KMT2D

KMT2D lysine methyltransferase 2D

Annotation transcript: NM_003482.4

13568 unique variant annotations were identified in 2124 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
12-49412918-A-G c.*2645T>C - 3-UTRSNV 55/55 - 1
12-49412921-G-A c.*2642C>T - 3-UTRSNV 55/55 - 2
12-49413199-A-T c.*2364T>A - 3-UTRSNV 55/55 - 1
12-49413486-C-T c.*2077G>A - 3-UTRSNV 55/55 - 4
12-49415535-C-T c.*28G>A - 3-UTRSNV 55/55 - 1
12-49415569-C-A c.16608G>T p.M5536I Missense 55/55 - 2
12-49415569-C-G c.16608G>C p.M5536I Missense 55/55 - 2
12-49415569-C-T c.16608G>A p.M5536I Missense 55/55 - 2
12-49415570-A-G c.16607T>C p.M5536T Missense 55/55 - 4
12-49415572-C-T c.16605G>A p.W5535* Nonsense 55/55 - 1
12-49415578-C-T c.16599G>A p.R5533= Synonymous 55/55 - 3
12-49415579-C-T c.16598G>A p.R5533Q Missense 55/55 - 2
12-49415578-C-A c.16599G>T p.R5533= Synonymous 55/55 - 1
12-49415578-C-G c.16599G>C p.R5533= Synonymous 55/55 - 1
12-49415580-G-A c.16597C>T p.R5533W Missense 55/55 - 5
12-49415580-G-T c.16597C>A p.R5533= Synonymous 55/55 - 1
12-49415583-AATTCCAGGCTCC-A c.16582_16593del p.G5528_N5531del InFrameDeletion 55/55 - 1
12-49415584-AT-A c.16592del p.N5531Ifs*6 Frameshift 55/55 - 1
12-49415587-C-A c.16590G>T p.W5530C Missense 55/55 - 2
12-49415587-C-G c.16590G>C p.W5530C Missense 55/55 - 1
12-49415587-C-T c.16590G>A p.W5530* Nonsense 55/55 - 2
12-49415591-G-A c.16586C>T p.A5529V Missense 55/55 - 2
12-49415594-C-A c.16583G>T p.G5528V Missense 55/55 - 1
12-49415595-C-G c.16582G>C p.G5528R Missense 55/55 - 1
12-49415595-C-T c.16582G>A p.G5528R Missense 55/55 - 1
12-49415596-A-T c.16581T>A p.C5527* Nonsense 55/55 - 1
12-49415598-A-G c.16579T>C p.C5527R Missense 55/55 - 1
12-49415602-G-A c.16575C>T p.C5525= Synonymous 55/55 - 1
12-49415602-G-C c.16575C>G p.C5525W Missense 55/55 - 1
12-49415606-G-A c.16571C>T p.P5524L Missense 55/55 - 2
12-49415606-G-T c.16571C>A p.P5524H Missense 55/55 - 2
12-49415604-AG-A c.16572del p.C5525Afs*12 Frameshift 55/55 - 1
12-49415608-G-A c.16569C>T p.I5523= Synonymous 55/55 - 1
12-49415608-G-T c.16569C>A p.I5523= Synonymous 55/55 - 1
12-49415609-A-G c.16568T>C p.I5523T Missense 55/55 - 1
12-49415611-C-T c.16566G>A p.K5522= Synonymous 55/55 - 1
12-49415614-G-C c.16563C>G p.H5521Q Missense 55/55 - 3
12-49415614-G-T c.16563C>A p.H5521Q Missense 55/55 - 2
12-49415615-TG-GC c.16561_16562delinsGC p.H5521A Missense 55/55 - 1
12-49415617-C-A c.16560G>T p.Q5520H Missense 55/55 - 1
12-49415621-TC-GG c.16555_16556delinsCC p.D5519P Missense 55/55 - 1
12-49415621-T-G c.16556A>C p.D5519A Missense 55/55 - 1
12-49415622-C-T c.16555G>A p.D5519N Missense 55/55 - 3
12-49415623-G-A c.16554C>T p.D5518= Synonymous 55/55 - 1
12-49415624-T-C c.16553A>G p.D5518G Missense 55/55 - 4
12-49415625-C-T c.16552G>A p.D5518N Missense 55/55 - 1
12-49415628-C-G c.16549G>C p.E5517Q Missense 55/55 - 5
12-49415633-T-C c.16544A>G p.D5515G Missense 55/55 - 5
12-49415633-TC-GG c.16543_16544delinsCC p.D5515P Missense 55/55 - 1
12-49415634-C-G c.16543G>C p.D5515H Missense 55/55 - 1
12-49415636-A-C c.16541T>G p.F5514C Missense 55/55 - 1
12-49415640-G-A c.16537C>T p.Q5513* Nonsense 55/55 - 1
12-49415640-G-C c.16537C>G p.Q5513E Missense 55/55 - 1
12-49415642-T-C c.16535A>G p.Y5512C Missense 55/55 - 1
12-49415644-G-A c.16533C>T p.D5511= Synonymous 55/55 - 1
12-49415645-T-G c.16532A>C p.D5511A Missense 55/55 - 4
12-49415647-A-C c.16530T>G p.Y5510* Nonsense 55/55 - 1
12-49415647-A-T c.16530T>A p.Y5510* Nonsense 55/55 - 1
12-49415648-T-C c.16529A>G p.Y5510C Missense 55/55 - 5
12-49415649-A-C c.16528T>G p.Y5510D Missense 55/55 - 4
12-49415650-G-A c.16527C>T p.T5509= Synonymous 55/55 - 1
12-49415650-G-C c.16527C>G p.T5509= Synonymous 55/55 - 1
12-49415650-G-T c.16527C>A p.T5509= Synonymous 55/55 - 1
12-49415651-G-A c.16526C>T p.T5509I Missense 55/55 - 1
12-49415652-T-G c.16525A>C p.T5509P Missense 55/55 - 1
12-49415654-A-T c.16523T>A p.L5508Q Missense 55/55 - 1
12-49415659-A-C c.16522-4T>G - IntronicSNV - 54/54 1
12-49415821-TCTC-T c.16521+3_16521+5del - IntronicDeletion - 54/54 1
12-49415825-C-A c.16521+1G>T - IntronicSNV - 54/54 3
12-49415825-C-T c.16521+1G>A - IntronicSNV - 54/54 1
12-49415826-C-A c.16521G>T p.E5507D Missense 54/55 - 3
12-49415826-C-G c.16521G>C p.E5507D Missense 54/55 - 4
12-49415825-CCT-C c.16520_16521del p.E5507Afs*4 SpliceDonorDeletion 54/55 - 1
12-49415828-C-T c.16519G>A p.E5507K Missense 54/55 - 1
12-49415824-ACCT-A c.16520_16521+1del - SpliceDonorDeletion 54/55 - 1
12-49415833-C-A c.16514G>T p.G5505V Missense 54/55 - 1
12-49415834-C-G c.16513G>C p.G5505R Missense 54/55 - 1
12-49415834-C-T c.16513G>A p.G5505R Missense 54/55 - 1
12-49415836-T-C c.16511A>G p.K5504R Missense 54/55 - 1
12-49415836-T-G c.16511A>C p.K5504T Missense 54/55 - 1
12-49415838-G-A c.16509C>T p.P5503= Synonymous 54/55 - 1
12-49415838-G-C c.16509C>G p.P5503= Synonymous 54/55 - 1
12-49415838-G-T c.16509C>A p.P5503= Synonymous 54/55 - 1
12-49415840-G-A c.16507C>T p.P5503S Missense 54/55 - 1
12-49415841-G-A c.16506C>T p.I5502= Synonymous 54/55 - 1
12-49415842-A-C c.16505T>G p.I5502S Missense 54/55 - 1
12-49415842-A-T c.16505T>A p.I5502N Missense 54/55 - 1
12-49415843-T-A c.16504A>T p.I5502F Missense 54/55 - 1
12-49415845-C-G c.16502G>C p.R5501P Missense 54/55 - 1
12-49415845-C-T c.16502G>A p.R5501Q Missense 54/55 - 5
12-49415846-G-A c.16501C>T p.R5501* Nonsense 54/55 - 21
12-49415848-C-A c.16499G>T p.R5500L Missense 54/55 - 1
12-49415848-C-T c.16499G>A p.R5500Q Missense 54/55 - 4
12-49415849-G-A c.16498C>T p.R5500W Missense 54/55 - 4
12-49415854-G-A c.16493C>T p.S5498F Missense 54/55 - 2
12-49415854-G-C c.16493C>G p.S5498C Missense 54/55 - 3
12-49415854-GGAGATGATGATGATTTTGT-G c.16475_16493del p.D5492Afs*11 Frameshift 54/55 - 1
12-49415854-G-T c.16493C>A p.S5498Y Missense 54/55 - 1
12-49415860-A-C c.16487T>G p.I5496S Missense 54/55 - 1
12-49415855-AGAT-A c.16489_16491del p.I5497del InFrameDeletion 54/55 - 12
12-49415865-G-A c.16482C>T p.I5494= Synonymous 54/55 - 1
12-49415868-T-A c.16479A>T p.K5493N Missense 54/55 - 2
12-49415868-T-G c.16479A>C p.K5493N Missense 54/55 - 3
12-49415870-T-C c.16477A>G p.K5493E Missense 54/55 - 1
12-49415872-T-A c.16475A>T p.D5492V Missense 54/55 - 1
12-49415873-C-T c.16474G>A p.D5492N Missense 54/55 - 1
12-49415872-TC-T c.16474del p.D5492Tfs*17 Frameshift 54/55 - 1
12-49415874-C-A c.16473G>T p.E5491D Missense 54/55 - 2
12-49415874-CCTCTTTGTCAA-C c.16463_16473del p.F5488* Frameshift 54/55 - 1
12-49415874-C-G c.16473G>C p.E5491D Missense 54/55 - 1
12-49415876-C-G c.16471G>C p.E5491Q Missense 54/55 - 2
12-49415876-CTT-C c.16469_16470del p.K5490Rfs*21 Frameshift 54/55 - 4
12-49415876-CT-C c.16470del p.E5491Rfs*18 Frameshift 54/55 - 1
12-49415879-T-TA c.16467_16468insT p.K5490* Nonsense 54/55 - 1
12-49415882-C-A c.16465G>T p.D5489Y Missense 54/55 - 1
12-49415884-A-G c.16463T>C p.F5488S Missense 54/55 - 5
12-49415887-G-T c.16460C>A p.T5487K Missense 54/55 - 6
12-49415888-T-C c.16459A>G p.T5487A Missense 54/55 - 2
12-49415891-C-G c.16456G>C p.V5486L Missense 54/55 - 1
12-49415891-C-T c.16456G>A p.V5486M Missense 54/55 - 2
12-49415892-G-A c.16455C>T p.V5485= Synonymous 54/55 - 1
12-49415892-G-C c.16455C>G p.V5485= Synonymous 54/55 - 1
12-49415892-G-T c.16455C>A p.V5485= Synonymous 54/55 - 1
12-49415895-CTT-C c.16451_16452del p.E5484Gfs*5 Frameshift 54/55 - 1
12-49415895-CTTCGGCCA-C c.16445_16452del p.V5482Gfs*5 Frameshift 54/55 - 1
12-49415897-C-T c.16450G>A p.E5484K Missense 54/55 - 3
12-49415897-TC-T c.16450del p.E5484Kfs*3 Frameshift 54/55 - 1
12-49415898-G-A c.16449C>T p.A5483= Synonymous 54/55 - 2
12-49415898-G-C c.16449C>G p.A5483= Synonymous 54/55 - 1
12-49415898-G-T c.16449C>A p.A5483= Synonymous 54/55 - 1
12-49415900-C-A c.16447G>T p.A5483S Missense 54/55 - 2
12-49415900-C-T c.16447G>A p.A5483T Missense 54/55 - 4
12-49415904-A-C c.16443T>G p.C5481W Missense 54/55 - 1
12-49415904-CACAG-C c.16440_16443del p.N5480Kfs*6 Frameshift 54/55 - 1
12-49415900-CCA-C c.16445_16446del p.V5482Gfs*7 Frameshift 54/55 - 1
12-49415905-AC-A c.16442del p.C5481Lfs*6 Frameshift 54/55 - 1
12-49415905-C-A c.16442G>T p.C5481F Missense 54/55 - 3
12-49415905-C-T c.16442G>A p.C5481Y Missense 54/55 - 1
12-49415905-CAGTT-C c.16438_16441del p.N5480Vfs*6 Frameshift 54/55 - 2
12-49415908-T-A c.16439A>T p.N5480I Missense 54/55 - 1
12-49415908-T-C c.16439A>G p.N5480S Missense 54/55 - 1
12-49415908-T-G c.16439A>C p.N5480T Missense 54/55 - 1
12-49415910-TA-T c.16437del p.N5480Tfs*7 Frameshift 54/55 - 1
12-49415911-G-A c.16436C>T p.P5479L Missense 54/55 - 2
12-49415917-C-T c.16430G>A p.C5477Y Missense 54/55 - 2
12-49415918-A-C c.16429T>G p.C5477G Missense 54/55 - 3
12-49415920-G-T c.16427C>A p.S5476Y Missense 54/55 - 3
12-49415922-A-C c.16425T>G p.H5475Q Missense 54/55 - 1
12-49415922-A-T c.16425T>A p.H5475Q Missense 54/55 - 2
12-49415925-GTT-TTA c.16420_16422delinsTAA p.N5474* Nonsense 54/55 - 2
12-49415930-T-C c.16417A>G p.I5473V Missense 54/55 - 2
12-49415932-T-C c.16415A>G p.Y5472C Missense 54/55 - 1
12-49415933-A-C c.16414T>G p.Y5472D Missense 54/55 - 1
12-49415934-C-A c.16413G>T p.R5471S Missense 54/55 - 3
12-49416005-TC-T c.16412+57del - IntronicDeletion - 53/54 1
12-49416033-C-A c.16412+30G>T - IntronicSNV - 53/54 1
12-49416046-TC-T c.16412+16del - IntronicDeletion - 53/54 1
12-49416050-C-T c.16412+13G>A - IntronicSNV - 53/54 1
12-49416058-C-T c.16412+5G>A - IntronicSNV - 53/54 1
12-49416060-C-G c.16412+3G>C - IntronicSNV - 53/54 1
12-49416061-A-G c.16412+2T>C - IntronicSNV - 53/54 1
12-49416062-C-A c.16412+1G>T - IntronicSNV - 53/54 3
12-49416062-C-G c.16412+1G>C - IntronicSNV - 53/54 3
12-49416062-C-T c.16412+1G>A - IntronicSNV - 53/54 2
12-49416063-C-A c.16412G>T p.R5471M Missense 53/55 - 4
12-49416063-C-G c.16412G>C p.R5471T Missense 53/55 - 1
12-49416063-C-T c.16412G>A p.R5471K Missense 53/55 - 3
12-49416064-T-A c.16411A>T p.R5471W Missense 53/55 - 2
12-49416070-G-A c.16405C>T p.P5469S Missense 53/55 - 4
12-49416070-G-C c.16405C>G p.P5469A Missense 53/55 - 1
12-49416071-G-A c.16404C>T p.G5468= Synonymous 53/55 - 1
12-49416071-G-C c.16404C>G p.G5468= Synonymous 53/55 - 1
12-49416071-G-T c.16404C>A p.G5468= Synonymous 53/55 - 1
12-49416072-C-T c.16403G>A p.G5468D Missense 53/55 - 1
12-49416073-C-A c.16402G>T p.G5468C Missense 53/55 - 1
12-49416075-C-G c.16400G>C p.G5467A Missense 53/55 - 1
12-49416075-C-T c.16400G>A p.G5467D Missense 53/55 - 1
12-49416076-C-T c.16399G>A p.G5467S Missense 53/55 - 1
12-49416077-G-A c.16398C>T p.T5466= Synonymous 53/55 - 2
12-49416077-G-C c.16398C>G p.T5466= Synonymous 53/55 - 2
12-49416077-G-T c.16398C>A p.T5466= Synonymous 53/55 - 2
12-49416081-A-G c.16394T>C p.L5465S Missense 53/55 - 1
12-49416080-C-T c.16395G>A p.L5465= Synonymous 53/55 - 1
12-49416082-A-G c.16393T>C p.L5465= Synonymous 53/55 - 1
12-49416083-C-CCT c.16391_16392insAG p.L5465Gfs*2 Frameshift 53/55 - 1
12-49416084-CG-C c.16391del p.T5464Sfs*2 Frameshift 53/55 - 1
12-49416084-G-A c.16391C>T p.T5464M Missense 53/55 - 6
12-49416085-T-C c.16390A>G p.T5464A Missense 53/55 - 1
12-49416085-T-G c.16390A>C p.T5464P Missense 53/55 - 5
12-49416090-T-C c.16385A>G p.D5462G Missense 53/55 - 2
12-49416091-C-G c.16384G>C p.D5462H Missense 53/55 - 9
12-49416093-A-G c.16382T>C p.I5461T Missense 53/55 - 1
12-49416094-T-C c.16381A>G p.I5461V Missense 53/55 - 1
12-49416095-TCACA-T c.16377_16380del p.H5459Qfs*6 Frameshift 53/55 - 1
12-49416098-CAT-C c.16376_16377del p.H5459Rfs*3 Frameshift 53/55 - 1
12-49416099-T-TTTTATTG c.16375_16376insCAATAAA p.H5459Pfs*6 Frameshift 53/55 - 1
12-49416100-G-T c.16375C>A p.H5459N Missense 53/55 - 1
12-49416102-T-C c.16373A>G p.E5458G Missense 53/55 - 1
12-49416103-C-A c.16372G>T p.E5458* Nonsense 53/55 - 3
12-49416103-C-CCGAATAAACAATGAACATGTG c.16371_16372insCACATGTTCATTGTTTATTCG p.N5457_E5458insHMFIVYS InFrameInsertion 53/55 - 1
12-49416105-T-C c.16370A>G p.N5457S Missense 53/55 - 1
12-49416103-CATTGTTT-C c.16365_16371del p.I5455Mfs*4 Frameshift 53/55 - 1
12-49416114-C-A c.16361G>T p.R5454L Missense 53/55 - 2
12-49416114-C-T c.16361G>A p.R5454Q Missense 53/55 - 7
12-49416115-G-A c.16360C>T p.R5454* Nonsense 53/55 - 16
12-49416123-T-C c.16352A>G p.Y5451C Missense 53/55 - 3
12-49416125-G-C c.16350C>G p.I5450M Missense 53/55 - 1
12-49416126-A-C c.16349T>G p.I5450S Missense 53/55 - 1
12-49416129-C-T c.16346G>A p.G5449D Missense 53/55 - 1
12-49416130-C-T c.16345G>A p.G5449S Missense 53/55 - 1
12-49416132-C-G c.16343G>C p.R5448P Missense 53/55 - 4
12-49416132-C-T c.16343G>A p.R5448Q Missense 53/55 - 3
12-49416133-G-A c.16342C>T p.R5448* Nonsense 53/55 - 15
12-49416134-A-C c.16341T>G p.N5447K Missense 53/55 - 5
12-49416134-A-T c.16341T>A p.N5447K Missense 53/55 - 4
12-49416371-A-G c.16338+2T>C - IntronicSNV - 52/54 1
12-49416372-C-A c.16338+1G>T - IntronicSNV - 52/54 2
12-49416372-C-T c.16338+1G>A - IntronicSNV - 52/54 2
12-49416373-C-A c.16338G>T p.Q5446H Missense 52/55 - 2
12-49416373-C-G c.16338G>C p.Q5446H Missense 52/55 - 2
12-49416374-T-TG c.16336dup p.Q5446Pfs*13 Frameshift 52/55 - 1
12-49416375-G-A c.16336C>T p.Q5446* Nonsense 52/55 - 1
12-49416377-T-A c.16334A>T p.E5445V Missense 52/55 - 1
12-49416378-C-T c.16333G>A p.E5445K Missense 52/55 - 2
12-49416381-C-A c.16330G>T p.E5444* Nonsense 52/55 - 2
12-49416381-C-T c.16330G>A p.E5444K Missense 52/55 - 5
12-49416382-G-A c.16329C>T p.Y5443= Synonymous 52/55 - 1
12-49416382-G-T c.16329C>A p.Y5443* Nonsense 52/55 - 1
12-49416390-T-A c.16321A>T p.K5441* Nonsense 52/55 - 1
12-49416390-T-C c.16321A>G p.K5441E Missense 52/55 - 1
12-49416391-C-G c.16320G>C p.E5440D Missense 52/55 - 1
12-49416393-C-A c.16318G>T p.E5440* Nonsense 52/55 - 2
12-49416393-C-T c.16318G>A p.E5440K Missense 52/55 - 1
12-49416392-TC-T c.16318del p.E5440Rfs*16 Frameshift 52/55 - 2
12-49416395-C-G c.16316G>C p.R5439P Missense 52/55 - 1
12-49416395-C-T c.16316G>A p.R5439Q Missense 52/55 - 1
12-49416396-G-A c.16315C>T p.R5439W Missense 52/55 - 1
12-49416396-G-C c.16315C>G p.R5439G Missense 52/55 - 2
12-49416398-C-T c.16313G>A p.R5438Q Missense 52/55 - 3
12-49416399-G-A c.16312C>T p.R5438W Missense 52/55 - 5
12-49416401-T-C c.16310A>G p.N5437S Missense 52/55 - 1
12-49416404-G-A c.16307C>T p.A5436V Missense 52/55 - 1
12-49416405-C-T c.16306G>A p.A5436T Missense 52/55 - 1
12-49416407-A-C c.16304T>G p.V5435G Missense 52/55 - 3
12-49416411-C-T c.16300G>A p.E5434K Missense 52/55 - 7
12-49416412-G-A c.16299C>T p.N5433= Synonymous 52/55 - 1
12-49416416-C-A c.16295G>T p.R5432L Missense 52/55 - 4
12-49416416-C-T c.16295G>A p.R5432Q Missense 52/55 - 23
12-49416415-C-A c.16296G>T p.R5432= Synonymous 52/55 - 1
12-49416415-C-G c.16296G>C p.R5432= Synonymous 52/55 - 1
12-49416415-C-T c.16296G>A p.R5432= Synonymous 52/55 - 1
12-49416417-G-A c.16294C>T p.R5432W Missense 52/55 - 32
12-49416417-G-C c.16294C>G p.R5432G Missense 52/55 - 1
12-49416417-G-T c.16294C>A p.R5432= Synonymous 52/55 - 1
12-49416420-T-G c.16291A>C p.I5431L Missense 52/55 - 1
12-49416421-G-C c.16290C>G p.I5430M Missense 52/55 - 1
12-49416422-A-G c.16289T>C p.I5430T Missense 52/55 - 1
12-49416423-T-C c.16288A>G p.I5430V Missense 52/55 - 2
12-49416426-T-C c.16285A>G p.T5429A Missense 52/55 - 2
12-49416425-GTGCCAATGTACTCGA-G c.16271_16285del p.I5424_G5428del InFrameDeletion 52/55 - 1
12-49416428-C-T c.16283G>A p.G5428D Missense 52/55 - 6
12-49416429-C-T c.16282G>A p.G5428S Missense 52/55 - 1
12-49416430-A-C c.16281T>G p.I5427M Missense 52/55 - 3
12-49416433-G-C c.16278C>G p.Y5426* Nonsense 52/55 - 2
12-49416433-G-T c.16278C>A p.Y5426* Nonsense 52/55 - 1
12-49416435-A-C c.16276T>G p.Y5426D Missense 52/55 - 1
12-49416436-C-A c.16275G>T p.E5425D Missense 52/55 - 1
12-49416436-C-G c.16275G>C p.E5425D Missense 52/55 - 1
12-49416437-T-C c.16274A>G p.E5425G Missense 52/55 - 1
12-49416438-C-T c.16273G>A p.E5425K Missense 52/55 - 12
12-49416439-G-C c.16272C>G p.I5424M Missense 52/55 - 1
12-49416441-T-C c.16270A>G p.I5424V Missense 52/55 - 1
12-49416444-C-A c.16267G>T p.V5423F Missense 52/55 - 7
12-49416446-A-G c.16265T>C p.M5422T Missense 52/55 - 1
12-49416447-T-A c.16264A>T p.M5422L Missense 52/55 - 1
12-49416447-T-C c.16264A>G p.M5422V Missense 52/55 - 1
12-49416447-T-G c.16264A>C p.M5422L Missense 52/55 - 1
12-49416452-T-C c.16259A>G p.H5420R Missense 52/55 - 1
12-49416453-G-A c.16258C>T p.H5420Y Missense 52/55 - 1
12-49416454-C-A c.16257G>T p.K5419N Missense 52/55 - 1
12-49416454-C-G c.16257G>C p.K5419N Missense 52/55 - 1
12-49416454-C-T c.16257G>A p.K5419= Synonymous 52/55 - 1
12-49416462-G-A c.16249C>T p.L5417= Synonymous 52/55 - 1
12-49416462-G-T c.16249C>A p.L5417I Missense 52/55 - 1
12-49416466-C-A c.16245G>T p.K5415N Missense 52/55 - 1
12-49416466-C-G c.16245G>C p.K5415N Missense 52/55 - 1
12-49416466-CT-C c.16244del p.K5415Rfs*3 Frameshift 52/55 - 1
12-49416471-C-A c.16240G>T p.A5414S Missense 52/55 - 1
12-49416473-G-A c.16238C>T p.A5413V Missense 52/55 - 2
12-49416476-T-C c.16235A>G p.Y5412C Missense 52/55 - 1
12-49416476-T-G c.16235A>C p.Y5412S Missense 52/55 - 1
12-49416480-G-C c.16231C>G p.L5411V Missense 52/55 - 1
12-49416482-C-G c.16229G>C p.G5410A Missense 52/55 - 1
12-49416482-C-T c.16229G>A p.G5410E Missense 52/55 - 5
12-49416483-C-A c.16228G>T p.G5410W Missense 52/55 - 3
12-49416489-C-T c.16222G>A p.G5408S Missense 52/55 - 4
12-49416497-C-T c.16214G>A p.R5405H Missense 52/55 - 10
12-49416498-G-A c.16213C>T p.R5405C Missense 52/55 - 3
12-49416500-G-A c.16211C>T p.S5404F Missense 52/55 - 9
12-49416500-G-C c.16211C>G p.S5404C Missense 52/55 - 2
12-49416504-G-A c.16207C>T p.R5403C Missense 52/55 - 4
12-49416506-G-A c.16205C>T p.A5402V Missense 52/55 - 3
12-49416507-C-T c.16204G>A p.A5402T Missense 52/55 - 1
12-49416509-A-G c.16202T>C p.L5401P Missense 52/55 - 1
12-49416510-G-T c.16201C>A p.L5401M Missense 52/55 - 1
12-49416512-T-G c.16199A>C p.Y5400S Missense 52/55 - 1
12-49416516-C-A c.16195G>T p.V5399L Missense 52/55 - 1
12-49416516-C-G c.16195G>C p.V5399L Missense 52/55 - 1
12-49416517-G-A c.16194C>T p.N5398= Synonymous 52/55 - 2
12-49416518-T-C c.16193A>G p.N5398S Missense 52/55 - 1
12-49416526-C-A c.16185G>T p.W5395C Missense 52/55 - 4
12-49416526-C-G c.16185G>C p.W5395C Missense 52/55 - 2
12-49416526-C-T c.16185G>A p.W5395* Nonsense 52/55 - 1
12-49416527-C-T c.16184G>A p.W5395* Nonsense 52/55 - 5
12-49416528-A-G c.16183T>C p.W5395R Missense 52/55 - 3
12-49416528-A-T c.16183T>A p.W5395R Missense 52/55 - 2
12-49416531-C-T c.16180G>A p.E5394K Missense 52/55 - 4
12-49416532-G-A c.16179C>T p.T5393= Synonymous 52/55 - 1
12-49416532-G-C c.16179C>G p.T5393= Synonymous 52/55 - 1
12-49416532-G-T c.16179C>A p.T5393= Synonymous 52/55 - 1
12-49416534-T-C c.16177A>G p.T5393A Missense 52/55 - 1
12-49416536-C-T c.16175G>A p.R5392H Missense 52/55 - 2
12-49416537-G-A c.16174C>T p.R5392C Missense 52/55 - 4
12-49416538-C-A c.16173G>T p.L5391= Synonymous 52/55 - 1
12-49416538-C-G c.16173G>C p.L5391= Synonymous 52/55 - 1
12-49416538-C-T c.16173G>A p.L5391= Synonymous 52/55 - 1
12-49416540-G-A c.16171C>T p.L5391= Synonymous 52/55 - 1
12-49416542-C-T c.16169G>A p.R5390Q Missense 52/55 - 1
12-49416543-G-A c.16168C>T p.R5390W Missense 52/55 - 4
12-49416545-C-T c.16166G>A p.R5389Q Missense 52/55 - 1
12-49416544-C-A c.16167G>T p.R5389= Synonymous 52/55 - 1
12-49416544-C-G c.16167G>C p.R5389= Synonymous 52/55 - 1
12-49416544-C-T c.16167G>A p.R5389= Synonymous 52/55 - 1
12-49416546-G-A c.16165C>T p.R5389W Missense 52/55 - 4
12-49416546-G-T c.16165C>A p.R5389= Synonymous 52/55 - 1
12-49416547-G-A c.16164C>T p.Y5388= Synonymous 52/55 - 2
12-49416548-T-C c.16163A>G p.Y5388C Missense 52/55 - 1
12-49416551-T-A c.16160A>T p.Q5387L Missense 52/55 - 1
12-49416551-T-C c.16160A>G p.Q5387R Missense 52/55 - 1
12-49416552-G-A c.16159C>T p.Q5387* Nonsense 52/55 - 9
12-49416551-TGA-T c.16158_16159del p.Q5387Vfs*71 Frameshift 52/55 - 1
12-49416554-G-A c.16157C>T p.S5386F Missense 52/55 - 1
12-49416557-G-A c.16154C>T p.S5385L Missense 52/55 - 2
12-49416557-G-T c.16154C>A p.S5385* Nonsense 52/55 - 1
12-49416562-G-A c.16149C>T p.S5383= Synonymous 52/55 - 1
12-49416565-G-T c.16146C>A p.H5382Q Missense 52/55 - 1
12-49416567-G-A c.16144C>T p.H5382Y Missense 52/55 - 1
12-49416576-G-A c.16135C>T p.Q5379* Nonsense 52/55 - 1
12-49416578-T-C c.16133A>G p.K5378R Missense 52/55 - 1
12-49416579-T-C c.16132A>G p.K5378E Missense 52/55 - 1
12-49416583-G-C c.16128C>G p.Y5376* Nonsense 52/55 - 1
12-49416583-G-T c.16128C>A p.Y5376* Nonsense 52/55 - 1
12-49416584-T-C c.16127A>G p.Y5376C Missense 52/55 - 1
12-49416587-G-A c.16124C>T p.P5375L Missense 52/55 - 2
12-49416588-G-A c.16123C>T p.P5375S Missense 52/55 - 1
12-49416585-AG-A c.16125del p.Y5376Tfs*42 Frameshift 52/55 - 1
12-49416593-T-C c.16118A>G p.N5373S Missense 52/55 - 2
12-49416594-T-G c.16117A>C p.N5373H Missense 52/55 - 2
12-49416596-G-C c.16115C>G p.T5372S Missense 52/55 - 2
12-49416600-C-T c.16111G>A p.E5371K Missense 52/55 - 5
12-49416601-G-A c.16110C>T p.G5370= Synonymous 52/55 - 3
12-49416601-G-C c.16110C>G p.G5370= Synonymous 52/55 - 1
12-49416601-G-T c.16110C>A p.G5370= Synonymous 52/55 - 1
12-49416608-A-C c.16103T>G p.F5368C Missense 52/55 - 1
12-49416613-GCT-G c.16096_16097del p.S5366Hfs*92 Frameshift 52/55 - 1
12-49416618-G-A c.16093C>T p.Q5365* Nonsense 52/55 - 2
12-49416618-G-C c.16093C>G p.Q5365E Missense 52/55 - 1
12-49416619-A-C c.16092T>G p.Y5364* Nonsense 52/55 - 1
12-49416619-A-T c.16092T>A p.Y5364* Nonsense 52/55 - 2
12-49416621-A-T c.16090T>A p.Y5364N Missense 52/55 - 4
12-49416622-T-C c.16089A>G p.A5363= Synonymous 52/55 - 1
12-49416623-G-A c.16088C>T p.A5363V Missense 52/55 - 2
12-49416624-C-T c.16087G>A p.A5363T Missense 52/55 - 4
12-49416625-CCT-C c.16085_16086del p.K5362Sfs*96 Frameshift 52/55 - 2
12-49416625-C-T c.16086G>A p.K5362= Synonymous 52/55 - 1
12-49416630-A-T c.16081T>A p.S5361T Missense 52/55 - 1
12-49416635-C-A c.16076G>T p.S5359I Missense 52/55 - 1
12-49416635-C-T c.16076G>A p.S5359N Missense 52/55 - 1
12-49416638-G-A c.16073C>T p.T5358I Missense 52/55 - 1
12-49416641-C-G c.16070G>C p.S5357T Missense 52/55 - 1
12-49416641-C-T c.16070G>A p.S5357N Missense 52/55 - 1
12-49416644-T-C c.16067A>G p.N5356S Missense 52/55 - 2
12-49416647-A-C c.16064T>G p.L5355R Missense 52/55 - 1
12-49416648-G-A c.16063C>T p.L5355= Synonymous 52/55 - 1
12-49416654-G-A c.16057C>T p.H5353Y Missense 52/55 - 1
12-49416653-TGG-T c.16056_16057del p.H5353Yfs*9 Frameshift 52/55 - 1
12-49416694-C-T c.16053-36G>A - IntronicSNV - 51/54 1
12-49416944-T-C c.16053-286A>G - IntronicSNV - 51/54 4
12-49417838-C-A c.16052+523G>T - IntronicSNV - 51/54 1
12-49417838-C-G c.16052+523G>C - IntronicSNV - 51/54 1
12-49418057-CAGG-C c.16052+301_16052+303del - IntronicDeletion - 51/54 1
12-49418359-A-C c.16052+2T>G - IntronicSNV - 51/54 1
12-49418359-A-G c.16052+2T>C - IntronicSNV - 51/54 1
12-49418361-C-A c.16052G>T p.R5351L Missense 51/55 - 4
12-49418361-C-T c.16052G>A p.R5351Q Missense 51/55 - 16
12-49418362-G-A c.16051C>T p.R5351W Missense 51/55 - 3
12-49418365-T-A c.16048A>T p.K5350* Nonsense 51/55 - 2
12-49418366-G-C c.16047C>G p.Y5349* Nonsense 51/55 - 1
12-49418366-G-T c.16047C>A p.Y5349* Nonsense 51/55 - 2
12-49418366-TG-T c.16047del p.Y5349* Frameshift 51/55 - 1
12-49418367-T-C c.16046A>G p.Y5349C Missense 51/55 - 1
12-49418377-G-A c.16036C>T p.L5346F Missense 51/55 - 1
12-49418380-T-C c.16033A>G p.I5345V Missense 51/55 - 1
12-49418389-C-G c.16024G>C p.E5342Q Missense 51/55 - 1
12-49418391-G-A c.16022C>T p.S5341L Missense 51/55 - 1
12-49418391-G-C c.16022C>G p.S5341* Nonsense 51/55 - 1
12-49418394-C-A c.16019G>T p.R5340L Missense 51/55 - 1
12-49418394-C-T c.16019G>A p.R5340Q Missense 51/55 - 10
12-49418395-G-A c.16018C>T p.R5340* Nonsense 51/55 - 7
12-49418395-G-T c.16018C>A p.R5340= Synonymous 51/55 - 1
12-49418397-G-A c.16016C>T p.A5339V Missense 51/55 - 3
12-49418398-C-G c.16015G>C p.A5339P Missense 51/55 - 1
12-49418398-C-T c.16015G>A p.A5339T Missense 51/55 - 1
12-49418401-A-G c.16012T>C p.C5338R Missense 51/55 - 5
12-49418409-G-A c.16004C>T p.P5335L Missense 51/55 - 1
12-49418409-G-T c.16004C>A p.P5335H Missense 51/55 - 1
12-49418412-T-C c.16001A>G p.N5334S Missense 51/55 - 1
12-49418417-C-A c.15996G>T p.M5332I Missense 51/55 - 10
12-49418417-C-G c.15996G>C p.M5332I Missense 51/55 - 6
12-49418417-C-T c.15996G>A p.M5332I Missense 51/55 - 6
12-49418418-A-AT c.15994dup p.M5332Nfs*13 Frameshift 51/55 - 1
12-49418419-T-C c.15994A>G p.M5332V Missense 51/55 - 6
12-49418420-G-A c.15993C>T p.L5331= Synonymous 51/55 - 2
12-49418420-G-C c.15993C>G p.L5331= Synonymous 51/55 - 2
12-49418420-G-T c.15993C>A p.L5331= Synonymous 51/55 - 2
12-49418424-G-T c.15989C>A p.P5330Q Missense 51/55 - 1
12-49418429-C-G c.15984G>C p.E5328D Missense 51/55 - 1
12-49418434-T-G c.15979A>C p.M5327L Missense 51/55 - 1
12-49418435-A-C c.15978T>G p.L5326= Synonymous 51/55 - 6
12-49418436-A-G c.15977T>C p.L5326P Missense 51/55 - 1
12-49418437-G-A c.15976C>T p.L5326F Missense 51/55 - 1
12-49418437-G-T c.15976C>A p.L5326I Missense 51/55 - 1
12-49418438-G-A c.15975C>T p.P5325= Synonymous 51/55 - 1
12-49418438-G-C c.15975C>G p.P5325= Synonymous 51/55 - 1
12-49418438-G-T c.15975C>A p.P5325= Synonymous 51/55 - 1
12-49418440-G-T c.15973C>A p.P5325T Missense 51/55 - 1
12-49418436-AG-A c.15976del p.M5327Wfs*6 Frameshift 51/55 - 1
12-49418441-G-A c.15972C>T p.H5324= Synonymous 51/55 - 1
12-49418445-C-T c.15968G>A p.R5323H Missense 51/55 - 3
12-49418446-G-A c.15967C>T p.R5323C Missense 51/55 - 5
12-49418448-C-A c.15965G>T p.G5322V Missense 51/55 - 1
12-49418448-C-T c.15965G>A p.G5322E Missense 51/55 - 1
12-49418449-C-G c.15964G>C p.G5322R Missense 51/55 - 2
12-49418449-C-T c.15964G>A p.G5322R Missense 51/55 - 4
12-49418451-T-A c.15962A>T p.Y5321F Missense 51/55 - 1
12-49418451-T-C c.15962A>G p.Y5321C Missense 51/55 - 1
12-49418454-C-T c.15959G>A p.R5320H Missense 51/55 - 3
12-49418455-G-A c.15958C>T p.R5320C Missense 51/55 - 2
12-49418460-A-G c.15953T>C p.L5318S Missense 51/55 - 1
12-49418456-GAATA-G c.15953_15956del p.L5318Sfs*14 Frameshift 51/55 - 2
12-49418462-A-C c.15951T>G p.Y5317* Nonsense 51/55 - 1
12-49418462-A-T c.15951T>A p.Y5317* Nonsense 51/55 - 1
12-49418465-G-C c.15948C>G p.N5316K Missense 51/55 - 1
12-49418470-G-A c.15943C>T p.Q5315* Nonsense 51/55 - 5
12-49418470-G-C c.15943C>G p.Q5315E Missense 51/55 - 1
12-49418471-ACAGCTCTCCACCCCGGG-A c.15925_15941del p.P5309Sfs*30 Frameshift 51/55 50/54 1
12-49418477-C-T c.15936G>A p.E5312= Synonymous 51/55 - 1
12-49418484-C-A c.15929G>T p.G5310V Missense 51/55 - 1
12-49418481-A-AC c.15931dup p.V5311Gfs*34 Frameshift 51/55 - 1
12-49418485-C-A c.15928G>T p.G5310W Missense 51/55 - 1
12-49418485-C-G c.15928G>C p.G5310R Missense 51/55 - 4
12-49418485-C-T c.15928G>A p.G5310R Missense 51/55 - 7
12-49418486-G-A c.15927C>T p.P5309= Synonymous 51/55 - 3
12-49418486-G-C c.15927C>G p.P5309= Synonymous 51/55 - 3
12-49418486-G-T c.15927C>A p.P5309= Synonymous 51/55 - 3
12-49418487-G-C c.15926C>G p.P5309R Missense 51/55 - 1
12-49418566-C-G c.15921+27G>C - IntronicSNV - 50/54 1
12-49418587-CCTTA-C c.15921+2_15921+5del - IntronicDeletion 50/55 50/54 1
12-49418591-A-C c.15921+2T>G - IntronicSNV - 50/54 1
12-49418592-C-T c.15921+1G>A - IntronicSNV - 50/54 1
12-49418593-T-A c.15921A>T p.S5307= Synonymous 50/55 - 1
12-49418593-T-TA c.15920_15921insT p.L5308Tfs*37 SpliceDonorInsertion 50/55 - 2
12-49418597-T-C c.15917A>G p.E5306G Missense 50/55 - 2
12-49418598-C-T c.15916G>A p.E5306K Missense 50/55 - 1
12-49418600-G-A c.15914C>T p.A5305V Missense 50/55 - 2
12-49418602-T-A c.15912A>T p.I5304= Synonymous 50/55 - 1
12-49418604-T-C c.15910A>G p.I5304V Missense 50/55 - 2
12-49418606-C-T c.15908G>A p.R5303H Missense 50/55 - 8
12-49418607-G-A c.15907C>T p.R5303C Missense 50/55 - 4
12-49418609-A-C c.15905T>G p.L5302R Missense 50/55 - 1
12-49418610-G-T c.15904C>A p.L5302I Missense 50/55 - 1
12-49418611-C-T c.15903G>A p.V5301= Synonymous 50/55 - 1
12-49418610-GCA-G c.15902_15903del p.V5301Afs*5 Frameshift 50/55 - 1
12-49418613-C-T c.15901G>A p.V5301M Missense 50/55 - 1
12-49418615-GC-TG c.15898_15899delinsCA p.A5300H Missense 50/55 - 1
12-49418616-C-T c.15898G>A p.A5300T Missense 50/55 - 1
12-49418616-C-CA c.15897dup p.A5300Cfs*7 Frameshift 50/55 - 1
12-49418618-T-C c.15896A>G p.H5299R Missense 50/55 - 2
12-49418621-A-G c.15893T>C p.V5298A Missense 50/55 - 2
12-49418624-G-A c.15890C>T p.T5297M Missense 50/55 - 3
12-49418631-C-G c.15883G>C p.G5295R Missense 50/55 - 1
12-49418631-C-T c.15883G>A p.G5295R Missense 50/55 - 1
12-49418636-A-C c.15878T>G p.L5293R Missense 50/55 - 1
12-49418638-C-A c.15876G>T p.E5292D Missense 50/55 - 1
12-49418638-C-G c.15876G>C p.E5292D Missense 50/55 - 1
12-49418640-C-A c.15874G>T p.E5292* Nonsense 50/55 - 1
12-49418641-C-G c.15873G>C p.E5291D Missense 50/55 - 1
12-49418643-C-A c.15871G>T p.E5291* Nonsense 50/55 - 1
12-49418643-C-T c.15871G>A p.E5291K Missense 50/55 - 8
12-49418640-CCTCGCCCTTCAGATA-C c.15859_15873del p.Y5287_E5291del InFrameDeletion 50/55 - 1
12-49418644-G-A c.15870C>T p.G5290= Synonymous 50/55 - 4
12-49418644-G-C c.15870C>G p.G5290= Synonymous 50/55 - 3
12-49418644-G-T c.15870C>A p.G5290= Synonymous 50/55 - 3
12-49418645-C-T c.15869G>A p.G5290D Missense 50/55 - 1
12-49418646-C-T c.15868G>A p.G5290S Missense 50/55 - 1
12-49418645-CCCTTCAGATACT-C c.15857_15868del p.E5286_K5289del InFrameDeletion 50/55 - 1
12-49418651-A-C c.15863T>G p.L5288R Missense 50/55 - 2
12-49418652-G-C c.15862C>G p.L5288V Missense 50/55 - 1
12-49418654-T-C c.15860A>G p.Y5287C Missense 50/55 - 2
12-49418658-C-A c.15856G>T p.E5286* Nonsense 50/55 - 1
12-49418658-C-T c.15856G>A p.E5286K Missense 50/55 - 1
12-49418660-G-C c.15854C>G p.P5285R Missense 50/55 - 4
12-49418661-G-T c.15853C>A p.P5285T Missense 50/55 - 1
12-49418665-G-A c.15849C>T p.L5283= Synonymous 50/55 - 2
12-49418665-G-C c.15849C>G p.L5283= Synonymous 50/55 - 2
12-49418665-G-T c.15849C>A p.L5283= Synonymous 50/55 - 2
12-49418669-C-T c.15845G>A p.R5282Q Missense 50/55 - 5
12-49418670-G-A c.15844C>T p.R5282* Nonsense 50/55 - 19
12-49418672-A-C c.15842T>G p.L5281R Missense 50/55 - 1
12-49418679-C-A c.15835G>T p.D5279Y Missense 50/55 - 4
12-49418679-C-T c.15835G>A p.D5279N Missense 50/55 - 1
12-49418680-CA-C c.15834del p.D5279Tfs*10 Frameshift 50/55 - 2
12-49418682-C-T c.15832G>A p.A5278T Missense 50/55 - 1
12-49418686-T-TGGGCC c.15827_15828insGGCCC p.E5277Afs*14 Frameshift 50/55 - 1
12-49418685-CT-C c.15828del p.E5277Rfs*12 Frameshift 50/55 - 1
12-49418690-C-T c.15824G>A p.R5275K Missense 50/55 - 1
12-49418692-C-A c.15822G>T p.M5274I Missense 50/55 - 1
12-49418692-C-G c.15822G>C p.M5274I Missense 50/55 - 1
12-49418692-C-T c.15822G>A p.M5274I Missense 50/55 - 2
12-49418693-A-C c.15821T>G p.M5274R Missense 50/55 - 2
12-49418696-G-C c.15818C>G p.A5273G Missense 50/55 - 2
12-49418699-G-A c.15815C>T p.A5272V Missense 50/55 - 4
12-49418699-G-C c.15815C>G p.A5272G Missense 50/55 - 1
12-49418707-C-A c.15807G>T p.E5269D Missense 50/55 - 1
12-49418709-C-T c.15805G>A p.E5269K Missense 50/55 - 1
12-49418710-CAAT-C c.15802_15804del p.I5268del InFrameDeletion 50/55 - 1
12-49418711-A-G c.15803T>C p.I5268T Missense 50/55 - 4
12-49418717-C-T c.15797G>A p.R5266H Missense 50/55 - 9
12-49418718-G-A c.15796C>T p.R5266C Missense 50/55 - 3
12-49418718-G-T c.15796C>A p.R5266S Missense 50/55 - 4
12-49418721-T-C c.15793A>G p.N5265D Missense 50/55 - 1
12-49418722-C-T c.15792G>A p.W5264* Nonsense 50/55 - 5
12-49418723-C-T c.15791G>A p.W5264* Nonsense 50/55 - 2
12-49418724-A-C c.15790T>G p.W5264G Missense 50/55 - 1
12-49418724-A-G c.15790T>C p.W5264R Missense 50/55 - 3
12-49418724-A-T c.15790T>A p.W5264R Missense 50/55 - 2
12-49418726-A-G c.15788T>C p.V5263A Missense 50/55 - 1
12-49418726-CA-C c.15788del p.V5263Gfs*12 Frameshift 50/55 - 1
12-49418727-C-A c.15787G>T p.V5263L Missense 50/55 - 2
12-49418727-C-T c.15787G>A p.V5263M Missense 50/55 - 2
12-49418728-G-A c.15786C>T p.A5262= Synonymous 50/55 - 2
12-49418729-G-C c.15785C>G p.A5262G Missense 50/55 - 2
12-49419628-G-A c.15784+337C>T - IntronicSNV - 49/54 1
12-49419677-G-C c.15784+288C>G - IntronicSNV - 49/54 3
12-49419775-G-A c.15784+190C>T - IntronicSNV - 49/54 1
12-49419924-TTTCCCATTCCATATTATCCATTTCAAGGGCCCACTGCTCACCCTGGGGAGAGGCGTCAG-T c.15767_15784+41del - SpliceDonorDeletion 49/55 49/54 1
12-49419960-C-G c.15784+5G>C - IntronicSNV - 49/54 1
12-49419961-T-A c.15784+4A>T - IntronicSNV - 49/54 1
12-49419967-T-C c.15782A>G p.Q5261R Missense 49/55 - 1
12-49419968-G-A c.15781C>T p.Q5261* Nonsense 49/55 - 6
12-49419970-G-A c.15779C>T p.P5260L Missense 49/55 - 5
12-49419977-C-T c.15772G>A p.A5258T Missense 49/55 - 2
12-49419978-G-A c.15771C>T p.D5257= Synonymous 49/55 - 1
12-49419978-G-C c.15771C>G p.D5257E Missense 49/55 - 1
12-49419978-G-T c.15771C>A p.D5257E Missense 49/55 - 1
12-49419979-T-A c.15770A>T p.D5257V Missense 49/55 - 2
12-49419980-C-T c.15769G>A p.D5257N Missense 49/55 - 1
12-49419982-G-C c.15767C>G p.T5256S Missense 49/55 - 1
12-49419982-G-T c.15767C>A p.T5256N Missense 49/55 - 2
12-49419983-T-C c.15766A>G p.T5256A Missense 49/55 - 2
12-49419983-TGAA-T c.15763_15765del p.F5255del InFrameDeletion 49/55 - 1
12-49419989-C-A c.15760G>T p.V5254F Missense 49/55 - 1
12-49419989-C-T c.15760G>A p.V5254I Missense 49/55 - 3
12-49419991-A-C c.15758T>G p.L5253R Missense 49/55 - 1
12-49419995-C-A c.15754G>T p.D5252Y Missense 49/55 - 6
12-49419995-C-T c.15754G>A p.D5252N Missense 49/55 - 1
12-49419998-C-A c.15751G>T p.E5251* Nonsense 49/55 - 5
12-49419998-C-T c.15751G>A p.E5251K Missense 49/55 - 2
12-49420000-AG-A c.15748del p.L5250Wfs*25 Frameshift 49/55 - 1
12-49420003-C-A c.15746G>T p.G5249V Missense 49/55 - 1
12-49420003-C-T c.15746G>A p.G5249D Missense 49/55 - 1
12-49420004-C-T c.15745G>A p.G5249S Missense 49/55 - 2
12-49420005-C-G c.15744G>C p.Q5248H Missense 49/55 - 1
12-49420007-G-A c.15742C>T p.Q5248* Nonsense 49/55 - 5
12-49420010-C-A c.15739G>T p.E5247* Nonsense 49/55 - 1
12-49420010-C-T c.15739G>A p.E5247K Missense 49/55 - 3
12-49420011-G-A c.15738C>T p.I5246= Synonymous 49/55 - 1
12-49420011-G-C c.15738C>G p.I5246M Missense 49/55 - 1
12-49420011-G-T c.15738C>A p.I5246= Synonymous 49/55 - 1
12-49420014-G-T c.15735C>A p.V5245= Synonymous 49/55 - 1
12-49420016-CTT-C c.15731_15732del p.K5244Sfs*13 Frameshift 49/55 - 3
12-49420018-T-C c.15731A>G p.K5244R Missense 49/55 - 2
12-49420019-T-TA c.15729_15730insT p.K5244* Nonsense 49/55 - 2
12-49420022-T-A c.15727A>T p.I5243F Missense 49/55 - 1
12-49420024-A-G c.15725T>C p.V5242A Missense 49/55 - 2
12-49420025-C-A c.15724G>T p.V5242L Missense 49/55 - 2
12-49420027-A-T c.15722T>A p.F5241Y Missense 49/55 - 1
12-49420028-A-G c.15721T>C p.F5241L Missense 49/55 - 1
12-49420031-C-A c.15718G>T p.E5240* Nonsense 49/55 - 1
12-49420032-C-A c.15717G>T p.P5239= Synonymous 49/55 - 3
12-49420032-CCGGCCGCCCG-C c.15708_15717del p.N5236Kfs*4 Frameshift 49/55 - 2
12-49420032-C-G c.15717G>C p.P5239= Synonymous 49/55 - 3
12-49420032-C-T c.15717G>A p.P5239= Synonymous 49/55 - 3
12-49420033-G-A c.15716C>T p.P5239L Missense 49/55 - 2
12-49420034-G-A c.15715C>T p.P5239S Missense 49/55 - 2
12-49420036-C-T c.15713G>A p.R5238Q Missense 49/55 - 3
12-49420037-G-A c.15712C>T p.R5238W Missense 49/55 - 1
12-49420039-C-T c.15710G>A p.G5237E Missense 49/55 - 1
12-49420040-C-G c.15709G>C p.G5237R Missense 49/55 - 1
12-49420040-C-T c.15709G>A p.G5237R Missense 49/55 - 1
12-49420042-T-C c.15707A>G p.N5236S Missense 49/55 - 2
12-49420043-T-G c.15706A>C p.N5236H Missense 49/55 - 4
12-49420049-C-A c.15700G>T p.E5234* Nonsense 49/55 - 4
12-49420049-C-T c.15700G>A p.E5234K Missense 49/55 - 6
12-49420051-C-A c.15698G>T p.G5233V Missense 49/55 - 1
12-49420050-AC-A c.15698del p.G5233Vfs*10 Frameshift 49/55 - 1
12-49420055-T-C c.15694A>G p.I5232V Missense 49/55 - 4
12-49420057-G-C c.15692C>G p.S5231C Missense 49/55 - 1
12-49420058-A-C c.15691T>G p.S5231A Missense 49/55 - 1
12-49420057-GA-G c.15691del p.S5231Lfs*12 Frameshift 49/55 - 1
12-49420060-C-A c.15689G>T p.C5230F Missense 49/55 - 7
12-49420060-C-T c.15689G>A p.C5230Y Missense 49/55 - 2
12-49420060-C-CA c.15688dup p.C5230Lfs*5 Frameshift 49/55 - 1
12-49420063-C-A c.15686G>T p.R5229L Missense 49/55 - 3
12-49420063-C-T c.15686G>A p.R5229H Missense 49/55 - 7
12-49420064-G-A c.15685C>T p.R5229C Missense 49/55 - 4
12-49420064-G-T c.15685C>A p.R5229S Missense 49/55 - 1
12-49420066-T-C c.15683A>G p.Y5228C Missense 49/55 - 1
12-49420067-A-C c.15682T>G p.Y5228D Missense 49/55 - 1
12-49420068-G-T c.15681C>A p.C5227* Nonsense 49/55 - 3
12-49420069-CA-GT c.15679_15680delinsAC p.C5227T Missense 49/55 - 1
12-49420070-A-G c.15679T>C p.C5227R Missense 49/55 - 1
12-49420071-G-T c.15678C>A p.C5226* Nonsense 49/55 - 1
12-49420066-TAGC-T c.15680_15682del p.C5227del InFrameDeletion 49/55 - 1
12-49420075-C-A c.15674G>T p.R5225L Missense 49/55 - 1
12-49420075-C-T c.15674G>A p.R5225H Missense 49/55 - 1
12-49420076-G-A c.15673C>T p.R5225C Missense 49/55 - 7
12-49420077-A-C c.15672T>G p.R5224= Synonymous 49/55 - 1
12-49420077-A-G c.15672T>C p.R5224= Synonymous 49/55 - 1
12-49420077-A-T c.15672T>A p.R5224= Synonymous 49/55 - 1
12-49420077-A-ACC c.15671_15672insGG p.R5225Vfs*19 Frameshift 49/55 - 1
12-49420078-AC-A c.15671del p.R5224Lfs*19 Frameshift 49/55 - 1
12-49420078-C-T c.15671G>A p.R5224H Missense 49/55 - 16
12-49420079-G-A c.15670C>T p.R5224C Missense 49/55 - 2
12-49420079-G-T c.15670C>A p.R5224S Missense 49/55 - 1
12-49420080-A-C c.15669T>G p.N5223K Missense 49/55 - 1
12-49420080-A-T c.15669T>A p.N5223K Missense 49/55 - 1
12-49420081-T-A c.15668A>T p.N5223I Missense 49/55 - 1
12-49420081-T-C c.15668A>G p.N5223S Missense 49/55 - 6
12-49420082-T-A c.15667A>T p.N5223Y Missense 49/55 - 1
12-49420083-G-C c.15666C>G p.N5222K Missense 49/55 - 1
12-49420083-G-T c.15666C>A p.N5222K Missense 49/55 - 3
12-49420087-G-A c.15662C>T p.T5221I Missense 49/55 - 2
12-49420088-T-A c.15661A>T p.T5221S Missense 49/55 - 1
12-49420089-G-A c.15660C>T p.R5220= Synonymous 49/55 - 1
12-49420089-G-C c.15660C>G p.R5220= Synonymous 49/55 - 1
12-49420089-G-T c.15660C>A p.R5220= Synonymous 49/55 - 1
12-49420090-C-T c.15659G>A p.R5220H Missense 49/55 - 5
12-49420091-G-A c.15658C>T p.R5220C Missense 49/55 - 5
12-49420094-G-T c.15655C>A p.L5219I Missense 49/55 - 1
12-49420095-G-C c.15654C>G p.S5218R Missense 49/55 - 1
12-49420095-G-T c.15654C>A p.S5218R Missense 49/55 - 1
12-49420097-T-G c.15652A>C p.S5218R Missense 49/55 - 1
12-49420096-C-G c.15653G>C p.S5218T Missense 49/55 - 1
12-49420098-C-A c.15651G>T p.W5217C Missense 49/55 - 1
12-49420098-C-G c.15651G>C p.W5217C Missense 49/55 - 1
12-49420098-C-T c.15651G>A p.W5217* Nonsense 49/55 - 1
12-49420099-C-T c.15650G>A p.W5217* Nonsense 49/55 - 2
12-49420100-A-G c.15649T>C p.W5217R Missense 49/55 - 5
12-49420100-A-T c.15649T>A p.W5217R Missense 49/55 - 1
12-49420101-A-C c.15648T>G p.Y5216* Nonsense 49/55 - 1
12-49420101-A-T c.15648T>A p.Y5216* Nonsense 49/55 - 1
12-49420102-T-C c.15647A>G p.Y5216C Missense 49/55 - 3
12-49420108-C-A c.15641G>T p.R5214L Missense 49/55 - 5
12-49420108-C-G c.15641G>C p.R5214P Missense 49/55 - 4
12-49420108-C-T c.15641G>A p.R5214H Missense 49/55 - 18
12-49420109-G-A c.15640C>T p.R5214C Missense 49/55 - 15
12-49420109-G-T c.15640C>A p.R5214S Missense 49/55 - 1
12-49420110-C-A c.15639G>T p.T5213= Synonymous 49/55 - 2
12-49420110-C-G c.15639G>C p.T5213= Synonymous 49/55 - 2
12-49420110-C-T c.15639G>A p.T5213= Synonymous 49/55 - 2
12-49420110-GC-G c.15639del p.R5214Afs*29 Frameshift 49/55 - 1
12-49420111-G-A c.15638C>T p.T5213M Missense 49/55 - 2
12-49420113-G-A c.15636C>T p.A5212= Synonymous 49/55 - 1
12-49420113-G-C c.15636C>G p.A5212= Synonymous 49/55 - 1
12-49420113-G-T c.15636C>A p.A5212= Synonymous 49/55 - 1
12-49420114-G-T c.15635C>A p.A5212D Missense 49/55 - 1
12-49420115-C-G c.15634G>C p.A5212P Missense 49/55 - 1
12-49420115-C-T c.15634G>A p.A5212T Missense 49/55 - 1
12-49420118-C-T c.15631G>A p.E5211K Missense 49/55 - 3
12-49420119-G-A c.15630C>T p.Y5210= Synonymous 49/55 - 2
12-49420120-T-C c.15629A>G p.Y5210C Missense 49/55 - 1
12-49420120-T-G c.15629A>C p.Y5210S Missense 49/55 - 7
12-49420123-C-A c.15626G>T p.G5209V Missense 49/55 - 2
12-49420124-C-A c.15625G>T p.G5209C Missense 49/55 - 6
12-49420127-C-A c.15622G>T p.V5208L Missense 49/55 - 1
12-49420127-C-T c.15622G>A p.V5208M Missense 49/55 - 2
12-49420129-G-A c.15620C>T p.P5207L Missense 49/55 - 1
12-49420127-CG-C c.15621del p.V5208Wfs*35 Frameshift 49/55 - 1
12-49420130-G-A c.15619C>T p.P5207S Missense 49/55 - 1
12-49420131-A-C c.15618T>G p.Y5206* Nonsense 49/55 - 1
12-49420131-A-T c.15618T>A p.Y5206* Nonsense 49/55 - 1
12-49420132-T-A c.15617A>T p.Y5206F Missense 49/55 - 1
12-49420132-T-C c.15617A>G p.Y5206C Missense 49/55 - 1
12-49420135-GAGGGCAGTGGCAC-G c.15602_15614del p.S5201Tfs*38 Frameshift 49/55 - 1
12-49420136-G-A c.15613C>T p.L5205F Missense 49/55 - 1
12-49420144-G-A c.15605C>T p.A5202V Missense 49/55 - 2
12-49420145-C-A c.15604G>T p.A5202S Missense 49/55 - 1
12-49420150-ATGAAAGTCAGCCATCT-A c.15584_15599del p.Q5195Lfs*43 Frameshift 49/55 - 1
12-49420151-G-A c.15598C>T p.H5200Y Missense 49/55 - 1
12-49420153-A-C c.15596T>G p.F5199C Missense 49/55 - 1
12-49420157-C-T c.15592G>A p.D5198N Missense 49/55 - 3
12-49420157-C-CA c.15591dup p.D5198* Nonsense 49/55 - 1
12-49420159-G-A c.15590C>T p.A5197V Missense 49/55 - 1
12-49420160-C-A c.15589G>T p.A5197S Missense 49/55 - 1
12-49420160-C-T c.15589G>A p.A5197T Missense 49/55 - 2
12-49420162-A-T c.15587T>A p.M5196K Missense 49/55 - 1
12-49420163-T-A c.15586A>T p.M5196L Missense 49/55 - 1
12-49420163-T-G c.15586A>C p.M5196L Missense 49/55 - 1
12-49420164-C-A c.15585G>T p.Q5195H Missense 49/55 - 3
12-49420164-C-G c.15585G>C p.Q5195H Missense 49/55 - 4
12-49420164-C-T c.15585G>A p.Q5195= Synonymous 49/55 - 2
12-49420166-G-A c.15583C>T p.Q5195* Nonsense 49/55 - 3
12-49420167-G-A c.15582C>T p.H5194= Synonymous 49/55 - 1
12-49420169-TG-T c.15580del p.H5194Tfs*49 Frameshift 49/55 - 1
12-49420171-G-A c.15578C>T p.P5193L Missense 49/55 - 3
12-49420172-G-A c.15577C>T p.P5193S Missense 49/55 - 1
12-49420173-C-A c.15576G>T p.L5192= Synonymous 49/55 - 2
12-49420173-C-G c.15576G>C p.L5192= Synonymous 49/55 - 2
12-49420173-C-T c.15576G>A p.L5192= Synonymous 49/55 - 2
12-49420175-G-A c.15574C>T p.L5192= Synonymous 49/55 - 2
12-49420177-A-G c.15572T>C p.L5191P Missense 49/55 - 1
12-49420181-G-A c.15568C>T p.Q5190* Nonsense 49/55 - 7
12-49420183-C-A c.15566G>T p.G5189V Missense 49/55 - 1
12-49420183-C-G c.15566G>C p.G5189A Missense 49/55 - 1
12-49420184-C-A c.15565G>T p.G5189* Nonsense 49/55 - 1
12-49420184-C-G c.15565G>C p.G5189R Missense 49/55 - 5
12-49420184-C-T c.15565G>A p.G5189R Missense 49/55 - 10
12-49420185-G-A c.15564C>T p.I5188= Synonymous 49/55 - 4
12-49420185-G-C c.15564C>G p.I5188M Missense 49/55 - 1
12-49420187-T-C c.15562A>G p.I5188V Missense 49/55 - 1
12-49420189-G-C c.15560C>G p.A5187G Missense 49/55 - 3
12-49420190-C-G c.15559G>C p.A5187P Missense 49/55 - 1
12-49420190-C-T c.15559G>A p.A5187T Missense 49/55 - 4
12-49420191-CG-C c.15558del p.H5186Qfs*57 Frameshift 49/55 - 1
12-49420193-G-A c.15556C>T p.H5186Y Missense 49/55 - 1
12-49420194-G-A c.15555C>T p.F5185= Synonymous 49/55 - 2
12-49420194-G-C c.15555C>G p.F5185L Missense 49/55 - 2
12-49420194-G-T c.15555C>A p.F5185L Missense 49/55 - 1
12-49420196-A-G c.15553T>C p.F5185L Missense 49/55 - 1
12-49420199-C-A c.15550G>T p.V5184L Missense 49/55 - 1
12-49420199-C-G c.15550G>C p.V5184L Missense 49/55 - 3
12-49420201-A-G c.15548T>C p.L5183P Missense 49/55 - 1
12-49420201-A-AG c.15547dup p.L5183Pfs*16 Frameshift 49/55 - 1
12-49420201-AG-A c.15547del p.V5184Cfs*59 Frameshift 49/55 - 7
12-49420204-C-T c.15545G>A p.G5182D Missense 49/55 - 4
12-49420205-C-T c.15544G>A p.G5182S Missense 49/55 - 1
12-49420203-GCCCC-G c.15542_15545del p.G5181Afs*61 Frameshift 49/55 - 1
12-49420206-C-A c.15543G>T p.G5181= Synonymous 49/55 - 1
12-49420206-C-G c.15543G>C p.G5181= Synonymous 49/55 - 1
12-49420206-C-T c.15543G>A p.G5181= Synonymous 49/55 - 1
12-49420208-C-A c.15541G>T p.G5181W Missense 49/55 - 1
12-49420203-GC-G c.15545del p.G5182Afs*61 Frameshift 49/55 - 7
12-49420203-G-GC c.15545dup p.L5183Pfs*16 Frameshift 49/55 - 4
12-49420209-C-A c.15540G>T p.V5180= Synonymous 49/55 - 1
12-49420209-C-G c.15540G>C p.V5180= Synonymous 49/55 - 2
12-49420209-C-T c.15540G>A p.V5180= Synonymous 49/55 - 1
12-49420210-A-C c.15539T>G p.V5180G Missense 49/55 - 3
12-49420213-C-A c.15536G>T p.R5179L Missense 49/55 - 8
12-49420213-C-G c.15536G>C p.R5179P Missense 49/55 - 3
12-49420213-C-T c.15536G>A p.R5179H Missense 49/55 - 24
12-49420214-G-A c.15535C>T p.R5179C Missense 49/55 - 17
12-49420214-G-T c.15535C>A p.R5179S Missense 49/55 - 1
12-49420215-G-A c.15534C>T p.F5178= Synonymous 49/55 - 1
12-49420216-A-G c.15533T>C p.F5178S Missense 49/55 - 1
12-49420216-A-T c.15533T>A p.F5178Y Missense 49/55 - 3
12-49420215-G-C c.15534C>G p.F5178L Missense 49/55 - 1
12-49420215-G-T c.15534C>A p.F5178L Missense 49/55 - 1
12-49420217-A-G c.15532T>C p.F5178L Missense 49/55 - 1
12-49420218-C-T c.15531G>A p.M5177I Missense 49/55 - 1
12-49420220-T-C c.15529A>G p.M5177V Missense 49/55 - 3
12-49420223-G-T c.15526C>A p.H5176N Missense 49/55 - 5
12-49420226-G-A c.15523C>T p.L5175= Synonymous 49/55 - 1
12-49420229-CG-C c.15520del p.R5174Gfs*69 Frameshift 49/55 - 1
12-49420229-G-A c.15520C>T p.R5174W Missense 49/55 - 2
12-49420231-T-C c.15518A>G p.E5173G Missense 49/55 - 1
12-49420232-C-CA c.15516_15517insT p.E5173* Nonsense 49/55 - 1
12-49420234-C-A c.15515G>T p.G5172V Missense 49/55 - 1
12-49420237-C-T c.15512G>A p.R5171Q Missense 49/55 - 2
12-49420236-C-A c.15513G>T p.R5171= Synonymous 49/55 - 1
12-49420236-C-G c.15513G>C p.R5171= Synonymous 49/55 - 1
12-49420236-C-T c.15513G>A p.R5171= Synonymous 49/55 - 1
12-49420238-G-A c.15511C>T p.R5171W Missense 49/55 - 4
12-49420238-G-T c.15511C>A p.R5171= Synonymous 49/55 - 1
12-49420240-T-A c.15509A>T p.Q5170L Missense 49/55 - 1
12-49420241-G-A c.15508C>T p.Q5170* Nonsense 49/55 - 6
12-49420243-A-G c.15506T>C p.I5169T Missense 49/55 - 4
12-49420243-A-T c.15506T>A p.I5169N Missense 49/55 - 1
12-49420247-T-C c.15502A>G p.I5168V Missense 49/55 - 2
12-49420250-T-C c.15499A>G p.S5167G Missense 49/55 - 2
12-49420253-C-T c.15496G>A p.A5166T Missense 49/55 - 4
12-49420254-CGA-C c.15494_15495del p.I5165Sfs*2 Frameshift 49/55 - 1
12-49420254-CG-C c.15495del p.I5165Mfs*78 Frameshift 49/55 - 2
12-49420254-G-C c.15495C>G p.I5165M Missense 49/55 - 2
12-49420257-T-C c.15492A>G p.Q5164= Synonymous 49/55 - 1
12-49420260-C-A c.15489G>T p.K5163N Missense 49/55 - 1
12-49420262-T-A c.15487A>T p.K5163* Nonsense 49/55 - 1
12-49420264-A-C c.15485T>G p.V5162G Missense 49/55 - 4
12-49420265-C-A c.15484G>T p.V5162L Missense 49/55 - 1
12-49420265-C-G c.15484G>C p.V5162L Missense 49/55 - 1
12-49420268-C-A c.15481G>T p.E5161* Nonsense 49/55 - 3
12-49420268-C-T c.15481G>A p.E5161K Missense 49/55 - 6
12-49420269-G-A c.15480C>T p.D5160= Synonymous 49/55 - 1
12-49420271-C-G c.15478G>C p.D5160H Missense 49/55 - 6
12-49420273-C-T c.15476G>A p.R5159Q Missense 49/55 - 5
12-49420274-G-A c.15475C>T p.R5159W Missense 49/55 - 5
12-49420275-C-T c.15474G>A p.E5158= Synonymous 49/55 - 2
12-49420277-C-A c.15472G>T p.E5158* Nonsense 49/55 - 2
12-49420277-C-G c.15472G>C p.E5158Q Missense 49/55 - 1
12-49420277-C-CA c.15471dup p.E5158* Nonsense 49/55 - 4
12-49420280-T-C c.15469A>G p.I5157V Missense 49/55 - 2
12-49420282-T-A c.15467A>T p.Y5156F Missense 49/55 - 1
12-49420282-T-C c.15467A>G p.Y5156C Missense 49/55 - 4
12-49420283-TAGAC-T c.15463_15466del p.V5155Tfs*7 Frameshift 49/55 - 1
12-49420285-A-G c.15464T>C p.V5155A Missense 49/55 - 1
12-49420285-A-AC c.15463dup p.V5155Gfs*4 Frameshift 49/55 - 1
12-49420288-C-T c.15461G>A p.R5154Q Missense 49/55 - 23
12-49420289-G-A c.15460C>T p.R5154W Missense 49/55 - 6
12-49420289-G-T c.15460C>A p.R5154= Synonymous 49/55 - 1
12-49420291-C-G c.15458G>C p.R5153P Missense 49/55 - 3
12-49420291-C-T c.15458G>A p.R5153Q Missense 49/55 - 6
12-49420292-G-A c.15457C>T p.R5153W Missense 49/55 - 2
12-49420293-G-C c.15456C>G p.F5152L Missense 49/55 - 1
12-49420294-A-C c.15455T>G p.F5152C Missense 49/55 - 1
12-49420303-A-C c.15446T>G p.F5149C Missense 49/55 - 1
12-49420306-G-A c.15443C>T p.S5148F Missense 49/55 - 1
12-49420306-G-T c.15443C>A p.S5148Y Missense 49/55 - 1
12-49420309-C-G c.15440G>C p.S5147T Missense 49/55 - 1
12-49420315-T-C c.15434A>G p.E5145G Missense 49/55 - 1
12-49420322-C-A c.15427G>T p.E5143* Nonsense 49/55 - 1
12-49420323-A-T c.15426T>A p.C5142* Nonsense 49/55 - 1
12-49420325-A-G c.15424T>C p.C5142R Missense 49/55 - 1
12-49420326-G-A c.15423C>T p.P5141= Synonymous 49/55 - 3
12-49420326-G-C c.15423C>G p.P5141= Synonymous 49/55 - 3
12-49420326-G-T c.15423C>A p.P5141= Synonymous 49/55 - 3
12-49420331-C-T c.15418G>A p.G5140R Missense 49/55 - 1
12-49420328-G-GC c.15420dup p.P5141Afs*3 Frameshift 49/55 - 3
12-49420333-T-C c.15416A>G p.K5139R Missense 49/55 - 1
12-49420332-C-CT c.15416dup p.P5141Afs*3 Frameshift 49/55 - 1
12-49420335-TG-T c.15414del p.K5139Rfs*8 Frameshift 49/55 - 1
12-49420336-A-T c.15413T>A p.I5138N Missense 49/55 - 1
12-49420338-C-A c.15411G>T p.K5137N Missense 49/55 - 1
12-49420338-C-G c.15411G>C p.K5137N Missense 49/55 - 1
12-49420339-CTTATG-C c.15406_15410del p.H5136Dfs*6 Frameshift 49/55 - 1
12-49420341-A-C c.15408T>G p.H5136Q Missense 49/55 - 1
12-49420341-A-T c.15408T>A p.H5136Q Missense 49/55 - 1
12-49420342-T-A c.15407A>T p.H5136L Missense 49/55 - 1
12-49420342-T-TTC c.15406_15407insGA p.H5136Rfs*12 Frameshift 49/55 - 1
12-49420343-G-A c.15406C>T p.H5136Y Missense 49/55 - 3
12-49420345-A-G c.15404T>C p.M5135T Missense 49/55 - 1
12-49420346-T-C c.15403A>G p.M5135V Missense 49/55 - 2
12-49420346-TT-CG c.15402_15403delinsCG p.M5135V Missense 49/55 - 1
12-49420350-A-T c.15399T>A p.C5133* Nonsense 49/55 - 3
12-49420351-C-G c.15398G>C p.C5133S Missense 49/55 - 1
12-49420351-C-T c.15398G>A p.C5133Y Missense 49/55 - 1
12-49420352-A-G c.15397T>C p.C5133R Missense 49/55 - 1
12-49420350-ACACAG-A c.15394_15398del p.L5132Sfs*4 Frameshift 49/55 - 1
12-49420358-T-C c.15391A>G p.M5131V Missense 49/55 - 1
12-49420362-C-A c.15387G>T p.K5129N Missense 49/55 - 2
12-49420362-C-G c.15387G>C p.K5129N Missense 49/55 - 3
12-49420363-CTT-C c.15385_15386del p.K5129Dfs*8 Frameshift 49/55 - 1
12-49420369-T-C c.15380A>G p.K5127R Missense 49/55 - 1
12-49420374-G-A c.15375C>T p.F5125= Synonymous 49/55 - 1
12-49420374-G-C c.15375C>G p.F5125L Missense 49/55 - 3
12-49420374-G-GA c.15374dup p.F5126Lfs*12 Frameshift 49/55 - 1
12-49420374-G-T c.15375C>A p.F5125L Missense 49/55 - 4
12-49420376-A-G c.15373T>C p.F5125L Missense 49/55 - 3
12-49420377-C-A c.15372G>T p.M5124I Missense 49/55 - 1
12-49420377-C-G c.15372G>C p.M5124I Missense 49/55 - 1
12-49420377-C-T c.15372G>A p.M5124I Missense 49/55 - 2
12-49420375-AACATGC-A c.15368_15373del p.C5123_M5124del InFrameDeletion 49/55 - 2
12-49420377-C-CA c.15371dup p.M5124Ifs*14 Frameshift 49/55 - 2
12-49420378-A-G c.15371T>C p.M5124T Missense 49/55 - 1
12-49420387-G-A c.15362C>T p.A5121V Missense 49/55 - 1
12-49420387-G-C c.15362C>G p.A5121G Missense 49/55 - 1
12-49420388-C-A c.15361G>T p.A5121S Missense 49/55 - 2
12-49420388-C-G c.15361G>C p.A5121P Missense 49/55 - 1
12-49420390-C-T c.15359G>A p.R5120H Missense 49/55 - 4
12-49420391-G-A c.15358C>T p.R5120C Missense 49/55 - 5
12-49420394-T-C c.15355A>G p.I5119V Missense 49/55 - 1
12-49420396-G-A c.15353C>T p.A5118V Missense 49/55 - 2
12-49420399-C-T c.15350G>A p.C5117Y Missense 49/55 - 2
12-49420400-A-C c.15349T>G p.C5117G Missense 49/55 - 1
12-49420400-A-G c.15349T>C p.C5117R Missense 49/55 - 1
12-49420401-A-G c.15348T>C p.A5116= Synonymous 49/55 - 1
12-49420408-AT-A c.15341del p.H5114Lfs*33 Frameshift 49/55 - 1
12-49420408-T-C c.15341A>G p.H5114R Missense 49/55 - 8
12-49420408-T-G c.15341A>C p.H5114P Missense 49/55 - 2
12-49420409-G-A c.15340C>T p.H5114Y Missense 49/55 - 6
12-49420410-G-C c.15339C>G p.Y5113* Nonsense 49/55 - 1
12-49420411-T-C c.15338A>G p.Y5113C Missense 49/55 - 2
12-49420417-T-C c.15332A>G p.N5111S Missense 49/55 - 1
12-49420418-T-C c.15331A>G p.N5111D Missense 49/55 - 2
12-49420419-TGGGG-T c.15327_15330del p.C5109* Frameshift 49/55 - 1
12-49420422-G-C c.15327C>G p.C5109W Missense 49/55 - 1
12-49420423-C-A c.15326G>T p.C5109F Missense 49/55 - 10
12-49420423-C-T c.15326G>A p.C5109Y Missense 49/55 - 1
12-49420424-A-C c.15325T>G p.C5109G Missense 49/55 - 1
12-49420424-A-G c.15325T>C p.C5109R Missense 49/55 - 3
12-49420426-C-T c.15323G>A p.R5108H Missense 49/55 - 8
12-49420427-G-A c.15322C>T p.R5108C Missense 49/55 - 5
12-49420430-T-A c.15319A>T p.M5107L Missense 49/55 - 1
12-49420431-GCG-CCA c.15316_15318delinsTGG p.R5106W Missense 49/55 - 1
12-49420432-C-T c.15317G>A p.R5106H Missense 49/55 - 6
12-49420433-G-A c.15316C>T p.R5106C Missense 49/55 - 5
12-49420435-T-C c.15314A>G p.N5105S Missense 49/55 - 3
12-49420437-G-T c.15312C>A p.C5104* Nonsense 49/55 - 1
12-49420438-C-T c.15311G>A p.C5104Y Missense 49/55 - 6
12-49420439-A-G c.15310T>C p.C5104R Missense 49/55 - 2
12-49420439-A-T c.15310T>A p.C5104S Missense 49/55 - 1
12-49420445-T-C c.15304A>G p.S5102G Missense 49/55 - 1
12-49420448-T-C c.15301A>G p.T5101A Missense 49/55 - 1
12-49420450-G-A c.15299C>T p.A5100V Missense 49/55 - 1
12-49420451-C-T c.15298G>A p.A5100T Missense 49/55 - 1
12-49420453-C-A c.15296G>T p.G5099V Missense 49/55 - 2
12-49420453-C-T c.15296G>A p.G5099D Missense 49/55 - 4
12-49420457-T-G c.15292A>C p.T5098P Missense 49/55 - 3
12-49420459-C-T c.15290G>A p.R5097Q Missense 49/55 - 6
12-49420460-G-A c.15289C>T p.R5097* Nonsense 49/55 - 12
12-49420462-CT-C c.15287del p.Q5096Rfs*51 Frameshift 49/55 - 1
12-49420462-T-A c.15287A>T p.Q5096L Missense 49/55 - 1
12-49420463-G-A c.15286C>T p.Q5096* Nonsense 49/55 - 4
12-49420468-A-T c.15281T>A p.L5094Q Missense 49/55 - 1
12-49420469-G-T c.15280C>A p.L5094M Missense 49/55 - 2
12-49420470-G-A c.15279C>T p.S5093= Synonymous 49/55 - 1
12-49420470-G-C c.15279C>G p.S5093= Synonymous 49/55 - 1
12-49420470-G-T c.15279C>A p.S5093= Synonymous 49/55 - 1
12-49420471-G-A c.15278C>T p.S5093F Missense 49/55 - 3
12-49420473-G-A c.15276C>T p.C5092= Synonymous 49/55 - 1
12-49420473-G-T c.15276C>A p.C5092* Nonsense 49/55 - 1
12-49420474-C-A c.15275G>T p.C5092F Missense 49/55 - 3
12-49420474-C-T c.15275G>A p.C5092Y Missense 49/55 - 6
12-49420475-A-G c.15274T>C p.C5092R Missense 49/55 - 1
12-49420477-T-C c.15272A>G p.K5091R Missense 49/55 - 2
12-49420478-T-TG c.15270dup p.K5091Qfs*47 Frameshift 49/55 - 1
12-49420483-A-G c.15266T>C p.L5089P Missense 49/55 - 1
12-49420490-C-G c.15259G>C p.G5087R Missense 49/55 - 2
12-49420490-C-T c.15259G>A p.G5087R Missense 49/55 - 1
12-49420492-C-A c.15257G>T p.R5086L Missense 49/55 - 1
12-49420492-C-T c.15257G>A p.R5086Q Missense 49/55 - 9
12-49420493-G-A c.15256C>T p.R5086* Nonsense 49/55 - 16
12-49420496-G-A c.15253C>T p.H5085Y Missense 49/55 - 2
12-49420496-G-C c.15253C>G p.H5085D Missense 49/55 - 1
12-49420498-A-C c.15251T>G p.L5084R Missense 49/55 - 2
12-49420498-A-G c.15251T>C p.L5084P Missense 49/55 - 1
12-49420499-G-A c.15250C>T p.L5084= Synonymous 49/55 - 1
12-49420501-G-A c.15248C>T p.A5083V Missense 49/55 - 1
12-49420504-A-C c.15245T>G p.V5082G Missense 49/55 - 3
12-49420505-C-T c.15244G>A p.V5082I Missense 49/55 - 2
12-49420506-C-A c.15243G>T p.E5081D Missense 49/55 - 1
12-49420512-A-G c.15237T>C p.N5079= Synonymous 49/55 - 1
12-49420510-ACATT-A c.15235_15238del p.N5079Wfs*10 Frameshift 49/55 - 3
12-49420514-T-TA c.15234_15235insT p.N5079* Nonsense 49/55 - 3
12-49420515-C-A c.15234G>T p.M5078I Missense 49/55 - 1
12-49420515-C-G c.15234G>C p.M5078I Missense 49/55 - 1
12-49420515-C-T c.15234G>A p.M5078I Missense 49/55 - 1
12-49420519-A-C c.15230T>G p.L5077R Missense 49/55 - 1
12-49420519-A-G c.15230T>C p.L5077P Missense 49/55 - 2
12-49420522-TG-T c.15227del p.A5076Dfs*2 Frameshift 49/55 - 1
12-49420524-C-G c.15225G>C p.G5075= Synonymous 49/55 - 1
12-49420525-C-A c.15224G>T p.G5075V Missense 49/55 - 2
12-49420525-C-T c.15224G>A p.G5075E Missense 49/55 - 1
12-49420522-GC-G c.15226del p.A5076Hfs*2 Frameshift 49/55 - 2
12-49420526-C-G c.15223G>C p.G5075R Missense 49/55 - 4
12-49420526-C-T c.15223G>A p.G5075R Missense 49/55 - 7
12-49420529-C-A c.15220G>T p.G5074C Missense 49/55 - 2
12-49420530-C-A c.15219G>T p.Q5073H Missense 49/55 - 1
12-49420530-C-G c.15219G>C p.Q5073H Missense 49/55 - 1
12-49420532-G-A c.15217C>T p.Q5073* Nonsense 49/55 - 3
12-49420538-C-G c.15211G>C p.E5071Q Missense 49/55 - 2
12-49420539-A-C c.15210T>G p.Y5070* Nonsense 49/55 - 1
12-49420539-A-T c.15210T>A p.Y5070* Nonsense 49/55 - 2
12-49420540-T-C c.15209A>G p.Y5070C Missense 49/55 - 1
12-49420540-T-TAA c.15208_15209insTT p.Y5070Ffs*9 Frameshift 49/55 - 1
12-49420541-A-C c.15208T>G p.Y5070D Missense 49/55 - 1
12-49420542-C-A c.15207G>T p.V5069= Synonymous 49/55 - 1
12-49420542-C-G c.15207G>C p.V5069= Synonymous 49/55 - 1
12-49420542-C-T c.15207G>A p.V5069= Synonymous 49/55 - 1
12-49420543-A-G c.15206T>C p.V5069A Missense 49/55 - 1
12-49420543-A-T c.15206T>A p.V5069E Missense 49/55 - 1
12-49420545-C-A c.15204G>T p.E5068D Missense 49/55 - 1
12-49420545-C-G c.15204G>C p.E5068D Missense 49/55 - 1
12-49420545-C-T c.15204G>A p.E5068= Synonymous 49/55 - 1
12-49420547-C-T c.15202G>A p.E5068K Missense 49/55 - 6
12-49420548-C-A c.15201G>T p.T5067= Synonymous 49/55 - 1
12-49420548-C-G c.15201G>C p.T5067= Synonymous 49/55 - 1
12-49420548-C-T c.15201G>A p.T5067= Synonymous 49/55 - 1
12-49420549-G-A c.15200C>T p.T5067M Missense 49/55 - 7
12-49420552-G-A c.15197C>T p.S5066F Missense 49/55 - 1
12-49420554-C-T c.15195G>A p.W5065* Nonsense 49/55 - 2
12-49420555-C-T c.15194G>A p.W5065* Nonsense 49/55 - 1
12-49420553-ACCAAAGGGCACAGTTGAGGTGCAC-A c.15172_15195del p.V5058_W5065del InFrameDeletion 49/55 - 1
12-49420557-A-C c.15192T>G p.L5064= Synonymous 49/55 - 1
12-49420557-A-G c.15192T>C p.L5064= Synonymous 49/55 - 1
12-49420558-A-G c.15191T>C p.L5064P Missense 49/55 - 1
12-49420561-G-A c.15188C>T p.A5063V Missense 49/55 - 2
12-49420562-C-T c.15187G>A p.A5063T Missense 49/55 - 1
12-49420563-A-T c.15186T>A p.C5062* Nonsense 49/55 - 2
12-49420561-GCA-G c.15186_15187del p.A5063Pfs*8 Frameshift 49/55 - 1
12-49420564-C-A c.15185G>T p.C5062F Missense 49/55 - 4
12-49420564-C-T c.15185G>A p.C5062Y Missense 49/55 - 3
12-49420565-A-G c.15184T>C p.C5062R Missense 49/55 - 1
12-49420567-T-C c.15182A>G p.N5061S Missense 49/55 - 2
12-49420573-T-C c.15176A>G p.H5059R Missense 49/55 - 1
12-49420573-T-G c.15176A>C p.H5059P Missense 49/55 - 3
12-49420577-C-T c.15172G>A p.V5058M Missense 49/55 - 2
12-49420578-C-T c.15171G>A p.W5057* Nonsense 49/55 - 1
12-49420579-C-T c.15170G>A p.W5057* Nonsense 49/55 - 2
12-49420580-A-G c.15169T>C p.W5057R Missense 49/55 - 1
12-49420580-A-T c.15169T>A p.W5057R Missense 49/55 - 1
12-49420582-A-G c.15167T>C p.L5056P Missense 49/55 - 1
12-49420584-G-A c.15165C>T p.D5055= Synonymous 49/55 - 1
12-49420591-T-C c.15158A>G p.D5053G Missense 49/55 - 1
12-49420580-ACAGGTC-A c.15163_15168del p.D5055_L5056del InFrameDeletion 49/55 - 1
12-49420598-T-C c.15151A>G p.N5051D Missense 49/55 - 2
12-49420600-A-C c.15149T>G p.L5050R Missense 49/55 - 3
12-49420600-A-G c.15149T>C p.L5050P Missense 49/55 - 1
12-49420606-C-A c.15143G>T p.R5048L Missense 49/55 - 1
12-49420606-C-T c.15143G>A p.R5048H Missense 49/55 - 25
12-49420607-G-A c.15142C>T p.R5048C Missense 49/55 - 15
12-49420607-G-C c.15142C>G p.R5048G Missense 49/55 - 1
12-49420608-G-A c.15141C>T p.A5047= Synonymous 49/55 - 1
12-49420608-G-C c.15141C>G p.A5047= Synonymous 49/55 - 1
12-49420608-G-T c.15141C>A p.A5047= Synonymous 49/55 - 1
12-49420609-G-A c.15140C>T p.A5047V Missense 49/55 - 3
12-49420610-C-G c.15139G>C p.A5047P Missense 49/55 - 2
12-49420613-G-A c.15136C>T p.P5046S Missense 49/55 - 1
12-49420614-C-A c.15135G>T p.G5045= Synonymous 49/55 - 1
12-49420614-C-G c.15135G>C p.G5045= Synonymous 49/55 - 1
12-49420614-C-T c.15135G>A p.G5045= Synonymous 49/55 - 1
12-49420615-C-A c.15134G>T p.G5045V Missense 49/55 - 1
12-49420616-C-A c.15133G>T p.G5045W Missense 49/55 - 1
12-49420619-C-T c.15130G>A p.D5044N Missense 49/55 - 7
12-49420621-G-A c.15128C>T p.T5043I Missense 49/55 - 1
12-49420622-GT-G c.15127del p.T5043Lfs*8 Frameshift 49/55 - 1
12-49420622-T-C c.15127A>G p.T5043A Missense 49/55 - 1
12-49420625-C-A c.15124G>T p.A5042S Missense 49/55 - 1
12-49420625-C-T c.15124G>A p.A5042T Missense 49/55 - 1
12-49420628-C-G c.15121G>C p.G5041R Missense 49/55 - 6
12-49420628-C-T c.15121G>A p.G5041R Missense 49/55 - 7
12-49420629-G-A c.15120C>T p.D5040= Synonymous 49/55 - 3
12-49420627-CCGTCACCCTCCTCATGACAGAAACAGCAGCGACGCATGTCT-C c.15081_15121del p.D5028Gfs*3 Frameshift 49/55 - 1
12-49420630-T-C c.15119A>G p.D5040G Missense 49/55 - 3
12-49420631-C-A c.15118G>T p.D5040Y Missense 49/55 - 2
12-49420631-C-T c.15118G>A p.D5040N Missense 49/55 - 1
12-49420633-C-A c.15116G>T p.G5039V Missense 49/55 - 1
12-49420637-C-A c.15112G>T p.E5038* Nonsense 49/55 - 1
12-49420637-C-T c.15112G>A p.E5038K Missense 49/55 - 1
12-49420633-CCCT-C c.15113_15115del p.E5038del InFrameDeletion 49/55 - 4
12-49420638-CTCA-C c.15108_15110del p.H5036_E5037delinsQ MultiAAMissense 49/55 - 3
12-49420640-C-A c.15109G>T p.E5037* Nonsense 49/55 - 1
12-49420641-A-C c.15108T>G p.H5036Q Missense 49/55 - 1
12-49420645-C-A c.15104G>T p.C5035F Missense 49/55 - 1
12-49420645-C-G c.15104G>C p.C5035S Missense 49/55 - 1
12-49420645-C-T c.15104G>A p.C5035Y Missense 49/55 - 1
12-49420646-A-G c.15103T>C p.C5035R Missense 49/55 - 1
12-49420647-G-A c.15102C>T p.F5034= Synonymous 49/55 - 1
12-49420648-A-G c.15101T>C p.F5034S Missense 49/55 - 1
12-49420649-A-C c.15100T>G p.F5034V Missense 49/55 - 3
12-49420649-AAC-A c.15098_15099del p.C5033Ffs*4 Frameshift 49/55 - 1
12-49420651-C-T c.15098G>A p.C5033Y Missense 49/55 - 1
12-49420654-C-A c.15095G>T p.C5032F Missense 49/55 - 3
12-49420650-ACAG-A c.15096_15098del p.C5033del InFrameDeletion 49/55 - 1
12-49420655-A-T c.15094T>A p.C5032S Missense 49/55 - 1
12-49420657-C-T c.15092G>A p.R5031H Missense 49/55 - 2
12-49420658-G-A c.15091C>T p.R5031C Missense 49/55 - 2
12-49420658-G-T c.15091C>A p.R5031S Missense 49/55 - 1
12-49420659-A-C c.15090T>G p.R5030= Synonymous 49/55 - 1
12-49420660-C-T c.15089G>A p.R5030H Missense 49/55 - 8
12-49420661-G-A c.15088C>T p.R5030C Missense 49/55 - 21
12-49420663-A-C c.15086T>G p.M5029R Missense 49/55 - 1
12-49420663-A-G c.15086T>C p.M5029T Missense 49/55 - 1
12-49420664-AT-A c.15085del p.M5029Cfs*22 Frameshift 49/55 - 1
12-49420664-T-G c.15085A>C p.M5029L Missense 49/55 - 5
12-49420665-G-C c.15084C>G p.D5028E Missense 49/55 - 3
12-49420665-G-T c.15084C>A p.D5028E Missense 49/55 - 1
12-49420667-C-A c.15082G>T p.D5028Y Missense 49/55 - 3
12-49420669-C-T c.15080G>A p.R5027Q Missense 49/55 - 6
12-49420669-TC-T c.15080del p.R5027Qfs*24 Frameshift 49/55 - 1
12-49420670-G-A c.15079C>T p.R5027* Nonsense 49/55 - 26
12-49420670-G-C c.15079C>G p.R5027G Missense 49/55 - 1
12-49420672-G-A c.15077C>T p.P5026L Missense 49/55 - 6
12-49420672-G-T c.15077C>A p.P5026Q Missense 49/55 - 1
12-49420675-A-C c.15074T>G p.V5025G Missense 49/55 - 1
12-49420677-C-G c.15072G>C p.K5024N Missense 49/55 - 1
12-49420678-T-C c.15071A>G p.K5024R Missense 49/55 - 3
12-49420680-G-C c.15069C>G p.D5023E Missense 49/55 - 1
12-49420682-C-T c.15067G>A p.D5023N Missense 49/55 - 4
12-49420684-G-C c.15065C>G p.P5022R Missense 49/55 - 2
12-49420687-C-A c.15062G>T p.R5021L Missense 49/55 - 1
12-49420687-C-T c.15062G>A p.R5021Q Missense 49/55 - 2
12-49420688-G-A c.15061C>T p.R5021* Nonsense 49/55 - 22
12-49420689-CA-C c.15059del p.L5020Cfs*31 Frameshift 49/55 - 1
12-49420693-G-A c.15056C>T p.A5019V Missense 49/55 - 1
12-49420693-G-C c.15056C>G p.A5019G Missense 49/55 - 2
12-49420694-C-T c.15055G>A p.A5019T Missense 49/55 - 1
12-49420696-G-A c.15053C>T p.T5018I Missense 49/55 - 5
12-49420696-G-C c.15053C>G p.T5018R Missense 49/55 - 2
12-49420697-T-C c.15052A>G p.T5018A Missense 49/55 - 2
12-49420698-G-A c.15051C>T p.G5017= Synonymous 49/55 - 1
12-49420698-G-GC c.15050dup p.T5018Hfs*6 Frameshift 49/55 - 1
12-49420703-G-A c.15046C>T p.L5016F Missense 49/55 - 1
12-49420704-C-T c.15045G>A p.Q5015= Synonymous 49/55 - 1
12-49420707-C-G c.15042G>C p.E5014D Missense 49/55 - 1
12-49420709-C-A c.15040G>T p.E5014* Nonsense 49/55 - 1
12-49420717-T-G c.15032A>C p.E5011A Missense 49/55 - 1
12-49420718-C-G c.15031G>C p.E5011Q Missense 49/55 - 2
12-49420718-TC-T c.15031del p.E5011Sfs*40 Frameshift 49/55 - 1
12-49420718-C-CT c.15030dup p.E5011Rfs*13 Frameshift 49/55 - 2
12-49420720-G-A c.15029C>T p.A5010V Missense 49/55 - 2
12-49420721-C-T c.15028G>A p.A5010T Missense 49/55 - 4
12-49420724-CT-C c.15024del p.V5009Wfs*42 Frameshift 49/55 - 1
12-49420726-T-C c.15023A>G p.E5008G Missense 49/55 - 1
12-49420727-C-A c.15022G>T p.E5008* Nonsense 49/55 - 2
12-49420727-C-T c.15022G>A p.E5008K Missense 49/55 - 1
12-49420729-C-A c.15020G>T p.R5007L Missense 49/55 - 1
12-49420729-C-T c.15020G>A p.R5007Q Missense 49/55 - 1
12-49420730-G-A c.15019C>T p.R5007W Missense 49/55 - 7
12-49420732-T-A c.15017A>T p.E5006V Missense 49/55 - 1
12-49420733-C-A c.15016G>T p.E5006* Nonsense 49/55 - 3
12-49420733-C-T c.15016G>A p.E5006K Missense 49/55 - 2
12-49420737-C-A c.15012G>T p.E5004D Missense 49/55 - 1
12-49420737-C-G c.15012G>C p.E5004D Missense 49/55 - 1
12-49420738-T-A c.15011A>T p.E5004V Missense 49/55 - 1
12-49420739-C-A c.15010G>T p.E5004* Nonsense 49/55 - 2
12-49420739-C-T c.15010G>A p.E5004K Missense 49/55 - 1
12-49420742-G-A c.15007C>T p.Q5003* Nonsense 49/55 - 2
12-49420743-CC-AT c.15005_15006delinsAT p.R5002H Missense 49/55 - 1
12-49420742-GC-G c.15006del p.Q5003Rfs*48 Frameshift 49/55 - 1
12-49420744-C-T c.15005G>A p.R5002Q Missense 49/55 - 3
12-49420745-G-A c.15004C>T p.R5002W Missense 49/55 - 4
12-49420756-T-C c.14993A>G p.K4998R Missense 49/55 - 1
12-49420755-CT-C c.14993del p.K4998Rfs*53 Frameshift 49/55 - 1
12-49420757-T-C c.14992A>G p.K4998E Missense 49/55 - 2
12-49420758-C-A c.14991G>T p.Q4997H Missense 49/55 - 1
12-49420761-G-C c.14988C>G p.I4996M Missense 49/55 - 1
12-49420758-CTGGA-C c.14987_14990del p.I4996Rfs*54 Frameshift 49/55 - 1
12-49420763-T-C c.14986A>G p.I4996V Missense 49/55 - 1
12-49420765-G-C c.14984C>G p.T4995S Missense 49/55 - 2
12-49420767-C-A c.14982G>T p.L4994= Synonymous 49/55 - 2
12-49420767-C-G c.14982G>C p.L4994= Synonymous 49/55 - 1
12-49420767-C-T c.14982G>A p.L4994= Synonymous 49/55 - 1
12-49420769-G-A c.14980C>T p.L4994= Synonymous 49/55 - 1
12-49420768-A-C c.14981T>G p.L4994R Missense 49/55 - 1
12-49420769-G-C c.14980C>G p.L4994V Missense 49/55 - 2
12-49420771-A-T c.14978T>A p.L4993Q Missense 49/55 - 1
12-49420773-C-A c.14976G>T p.L4992= Synonymous 49/55 - 1
12-49420773-C-G c.14976G>C p.L4992= Synonymous 49/55 - 1
12-49420773-C-T c.14976G>A p.L4992= Synonymous 49/55 - 1
12-49420775-G-A c.14974C>T p.L4992= Synonymous 49/55 - 1
12-49420774-CA-C c.14975del p.L4992Rfs*3 Frameshift 49/55 - 1
12-49420775-G-C c.14974C>G p.L4992V Missense 49/55 - 2
12-49420775-G-T c.14974C>A p.L4992M Missense 49/55 - 2
12-49420777-C-T c.14972G>A p.R4991Q Missense 49/55 - 4
12-49420775-GCCGAAGCCGCTTCCAGCGCACT-G c.14952_14973del p.V4985Cfs*3 Frameshift 49/55 - 1
12-49420778-G-A c.14971C>T p.R4991W Missense 49/55 - 3
12-49420781-G-A c.14968C>T p.L4990F Missense 49/55 - 1
12-49420783-C-T c.14966G>A p.R4989Q Missense 49/55 - 1
12-49420784-G-A c.14965C>T p.R4989W Missense 49/55 - 1
12-49420787-T-A c.14962A>T p.K4988* Nonsense 49/55 - 1
12-49420788-C-T c.14961G>A p.W4987* Nonsense 49/55 - 4
12-49420789-C-A c.14960G>T p.W4987L Missense 49/55 - 1
12-49420789-C-T c.14960G>A p.W4987* Nonsense 49/55 - 5
12-49420792-C-A c.14957G>T p.R4986L Missense 49/55 - 1
12-49420792-C-T c.14957G>A p.R4986H Missense 49/55 - 3
12-49420793-G-A c.14956C>T p.R4986C Missense 49/55 - 6
12-49420796-C-G c.14953G>C p.V4985L Missense 49/55 - 2
12-49420796-C-T c.14953G>A p.V4985M Missense 49/55 - 2
12-49420799-C-CT c.14949dup p.G4984Rfs*23 Frameshift 49/55 - 1
12-49420803-C-A c.14946G>T p.W4982C Missense 49/55 - 1
12-49420803-C-G c.14946G>C p.W4982C Missense 49/55 - 1
12-49420803-C-T c.14946G>A p.W4982* Nonsense 49/55 - 7
12-49420804-C-T c.14945G>A p.W4982* Nonsense 49/55 - 4
12-49420808-T-C c.14941A>G p.K4981E Missense 49/55 - 1
12-49420809-C-A c.14940G>T p.K4980N Missense 49/55 - 3
12-49420809-C-G c.14940G>C p.K4980N Missense 49/55 - 4
12-49420811-T-A c.14938A>T p.K4980* Nonsense 49/55 - 2
12-49420814-G-A c.14935C>T p.L4979F Missense 49/55 - 1
12-49420815-G-A c.14934C>T p.R4978= Synonymous 49/55 - 1
12-49420815-G-C c.14934C>G p.R4978= Synonymous 49/55 - 1
12-49420815-G-T c.14934C>A p.R4978= Synonymous 49/55 - 1
12-49420816-C-T c.14933G>A p.R4978H Missense 49/55 - 1
12-49420817-G-A c.14932C>T p.R4978C Missense 49/55 - 4
12-49420817-G-C c.14932C>G p.R4978G Missense 49/55 - 1
12-49420819-G-A c.14930C>T p.P4977L Missense 49/55 - 1
12-49420820-G-A c.14929C>T p.P4977S Missense 49/55 - 2
12-49420822-G-A c.14927C>T p.P4976L Missense 49/55 - 1
12-49420822-G-C c.14927C>G p.P4976R Missense 49/55 - 1
12-49420823-G-A c.14926C>T p.P4976S Missense 49/55 - 1
12-49420825-C-T c.14924G>A p.R4975H Missense 49/55 - 2
12-49420826-G-A c.14923C>T p.R4975C Missense 49/55 - 4
12-49420827-G-A c.14922C>T p.S4974= Synonymous 49/55 - 2
12-49420827-G-C c.14922C>G p.S4974= Synonymous 49/55 - 1
12-49420827-G-T c.14922C>A p.S4974= Synonymous 49/55 - 1
12-49420828-G-A c.14921C>T p.S4974F Missense 49/55 - 1
12-49420832-C-G c.14917G>C p.D4973H Missense 49/55 - 5
12-49420835-C-A c.14914G>T p.E4972* Nonsense 49/55 - 1
12-49420837-C-A c.14912G>T p.G4971V Missense 49/55 - 2
12-49420837-C-T c.14912G>A p.G4971D Missense 49/55 - 2
12-49420841-C-A c.14908G>T p.E4970* Nonsense 49/55 - 2
12-49420841-C-T c.14908G>A p.E4970K Missense 49/55 - 2
12-49420843-T-G c.14906A>C p.E4969A Missense 49/55 - 1
12-49420844-C-A c.14905G>T p.E4969* Nonsense 49/55 - 5
12-49420844-C-T c.14905G>A p.E4969K Missense 49/55 - 2
12-49420846-G-A c.14903C>T p.P4968L Missense 49/55 - 1
12-49420847-G-A c.14902C>T p.P4968S Missense 49/55 - 1
12-49420847-G-T c.14902C>A p.P4968T Missense 49/55 - 1
12-49420850-G-A c.14899C>T p.P4967S Missense 49/55 - 1
12-49420852-C-T c.14897G>A p.R4966Q Missense 49/55 - 4
12-49420853-G-A c.14896C>T p.R4966W Missense 49/55 - 4
12-49420855-G-A c.14894C>T p.A4965V Missense 49/55 - 2
12-49420856-C-T c.14893G>A p.A4965T Missense 49/55 - 6
12-49420858-C-T c.14891G>A p.R4964H Missense 49/55 - 6
12-49420859-G-A c.14890C>T p.R4964C Missense 49/55 - 7
12-49420859-G-T c.14890C>A p.R4964S Missense 49/55 - 1
12-49420861-G-A c.14888C>T p.P4963L Missense 49/55 - 3
12-49420862-G-A c.14887C>T p.P4963S Missense 49/55 - 1
12-49420863-C-A c.14886G>T p.K4962N Missense 49/55 - 1
12-49420859-GGGGCTTGGGTC-G c.14879_14889del p.R4960Pfs*6 Frameshift 49/55 - 1
12-49420865-T-G c.14884A>C p.K4962Q Missense 49/55 - 1
12-49420867-G-T c.14882C>A p.P4961H Missense 49/55 - 1
12-49420870-C-A c.14879G>T p.R4960L Missense 49/55 - 1
12-49420870-C-T c.14879G>A p.R4960Q Missense 49/55 - 2
12-49420869-T-A c.14880A>T p.R4960= Synonymous 49/55 - 1
12-49420869-T-C c.14880A>G p.R4960= Synonymous 49/55 - 1
12-49420869-T-G c.14880A>C p.R4960= Synonymous 49/55 - 1
12-49420871-G-A c.14878C>T p.R4960* Nonsense 49/55 - 18
12-49420871-G-T c.14878C>A p.R4960= Synonymous 49/55 - 1
12-49420872-G-A c.14877C>T p.A4959= Synonymous 49/55 - 4
12-49420872-G-C c.14877C>G p.A4959= Synonymous 49/55 - 4
12-49420872-G-T c.14877C>A p.A4959= Synonymous 49/55 - 4
12-49420873-G-A c.14876C>T p.A4959V Missense 49/55 - 1
12-49420876-G-C c.14873C>G p.S4958* Nonsense 49/55 - 1
12-49420876-G-T c.14873C>A p.S4958* Nonsense 49/55 - 1
12-49420883-G-A c.14866C>T p.P4956S Missense 49/55 - 2
12-49420883-G-T c.14866C>A p.P4956T Missense 49/55 - 1
12-49420885-G-A c.14864C>T p.S4955F Missense 49/55 - 4
12-49420885-G-T c.14864C>A p.S4955Y Missense 49/55 - 1
12-49420888-G-A c.14861C>T p.S4954L Missense 49/55 - 1
12-49420889-A-ATGCAAGAGGAAGAGGGCTAGGTACAGGAGGCTCTGCAAGAGGCTCTGTAGGAAGCTCTACAAGAGGCTCTGTAGGAGGGCTTGCAGGGCTAGG c.14859_14860insCCTAGCCCTGCAAGCCCTCCTACAGAGCCTCTTGTAGAGCTTCCTACAGAGCCTCTTGCAGAGCCTCCTGTACCTAGCCCTCTTCCTCTTGCA p.P4923_A4953dup InFrameInsertion 49/55 - 1
12-49420891-G-A c.14858C>T p.A4953V Missense 49/55 - 1
12-49420892-C-A c.14857G>T p.A4953S Missense 49/55 - 2
12-49420892-C-T c.14857G>A p.A4953T Missense 49/55 - 1
12-49420895-G-C c.14854C>G p.L4952V Missense 49/55 - 1
12-49420900-A-T c.14849T>A p.L4950Q Missense 49/55 - 1
12-49420901-G-C c.14848C>G p.L4950V Missense 49/55 - 2
12-49420902-A-C c.14847T>G p.P4949= Synonymous 49/55 - 1
12-49420902-A-G c.14847T>C p.P4949= Synonymous 49/55 - 1
12-49420902-A-T c.14847T>A p.P4949= Synonymous 49/55 - 1
12-49420904-G-T c.14845C>A p.P4949T Missense 49/55 - 1
12-49420906-G-C c.14843C>G p.S4948* Nonsense 49/55 - 2
12-49420907-GA-G c.14842del p.S4948Hfs*47 Frameshift 49/55 - 1
12-49420909-G-A c.14840C>T p.P4947L Missense 49/55 - 1
12-49420909-G-T c.14840C>A p.P4947H Missense 49/55 - 3
12-49420910-G-A c.14839C>T p.P4947S Missense 49/55 - 2
12-49420911-G-A c.14838C>T p.V4946= Synonymous 49/55 - 1
12-49420913-C-T c.14836G>A p.V4946I Missense 49/55 - 2
12-49420912-ACGGGTGG-A c.14830_14836del p.P4944Sfs*49 Frameshift 49/55 - 1
12-49420916-G-TT c.14833delinsAA p.P4945Nfs*13 Frameshift 49/55 - 1
12-49420918-G-T c.14831C>A p.P4944Q Missense 49/55 - 1
12-49420919-G-C c.14830C>G p.P4944A Missense 49/55 - 1
12-49420920-C-T c.14829G>A p.E4943= Synonymous 49/55 - 1
12-49420924-G-C c.14825C>G p.A4942G Missense 49/55 - 1
12-49420924-GCC-AACA c.14823_14825delinsTGTT p.L4941Ffs*3 Frameshift 49/55 - 1
12-49420925-C-G c.14824G>C p.A4942P Missense 49/55 - 1
12-49420931-G-C c.14818C>G p.P4940A Missense 49/55 - 1
12-49420934-C-T c.14815G>A p.E4939K Missense 49/55 - 5
12-49420935-G-A c.14814C>T p.T4938= Synonymous 49/55 - 1
12-49420935-G-C c.14814C>G p.T4938= Synonymous 49/55 - 1
12-49420935-G-T c.14814C>A p.T4938= Synonymous 49/55 - 3
12-49420936-G-A c.14813C>T p.T4938I Missense 49/55 - 2
12-49420937-T-C c.14812A>G p.T4938A Missense 49/55 - 1
12-49420939-G-A c.14810C>T p.P4937L Missense 49/55 - 2
12-49420937-TG-T c.14811del p.T4938Pfs*57 Frameshift 49/55 - 2
12-49420940-G-A c.14809C>T p.P4937S Missense 49/55 - 5
12-49420942-A-G c.14807T>C p.L4936P Missense 49/55 - 1
12-49420946-C-A c.14803G>T p.E4935* Nonsense 49/55 - 2
12-49420948-A-G c.14801T>C p.V4934A Missense 49/55 - 1
12-49420949-C-T c.14800G>A p.V4934I Missense 49/55 - 1
12-49420952-A-C c.14797T>G p.L4933V Missense 49/55 - 1
12-49420955-G-A c.14794C>T p.P4932S Missense 49/55 - 1
12-49420955-G-C c.14794C>G p.P4932A Missense 49/55 - 2
12-49420960-AGTAGGGGGACTGG-A c.14777_14789del p.A4926Vfs*65 Frameshift 49/55 - 1
12-49420962-A-T c.14787T>A p.P4929= Synonymous 49/55 - 1
12-49420963-G-A c.14786C>T p.P4929L Missense 49/55 - 1
12-49420964-G-A c.14785C>T p.P4929S Missense 49/55 - 2
12-49420967-G-T c.14782C>A p.P4928T Missense 49/55 - 3
12-49420970-T-C c.14779A>G p.S4927G Missense 49/55 - 1
12-49420970-T-G c.14779A>C p.S4927R Missense 49/55 - 2
12-49420975-G-A c.14774C>T p.P4925L Missense 49/55 - 1
12-49420975-G-T c.14774C>A p.P4925H Missense 49/55 - 1
12-49420974-A-AG c.14774dup p.A4926Cfs*6 Frameshift 49/55 - 1
12-49420976-G-A c.14773C>T p.P4925S Missense 49/55 - 1
12-49420978-G-A c.14771C>T p.S4924F Missense 49/55 - 1
12-49420979-A-G c.14770T>C p.S4924P Missense 49/55 - 1
12-49420982-G-A c.14767C>T p.P4923S Missense 49/55 - 2
12-49420983-T-G c.14766A>C p.A4922= Synonymous 49/55 - 1
12-49420984-G-A c.14765C>T p.A4922V Missense 49/55 - 2
12-49420985-C-A c.14764G>T p.A4922S Missense 49/55 - 1
12-49420986-C-A c.14763G>T p.L4921F Missense 49/55 - 2
12-49420987-A-G c.14762T>C p.L4921S Missense 49/55 - 1
12-49420986-C-CA c.14762dup p.L4921Ffs*11 Frameshift 49/55 - 1
12-49420988-A-C c.14761T>G p.L4921V Missense 49/55 - 1
12-49420990-G-A c.14759C>T p.P4920L Missense 49/55 - 2
12-49420990-G-C c.14759C>G p.P4920R Missense 49/55 - 4
12-49420991-G-A c.14758C>T p.P4920S Missense 49/55 - 2
12-49420991-G-C c.14758C>G p.P4920A Missense 49/55 - 1
12-49420993-G-T c.14756C>A p.S4919Y Missense 49/55 - 1
12-49420995-A-C c.14754T>G p.P4918= Synonymous 49/55 - 1
12-49420995-A-G c.14754T>C p.P4918= Synonymous 49/55 - 1
12-49420996-G-A c.14753C>T p.P4918L Missense 49/55 - 2
12-49420999-G-A c.14750C>T p.P4917L Missense 49/55 - 1
12-49420995-A-AG c.14753dup p.S4919Ffs*13 Frameshift 49/55 - 1
12-49420995-AG-A c.14753del p.P4918Lfs*77 Frameshift 49/55 - 3
12-49421000-G-A c.14749C>T p.P4917S Missense 49/55 - 1
12-49421001-C-A c.14748G>T p.P4916= Synonymous 49/55 - 2
12-49421001-C-G c.14748G>C p.P4916= Synonymous 49/55 - 4
12-49421001-C-T c.14748G>A p.P4916= Synonymous 49/55 - 2
12-49421002-G-A c.14747C>T p.P4916L Missense 49/55 - 4
12-49421002-G-T c.14747C>A p.P4916Q Missense 49/55 - 1
12-49421003-G-A c.14746C>T p.P4916S Missense 49/55 - 1
12-49421005-G-A c.14744C>T p.S4915F Missense 49/55 - 1
12-49421006-A-C c.14743T>G p.S4915A Missense 49/55 - 1
12-49421009-G-A c.14740C>T p.P4914S Missense 49/55 - 7
12-49421010-T-G c.14739A>C p.E4913D Missense 49/55 - 1
12-49421012-C-T c.14737G>A p.E4913K Missense 49/55 - 1
12-49421015-C-G c.14734G>C p.E4912Q Missense 49/55 - 1
12-49421015-C-T c.14734G>A p.E4912K Missense 49/55 - 6
12-49421016-A-T c.14733T>A p.P4911= Synonymous 49/55 - 1
12-49421017-G-A c.14732C>T p.P4911L Missense 49/55 - 4
12-49421018-G-A c.14731C>T p.P4911S Missense 49/55 - 5
12-49421015-CAGG-C c.14731_14733del p.P4911del InFrameDeletion 49/55 - 1
12-49421019-A-T c.14730T>A p.P4910= Synonymous 49/55 - 1
12-49421020-G-A c.14729C>T p.P4910L Missense 49/55 - 3
12-49421021-G-A c.14728C>T p.P4910S Missense 49/55 - 3
12-49421023-G-A c.14726C>T p.P4909L Missense 49/55 - 2
12-49421025-GG-CT c.14723_14724delinsAG p.A4908E Missense 49/55 - 1
12-49421026-G-A c.14723C>T p.A4908V Missense 49/55 - 2
12-49421026-G-T c.14723C>A p.A4908D Missense 49/55 - 1
12-49421027-C-T c.14722G>A p.A4908T Missense 49/55 - 1
12-49421026-GC-G c.14722del p.A4908Pfs*87 Frameshift 49/55 - 1
12-49421028-C-A c.14721G>T p.S4907= Synonymous 49/55 - 1
12-49421028-C-G c.14721G>C p.S4907= Synonymous 49/55 - 1
12-49421028-C-T c.14721G>A p.S4907= Synonymous 49/55 - 1
12-49421029-G-A c.14720C>T p.S4907L Missense 49/55 - 1
12-49421033-G-A c.14716C>T p.L4906F Missense 49/55 - 2
12-49421035-T-C c.14714A>G p.Q4905R Missense 49/55 - 1
12-49421036-G-A c.14713C>T p.Q4905* Nonsense 49/55 - 4
12-49421038-C-T c.14711G>A p.R4904Q Missense 49/55 - 1
12-49421039-G-A c.14710C>T p.R4904* Nonsense 49/55 - 20
12-49421039-G-C c.14710C>G p.R4904G Missense 49/55 - 1
12-49421042-C-T c.14707G>A p.V4903M Missense 49/55 - 2
12-49421045-C-A c.14704G>T p.D4902Y Missense 49/55 - 1
12-49421048-G-C c.14701C>G p.L4901V Missense 49/55 - 5
12-49421048-G-T c.14701C>A p.L4901M Missense 49/55 - 1
12-49421049-GA-G c.14700del p.L4901Wfs*94 Frameshift 49/55 - 1
12-49421050-T-C c.14699A>G p.N4900S Missense 49/55 - 1
12-49421055-AG-A c.14694del p.S4899Pfs*96 Frameshift 49/55 - 1
12-49421059-T-C c.14690A>G p.N4897S Missense 49/55 - 1
12-49421061-G-T c.14688C>A p.Y4896* Nonsense 49/55 - 1
12-49421065-G-A c.14684C>T p.T4895I Missense 49/55 - 1
12-49421068-T-C c.14681A>G p.Y4894C Missense 49/55 - 1
12-49421075-G-A c.14674C>T p.H4892Y Missense 49/55 - 1
12-49421074-TGCTGAGTGGGTGGCTCTGGGGC-T c.14653_14674del p.A4885Tfs*103 Frameshift 49/55 - 1
12-49421076-C-T c.14673G>A p.Q4891= Synonymous 49/55 - 1
12-49421078-G-A c.14671C>T p.Q4891* Nonsense 49/55 - 5
12-49421076-CTGAG-C c.14669_14672del p.T4890Sfs*104 Frameshift 49/55 - 1
12-49421084-G-A c.14665C>T p.P4889S Missense 49/55 - 1
12-49421086-G-A c.14663C>T p.P4888L Missense 49/55 - 1
12-49421087-G-A c.14662C>T p.P4888S Missense 49/55 - 1
12-49421090-C-A c.14659G>T p.E4887* Nonsense 49/55 - 5
12-49421090-C-G c.14659G>C p.E4887Q Missense 49/55 - 5
12-49421096-C-T c.14653G>A p.A4885T Missense 49/55 - 5
12-49421097-G-A c.14652C>T p.P4884= Synonymous 49/55 - 1
12-49421097-G-C c.14652C>G p.P4884= Synonymous 49/55 - 1
12-49421097-G-T c.14652C>A p.P4884= Synonymous 49/55 - 1
12-49421098-G-A c.14651C>T p.P4884L Missense 49/55 - 1
12-49421099-G-A c.14650C>T p.P4884S Missense 49/55 - 2
12-49421103-C-G c.14646G>C p.E4882D Missense 49/55 - 2
12-49421105-C-A c.14644G>T p.E4882* Nonsense 49/55 - 1
12-49421179-G-C c.14644-74C>G - IntronicSNV - 48/54 6
12-49421435-G-A c.14643+151C>T - IntronicSNV - 48/54 1
12-49421574-C-T c.14643+12G>A - IntronicSNV - 48/54 1
12-49421585-C-A c.14643+1G>T - IntronicSNV - 48/54 1
12-49421585-C-T c.14643+1G>A - IntronicSNV - 48/54 1
12-49421586-C-T c.14643G>A p.Q4881= Synonymous 48/55 - 1
12-49421589-T-A c.14640A>T p.K4880N Missense 48/55 - 1
12-49421589-T-G c.14640A>C p.K4880N Missense 48/55 - 1
12-49421590-T-C c.14639A>G p.K4880R Missense 48/55 - 1
12-49421593-A-C c.14636T>G p.L4879R Missense 48/55 - 1
12-49421605-A-G c.14624T>C p.I4875T Missense 48/55 - 1
12-49421606-T-C c.14623A>G p.I4875V Missense 48/55 - 2
12-49421606-T-G c.14623A>C p.I4875L Missense 48/55 - 2
12-49421609-C-G c.14620G>C p.D4874H Missense 48/55 - 2
12-49421613-T-G c.14616A>C p.Q4872H Missense 48/55 - 1
12-49421616-G-C c.14613C>G p.S4871R Missense 48/55 - 9
12-49421616-G-T c.14613C>A p.S4871R Missense 48/55 - 6
12-49421618-T-G c.14611A>C p.S4871R Missense 48/55 - 6
12-49421617-C-A c.14612G>T p.S4871I Missense 48/55 - 1
12-49421623-A-G c.14606T>C p.L4869P Missense 48/55 - 1
12-49421624-G-T c.14605C>A p.L4869M Missense 48/55 - 1
12-49421626-G-A c.14603C>T p.T4868I Missense 48/55 - 1
12-49421626-G-C c.14603C>G p.T4868S Missense 48/55 - 2
12-49421629-T-C c.14600A>G p.Y4867C Missense 48/55 - 5
12-49421632-C-T c.14597G>A p.G4866D Missense 48/55 - 1
12-49421636-G-A c.14593C>T p.P4865S Missense 48/55 - 1
12-49421636-G-T c.14593C>A p.P4865T Missense 48/55 - 1
12-49421636-G-GC c.14592dup p.P4865Afs*48 Frameshift 48/55 - 1
12-49421644-G-A c.14585C>T p.A4862V Missense 48/55 - 2
12-49421645-C-A c.14584G>T p.A4862S Missense 48/55 - 2
12-49421646-CA-C c.14583del p.D4861Efs*9 Frameshift 48/55 - 1
12-49421648-C-T c.14581G>A p.D4861N Missense 48/55 - 3
12-49421648-TC-T c.14581del p.D4861Mfs*9 Frameshift 48/55 - 1
12-49421650-A-G c.14579T>C p.F4860S Missense 48/55 - 2
12-49421651-A-G c.14578T>C p.F4860L Missense 48/55 - 1
12-49421653-T-A c.14576A>T p.Q4859L Missense 48/55 - 1
12-49421653-T-G c.14576A>C p.Q4859P Missense 48/55 - 1
12-49421655-C-A c.14574G>T p.K4858N Missense 48/55 - 1
12-49421655-C-G c.14574G>C p.K4858N Missense 48/55 - 1
12-49421655-C-T c.14574G>A p.K4858= Synonymous 48/55 - 1
12-49421657-T-TGGAC c.14571_14572insGTCC p.K4858Vfs*5 Frameshift 48/55 - 1
12-49421661-C-T c.14568G>A p.W4856* Nonsense 48/55 - 1
12-49421662-C-T c.14567G>A p.W4856* Nonsense 48/55 - 1
12-49421666-C-G c.14563G>C p.D4855H Missense 48/55 - 5
12-49421670-G-GA c.14558_14559insT p.D4855* Nonsense 48/55 - 1
12-49421671-C-G c.14558G>C p.G4853A Missense 48/55 - 1
12-49421674-G-A c.14555C>T p.T4852I Missense 48/55 - 1
12-49421674-G-C c.14555C>G p.T4852S Missense 48/55 - 1
12-49421674-G-GT c.14554dup p.T4852Nfs*4 Frameshift 48/55 - 1
12-49421675-T-C c.14554A>G p.T4852A Missense 48/55 - 3
12-49421680-G-C c.14549C>G p.P4850R Missense 48/55 - 2
12-49421682-G-A c.14547C>T p.S4849= Synonymous 48/55 - 2
12-49421683-C-T c.14546G>A p.S4849N Missense 48/55 - 1
12-49421684-T-C c.14545A>G p.S4849G Missense 48/55 - 2
12-49421684-T-G c.14545A>C p.S4849R Missense 48/55 - 1
12-49421686-T-A c.14543A>T p.K4848M Missense 48/55 - 1
12-49421686-T-C c.14543A>G p.K4848R Missense 48/55 - 1
12-49421687-T-A c.14542A>T p.K4848* Nonsense 48/55 - 1
12-49421689-C-A c.14540G>T p.G4847V Missense 48/55 - 4
12-49421689-C-T c.14540G>A p.G4847D Missense 48/55 - 1
12-49421695-CA-C c.14534del p.L4845Rfs*13 Frameshift 48/55 - 1
12-49421696-G-C c.14533C>G p.L4845V Missense 48/55 - 1
12-49421699-C-CT c.14529_14530insA p.G4844Rfs*12 Frameshift 48/55 - 1
12-49421700-C-A c.14529G>T p.K4843N Missense 48/55 - 1
12-49421702-T-C c.14527A>G p.K4843E Missense 48/55 - 2
12-49421700-C-CT c.14528dup p.L4845Sfs*11 Frameshift 48/55 - 2
12-49421705-C-G c.14524G>C p.E4842Q Missense 48/55 - 1
12-49421710-C-T c.14519G>A p.G4840E Missense 48/55 - 1
12-49421772-G-A c.14515+20C>T - IntronicSNV - 47/54 2
12-49421790-A-C c.14515+2T>G - IntronicSNV - 47/54 1
12-49421791-C-A c.14515+1G>T - IntronicSNV - 47/54 2
12-49421791-C-G c.14515+1G>C - IntronicSNV - 47/54 3
12-49421791-C-T c.14515+1G>A - IntronicSNV - 47/54 1
12-49421792-C-A c.14515G>T p.G4839C Missense 47/55 - 1
12-49421794-G-A c.14513C>T p.P4838L Missense 47/55 - 1
12-49421798-C-T c.14509G>A p.G4837S Missense 47/55 - 1
12-49421801-C-A c.14506G>T p.E4836* Nonsense 47/55 - 2
12-49421801-C-G c.14506G>C p.E4836Q Missense 47/55 - 1
12-49421801-C-T c.14506G>A p.E4836K Missense 47/55 - 1
12-49421803-G-A c.14504C>T p.A4835V Missense 47/55 - 1
12-49421804-C-G c.14503G>C p.A4835P Missense 47/55 - 1
12-49421804-C-T c.14503G>A p.A4835T Missense 47/55 - 1
12-49421805-T-A c.14502A>T p.E4834D Missense 47/55 - 4
12-49421805-T-G c.14502A>C p.E4834D Missense 47/55 - 3
12-49421807-C-T c.14500G>A p.E4834K Missense 47/55 - 1
12-49421808-C-A c.14499G>T p.G4833= Synonymous 47/55 - 1
12-49421808-C-G c.14499G>C p.G4833= Synonymous 47/55 - 1
12-49421808-C-T c.14499G>A p.G4833= Synonymous 47/55 - 1
12-49421809-C-A c.14498G>T p.G4833V Missense 47/55 - 1
12-49421809-CCCCTTCTT-C c.14491_14498del p.K4831Gfs*3 Frameshift 47/55 - 1
12-49421810-C-A c.14497G>T p.G4833W Missense 47/55 - 2
12-49421810-C-G c.14497G>C p.G4833R Missense 47/55 - 1
12-49421806-TC-T c.14500del p.E4834Kfs*24 Frameshift 47/55 - 3
12-49421811-C-A c.14496G>T p.K4832N Missense 47/55 - 4
12-49421811-C-G c.14496G>C p.K4832N Missense 47/55 - 2
12-49421814-CTT-TTAGCTACC c.14491_14493delinsGGTAGCTAA p.K4831delinsGS* MultiAAMissense 47/55 - 1
12-49421815-T-C c.14492A>G p.K4831R Missense 47/55 - 1
12-49421816-T-G c.14491A>C p.K4831Q Missense 47/55 - 1
12-49421817-T-TGA c.14489_14490insTC p.K4831Qfs*28 Frameshift 47/55 - 1
12-49421818-G-A c.14489C>T p.P4830L Missense 47/55 - 1
12-49421821-T-C c.14486A>G p.E4829G Missense 47/55 - 1
12-49421822-C-T c.14485G>A p.E4829K Missense 47/55 - 1
12-49421827-C-A c.14480G>T p.G4827V Missense 47/55 - 1
12-49421827-C-T c.14480G>A p.G4827D Missense 47/55 - 4
12-49421829-T-TCG c.14477_14478insCG p.G4827Efs*32 Frameshift 47/55 - 1
12-49421831-C-T c.14476G>A p.A4826T Missense 47/55 - 1
12-49421833-CG-TT c.14473_14474delinsAA p.R4825K Missense 47/55 - 1
12-49421833-C-T c.14474G>A p.R4825Q Missense 47/55 - 6
12-49421834-G-A c.14473C>T p.R4825W Missense 47/55 - 6
12-49421834-G-C c.14473C>G p.R4825G Missense 47/55 - 1
12-49421833-CG-C c.14473del p.R4825Gfs*33 Frameshift 47/55 - 1
12-49421836-G-T c.14471C>A p.A4824D Missense 47/55 - 1
12-49421837-C-T c.14470G>A p.A4824T Missense 47/55 - 3
12-49421838-G-A c.14469C>T p.P4823= Synonymous 47/55 - 3
12-49421838-G-C c.14469C>G p.P4823= Synonymous 47/55 - 2
12-49421838-G-T c.14469C>A p.P4823= Synonymous 47/55 - 2
12-49421840-G-T c.14467C>A p.P4823T Missense 47/55 - 1
12-49421837-CG-C c.14469del p.A4824Pfs*34 Frameshift 47/55 - 2
12-49421842-C-A c.14465G>T p.S4822I Missense 47/55 - 1
12-49421842-C-G c.14465G>C p.S4822T Missense 47/55 - 2
12-49421845-T-C c.14462A>G p.E4821G Missense 47/55 - 3
12-49421846-C-G c.14461G>C p.E4821Q Missense 47/55 - 1
12-49421849-G-A c.14458C>T p.P4820S Missense 47/55 - 4
12-49421847-TG-T c.14459del p.P4820Qfs*38 Frameshift 47/55 - 2
12-49421850-G-A c.14457C>T p.F4819= Synonymous 47/55 - 1
12-49421850-G-GC c.14456_14457insG p.F4819Lfs*11 Frameshift 47/55 - 1
12-49421853-C-A c.14454G>T p.L4818= Synonymous 47/55 - 1
12-49421853-C-G c.14454G>C p.L4818= Synonymous 47/55 - 1
12-49421853-C-T c.14454G>A p.L4818= Synonymous 47/55 - 1
12-49421855-G-A c.14452C>T p.L4818= Synonymous 47/55 - 1
12-49421855-G-T c.14452C>A p.L4818M Missense 47/55 - 1
12-49421857-A-C c.14450T>G p.V4817G Missense 47/55 - 1
12-49421858-C-T c.14449G>A p.V4817M Missense 47/55 - 5
12-49421861-TCATAGG-T c.14441_14446del p.S4814_E4816delins* MultiAAMissense 47/55 - 1
12-49421863-T-C c.14444A>G p.Y4815C Missense 47/55 - 2
12-49421864-A-C c.14443T>G p.Y4815D Missense 47/55 - 1
12-49421864-AG-A c.14442del p.Y4815Mfs*43 Frameshift 47/55 - 2
12-49421866-G-A c.14441C>T p.S4814F Missense 47/55 - 1
12-49421866-G-C c.14441C>G p.S4814C Missense 47/55 - 1
12-49421869-T-C c.14438A>G p.N4813S Missense 47/55 - 1
12-49421871-G-A c.14436C>T p.P4812= Synonymous 47/55 - 1
12-49421872-G-A c.14435C>T p.P4812L Missense 47/55 - 2
12-49421875-A-T c.14432T>A p.I4811N Missense 47/55 - 1
12-49421878-T-G c.14429A>C p.K4810T Missense 47/55 - 4
12-49421880-C-T c.14427G>A p.M4809I Missense 47/55 - 2
12-49421882-T-A c.14425A>T p.M4809L Missense 47/55 - 1
12-49421882-T-C c.14425A>G p.M4809V Missense 47/55 - 2
12-49421884-C-T c.14423G>A p.S4808N Missense 47/55 - 1
12-49421894-C-A c.14413G>T p.E4805* Nonsense 47/55 - 1
12-49421894-C-T c.14413G>A p.E4805K Missense 47/55 - 7
12-49421896-G-A c.14411C>T p.A4804V Missense 47/55 - 4
12-49421897-C-A c.14410G>T p.A4804S Missense 47/55 - 1
12-49421902-GC-G c.14404del p.A4802Qfs*6 Frameshift 47/55 - 1
12-49421910-CAC-GAT c.14395_14397delinsATC p.V4799I Missense 47/55 - 1
12-49421912-C-T c.14395G>A p.V4799M Missense 47/55 - 3
12-49421919-CAG-AAA c.14386_14388delinsTTT p.L4796F Missense 47/55 - 1
12-49421920-AG-TT c.14386_14387delinsAA p.L4796K Missense 47/55 - 1
12-49421920-AG-A c.14386del p.L4796* Frameshift 47/55 - 1
12-49422033-T-G c.14383-109A>C - IntronicSNV - 46/54 1
12-49422094-A-G c.14383-170T>C - IntronicSNV - 46/54 5
12-49422498-A-G c.14382+113T>C - IntronicSNV - 46/54 1
12-49422568-C-G c.14382+43G>C - IntronicSNV - 46/54 1
12-49422586-G-A c.14382+25C>T - IntronicSNV - 46/54 1
12-49422606-C-T c.14382+5G>A - IntronicSNV - 46/54 2
12-49422610-C-A c.14382+1G>T - IntronicSNV - 46/54 1
12-49422611-C-A c.14382G>T p.K4794N Missense 46/55 - 1
12-49422611-C-G c.14382G>C p.K4794N Missense 46/55 - 1
12-49422611-C-T c.14382G>A p.K4794= Synonymous 46/55 - 1
12-49422612-T-C c.14381A>G p.K4794R Missense 46/55 - 3
12-49422611-CT-C c.14381del p.K4794Rfs*3 Frameshift 46/55 - 1
12-49422613-T-A c.14380A>T p.K4794* Nonsense 46/55 - 1
12-49422615-G-A c.14378C>T p.A4793V Missense 46/55 - 1
12-49422616-C-A c.14377G>T p.A4793S Missense 46/55 - 1
12-49422616-C-T c.14377G>A p.A4793T Missense 46/55 - 2
12-49422619-C-T c.14374G>A p.A4792T Missense 46/55 - 1
12-49422622-C-T c.14371G>A p.A4791T Missense 46/55 - 2
12-49422625-C-T c.14368G>A p.A4790T Missense 46/55 - 1
12-49422626-A-G c.14367T>C p.S4789= Synonymous 46/55 - 1
12-49422634-T-C c.14359A>G p.T4787A Missense 46/55 - 2
12-49422638-C-A c.14355G>T p.M4785I Missense 46/55 - 6
12-49422638-C-G c.14355G>C p.M4785I Missense 46/55 - 3
12-49422638-C-T c.14355G>A p.M4785I Missense 46/55 - 4
12-49422639-A-G c.14354T>C p.M4785T Missense 46/55 - 1
12-49422643-ACT-A c.14349_14350del p.V4784Hfs*32 Frameshift 46/55 - 1
12-49422643-C-T c.14350G>A p.V4784I Missense 46/55 - 1
12-49422645-G-T c.14348C>A p.S4783* Nonsense 46/55 - 1
12-49422647-C-A c.14346G>T p.V4782= Synonymous 46/55 - 1
12-49422647-C-G c.14346G>C p.V4782= Synonymous 46/55 - 1
12-49422647-C-T c.14346G>A p.V4782= Synonymous 46/55 - 1
12-49422649-C-A c.14344G>T p.V4782L Missense 46/55 - 2
12-49422649-C-G c.14344G>C p.V4782L Missense 46/55 - 1
12-49422652-C-A c.14341G>T p.E4781* Nonsense 46/55 - 2
12-49422654-C-T c.14339G>A p.S4780N Missense 46/55 - 2
12-49422655-T-C c.14338A>G p.S4780G Missense 46/55 - 1
12-49422655-T-G c.14338A>C p.S4780R Missense 46/55 - 1
12-49422657-C-A c.14336G>T p.G4779V Missense 46/55 - 5
12-49422657-C-G c.14336G>C p.G4779A Missense 46/55 - 2
12-49422658-C-A c.14335G>T p.G4779* Nonsense 46/55 - 2
12-49422659-T-A c.14334A>T p.K4778N Missense 46/55 - 5
12-49422659-T-G c.14334A>C p.K4778N Missense 46/55 - 3
12-49422661-T-TA c.14331_14332insT p.K4778* Nonsense 46/55 - 1
12-49422662-GC-G c.14330del p.G4777Afs*20 Frameshift 46/55 - 1
12-49422666-T-C c.14327A>G p.K4776R Missense 46/55 - 3
12-49422666-T-G c.14327A>C p.K4776T Missense 46/55 - 4
12-49422671-C-T c.14322G>A p.W4774* Nonsense 46/55 - 1
12-49422675-G-A c.14318C>T p.T4773I Missense 46/55 - 1
12-49422676-T-A c.14317A>T p.T4773S Missense 46/55 - 1
12-49422684-G-A c.14309C>T p.P4770L Missense 46/55 - 6
12-49422685-G-A c.14308C>T p.P4770S Missense 46/55 - 1
12-49422691-T-A c.14302A>T p.K4768* Nonsense 46/55 - 1
12-49422692-T-G c.14301A>C p.G4767= Synonymous 46/55 - 1
12-49422694-C-A c.14299G>T p.G4767* Nonsense 46/55 - 1
12-49422696-G-A c.14297C>T p.P4766L Missense 46/55 - 4
12-49422698-G-A c.14295C>T p.V4765= Synonymous 46/55 - 1
12-49422701-C-A c.14292G>T p.E4764D Missense 46/55 - 1
12-49422701-C-G c.14292G>C p.E4764D Missense 46/55 - 1
12-49422703-C-A c.14290G>T p.E4764* Nonsense 46/55 - 1
12-49422705-A-G c.14288T>C p.L4763P Missense 46/55 - 1
12-49422709-C-T c.14284G>A p.G4762S Missense 46/55 - 1
12-49422711-A-G c.14282T>C p.L4761P Missense 46/55 - 1
12-49422712-G-A c.14281C>T p.L4761F Missense 46/55 - 1
12-49422715-C-G c.14278G>C p.A4760P Missense 46/55 - 1
12-49422715-C-T c.14278G>A p.A4760T Missense 46/55 - 1
12-49422718-C-T c.14275G>A p.G4759R Missense 46/55 - 2
12-49422719-A-C c.14274T>G p.Y4758* Nonsense 46/55 - 2
12-49422719-A-G c.14274T>C p.Y4758= Synonymous 46/55 - 1
12-49422719-A-T c.14274T>A p.Y4758* Nonsense 46/55 - 3
12-49422720-T-C c.14273A>G p.Y4758C Missense 46/55 - 2
12-49422720-T-G c.14273A>C p.Y4758S Missense 46/55 - 1
12-49422723-G-A c.14270C>T p.P4757L Missense 46/55 - 1
12-49422724-G-A c.14269C>T p.P4757S Missense 46/55 - 1
12-49422725-T-A c.14268A>T p.K4756N Missense 46/55 - 5
12-49422725-T-G c.14268A>C p.K4756N Missense 46/55 - 4
12-49422724-G-GT c.14268dup p.P4757Tfs*25 Frameshift 46/55 - 1
12-49422727-T-A c.14266A>T p.K4756* Nonsense 46/55 - 2
12-49422727-T-G c.14266A>C p.K4756Q Missense 46/55 - 1
12-49422729-G-T c.14264C>A p.T4755N Missense 46/55 - 1
12-49422729-G-GT c.14263dup p.T4755Nfs*27 Frameshift 46/55 - 2
12-49422733-C-G c.14260G>C p.D4754H Missense 46/55 - 1
12-49422736-G-A c.14257C>T p.P4753S Missense 46/55 - 1
12-49422737-G-A c.14256C>T p.F4752= Synonymous 46/55 - 1
12-49422739-A-T c.14254T>A p.F4752I Missense 46/55 - 4
12-49422757-G-A c.14252-16C>T - IntronicSNV - 45/54 1
12-49422795-G-A c.14251+49C>T - IntronicSNV - 45/54 2
12-49422801-C-T c.14251+43G>A - IntronicSNV - 45/54 1
12-49422826-A-G c.14251+18T>C - IntronicSNV - 45/54 1
12-49422843-C-T c.14251+1G>A - IntronicSNV - 45/54 2
12-49422844-C-T c.14251G>A p.V4751I Missense 45/55 - 3
12-49422846-G-A c.14249C>T p.P4750L Missense 45/55 - 3
12-49422849-A-G c.14246T>C p.I4749T Missense 45/55 - 1
12-49422854-G-A c.14241C>T p.A4747= Synonymous 45/55 - 1
12-49422854-G-C c.14241C>G p.A4747= Synonymous 45/55 - 1
12-49422854-G-T c.14241C>A p.A4747= Synonymous 45/55 - 1
12-49422857-C-T c.14238G>A p.R4746= Synonymous 45/55 - 4
12-49422858-C-G c.14237G>C p.R4746P Missense 45/55 - 4
12-49422858-C-T c.14237G>A p.R4746Q Missense 45/55 - 6
12-49422859-G-A c.14236C>T p.R4746W Missense 45/55 - 3
12-49422861-G-T c.14234C>A p.P4745H Missense 45/55 - 1
12-49422862-G-A c.14233C>T p.P4745S Missense 45/55 - 1
12-49422867-A-T c.14228T>A p.L4743H Missense 45/55 - 1
12-49422871-G-A c.14224C>T p.P4742S Missense 45/55 - 2
12-49422871-G-C c.14224C>G p.P4742A Missense 45/55 - 1
12-49422876-AC-CA c.14218_14219delinsTG p.V4740C Missense 45/55 - 1
12-49422876-A-G c.14219T>C p.V4740A Missense 45/55 - 1
12-49422878-A-G c.14217T>C p.P4739= Synonymous 45/55 - 1
12-49422878-CAG-C c.14216_14217del p.P4739Rfs*42 Frameshift 45/55 - 1
12-49422879-G-A c.14216C>T p.P4739L Missense 45/55 - 1
12-49422879-G-C c.14216C>G p.P4739R Missense 45/55 - 1
12-49422880-G-C c.14215C>G p.P4739A Missense 45/55 - 1
12-49422878-A-AG c.14216dup p.V4740Cfs*42 Frameshift 45/55 - 1
12-49422882-G-A c.14213C>T p.S4738F Missense 45/55 - 1
12-49422888-G-A c.14207C>T p.A4736V Missense 45/55 - 2
12-49422889-C-A c.14206G>T p.A4736S Missense 45/55 - 2
12-49422891-C-A c.14204G>T p.R4735L Missense 45/55 - 1
12-49422891-C-T c.14204G>A p.R4735Q Missense 45/55 - 2
12-49422892-G-A c.14203C>T p.R4735W Missense 45/55 - 5
12-49422892-G-C c.14203C>G p.R4735G Missense 45/55 - 1
12-49422893-G-A c.14202C>T p.D4734= Synonymous 45/55 - 1
12-49422895-C-T c.14200G>A p.D4734N Missense 45/55 - 2
12-49422896-C-A c.14199G>T p.E4733D Missense 45/55 - 1
12-49422896-C-G c.14199G>C p.E4733D Missense 45/55 - 1
12-49422898-C-T c.14197G>A p.E4733K Missense 45/55 - 2
12-49422901-G-A c.14194C>T p.Q4732* Nonsense 45/55 - 5
12-49422902-C-A c.14193G>T p.E4731D Missense 45/55 - 5
12-49422902-C-G c.14193G>C p.E4731D Missense 45/55 - 4
12-49422904-C-G c.14191G>C p.E4731Q Missense 45/55 - 1
12-49422905-C-T c.14190G>A p.W4730* Nonsense 45/55 - 3
12-49422906-C-A c.14189G>T p.W4730L Missense 45/55 - 3
12-49422906-C-T c.14189G>A p.W4730* Nonsense 45/55 - 4
12-49422909-C-A c.14186G>T p.R4729L Missense 45/55 - 2
12-49422909-C-T c.14186G>A p.R4729Q Missense 45/55 - 2
12-49422910-G-A c.14185C>T p.R4729W Missense 45/55 - 4
12-49422912-C-T c.14183G>A p.G4728D Missense 45/55 - 2
12-49422915-G-C c.14180C>G p.S4727* Nonsense 45/55 - 2
12-49422915-G-T c.14180C>A p.S4727* Nonsense 45/55 - 2
12-49422916-A-G c.14179T>C p.S4727P Missense 45/55 - 5
12-49422918-C-A c.14177G>T p.G4726V Missense 45/55 - 1
12-49422918-C-T c.14177G>A p.G4726D Missense 45/55 - 1
12-49422923-A-C c.14172T>G p.H4724Q Missense 45/55 - 1
12-49422925-G-A c.14170C>T p.H4724Y Missense 45/55 - 2
12-49422925-TG-T c.14170del p.H4724Ifs*73 Frameshift 45/55 - 1
12-49422927-G-A c.14168C>T p.P4723L Missense 45/55 - 1
12-49422928-G-A c.14167C>T p.P4723S Missense 45/55 - 1
12-49422929-G-A c.14166C>T p.F4722= Synonymous 45/55 - 3
12-49422929-G-C c.14166C>G p.F4722L Missense 45/55 - 1
12-49422929-G-T c.14166C>A p.F4722L Missense 45/55 - 1
12-49422931-A-G c.14164T>C p.F4722L Missense 45/55 - 1
12-49422929-GA-G c.14165del p.F4722Sfs*75 Frameshift 45/55 - 1
12-49422933-C-T c.14162G>A p.R4721H Missense 45/55 - 2
12-49422934-G-A c.14161C>T p.R4721C Missense 45/55 - 5
12-49422934-G-T c.14161C>A p.R4721S Missense 45/55 - 1
12-49422940-C-T c.14155G>A p.A4719T Missense 45/55 - 1
12-49422943-C-A c.14152G>T p.E4718* Nonsense 45/55 - 1
12-49422943-C-T c.14152G>A p.E4718K Missense 45/55 - 1
12-49422947-C-A c.14148G>T p.G4716= Synonymous 45/55 - 2
12-49422947-C-G c.14148G>C p.G4716= Synonymous 45/55 - 2
12-49422947-C-T c.14148G>A p.G4716= Synonymous 45/55 - 2
12-49422948-C-A c.14147G>T p.G4716V Missense 45/55 - 1
12-49422948-C-T c.14147G>A p.G4716E Missense 45/55 - 1
12-49422949-C-A c.14146G>T p.G4716W Missense 45/55 - 1
12-49422949-C-G c.14146G>C p.G4716R Missense 45/55 - 1
12-49422950-C-A c.14145G>T p.L4715F Missense 45/55 - 1
12-49422950-C-G c.14145G>C p.L4715F Missense 45/55 - 3
12-49422952-A-T c.14143T>A p.L4715M Missense 45/55 - 1
12-49422955-T-A c.14140A>T p.I4714F Missense 45/55 - 2
12-49422957-C-G c.14138G>C p.S4713T Missense 45/55 - 1
12-49422957-C-T c.14138G>A p.S4713N Missense 45/55 - 2
12-49422958-T-C c.14137A>G p.S4713G Missense 45/55 - 2
12-49422956-GCT-G c.14137_14138del p.S4713Hfs*68 Frameshift 45/55 - 1
12-49422960-CT-C c.14135del p.E4712Gfs*85 Frameshift 45/55 - 1
12-49422961-C-A c.14134G>T p.E4712* Nonsense 45/55 - 2
12-49422961-C-T c.14134G>A p.E4712K Missense 45/55 - 1
12-49422966-G-A c.14129C>T p.S4710F Missense 45/55 - 1
12-49422969-G-A c.14126C>T p.S4709L Missense 45/55 - 1
12-49422969-G-T c.14126C>A p.S4709* Nonsense 45/55 - 1
12-49422973-C-A c.14122G>T p.A4708S Missense 45/55 - 2
12-49422973-C-T c.14122G>A p.A4708T Missense 45/55 - 3
12-49422971-AGCTGGCACAAT-A c.14113_14123del p.I4705Ffs*4 Frameshift 45/55 - 1
12-49422976-G-C c.14119C>G p.P4707A Missense 45/55 - 1
12-49422979-C-T c.14116G>A p.V4706M Missense 45/55 - 2
12-49422982-T-C c.14113A>G p.I4705V Missense 45/55 - 2
12-49422987-T-A c.14108A>T p.D4703V Missense 45/55 - 1
12-49422988-C-CA c.14106dup p.D4703* Nonsense 45/55 - 1
12-49422990-GG-AGGCTACC c.14104_14105delinsGGTAGCCT p.P4702delinsGSL MultiAAMissense 45/55 - 1
12-49422991-G-A c.14104C>T p.P4702S Missense 45/55 - 1
12-49422997-C-T c.14098G>A p.D4700N Missense 45/55 - 7
12-49422998-G-A c.14097C>T p.S4699= Synonymous 45/55 - 1
12-49423005-T-A c.14090A>T p.E4697V Missense 45/55 - 2
12-49423006-C-T c.14089G>A p.E4697K Missense 45/55 - 1
12-49423008-T-C c.14087A>G p.D4696G Missense 45/55 - 1
12-49423009-C-T c.14086G>A p.D4696N Missense 45/55 - 1
12-49423013-C-A c.14082G>T p.E4694D Missense 45/55 - 1
12-49423013-C-G c.14082G>C p.E4694D Missense 45/55 - 2
12-49423013-C-T c.14082G>A p.E4694= Synonymous 45/55 - 1
12-49423015-C-A c.14080G>T p.E4694* Nonsense 45/55 - 3
12-49423015-C-G c.14080G>C p.E4694Q Missense 45/55 - 6
12-49423018-T-C c.14077A>G p.M4693V Missense 45/55 - 2
12-49423160-C-T c.14075+24G>A - IntronicSNV - 44/54 1
12-49423182-A-G c.14075+2T>C - IntronicSNV - 44/54 2
12-49423183-C-T c.14075+1G>A - IntronicSNV - 44/54 3
12-49423184-C-T c.14075G>A p.R4692K Missense 44/55 - 1
12-49423185-T-A c.14074A>T p.R4692W Missense 44/55 - 1
12-49423182-ACCTGACAT-A c.14069_14075+1del - SpliceDonorDeletion 44/55 - 1
12-49423188-C-T c.14071G>A p.V4691I Missense 44/55 - 1
12-49423196-G-C c.14063C>G p.T4688S Missense 44/55 - 2
12-49423196-G-T c.14063C>A p.T4688N Missense 44/55 - 1
12-49423197-T-C c.14062A>G p.T4688A Missense 44/55 - 1
12-49423196-GTC-G c.14061_14062del p.Q4687Hfs*2 Frameshift 44/55 - 1
12-49423200-G-A c.14059C>T p.Q4687* Nonsense 44/55 - 4
12-49423202-T-G c.14057A>C p.N4686T Missense 44/55 - 1
12-49423204-G-C c.14055C>G p.H4685Q Missense 44/55 - 1
12-49423202-TTG-T c.14055_14056del p.H4685Qfs*4 Frameshift 44/55 - 2
12-49423208-G-A c.14051C>T p.P4684L Missense 44/55 - 2
12-49423207-AGG-A c.14050_14051del p.P4684Sfs*5 Frameshift 44/55 - 2
12-49423207-AG-A c.14051del p.P4684Lfs*113 Frameshift 44/55 - 3
12-49423217-G-A c.14042C>T p.P4681L Missense 44/55 - 1
12-49423218-G-A c.14041C>T p.P4681S Missense 44/55 - 2
12-49423220-AA-GG c.14038_14039delinsCC p.L4680P Missense 44/55 - 2
12-49423224-C-A c.14035G>T p.A4679S Missense 44/55 - 5
12-49423224-C-T c.14035G>A p.A4679T Missense 44/55 - 1
12-49423227-C-G c.14032G>C p.A4678P Missense 44/55 - 1
12-49423234-G-AGGGGGACC c.14025delinsGGTCCCCCT p.D4675Efs*125 Frameshift 44/55 - 1
12-49423236-C-T c.14023G>A p.D4675N Missense 44/55 - 1
12-49423237-T-A c.14022A>T p.L4674= Synonymous 44/55 - 1
12-49423238-A-G c.14021T>C p.L4674P Missense 44/55 - 2
12-49423243-C-G c.14016G>C p.K4672N Missense 44/55 - 1
12-49423247-A-T c.14012T>A p.V4671E Missense 44/55 - 2
12-49423251-C-A c.14008G>T p.E4670* Nonsense 44/55 - 1
12-49423253-G-C c.14006C>G p.S4669* Nonsense 44/55 - 1
12-49423255-A-T c.14004T>A p.T4668= Synonymous 44/55 - 1
12-49423257-T-A c.14002A>T p.T4668S Missense 44/55 - 1
12-49423259-T-C c.14000A>G p.D4667G Missense 44/55 - 1
12-49423519-G-A c.14000-260C>T - IntronicSNV - 43/54 3
12-49423519-G-T c.14000-260C>A - IntronicSNV - 43/54 3
12-49424058-C-T c.13999+5G>A - IntronicSNV - 43/54 1
12-49424062-C-G c.13999+1G>C - IntronicSNV - 43/54 1
12-49424062-C-T c.13999+1G>A - IntronicSNV - 43/54 3
12-49424065-C-A c.13997G>T p.R4666M Missense 43/55 - 3
12-49424064-CCT-C c.13996_13997del p.R4666Gfs*23 Frameshift 43/55 - 1
12-49424072-C-A c.13990G>T p.A4664S Missense 43/55 - 1
12-49424074-C-T c.13988G>A p.R4663K Missense 43/55 - 1
12-49424078-C-A c.13984G>T p.E4662* Nonsense 43/55 - 1
12-49424080-C-T c.13982G>A p.S4661N Missense 43/55 - 1
12-49424082-A-T c.13980T>A p.D4660E Missense 43/55 - 2
12-49424084-C-G c.13978G>C p.D4660H Missense 43/55 - 2
12-49424084-C-T c.13978G>A p.D4660N Missense 43/55 - 1
12-49424085-C-G c.13977G>C p.R4659= Synonymous 43/55 - 1
12-49424086-C-A c.13976G>T p.R4659L Missense 43/55 - 1
12-49424086-C-T c.13976G>A p.R4659Q Missense 43/55 - 3
12-49424087-G-A c.13975C>T p.R4659W Missense 43/55 - 6
12-49424089-G-A c.13973C>T p.A4658V Missense 43/55 - 2
12-49424089-G-T c.13973C>A p.A4658D Missense 43/55 - 1
12-49424090-C-T c.13972G>A p.A4658T Missense 43/55 - 1
12-49424092-G-A c.13970C>T p.S4657F Missense 43/55 - 1
12-49424092-G-C c.13970C>G p.S4657C Missense 43/55 - 3
12-49424093-A-G c.13969T>C p.S4657P Missense 43/55 - 1
12-49424095-G-A c.13967C>T p.A4656V Missense 43/55 - 1
12-49424096-C-A c.13966G>T p.A4656S Missense 43/55 - 1
12-49424098-G-A c.13964C>T p.A4655V Missense 43/55 - 2
12-49424099-C-A c.13963G>T p.A4655S Missense 43/55 - 1
12-49424102-C-T c.13960G>A p.D4654N Missense 43/55 - 1
12-49424105-T-A c.13957A>T p.K4653* Nonsense 43/55 - 4
12-49424111-G-A c.13951C>T p.H4651Y Missense 43/55 - 4
12-49424111-G-T c.13951C>A p.H4651N Missense 43/55 - 1
12-49424114-C-CA c.13947_13948insT p.E4650* Nonsense 43/55 - 1
12-49424114-C-T c.13948G>A p.E4650K Missense 43/55 - 1
12-49424116-C-T c.13946G>A p.G4649E Missense 43/55 - 1
12-49424113-TC-T c.13948del p.E4650Sfs*16 Frameshift 43/55 - 1
12-49424118-C-A c.13944G>T p.L4648= Synonymous 43/55 - 1
12-49424118-C-G c.13944G>C p.L4648= Synonymous 43/55 - 1
12-49424118-C-T c.13944G>A p.L4648= Synonymous 43/55 - 1
12-49424120-G-A c.13942C>T p.L4648= Synonymous 43/55 - 1
12-49424126-C-T c.13936G>A p.E4646K Missense 43/55 - 5
12-49424129-A-T c.13933T>A p.S4645T Missense 43/55 - 1
12-49424130-T-A c.13932A>T p.P4644= Synonymous 43/55 - 1
12-49424130-T-C c.13932A>G p.P4644= Synonymous 43/55 - 1
12-49424130-T-G c.13932A>C p.P4644= Synonymous 43/55 - 1
12-49424131-G-A c.13931C>T p.P4644L Missense 43/55 - 1
12-49424132-G-C c.13930C>G p.P4644A Missense 43/55 - 2
12-49424130-TG-T c.13931del p.P4644Hfs*22 Frameshift 43/55 - 1
12-49424137-A-C c.13925T>G p.V4642G Missense 43/55 - 1
12-49424138-C-T c.13924G>A p.V4642I Missense 43/55 - 3
12-49424139-G-A c.13923C>T p.G4641= Synonymous 43/55 - 5
12-49424139-G-C c.13923C>G p.G4641= Synonymous 43/55 - 4
12-49424139-G-T c.13923C>A p.G4641= Synonymous 43/55 - 4
12-49424141-C-A c.13921G>T p.G4641C Missense 43/55 - 1
12-49424142-A-T c.13920T>A p.N4640K Missense 43/55 - 1
12-49424147-C-T c.13915G>A p.V4639M Missense 43/55 - 2
12-49424150-T-A c.13912A>T p.M4638L Missense 43/55 - 1
12-49424159-G-A c.13903C>T p.Q4635* Nonsense 43/55 - 5
12-49424163-C-T c.13899G>A p.S4633= Synonymous 43/55 - 1
12-49424164-G-A c.13898C>T p.S4633L Missense 43/55 - 3
12-49424165-A-C c.13897T>G p.S4633A Missense 43/55 - 1
12-49424165-A-T c.13897T>A p.S4633T Missense 43/55 - 1
12-49424166-T-A c.13896A>T p.P4632= Synonymous 43/55 - 1
12-49424166-T-C c.13896A>G p.P4632= Synonymous 43/55 - 1
12-49424166-T-G c.13896A>C p.P4632= Synonymous 43/55 - 1
12-49424167-G-A c.13895C>T p.P4632L Missense 43/55 - 1
12-49424168-G-A c.13894C>T p.P4632S Missense 43/55 - 1
12-49424166-TG-T c.13895del p.P4632Hfs*8 Frameshift 43/55 - 3
12-49424166-T-TG c.13895dup p.S4633Ifs*14 Frameshift 43/55 - 1
12-49424172-T-A c.13890A>T p.P4630= Synonymous 43/55 - 1
12-49424172-T-C c.13890A>G p.P4630= Synonymous 43/55 - 1
12-49424172-T-G c.13890A>C p.P4630= Synonymous 43/55 - 2
12-49424173-G-A c.13889C>T p.P4630L Missense 43/55 - 1
12-49424174-G-A c.13888C>T p.P4630S Missense 43/55 - 3
12-49424175-G-T c.13887C>A p.T4629= Synonymous 43/55 - 1
12-49424176-GT-TG c.13885_13886delinsCA p.T4629H Missense 43/55 - 1
12-49424167-GGGGGT-G c.13890_13894del p.P4631Ifs*14 Frameshift 43/55 - 3
12-49424177-GT-G c.13885del p.T4629Pfs*11 Frameshift 43/55 - 1
12-49424177-T-G c.13885A>C p.T4629P Missense 43/55 - 13
12-49424179-G-A c.13883C>T p.P4628L Missense 43/55 - 1
12-49424180-G-A c.13882C>T p.P4628S Missense 43/55 - 1
12-49424182-G-A c.13880C>T p.P4627L Missense 43/55 - 1
12-49424177-TG-T c.13884del p.T4629Pfs*11 Frameshift 43/55 - 6
12-49424177-T-TG c.13884dup p.T4629Hfs*18 Frameshift 43/55 - 1
12-49424183-G-A c.13879C>T p.P4627S Missense 43/55 - 1
12-49424183-G-C c.13879C>G p.P4627A Missense 43/55 - 2
12-49424183-G-GC c.13878dup p.P4627Afs*20 Frameshift 43/55 - 2
12-49424185-A-C c.13877T>G p.L4626R Missense 43/55 - 1
12-49424187-C-A c.13875G>T p.S4625= Synonymous 43/55 - 1
12-49424187-C-G c.13875G>C p.S4625= Synonymous 43/55 - 1
12-49424187-C-T c.13875G>A p.S4625= Synonymous 43/55 - 1
12-49424188-G-A c.13874C>T p.S4625L Missense 43/55 - 3
12-49424188-G-T c.13874C>A p.S4625* Nonsense 43/55 - 1
12-49424191-G-A c.13871C>T p.S4624L Missense 43/55 - 3
12-49424191-G-C c.13871C>G p.S4624W Missense 43/55 - 1
12-49424194-G-A c.13868C>T p.P4623L Missense 43/55 - 1
12-49424197-G-A c.13865C>T p.P4622L Missense 43/55 - 1
12-49424198-G-A c.13864C>T p.P4622S Missense 43/55 - 3
12-49424199-T-A c.13863A>T p.T4621= Synonymous 43/55 - 2
12-49424199-T-C c.13863A>G p.T4621= Synonymous 43/55 - 2
12-49424199-T-G c.13863A>C p.T4621= Synonymous 43/55 - 2
12-49424203-G-A c.13859C>T p.P4620L Missense 43/55 - 2
12-49424207-G-T c.13855C>A p.P4619T Missense 43/55 - 1
12-49424208-G-A c.13854C>T p.N4618= Synonymous 43/55 - 1
12-49424213-T-G c.13849A>C p.S4617R Missense 43/55 - 1
12-49424216-G-T c.13846C>A p.L4616M Missense 43/55 - 1
12-49424222-T-A c.13840A>T p.N4614Y Missense 43/55 - 1
12-49424231-T-C c.13840-9A>G - IntronicSNV - 42/54 1
12-49424231-T-G c.13840-9A>C - IntronicSNV - 42/54 1
12-49424246-T-G c.13840-24A>C - IntronicSNV - 42/54 1
12-49424306-T-G c.13839+78A>C - IntronicSNV - 42/54 1
12-49424389-T-A c.13834A>T p.T4612S Missense 42/55 - 1
12-49424389-T-C c.13834A>G p.T4612A Missense 42/55 - 1
12-49424389-T-G c.13834A>C p.T4612P Missense 42/55 - 1
12-49424392-G-A c.13831C>T p.L4611F Missense 42/55 - 2
12-49424398-G-A c.13825C>T p.Q4609* Nonsense 42/55 - 1
12-49424399-G-A c.13824C>T p.S4608= Synonymous 42/55 - 1
12-49424401-A-T c.13822T>A p.S4608T Missense 42/55 - 2
12-49424402-A-C c.13821T>G p.Y4607* Nonsense 42/55 - 1
12-49424403-T-A c.13820A>T p.Y4607F Missense 42/55 - 1
12-49424405-G-C c.13818C>G p.Y4606* Nonsense 42/55 - 2
12-49424405-G-T c.13818C>A p.Y4606* Nonsense 42/55 - 1
12-49424406-T-C c.13817A>G p.Y4606C Missense 42/55 - 1
12-49424413-G-A c.13810C>T p.P4604S Missense 42/55 - 4
12-49424415-C-A c.13808G>T p.G4603V Missense 42/55 - 1
12-49424415-C-T c.13808G>A p.G4603D Missense 42/55 - 2
12-49424416-C-G c.13807G>C p.G4603R Missense 42/55 - 1
12-49424418-G-A c.13805C>T p.T4602I Missense 42/55 - 1
12-49424418-G-C c.13805C>G p.T4602S Missense 42/55 - 1
12-49424419-T-A c.13804A>T p.T4602S Missense 42/55 - 1
12-49424419-T-C c.13804A>G p.T4602A Missense 42/55 - 1
12-49424421-G-T c.13802C>A p.P4601H Missense 42/55 - 2
12-49424422-G-A c.13801C>T p.P4601S Missense 42/55 - 2
12-49424422-G-C c.13801C>G p.P4601A Missense 42/55 - 1
12-49424422-G-T c.13801C>A p.P4601T Missense 42/55 - 2
12-49424426-C-A c.13797G>T p.A4599= Synonymous 42/55 - 1
12-49424426-C-T c.13797G>A p.A4599= Synonymous 42/55 - 1
12-49424427-G-A c.13796C>T p.A4599V Missense 42/55 - 6
12-49424428-C-T c.13795G>A p.A4599T Missense 42/55 - 2
12-49424437-C-A c.13786G>T p.G4596* Nonsense 42/55 - 1
12-49424441-G-A c.13782C>T p.A4594= Synonymous 42/55 - 1
12-49424442-G-A c.13781C>T p.A4594V Missense 42/55 - 2
12-49424443-C-G c.13780G>C p.A4594P Missense 42/55 - 6
12-49424444-C-A c.13779G>T p.G4593= Synonymous 42/55 - 1
12-49424444-C-G c.13779G>C p.G4593= Synonymous 42/55 - 1
12-49424444-C-T c.13779G>A p.G4593= Synonymous 42/55 - 2
12-49424445-C-A c.13778G>T p.G4593V Missense 42/55 - 1
12-49424445-C-T c.13778G>A p.G4593E Missense 42/55 - 2
12-49424446-C-G c.13777G>C p.G4593R Missense 42/55 - 1
12-49424446-C-T c.13777G>A p.G4593R Missense 42/55 - 1
12-49424442-G-GC c.13780dup p.A4594Gfs*12 Frameshift 42/55 - 4
12-49424450-C-G c.13773G>C p.L4591= Synonymous 42/55 - 1
12-49424450-C-T c.13773G>A p.L4591= Synonymous 42/55 - 1
12-49424455-G-A c.13768C>T p.Q4590* Nonsense 42/55 - 5
12-49424459-C-A c.13764G>T p.Q4588H Missense 42/55 - 1
12-49424459-C-G c.13764G>C p.Q4588H Missense 42/55 - 1
12-49424458-TCTGCCCATTGACTGGGCAG-T c.13746_13764del p.C4583Afs*3 Frameshift 42/55 - 1
12-49424460-T-C c.13763A>G p.Q4588R Missense 42/55 - 1
12-49424461-G-A c.13762C>T p.Q4588* Nonsense 42/55 - 1
12-49424462-C-T c.13761G>A p.G4587= Synonymous 42/55 - 1
12-49424464-C-CA c.13758dup p.G4587Wfs*19 Frameshift 42/55 - 1
12-49424465-AT-GC c.13757_13758delinsGC p.N4586S Missense 42/55 - 1
12-49424466-T-C c.13757A>G p.N4586S Missense 42/55 - 1
12-49424467-T-A c.13756A>T p.N4586Y Missense 42/55 - 2
12-49424472-G-A c.13751C>T p.P4584L Missense 42/55 - 2
12-49424472-G-T c.13751C>A p.P4584Q Missense 42/55 - 1
12-49424474-G-C c.13749C>G p.C4583W Missense 42/55 - 1
12-49424474-G-T c.13749C>A p.C4583* Nonsense 42/55 - 2
12-49424475-C-T c.13748G>A p.C4583Y Missense 42/55 - 1
12-49424478-C-G c.13745G>C p.G4582A Missense 42/55 - 1
12-49424482-T-C c.13741A>G p.S4581G Missense 42/55 - 1
12-49424484-C-T c.13739G>A p.G4580D Missense 42/55 - 2
12-49424487-A-G c.13736T>C p.F4579S Missense 42/55 - 3
12-49424485-CA-C c.13737del p.F4579Lfs*13 Frameshift 42/55 - 1
12-49424488-A-T c.13735T>A p.F4579I Missense 42/55 - 1
12-49424489-G-A c.13734C>T p.P4578= Synonymous 42/55 - 1
12-49424489-G-C c.13734C>G p.P4578= Synonymous 42/55 - 1
12-49424489-G-T c.13734C>A p.P4578= Synonymous 42/55 - 1
12-49424491-G-A c.13732C>T p.P4578S Missense 42/55 - 1
12-49424494-CAA-C c.13727_13728del p.F4576Cfs*29 Frameshift 42/55 - 5
12-49424500-G-A c.13723C>T p.L4575F Missense 42/55 - 2
12-49424500-G-T c.13723C>A p.L4575I Missense 42/55 - 6
12-49424508-T-C c.13715A>G p.N4572S Missense 42/55 - 3
12-49424510-G-A c.13713C>T p.A4571= Synonymous 42/55 - 2
12-49424510-G-C c.13713C>G p.A4571= Synonymous 42/55 - 1
12-49424510-G-T c.13713C>A p.A4571= Synonymous 42/55 - 1
12-49424511-G-A c.13712C>T p.A4571V Missense 42/55 - 1
12-49424512-C-T c.13711G>A p.A4571T Missense 42/55 - 2
12-49424514-G-A c.13709C>T p.T4570I Missense 42/55 - 2
12-49424515-T-C c.13708A>G p.T4570A Missense 42/55 - 2
12-49424515-T-G c.13708A>C p.T4570P Missense 42/55 - 1
12-49424516-G-A c.13707C>T p.I4569= Synonymous 42/55 - 4
12-49424516-G-T c.13707C>A p.I4569= Synonymous 42/55 - 4
12-49424518-T-C c.13705A>G p.I4569V Missense 42/55 - 3
12-49424520-AG-A c.13703del p.A4568Vfs*24 Frameshift 42/55 - 2
12-49424520-G-A c.13703C>T p.A4568V Missense 42/55 - 1
12-49424521-C-G c.13702G>C p.A4568P Missense 42/55 - 1
12-49424521-C-T c.13702G>A p.A4568T Missense 42/55 - 1
12-49424523-G-A c.13700C>T p.P4567L Missense 42/55 - 1
12-49424526-T-A c.13697A>T p.E4566V Missense 42/55 - 2
12-49424527-C-T c.13696G>A p.E4566K Missense 42/55 - 1
12-49424529-G-A c.13694C>T p.T4565M Missense 42/55 - 2
12-49424532-A-G c.13691T>C p.L4564P Missense 42/55 - 1
12-49424533-G-A c.13690C>T p.L4564= Synonymous 42/55 - 1
12-49424533-G-C c.13690C>G p.L4564V Missense 42/55 - 1
12-49424534-G-A c.13689C>T p.P4563= Synonymous 42/55 - 14
12-49424534-G-C c.13689C>G p.P4563= Synonymous 42/55 - 2
12-49424534-G-T c.13689C>A p.P4563= Synonymous 42/55 - 13
12-49424535-G-A c.13688C>T p.P4563L Missense 42/55 - 2
12-49424536-G-A c.13687C>T p.P4563S Missense 42/55 - 1
12-49424538-A-G c.13685T>C p.L4562P Missense 42/55 - 1
12-49424543-G-A c.13680C>T p.S4560= Synonymous 42/55 - 1
12-49424543-G-C c.13680C>G p.S4560= Synonymous 42/55 - 1
12-49424543-G-T c.13680C>A p.S4560= Synonymous 42/55 - 1
12-49424548-G-C c.13675C>G p.L4559V Missense 42/55 - 3
12-49424551-C-G c.13672G>C p.E4558Q Missense 42/55 - 4
12-49424587-A-G c.13672-36T>C - IntronicSNV - 41/54 1
12-49424616-G-A c.13671+60C>T - IntronicSNV - 41/54 13
12-49424665-T-TG c.13671+10dup - IntronicInsertion - 41/54 2
12-49424676-CCTG-C c.13669_13671del p.Q4557del InFrameDeletion 41/55 - 1
12-49424677-T-G c.13670A>C p.Q4557P Missense 41/55 - 1
12-49424678-G-T c.13669C>A p.Q4557K Missense 41/55 - 1
12-49424679-T-A c.13668A>T p.K4556N Missense 41/55 - 1
12-49424681-T-A c.13666A>T p.K4556* Nonsense 41/55 - 2
12-49424681-T-C c.13666A>G p.K4556E Missense 41/55 - 1
12-49424681-T-TA c.13665_13666insT p.K4556* Nonsense 41/55 - 1
12-49424682-C-A c.13665G>T p.L4555= Synonymous 41/55 - 1
12-49424682-C-G c.13665G>C p.L4555= Synonymous 41/55 - 1
12-49424682-C-T c.13665G>A p.L4555= Synonymous 41/55 - 1
12-49424684-G-A c.13663C>T p.L4555= Synonymous 41/55 - 1
12-49424684-G-T c.13663C>A p.L4555M Missense 41/55 - 3
12-49424675-CCTGTTTCAG-C c.13663_13671del p.L4555_Q4557del SpliceDonorDeletion 41/55 - 3
12-49424686-T-A c.13661A>T p.Q4554L Missense 41/55 - 1
12-49424687-G-A c.13660C>T p.Q4554* Nonsense 41/55 - 2
12-49424687-TGTTTCAGCA-T c.13652_13660del p.L4551_Q4554delins* MultiAAMissense 41/55 - 5
12-49424688-GTTTCAGCAA-G c.13651_13659del p.L4551_K4553del InFrameDeletion 41/55 - 1
12-49424690-T-C c.13657A>G p.K4553E Missense 41/55 - 1
12-49424695-A-T c.13652T>A p.L4551* Nonsense 41/55 - 3
12-49424697-G-A c.13650C>T p.A4550= Synonymous 41/55 - 1
12-49424697-G-C c.13650C>G p.A4550= Synonymous 41/55 - 1
12-49424697-G-T c.13650C>A p.A4550= Synonymous 41/55 - 1
12-49424696-AG-A c.13650del p.L4551Cfs*2 Frameshift 41/55 - 1
12-49424698-G-A c.13649C>T p.A4550V Missense 41/55 - 1
12-49424701-T-G c.13646A>C p.E4549A Missense 41/55 - 1
12-49424702-C-T c.13645G>A p.E4549K Missense 41/55 - 6
12-49424703-G-A c.13644C>T p.S4548= Synonymous 41/55 - 4
12-49424703-G-C c.13644C>G p.S4548R Missense 41/55 - 1
12-49424714-C-A c.13633G>T p.V4545F Missense 41/55 - 4
12-49424714-C-T c.13633G>A p.V4545I Missense 41/55 - 2
12-49424716-C-T c.13631G>A p.G4544E Missense 41/55 - 1
12-49424717-C-A c.13630G>T p.G4544W Missense 41/55 - 2
12-49424717-C-G c.13630G>C p.G4544R Missense 41/55 - 1
12-49424717-C-T c.13630G>A p.G4544R Missense 41/55 - 3
12-49424718-G-GT c.13628dup p.D4543Efs*32 Frameshift 41/55 - 1
12-49424719-T-C c.13628A>G p.D4543G Missense 41/55 - 2
12-49424720-C-A c.13627G>T p.D4543Y Missense 41/55 - 1
12-49424721-C-A c.13626G>T p.E4542D Missense 41/55 - 1
12-49424724-C-A c.13623G>T p.K4541N Missense 41/55 - 1
12-49424724-C-G c.13623G>C p.K4541N Missense 41/55 - 1
12-49424728-C-T c.13619G>A p.R4540Q Missense 41/55 - 2
12-49424729-G-A c.13618C>T p.R4540W Missense 41/55 - 4
12-49424729-G-C c.13618C>G p.R4540G Missense 41/55 - 1
12-49424732-G-GAA c.13614_13615insTT p.L4539Ffs*15 Frameshift 41/55 - 3
12-49424735-T-A c.13612A>T p.K4538* Nonsense 41/55 - 1
12-49424736-C-A c.13611G>T p.K4537N Missense 41/55 - 1
12-49424736-C-G c.13611G>C p.K4537N Missense 41/55 - 1
12-49424737-T-C c.13610A>G p.K4537R Missense 41/55 - 2
12-49424740-C-G c.13607G>C p.R4536P Missense 41/55 - 1
12-49424740-C-T c.13607G>A p.R4536Q Missense 41/55 - 3
12-49424741-G-A c.13606C>T p.R4536* Nonsense 41/55 - 20
12-49424742-G-A c.13605C>T p.S4535= Synonymous 41/55 - 1
12-49424743-G-A c.13604C>T p.S4535F Missense 41/55 - 1
12-49424743-G-T c.13604C>A p.S4535Y Missense 41/55 - 1
12-49424746-C-T c.13601G>A p.S4534N Missense 41/55 - 1
12-49424748-C-T c.13599G>A p.V4533= Synonymous 41/55 - 1
12-49424750-C-A c.13597G>T p.V4533L Missense 41/55 - 1
12-49424752-A-T c.13595T>A p.L4532* Nonsense 41/55 - 1
12-49424755-C-T c.13592G>A p.R4531K Missense 41/55 - 1
12-49424756-T-A c.13591A>T p.R4531W Missense 41/55 - 1
12-49424756-T-C c.13591A>G p.R4531G Missense 41/55 - 2
12-49424758-T-C c.13589A>G p.D4530G Missense 41/55 - 1
12-49424759-C-T c.13588G>A p.D4530N Missense 41/55 - 6
12-49424760-G-T c.13587C>A p.S4529R Missense 41/55 - 1
12-49424761-C-T c.13586G>A p.S4529N Missense 41/55 - 2
12-49424764-G-C c.13583C>G p.A4528G Missense 41/55 - 1
12-49424765-C-T c.13582G>A p.A4528T Missense 41/55 - 2
12-49424767-T-C c.13580A>G p.K4527R Missense 41/55 - 1
12-49424766-CT-C c.13580del p.K4527Rfs*7 Frameshift 41/55 - 1
12-49424768-T-A c.13579A>T p.K4527* Nonsense 41/55 - 1
12-49424769-C-G c.13578G>C p.Q4526H Missense 41/55 - 1
12-49424770-T-C c.13577A>G p.Q4526R Missense 41/55 - 1
12-49424771-G-A c.13576C>T p.Q4526* Nonsense 41/55 - 3
12-49424773-TA-T c.13574del p.V4525Dfs*9 Frameshift 41/55 - 1
12-49424774-C-T c.13573G>A p.V4525I Missense 41/55 - 1
12-49424776-C-T c.13571G>A p.R4524Q Missense 41/55 - 2
12-49424777-G-A c.13570C>T p.R4524W Missense 41/55 - 4
12-49424779-T-C c.13568A>G p.K4523R Missense 41/55 - 5
12-49424779-T-G c.13568A>C p.K4523T Missense 41/55 - 2
12-49424783-G-A c.13564C>T p.P4522S Missense 41/55 - 1
12-49424786-T-A c.13561A>T p.K4521* Nonsense 41/55 - 2
12-49424788-G-A c.13559C>T p.P4520L Missense 41/55 - 4
12-49424788-G-T c.13559C>A p.P4520Q Missense 41/55 - 1
12-49424789-G-A c.13558C>T p.P4520S Missense 41/55 - 1
12-49424791-G-A c.13556C>T p.T4519I Missense 41/55 - 1
12-49424792-T-C c.13555A>G p.T4519A Missense 41/55 - 1
12-49424793-C-A c.13554G>T p.L4518F Missense 41/55 - 1
12-49424793-C-CA c.13553dup p.L4518Ffs*57 Frameshift 41/55 - 1
12-49424798-G-A c.13549C>T p.P4517S Missense 41/55 - 1
12-49424798-G-C c.13549C>G p.P4517A Missense 41/55 - 1
12-49424810-C-T c.13537G>A p.A4513T Missense 41/55 - 1
12-49424812-G-C c.13535C>G p.A4512G Missense 41/55 - 1
12-49424814-A-T c.13533T>A p.D4511E Missense 41/55 - 1
12-49424816-C-A c.13531G>T p.D4511Y Missense 41/55 - 1
12-49424957-C-T c.13530+1G>A - IntronicSNV - 40/54 1
12-49424960-C-A c.13528G>T p.E4510* Nonsense 40/55 - 1
12-49424960-C-G c.13528G>C p.E4510Q Missense 40/55 - 1
12-49424961-C-T c.13527G>A p.K4509= Synonymous 40/55 - 1
12-49424965-T-C c.13523A>G p.N4508S Missense 40/55 - 1
12-49424967-TG-T c.13521del p.S4507Rfs*12 Frameshift 40/55 - 1
12-49424968-CT-GC c.13519_13520delinsGC p.S4507A Missense 40/55 - 1
12-49424969-CT-C c.13519del p.S4507Afs*12 Frameshift 40/55 - 1
12-49424970-G-GA c.13517_13518insT p.S4507Qfs*68 Frameshift 40/55 - 1
12-49424972-G-A c.13516C>T p.P4506S Missense 40/55 - 4
12-49424972-G-T c.13516C>A p.P4506T Missense 40/55 - 1
12-49424973-G-A c.13515C>T p.T4505= Synonymous 40/55 - 2
12-49424969-TG-T c.13518del p.S4507Afs*12 Frameshift 40/55 - 4
12-49424974-G-A c.13514C>T p.T4505I Missense 40/55 - 1
12-49424975-T-C c.13513A>G p.T4505A Missense 40/55 - 1
12-49424977-C-T c.13511G>A p.G4504D Missense 40/55 - 1
12-49424981-G-A c.13507C>T p.Q4503* Nonsense 40/55 - 3
12-49424985-T-C c.13503A>G p.K4501= Synonymous 40/55 - 1
12-49424989-T-C c.13499A>G p.Q4500R Missense 40/55 - 1
12-49424989-T-G c.13499A>C p.Q4500P Missense 40/55 - 2
12-49424990-G-A c.13498C>T p.Q4500* Nonsense 40/55 - 1
12-49424990-G-C c.13498C>G p.Q4500E Missense 40/55 - 1
12-49424993-C-T c.13495G>A p.E4499K Missense 40/55 - 1
12-49424994-CCAGCCCAGCCAGCTTGCTGTCAAT-C c.13471_13494del p.I4491_L4498del InFrameDeletion 40/55 - 1
12-49424995-A-G c.13493T>C p.L4498P Missense 40/55 - 1
12-49424995-A-T c.13493T>A p.L4498Q Missense 40/55 - 1
12-49424998-C-T c.13490G>A p.G4497E Missense 40/55 - 1
12-49424999-C-T c.13489G>A p.G4497R Missense 40/55 - 2
12-49425001-G-A c.13487C>T p.A4496V Missense 40/55 - 3
12-49425002-C-A c.13486G>T p.A4496S Missense 40/55 - 4
12-49425002-C-T c.13486G>A p.A4496T Missense 40/55 - 2
12-49425005-G-C c.13483C>G p.L4495V Missense 40/55 - 1
12-49425007-T-G c.13481A>C p.K4494T Missense 40/55 - 5
12-49425013-T-C c.13475A>G p.D4492G Missense 40/55 - 1
12-49425014-C-T c.13474G>A p.D4492N Missense 40/55 - 2
12-49425016-A-G c.13472T>C p.I4491T Missense 40/55 - 1
12-49425016-A-T c.13472T>A p.I4491N Missense 40/55 - 2
12-49425017-T-C c.13471A>G p.I4491V Missense 40/55 - 1
12-49425022-C-T c.13466G>A p.G4489E Missense 40/55 - 3
12-49425023-C-G c.13465G>C p.G4489R Missense 40/55 - 1
12-49425023-C-T c.13465G>A p.G4489R Missense 40/55 - 3
12-49425024-G-A c.13464C>T p.N4488= Synonymous 40/55 - 1
12-49425025-T-C c.13463A>G p.N4488S Missense 40/55 - 5
12-49425027-G-C c.13461C>G p.I4487M Missense 40/55 - 1
12-49425028-A-G c.13460T>C p.I4487T Missense 40/55 - 1
12-49425029-T-TC c.13458dup p.I4487Dfs*6 Frameshift 40/55 - 1
12-49425031-CT-C c.13457del p.E4486Gfs*33 Frameshift 40/55 - 1
12-49425031-T-C c.13457A>G p.E4486G Missense 40/55 - 1
12-49425034-AG-A c.13454del p.A4485Vfs*34 Frameshift 40/55 - 1
12-49425034-G-C c.13454C>G p.A4485G Missense 40/55 - 1
12-49425037-C-T c.13451G>A p.R4484Q Missense 40/55 - 7
12-49425038-G-A c.13450C>T p.R4484* Nonsense 40/55 - 21
12-49425039-C-A c.13449G>T p.L4483= Synonymous 40/55 - 2
12-49425039-C-G c.13449G>C p.L4483= Synonymous 40/55 - 2
12-49425039-C-T c.13449G>A p.L4483= Synonymous 40/55 - 2
12-49425041-G-A c.13447C>T p.L4483= Synonymous 40/55 - 2
12-49425040-CA-C c.13448del p.L4483Rfs*36 Frameshift 40/55 - 1
12-49425044-C-G c.13444G>C p.G4482R Missense 40/55 - 2
12-49425044-C-T c.13444G>A p.G4482R Missense 40/55 - 2
12-49425047-C-A c.13441G>T p.E4481* Nonsense 40/55 - 1
12-49425047-C-T c.13441G>A p.E4481K Missense 40/55 - 2
12-49425049-G-A c.13439C>T p.S4480F Missense 40/55 - 1
12-49425050-A-C c.13438T>G p.S4480A Missense 40/55 - 1
12-49425050-A-G c.13438T>C p.S4480P Missense 40/55 - 2
12-49425053-C-A c.13435G>T p.G4479W Missense 40/55 - 1
12-49425053-C-G c.13435G>C p.G4479R Missense 40/55 - 1
12-49425050-A-AC c.13437dup p.S4480Vfs*7 Frameshift 40/55 - 1
12-49425050-AC-A c.13437del p.S4480Pfs*39 Frameshift 40/55 - 1
12-49425055-C-A c.13433G>T p.R4478L Missense 40/55 - 1
12-49425055-C-G c.13433G>C p.R4478P Missense 40/55 - 1
12-49425055-C-T c.13433G>A p.R4478Q Missense 40/55 - 4
12-49425055-C-CG c.13432dup p.R4478Pfs*9 Frameshift 40/55 - 1
12-49425056-G-A c.13432C>T p.R4478W Missense 40/55 - 7
12-49425059-C-G c.13429G>C p.G4477R Missense 40/55 - 3
12-49425059-C-T c.13429G>A p.G4477R Missense 40/55 - 5
12-49425062-GT-G c.13426del p.T4476Lfs*43 Frameshift 40/55 - 1
12-49425062-T-C c.13426A>G p.T4476A Missense 40/55 - 1
12-49425064-C-A c.13424G>T p.S4475I Missense 40/55 - 2
12-49425065-T-C c.13423A>G p.S4475G Missense 40/55 - 2
12-49425065-T-G c.13423A>C p.S4475R Missense 40/55 - 1
12-49425067-A-C c.13421T>G p.L4474R Missense 40/55 - 1
12-49425067-A-G c.13421T>C p.L4474P Missense 40/55 - 2
12-49425068-G-A c.13420C>T p.L4474F Missense 40/55 - 2
12-49425070-T-G c.13418A>C p.Q4473P Missense 40/55 - 5
12-49425071-G-A c.13417C>T p.Q4473* Nonsense 40/55 - 2
12-49425073-AC-TA c.13414_13415delinsTA p.V4472* Nonsense 40/55 - 1
12-49425073-A-G c.13415T>C p.V4472A Missense 40/55 - 5
12-49425071-GCA-G c.13415_13416del p.V4472Afs*14 Frameshift 40/55 - 2
12-49425076-ATT-A c.13411_13412del p.N4471Cfs*15 Frameshift 40/55 - 2
12-49425076-TTC-T c.13410_13411del p.N4471Cfs*15 Frameshift 40/55 - 1
12-49425078-C-A c.13410G>T p.K4470N Missense 40/55 - 10
12-49425078-C-G c.13410G>C p.K4470N Missense 40/55 - 9
12-49425079-T-A c.13409A>T p.K4470M Missense 40/55 - 1
12-49425083-C-T c.13405G>A p.A4469T Missense 40/55 - 1
12-49425085-C-T c.13403G>A p.R4468Q Missense 40/55 - 6
12-49425086-G-A c.13402C>T p.R4468W Missense 40/55 - 3
12-49425086-G-C c.13402C>G p.R4468G Missense 40/55 - 2
12-49425087-G-A c.13401C>T p.L4467= Synonymous 40/55 - 1
12-49425087-G-T c.13401C>A p.L4467= Synonymous 40/55 - 1
12-49425086-G-GGACC c.13401_13402insGGTC p.R4468Gfs*20 Frameshift 40/55 - 1
12-49425088-A-T c.13400T>A p.L4467H Missense 40/55 - 1
12-49425089-G-A c.13399C>T p.L4467F Missense 40/55 - 4
12-49425089-G-C c.13399C>G p.L4467V Missense 40/55 - 2
12-49425090-T-A c.13398A>T p.L4466= Synonymous 40/55 - 1
12-49425092-AGCTTCTGC-A c.13389_13396del p.L4463Ffs*21 Frameshift 40/55 - 1
12-49425098-G-A c.13390C>T p.Q4464* Nonsense 40/55 - 6
12-49425098-G-C c.13390C>G p.Q4464E Missense 40/55 - 1
12-49425098-G-T c.13390C>A p.Q4464K Missense 40/55 - 1
12-49425090-TAGCTTCTGCAAGAGCAGATGCCC-T c.13375_13397del p.G4459Tfs*20 Frameshift 40/55 - 1
12-49425100-CAAGAGCAGATGCCCAGCTTCTGA-C c.13366_13388del p.S4456Afs*23 Frameshift 40/55 - 2
12-49425102-G-A c.13386C>T p.L4462= Synonymous 40/55 - 2
12-49425102-G-C c.13386C>G p.L4462= Synonymous 40/55 - 1
12-49425102-G-T c.13386C>A p.L4462= Synonymous 40/55 - 1
12-49425103-A-G c.13385T>C p.L4462P Missense 40/55 - 1
12-49425102-GAGCAGATGCCC-G c.13375_13385del p.G4459Lfs*24 Frameshift 40/55 - 1
12-49425106-A-G c.13382T>C p.L4461P Missense 40/55 - 2
12-49425109-T-TTG c.13378_13379insCA p.H4460Pfs*60 Frameshift 40/55 - 1
12-49425112-C-T c.13376G>A p.G4459E Missense 40/55 - 1
12-49425113-C-A c.13375G>T p.G4459W Missense 40/55 - 1
12-49425119-C-T c.13369G>A p.E4457K Missense 40/55 - 1
12-49425121-G-A c.13367C>T p.S4456L Missense 40/55 - 1
12-49425121-G-C c.13367C>G p.S4456* Nonsense 40/55 - 3
12-49425121-G-T c.13367C>A p.S4456* Nonsense 40/55 - 1
12-49425122-A-C c.13366T>G p.S4456A Missense 40/55 - 2
12-49425120-TGAGC-T c.13364_13367del p.R4455Qfs*63 Frameshift 40/55 - 1
12-49425124-C-A c.13364G>T p.R4455L Missense 40/55 - 2
12-49425124-C-CCCCTAAACCGCACT c.13363_13364insAGTGCGGTTTAGGG p.R4455Qfs*69 Frameshift 40/55 - 1
12-49425124-C-T c.13364G>A p.R4455H Missense 40/55 - 8
12-49425125-G-A c.13363C>T p.R4455C Missense 40/55 - 2
12-49425125-G-GCCTAAACCGCACTC c.13362_13363insGAGTGCGGTTTAGG p.R4455Efs*69 Frameshift 40/55 - 1
12-49425127-G-C c.13361C>G p.P4454R Missense 40/55 - 2
12-49425128-G-A c.13360C>T p.P4454S Missense 40/55 - 1
12-49425126-AG-A c.13361del p.P4454Lfs*65 Frameshift 40/55 - 1
12-49425130-C-G c.13358G>C p.G4453A Missense 40/55 - 1
12-49425130-C-T c.13358G>A p.G4453D Missense 40/55 - 1
12-49425131-C-A c.13357G>T p.G4453C Missense 40/55 - 1
12-49425133-G-C c.13355C>G p.A4452G Missense 40/55 - 3
12-49425134-C-A c.13354G>T p.A4452S Missense 40/55 - 1
12-49425134-C-T c.13354G>A p.A4452T Missense 40/55 - 1
12-49425133-G-GC c.13354dup p.A4452Gfs*35 Frameshift 40/55 - 1
12-49425134-CCAG-C c.13351_13353del p.L4451del InFrameDeletion 40/55 - 1
12-49425142-A-T c.13346T>A p.L4449H Missense 40/55 - 1
12-49425142-GA-G c.13346del p.L4449Pfs*70 Frameshift 40/55 - 1
12-49425145-T-C c.13343A>G p.H4448R Missense 40/55 - 4
12-49425147-G-A c.13341C>T p.N4447= Synonymous 40/55 - 1
12-49425148-T-C c.13340A>G p.N4447S Missense 40/55 - 1
12-49425149-T-C c.13339A>G p.N4447D Missense 40/55 - 2
12-49425149-T-G c.13339A>C p.N4447H Missense 40/55 - 1
12-49425152-T-TA c.13335_13336insT p.S4446* Nonsense 40/55 - 2
12-49425157-C-A c.13331G>T p.G4444V Missense 40/55 - 2
12-49425157-C-G c.13331G>C p.G4444A Missense 40/55 - 1
12-49425157-C-T c.13331G>A p.G4444E Missense 40/55 - 3
12-49425157-TCC-T c.13330_13331del p.G4444Nfs*42 Frameshift 40/55 - 1
12-49425158-C-T c.13330G>A p.G4444R Missense 40/55 - 1
12-49425159-T-A c.13329A>T p.P4443= Synonymous 40/55 - 1
12-49425159-T-C c.13329A>G p.P4443= Synonymous 40/55 - 1
12-49425159-T-G c.13329A>C p.P4443= Synonymous 40/55 - 1
12-49425161-G-GT c.13326dup p.P4443Tfs*44 Frameshift 40/55 - 2
12-49425163-G-T c.13325C>A p.A4442E Missense 40/55 - 2
12-49425164-C-G c.13324G>C p.A4442P Missense 40/55 - 1
12-49425164-C-T c.13324G>A p.A4442T Missense 40/55 - 1
12-49425166-C-T c.13322G>A p.G4441E Missense 40/55 - 2
12-49425167-C-A c.13321G>T p.G4441W Missense 40/55 - 3
12-49425169-A-G c.13319T>C p.I4440T Missense 40/55 - 1
12-49425170-T-C c.13318A>G p.I4440V Missense 40/55 - 1
12-49425169-A-AT c.13318dup p.I4440Nfs*47 Frameshift 40/55 - 2
12-49425172-G-A c.13316C>T p.P4439L Missense 40/55 - 1
12-49425173-G-A c.13315C>T p.P4439S Missense 40/55 - 1
12-49425176-C-A c.13312G>T p.E4438* Nonsense 40/55 - 1
12-49425176-C-T c.13312G>A p.E4438K Missense 40/55 - 1
12-49425178-C-A c.13310G>T p.G4437V Missense 40/55 - 1
12-49425179-C-G c.13309G>C p.G4437R Missense 40/55 - 1
12-49425179-C-T c.13309G>A p.G4437R Missense 40/55 - 1
12-49425181-T-A c.13307A>T p.N4436I Missense 40/55 - 1
12-49425181-T-C c.13307A>G p.N4436S Missense 40/55 - 1
12-49425182-T-G c.13306A>C p.N4436H Missense 40/55 - 1
12-49425187-CT-C c.13301del p.E4434Gfs*7 Frameshift 40/55 - 1
12-49425188-C-T c.13300G>A p.E4434K Missense 40/55 - 1
12-49425196-A-G c.13292T>C p.V4431A Missense 40/55 - 2
12-49425199-G-C c.13289C>G p.S4430* Nonsense 40/55 - 1
12-49425199-G-T c.13289C>A p.S4430* Nonsense 40/55 - 1
12-49425200-A-T c.13288T>A p.S4430T Missense 40/55 - 3
12-49425203-G-A c.13285C>T p.Q4429* Nonsense 40/55 - 4
12-49425206-C-T c.13282G>A p.A4428T Missense 40/55 - 1
12-49425208-C-G c.13280G>C p.G4427A Missense 40/55 - 1
12-49425209-C-T c.13279G>A p.G4427R Missense 40/55 - 1
12-49425207-TC-T c.13280del p.G4427Efs*5 Frameshift 40/55 - 1
12-49425210-C-CA c.13277dup p.A4428Sfs*59 Frameshift 40/55 - 1
12-49425212-G-C c.13276C>G p.L4426V Missense 40/55 - 1
12-49425214-G-A c.13274C>T p.A4425V Missense 40/55 - 2
12-49425217-C-A c.13271G>T p.C4424F Missense 40/55 - 1
12-49425217-C-T c.13271G>A p.C4424Y Missense 40/55 - 1
12-49425220-G-A c.13268C>T p.P4423L Missense 40/55 - 2
12-49425219-TG-T c.13268del p.P4423Hfs*9 Frameshift 40/55 - 2
12-49425221-G-A c.13267C>T p.P4423S Missense 40/55 - 3
12-49425227-C-A c.13261G>T p.E4421* Nonsense 40/55 - 1
12-49425227-C-T c.13261G>A p.E4421K Missense 40/55 - 1
12-49425229-C-T c.13259G>A p.R4420Q Missense 40/55 - 5
12-49425230-G-A c.13258C>T p.R4420W Missense 40/55 - 12
12-49425229-CGAGGTTCCTGCTTGAT-C c.13243_13258del p.I4415Gfs*12 Frameshift 40/55 - 1
12-49425232-G-A c.13256C>T p.P4419L Missense 40/55 - 3
12-49425234-T-C c.13254A>G p.E4418= Synonymous 40/55 - 1
12-49425235-TC-T c.13252del p.E4418Nfs*14 Frameshift 40/55 - 2
12-49425239-G-A c.13249C>T p.Q4417* Nonsense 40/55 - 1
12-49425241-T-C c.13247A>G p.K4416R Missense 40/55 - 1
12-49425247-C-G c.13241G>C p.S4414T Missense 40/55 - 1
12-49425247-C-T c.13241G>A p.S4414N Missense 40/55 - 1
12-49425248-T-C c.13240A>G p.S4414G Missense 40/55 - 2
12-49425250-AG-CT c.13237_13238inv p.L4413S Missense 40/55 - 1
12-49425254-G-A c.13234C>T p.Q4412* Nonsense 40/55 - 2
12-49425256-G-A c.13232C>T p.S4411F Missense 40/55 - 2
12-49425256-G-C c.13232C>G p.S4411C Missense 40/55 - 2
12-49425260-C-A c.13228G>T p.A4410S Missense 40/55 - 3
12-49425264-A-C c.13224T>G p.P4408= Synonymous 40/55 - 1
12-49425264-A-G c.13224T>C p.P4408= Synonymous 40/55 - 1
12-49425264-A-T c.13224T>A p.P4408= Synonymous 40/55 - 1
12-49425265-G-A c.13223C>T p.P4408L Missense 40/55 - 3
12-49425265-G-T c.13223C>A p.P4408H Missense 40/55 - 1
12-49425268-A-C c.13220T>G p.V4407G Missense 40/55 - 4
12-49425268-A-G c.13220T>C p.V4407A Missense 40/55 - 3
12-49425272-C-T c.13216G>A p.V4406M Missense 40/55 - 1
12-49425275-G-A c.13213C>T p.Q4405* Nonsense 40/55 - 3
12-49425280-ATT-A c.13207_13208del p.N4403Wfs*6 Frameshift 40/55 - 2
12-49425285-C-A c.13203G>T p.Q4401H Missense 40/55 - 1
12-49425287-G-A c.13201C>T p.Q4401* Nonsense 40/55 - 1
12-49425288-G-A c.13200C>T p.D4400= Synonymous 40/55 - 1
12-49425288-G-T c.13200C>A p.D4400E Missense 40/55 - 1
12-49425292-A-G c.13196T>C p.L4399P Missense 40/55 - 3
12-49425293-G-A c.13195C>T p.L4399= Synonymous 40/55 - 1
12-49425293-G-C c.13195C>G p.L4399V Missense 40/55 - 1
12-49425297-CCC-GCT c.13189_13191delinsAGC p.G4397S Missense 40/55 - 1
12-49425298-C-A c.13190G>T p.G4397V Missense 40/55 - 3
12-49425299-C-A c.13189G>T p.G4397W Missense 40/55 - 1
12-49425305-C-A c.13183G>T p.V4395L Missense 40/55 - 1
12-49425309-G-A c.13179C>T p.S4393= Synonymous 40/55 - 1
12-49425309-G-C c.13179C>G p.S4393R Missense 40/55 - 1
12-49425309-G-T c.13179C>A p.S4393R Missense 40/55 - 1
12-49425311-T-G c.13177A>C p.S4393R Missense 40/55 - 1
12-49425310-C-A c.13178G>T p.S4393I Missense 40/55 - 1
12-49425313-CT-AG c.13174_13175inv p.S4392L Missense 40/55 - 1
12-49425315-C-A c.13173G>T p.Q4391H Missense 40/55 - 1
12-49425315-C-G c.13173G>C p.Q4391H Missense 40/55 - 1
12-49425315-C-T c.13173G>A p.Q4391= Synonymous 40/55 - 2
12-49425317-G-A c.13171C>T p.Q4391* Nonsense 40/55 - 1
12-49425320-C-G c.13168G>C p.E4390Q Missense 40/55 - 2
12-49425321-CTGG-C c.13165_13167del p.P4389del InFrameDeletion 40/55 - 1
12-49425322-G-C c.13166C>G p.P4389R Missense 40/55 - 1
12-49425323-G-A c.13165C>T p.P4389S Missense 40/55 - 1
12-49425324-CTTCTGGG-C c.13157_13163del p.T4386Sfs*15 Frameshift 40/55 - 1
12-49425328-T-C c.13160A>G p.Q4387R Missense 40/55 - 1
12-49425329-G-A c.13159C>T p.Q4387* Nonsense 40/55 - 2
12-49425324-CTTCTGGGT-C c.13156_13163del p.T4386Afs*21 Frameshift 40/55 - 1
12-49425331-G-A c.13157C>T p.T4386I Missense 40/55 - 2
12-49425332-T-C c.13156A>G p.T4386A Missense 40/55 - 1
12-49425334-T-C c.13154A>G p.E4385G Missense 40/55 - 1
12-49425334-T-G c.13154A>C p.E4385A Missense 40/55 - 1
12-49425337-G-A c.13151C>T p.A4384V Missense 40/55 - 1
12-49425338-C-T c.13150G>A p.A4384T Missense 40/55 - 1
12-49425341-G-A c.13147C>T p.L4383= Synonymous 40/55 - 1
12-49425344-T-C c.13144A>G p.N4382D Missense 40/55 - 2
12-49425349-G-A c.13139C>T p.P4380L Missense 40/55 - 1
12-49425350-G-A c.13138C>T p.P4380S Missense 40/55 - 1
12-49425350-G-GTACCTT c.13137_13138insAAGGTA p.P4379_P4380insKV InFrameInsertion 40/55 - 2
12-49425350-G-T c.13138C>A p.P4380T Missense 40/55 - 4
12-49425352-G-A c.13136C>T p.P4379L Missense 40/55 - 1
12-49425348-TG-T c.13139del p.P4380Qfs*4 Frameshift 40/55 - 1
12-49425353-G-A c.13135C>T p.P4379S Missense 40/55 - 1
12-49425353-G-C c.13135C>G p.P4379A Missense 40/55 - 1
12-49425354-A-C c.13134T>G p.D4378E Missense 40/55 - 1
12-49425354-A-T c.13134T>A p.D4378E Missense 40/55 - 1
12-49425357-CCCAAGG-C c.13126_13131del p.P4376_W4377del InFrameDeletion 40/55 - 2
12-49425357-C-T c.13131G>A p.W4377* Nonsense 40/55 - 10
12-49425358-C-T c.13130G>A p.W4377* Nonsense 40/55 - 6
12-49425358-C-CA c.13129dup p.W4377Lfs*33 Frameshift 40/55 - 1
12-49425361-G-A c.13127C>T p.P4376L Missense 40/55 - 1
12-49425367-A-T c.13121T>A p.L4374Q Missense 40/55 - 3
12-49425370-C-A c.13118G>T p.G4373V Missense 40/55 - 1
12-49425370-C-T c.13118G>A p.G4373D Missense 40/55 - 2
12-49425371-C-A c.13117G>T p.G4373C Missense 40/55 - 1
12-49425371-C-T c.13117G>A p.G4373S Missense 40/55 - 1
12-49425377-T-C c.13111A>G p.S4371G Missense 40/55 - 1
12-49425377-TAAAC-T c.13107_13110del p.F4370Afs*13 Frameshift 40/55 - 1
12-49425379-A-AACCTGTCTCTATAC c.13108_13109insGTATAGAGACAGGT p.F4370Cfs*19 Frameshift 40/55 - 1
12-49425381-C-G c.13107G>C p.L4369F Missense 40/55 - 1
12-49425382-A-C c.13106T>G p.L4369W Missense 40/55 - 1
12-49425382-A-G c.13106T>C p.L4369S Missense 40/55 - 1
12-49425383-A-C c.13105T>G p.L4369V Missense 40/55 - 2
12-49425383-AGGTATCT-A c.13098_13104del p.D4367Cfs*15 Frameshift 40/55 - 1
12-49425385-G-A c.13103C>T p.T4368I Missense 40/55 - 1
12-49425385-G-T c.13103C>A p.T4368N Missense 40/55 - 1
12-49425385-G-GT c.13102dup p.T4368Nfs*4 Frameshift 40/55 - 1
12-49425386-T-C c.13102A>G p.T4368A Missense 40/55 - 4
12-49425388-T-C c.13100A>G p.D4367G Missense 40/55 - 2
12-49425389-C-G c.13099G>C p.D4367H Missense 40/55 - 1
12-49425391-G-A c.13097C>T p.A4366V Missense 40/55 - 1
12-49425391-G-GC c.13096dup p.A4366Gfs*6 Frameshift 40/55 - 1
12-49425392-C-T c.13096G>A p.A4366T Missense 40/55 - 1
12-49425395-G-A c.13093C>T p.L4365F Missense 40/55 - 1
12-49425396-C-G c.13092G>C p.Q4364H Missense 40/55 - 1
12-49425397-T-A c.13091A>T p.Q4364L Missense 40/55 - 1
12-49425398-G-A c.13090C>T p.Q4364* Nonsense 40/55 - 2
12-49425398-G-T c.13090C>A p.Q4364K Missense 40/55 - 1
12-49425400-G-A c.13088C>T p.A4363V Missense 40/55 - 1
12-49425407-C-T c.13081G>A p.A4361T Missense 40/55 - 2
12-49425409-G-A c.13079C>T p.P4360L Missense 40/55 - 1
12-49425411-T-A c.13077A>T p.S4359= Synonymous 40/55 - 1
12-49425411-T-C c.13077A>G p.S4359= Synonymous 40/55 - 1
12-49425411-T-G c.13077A>C p.S4359= Synonymous 40/55 - 1
12-49425412-G-A c.13076C>T p.S4359L Missense 40/55 - 4
12-49425412-G-C c.13076C>G p.S4359* Nonsense 40/55 - 4
12-49425412-G-T c.13076C>A p.S4359* Nonsense 40/55 - 3
12-49425416-C-A c.13072G>T p.V4358F Missense 40/55 - 1
12-49425416-C-T c.13072G>A p.V4358I Missense 40/55 - 1
12-49425417-C-G c.13071G>C p.R4357S Missense 40/55 - 3
12-49425419-T-C c.13069A>G p.R4357G Missense 40/55 - 1
12-49425421-C-G c.13067G>C p.G4356A Missense 40/55 - 1
12-49425421-C-T c.13067G>A p.G4356E Missense 40/55 - 2
12-49425424-G-A c.13064C>T p.P4355L Missense 40/55 - 1
12-49425425-G-A c.13063C>T p.P4355S Missense 40/55 - 4
12-49425425-G-T c.13063C>A p.P4355T Missense 40/55 - 1
12-49425427-G-A c.13061C>T p.P4354L Missense 40/55 - 1
12-49425428-G-A c.13060C>T p.P4354S Missense 40/55 - 3
12-49425429-C-A c.13059G>T p.P4353= Synonymous 40/55 - 1
12-49425429-C-G c.13059G>C p.P4353= Synonymous 40/55 - 1
12-49425429-C-T c.13059G>A p.P4353= Synonymous 40/55 - 1
12-49425429-GC-G c.13059del p.P4354Lfs*30 Frameshift 40/55 - 1
12-49425430-G-A c.13058C>T p.P4353L Missense 40/55 - 4
12-49425432-C-A c.13056G>T p.E4352D Missense 40/55 - 1
12-49425434-C-T c.13054G>A p.E4352K Missense 40/55 - 1
12-49425436-A-T c.13052T>A p.L4351* Nonsense 40/55 - 1
12-49425439-G-T c.13049C>A p.T4350N Missense 40/55 - 1
12-49425440-T-C c.13048A>G p.T4350A Missense 40/55 - 3
12-49425439-G-GT c.13048dup p.T4350Nfs*22 Frameshift 40/55 - 1
12-49425441-TG-T c.13046del p.P4349Qfs*35 Frameshift 40/55 - 1
12-49425443-G-C c.13045C>G p.P4349A Missense 40/55 - 6
12-49425443-G-T c.13045C>A p.P4349T Missense 40/55 - 3
12-49425445-C-A c.13043G>T p.G4348V Missense 40/55 - 1
12-49425446-C-T c.13042G>A p.G4348R Missense 40/55 - 1
12-49425447-CCT-C c.13040_13041del p.Q4347Rfs*24 Frameshift 40/55 - 8
12-49425448-CTG-C c.13039_13040del p.Q4347Gfs*24 Frameshift 40/55 - 1
12-49425448-T-C c.13040A>G p.Q4347R Missense 40/55 - 2
12-49425449-G-A c.13039C>T p.Q4347* Nonsense 40/55 - 8
12-49425450-A-T c.13038T>A p.P4346= Synonymous 40/55 - 1
12-49425451-G-A c.13037C>T p.P4346L Missense 40/55 - 2
12-49425452-G-A c.13036C>T p.P4346S Missense 40/55 - 2
12-49425454-T-C c.13034A>G p.K4345R Missense 40/55 - 2
12-49425452-GT-G c.13035del p.K4345Nfs*39 Frameshift 40/55 - 2
12-49425455-T-A c.13033A>T p.K4345* Nonsense 40/55 - 3
12-49425457-G-A c.13031C>T p.P4344L Missense 40/55 - 1
12-49425458-G-A c.13030C>T p.P4344S Missense 40/55 - 1
12-49425460-G-A c.13028C>T p.T4343I Missense 40/55 - 1
12-49425463-C-A c.13025G>T p.G4342V Missense 40/55 - 3
12-49425467-G-A c.13021C>T p.P4341S Missense 40/55 - 1
12-49425468-A-T c.13020T>A p.H4340Q Missense 40/55 - 1
12-49425469-T-A c.13019A>T p.H4340L Missense 40/55 - 1
12-49425469-T-G c.13019A>C p.H4340P Missense 40/55 - 1
12-49425472-G-A c.13016C>T p.T4339I Missense 40/55 - 1
12-49425472-G-C c.13016C>G p.T4339S Missense 40/55 - 1
12-49425468-ATGGG-A c.13016_13019del p.T4339Ifs*44 Frameshift 40/55 - 1
12-49425473-T-G c.13015A>C p.T4339P Missense 40/55 - 2
12-49425476-G-C c.13012C>G p.P4338A Missense 40/55 - 1
12-49425477-A-C c.13011T>G p.P4337= Synonymous 40/55 - 1
12-49425477-A-G c.13011T>C p.P4337= Synonymous 40/55 - 1
12-49425477-A-T c.13011T>A p.P4337= Synonymous 40/55 - 1
12-49425478-G-C c.13010C>G p.P4337R Missense 40/55 - 2
12-49425473-TGGGA-T c.13011_13014del p.T4339Ifs*44 Frameshift 40/55 - 1
12-49425479-G-A c.13009C>T p.P4337S Missense 40/55 - 1
12-49425479-G-C c.13009C>G p.P4337A Missense 40/55 - 1
12-49425477-AG-A c.13010del p.P4337Lfs*47 Frameshift 40/55 - 2
12-49425480-G-A c.13008C>T p.L4336= Synonymous 40/55 - 2
12-49425483-C-A c.13005G>T p.Q4335H Missense 40/55 - 1
12-49425483-C-G c.13005G>C p.Q4335H Missense 40/55 - 1
12-49425485-G-A c.13003C>T p.Q4335* Nonsense 40/55 - 2
12-49425487-G-A c.13001C>T p.A4334V Missense 40/55 - 4
12-49425487-G-T c.13001C>A p.A4334D Missense 40/55 - 5
12-49425477-AGGGAGCTGGGCCTCAGTGGGAAGCT-A c.12986_13010del p.Q4329Lfs*47 Frameshift 40/55 - 1
12-49425489-C-A c.12999G>T p.E4333D Missense 40/55 - 2
12-49425489-C-G c.12999G>C p.E4333D Missense 40/55 - 2
12-49425489-C-T c.12999G>A p.E4333= Synonymous 40/55 - 1
12-49425493-G-GA c.12994_12995insT p.T4332Ifs*2 Frameshift 40/55 - 1
12-49425494-T-C c.12994A>G p.T4332A Missense 40/55 - 1
12-49425496-G-A c.12992C>T p.P4331L Missense 40/55 - 1
12-49425497-G-A c.12991C>T p.P4331S Missense 40/55 - 3
12-49425497-G-GA c.12990dup p.P4331Sfs*3 Frameshift 40/55 - 1
12-49425500-G-T c.12988C>A p.L4330I Missense 40/55 - 1
12-49425501-C-A c.12987G>T p.Q4329H Missense 40/55 - 1
12-49425502-T-C c.12986A>G p.Q4329R Missense 40/55 - 1
12-49425503-G-A c.12985C>T p.Q4329* Nonsense 40/55 - 9
12-49425503-G-T c.12985C>A p.Q4329K Missense 40/55 - 1
12-49425504-G-A c.12984C>T p.S4328= Synonymous 40/55 - 1
12-49425504-G-C c.12984C>G p.S4328= Synonymous 40/55 - 1
12-49425504-G-T c.12984C>A p.S4328= Synonymous 40/55 - 1
12-49425505-G-C c.12983C>G p.S4328C Missense 40/55 - 2
12-49425508-C-T c.12980G>A p.S4327N Missense 40/55 - 2
12-49425509-CT-C c.12979del p.S4327Afs*57 Frameshift 40/55 - 2
12-49425509-T-A c.12979A>T p.S4327C Missense 40/55 - 1
12-49425511-G-C c.12977C>G p.P4326R Missense 40/55 - 1
12-49425512-G-A c.12976C>T p.P4326S Missense 40/55 - 1
12-49425512-G-T c.12976C>A p.P4326T Missense 40/55 - 2
12-49425509-TG-T c.12978del p.S4327Afs*57 Frameshift 40/55 - 2
12-49425514-G-A c.12974C>T p.S4325F Missense 40/55 - 1
12-49425520-A-G c.12968T>C p.L4323S Missense 40/55 - 1
12-49425521-AAT-A c.12966_12967del p.Q4322Hfs*11 Frameshift 40/55 - 1
12-49425521-AT-A c.12966del p.Q4322Hfs*62 Frameshift 40/55 - 1
12-49425524-G-T c.12964C>A p.Q4322K Missense 40/55 - 1
12-49425526-G-C c.12962C>G p.S4321* Nonsense 40/55 - 1
12-49425526-G-T c.12962C>A p.S4321* Nonsense 40/55 - 2
12-49425528-A-T c.12960T>A p.P4320= Synonymous 40/55 - 1
12-49425530-G-A c.12958C>T p.P4320S Missense 40/55 - 2
12-49425530-G-T c.12958C>A p.P4320T Missense 40/55 - 1
12-49425532-C-A c.12956G>T p.R4319I Missense 40/55 - 6
12-49425532-C-T c.12956G>A p.R4319K Missense 40/55 - 1
12-49425533-T-A c.12955A>T p.R4319* Nonsense 40/55 - 2
12-49425534-TCTTTGGCTCTTGAGGGCTG-T c.12936_12954del p.S4313Dfs*65 Frameshift 40/55 - 1
12-49425534-CTT-C c.12952_12953del p.K4318Efs*15 Frameshift 40/55 - 1
12-49425536-T-C c.12952A>G p.K4318E Missense 40/55 - 1
12-49425536-T-G c.12952A>C p.K4318Q Missense 40/55 - 2
12-49425534-CT-C c.12953del p.K4318Rfs*66 Frameshift 40/55 - 1
12-49425542-C-A c.12946G>T p.E4316* Nonsense 40/55 - 4
12-49425543-CTT-C c.12944_12945del p.Q4315Rfs*18 Frameshift 40/55 - 1
12-49425543-T-G c.12945A>C p.Q4315H Missense 40/55 - 1
12-49425544-T-C c.12944A>G p.Q4315R Missense 40/55 - 4
12-49425545-G-A c.12943C>T p.Q4315* Nonsense 40/55 - 5
12-49425546-A-G c.12942T>C p.P4314= Synonymous 40/55 - 1
12-49425547-G-T c.12941C>A p.P4314H Missense 40/55 - 1
12-49425548-G-A c.12940C>T p.P4314S Missense 40/55 - 1
12-49425549-G-A c.12939C>T p.S4313= Synonymous 40/55 - 2
12-49425550-C-T c.12938G>A p.S4313N Missense 40/55 - 1
12-49425551-TGGATGGTG-T c.12929_12936del p.P4310Qfs*21 Frameshift 40/55 - 1
12-49425553-G-A c.12935C>T p.S4312F Missense 40/55 - 3
12-49425555-T-A c.12933A>T p.P4311= Synonymous 40/55 - 1
12-49425555-T-C c.12933A>G p.P4311= Synonymous 40/55 - 1
12-49425555-T-G c.12933A>C p.P4311= Synonymous 40/55 - 1
12-49425556-G-A c.12932C>T p.P4311L Missense 40/55 - 1
12-49425558-T-A c.12930A>T p.P4310= Synonymous 40/55 - 1
12-49425558-T-C c.12930A>G p.P4310= Synonymous 40/55 - 1
12-49425558-T-G c.12930A>C p.P4310= Synonymous 40/55 - 1
12-49425560-G-A c.12928C>T p.P4310S Missense 40/55 - 2
12-49425562-G-A c.12926C>T p.P4309L Missense 40/55 - 1
12-49425563-G-A c.12925C>T p.P4309S Missense 40/55 - 2
12-49425563-G-T c.12925C>A p.P4309T Missense 40/55 - 1
12-49425565-G-A c.12923C>T p.T4308I Missense 40/55 - 1
12-49425564-TGTGGGATGGACAGGGCCAA-T c.12905_12923del p.L4302Hfs*76 Frameshift 40/55 - 1
12-49425566-T-G c.12922A>C p.T4308P Missense 40/55 - 1
12-49425567-TGGG-T c.12919_12921del p.P4307del InFrameDeletion 40/55 - 1
12-49425569-G-A c.12919C>T p.P4307S Missense 40/55 - 2
12-49425571-T-G c.12917A>C p.H4306P Missense 40/55 - 1
12-49425572-G-A c.12916C>T p.H4306Y Missense 40/55 - 1
12-49425573-G-A c.12915C>T p.V4305= Synonymous 40/55 - 1
12-49425573-G-C c.12915C>G p.V4305= Synonymous 40/55 - 1
12-49425573-G-T c.12915C>A p.V4305= Synonymous 40/55 - 1
12-49425574-A-G c.12914T>C p.V4305A Missense 40/55 - 1
12-49425575-C-A c.12913G>T p.V4305F Missense 40/55 - 1
12-49425575-C-T c.12913G>A p.V4305I Missense 40/55 - 12
12-49425576-A-C c.12912T>G p.P4304= Synonymous 40/55 - 1
12-49425576-A-G c.12912T>C p.P4304= Synonymous 40/55 - 1
12-49425576-A-T c.12912T>A p.P4304= Synonymous 40/55 - 1
12-49425577-G-A c.12911C>T p.P4304L Missense 40/55 - 1
12-49425578-G-A c.12910C>T p.P4304S Missense 40/55 - 1
12-49425581-CA-C c.12906del p.G4303Afs*81 Frameshift 40/55 - 1
12-49425584-G-A c.12904C>T p.L4302F Missense 40/55 - 4
12-49425584-G-C c.12904C>G p.L4302V Missense 40/55 - 1
12-49425586-A-T c.12902T>A p.V4301D Missense 40/55 - 1
12-49425587-C-CCT c.12900_12901insAG p.V4301Rfs*84 Frameshift 40/55 - 1
12-49425589-G-GGCCCT c.12898_12899insAGGGC p.P4300Qfs*86 Frameshift 40/55 - 1
12-49425590-G-T c.12898C>A p.P4300T Missense 40/55 - 1
12-49425591-TC-T c.12896del p.G4299Dfs*85 Frameshift 40/55 - 1
12-49425595-G-A c.12893C>T p.T4298I Missense 40/55 - 2
12-49425594-TGTAGATAAGGCTCCTG-T c.12878_12893del p.P4293Qfs*86 Frameshift 40/55 - 1
12-49425598-G-A c.12890C>T p.S4297F Missense 40/55 - 1
12-49425599-A-G c.12889T>C p.S4297P Missense 40/55 - 4
12-49425599-A-T c.12889T>A p.S4297T Missense 40/55 - 1
12-49425601-A-T c.12887T>A p.L4296* Nonsense 40/55 - 1
12-49425602-A-C c.12886T>G p.L4296V Missense 40/55 - 1
12-49425608-C-G c.12880G>C p.G4294R Missense 40/55 - 2
12-49425608-C-T c.12880G>A p.G4294R Missense 40/55 - 1
12-49425610-G-T c.12878C>A p.P4293Q Missense 40/55 - 1
12-49425613-G-A c.12875C>T p.P4292L Missense 40/55 - 6
12-49425614-G-C c.12874C>G p.P4292A Missense 40/55 - 1
12-49425615-G-T c.12873C>A p.A4291= Synonymous 40/55 - 1
12-49425616-G-A c.12872C>T p.A4291V Missense 40/55 - 3
12-49425616-G-C c.12872C>G p.A4291G Missense 40/55 - 1
12-49425620-G-C c.12868C>G p.P4290A Missense 40/55 - 1
12-49425621-G-A c.12867C>T p.L4289= Synonymous 40/55 - 1
12-49425623-G-T c.12865C>A p.L4289I Missense 40/55 - 1
12-49425625-C-T c.12863G>A p.R4288Q Missense 40/55 - 7
12-49425626-G-A c.12862C>T p.R4288W Missense 40/55 - 2
12-49425627-G-A c.12861C>T p.P4287= Synonymous 40/55 - 1
12-49425627-G-C c.12861C>G p.P4287= Synonymous 40/55 - 1
12-49425627-G-T c.12861C>A p.P4287= Synonymous 40/55 - 1
12-49425628-G-A c.12860C>T p.P4287L Missense 40/55 - 1
12-49425629-G-A c.12859C>T p.P4287S Missense 40/55 - 3
12-49425629-G-T c.12859C>A p.P4287T Missense 40/55 - 2
12-49425631-G-A c.12857C>T p.P4286L Missense 40/55 - 1
12-49425631-TGGGCCCTGAGGTCGAGGCCCTGCCC-T c.12833_12857del p.G4278Dfs*98 Frameshift 40/55 - 1
12-49425633-G-A c.12855C>T p.G4285= Synonymous 40/55 - 2
12-49425634-C-A c.12854G>T p.G4285V Missense 40/55 - 1
12-49425635-C-T c.12853G>A p.G4285S Missense 40/55 - 1
12-49425636-C-T c.12852G>A p.Q4284= Synonymous 40/55 - 1
12-49425637-T-C c.12851A>G p.Q4284R Missense 40/55 - 1
12-49425638-G-A c.12850C>T p.Q4284* Nonsense 40/55 - 10
12-49425640-G-A c.12848C>T p.P4283L Missense 40/55 - 2
12-49425640-G-C c.12848C>G p.P4283R Missense 40/55 - 3
12-49425641-G-A c.12847C>T p.P4283S Missense 40/55 - 1
12-49425643-C-T c.12845G>A p.R4282Q Missense 40/55 - 4
12-49425644-G-A c.12844C>T p.R4282* Nonsense 40/55 - 27
12-49425646-G-C c.12842C>G p.P4281R Missense 40/55 - 1
12-49425647-G-A c.12841C>T p.P4281S Missense 40/55 - 2
12-49425650-C-G c.12838G>C p.G4280R Missense 40/55 - 1
12-49425653-C-T c.12835G>A p.A4279T Missense 40/55 - 1
12-49425655-C-A c.12833G>T p.G4278V Missense 40/55 - 4
12-49425655-C-T c.12833G>A p.G4278E Missense 40/55 - 1
12-49425659-G-C c.12829C>G p.L4277V Missense 40/55 - 1
12-49425662-C-T c.12826G>A p.E4276K Missense 40/55 - 1
12-49425664-T-C c.12824A>G p.Q4275R Missense 40/55 - 1
12-49425665-G-A c.12823C>T p.Q4275* Nonsense 40/55 - 6
12-49425666-GAG-CAT c.12820_12822delinsATG p.L4274M Missense 40/55 - 1
12-49425668-G-A c.12820C>T p.L4274F Missense 40/55 - 1
12-49425668-G-C c.12820C>G p.L4274V Missense 40/55 - 1
12-49425668-G-T c.12820C>A p.L4274I Missense 40/55 - 1
12-49425670-G-A c.12818C>T p.P4273L Missense 40/55 - 1
12-49425671-G-C c.12817C>G p.P4273A Missense 40/55 - 1
12-49425671-G-T c.12817C>A p.P4273T Missense 40/55 - 3
12-49425672-G-T c.12816C>A p.G4272= Synonymous 40/55 - 1
12-49425673-C-G c.12815G>C p.G4272A Missense 40/55 - 2
12-49425673-C-T c.12815G>A p.G4272D Missense 40/55 - 11
12-49425676-G-C c.12812C>G p.T4271R Missense 40/55 - 1
12-49425673-CCTGT-C c.12811_12814del p.T4271Afs*6 Frameshift 40/55 - 1
12-49425677-T-TC c.12810dup p.T4271Dfs*63 Frameshift 40/55 - 2
12-49425679-TG-GT c.12808_12809delinsAC p.Q4270T Missense 40/55 - 1
12-49425680-G-A c.12808C>T p.Q4270* Nonsense 40/55 - 2
12-49425683-G-A c.12805C>T p.P4269S Missense 40/55 - 2
12-49425685-C-A c.12803G>T p.G4268V Missense 40/55 - 1
12-49425685-C-T c.12803G>A p.G4268E Missense 40/55 - 2
12-49425686-C-T c.12802G>A p.G4268R Missense 40/55 - 1
12-49425688-G-A c.12800C>T p.P4267L Missense 40/55 - 2
12-49425689-G-A c.12799C>T p.P4267S Missense 40/55 - 2
12-49425687-AG-A c.12800del p.P4267Lfs*11 Frameshift 40/55 - 1
12-49425692-AGCCCCC-GGCCCCCA c.12790_12796delinsTGGGGGCC p.G4264Wfs*70 Frameshift 40/55 - 1
12-49425694-C-G c.12794G>C p.G4265A Missense 40/55 - 1
12-49425694-C-T c.12794G>A p.G4265D Missense 40/55 - 1
12-49425695-C-G c.12793G>C p.G4265R Missense 40/55 - 1
12-49425695-C-T c.12793G>A p.G4265S Missense 40/55 - 1
12-49425696-C-A c.12792G>T p.G4264= Synonymous 40/55 - 1
12-49425696-C-G c.12792G>C p.G4264= Synonymous 40/55 - 1
12-49425696-C-T c.12792G>A p.G4264= Synonymous 40/55 - 1
12-49425698-C-A c.12790G>T p.G4264W Missense 40/55 - 1
12-49425699-A-G c.12789T>C p.L4263= Synonymous 40/55 - 1
12-49425700-A-G c.12788T>C p.L4263P Missense 40/55 - 1
12-49425701-G-A c.12787C>T p.L4263F Missense 40/55 - 1
12-49425702-T-G c.12786A>C p.Q4262H Missense 40/55 - 1
12-49425703-T-C c.12785A>G p.Q4262R Missense 40/55 - 1
12-49425703-T-G c.12785A>C p.Q4262P Missense 40/55 - 1
12-49425704-G-A c.12784C>T p.Q4262* Nonsense 40/55 - 6
12-49425704-G-C c.12784C>G p.Q4262E Missense 40/55 - 1
12-49425708-T-A c.12780A>T p.Q4260H Missense 40/55 - 1
12-49425708-T-C c.12780A>G p.Q4260= Synonymous 40/55 - 2
12-49425711-G-T c.12777C>A p.C4259* Nonsense 40/55 - 1
12-49425716-C-T c.12772G>A p.G4258S Missense 40/55 - 4
12-49425718-A-AAGTTGAGATG c.12769_12770insCATCTCAACT p.L4257Pfs*80 Frameshift 40/55 - 1
12-49425718-CA-C c.12770del p.L4257Rfs*21 Frameshift 40/55 - 1
12-49425720-G-A c.12768C>T p.L4256= Synonymous 40/55 - 1
12-49425722-G-A c.12766C>T p.L4256F Missense 40/55 - 1
12-49425724-C-T c.12764G>A p.G4255D Missense 40/55 - 5
12-49425727-T-C c.12761A>G p.Q4254R Missense 40/55 - 2
12-49425728-G-A c.12760C>T p.Q4254* Nonsense 40/55 - 5
12-49425727-TG-T c.12760del p.Q4254Rfs*24 Frameshift 40/55 - 1
12-49425731-G-T c.12757C>A p.L4253I Missense 40/55 - 1
12-49425732-G-A c.12756C>T p.P4252= Synonymous 40/55 - 3
12-49425732-G-C c.12756C>G p.P4252= Synonymous 40/55 - 2
12-49425732-G-T c.12756C>A p.P4252= Synonymous 40/55 - 2
12-49425734-G-A c.12754C>T p.P4252S Missense 40/55 - 1
12-49425732-GGGAGA-G c.12751_12755del p.S4251Pfs*81 Frameshift 40/55 - 1
12-49425736-G-A c.12752C>T p.S4251F Missense 40/55 - 3
12-49425736-G-C c.12752C>G p.S4251C Missense 40/55 - 1
12-49425740-T-G c.12748A>C p.T4250P Missense 40/55 - 1
12-49425741-C-A c.12747G>T p.Q4249H Missense 40/55 - 2
12-49425741-C-G c.12747G>C p.Q4249H Missense 40/55 - 2
12-49425743-G-A c.12745C>T p.Q4249* Nonsense 40/55 - 1
12-49425745-G-A c.12743C>T p.T4248I Missense 40/55 - 6
12-49425745-GTCCCAGGC-G c.12735_12742del p.E4245Dfs*86 Frameshift 40/55 - 1
12-49425750-A-C c.12738T>G p.P4246= Synonymous 40/55 - 1
12-49425750-A-G c.12738T>C p.P4246= Synonymous 40/55 - 1
12-49425750-A-T c.12738T>A p.P4246= Synonymous 40/55 - 1
12-49425752-G-A c.12736C>T p.P4246S Missense 40/55 - 1
12-49425753-C-G c.12735G>C p.E4245D Missense 40/55 - 1
12-49425755-C-A c.12733G>T p.E4245* Nonsense 40/55 - 2
12-49425757-CT-C c.12731del p.Q4244Rfs*34 Frameshift 40/55 - 1
12-49425757-T-C c.12731A>G p.Q4244R Missense 40/55 - 1
12-49425757-T-TTC c.12730_12731insGA p.Q4244Rfs*35 Frameshift 40/55 - 1
12-49425758-G-A c.12730C>T p.Q4244* Nonsense 40/55 - 2
12-49425760-T-A c.12728A>T p.Y4243F Missense 40/55 - 1
12-49425760-T-G c.12728A>C p.Y4243S Missense 40/55 - 1
12-49425763-G-A c.12725C>T p.P4242L Missense 40/55 - 1
12-49425763-G-C c.12725C>G p.P4242R Missense 40/55 - 3
12-49425764-G-C c.12724C>G p.P4242A Missense 40/55 - 1
12-49425765-T-A c.12723A>T p.P4241= Synonymous 40/55 - 2
12-49425765-T-C c.12723A>G p.P4241= Synonymous 40/55 - 2
12-49425765-T-G c.12723A>C p.P4241= Synonymous 40/55 - 2
12-49425766-G-C c.12722C>G p.P4241R Missense 40/55 - 2
12-49425767-G-A c.12721C>T p.P4241S Missense 40/55 - 2
12-49425769-G-A c.12719C>T p.T4240I Missense 40/55 - 1
12-49425770-T-C c.12718A>G p.T4240A Missense 40/55 - 1
12-49425772-CTG-C c.12715_12716del p.Q4239Dfs*94 Frameshift 40/55 - 1
12-49425773-G-A c.12715C>T p.Q4239* Nonsense 40/55 - 2
12-49425775-C-A c.12713G>T p.R4238L Missense 40/55 - 1
12-49425775-C-T c.12713G>A p.R4238H Missense 40/55 - 2
12-49425776-G-A c.12712C>T p.R4238C Missense 40/55 - 12
12-49425776-G-GT c.12711dup p.R4238Tfs*96 Frameshift 40/55 - 1
12-49425778-A-G c.12710T>C p.V4237A Missense 40/55 - 1
12-49425778-TACTG-T c.12707_12710del p.A4236Dfs*41 Frameshift 40/55 - 1
12-49425781-G-T c.12707C>A p.A4236E Missense 40/55 - 1
12-49425782-C-T c.12706G>A p.A4236T Missense 40/55 - 1
12-49425784-CTG-C c.12703_12704del p.Q4235Gfs*98 Frameshift 40/55 - 1
12-49425785-G-A c.12703C>T p.Q4235* Nonsense 40/55 - 4
12-49425785-G-C c.12703C>G p.Q4235E Missense 40/55 - 2
12-49425785-G-T c.12703C>A p.Q4235K Missense 40/55 - 1
12-49425788-T-TA c.12699_12700insT p.S4234* Nonsense 40/55 - 1
12-49425786-ACT-A c.12700_12701del p.Q4235Gfs*98 Frameshift 40/55 - 2
12-49425789-C-CGCTGCA c.12698_12699insTGCAGC p.Q4233delinsHAA MultiAAMissense 40/55 - 1
12-49425789-C-G c.12699G>C p.Q4233H Missense 40/55 - 1
12-49425790-T-C c.12698A>G p.Q4233R Missense 40/55 - 2
12-49425791-G-A c.12697C>T p.Q4233* Nonsense 40/55 - 1
12-49425792-C-A c.12696G>T p.Q4232H Missense 40/55 - 1
12-49425792-C-G c.12696G>C p.Q4232H Missense 40/55 - 1
12-49425793-T-A c.12695A>T p.Q4232L Missense 40/55 - 1
12-49425793-T-C c.12695A>G p.Q4232R Missense 40/55 - 1
12-49425794-G-A c.12694C>T p.Q4232* Nonsense 40/55 - 5
12-49425796-A-C c.12692T>G p.L4231R Missense 40/55 - 1
12-49425797-G-A c.12691C>T p.L4231= Synonymous 40/55 - 1
12-49425799-CTGCCGCTGCATGA-C c.12677_12689del p.L4226Rfs*48 Frameshift 40/55 - 1
12-49425800-G-A c.12688C>T p.Q4230* Nonsense 40/55 - 9
12-49425802-C-T c.12686G>A p.R4229Q Missense 40/55 - 3
12-49425801-C-A c.12687G>T p.R4229= Synonymous 40/55 - 1
12-49425801-C-G c.12687G>C p.R4229= Synonymous 40/55 - 1
12-49425801-C-T c.12687G>A p.R4229= Synonymous 40/55 - 1
12-49425803-G-A c.12685C>T p.R4229W Missense 40/55 - 8
12-49425803-G-T c.12685C>A p.R4229= Synonymous 40/55 - 1
12-49425804-C-A c.12684G>T p.Q4228H Missense 40/55 - 1
12-49425804-C-G c.12684G>C p.Q4228H Missense 40/55 - 1
12-49425805-T-C c.12683A>G p.Q4228R Missense 40/55 - 1
12-49425806-G-A c.12682C>T p.Q4228* Nonsense 40/55 - 2
12-49425806-G-C c.12682C>G p.Q4228E Missense 40/55 - 6
12-49425808-A-G c.12680T>C p.M4227T Missense 40/55 - 2
12-49425809-T-C c.12679A>G p.M4227V Missense 40/55 - 2
12-49425809-TGA-T c.12677_12678del p.L4226Hfs*107 Frameshift 40/55 - 1
12-49425811-A-G c.12677T>C p.L4226P Missense 40/55 - 1
12-49425812-G-A c.12676C>T p.L4226F Missense 40/55 - 3
12-49425815-G-A c.12673C>T p.L4225F Missense 40/55 - 2
12-49425815-G-GT c.12672dup p.L4225Tfs*109 Frameshift 40/55 - 1
12-49425817-G-A c.12671C>T p.A4224V Missense 40/55 - 1
12-49425818-C-T c.12670G>A p.A4224T Missense 40/55 - 1
12-49425820-T-C c.12668A>G p.Q4223R Missense 40/55 - 2
12-49425821-G-A c.12667C>T p.Q4223* Nonsense 40/55 - 5
12-49425823-A-G c.12665T>C p.L4222P Missense 40/55 - 4
12-49425824-G-C c.12664C>G p.L4222V Missense 40/55 - 3
12-49425825-C-G c.12663G>C p.Q4221H Missense 40/55 - 1
12-49425827-G-A c.12661C>T p.Q4221* Nonsense 40/55 - 3
12-49425828-C-CT c.12659dup p.Q4221Afs*113 Frameshift 40/55 - 1
12-49425832-T-G c.12656A>C p.Q4219P Missense 40/55 - 1
12-49425835-T-C c.12653A>G p.Q4218R Missense 40/55 - 1
12-49425835-T-G c.12653A>C p.Q4218P Missense 40/55 - 1
12-49425823-AGCT-A c.12662_12664del p.Q4221del InFrameDeletion 40/55 - 2
12-49425837-C-A c.12651G>T p.Q4217H Missense 40/55 - 1
12-49425839-G-A c.12649C>T p.Q4217* Nonsense 40/55 - 6
12-49425840-AG-A c.12647del p.P4216Lfs*62 Frameshift 40/55 - 1
12-49425842-G-A c.12646C>T p.P4216S Missense 40/55 - 4
12-49425843-A-G c.12645T>C p.S4215= Synonymous 40/55 - 1
12-49425844-C-A c.12644G>T p.S4215I Missense 40/55 - 1
12-49425847-A-C c.12641T>G p.L4214* Nonsense 40/55 - 1
12-49425847-A-T c.12641T>A p.L4214* Nonsense 40/55 - 1
12-49425849-G-T c.12639C>A p.H4213Q Missense 40/55 - 1
12-49425850-T-C c.12638A>G p.H4213R Missense 40/55 - 1
12-49425851-G-A c.12637C>T p.H4213Y Missense 40/55 - 1
12-49425853-C-A c.12635G>T p.R4212L Missense 40/55 - 2
12-49425853-C-T c.12635G>A p.R4212Q Missense 40/55 - 10
12-49425854-G-A c.12634C>T p.R4212W Missense 40/55 - 5
12-49425858-GC-G c.12630del p.Q4210Hfs*5 Frameshift 40/55 - 1
12-49425860-G-A c.12628C>T p.Q4210* Nonsense 40/55 - 1
12-49425862-G-A c.12626C>T p.P4209L Missense 40/55 - 4
12-49425862-G-T c.12626C>A p.P4209Q Missense 40/55 - 2
12-49425864-GGT-G c.12623_12624del p.N4208Tfs*125 Frameshift 40/55 - 1
12-49425865-T-G c.12623A>C p.N4208T Missense 40/55 - 3
12-49425866-T-TA c.12621_12622insT p.N4208* Nonsense 40/55 - 1
12-49425868-T-C c.12620A>G p.K4207R Missense 40/55 - 4
12-49425864-GT-G c.12623del p.N4208Tfs*7 Frameshift 40/55 - 2
12-49425869-T-G c.12619A>C p.K4207Q Missense 40/55 - 1
12-49425870-G-A c.12618C>T p.A4206= Synonymous 40/55 - 1
12-49425870-G-C c.12618C>G p.A4206= Synonymous 40/55 - 1
12-49425870-G-T c.12618C>A p.A4206= Synonymous 40/55 - 1
12-49425871-G-A c.12617C>T p.A4206V Missense 40/55 - 1
12-49425872-C-G c.12616G>C p.A4206P Missense 40/55 - 1
12-49425872-C-T c.12616G>A p.A4206T Missense 40/55 - 1
12-49425875-G-A c.12613C>T p.L4205= Synonymous 40/55 - 1
12-49425876-G-A c.12612C>T p.V4204= Synonymous 40/55 - 1
12-49425877-A-C c.12611T>G p.V4204G Missense 40/55 - 1
12-49425878-C-T c.12610G>A p.V4204I Missense 40/55 - 3
12-49425880-C-G c.12608G>C p.G4203A Missense 40/55 - 1
12-49425881-C-G c.12607G>C p.G4203R Missense 40/55 - 2
12-49425881-C-T c.12607G>A p.G4203R Missense 40/55 - 1
12-49425883-T-A c.12605A>T p.Q4202L Missense 40/55 - 1
12-49425883-T-C c.12605A>G p.Q4202R Missense 40/55 - 2
12-49425883-T-G c.12605A>C p.Q4202P Missense 40/55 - 2
12-49425884-G-A c.12604C>T p.Q4202* Nonsense 40/55 - 4
12-49425886-A-G c.12602T>C p.L4201P Missense 40/55 - 1
12-49425890-G-A c.12598C>T p.Q4200* Nonsense 40/55 - 4
12-49425893-C-A c.12595G>T p.A4199S Missense 40/55 - 1
12-49425893-C-T c.12595G>A p.A4199T Missense 40/55 - 1
12-49425895-C-A c.12593G>T p.R4198L Missense 40/55 - 1
12-49425895-C-T c.12593G>A p.R4198Q Missense 40/55 - 6
12-49425896-G-A c.12592C>T p.R4198* Nonsense 40/55 - 30
12-49425896-G-C c.12592C>G p.R4198G Missense 40/55 - 3
12-49425897-AAG-TTA c.12589_12591delinsTAA p.L4197* Nonsense 40/55 - 1
12-49425898-A-AAGCTGACC c.12589_12590insGGTCAGCT p.L4197Rfs*21 Frameshift 40/55 - 1
12-49425900-C-T c.12588G>A p.Q4196= Synonymous 40/55 - 1
12-49425899-GCTGACCCACCGTAGGCATGATTC-G c.12566_12588del p.G4189Afs*137 Frameshift 40/55 - 1
12-49425901-T-C c.12587A>G p.Q4196R Missense 40/55 - 1
12-49425902-G-A c.12586C>T p.Q4196* Nonsense 40/55 - 3
12-49425903-AC-A c.12584del p.G4195Vfs*20 Frameshift 40/55 - 1
12-49425909-C-A c.12579G>T p.T4193= Synonymous 40/55 - 1
12-49425909-C-G c.12579G>C p.T4193= Synonymous 40/55 - 1
12-49425909-C-T c.12579G>A p.T4193= Synonymous 40/55 - 1
12-49425910-CG-C c.12578del p.T4193Rfs*22 Frameshift 40/55 - 1
12-49425910-G-A c.12578C>T p.T4193M Missense 40/55 - 3
12-49425911-T-C c.12577A>G p.T4193A Missense 40/55 - 3
12-49425913-G-A c.12575C>T p.P4192L Missense 40/55 - 3
12-49425913-G-T c.12575C>A p.P4192H Missense 40/55 - 2
12-49425914-G-A c.12574C>T p.P4192S Missense 40/55 - 1
12-49425914-G-T c.12574C>A p.P4192T Missense 40/55 - 2
12-49425918-G-C c.12570C>G p.I4190M Missense 40/55 - 1
12-49425920-T-A c.12568A>T p.I4190F Missense 40/55 - 2
12-49425920-T-C c.12568A>G p.I4190V Missense 40/55 - 1
12-49425922-C-G c.12566G>C p.G4189A Missense 40/55 - 2
12-49425923-C-A c.12565G>T p.G4189* Nonsense 40/55 - 1
12-49425923-C-T c.12565G>A p.G4189R Missense 40/55 - 2
12-49425925-A-G c.12563T>C p.V4188A Missense 40/55 - 1
12-49425928-C-T c.12560G>A p.G4187E Missense 40/55 - 1
12-49425931-G-A c.12557C>T p.P4186L Missense 40/55 - 3
12-49425934-A-G c.12554T>C p.L4185P Missense 40/55 - 1
12-49425937-C-A c.12551G>T p.G4184V Missense 40/55 - 1
12-49425937-C-T c.12551G>A p.G4184D Missense 40/55 - 1
12-49425939-C-A c.12549G>T p.Q4183H Missense 40/55 - 1
12-49425941-G-A c.12547C>T p.Q4183* Nonsense 40/55 - 1
12-49425943-C-A c.12545G>T p.G4182V Missense 40/55 - 2
12-49425941-G-GC c.12546dup p.Q4183Afs*151 Frameshift 40/55 - 1
12-49425944-C-A c.12544G>T p.G4182W Missense 40/55 - 1
12-49425946-G-C c.12542C>G p.S4181C Missense 40/55 - 1
12-49425949-T-G c.12539A>C p.Q4180P Missense 40/55 - 1
12-49425950-G-A c.12538C>T p.Q4180* Nonsense 40/55 - 2
12-49425949-TG-T c.12538del p.Q4180Sfs*35 Frameshift 40/55 - 1
12-49425953-G-A c.12535C>T p.L4179F Missense 40/55 - 3
12-49425953-G-T c.12535C>A p.L4179I Missense 40/55 - 1
12-49425955-A-G c.12533T>C p.V4178A Missense 40/55 - 2
12-49425956-C-G c.12532G>C p.V4178L Missense 40/55 - 1
12-49425958-G-A c.12530C>T p.P4177L Missense 40/55 - 1
12-49425964-G-A c.12524C>T p.P4175L Missense 40/55 - 2
12-49425964-G-T c.12524C>A p.P4175Q Missense 40/55 - 6
12-49425965-G-A c.12523C>T p.P4175S Missense 40/55 - 1
12-49425965-G-C c.12523C>G p.P4175A Missense 40/55 - 1
12-49425969-G-A c.12519C>T p.P4173= Synonymous 40/55 - 2
12-49425969-G-C c.12519C>G p.P4173= Synonymous 40/55 - 2
12-49425969-G-T c.12519C>A p.P4173= Synonymous 40/55 - 2
12-49425970-G-A c.12518C>T p.P4173L Missense 40/55 - 1
12-49425973-G-A c.12515C>T p.P4172L Missense 40/55 - 1
12-49425974-G-T c.12514C>A p.P4172T Missense 40/55 - 1
12-49425976-T-C c.12512A>G p.Q4171R Missense 40/55 - 1
12-49425978-T-A c.12510A>T p.P4170= Synonymous 40/55 - 1
12-49425978-T-C c.12510A>G p.P4170= Synonymous 40/55 - 27
12-49425978-T-G c.12510A>C p.P4170= Synonymous 40/55 - 1
12-49425979-G-A c.12509C>T p.P4170L Missense 40/55 - 2
12-49425980-G-A c.12508C>T p.P4170S Missense 40/55 - 1
12-49425980-G-T c.12508C>A p.P4170T Missense 40/55 - 2
12-49425982-C-A c.12506G>T p.G4169V Missense 40/55 - 1
12-49425985-G-C c.12503C>G p.T4168R Missense 40/55 - 1
12-49425988-T-C c.12500A>G p.N4167S Missense 40/55 - 1
12-49425994-T-C c.12494A>G p.Q4165R Missense 40/55 - 2
12-49425995-G-A c.12493C>T p.Q4165* Nonsense 40/55 - 4
12-49425996-C-A c.12492G>T p.M4164I Missense 40/55 - 1
12-49426000-G-A c.12488C>T p.P4163L Missense 40/55 - 3
12-49426001-G-A c.12487C>T p.P4163S Missense 40/55 - 1
12-49425994-TGCATGGGCCGCTCTA-T c.12479_12493del p.L4160_M4164del InFrameDeletion 40/55 - 1
12-49426003-C-T c.12485G>A p.R4162Q Missense 40/55 - 8
12-49426002-C-A c.12486G>T p.R4162= Synonymous 40/55 - 1
12-49426002-C-G c.12486G>C p.R4162= Synonymous 40/55 - 1
12-49426002-C-T c.12486G>A p.R4162= Synonymous 40/55 - 1
12-49426004-G-A c.12484C>T p.R4162W Missense 40/55 - 3
12-49426004-G-T c.12484C>A p.R4162= Synonymous 40/55 - 1
12-49426005-C-A c.12483G>T p.E4161D Missense 40/55 - 1
12-49426006-TC-GT c.12481_12482delinsAC p.E4161T Missense 40/55 - 1
12-49426007-C-A c.12481G>T p.E4161* Nonsense 40/55 - 1
12-49426009-A-G c.12479T>C p.L4160P Missense 40/55 - 1
12-49426010-G-C c.12478C>G p.L4160V Missense 40/55 - 2
12-49426013-T-G c.12475A>C p.M4159L Missense 40/55 - 1
12-49426018-TG-GT c.12469_12470delinsAC p.Q4157T Missense 40/55 - 1
12-49426019-G-A c.12469C>T p.Q4157* Nonsense 40/55 - 4
12-49426021-T-C c.12467A>G p.Q4156R Missense 40/55 - 1
12-49426024-G-A c.12464C>T p.P4155L Missense 40/55 - 3
12-49426024-G-T c.12464C>A p.P4155H Missense 40/55 - 1
12-49426025-G-A c.12463C>T p.P4155S Missense 40/55 - 1
12-49426025-G-C c.12463C>G p.P4155A Missense 40/55 - 1
12-49426025-G-T c.12463C>A p.P4155T Missense 40/55 - 3
12-49426021-TG-T c.12466del p.Q4156Nfs*5 Frameshift 40/55 - 1
12-49426027-C-T c.12461G>A p.G4154D Missense 40/55 - 2
12-49426031-G-C c.12457C>G p.L4153V Missense 40/55 - 1
12-49426034-G-A c.12454C>T p.L4152F Missense 40/55 - 1
12-49426035-G-A c.12453C>T p.N4151= Synonymous 40/55 - 1
12-49426035-G-T c.12453C>A p.N4151K Missense 40/55 - 1
12-49426038-C-A c.12450G>T p.Q4150H Missense 40/55 - 2
12-49426038-C-G c.12450G>C p.Q4150H Missense 40/55 - 1
12-49426040-G-A c.12448C>T p.Q4150* Nonsense 40/55 - 2
12-49426042-G-A c.12446C>T p.T4149I Missense 40/55 - 1
12-49426043-T-C c.12445A>G p.T4149A Missense 40/55 - 1
12-49426047-G-A c.12441C>T p.S4147= Synonymous 40/55 - 1
12-49426047-G-C c.12441C>G p.S4147= Synonymous 40/55 - 1
12-49426047-G-T c.12441C>A p.S4147= Synonymous 40/55 - 1
12-49426049-A-G c.12439T>C p.S4147P Missense 40/55 - 1
12-49426049-A-T c.12439T>A p.S4147T Missense 40/55 - 1
12-49426051-C-A c.12437G>T p.G4146V Missense 40/55 - 1
12-49426051-C-G c.12437G>C p.G4146A Missense 40/55 - 1
12-49426055-G-C c.12433C>G p.P4145A Missense 40/55 - 2
12-49426055-G-T c.12433C>A p.P4145T Missense 40/55 - 1
12-49426056-C-A c.12432G>T p.Q4144H Missense 40/55 - 1
12-49426056-C-G c.12432G>C p.Q4144H Missense 40/55 - 1
12-49426058-G-A c.12430C>T p.Q4144* Nonsense 40/55 - 3
12-49426059-A-C c.12429T>G p.D4143E Missense 40/55 - 1
12-49426061-C-CA c.12426_12427insT p.D4143* Nonsense 40/55 - 1
12-49426061-C-T c.12427G>A p.D4143N Missense 40/55 - 1
12-49426063-C-G c.12425G>C p.G4142A Missense 40/55 - 1
12-49426063-C-T c.12425G>A p.G4142E Missense 40/55 - 1
12-49426066-A-G c.12422T>C p.L4141S Missense 40/55 - 2
12-49426069-G-A c.12419C>T p.S4140F Missense 40/55 - 4
12-49426