymous 27/56 - 1
15-63030476-G-C c.3631G>C p.V1211L Missense 27/56 - 1
15-63030481-C-T c.3636C>T p.D1212= Synonymous 27/56 - 2
15-63030482-G-A c.3637G>A p.V1213M Missense 27/56 - 1
15-63030490-G-C c.3645G>C p.L1215F Missense 27/56 - 4
15-63030490-G-T c.3645G>T p.L1215F Missense 27/56 - 2
15-63030492-AG-TC c.3647_3648delinsTC p.K1216I Missense 27/56 - 1
15-63030492-A-T c.3647A>T p.K1216M Missense 27/56 - 1
15-63030495-G-C c.3650G>C p.S1217T Missense 27/56 - 1
15-63030500-G-A c.3655G>A p.G1219R Missense 27/56 - 2
15-63030503-G-A c.3658G>A p.E1220K Missense 27/56 - 1
15-63030503-G-T c.3658G>T p.E1220* Nonsense 27/56 - 1
15-63030509-A-T c.3664A>T p.S1222C Missense 27/56 - 1
15-63030511-C-T c.3666C>T p.S1222= Synonymous 27/56 - 1
15-63030521-C-T c.3676C>T p.L1226F Missense 27/56 - 2
15-63030525-T-C c.3680T>C p.V1227A Missense 27/56 - 1
15-63030528-A-G c.3683A>G p.D1228G Missense 27/56 - 1
15-63030531-C-T c.3686C>T p.S1229L Missense 27/56 - 2
15-63030532-G-A c.3687G>A p.S1229= Synonymous 27/56 - 1
15-63030533-G-A c.3687+1G>A - IntronicSNV - 27/55 1
15-63030669-G-A c.3687+137G>A - IntronicSNV - 27/55 1
15-63030674-C-A c.3687+142C>A - IntronicSNV - 27/55 1
15-63031551-C-T c.3692C>T p.P1231L Missense 28/56 - 1
15-63031555-A-C c.3696A>C p.P1232= Synonymous 28/56 - 1
15-63031555-A-G c.3696A>G p.P1232= Synonymous 28/56 - 3
15-63031555-A-T c.3696A>T p.P1232= Synonymous 28/56 - 1
15-63031561-G-A c.3702G>A p.T1234= Synonymous 28/56 - 1
15-63031565-C-T c.3706C>T p.P1236S Missense 28/56 - 1
15-63031582-G-A c.3723G>A p.Q1241= Synonymous 28/56 - 1
15-63031593-A-T c.3734A>T p.N1245I Missense 28/56 - 2
15-63031595-C-T c.3736C>T p.Q1246* Nonsense 28/56 - 3
15-63031605-C-T c.3746C>T p.A1249V Missense 28/56 - 1
15-63031608-GAT-G c.3749_3750del p.D1250Afs*28 Frameshift 28/56 - 1
15-63031636-C-T c.3777C>T p.V1259= Synonymous 28/56 - 1
15-63031637-C-T c.3778C>T p.H1260Y Missense 28/56 - 2
15-63031641-C-T c.3782C>T p.A1261V Missense 28/56 - 2
15-63031644-C-G c.3785C>G p.T1262S Missense 28/56 - 2
15-63031644-C-T c.3785C>T p.T1262I Missense 28/56 - 7
15-63031648-G-T c.3789G>T p.R1263= Synonymous 28/56 - 1
15-63031646-CG-C c.3791del p.G1264Afs*40 Frameshift 28/56 - 3
15-63031650-G-A c.3791G>A p.G1264D Missense 28/56 - 1
15-63031654-G-A c.3795G>A p.Q1265= Synonymous 28/56 - 3
15-63031657-T-A c.3798T>A p.S1266R Missense 28/56 - 1
15-63031658-G-T c.3799G>T p.G1267* Nonsense 28/56 - 1
15-63031659-G-T c.3800G>T p.G1267V Missense 28/56 - 1
15-63031668-C-T c.3809C>T p.A1270V Missense 28/56 - 1
15-63031673-G-A c.3814G>A p.A1272T Missense 28/56 - 1
15-63031679-G-T c.3820G>T p.G1274* Nonsense 28/56 - 1
15-63031680-G-A c.3821G>A p.G1274E Missense 28/56 - 2
15-63031682-A-G c.3823A>G p.K1275E Missense 28/56 - 1
15-63031697-T-A c.3838T>A p.F1280I Missense 28/56 - 1
15-63031708-C-T c.3849C>T p.F1283= Synonymous 28/56 - 3
15-63031711-C-T c.3852C>T p.L1284= Synonymous 28/56 - 1
15-63031724-G-C c.3865G>C p.E1289Q Missense 28/56 - 1
15-63031731-C-A c.3872C>A p.A1291D Missense 28/56 - 1
15-63031735-C-T c.3876C>T p.G1292= Synonymous 28/56 - 1
15-63031744-G-C c.3885G>C p.Q1295H Missense 28/56 - 1
15-63031744-G-T c.3885G>T p.Q1295H Missense 28/56 - 1
15-63032829-AC-GG c.3886_3887delinsGG p.T1296G Missense 29/56 - 1
15-63032834-A-AT c.3891_3892insT p.E1298* Nonsense 29/56 - 1
15-63032832-AAAG-A c.3894_3896del p.E1298del InFrameDeletion 29/56 - 1
15-63032843-G-C c.3900G>C p.Q1300H Missense 29/56 - 3
15-63032843-G-T c.3900G>T p.Q1300H Missense 29/56 - 2
15-63032846-C-T c.3903C>T p.I1301= Synonymous 29/56 - 1
15-63032848-A-G c.3905A>G p.Q1302R Missense 29/56 - 1
15-63032854-T-C c.3911T>C p.I1304T Missense 29/56 - 1
15-63032855-A-G c.3912A>G p.I1304M Missense 29/56 - 1
15-63032858-G-T c.3915G>T p.G1305= Synonymous 29/56 - 1
15-63032875-C-T c.3932C>T p.S1311L Missense 29/56 - 3
15-63032876-G-T c.3933G>T p.S1311= Synonymous 29/56 - 1
15-63032881-C-T c.3938C>T p.A1313V Missense 29/56 - 1
15-63032901-G-T c.3958G>T p.A1320S Missense 29/56 - 1
15-63032902-C-T c.3959C>T p.A1320V Missense 29/56 - 1
15-63032911-C-A c.3968C>A p.S1323Y Missense 29/56 - 1
15-63032911-C-T c.3968C>T p.S1323F Missense 29/56 - 1
15-63032909-GTCTC-G c.3972_3975del p.S1325* Frameshift 29/56 - 1
15-63032917-C-T c.3974C>T p.S1325F Missense 29/56 - 3
15-63032928-G-A c.3985G>A p.G1329R Missense 29/56 - 1
15-63032928-G-C c.3985G>C p.G1329R Missense 29/56 - 1
15-63032929-G-A c.3986G>A p.G1329E Missense 29/56 - 1
15-63032931-G-A c.3988G>A p.A1330T Missense 29/56 - 3
15-63032934-C-T c.3991C>T p.P1331S Missense 29/56 - 2
15-63032935-C-T c.3992C>T p.P1331L Missense 29/56 - 2
15-63032941-C-T c.3998C>T p.A1333V Missense 29/56 - 2
15-63032942-G-A c.3999G>A p.A1333= Synonymous 29/56 - 1
15-63032946-A-T c.4003A>T p.N1335Y Missense 29/56 - 1
15-63032949-C-A c.4006C>A p.L1336I Missense 29/56 - 1
15-63032949-C-T c.4006C>T p.L1336F Missense 29/56 - 2
15-63032952-C-G c.4009C>G p.L1337V Missense 29/56 - 1
15-63032952-C-T c.4009C>T p.L1337= Synonymous 29/56 - 1
15-63032954-G-A c.4011G>A p.L1337= Synonymous 29/56 - 1
15-63032954-G-C c.4011G>C p.L1337= Synonymous 29/56 - 1
15-63032954-G-T c.4011G>T p.L1337= Synonymous 29/56 - 1
15-63032959-C-G c.4016C>G p.A1339G Missense 29/56 - 1
15-63032961-G-A c.4018G>A p.A1340T Missense 29/56 - 1
15-63032963-CT-C c.4020del p.A1341Qfs*4 Frameshift 29/56 - 1
15-63032963-T-A c.4020T>A p.A1340= Synonymous 29/56 - 1
15-63032963-T-C c.4020T>C p.A1340= Synonymous 29/56 - 1
15-63032963-T-G c.4020T>G p.A1340= Synonymous 29/56 - 1
15-63032964-G-A c.4021G>A p.A1341T Missense 29/56 - 1
15-63033524-G-A c.4025+556G>A - IntronicSNV - 29/55 1
15-63034829-GA-G c.4025+1871del - IntronicDeletion - 29/55 1
15-63040552-C-G c.4028C>G p.A1343G Missense 30/56 - 1
15-63040564-G-A c.4040G>A p.S1347N Missense 30/56 - 1
15-63040568-C-G c.4044C>G p.I1348M Missense 30/56 - 1
15-63040577-C-G c.4053C>G p.L1351= Synonymous 30/56 - 1
15-63040578-A-T c.4054A>T p.I1352F Missense 30/56 - 1
15-63040581-AC-GG c.4057_4058delinsGG p.T1353G Missense 30/56 - 1
15-63040581-A-T c.4057A>T p.T1353S Missense 30/56 - 1
15-63040582-C-G c.4058C>G p.T1353S Missense 30/56 - 2
15-63040586-GT-AA c.4062_4063delinsAA p.C1355S Missense 30/56 - 1
15-63040587-T-A c.4063T>A p.C1355S Missense 30/56 - 4
15-63040588-G-C c.4064G>C p.C1355S Missense 30/56 - 3
15-63040588-G-A c.4064G>A p.C1355Y Missense 30/56 - 1
15-63040603-C-A c.4079C>A p.P1360Q Missense 30/56 - 1
15-63040603-C-T c.4079C>T p.P1360L Missense 30/56 - 1
15-63040607-C-A c.4083C>A p.G1361= Synonymous 30/56 - 1
15-63040607-C-G c.4083C>G p.G1361= Synonymous 30/56 - 1
15-63040607-C-T c.4083C>T p.G1361= Synonymous 30/56 - 1
15-63040608-C-T c.4084C>T p.Q1362* Nonsense 30/56 - 1
15-63040614-G-C c.4090G>C p.E1364Q Missense 30/56 - 1
15-63040617-T-C c.4093T>C p.C1365R Missense 30/56 - 2
15-63040618-G-A c.4094G>A p.C1365Y Missense 30/56 - 1
15-63040619-C-T c.4095C>T p.C1365= Synonymous 30/56 - 6
15-63040621-A-G c.4097A>G p.D1366G Missense 30/56 - 1
15-63040624-A-G c.4100A>G p.N1367S Missense 30/56 - 1
15-63040627-C-T c.4103C>T p.A1368V Missense 30/56 - 2
15-63040633-G-A c.4109G>A p.R1370Q Missense 30/56 - 5
15-63040635-G-C c.4111G>C p.E1371Q Missense 30/56 - 1
15-63040637-G-C c.4113G>C p.E1371D Missense 30/56 - 1
15-63040637-G-T c.4113G>T p.E1371D Missense 30/56 - 1
15-63040640-C-A c.4116C>A p.L1372= Synonymous 30/56 - 2
15-63040640-C-G c.4116C>G p.L1372= Synonymous 30/56 - 2
15-63040640-C-T c.4116C>T p.L1372= Synonymous 30/56 - 3
15-63040641-G-A c.4117G>A p.E1373K Missense 30/56 - 4
15-63040643-G-A c.4119G>A p.E1373= Synonymous 30/56 - 1
15-63040643-G-C c.4119G>C p.E1373D Missense 30/56 - 1
15-63040643-G-T c.4119G>T p.E1373D Missense 30/56 - 1
15-63042617-T-C c.4136T>C p.L1379S Missense 31/56 - 2
15-63042619-G-A c.4138G>A p.D1380N Missense 31/56 - 1
15-63042620-A-G c.4139A>G p.D1380G Missense 31/56 - 3
15-63042641-G-A c.4160G>A p.S1387N Missense 31/56 - 2
15-63042640-A-C c.4159A>C p.S1387R Missense 31/56 - 1
15-63042642-T-A c.4161T>A p.S1387R Missense 31/56 - 1
15-63042642-T-G c.4161T>G p.S1387R Missense 31/56 - 1
15-63042643-G-C c.4162G>C p.D1388H Missense 31/56 - 1
15-63042645-C-A c.4164C>A p.D1388E Missense 31/56 - 2
15-63042645-C-G c.4164C>G p.D1388E Missense 31/56 - 1
15-63042648-C-A c.4167C>A p.L1389= Synonymous 31/56 - 1
15-63042648-C-G c.4167C>G p.L1389= Synonymous 31/56 - 2
15-63042648-C-T c.4167C>T p.L1389= Synonymous 31/56 - 1
15-63042650-C-T c.4169C>T p.S1390F Missense 31/56 - 1
15-63042654-C-A c.4173C>A p.Y1391* Nonsense 31/56 - 1
15-63042657-T-G c.4176T>G p.F1392L Missense 31/56 - 2
15-63042664-A-G c.4183A>G p.I1395V Missense 31/56 - 1
15-63042664-A-AT c.4185dup p.E1396* Nonsense 31/56 - 1
15-63042667-G-T c.4186G>T p.E1396* Nonsense 31/56 - 1
15-63042672-GT-G c.4191del p.S1397Rfs*2 Frameshift 31/56 - 1
15-63042684-C-T c.4203C>T p.N1401= Synonymous 31/56 - 1
15-63042688-A-G c.4207A>G p.K1403E Missense 31/56 - 1
15-63042691-GGT-G c.4209+1_4209+2del - SpliceDonorDeletion - 31/55 1
15-63043343-TA-T c.4209+664del - IntronicDeletion - 31/55 1
15-63044511-G-GT c.4218dup p.E1407* Nonsense 32/56 - 2
15-63044512-GT-G c.4218del p.E1407Nfs*32 Frameshift 32/56 - 1
15-63044513-G-A c.4219G>A p.E1407K Missense 32/56 - 1
15-63044518-G-A c.4224G>A p.S1408= Synonymous 32/56 - 1
15-63044518-G-C c.4224G>C p.S1408= Synonymous 32/56 - 1
15-63044518-G-T c.4224G>T p.S1408= Synonymous 32/56 - 1
15-63044532-C-T c.4238C>T p.S1413L Missense 32/56 - 5
15-63044536-G-A c.4242G>A p.Q1414= Synonymous 32/56 - 2
15-63044545-G-C c.4251G>C p.K1417N Missense 32/56 - 2
15-63044545-G-T c.4251G>T p.K1417N Missense 32/56 - 2
15-63044548-C-A c.4254C>A p.T1418= Synonymous 32/56 - 1
15-63044548-C-G c.4254C>G p.T1418= Synonymous 32/56 - 1
15-63044548-C-T c.4254C>T p.T1418= Synonymous 32/56 - 1
15-63044549-G-A c.4255G>A p.G1419R Missense 32/56 - 1
15-63044549-G-C c.4255G>C p.G1419R Missense 32/56 - 1
15-63044551-A-G c.4257A>G p.G1419= Synonymous 32/56 - 1
15-63044557-C-T c.4263C>T p.L1421= Synonymous 32/56 - 1
15-63044558-C-A c.4264C>A p.P1422T Missense 32/56 - 1
15-63044563-C-T c.4269C>T p.A1423= Synonymous 32/56 - 2
15-63044569-G-A c.4275G>A p.G1425= Synonymous 32/56 - 1
15-63044569-G-C c.4275G>C p.G1425= Synonymous 32/56 - 1
15-63044569-G-T c.4275G>T p.G1425= Synonymous 32/56 - 2
15-63044573-TG-AC c.4279_4280delinsAC p.C1427T Missense 32/56 - 1
15-63044576-G-C c.4282G>C p.V1428L Missense 32/56 - 1
15-63044576-G-T c.4282G>T p.V1428L Missense 32/56 - 1
15-63044589-C-T c.4295C>T p.S1432F Missense 32/56 - 2
15-63044602-T-A c.4308T>A p.C1436* Nonsense 32/56 - 2
15-63044607-T-G c.4313T>G p.L1438R Missense 32/56 - 1
15-63044612-G-A c.4318G>A p.E1440K Missense 32/56 - 1
15-63044623-C-T c.4329C>T p.A1443= Synonymous 32/56 - 1
15-63044628-T-A c.4332+2T>A - IntronicSNV - 32/55 1
15-63044637-A-G c.4332+11A>G - IntronicSNV - 32/55 2
15-63044639-T-C c.4332+13T>C - IntronicSNV - 32/55 1
15-63045974-T-G c.4335T>G p.A1445= Synonymous 33/56 - 1
15-63045978-T-C c.4339T>C p.Y1447H Missense 33/56 - 1
15-63045981-T-C c.4342T>C p.L1448= Synonymous 33/56 - 1
15-63045984-G-C c.4345G>C p.V1449L Missense 33/56 - 1
15-63045984-G-T c.4345G>T p.V1449F Missense 33/56 - 4
15-63045986-T-A c.4347T>A p.V1449= Synonymous 33/56 - 1
15-63045988-G-T c.4349G>T p.G1450V Missense 33/56 - 1
15-63045992-C-T c.4353C>T p.I1451= Synonymous 33/56 - 1
15-63045994-C-T c.4355C>T p.S1452F Missense 33/56 - 1
15-63045996-G-C c.4357G>C p.D1453H Missense 33/56 - 1
15-63046000-C-T c.4361C>T p.P1454L Missense 33/56 - 4
15-63046004-C-A c.4365C>A p.N1455K Missense 33/56 - 1
15-63046006-G-A c.4367G>A p.S1456N Missense 33/56 - 1
15-63046007-C-T c.4368C>T p.S1456= Synonymous 33/56 - 1
15-63046016-C-A c.4377C>A p.G1459= Synonymous 33/56 - 1
15-63046016-C-G c.4377C>G p.G1459= Synonymous 33/56 - 1
15-63046016-C-T c.4377C>T p.G1459= Synonymous 33/56 - 1
15-63046018-A-T c.4379A>T p.H1460L Missense 33/56 - 2
15-63046041-C-T c.4402C>T p.Q1468* Nonsense 33/56 - 1
15-63046042-A-G c.4403A>G p.Q1468R Missense 33/56 - 1
15-63046047-G-A c.4408G>A p.A1470T Missense 33/56 - 3
15-63046048-C-T c.4409C>T p.A1470V Missense 33/56 - 1
15-63046054-C-A c.4415C>A p.A1472D Missense 33/56 - 1
15-63046059-C-T c.4420C>T p.Q1474* Nonsense 33/56 - 1
15-63046061-G-C c.4422G>C p.Q1474H Missense 33/56 - 1
15-63046061-G-T c.4422G>T p.Q1474H Missense 33/56 - 2
15-63046063-C-T c.4424C>T p.A1475V Missense 33/56 - 1
15-63046065-A-T c.4426A>T p.I1476F Missense 33/56 - 1
15-63046071-A-G c.4432A>G p.M1478V Missense 33/56 - 1
15-63046094-C-T c.4455C>T p.D1485= Synonymous 33/56 - 3
15-63046098-GG-AC c.4459_4460delinsAC p.G1487T Missense 33/56 - 1
15-63046105-G-T c.4466G>T p.S1489I Missense 33/56 - 1
15-63046115-G-A c.4476G>A p.Q1492= Synonymous 33/56 - 1
15-63046604-C-T c.4476+489C>T - IntronicSNV - 33/55 1
15-63047733-C-T c.4479C>T p.V1493= Synonymous 34/56 - 4
15-63047738-C-A c.4484C>A p.S1495* Nonsense 34/56 - 1
15-63047741-C-T c.4487C>T p.A1496V Missense 34/56 - 2
15-63047743-G-A c.4489G>A p.A1497T Missense 34/56 - 2
15-63047749-A-G c.4495A>G p.I1499V Missense 34/56 - 1
15-63047765-C-T c.4511C>T p.T1504M Missense 34/56 - 1
15-63047768-C-A c.4514C>A p.S1505* Nonsense 34/56 - 1
15-63047768-C-G c.4514C>G p.S1505* Nonsense 34/56 - 1
15-63047770-G-T c.4516G>T p.A1506S Missense 34/56 - 1
15-63047776-TG-AC c.4522_4523delinsAC p.C1508T Missense 34/56 - 1
15-63047778-C-T c.4524C>T p.C1508= Synonymous 34/56 - 18
15-63047785-TG-AC c.4531_4532delinsAC p.C1511T Missense 34/56 - 1
15-63047787-C-T c.4533C>T p.C1511= Synonymous 34/56 - 1
15-63047788-CGC-GAG c.4534_4536delinsGAG p.R1512E Missense 34/56 - 1
15-63047788-CGC-TGG c.4534_4536delinsTGG p.R1512W Missense 34/56 - 1
15-63047788-C-T c.4534C>T p.R1512C Missense 34/56 - 1
15-63047789-G-A c.4535G>A p.R1512H Missense 34/56 - 1
15-63047792-T-A c.4538T>A p.I1513N Missense 34/56 - 1
15-63047793-C-A c.4539C>A p.I1513= Synonymous 34/56 - 1
15-63047793-C-T c.4539C>T p.I1513= Synonymous 34/56 - 15
15-63047794-G-A c.4540G>A p.A1514T Missense 34/56 - 1
15-63047795-C-G c.4541C>G p.A1514G Missense 34/56 - 1
15-63047795-C-T c.4541C>T p.A1514V Missense 34/56 - 1
15-63047800-T-G c.4546T>G p.S1516A Missense 34/56 - 1
15-63047801-C-G c.4547C>G p.S1516C Missense 34/56 - 1
15-63047804-A-G c.4550A>G p.K1517R Missense 34/56 - 1
15-63047807-C-T c.4553C>T p.T1518M Missense 34/56 - 4
15-63047810-C-T c.4556C>T p.A1519V Missense 34/56 - 2
15-63047816-C-T c.4562C>T p.P1521L Missense 34/56 - 4
15-63047824-A-G c.4570A>G p.K1524E Missense 34/56 - 1
15-63047827-AGG-CAT c.4573_4575delinsCAT p.R1525H Missense 34/56 - 1
15-63047827-A-T c.4573A>T p.R1525W Missense 34/56 - 1
15-63047834-T-C c.4580T>C p.F1527S Missense 34/56 - 1
15-63047835-C-T c.4581C>T p.F1527= Synonymous 34/56 - 1
15-63047838-C-T c.4584C>T p.V1528= Synonymous 34/56 - 1
15-63047846-C-T c.4592C>T p.A1531V Missense 34/56 - 1
15-63047847-C-T c.4593C>T p.A1531= Synonymous 34/56 - 1
15-63047854-G-A c.4600G>A p.V1534I Missense 34/56 - 1
15-63047855-T-A c.4601T>A p.V1534D Missense 34/56 - 1
15-63047857-G-A c.4603G>A p.A1535T Missense 34/56 - 2
15-63047866-A-G c.4612A>G p.T1538A Missense 34/56 - 3
15-63047871-C-A c.4617C>A p.A1539= Synonymous 34/56 - 1
15-63047871-C-G c.4617C>G p.A1539= Synonymous 34/56 - 1
15-63047871-C-T c.4617C>T p.A1539= Synonymous 34/56 - 2
15-63047873-A-G c.4619A>G p.N1540S Missense 34/56 - 1
15-63047874-C-T c.4620C>T p.N1540= Synonymous 34/56 - 1
15-63047887-A-G c.4633A>G p.I1545V Missense 34/56 - 2
15-63047889-C-A c.4635C>A p.I1545= Synonymous 34/56 - 1
15-63047889-C-T c.4635C>T p.I1545= Synonymous 34/56 - 1
15-63047933-C-A c.4638+41C>A - IntronicSNV - 34/55 1
15-63049123-C-A c.4638+1231C>A - IntronicSNV - 34/55 1
15-63053881-C-T c.4640C>T p.A1547V Missense 35/56 - 2
15-63053882-C-T c.4641C>T p.A1547= Synonymous 35/56 - 2
15-63053883-C-A c.4642C>A p.L1548M Missense 35/56 - 2
15-63053886-G-C c.4645G>C p.D1549H Missense 35/56 - 1
15-63053889-G-A c.4648G>A p.G1550R Missense 35/56 - 2
15-63053889-G-C c.4648G>C p.G1550R Missense 35/56 - 2
15-63053890-G-A c.4649G>A p.G1550E Missense 35/56 - 3
15-63053890-G-C c.4649G>C p.G1550A Missense 35/56 - 1
15-63053890-G-T c.4649G>T p.G1550V Missense 35/56 - 1
15-63053892-G-A c.4651G>A p.D1551N Missense 35/56 - 1
15-63053905-A-C c.4664A>C p.D1555A Missense 35/56 - 1
15-63053905-A-G c.4664A>G p.D1555G Missense 35/56 - 1
15-63053910-C-T c.4669C>T p.R1557C Missense 35/56 - 1
15-63053911-G-A c.4670G>A p.R1557H Missense 35/56 - 1
15-63053913-A-G c.4672A>G p.N1558D Missense 35/56 - 1
15-63053917-A-C c.4676A>C p.K1559T Missense 35/56 - 1
15-63053927-C-A c.4686C>A p.I1562= Synonymous 35/56 - 1
15-63053927-C-T c.4686C>T p.I1562= Synonymous 35/56 - 2
15-63053928-G-A c.4687G>A p.A1563T Missense 35/56 - 1
15-63053932-C-T c.4691C>T p.T1564I Missense 35/56 - 1
15-63053935-C-G c.4694C>G p.A1565G Missense 35/56 - 1
15-63053941-T-C c.4700T>C p.L1567S Missense 35/56 - 1
15-63053949-G-A c.4708G>A p.A1570T Missense 35/56 - 1
15-63053949-G-C c.4708G>C p.A1570P Missense 35/56 - 2
15-63053955-G-A c.4714G>A p.E1572K Missense 35/56 - 4
15-63053956-A-T c.4715A>T p.E1572V Missense 35/56 - 1
15-63053959-A-G c.4718A>G p.N1573S Missense 35/56 - 2
15-63053960-C-A c.4719C>A p.N1573K Missense 35/56 - 1
15-63053960-C-G c.4719C>G p.N1573K Missense 35/56 - 1
15-63053961-C-T c.4720C>T p.L1574= Synonymous 35/56 - 1
15-63053966-A-C c.4725A>C p.T1575= Synonymous 35/56 - 1
15-63053966-A-G c.4725A>G p.T1575= Synonymous 35/56 - 1
15-63053966-A-T c.4725A>T p.T1575= Synonymous 35/56 - 1
15-63053967-G-A c.4726G>A p.A1576T Missense 35/56 - 2
15-63053973-G-A c.4732G>A p.A1578T Missense 35/56 - 1
15-63053987-G-A c.4746G>A p.E1582= Synonymous 35/56 - 1
15-63053988-T-C c.4747T>C p.F1583L Missense 35/56 - 1
15-63053990-T-A c.4749T>A p.F1583L Missense 35/56 - 1
15-63053990-T-G c.4749T>G p.F1583L Missense 35/56 - 1
15-63053997-A-G c.4756A>G p.I1586V Missense 35/56 - 2
15-63054001-C-T c.4760C>T p.P1587L Missense 35/56 - 1
15-63054011-C-T c.4770C>T p.I1590= Synonymous 35/56 - 1
15-63054013-G-A c.4772G>A p.S1591N Missense 35/56 - 1
15-63054017-C-A c.4776C>A p.S1592= Synonymous 35/56 - 1
15-63054017-C-G c.4776C>G p.S1592= Synonymous 35/56 - 1
15-63054017-C-T c.4776C>T p.S1592= Synonymous 35/56 - 1
15-63054018-G-A c.4777G>A p.E1593K Missense 35/56 - 2
15-63054069-G-T c.4779+49G>T - IntronicSNV - 35/55 1
15-63054471-G-T c.4780G>T p.G1594C Missense 36/56 - 1
15-63054475-C-T c.4784C>T p.S1595F Missense 36/56 - 2
15-63054477-C-T c.4786C>T p.Q1596* Nonsense 36/56 - 6
15-63054490-C-T c.4799C>T p.P1600L Missense 36/56 - 1
15-63054495-C-T c.4804C>T p.L1602= Synonymous 36/56 - 1
15-63054500-C-A c.4809C>A p.V1603= Synonymous 36/56 - 1
15-63054500-C-G c.4809C>G p.V1603= Synonymous 36/56 - 1
15-63054500-C-T c.4809C>T p.V1603= Synonymous 36/56 - 1
15-63054502-C-T c.4811C>T p.S1604L Missense 36/56 - 1
15-63054504-G-A c.4813G>A p.A1605T Missense 36/56 - 1
15-63054504-G-T c.4813G>T p.A1605S Missense 36/56 - 4
15-63054511-C-T c.4820C>T p.T1607I Missense 36/56 - 4
15-63054515-G-A c.4824G>A p.M1608I Missense 36/56 - 1
15-63054515-G-C c.4824G>C p.M1608I Missense 36/56 - 1
15-63054515-G-T c.4824G>T p.M1608I Missense 36/56 - 1
15-63054516-C-T c.4825C>T p.L1609= Synonymous 36/56 - 1
15-63054529-C-T c.4838C>T p.S1613L Missense 36/56 - 4
15-63054540-C-T c.4849C>T p.R1617C Missense 36/56 - 2
15-63054541-G-A c.4850G>A p.R1617H Missense 36/56 - 1
15-63054546-G-A c.4855G>A p.A1619T Missense 36/56 - 2
15-63054547-C-T c.4856C>T p.A1619V Missense 36/56 - 1
15-63054549-C-T c.4858C>T p.R1620C Missense 36/56 - 2
15-63054555-C-G c.4864C>G p.L1622V Missense 36/56 - 1
15-63054564-A-G c.4873A>G p.N1625D Missense 36/56 - 2
15-63054564-A-T c.4873A>T p.N1625Y Missense 36/56 - 1
15-63054573-G-T c.4882G>T p.D1628Y Missense 36/56 - 1
15-63054574-A-G c.4883A>G p.D1628G Missense 36/56 - 1
15-63054586-G-T c.4895G>T p.W1632L Missense 36/56 - 1
15-63054589-C-T c.4898C>T p.S1633F Missense 36/56 - 5
15-63054598-C-T c.4907C>T p.A1636V Missense 36/56 - 1
15-63054608-C-A c.4917C>A p.S1639= Synonymous 36/56 - 1
15-63054608-C-G c.4917C>G p.S1639= Synonymous 36/56 - 1
15-63054608-C-T c.4917C>T p.S1639= Synonymous 36/56 - 2
15-63054609-C-T c.4918C>T p.H1640Y Missense 36/56 - 4
15-63054619-C-A c.4928C>A p.S1643Y Missense 36/56 - 1
15-63054620-C-A c.4929C>A p.S1643= Synonymous 36/56 - 2
15-63054620-C-G c.4929C>G p.S1643= Synonymous 36/56 - 2
15-63054620-C-T c.4929C>T p.S1643= Synonymous 36/56 - 4
15-63054621-G-A c.4930G>A p.D1644N Missense 36/56 - 9
15-63054637-T-C c.4946T>C p.L1649P Missense 36/56 - 2
15-63054641-C-T c.4950C>T p.I1650= Synonymous 36/56 - 2
15-63054646-C-G c.4955C>G p.S1652C Missense 36/56 - 1
15-63054647-T-G c.4956T>G p.S1652= Synonymous 36/56 - 1
15-63054650-C-G c.4959C>G p.I1653M Missense 36/56 - 1
15-63054651-AG-CA c.4960_4961delinsCA p.R1654Q Missense 36/56 - 1
15-63055766-A-C c.4966A>C p.K1656Q Missense 37/56 - 3
15-63055771-C-A c.4971C>A p.A1657= Synonymous 37/56 - 1
15-63055771-C-G c.4971C>G p.A1657= Synonymous 37/56 - 1
15-63055771-C-T c.4971C>T p.A1657= Synonymous 37/56 - 1
15-63055787-T-C c.4987T>C p.C1663R Missense 37/56 - 1
15-63055788-G-T c.4988G>T p.C1663F Missense 37/56 - 1
15-63055795-C-A c.4995C>A p.Y1665* Nonsense 37/56 - 1
15-63055795-C-G c.4995C>G p.Y1665* Nonsense 37/56 - 1
15-63055798-C-A c.4998C>A p.S1666= Synonymous 37/56 - 2
15-63055802-G-A c.5002G>A p.D1668N Missense 37/56 - 3
15-63055813-C-T c.5013C>T p.N1671= Synonymous 37/56 - 1
15-63055814-C-T c.5014C>T p.R1672W Missense 37/56 - 2
15-63055815-G-A c.5015G>A p.R1672Q Missense 37/56 - 2
15-63055823-C-A c.5023C>A p.R1675= Synonymous 37/56 - 1
15-63055823-C-T c.5023C>T p.R1675W Missense 37/56 - 2
15-63055825-G-A c.5025G>A p.R1675= Synonymous 37/56 - 1
15-63055825-G-C c.5025G>C p.R1675= Synonymous 37/56 - 1
15-63055825-G-T c.5025G>T p.R1675= Synonymous 37/56 - 1
15-63055824-G-A c.5024G>A p.R1675Q Missense 37/56 - 1
15-63055826-G-A c.5026G>A p.D1676N Missense 37/56 - 2
15-63055828-C-A c.5028C>A p.D1676E Missense 37/56 - 1
15-63055828-C-G c.5028C>G p.D1676E Missense 37/56 - 1
15-63055832-G-A c.5032G>A p.E1678K Missense 37/56 - 2
15-63055842-C-T c.5042C>T p.S1681L Missense 37/56 - 1
15-63055848-C-A c.5048C>A p.A1683D Missense 37/56 - 1
15-63055849-C-A c.5049C>A p.A1683= Synonymous 37/56 - 2
15-63055849-C-G c.5049C>G p.A1683= Synonymous 37/56 - 2
15-63055849-C-T c.5049C>T p.A1683= Synonymous 37/56 - 3
15-63055850-G-A c.5050G>A p.A1684T Missense 37/56 - 1
15-63055861-G-C c.5061G>C p.Q1687H Missense 37/56 - 1
15-63055861-G-T c.5061G>T p.Q1687H Missense 37/56 - 1
15-63055864-C-T c.5064C>T p.S1688= Synonymous 37/56 - 1
15-63055872-C-T c.5072C>T p.T1691M Missense 37/56 - 4
15-63055876-G-A c.5076G>A p.R1692= Synonymous 37/56 - 2
15-63055879-C-A c.5079C>A p.D1693E Missense 37/56 - 1
15-63055885-C-A c.5085C>A p.I1695= Synonymous 37/56 - 1
15-63055885-C-T c.5085C>T p.I1695= Synonymous 37/56 - 1
15-63055899-G-T c.5094+5G>T - IntronicSNV - 37/55 1
15-63056159-A-T c.5094+265A>T - IntronicSNV - 37/55 1
15-63058521-C-T c.5096C>T p.A1699V Missense 38/56 - 3
15-63058522-C-A c.5097C>A p.A1699= Synonymous 38/56 - 1
15-63058522-C-G c.5097C>G p.A1699= Synonymous 38/56 - 1
15-63058522-C-T c.5097C>T p.A1699= Synonymous 38/56 - 3
15-63058539-C-T c.5114C>T p.T1705I Missense 38/56 - 1
15-63058539-CT-TG c.5114_5115delinsTG p.T1705M Missense 38/56 - 1
15-63058542-C-T c.5117C>T p.S1706L Missense 38/56 - 4
15-63058546-G-C c.5121G>C p.V1707= Synonymous 38/56 - 1
15-63058558-C-T c.5133C>T p.I1711= Synonymous 38/56 - 3
15-63058560-G-A c.5135G>A p.G1712E Missense 38/56 - 6
15-63058570-C-A c.5145C>A p.I1715= Synonymous 38/56 - 1
15-63058570-C-T c.5145C>T p.I1715= Synonymous 38/56 - 1
15-63058571-G-A c.5146G>A p.D1716N Missense 38/56 - 2
15-63058585-A-C c.5160A>C p.T1720= Synonymous 38/56 - 1
15-63058585-A-G c.5160A>G p.T1720= Synonymous 38/56 - 1
15-63058585-A-T c.5160A>T p.T1720= Synonymous 38/56 - 1
15-63058588-G-A c.5163G>A p.A1721= Synonymous 38/56 - 2
15-63058588-G-C c.5163G>C p.A1721= Synonymous 38/56 - 1
15-63058588-G-T c.5163G>T p.A1721= Synonymous 38/56 - 1
15-63058591-T-TTTGGGGTTTCCGCC c.5166_5167insTTGGGGTTTCCGCC p.R1723Lfs*16 Frameshift 38/56 - 1
15-63058592-C-T c.5167C>T p.R1723W Missense 38/56 - 5
15-63058594-G-C c.5169G>C p.R1723= Synonymous 38/56 - 1
15-63058594-G-T c.5169G>T p.R1723= Synonymous 38/56 - 1
15-63058593-G-A c.5168G>A p.R1723Q Missense 38/56 - 2
15-63058593-G-T c.5168G>T p.R1723L Missense 38/56 - 2
15-63058598-G-A c.5173G>A p.E1725K Missense 38/56 - 1
15-63058602-C-G c.5177C>G p.A1726G Missense 38/56 - 1
15-63063163-G-A c.5197G>A p.V1733M Missense 39/56 - 3
15-63063164-T-G c.5198T>G p.V1733G Missense 39/56 - 1
15-63063166-A-T c.5200A>T p.T1734S Missense 39/56 - 1
15-63063169-C-A c.5203C>A p.Q1735K Missense 39/56 - 1
15-63063172-C-A c.5206C>A p.L1736M Missense 39/56 - 1
15-63063172-C-T c.5206C>T p.L1736= Synonymous 39/56 - 1
15-63063174-G-A c.5208G>A p.L1736= Synonymous 39/56 - 1
15-63063174-G-C c.5208G>C p.L1736= Synonymous 39/56 - 1
15-63063174-G-T c.5208G>T p.L1736= Synonymous 39/56 - 1
15-63063176-C-T c.5210C>T p.A1737V Missense 39/56 - 1
15-63063179-G-A c.5213G>A p.S1738N Missense 39/56 - 1
15-63063182-A-C c.5216A>C p.Y1739S Missense 39/56 - 2
15-63063183-T-C c.5217T>C p.Y1739= Synonymous 39/56 - 1
15-63063187-G-A c.5221G>A p.E1741K Missense 39/56 - 1
15-63063205-G-A c.5239G>A p.A1747T Missense 39/56 - 2
15-63063218-C-T c.5252C>T p.A1751V Missense 39/56 - 1
15-63063221-C-A c.5255C>A p.S1752Y Missense 39/56 - 1
15-63063229-C-A c.5263C>A p.L1755I Missense 39/56 - 1
15-63063229-C-G c.5263C>G p.L1755V Missense 39/56 - 6
15-63063235-C-T c.5269C>T p.H1757Y Missense 39/56 - 2
15-63063238-C-T c.5272C>T p.Q1758* Nonsense 39/56 - 1
15-63063242-A-T c.5276A>T p.Q1759L Missense 39/56 - 1
15-63063248-T-C c.5282T>C p.M1761T Missense 39/56 - 1
15-63063252-G-A c.5286G>A p.T1762= Synonymous 39/56 - 1
15-63063252-G-C c.5286G>C p.T1762= Synonymous 39/56 - 1
15-63063252-G-T c.5286G>T p.T1762= Synonymous 39/56 - 1
15-63063253-GTGCTGGACCAGACCAAGACTCTCGCAGAGTCTGCCT-G c.5291_5326del p.L1764_L1775del InFrameDeletion 39/56 - 1
15-63063256-C-T c.5290C>T p.L1764= Synonymous 39/56 - 1
15-63063258-G-A c.5292G>A p.L1764= Synonymous 39/56 - 1
15-63063258-G-C c.5292G>C p.L1764= Synonymous 39/56 - 1
15-63063258-G-T c.5292G>T p.L1764= Synonymous 39/56 - 1
15-63063259-G-T c.5293G>T p.D1765Y Missense 39/56 - 1
15-63063265-ACC-GAG c.5299_5301delinsGAG p.T1767E Missense 39/56 - 1
15-63063265-A-ACCTTGGGGTTTCCG c.5301_5302insTTGGGGTTTCCGCC p.K1768Lfs*41 Frameshift 39/56 - 1
15-63063273-T-A c.5307T>A p.T1769= Synonymous 39/56 - 2
15-63063273-T-C c.5307T>C p.T1769= Synonymous 39/56 - 2
15-63063273-T-G c.5307T>G p.T1769= Synonymous 39/56 - 2
15-63063276-C-T c.5310C>T p.L1770= Synonymous 39/56 - 1
15-63063277-G-A c.5311G>A p.A1771T Missense 39/56 - 1
15-63063278-C-T c.5312C>T p.A1771V Missense 39/56 - 1
15-63063288-C-A c.5322C>A p.A1774= Synonymous 39/56 - 1
15-63063288-C-G c.5322C>G p.A1774= Synonymous 39/56 - 1
15-63063288-C-T c.5322C>T p.A1774= Synonymous 39/56 - 1
15-63063294-G-T c.5328G>T p.Q1776H Missense 39/56 - 1
15-63063295-A-G c.5329A>G p.M1777V Missense 39/56 - 1
15-63063307-G-A c.5341G>A p.A1781T Missense 39/56 - 1
15-63063321-C-A c.5355C>A p.G1785= Synonymous 39/56 - 2
15-63063321-C-G c.5355C>G p.G1785= Synonymous 39/56 - 2
15-63063321-C-T c.5355C>T p.G1785= Synonymous 39/56 - 3
15-63063322-G-A c.5356G>A p.G1786R Missense 39/56 - 1
15-63063323-G-A c.5357G>A p.G1786E Missense 39/56 - 1
15-63064628-A-C c.5367+1295A>C - IntronicSNV - 39/55 1
15-63065408-C-G c.5367+2075C>G - IntronicSNV - 39/55 1
15-63068979-A-G c.5384A>G p.D1795G Missense 40/56 - 1
15-63068995-C-A c.5400C>A p.A1800= Synonymous 40/56 - 2
15-63068995-C-G c.5400C>G p.A1800= Synonymous 40/56 - 1
15-63068995-C-T c.5400C>T p.A1800= Synonymous 40/56 - 2
15-63068996-G-A c.5401G>A p.A1801T Missense 40/56 - 1
15-63069010-G-A c.5415G>A p.K1805= Synonymous 40/56 - 1
15-63069014-G-A c.5419G>A p.A1807T Missense 40/56 - 3
15-63069015-C-T c.5420C>T p.A1807V Missense 40/56 - 3
15-63069030-T-C c.5435T>C p.M1812T Missense 40/56 - 2
15-63069036-C-T c.5441C>T p.T1814M Missense 40/56 - 2
15-63069037-G-A c.5442G>A p.T1814= Synonymous 40/56 - 1
15-63069037-G-C c.5442G>C p.T1814= Synonymous 40/56 - 1
15-63069038-C-T c.5443C>T p.L1815= Synonymous 40/56 - 2
15-63069040-G-A c.5445G>A p.L1815= Synonymous 40/56 - 2
15-63069040-G-C c.5445G>C p.L1815= Synonymous 40/56 - 2
15-63069040-G-T c.5445G>T p.L1815= Synonymous 40/56 - 2
15-63069042-A-G c.5447A>G p.N1816S Missense 40/56 - 1
15-63069044-G-A c.5449G>A p.E1817K Missense 40/56 - 3
15-63069054-G-C c.5459G>C p.S1820T Missense 40/56 - 1
15-63069058-A-C c.5463A>C p.E1821D Missense 40/56 - 1
15-63069062-G-A c.5467G>A p.G1823R Missense 40/56 - 1
15-63069079-G-T c.5484G>T p.M1828I Missense 40/56 - 1
15-63069082-G-A c.5487G>A p.V1829= Synonymous 40/56 - 2
15-63069082-G-C c.5487G>C p.V1829= Synonymous 40/56 - 2
15-63069082-G-T c.5487G>T p.V1829= Synonymous 40/56 - 3
15-63069085-C-T c.5490C>T p.D1830= Synonymous 40/56 - 1
15-63069092-G-A c.5497G>A p.A1833T Missense 40/56 - 1
15-63069092-G-C c.5497G>C p.A1833P Missense 40/56 - 1
15-63069097-A-C c.5502A>C p.E1834D Missense 40/56 - 1
15-63069097-A-T c.5502A>T p.E1834D Missense 40/56 - 1
15-63069098-G-A c.5503G>A p.A1835T Missense 40/56 - 1
15-63069108-A-T c.5513A>T p.K1838M Missense 40/56 - 3
15-63069113-G-C c.5514+4G>C - IntronicSNV - 40/55 1
15-63073340-TG-T c.5518del p.D1840Mfs*28 Frameshift 41/56 - 1
15-63073346-A-G c.5522A>G p.E1841G Missense 41/56 - 1
15-63073353-T-A c.5529T>A p.T1843= Synonymous 41/56 - 1
15-63073353-T-C c.5529T>C p.T1843= Synonymous 41/56 - 1
15-63073353-T-G c.5529T>G p.T1843= Synonymous 41/56 - 1
15-63073355-C-T c.5531C>T p.P1844L Missense 41/56 - 4
15-63073358-CAGA-C c.5536_5538del p.E1846del InFrameDeletion 41/56 - 1
15-63073360-G-A c.5536G>A p.E1846K Missense 41/56 - 2
15-63073360-G-T c.5536G>T p.E1846* Nonsense 41/56 - 1
15-63073368-G-T c.5544G>T p.K1848N Missense 41/56 - 1
15-63073370-G-C c.5546G>C p.G1849A Missense 41/56 - 1
15-63073380-C-T c.5556C>T p.V1852= Synonymous 41/56 - 1
15-63073381-G-T c.5557G>T p.D1853Y Missense 41/56 - 4
15-63073391-C-T c.5567C>T p.T1856M Missense 41/56 - 2
15-63073393-A-G c.5569A>G p.T1857A Missense 41/56 - 1
15-63073394-C-A c.5570C>A p.T1857N Missense 41/56 - 1
15-63073394-CTG-C c.5573_5574del p.V1858Gfs*2 Frameshift 41/56 - 1
15-63073398-G-GATC c.5574_5575insATC p.V1858_V1859insI InFrameInsertion 41/56 - 1
15-63073398-G-T c.5574G>T p.V1858= Synonymous 41/56 - 1
15-63073403-A-C c.5579A>C p.K1860T Missense 41/56 - 1
15-63073404-A-G c.5580A>G p.K1860= Synonymous 41/56 - 1
15-63073407-C-T c.5583C>T p.Y1861= Synonymous 41/56 - 1
15-63073409-C-T c.5585C>T p.S1862F Missense 41/56 - 1
15-63073410-C-G c.5586C>G p.S1862= Synonymous 41/56 - 1
15-63073421-C-T c.5597C>T p.A1866V Missense 41/56 - 1
15-63073422-G-A c.5598G>A p.A1866= Synonymous 41/56 - 1
15-63073422-G-C c.5598G>C p.A1866= Synonymous 41/56 - 1
15-63073422-G-T c.5598G>T p.A1866= Synonymous 41/56 - 1
15-63073435-G-A c.5611G>A p.E1871K Missense 41/56 - 1
15-63073437-A-C c.5613A>C p.E1871D Missense 41/56 - 1
15-63073437-A-T c.5613A>T p.E1871D Missense 41/56 - 1
15-63073463-T-A c.5616+23T>A - IntronicSNV - 41/55 1
15-63073554-G-A c.5616+114G>A - IntronicSNV - 41/55 1
15-63073639-T-A c.5616+199T>A - IntronicSNV - 41/55 1
15-63075980-C-T c.5627C>T p.S1876L Missense 42/56 - 1
15-63075982-G-A c.5629G>A p.V1877I Missense 42/56 - 1
15-63075989-A-C c.5636A>C p.N1879T Missense 42/56 - 1
15-63075992-C-T c.5639C>T p.P1880L Missense 42/56 - 3
15-63075993-G-A c.5640G>A p.P1880= Synonymous 42/56 - 1
15-63075993-G-C c.5640G>C p.P1880= Synonymous 42/56 - 1
15-63075993-G-T c.5640G>T p.P1880= Synonymous 42/56 - 1
15-63076003-G-T c.5650G>T p.G1884* Nonsense 42/56 - 1
15-63076004-G-A c.5651G>A p.G1884E Missense 42/56 - 1
15-63076007-G-C c.5654G>C p.G1885A Missense 42/56 - 1
15-63076008-A-C c.5655A>C p.G1885= Synonymous 42/56 - 1
15-63076008-A-G c.5655A>G p.G1885= Synonymous 42/56 - 1
15-63076008-A-T c.5655A>T p.G1885= Synonymous 42/56 - 1
15-63076012-G-A c.5659G>A p.A1887T Missense 42/56 - 1
15-63076012-G-C c.5659G>C p.A1887P Missense 42/56 - 1
15-63076019-A-C c.5666A>C p.Q1889P Missense 42/56 - 1
15-63076025-C-T c.5672C>T p.T1891I Missense 42/56 - 1
15-63076028-G-C c.5675G>C p.S1892T Missense 42/56 - 3
15-63076029-T-A c.5676T>A p.S1892R Missense 42/56 - 1
15-63076037-G-A c.5684G>A p.G1895E Missense 42/56 - 4
15-63076039-C-T c.5686C>T p.H1896Y Missense 42/56 - 1
15-63076048-T-C c.5695T>C p.F1899L Missense 42/56 - 1
15-63076050-C-A c.5697C>A p.F1899L Missense 42/56 - 1
15-63076050-C-G c.5697C>G p.F1899L Missense 42/56 - 1
15-63076054-G-A c.5701G>A p.G1901S Missense 42/56 - 1
15-63076055-G-A c.5702G>A p.G1901D Missense 42/56 - 1
15-63076065-A-G c.5712A>G p.A1904= Synonymous 42/56 - 1
15-63076067-C-T c.5714C>T p.A1905V Missense 42/56 - 1
15-63076069-G-A c.5716G>A p.A1906T Missense 42/56 - 2
15-63076073-C-T c.5720C>T p.T1907M Missense 42/56 - 1
15-63076075-G-A c.5722G>A p.A1908T Missense 42/56 - 1
15-63076076-C-T c.5723C>T p.A1908V Missense 42/56 - 1
15-63076078-G-T c.5725G>T p.E1909* Nonsense 42/56 - 1
15-63076081-C-A c.5728C>A p.P1910T Missense 42/56 - 1
15-63076082-C-T c.5729C>T p.P1910L Missense 42/56 - 1
15-63076090-G-T c.5736+1G>T - IntronicSNV - 42/55 2
15-63076351-T-C c.5736+262T>C - IntronicSNV - 42/55 1
15-63078708-T-TA c.5736+2626dup - IntronicInsertion - 42/55 1
15-63084842-C-A c.5739C>A p.I1913= Synonymous 43/56 - 1
15-63084842-C-T c.5739C>T p.I1913= Synonymous 43/56 - 1
15-63084844-G-T c.5741G>T p.G1914V Missense 43/56 - 1
15-63084847-T-G c.5744T>G p.F1915C Missense 43/56 - 2
15-63084861-C-G c.5758C>G p.R1920G Missense 43/56 - 1
15-63084861-C-T c.5758C>T p.R1920C Missense 43/56 - 1
15-63084862-G-A c.5759G>A p.R1920H Missense 43/56 - 2
15-63084879-C-T c.5776C>T p.H1926Y Missense 43/56 - 1
15-63084881-C-T c.5778C>T p.H1926= Synonymous 43/56 - 3
15-63084882-G-A c.5779G>A p.G1927S Missense 43/56 - 1
15-63084882-G-T c.5779G>T p.G1927C Missense 43/56 - 2
15-63084883-G-A c.5780G>A p.G1927D Missense 43/56 - 1
15-63084889-T-G c.5786T>G p.I1929S Missense 43/56 - 1
15-63084894-C-T c.5791C>T p.L1931= Synonymous 43/56 - 1
15-63084896-G-A c.5793G>A p.L1931= Synonymous 43/56 - 1
15-63084896-G-C c.5793G>C p.L1931= Synonymous 43/56 - 1
15-63084896-G-T c.5793G>T p.L1931= Synonymous 43/56 - 1
15-63084905-G-C c.5802G>C p.K1934N Missense 43/56 - 2
15-63084911-G-A c.5808G>A p.G1936= Synonymous 43/56 - 1
15-63084911-G-C c.5808G>C p.G1936= Synonymous 43/56 - 1
15-63084911-G-T c.5808G>T p.G1936= Synonymous 43/56 - 1
15-63084914-C-T c.5811C>T p.A1937= Synonymous 43/56 - 2
15-63084917-C-A c.5814C>A p.L1938= Synonymous 43/56 - 1
15-63084917-C-G c.5814C>G p.L1938= Synonymous 43/56 - 1
15-63084917-C-T c.5814C>T p.L1938= Synonymous 43/56 - 1
15-63084918-C-T c.5815C>T p.Q1939* Nonsense 43/56 - 1
15-63084921-G-T c.5818G>T p.V1940F Missense 43/56 - 1
15-63084930-A-C c.5827A>C p.T1943P Missense 43/56 - 1
15-63084938-C-A c.5835C>A p.S1945R Missense 43/56 - 1
15-63084943-C-T c.5840C>T p.T1947I Missense 43/56 - 1
15-63084950-G-A c.5847G>A p.R1949= Synonymous 43/56 - 1
15-63084952-A-G c.5849A>G p.E1950G Missense 43/56 - 1
15-63084959-C-A c.5856C>A p.I1952= Synonymous 43/56 - 2
15-63084959-C-T c.5856C>T p.I1952= Synonymous 43/56 - 4
15-63084960-G-A c.5857G>A p.E1953K Missense 43/56 - 1
15-63084970-G-A c.5867G>A p.R1956H Missense 43/56 - 2
15-63084975-G-A c.5872G>A p.V1958I Missense 43/56 - 2
15-63084979-C-T c.5876C>T p.T1959M Missense 43/56 - 4
15-63084980-G-A c.5877G>A p.T1959= Synonymous 43/56 - 1
15-63084980-G-C c.5877G>C p.T1959= Synonymous 43/56 - 1
15-63084981-G-A c.5878G>A p.E1960K Missense 43/56 - 1
15-63084986-G-C c.5883G>C p.K1961N Missense 43/56 - 1
15-63084986-G-T c.5883G>T p.K1961N Missense 43/56 - 2
15-63084991-G-A c.5883+5G>A - IntronicSNV - 43/55 1
15-63088326-G-A c.5884G>A p.V1962I Missense 44/56 - 2
15-63088330-C-T c.5888C>T p.S1963F Missense 44/56 - 1
15-63088343-G-A c.5901G>A p.S1967= Synonymous 44/56 - 1
15-63088356-G-A c.5914G>A p.G1972R Missense 44/56 - 1
15-63088356-G-C c.5914G>C p.G1972R Missense 44/56 - 1
15-63088357-G-T c.5915G>T p.G1972V Missense 44/56 - 1
15-63088374-G-T c.5932G>T p.A1978S Missense 44/56 - 1
15-63088387-C-T c.5945C>T p.A1982V Missense 44/56 - 1
15-63088389-G-A c.5947G>A p.A1983T Missense 44/56 - 1
15-63088398-G-T c.5956G>T p.V1986L Missense 44/56 - 1
15-63088400-G-A c.5958G>A p.V1986= Synonymous 44/56 - 1
15-63088404-G-A c.5962G>A p.G1988R Missense 44/56 - 1
15-63088404-G-C c.5962G>C p.G1988R Missense 44/56 - 1
15-63088415-C-T c.5973C>T p.A1991= Synonymous 44/56 - 1
15-63088416-G-A c.5974G>A p.D1992N Missense 44/56 - 2
15-63088422-G-A c.5980G>A p.D1994N Missense 44/56 - 1
15-63088424-C-T c.5982C>T p.D1994= Synonymous 44/56 - 1
15-63088445-A-C c.6003A>C p.T2001= Synonymous 44/56 - 1
15-63088445-A-G c.6003A>G p.T2001= Synonymous 44/56 - 1
15-63088445-A-T c.6003A>T p.T2001= Synonymous 44/56 - 1
15-63088446-G-A c.6004G>A p.A2002T Missense 44/56 - 1
15-63088447-C-T c.6005C>T p.A2002V Missense 44/56 - 2
15-63088448-G-A c.6006G>A p.A2002= Synonymous 44/56 - 2
15-63088448-G-C c.6006G>C p.A2002= Synonymous 44/56 - 1
15-63088448-G-T c.6006G>T p.A2002= Synonymous 44/56 - 2
15-63088449-G-A c.6007G>A p.G2003R Missense 44/56 - 1
15-63088450-G-A c.6008G>A p.G2003E Missense 44/56 - 2
15-63088450-G-C c.6008G>C p.G2003A Missense 44/56 - 1
15-63088453-C-T c.6011C>T p.T2004M Missense 44/56 - 1
15-63088475-G-A c.6033G>A p.E2011= Synonymous 44/56 - 1
15-63088477-C-A c.6035C>A p.T2012N Missense 44/56 - 1
15-63088482-G-A c.6040G>A p.A2014T Missense 44/56 - 3
15-63088487-C-A c.6045C>A p.D2015E Missense 44/56 - 1
15-63088487-C-G c.6045C>G p.D2015E Missense 44/56 - 1
15-63088497-G-A c.6050+5G>A - IntronicSNV - 44/55 1
15-63088516-A-G c.6050+24A>G - IntronicSNV - 44/55 1
15-63089433-G-A c.6066G>A p.K2022= Synonymous 45/56 - 1
15-63089435-C-T c.6068C>T p.T2023M Missense 45/56 - 2
15-63089436-G-A c.6069G>A p.T2023= Synonymous 45/56 - 1
15-63089437-G-A c.6070G>A p.A2024T Missense 45/56 - 1
15-63089443-G-A c.6076G>A p.A2026T Missense 45/56 - 1
15-63089448-G-A c.6081G>A p.L2027= Synonymous 45/56 - 1
15-63089452-G-T c.6085G>T p.E2029* Nonsense 45/56 - 2
15-63089455-G-C c.6088G>C p.D2030H Missense 45/56 - 1
15-63089455-G-T c.6088G>T p.D2030Y Missense 45/56 - 1
15-63089459-C-T c.6092C>T p.T2031M Missense 45/56 - 1
15-63089460-G-A c.6093G>A p.T2031= Synonymous 45/56 - 5
15-63089464-C-T c.6097C>T p.L2033= Synonymous 45/56 - 1
15-63089467-CT-C c.6102del p.V2035Cfs*47 Frameshift 45/56 - 1
15-63089470-TG-T c.6103del p.V2035Cfs*47 Frameshift 45/56 - 1
15-63089473-T-G c.6106T>G p.S2036A Missense 45/56 - 1
15-63089477-G-A c.6110G>A p.G2037E Missense 45/56 - 1
15-63089479-G-A c.6112G>A p.A2038T Missense 45/56 - 1
15-63089480-GC-G c.6113del p.A2038Vfs*44 Frameshift 45/56 - 1
15-63089481-T-A c.6114T>A p.A2038= Synonymous 45/56 - 2
15-63089481-T-C c.6114T>C p.A2038= Synonymous 45/56 - 1
15-63089481-T-G c.6114T>G p.A2038= Synonymous 45/56 - 1
15-63089482-G-GGA c.6115_6116insGA p.A2039Gfs*44 Frameshift 45/56 - 1
15-63089483-C-T c.6116C>T p.A2039V Missense 45/56 - 3
15-63089484-G-A c.6117G>A p.A2039= Synonymous 45/56 - 3
15-63089484-G-C c.6117G>C p.A2039= Synonymous 45/56 - 1
15-63089484-G-T c.6117G>T p.A2039= Synonymous 45/56 - 2
15-63089485-GTC-G c.6118_6119del p.S2040Hfs*3 Frameshift 45/56 - 1
15-63089488-A-AG c.6121_6122insG p.T2041Sfs*3 Frameshift 45/56 - 1
15-63089500-C-A c.6133C>A p.L2045M Missense 45/56 - 5
15-63089506-C-T c.6139C>T p.Q2047* Nonsense 45/56 - 1
15-63089511-G-A c.6144G>A p.A2048= Synonymous 45/56 - 3
15-63089519-C-T c.6152C>T p.S2051F Missense 45/56 - 3
15-63089527-G-A c.6160G>A p.A2054T Missense 45/56 - 1
15-63089528-C-T c.6161C>T p.A2054V Missense 45/56 - 1
15-63089531-C-T c.6164C>T p.T2055I Missense 45/56 - 3
15-63089539-C-T c.6172C>T p.Q2058* Nonsense 45/56 - 2
15-63089541-G-A c.6174G>A p.Q2058= Synonymous 45/56 - 1
15-63089545-G-A c.6178G>A p.A2060T Missense 45/56 - 1
15-63089545-G-T c.6178G>T p.A2060S Missense 45/56 - 1
15-63089547-A-C c.6180A>C p.A2060= Synonymous 45/56 - 1
15-63089554-G-T c.6187G>T p.V2063F Missense 45/56 - 1
15-63089561-T-A c.6194T>A p.L2065Q Missense 45/56 - 2
15-63089567-C-T c.6200C>T p.A2067V Missense 45/56 - 1
15-63089569-G-T c.6202G>T p.A2068S Missense 45/56 - 1
15-63089576-T-C c.6209T>C p.L2070P Missense 45/56 - 1
15-63089583-C-T c.6216C>T p.S2072= Synonymous 45/56 - 1
15-63089584-G-A c.6217G>A p.D2073N Missense 45/56 - 4
15-63089588-A-C c.6221A>C p.D2074A Missense 45/56 - 2
15-63089590-C-T c.6223C>T p.P2075S Missense 45/56 - 4
15-63089593-G-A c.6226G>A p.E2076K Missense 45/56 - 1
15-63089599-C-G c.6232C>G p.Q2078E Missense 45/56 - 1
15-63089707-A-G c.6234+106A>G - IntronicSNV - 45/55 2
15-63092570-G-A c.6238G>A p.V2080I Missense 46/56 - 2
15-63092582-G-T c.6250G>T p.A2084S Missense 46/56 - 1
15-63092583-C-T c.6251C>T p.A2084V Missense 46/56 - 2
15-63092584-C-A c.6252C>A p.A2084= Synonymous 46/56 - 1
15-63092584-C-G c.6252C>G p.A2084= Synonymous 46/56 - 1
15-63092584-C-T c.6252C>T p.A2084= Synonymous 46/56 - 1
15-63092585-A-G c.6253A>G p.I2085V Missense 46/56 - 1
15-63092591-G-T c.6259G>T p.D2087Y Missense 46/56 - 1
15-63092597-G-A c.6265G>A p.A2089T Missense 46/56 - 1
15-63092597-G-T c.6265G>T p.A2089S Missense 46/56 - 2
15-63092602-G-C c.6270G>C p.K2090N Missense 46/56 - 1
15-63092602-G-T c.6270G>T p.K2090N Missense 46/56 - 1
15-63092603-GC-TT c.6271_6272delinsTT p.A2091F Missense 46/56 - 1
15-63092603-G-T c.6271G>T p.A2091S Missense 46/56 - 1
15-63092604-C-T c.6272C>T p.A2091V Missense 46/56 - 4
15-63092606-C-T c.6274C>T p.L2092F Missense 46/56 - 1
15-63092612-G-C c.6280G>C p.D2094H Missense 46/56 - 2
15-63092618-A-C c.6286A>C p.I2096L Missense 46/56 - 1
15-63092626-T-C c.6294T>C p.A2098= Synonymous 46/56 - 1
15-63092632-G-A c.6300G>A p.K2100= Synonymous 46/56 - 4
15-63092636-G-C c.6304G>C p.A2102P Missense 46/56 - 1
15-63092641-C-A c.6309C>A p.A2103= Synonymous 46/56 - 1
15-63092641-C-G c.6309C>G p.A2103= Synonymous 46/56 - 1
15-63092641-C-T c.6309C>T p.A2103= Synonymous 46/56 - 1
15-63092642-A-C c.6310A>C p.S2104R Missense 46/56 - 1
15-63092644-C-A c.6312C>A p.S2104R Missense 46/56 - 2
15-63092644-C-G c.6312C>G p.S2104R Missense 46/56 - 1
15-63092654-G-A c.6322G>A p.D2108N Missense 46/56 - 2
15-63092657-G-A c.6325G>A p.D2109N Missense 46/56 - 2
15-63092665-C-T c.6333C>T p.S2111= Synonymous 46/56 - 1
15-63092678-A-C c.6346A>C p.K2116Q Missense 46/56 - 1
15-63092680-G-A c.6348G>A p.K2116= Synonymous 46/56 - 1
15-63092686-T-A c.6354T>A p.A2118= Synonymous 46/56 - 1
15-63092686-T-C c.6354T>C p.A2118= Synonymous 46/56 - 2
15-63092686-T-G c.6354T>G p.A2118= Synonymous 46/56 - 1
15-63092687-G-T c.6355G>T p.A2119S Missense 46/56 - 1
15-63092858-G-A c.6367G>A p.V2123M Missense 47/56 - 2
15-63092865-A-G c.6374A>G p.N2125S Missense 47/56 - 1
15-63092874-C-T c.6383C>T p.S2128L Missense 47/56 - 2
15-63092875-G-A c.6384G>A p.S2128= Synonymous 47/56 - 2
15-63092875-G-C c.6384G>C p.S2128= Synonymous 47/56 - 1
15-63092875-G-T c.6384G>T p.S2128= Synonymous 47/56 - 2
15-63092876-C-T c.6385C>T p.L2129F Missense 47/56 - 1
15-63092888-G-A c.6397G>A p.V2133I Missense 47/56 - 3
15-63092893-G-A c.6402G>A p.K2134= Synonymous 47/56 - 1
15-63092899-G-A c.6408G>A p.V2136= Synonymous 47/56 - 1
15-63092899-G-C c.6408G>C p.V2136= Synonymous 47/56 - 1
15-63092899-G-T c.6408G>T p.V2136= Synonymous 47/56 - 1
15-63092900-G-C c.6409G>C p.E2137Q Missense 47/56 - 11
15-63092906-G-A c.6415G>A p.E2139K Missense 47/56 - 1
15-63092915-C-A c.6424C>A p.R2142= Synonymous 47/56 - 1
15-63092917-G-C c.6426G>C p.R2142= Synonymous 47/56 - 1
15-63092917-G-T c.6426G>T p.R2142= Synonymous 47/56 - 1
15-63092916-G-A c.6425G>A p.R2142Q Missense 47/56 - 2
15-63092917-G-A c.6426G>A p.R2142= Synonymous 47/56 - 2
15-63092921-A-G c.6430A>G p.T2144A Missense 47/56 - 1
15-63092922-C-T c.6431C>T p.T2144I Missense 47/56 - 2
15-63092927-G-A c.6436G>A p.A2146T Missense 47/56 - 1
15-63092928-C-T c.6437C>T p.A2146V Missense 47/56 - 2
15-63092929-G-A c.6438G>A p.A2146= Synonymous 47/56 - 2
15-63092951-A-G c.6460A>G p.I2154V Missense 47/56 - 2
15-63092967-C-T c.6476C>T p.T2159M Missense 47/56 - 2
15-63092968-G-A c.6477G>A p.T2159= Synonymous 47/56 - 1
15-63092968-G-C c.6477G>C p.T2159= Synonymous 47/56 - 1
15-63092968-G-T c.6477G>T p.T2159= Synonymous 47/56 - 1
15-63093034-T-G c.6477+66T>G - IntronicSNV - 47/55 1
15-63093430-C-T c.6477+462C>T - IntronicSNV - 47/55 1
15-63097799-G-A c.6478G>A p.V2160M Missense 48/56 - 2
15-63097800-T-G c.6479T>G p.V2160G Missense 48/56 - 6
15-63097804-C-T c.6483C>T p.F2161= Synonymous 48/56 - 1
15-63097809-C-T c.6488C>T p.S2163L Missense 48/56 - 2
15-63097817-G-A c.6496G>A p.V2166I Missense 48/56 - 1
15-63097823-G-C c.6502G>C p.E2168Q Missense 48/56 - 1
15-63097830-CA-TG c.6509_6510inv p.T2170M Missense 48/56 - 1
15-63097833-C-T c.6512C>T p.S2171L Missense 48/56 - 2
15-63097837-A-C c.6516A>C p.S2172= Synonymous 48/56 - 1
15-63097837-A-G c.6516A>G p.S2172= Synonymous 48/56 - 1
15-63097837-A-T c.6516A>T p.S2172= Synonymous 48/56 - 1
15-63097848-C-T c.6527C>T p.S2176F Missense 48/56 - 2
15-63097849-C-T c.6528C>T p.S2176= Synonymous 48/56 - 1
15-63097855-G-A c.6534G>A p.R2178= Synonymous 48/56 - 2
15-63097860-C-T c.6539C>T p.T2180M Missense 48/56 - 1
15-63097861-G-A c.6540G>A p.T2180= Synonymous 48/56 - 3
15-63097866-G-A c.6545G>A p.G2182D Missense 48/56 - 1
15-63097877-G-C c.6556G>C p.A2186P Missense 48/56 - 1
15-63097889-G-T c.6568G>T p.A2190S Missense 48/56 - 1
15-63097892-G-A c.6571G>A p.V2191M Missense 48/56 - 1
15-63097903-G-A c.6582G>A p.G2194= Synonymous 48/56 - 2
15-63097908-C-T c.6587C>T p.S2196L Missense 48/56 - 1
15-63097912-T-A c.6591T>A p.C2197* Nonsense 48/56 - 2
15-63097917-A-G c.6596A>G p.Q2199R Missense 48/56 - 1
15-63097919-G-A c.6598G>A p.E2200K Missense 48/56 - 2
15-63097924-C-T c.6603C>T p.D2201= Synonymous 48/56 - 1
15-63097931-G-A c.6610G>A p.A2204T Missense 48/56 - 1
15-63097938-C-T c.6617C>T p.A2206V Missense 48/56 - 1
15-63097943-C-T c.6622C>T p.L2208= Synonymous 48/56 - 1
15-63097945-G-A c.6624G>A p.L2208= Synonymous 48/56 - 1
15-63097945-G-C c.6624G>C p.L2208= Synonymous 48/56 - 1
15-63097945-G-T c.6624G>T p.L2208= Synonymous 48/56 - 1
15-63097949-C-A c.6628C>A p.R2210= Synonymous 48/56 - 1
15-63097950-G-A c.6629G>A p.R2210Q Missense 48/56 - 1
15-63097956-C-T c.6635C>T p.A2212V Missense 48/56 - 2
15-63097958-G-A c.6637G>A p.V2213M Missense 48/56 - 1
15-63097959-T-A c.6638T>A p.V2213E Missense 48/56 - 1
15-63098619-CAAATGGA-C c.6663+641_6663+647del - IntronicDeletion - 48/55 1
15-63099038-G-A c.6663+1054G>A - IntronicSNV - 48/55 1
15-63099161-G-A c.6663+1177G>A - IntronicSNV - 48/55 1
15-63099281-A-T c.6663+1297A>T - IntronicSNV - 48/55 1
15-63102125-A-C c.6665A>C p.Q2222P Missense 49/56 - 2
15-63102128-C-T c.6668C>T p.A2223V Missense 49/56 - 1
15-63102131-C-T c.6671C>T p.S2224F Missense 49/56 - 2
15-63102140-C-T c.6680C>T p.P2227L Missense 49/56 - 1
15-63102141-C-A c.6681C>A p.P2227= Synonymous 49/56 - 2
15-63102141-C-G c.6681C>G p.P2227= Synonymous 49/56 - 1
15-63102141-C-T c.6681C>T p.P2227= Synonymous 49/56 - 1
15-63102143-A-G c.6683A>G p.D2228G Missense 49/56 - 1
15-63102145-G-T c.6685G>T p.V2229F Missense 49/56 - 1
15-63102146-T-A c.6686T>A p.V2229D Missense 49/56 - 2
15-63102147-C-T c.6687C>T p.V2229= Synonymous 49/56 - 1
15-63102149-G-A c.6689G>A p.S2230N Missense 49/56 - 1
15-63102153-C-T c.6693C>T p.D2231= Synonymous 49/56 - 1
15-63102154-G-A c.6694G>A p.E2232K Missense 49/56 - 2
15-63102154-G-T c.6694G>T p.E2232* Nonsense 49/56 - 3
15-63102156-G-A c.6696G>A p.E2232= Synonymous 49/56 - 1
15-63102156-GG-AA c.6696_6697delinsAA p.V2233M Missense 49/56 - 1
15-63102157-G-A c.6697G>A p.V2233M Missense 49/56 - 5
15-63102161-G-A c.6701G>A p.R2234K Missense 49/56 - 2
15-63102165-C-T c.6705C>T p.T2235= Synonymous 49/56 - 1
15-63102167-G-A c.6707G>A p.R2236K Missense 49/56 - 1
15-63102170-C-A c.6710C>A p.A2237D Missense 49/56 - 1
15-63102175-C-T c.6715C>T p.R2239C Missense 49/56 - 1
15-63102176-G-A c.6716G>A p.R2239H Missense 49/56 - 16
15-63102180-C-T c.6720C>T p.F2240= Synonymous 49/56 - 7
15-63102181-G-A c.6721G>A p.G2241R Missense 49/56 - 1
15-63102181-G-T c.6721G>T p.G2241W Missense 49/56 - 1
15-63102183-G-T c.6723G>T p.G2241= Synonymous 49/56 - 1
15-63102186-G-A c.6726G>A p.T2242= Synonymous 49/56 - 1
15-63102191-G-T c.6731G>T p.C2244F Missense 49/56 - 1
15-63102195-C-A c.6735C>A p.T2245= Synonymous 49/56 - 2
15-63102195-C-G c.6735C>G p.T2245= Synonymous 49/56 - 1
15-63102195-C-T c.6735C>T p.T2245= Synonymous 49/56 - 1
15-63102199-G-C c.6739G>C p.G2247R Missense 49/56 - 1
15-63102202-T-C c.6742T>C p.Y2248H Missense 49/56 - 1
15-63102204-C-T c.6744C>T p.Y2248= Synonymous 49/56 - 1
15-63102212-T-A c.6752T>A p.L2251H Missense 49/56 - 1
15-63102214-C-T c.6754C>T p.L2252= Synonymous 49/56 - 1
15-63102222-C-T c.6762C>T p.H2254= Synonymous 49/56 - 2
15-63104950-G-T c.6771+2719G>T - IntronicSNV - 49/55 1
15-63105899-A-C c.6771+3668A>C - IntronicSNV - 49/55 1
15-63107546-G-A c.6772-4169G>A - IntronicSNV - 49/55 1
15-63111715-A-C c.6772A>C p.I2258L Missense 50/56 - 1
15-63111715-A-T c.6772A>T p.I2258F Missense 50/56 - 1
15-63111718-C-A c.6775C>A p.L2259I Missense 50/56 - 1
15-63111718-C-T c.6775C>T p.L2259F Missense 50/56 - 5
15-63111723-G-A c.6780G>A p.Q2260= Synonymous 50/56 - 1
15-63111727-C-T c.6784C>T p.P2262S Missense 50/56 - 1
15-63111731-C-A c.6788C>A p.T2263N Missense 50/56 - 1
15-63111731-C-T c.6788C>T p.T2263I Missense 50/56 - 1
15-63111733-C-G c.6790C>G p.P2264A Missense 50/56 - 4
15-63111736-G-A c.6793G>A p.E2265K Missense 50/56 - 2
15-63111739-T-C c.6796T>C p.F2266L Missense 50/56 - 17
15-63111741-C-A c.6798C>A p.F2266L Missense 50/56 - 7
15-63111741-C-G c.6798C>G p.F2266L Missense 50/56 - 7
15-63111741-C-T c.6798C>T p.F2266= Synonymous 50/56 - 3
15-63111757-G-A c.6814G>A p.A2272T Missense 50/56 - 3
15-63111758-C-A c.6815C>A p.A2272D Missense 50/56 - 1
15-63111759-T-C c.6816T>C p.A2272= Synonymous 50/56 - 1
15-63111769-C-T c.6826C>T p.R2276* Nonsense 50/56 - 3
15-63111770-G-A c.6827G>A p.R2276Q Missense 50/56 - 3
15-63111774-C-A c.6831C>A p.V2277= Synonymous 50/56 - 1
15-63111774-C-G c.6831C>G p.V2277= Synonymous 50/56 - 1
15-63111774-C-T c.6831C>T p.V2277= Synonymous 50/56 - 1
15-63111775-G-A c.6832G>A p.A2278T Missense 50/56 - 1
15-63111778-G-A c.6835G>A p.G2279S Missense 50/56 - 10
15-63111780-C-T c.6837C>T p.G2279= Synonymous 50/56 - 1
15-63111781-G-A c.6838G>A p.A2280T Missense 50/56 - 4
15-63111781-G-T c.6838G>T p.A2280S Missense 50/56 - 1
15-63111784-G-A c.6841G>A p.V2281M Missense 50/56 - 1
15-63111784-GTG-ATC c.6841_6843delinsATC p.V2281I Missense 50/56 - 1
15-63111786-G-A c.6843G>A p.V2281= Synonymous 50/56 - 1
15-63111786-G-C c.6843G>C p.V2281= Synonymous 50/56 - 1
15-63111786-G-T c.6843G>T p.V2281= Synonymous 50/56 - 3
15-63111796-A-T c.6853A>T p.I2285F Missense 50/56 - 1
15-63111798-C-T c.6855C>T p.I2285= Synonymous 50/56 - 1
15-63111800-A-C c.6857A>C p.Q2286P Missense 50/56 - 3
15-63111800-A-G c.6857A>G p.Q2286R Missense 50/56 - 4
15-63111801-G-C c.6858G>C p.Q2286H Missense 50/56 - 1
15-63111801-G-T c.6858G>T p.Q2286H Missense 50/56 - 1
15-63111803-C-T c.6860C>T p.A2287V Missense 50/56 - 1
15-63111806-C-T c.6863C>T p.A2288V Missense 50/56 - 1
15-63111811-G-A c.6868G>A p.A2290T Missense 50/56 - 1
15-63111814-A-G c.6871A>G p.M2291V Missense 50/56 - 3
15-63111816-G-A c.6873G>A p.M2291I Missense 50/56 - 1
15-63111816-G-C c.6873G>C p.M2291I Missense 50/56 - 2
15-63111816-G-T c.6873G>T p.M2291I Missense 50/56 - 1
15-63111820-G-T c.6877G>T p.G2293* Nonsense 50/56 - 1
15-63111838-G-A c.6877+18G>A - IntronicSNV - 50/55 1
15-63112685-G-A c.6878G>A p.G2293E Missense 51/56 - 1
15-63112688-C-T c.6881C>T p.T2294I Missense 51/56 - 3
15-63112696-G-A c.6889G>A p.V2297M Missense 51/56 - 2
15-63112711-C-T c.6904C>T p.P2302S Missense 51/56 - 1
15-63112714-A-G c.6907A>G p.T2303A Missense 51/56 - 4
15-63112721-T-C c.6914T>C p.I2305T Missense 51/56 - 1
15-63112730-C-A c.6923C>A p.T2308K Missense 51/56 - 1
15-63112730-C-CA c.6924dup p.E2309Rfs*14 Frameshift 51/56 - 1
15-63112737-A-G c.6930A>G p.L2310= Synonymous 51/56 - 1
15-63112737-A-T c.6930A>T p.L2310F Missense 51/56 - 1
15-63112738-C-T c.6931C>T p.L2311= Synonymous 51/56 - 2
15-63112740-G-A c.6933G>A p.L2311= Synonymous 51/56 - 1
15-63112740-G-C c.6933G>C p.L2311= Synonymous 51/56 - 1
15-63112740-G-T c.6933G>T p.L2311= Synonymous 51/56 - 2
15-63112743-G-A c.6936G>A p.G2312= Synonymous 51/56 - 3
15-63112743-G-C c.6936G>C p.G2312= Synonymous 51/56 - 1
15-63112743-G-T c.6936G>T p.G2312= Synonymous 51/56 - 1
15-63112747-G-A c.6940G>A p.A2314T Missense 51/56 - 1
15-63112752-A-G c.6945A>G p.A2315= Synonymous 51/56 - 1
15-63112755-C-T c.6948C>T p.S2316= Synonymous 51/56 - 1
15-63112756-A-C c.6949A>C p.I2317L Missense 51/56 - 1
15-63112758-C-A c.6951C>A p.I2317= Synonymous 51/56 - 1
15-63112758-C-T c.6951C>T p.I2317= Synonymous 51/56 - 2
15-63112759-G-A c.6952G>A p.E2318K Missense 51/56 - 2
15-63112765-G-A c.6958G>A p.A2320T Missense 51/56 - 1
15-63112774-A-T c.6967A>T p.K2323* Nonsense 51/56 - 1
15-63112780-G-C c.6973G>C p.E2325Q Missense 51/56 - 1
15-63112793-C-G c.6986C>G p.P2329R Missense 51/56 - 1
15-63112793-C-T c.6986C>T p.P2329L Missense 51/56 - 2
15-63112795-AG-CA c.6988_6989delinsCA p.R2330Q Missense 51/56 - 1
15-63112799-C-T c.6992C>T p.A2331V Missense 51/56 - 1
15-63112805-C-A c.6998C>A p.P2333Q Missense 51/56 - 1
15-63112807-A-G c.7000A>G p.K2334E Missense 51/56 - 3
15-63112809-A-T c.7002A>T p.K2334N Missense 51/56 - 1
15-63112976-TA-T c.7002+174del - IntronicDeletion - 51/55 1
15-63117328-C-G c.7002+4519C>G - IntronicSNV - 51/55 1
15-63118562-C-T c.7002+5753C>T - IntronicSNV - 51/55 1
15-63125709-G-A c.7009G>A p.D2337N Missense 52/56 - 3
15-63125718-C-A c.7018C>A p.L2340M Missense 52/56 - 3
15-63125718-C-G c.7018C>G p.L2340V Missense 52/56 - 2
15-63125719-T-C c.7019T>C p.L2340P Missense 52/56 - 2
15-63125720-G-A c.7020G>A p.L2340= Synonymous 52/56 - 1
15-63125721-G-A c.7021G>A p.D2341N Missense 52/56 - 4
15-63125722-A-C c.7022A>C p.D2341A Missense 52/56 - 1
15-63125722-A-G c.7022A>G p.D2341G Missense 52/56 - 1
15-63125727-G-C c.7027G>C p.E2343Q Missense 52/56 - 2
15-63125735-G-C c.7035G>C p.Q2345H Missense 52/56 - 1
15-63125738-C-A c.7038C>A p.I2346= Synonymous 52/56 - 2
15-63125738-C-T c.7038C>T p.I2346= Synonymous 52/56 - 1
15-63125756-C-T c.7056C>T p.S2352= Synonymous 52/56 - 1
15-63125757-AT-A c.7059del p.I2353Mfs*42 Frameshift 52/56 - 1
15-63125770-C-T c.7070C>T p.T2357I Missense 52/56 - 1
15-63125773-G-T c.7073G>T p.S2358I Missense 52/56 - 1
15-63125774-C-T c.7074C>T p.S2358= Synonymous 52/56 - 1
15-63125775-G-A c.7075G>A p.A2359T Missense 52/56 - 4
15-63125776-C-CT c.7076_7077insT p.L2360Pfs*51 Frameshift 52/56 - 1
15-63125777-C-T c.7077C>T p.A2359= Synonymous 52/56 - 1
15-63125780-G-A c.7080G>A p.L2360= Synonymous 52/56 - 3
15-63125788-C-A c.7088C>A p.S2363* Nonsense 52/56 - 1
15-63125789-G-A c.7089G>A p.S2363= Synonymous 52/56 - 1
15-63125800-C-T c.7100C>T p.A2367V Missense 52/56 - 1
15-63125804-G-A c.7104G>A p.Q2368= Synonymous 52/56 - 2
15-63125804-G-C c.7104G>C p.Q2368H Missense 52/56 - 1
15-63125804-G-T c.7104G>T p.Q2368H Missense 52/56 - 1
15-63125806-G-A c.7106G>A p.R2369K Missense 52/56 - 1
15-63125807-G-A c.7107G>A p.R2369= Synonymous 52/56 - 1
15-63125808-G-A c.7108G>A p.E2370K Missense 52/56 - 1
15-63125822-A-G c.7122A>G p.Q2374= Synonymous 52/56 - 2
15-63125933-A-G c.7128+105A>G - IntronicSNV - 52/55 1
15-63125960-C-G c.7128+132C>G - IntronicSNV - 52/55 1
15-63125991-T-G c.7128+163T>G - IntronicSNV - 52/55 1
15-63126034-T-C c.7128+206T>C - IntronicSNV - 52/55 1
15-63126057-C-A c.7128+229C>A - IntronicSNV - 52/55 1
15-63127943-C-T c.7136C>T p.S2379F Missense 53/56 - 1
15-63127944-C-T c.7137C>T p.S2379= Synonymous 53/56 - 3
15-63127945-A-G c.7138A>G p.I2380V Missense 53/56 - 1
15-63127947-C-T c.7140C>T p.I2380= Synonymous 53/56 - 3
15-63127948-C-A c.7141C>A p.P2381T Missense 53/56 - 1
15-63127948-C-G c.7141C>G p.P2381A Missense 53/56 - 1
15-63127949-C-A c.7142C>A p.P2381H Missense 53/56 - 1
15-63127954-A-G c.7147A>G p.N2383D Missense 53/56 - 1
15-63127955-A-G c.7148A>G p.N2383S Missense 53/56 - 1
15-63127959-T-A c.7152T>A p.A2384= Synonymous 53/56 - 1
15-63127959-T-C c.7152T>C p.A2384= Synonymous 53/56 - 2
15-63127959-T-G c.7152T>G p.A2384= Synonymous 53/56 - 1
15-63127961-C-A c.7154C>A p.A2385E Missense 53/56 - 2
15-63127965-C-T c.7158C>T p.D2386= Synonymous 53/56 - 4
15-63127966-G-A c.7159G>A p.D2387N Missense 53/56 - 1
15-63127967-A-G c.7160A>G p.D2387G Missense 53/56 - 1
15-63127968-C-T c.7161C>T p.D2387= Synonymous 53/56 - 3
15-63127969-G-A c.7162G>A p.G2388R Missense 53/56 - 1
15-63127969-G-C c.7162G>C p.G2388R Missense 53/56 - 1
15-63127971-A-C c.7164A>C p.G2388= Synonymous 53/56 - 1
15-63127971-A-G c.7164A>G p.G2388= Synonymous 53/56 - 1
15-63127971-A-T c.7164A>T p.G2388= Synonymous 53/56 - 1
15-63127973-A-T c.7166A>T p.Q2389L Missense 53/56 - 2
15-63127983-G-A c.7176G>A p.Q2392= Synonymous 53/56 - 7
15-63127997-C-T c.7190C>T p.A2397V Missense 53/56 - 1
15-63127999-G-C c.7191+1G>C - IntronicSNV - 53/55 1
15-63128001-G-A c.7191+3G>A - IntronicSNV - 53/55 1
15-63128005-T-A c.7191+7T>A - IntronicSNV - 53/55 1
15-63128038-T-C c.7191+40T>C - IntronicSNV - 53/55 1
15-63128096-A-G c.7198A>G p.M2400V Missense 54/56 - 1
15-63128103-C-G c.7205C>G p.A2402G Missense 54/56 - 3
15-63128104-G-A c.7206G>A p.A2402= Synonymous 54/56 - 1
15-63128104-G-C c.7206G>C p.A2402= Synonymous 54/56 - 1
15-63128104-G-T c.7206G>T p.A2402= Synonymous 54/56 - 1
15-63128109-C-T c.7211C>T p.A2404V Missense 54/56 - 1
15-63128127-A-T c.7229A>T p.E2410V Missense 54/56 - 1
15-63128130-C-T c.7232C>T p.A2411V Missense 54/56 - 1
15-63128131-G-A c.7233G>A p.A2411= Synonymous 54/56 - 1
15-63128131-G-T c.7233G>T p.A2411= Synonymous 54/56 - 1
15-63128133-C-T c.7235C>T p.A2412V Missense 54/56 - 1
15-63128142-C-T c.7244C>T p.S2415F Missense 54/56 - 2
15-63128143-C-A c.7245C>A p.S2415= Synonymous 54/56 - 1
15-63128143-C-G c.7245C>G p.S2415= Synonymous 54/56 - 1
15-63128143-C-T c.7245C>T p.S2415= Synonymous 54/56 - 2
15-63128147-C-G c.7249C>G p.Q2417E Missense 54/56 - 3
15-63128155-C-T c.7257C>T p.H2419= Synonymous 54/56 - 3
15-63128162-G-A c.7264G>A p.E2422K Missense 54/56 - 1
15-63128164-G-A c.7266G>A p.E2422= Synonymous 54/56 - 1
15-63128171-C-T c.7273C>T p.L2425F Missense 54/56 - 1
15-63128176-C-G c.7278C>G p.I2426M Missense 54/56 - 1
15-63128178-C-T c.7280C>T p.S2427L Missense 54/56 - 3
15-63128194-C-T c.7296C>T p.V2432= Synonymous 54/56 - 3
15-63128199-C-A c.7301C>A p.A2434D Missense 54/56 - 1
15-63128203-C-A c.7305C>A p.S2435= Synonymous 54/56 - 2
15-63128203-C-G c.7305C>G p.S2435= Synonymous 54/56 - 3
15-63128203-C-T c.7305C>T p.S2435= Synonymous 54/56 - 2
15-63128210-C-A c.7312C>A p.Q2438K Missense 54/56 - 2
15-63128212-G-C c.7314G>C p.Q2438H Missense 54/56 - 1
15-63128212-G-T c.7314G>T p.Q2438H Missense 54/56 - 1
15-63128227-C-T c.7329C>T p.C2443= Synonymous 54/56 - 1
15-63128231-G-C c.7333G>C p.V2445L Missense 54/56 - 4
15-63128231-G-T c.7333G>T p.V2445L Missense 54/56 - 11
15-63128240-G-A c.7342G>A p.D2448N Missense 54/56 - 1
15-63128253-A-G c.7355A>G p.E2452G Missense 54/56 - 1
15-63128257-C-A c.7359C>A p.A2453= Synonymous 54/56 - 1
15-63128257-C-G c.7359C>G p.A2453= Synonymous 54/56 - 1
15-63128257-C-T c.7359C>T p.A2453= Synonymous 54/56 - 1
15-63128260-G-A c.7362G>A p.M2454I Missense 54/56 - 5
15-63128260-G-C c.7362G>C p.M2454I Missense 54/56 - 5
15-63128260-G-T c.7362G>T p.M2454I Missense 54/56 - 7
15-63128262-G-A c.7364G>A p.R2455K Missense 54/56 - 2
15-63128265-G-A c.7367G>A p.R2456Q Missense 54/56 - 1
15-63131056-C-T c.7376C>T p.A2459V Missense 55/56 - 2
15-63131057-G-A c.7377G>A p.A2459= Synonymous 55/56 - 2
15-63131057-G-C c.7377G>C p.A2459= Synonymous 55/56 - 1
15-63131057-G-T c.7377G>T p.A2459= Synonymous 55/56 - 1
15-63131062-G-A c.7382G>A p.G2461E Missense 55/56 - 5
15-63131077-G-C c.7397G>C p.R2466T Missense 55/56 - 1
15-63131089-A-G c.7409A>G p.N2470S Missense 55/56 - 1
15-63131091-C-T c.7411C>T p.L2471F Missense 55/56 - 8
15-63131096-C-A c.7416C>A p.V2472= Synonymous 55/56 - 2
15-63131096-C-G c.7416C>G p.V2472= Synonymous 55/56 - 2
15-63131096-C-T c.7416C>T p.V2472= Synonymous 55/56 - 2
15-63131097-C-T c.7417C>T p.R2473C Missense 55/56 - 2
15-63131098-G-A c.7418G>A p.R2473H Missense 55/56 - 4
15-63131098-G-T c.7418G>T p.R2473L Missense 55/56 - 1
15-63131113-C-T c.7433C>T p.A2478V Missense 55/56 - 2
15-63131117-T-A c.7437T>A p.A2479= Synonymous 55/56 - 12
15-63131117-T-C c.7437T>C p.A2479= Synonymous 55/56 - 1
15-63131117-T-G c.7437T>G p.A2479= Synonymous 55/56 - 10
15-63131130-G-A c.7450G>A p.D2484N Missense 55/56 - 1
15-63131133-G-A c.7453G>A p.D2485N Missense 55/56 - 1
15-63131135-C-T c.7455C>T p.D2485= Synonymous 55/56 - 1
15-63131136-G-A c.7456G>A p.D2486N Missense 55/56 - 1
15-63131138-C-CT c.7458_7459insT p.D2487* Nonsense 55/56 - 1
15-63131139-G-A c.7459G>A p.D2487N Missense 55/56 - 1
15-63131150-G-T c.7470G>T p.V2490= Synonymous 55/56 - 1
15-63131161-T-G c.7481T>G p.F2494C Missense 55/56 - 1
15-63131163-G-C c.7483G>C p.V2495L Missense 55/56 - 1
15-63131163-G-T c.7483G>T p.V2495L Missense 55/56 - 2
15-63131165-G-A c.7485G>A p.V2495= Synonymous 55/56 - 1
15-63131165-G-C c.7485G>C p.V2495= Synonymous 55/56 - 1
15-63131165-G-T c.7485G>T p.V2495= Synonymous 55/56 - 1
15-63131166-G-T c.7486G>T p.G2496W Missense 55/56 - 1
15-63131164-T-TG c.7490dup p.I2498Hfs*34 Frameshift 55/56 - 1
15-63131719-C-T c.7500+539C>T - IntronicSNV - 55/55 1
15-63132687-G-A c.7507G>A p.A2503T Missense 56/56 - 2
15-63132687-G-T c.7507G>T p.A2503S Missense 56/56 - 1
15-63132689-C-A c.7509C>A p.A2503= Synonymous 56/56 - 1
15-63132689-C-G c.7509C>G p.A2503= Synonymous 56/56 - 1
15-63132689-C-T c.7509C>T p.A2503= Synonymous 56/56 - 1
15-63132690-G-A c.7510G>A p.A2504T Missense 56/56 - 1
15-63132690-G-C c.7510G>C p.A2504P Missense 56/56 - 1
15-63132696-G-A c.7516G>A p.E2506K Missense 56/56 - 2
15-63132696-G-T c.7516G>T p.E2506* Nonsense 56/56 - 1
15-63132699-G-T c.7519G>T p.E2507* Nonsense 56/56 - 1
15-63132704-G-A c.7524G>A p.M2508I Missense 56/56 - 1
15-63132704-G-C c.7524G>C p.M2508I Missense 56/56 - 1
15-63132704-G-T c.7524G>T p.M2508I Missense 56/56 - 1
15-63132706-T-C c.7526T>C p.L2509P Missense 56/56 - 1
15-63132715-A-T c.7535A>T p.E2512V Missense 56/56 - 2
15-63132716-G-A c.7536G>A p.E2512= Synonymous 56/56 - 1
15-63132717-C-T c.7537C>T p.R2513* Nonsense 56/56 - 1
15-63132723-C-A c.7543C>A p.L2515M Missense 56/56 - 3
15-63132729-G-T c.7549G>T p.E2517* Nonsense 56/56 - 1
15-63132732-G-A c.7552G>A p.A2518T Missense 56/56 - 1
15-63132740-A-AT c.7560_7561insT p.K2521* Nonsense 56/56 - 1
15-63132747-G-A c.7567G>A p.A2523T Missense 56/56 - 1
15-63132749-C-T c.7569C>T p.A2523= Synonymous 56/56 - 1
15-63132752-A-G c.7572A>G p.Q2524= Synonymous 56/56 - 1
15-63132761-G-T c.7581G>T p.Q2527H Missense 56/56 - 1
15-63132762-C-T c.7582C>T p.Q2528* Nonsense 56/56 - 1
15-63132781-C-A c.7601C>A p.P2534H Missense 56/56 - 1
15-63132786-G-A c.7606G>A p.E2536K Missense 56/56 - 5
15-63132791-G-A c.7611G>A p.L2537= Synonymous 56/56 - 1
15-63132793-G-A c.7613G>A p.R2538K Missense 56/56 - 1
15-63132803-G-A c.7623G>A p.E2541= Synonymous 56/56 - 1