KMT2D lysine methyltransferase 2D

Annotation transcript: NM_003482.4

2024 unique variant annotations were identified in 642 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-49413486-C-T c.*2077G>A - 3-UTRSNV 55/55 - 2
12-49415572-C-T c.16605G>A p.W5535* Nonsense 55/55 - 1
12-49415580-G-A c.16597C>T p.R5533W Missense 55/55 - 1
12-49415587-C-T c.16590G>A p.W5530* Nonsense 55/55 - 1
12-49415625-C-T c.16552G>A p.D5518N Missense 55/55 - 1
12-49415633-T-C c.16544A>G p.D5515G Missense 55/55 - 1
12-49415640-G-C c.16537C>G p.Q5513E Missense 55/55 - 1
12-49415648-T-C c.16529A>G p.Y5510C Missense 55/55 - 2
12-49415649-A-C c.16528T>G p.Y5510D Missense 55/55 - 2
12-49415845-C-G c.16502G>C p.R5501P Missense 54/55 - 1
12-49415846-G-A c.16501C>T p.R5501* Nonsense 54/55 - 5
12-49415849-G-A c.16498C>T p.R5500W Missense 54/55 - 1
12-49415855-AGAT-A c.16489_16491del p.I5497del InFrameDeletion 54/55 - 2
12-49415870-T-C c.16477A>G p.K5493E Missense 54/55 - 1
12-49415872-TC-T c.16474del p.D5492Tfs*17 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
12-49415891-C-T c.16456G>A p.V5486M Missense 54/55 - 1
12-49415895-CTTCGGCCA-C c.16445_16452del p.V5482Gfs*5 Frameshift 54/55 - 1
12-49415895-CTT-C c.16451_16452del p.E5484Gfs*5 Frameshift 54/55 - 1
12-49415905-C-A c.16442G>T p.C5481F Missense 54/55 - 1
12-49415905-AC-A c.16442del p.C5481Lfs*6 Frameshift 54/55 - 1
12-49416062-C-T c.16412+1G>A - IntronicSNV - 53/54 1
12-49416063-C-A c.16412G>T p.R5471M Missense 53/55 - 1
12-49416070-G-C c.16405C>G p.P5469A Missense 53/55 - 1
12-49416076-C-T c.16399G>A p.G5467S Missense 53/55 - 1
12-49416090-T-C c.16385A>G p.D5462G Missense 53/55 - 1
12-49416091-C-G c.16384G>C p.D5462H Missense 53/55 - 2
12-49416103-C-A c.16372G>T p.E5458* Nonsense 53/55 - 1
12-49416115-G-A c.16360C>T p.R5454* Nonsense 53/55 - 6
12-49416129-C-T c.16346G>A p.G5449D Missense 53/55 - 1
12-49416132-C-T c.16343G>A p.R5448Q Missense 53/55 - 1
12-49416133-G-A c.16342C>T p.R5448* Nonsense 53/55 - 2
12-49416372-C-T c.16338+1G>A - IntronicSNV - 52/54 1
12-49416381-C-T c.16330G>A p.E5444K Missense 52/55 - 1
12-49416391-C-G c.16320G>C p.E5440D Missense 52/55 - 1
12-49416393-C-T c.16318G>A p.E5440K Missense 52/55 - 1
12-49416393-C-A c.16318G>T p.E5440* Nonsense 52/55 - 2
12-49416396-G-A c.16315C>T p.R5439W Missense 52/55 - 1
12-49416399-G-A c.16312C>T p.R5438W Missense 52/55 - 1
12-49416401-T-C c.16310A>G p.N5437S Missense 52/55 - 1
12-49416411-C-T c.16300G>A p.E5434K Missense 52/55 - 1
12-49416416-C-T c.16295G>A p.R5432Q Missense 52/55 - 6
12-49416417-G-A c.16294C>T p.R5432W Missense 52/55 - 8
12-49416417-G-C c.16294C>G p.R5432G Missense 52/55 - 1
12-49416421-G-C c.16290C>G p.I5430M Missense 52/55 - 1
12-49416438-C-T c.16273G>A p.E5425K Missense 52/55 - 4
12-49416444-C-A c.16267G>T p.V5423F Missense 52/55 - 2
12-49416446-A-G c.16265T>C p.M5422T Missense 52/55 - 1
12-49416453-G-A c.16258C>T p.H5420Y Missense 52/55 - 1
12-49416473-G-A c.16238C>T p.A5413V Missense 52/55 - 1
12-49416482-C-T c.16229G>A p.G5410E Missense 52/55 - 1
12-49416497-C-T c.16214G>A p.R5405H Missense 52/55 - 1
12-49416500-G-A c.16211C>T p.S5404F Missense 52/55 - 3
12-49416506-G-A c.16205C>T p.A5402V Missense 52/55 - 1
12-49416527-C-T c.16184G>A p.W5395* Nonsense 52/55 - 1
12-49416546-G-A c.16165C>T p.R5389W Missense 52/55 - 2
12-49416552-G-A c.16159C>T p.Q5387* Nonsense 52/55 - 1
12-49416557-G-A c.16154C>T p.S5385L Missense 52/55 - 1
12-49416588-G-A c.16123C>T p.P5375S Missense 52/55 - 1
12-49416613-GCT-G c.16096_16097del p.S5366Hfs*92 Frameshift 52/55 - 1
12-49416625-CCT-C c.16085_16086del p.K5362Sfs*96 Frameshift 52/55 - 1
12-49416630-A-T c.16081T>A p.S5361T Missense 52/55 - 1
12-49416653-TGG-T c.16056_16057del p.H5353Yfs*9 Frameshift 52/55 - 1
12-49418361-C-T c.16052G>A p.R5351Q Missense 51/55 - 4
12-49418361-C-A c.16052G>T p.R5351L Missense 51/55 - 1
12-49418365-T-A c.16048A>T p.K5350* Nonsense 51/55 - 1
12-49418394-C-T c.16019G>A p.R5340Q Missense 51/55 - 4
12-49418395-G-A c.16018C>T p.R5340* Nonsense 51/55 - 3
12-49418397-G-A c.16016C>T p.A5339V Missense 51/55 - 1
12-49418401-A-G c.16012T>C p.C5338R Missense 51/55 - 1
12-49418436-A-G c.15977T>C p.L5326P Missense 51/55 - 1
12-49418445-C-T c.15968G>A p.R5323H Missense 51/55 - 1
12-49418454-C-T c.15959G>A p.R5320H Missense 51/55 - 1
12-49418485-C-A c.15928G>T p.G5310W Missense 51/55 - 1
12-49418591-A-C c.15921+2T>G - IntronicSNV - 50/54 1
12-49418593-T-TA c.15920_15921insT p.L5308Tfs*37 SpliceDonorInsertion 50/55 - 1
12-49418604-T-C c.15910A>G p.I5304V Missense 50/55 - 1
12-49418645-C-T c.15869G>A p.G5290D Missense 50/55 - 1
12-49418652-G-C c.15862C>G p.L5288V Missense 50/55 - 1
12-49418670-G-A c.15844C>T p.R5282* Nonsense 50/55 - 4
12-49418717-C-T c.15797G>A p.R5266H Missense 50/55 - 2
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 - 1
12-49419628-G-A c.15784+337C>T - IntronicSNV - 49/54 1
12-49419677-G-C c.15784+288C>G - IntronicSNV - 49/54 2
12-49419960-C-G c.15784+5G>C - IntronicSNV - 49/54 1
12-49419977-C-T c.15772G>A p.A5258T Missense 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
12-49419998-C-T c.15751G>A p.E5251K Missense 49/55 - 1
12-49420010-C-A c.15739G>T p.E5247* Nonsense 49/55 - 1
12-49420016-CTT-C c.15731_15732del p.K5244Sfs*13 Frameshift 49/55 - 3
12-49420032-CCGGCCGCCCG-C c.15708_15717del p.N5236Kfs*4 Frameshift 49/55 - 1
12-49420033-G-A c.15716C>T p.P5239L Missense 49/55 - 1
12-49420036-C-T c.15713G>A p.R5238Q Missense 49/55 - 1
12-49420042-T-C c.15707A>G p.N5236S Missense 49/55 - 1
12-49420051-C-A c.15698G>T p.G5233V Missense 49/55 - 1
12-49420064-G-A c.15685C>T p.R5229C 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 - 1
12-49420069-CA-GT c.15679_15680delinsAC p.C5227T Missense 49/55 - 1
12-49420066-TAGC-T c.15680_15682del p.C5227del InFrameDeletion 49/55 - 1
12-49420076-G-A c.15673C>T p.R5225C Missense 49/55 - 2
12-49420078-C-T c.15671G>A p.R5224H Missense 49/55 - 4
12-49420077-A-ACC c.15671_15672insGG p.R5225Vfs*19 Frameshift 49/55 - 1
12-49420081-T-C c.15668A>G p.N5223S Missense 49/55 - 2
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 - 1
12-49420090-C-T c.15659G>A p.R5220H Missense 49/55 - 1
12-49420091-G-A c.15658C>T p.R5220C Missense 49/55 - 1
12-49420100-A-G c.15649T>C p.W5217R Missense 49/55 - 1
12-49420102-T-C c.15647A>G p.Y5216C Missense 49/55 - 1
12-49420108-C-T c.15641G>A p.R5214H Missense 49/55 - 4
12-49420108-C-A c.15641G>T p.R5214L Missense 49/55 - 1
12-49420109-G-A c.15640C>T p.R5214C Missense 49/55 - 4
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 - 1
12-49420113-G-T c.15636C>A p.A5212= Synonymous 49/55 - 1
12-49420113-G-C c.15636C>G p.A5212= Synonymous 49/55 - 1
12-49420113-G-A c.15636C>T p.A5212= Synonymous 49/55 - 1
12-49420135-GAGGGCAGTGGCAC-G c.15602_15614del p.S5201Tfs*38 Frameshift 49/55 - 1
12-49420150-ATGAAAGTCAGCCATCT-A c.15584_15599del p.Q5195Lfs*43 Frameshift 49/55 - 1
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 - 1
12-49420184-C-T c.15565G>A p.G5189R Missense 49/55 - 2
12-49420184-C-G c.15565G>C p.G5189R Missense 49/55 - 1
12-49420191-CG-C c.15558del p.H5186Qfs*57 Frameshift 49/55 - 1
12-49420201-AG-A c.15547del p.V5184Cfs*59 Frameshift 49/55 - 2
12-49420209-C-G c.15540G>C p.V5180= Synonymous 49/55 - 1
12-49420213-C-T c.15536G>A p.R5179H Missense 49/55 - 4
12-49420213-C-G c.15536G>C p.R5179P Missense 49/55 - 1
12-49420214-G-A c.15535C>T p.R5179C Missense 49/55 - 3
12-49420217-A-G c.15532T>C p.F5178L Missense 49/55 - 1
12-49420215-G-T c.15534C>A p.F5178L Missense 49/55 - 1
12-49420215-G-C c.15534C>G p.F5178L Missense 49/55 - 1
12-49420238-G-A c.15511C>T p.R5171W Missense 49/55 - 1
12-49420241-G-A c.15508C>T p.Q5170* Nonsense 49/55 - 1
12-49420264-A-C c.15485T>G p.V5162G Missense 49/55 - 1
12-49420277-C-A c.15472G>T p.E5158* Nonsense 49/55 - 2
12-49420288-C-T c.15461G>A p.R5154Q Missense 49/55 - 7
12-49420285-A-AC c.15463dup p.V5155Gfs*4 Frameshift 49/55 - 1
12-49420291-C-T c.15458G>A p.R5153Q Missense 49/55 - 2
12-49420325-A-G c.15424T>C p.C5142R Missense 49/55 - 1
12-49420341-A-T c.15408T>A p.H5136Q Missense 49/55 - 1
12-49420341-A-C c.15408T>G p.H5136Q Missense 49/55 - 1
12-49420390-C-T c.15359G>A p.R5120H Missense 49/55 - 1
12-49420408-T-C c.15341A>G p.H5114R Missense 49/55 - 1
12-49420411-T-C c.15338A>G p.Y5113C Missense 49/55 - 1
12-49420427-G-A c.15322C>T p.R5108C Missense 49/55 - 1
12-49420433-G-A c.15316C>T p.R5106C Missense 49/55 - 1
12-49420438-C-T c.15311G>A p.C5104Y Missense 49/55 - 1
12-49420439-A-G c.15310T>C p.C5104R Missense 49/55 - 1
12-49420451-C-T c.15298G>A p.A5100T Missense 49/55 - 1
12-49420457-T-G c.15292A>C p.T5098P Missense 49/55 - 1
12-49420460-G-A c.15289C>T p.R5097* Nonsense 49/55 - 3
12-49420463-G-A c.15286C>T p.Q5096* Nonsense 49/55 - 1
12-49420474-C-T c.15275G>A p.C5092Y Missense 49/55 - 1
12-49420492-C-T c.15257G>A p.R5086Q Missense 49/55 - 1
12-49420493-G-A c.15256C>T p.R5086* Nonsense 49/55 - 4
12-49420506-C-A c.15243G>T p.E5081D Missense 49/55 - 1
12-49420514-T-TA c.15234_15235insT p.N5079* Nonsense 49/55 - 1
12-49420510-ACATT-A c.15235_15238del p.N5079Wfs*10 Frameshift 49/55 - 2
12-49420526-C-T c.15223G>A p.G5075R Missense 49/55 - 1
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
12-49420540-T-C c.15209A>G p.Y5070C Missense 49/55 - 1
12-49420545-C-G c.15204G>C p.E5068D Missense 49/55 - 1
12-49420545-C-A c.15204G>T p.E5068D Missense 49/55 - 1
12-49420549-G-A c.15200C>T p.T5067M Missense 49/55 - 1
12-49420552-G-A c.15197C>T p.S5066F Missense 49/55 - 1
12-49420563-A-T c.15186T>A p.C5062* Nonsense 49/55 - 1
12-49420567-T-C c.15182A>G p.N5061S Missense 49/55 - 1
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 - 1
12-49420577-C-T c.15172G>A p.V5058M Missense 49/55 - 1
12-49420606-C-T c.15143G>A p.R5048H Missense 49/55 - 4
12-49420607-G-A c.15142C>T p.R5048C Missense 49/55 - 4
12-49420609-G-A c.15140C>T p.A5047V Missense 49/55 - 2
12-49420614-C-A c.15135G>T p.G5045= Synonymous 49/55 - 1
12-49420614-C-T c.15135G>A p.G5045= Synonymous 49/55 - 1
12-49420614-C-G c.15135G>C 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
12-49420628-C-G c.15121G>C p.G5041R Missense 49/55 - 1
12-49420628-C-T c.15121G>A p.G5041R Missense 49/55 - 1
12-49420631-C-A c.15118G>T p.D5040Y Missense 49/55 - 1
12-49420638-CTCA-C c.15108_15110del p.H5036_E5037delinsQ MultiAAMissense 49/55 - 1
12-49420645-C-T c.15104G>A p.C5035Y Missense 49/55 - 1
12-49420649-A-C c.15100T>G p.F5034V Missense 49/55 - 1
12-49420660-C-T c.15089G>A p.R5030H Missense 49/55 - 1
12-49420661-G-A c.15088C>T p.R5030C Missense 49/55 - 3
12-49420664-T-G c.15085A>C p.M5029L Missense 49/55 - 1
12-49420665-G-C c.15084C>G p.D5028E Missense 49/55 - 1
12-49420669-TC-T c.15080del p.R5027Qfs*24 Frameshift 49/55 - 1
12-49420669-C-T c.15080G>A p.R5027Q Missense 49/55 - 1
12-49420670-G-A c.15079C>T p.R5027* Nonsense 49/55 - 5
12-49420688-G-A c.15061C>T p.R5021* Nonsense 49/55 - 4
12-49420689-CA-C c.15059del p.L5020Cfs*31 Frameshift 49/55 - 1
12-49420727-C-A c.15022G>T p.E5008* Nonsense 49/55 - 1
12-49420730-G-A c.15019C>T p.R5007W Missense 49/55 - 1
12-49420737-C-G c.15012G>C p.E5004D Missense 49/55 - 1
12-49420737-C-A c.15012G>T p.E5004D Missense 49/55 - 1
12-49420744-C-T c.15005G>A p.R5002Q Missense 49/55 - 1
12-49420787-T-A c.14962A>T p.K4988* Nonsense 49/55 - 1
12-49420799-C-CT c.14949dup p.G4984Rfs*23 Frameshift 49/55 - 1
12-49420803-C-T c.14946G>A p.W4982* Nonsense 49/55 - 1
12-49420811-T-A c.14938A>T p.K4980* Nonsense 49/55 - 1
12-49420852-C-T c.14897G>A p.R4966Q Missense 49/55 - 1
12-49420856-C-T c.14893G>A p.A4965T Missense 49/55 - 2
12-49420858-C-T c.14891G>A p.R4964H Missense 49/55 - 1
12-49420871-G-A c.14878C>T p.R4960* Nonsense 49/55 - 2
12-49420876-G-T c.14873C>A p.S4958* Nonsense 49/55 - 1
12-49420876-G-C c.14873C>G p.S4958* Nonsense 49/55 - 1
12-49420883-G-A c.14866C>T p.P4956S Missense 49/55 - 1
12-49420885-G-T c.14864C>A p.S4955Y Missense 49/55 - 1
12-49420889-A-ATGCAAGAGGAAGAGGGCTAGGTACAGGAGGCTCTGCAAGAGGCTCTGTAGGAAGCTCTACAAGAGGCTCTGTAGGAGGGCTTGCAGGGCTAGG c.14859_14860insCCTAGCCCTGCAAGCCCTCCTACAGAGCCTCTTGTAGAGCTTCCTACAGAGCCTCTTGCAGAGCCTCCTGTACCTAGCCCTCTTCCTCTTGCA p.P4923_A4953dup InFrameInsertion 49/55 - 1
12-49420901-G-C c.14848C>G p.L4950V Missense 49/55 - 1
12-49420934-C-T c.14815G>A p.E4939K Missense 49/55 - 2
12-49420936-G-A c.14813C>T p.T4938I Missense 49/55 - 1
12-49420960-AGTAGGGGGACTGG-A c.14777_14789del p.A4926Vfs*65 Frameshift 49/55 - 1
12-49420991-G-C c.14758C>G p.P4920A Missense 49/55 - 1
12-49420995-A-AG c.14753dup p.S4919Ffs*13 Frameshift 49/55 - 1
12-49421002-G-T c.14747C>A p.P4916Q Missense 49/55 - 1
12-49421002-G-A c.14747C>T p.P4916L Missense 49/55 - 1
12-49421003-G-T c.14746C>A p.P4916T Missense 49/55 - 1
12-49421017-G-A c.14732C>T p.P4911L Missense 49/55 - 1
12-49421036-G-A c.14713C>T p.Q4905* Nonsense 49/55 - 1
12-49421039-G-A c.14710C>T p.R4904* Nonsense 49/55 - 5
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 - 1
12-49421090-C-A c.14659G>T p.E4887* Nonsense 49/55 - 1
12-49421585-C-T c.14643+1G>A - IntronicSNV - 48/54 1
12-49421585-C-A c.14643+1G>T - IntronicSNV - 48/54 1
12-49421624-G-T c.14605C>A p.L4869M Missense 48/55 - 1
12-49421648-C-T c.14581G>A p.D4861N Missense 48/55 - 1
12-49421650-A-G c.14579T>C p.F4860S Missense 48/55 - 1
12-49421655-C-T c.14574G>A p.K4858= Synonymous 48/55 - 1
12-49421674-G-GT c.14554dup p.T4852Nfs*4 Frameshift 48/55 - 1
12-49421684-T-G c.14545A>C p.S4849R Missense 48/55 - 1
12-49421790-A-C c.14515+2T>G - IntronicSNV - 47/54 1
12-49421791-C-A c.14515+1G>T - IntronicSNV - 47/54 1
12-49421801-C-A c.14506G>T p.E4836* Nonsense 47/55 - 1
12-49421801-C-G c.14506G>C p.E4836Q Missense 47/55 - 1
12-49421811-C-A c.14496G>T p.K4832N Missense 47/55 - 1
12-49421834-G-A c.14473C>T p.R4825W Missense 47/55 - 1
12-49421836-G-T c.14471C>A p.A4824D Missense 47/55 - 1
12-49421850-G-GC c.14456_14457insG p.F4819Lfs*11 Frameshift 47/55 - 1
12-49421864-A-C c.14443T>G p.Y4815D Missense 47/55 - 1
12-49421894-C-T c.14413G>A p.E4805K Missense 47/55 - 1
12-49421896-G-A c.14411C>T p.A4804V Missense 47/55 - 1
12-49421902-GC-G c.14404del p.A4802Qfs*6 Frameshift 47/55 - 1
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
12-49422094-A-G c.14383-170T>C - IntronicSNV - 46/54 4
12-49422610-C-A c.14382+1G>T - IntronicSNV - 46/54 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 - 1
12-49422613-T-A c.14380A>T p.K4794* Nonsense 46/55 - 1
12-49422616-C-T c.14377G>A p.A4793T Missense 46/55 - 1
12-49422643-ACT-A c.14349_14350del p.V4784Hfs*32 Frameshift 46/55 - 1
12-49422649-C-A c.14344G>T p.V4782L Missense 46/55 - 1
12-49422652-C-A c.14341G>T p.E4781* Nonsense 46/55 - 1
12-49422658-C-A c.14335G>T p.G4779* Nonsense 46/55 - 1
12-49422661-T-TA c.14331_14332insT p.K4778* Nonsense 46/55 - 1
12-49422672-C-T c.14321G>A p.W4774* Nonsense 46/55 - 1
12-49422671-C-T c.14322G>A p.W4774* Nonsense 46/55 - 1
12-49422719-A-G c.14274T>C p.Y4758= Synonymous 46/55 - 1
12-49422724-G-GT c.14268dup p.P4757Tfs*25 Frameshift 46/55 - 1
12-49422846-G-A c.14249C>T p.P4750L Missense 45/55 - 2
12-49422858-C-G c.14237G>C p.R4746P Missense 45/55 - 2
12-49422876-AC-CA c.14218_14219delinsTG p.V4740C Missense 45/55 - 1
12-49422878-A-AG c.14216dup p.V4740Cfs*42 Frameshift 45/55 - 1
12-49422889-C-A c.14206G>T p.A4736S Missense 45/55 - 1
12-49422901-G-A c.14194C>T p.Q4732* Nonsense 45/55 - 1
12-49422902-C-G c.14193G>C p.E4731D Missense 45/55 - 1
12-49422902-C-A c.14193G>T p.E4731D Missense 45/55 - 1
12-49422906-C-T c.14189G>A p.W4730* Nonsense 45/55 - 1
12-49422905-C-T c.14190G>A p.W4730* Nonsense 45/55 - 1
12-49422909-C-T c.14186G>A p.R4729Q Missense 45/55 - 1
12-49422910-G-A c.14185C>T p.R4729W Missense 45/55 - 1
12-49422915-G-T c.14180C>A p.S4727* Nonsense 45/55 - 1
12-49422915-G-C c.14180C>G p.S4727* Nonsense 45/55 - 1
12-49422931-A-G c.14164T>C p.F4722L Missense 45/55 - 1
12-49422929-G-T c.14166C>A p.F4722L Missense 45/55 - 1
12-49422929-G-C c.14166C>G p.F4722L Missense 45/55 - 1
12-49422934-G-A c.14161C>T p.R4721C Missense 45/55 - 1
12-49422950-C-G c.14145G>C p.L4715F Missense 45/55 - 1
12-49422961-C-A c.14134G>T p.E4712* Nonsense 45/55 - 1
12-49422969-G-A c.14126C>T p.S4709L Missense 45/55 - 1
12-49422973-C-T c.14122G>A p.A4708T Missense 45/55 - 2
12-49422971-AGCTGGCACAAT-A c.14113_14123del p.I4705Ffs*4 Frameshift 45/55 - 1
12-49423015-C-G c.14080G>C p.E4694Q Missense 45/55 - 1
12-49423022-TGGGGACCAAAAGTAGACATTTGTTGCTACAGCCCTGCAGACTCCCCTCCCAAATCTAGA-T c.14076-61_14076-3del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion - 44/54 1
12-49423182-A-G c.14075+2T>C - IntronicSNV - 44/54 1
12-49423183-C-T c.14075+1G>A - IntronicSNV - 44/54 1
12-49423200-G-A c.14059C>T p.Q4687* Nonsense 44/55 - 1
12-49423207-AGG-A c.14050_14051del p.P4684Sfs*5 Frameshift 44/55 - 1
12-49423207-AG-A c.14051del p.P4684Lfs*113 Frameshift 44/55 - 1
12-49423217-G-A c.14042C>T p.P4681L Missense 44/55 - 1
12-49423224-C-A c.14035G>T p.A4679S Missense 44/55 - 1
12-49424058-C-T c.13999+5G>A - IntronicSNV - 43/54 1
12-49424062-C-T c.13999+1G>A - IntronicSNV - 43/54 1
12-49424087-G-A c.13975C>T p.R4659W Missense 43/55 - 1
12-49424111-G-A c.13951C>T p.H4651Y Missense 43/55 - 2
12-49424130-TG-T c.13931del p.P4644Hfs*22 Frameshift 43/55 - 1
12-49424138-C-T c.13924G>A p.V4642I Missense 43/55 - 1
12-49424163-C-T c.13899G>A p.S4633= Synonymous 43/55 - 1
12-49424165-A-C c.13897T>G p.S4633A Missense 43/55 - 1
12-49424166-TG-T c.13895del p.P4632Hfs*8 Frameshift 43/55 - 2
12-49424167-GGGGGT-G c.13890_13894del p.P4631Ifs*14 Frameshift 43/55 - 2
12-49424177-T-G c.13885A>C p.T4629P Missense 43/55 - 2
12-49424177-TG-T c.13884del p.T4629Pfs*11 Frameshift 43/55 - 1
12-49424197-G-A c.13865C>T p.P4622L Missense 43/55 - 1
12-49424203-G-A c.13859C>T p.P4620L Missense 43/55 - 1
12-49424213-T-G c.13849A>C p.S4617R 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
12-49424344-G-C c.13839+40C>G - IntronicSNV - 42/54 1
12-49424392-G-A c.13831C>T p.L4611F Missense 42/55 - 1
12-49424422-G-T c.13801C>A p.P4601T Missense 42/55 - 1
12-49424427-G-A c.13796C>T p.A4599V Missense 42/55 - 2
12-49424443-C-G c.13780G>C p.A4594P Missense 42/55 - 3
12-49424445-C-T c.13778G>A p.G4593E Missense 42/55 - 2
12-49424455-G-A c.13768C>T p.Q4590* Nonsense 42/55 - 2
12-49424472-G-T c.13751C>A p.P4584Q Missense 42/55 - 1
12-49424494-CAA-C c.13727_13728del p.F4576Cfs*29 Frameshift 42/55 - 3
12-49424498-G-A c.13725C>T p.L4575= Synonymous 42/55 - 1
12-49424500-G-T c.13723C>A p.L4575I Missense 42/55 - 2
12-49424508-T-C c.13715A>G p.N4572S Missense 42/55 - 1
12-49424512-C-T c.13711G>A p.A4571T Missense 42/55 - 1
12-49424527-C-T c.13696G>A p.E4566K Missense 42/55 - 1
12-49424534-G-A c.13689C>T p.P4563= Synonymous 42/55 - 1
12-49424534-G-C c.13689C>G p.P4563= Synonymous 42/55 - 1
12-49424534-G-T c.13689C>A p.P4563= Synonymous 42/55 - 1
12-49424536-G-A c.13687C>T p.P4563S Missense 42/55 - 1
12-49424587-A-G c.13672-36T>C - IntronicSNV - 41/54 1
12-49424616-G-A c.13671+60C>T - IntronicSNV - 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
12-49424681-T-A c.13666A>T p.K4556* Nonsense 41/55 - 1
12-49424675-CCTGTTTCAG-C c.13663_13671del p.L4555_Q4557del SpliceDonorDeletion 41/55 - 1
12-49424687-TGTTTCAGCA-T c.13652_13660del p.L4551_Q4554delins* MultiAAMissense 41/55 - 3
12-49424695-A-T c.13652T>A p.L4551* Nonsense 41/55 - 1
12-49424697-G-T c.13650C>A p.A4550= Synonymous 41/55 - 1
12-49424697-G-C c.13650C>G p.A4550= Synonymous 41/55 - 1
12-49424697-G-A c.13650C>T p.A4550= Synonymous 41/55 - 1
12-49424696-AG-A c.13650del p.L4551Cfs*2 Frameshift 41/55 - 1
12-49424703-G-A c.13644C>T p.S4548= Synonymous 41/55 - 1
12-49424714-C-A c.13633G>T p.V4545F Missense 41/55 - 1
12-49424729-G-A c.13618C>T p.R4540W Missense 41/55 - 1
12-49424736-C-G c.13611G>C p.K4537N Missense 41/55 - 1
12-49424736-C-A c.13611G>T p.K4537N Missense 41/55 - 1
12-49424741-G-A c.13606C>T p.R4536* Nonsense 41/55 - 3
12-49424750-C-A c.13597G>T p.V4533L Missense 41/55 - 1
12-49424759-C-T c.13588G>A p.D4530N Missense 41/55 - 2
12-49424788-G-A c.13559C>T p.P4520L Missense 41/55 - 1
12-49424816-C-A c.13531G>T p.D4511Y Missense 41/55 - 1
12-49424968-CT-GC c.13519_13520delinsGC p.S4507A Missense 40/55 - 1
12-49424970-G-GA c.13517_13518insT p.S4507Qfs*68 Frameshift 40/55 - 1
12-49424969-TG-T c.13518del p.S4507Afs*12 Frameshift 40/55 - 1
12-49424981-G-A c.13507C>T p.Q4503* Nonsense 40/55 - 1
12-49424994-CCAGCCCAGCCAGCTTGCTGTCAAT-C c.13471_13494del p.I4491_L4498del InFrameDeletion 40/55 - 1
12-49425007-T-G c.13481A>C p.K4494T Missense 40/55 - 1
12-49425008-T-A c.13480A>T p.K4494* Nonsense 40/55 - 1
12-49425023-C-T c.13465G>A p.G4489R Missense 40/55 - 1
12-49425023-C-G c.13465G>C p.G4489R Missense 40/55 - 1
12-49425025-T-C c.13463A>G p.N4488S Missense 40/55 - 1
12-49425025-T-A c.13463A>T p.N4488I Missense 40/55 - 1
12-49425037-C-T c.13451G>A p.R4484Q Missense 40/55 - 1
12-49425038-G-A c.13450C>T p.R4484* Nonsense 40/55 - 7
12-49425055-C-A c.13433G>T p.R4478L Missense 40/55 - 1
12-49425050-AC-A c.13437del p.S4480Pfs*39 Frameshift 40/55 - 1
12-49425071-G-A c.13417C>T p.Q4473* Nonsense 40/55 - 1
12-49425073-AC-TA c.13414_13415delinsTA p.V4472* Nonsense 40/55 - 1
12-49425076-TTC-T c.13410_13411del p.N4471Cfs*15 Frameshift 40/55 - 1
12-49425085-C-T c.13403G>A p.R4468Q Missense 40/55 - 1
12-49425086-G-A c.13402C>T p.R4468W Missense 40/55 - 1
12-49425088-A-T c.13400T>A p.L4467H Missense 40/55 - 1
12-49425113-C-A c.13375G>T p.G4459W Missense 40/55 - 1
12-49425121-G-A c.13367C>T p.S4456L Missense 40/55 - 1
12-49425124-C-A c.13364G>T p.R4455L Missense 40/55 - 1
12-49425124-C-T c.13364G>A p.R4455H Missense 40/55 - 1
12-49425120-TGAGC-T c.13364_13367del p.R4455Qfs*63 Frameshift 40/55 - 1
12-49425133-G-C c.13355C>G p.A4452G Missense 40/55 - 1
12-49425161-G-GT c.13326dup p.P4443Tfs*44 Frameshift 40/55 - 1
12-49425220-G-A c.13268C>T p.P4423L Missense 40/55 - 1
12-49425229-C-T c.13259G>A p.R4420Q Missense 40/55 - 2
12-49425230-G-A c.13258C>T p.R4420W Missense 40/55 - 1
12-49425232-G-A c.13256C>T p.P4419L Missense 40/55 - 1
12-49425254-G-A c.13234C>T p.Q4412* Nonsense 40/55 - 1
12-49425265-G-A c.13223C>T p.P4408L Missense 40/55 - 1
12-49425280-ATT-A c.13207_13208del p.N4403Wfs*6 Frameshift 40/55 - 1
12-49425298-C-A c.13190G>T p.G4397V Missense 40/55 - 2
12-49425323-G-A c.13165C>T p.P4389S Missense 40/55 - 1
12-49425341-G-A c.13147C>T p.L4383= Synonymous 40/55 - 1
12-49425350-G-T c.13138C>A p.P4380T 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
12-49425358-C-T c.13130G>A p.W4377* Nonsense 40/55 - 1
12-49425357-C-T c.13131G>A p.W4377* Nonsense 40/55 - 1
12-49425386-T-C c.13102A>G p.T4368A Missense 40/55 - 1
12-49425398-G-A c.13090C>T p.Q4364* Nonsense 40/55 - 1
12-49425421-C-T c.13067G>A p.G4356E Missense 40/55 - 1
12-49425429-GC-G c.13059del p.P4354Lfs*30 Frameshift 40/55 - 1
12-49425447-CCT-C c.13040_13041del p.Q4347Rfs*24 Frameshift 40/55 - 3
12-49425448-T-C c.13040A>G p.Q4347R Missense 40/55 - 1
12-49425448-CTG-C c.13039_13040del p.Q4347Gfs*24 Frameshift 40/55 - 1
12-49425449-G-A c.13039C>T p.Q4347* Nonsense 40/55 - 1
12-49425473-T-G c.13015A>C p.T4339P Missense 40/55 - 1
12-49425496-G-A c.12992C>T p.P4331L Missense 40/55 - 1
12-49425503-G-A c.12985C>T p.Q4329* Nonsense 40/55 - 1
12-49425533-T-A c.12955A>T p.R4319* Nonsense 40/55 - 1
12-49425534-CTT-C c.12952_12953del p.K4318Efs*15 Frameshift 40/55 - 1
12-49425542-C-A c.12946G>T p.E4316* Nonsense 40/55 - 2
12-49425557-GTGGAGGTGTGGGA-G c.12918_12930del p.P4307Hfs*73 Frameshift 40/55 - 1
12-49425575-C-T c.12913G>A p.V4305I Missense 40/55 - 2
12-49425599-A-G c.12889T>C p.S4297P Missense 40/55 - 1
12-49425621-G-A c.12867C>T p.L4289= Synonymous 40/55 - 1
12-49425625-C-T c.12863G>A p.R4288Q Missense 40/55 - 1
12-49425631-G-T c.12857C>A p.P4286Q Missense 40/55 - 1
12-49425638-G-A c.12850C>T p.Q4284* Nonsense 40/55 - 2
12-49425644-G-A c.12844C>T p.R4282* Nonsense 40/55 - 6
12-49425664-T-C c.12824A>G p.Q4275R Missense 40/55 - 1
12-49425673-C-T c.12815G>A p.G4272D Missense 40/55 - 1
12-49425687-AG-A c.12800del p.P4267Lfs*11 Frameshift 40/55 - 1
12-49425696-C-A c.12792G>T p.G4264= Synonymous 40/55 - 1
12-49425696-C-T c.12792G>A p.G4264= Synonymous 40/55 - 1
12-49425696-C-G c.12792G>C p.G4264= Synonymous 40/55 - 1
12-49425711-G-T c.12777C>A p.C4259* Nonsense 40/55 - 1
12-49425724-C-T c.12764G>A p.G4255D Missense 40/55 - 1
12-49425728-G-A c.12760C>T p.Q4254* Nonsense 40/55 - 1
12-49425758-G-A c.12730C>T p.Q4244* Nonsense 40/55 - 1
12-49425763-G-C c.12725C>G p.P4242R Missense 40/55 - 1
12-49425766-G-C c.12722C>G p.P4241R Missense 40/55 - 1
12-49425770-T-C c.12718A>G p.T4240A Missense 40/55 - 1
12-49425773-G-A c.12715C>T p.Q4239* Nonsense 40/55 - 1
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
12-49425782-C-T c.12706G>A p.A4236T Missense 40/55 - 1
12-49425785-G-A c.12703C>T p.Q4235* Nonsense 40/55 - 1
12-49425786-ACT-A c.12700_12701del p.Q4235Gfs*98 Frameshift 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
12-49425794-G-A c.12694C>T p.Q4232* Nonsense 40/55 - 1
12-49425800-G-A c.12688C>T p.Q4230* Nonsense 40/55 - 2
12-49425802-C-T c.12686G>A p.R4229Q Missense 40/55 - 1
12-49425806-G-C c.12682C>G p.Q4228E Missense 40/55 - 1
12-49425809-TGA-T c.12677_12678del p.L4226Hfs*107 Frameshift 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 - 1
12-49425821-G-A c.12667C>T p.Q4223* Nonsense 40/55 - 1
12-49425824-G-C c.12664C>G p.L4222V Missense 40/55 - 1
12-49425827-G-A c.12661C>T p.Q4221* Nonsense 40/55 - 1
12-49425828-C-CT c.12659dup p.Q4221Afs*113 Frameshift 40/55 - 1
12-49425839-G-A c.12649C>T p.Q4217* Nonsense 40/55 - 1
12-49425853-C-T c.12635G>A p.R4212Q Missense 40/55 - 3
12-49425854-G-A c.12634C>T p.R4212W Missense 40/55 - 1
12-49425858-GC-G c.12630del p.Q4210Hfs*5 Frameshift 40/55 - 1
12-49425865-T-G c.12623A>C p.N4208T Missense 40/55 - 1
12-49425881-C-G c.12607G>C p.G4203R Missense 40/55 - 1
12-49425890-G-A c.12598C>T p.Q4200* Nonsense 40/55 - 1
12-49425893-C-A c.12595G>T p.A4199S Missense 40/55 - 1
12-49425895-C-T c.12593G>A p.R4198Q Missense 40/55 - 2
12-49425896-G-A c.12592C>T p.R4198* Nonsense 40/55 - 7
12-49425897-AAG-TTA c.12589_12591delinsTAA p.L4197* Nonsense 40/55 - 1
12-49425903-AC-A c.12584del p.G4195Vfs*20 Frameshift 40/55 - 1
12-49425922-C-G c.12566G>C p.G4189A Missense 40/55 - 1
12-49425923-C-A c.12565G>T p.G4189* Nonsense 40/55 - 1
12-49425943-C-A c.12545G>T p.G4182V Missense 40/55 - 1
12-49425953-G-A c.12535C>T p.L4179F Missense 40/55 - 1
12-49425964-G-T c.12524C>A p.P4175Q Missense 40/55 - 1
12-49425995-G-A c.12493C>T p.Q4165* Nonsense 40/55 - 1
12-49426000-G-A c.12488C>T p.P4163L Missense 40/55 - 1
12-49426003-C-T c.12485G>A p.R4162Q Missense 40/55 - 2
12-49426024-G-A c.12464C>T p.P4155L Missense 40/55 - 1
12-49426027-C-T c.12461G>A p.G4154D Missense 40/55 - 1
12-49426040-G-A c.12448C>T p.Q4150* Nonsense 40/55 - 1
12-49426049-A-T c.12439T>A p.S4147T Missense 40/55 - 1
12-49426058-G-A c.12430C>T p.Q4144* Nonsense 40/55 - 1
12-49426100-C-T c.12388G>A p.V4130M Missense 40/55 - 1
12-49426120-G-C c.12368C>G p.S4123* Nonsense 40/55 - 1
12-49426136-G-A c.12352C>T p.Q4118* Nonsense 40/55 - 2
12-49426153-CC-AA c.12334_12335delinsTT p.G4112F Missense 40/55 - 2
12-49426159-G-A c.12329C>T p.T4110I Missense 40/55 - 1
12-49426163-G-T c.12325C>A p.H4109N Missense 40/55 - 1
12-49426184-G-A c.12304C>T p.Q4102* Nonsense 40/55 - 1
12-49426186-T-G c.12302A>C p.Q4101P Missense 40/55 - 2
12-49426210-GG-TA c.12277_12278delinsTA p.P4093* Nonsense 40/55 - 1
12-49426214-G-A c.12274C>T p.Q4092* Nonsense 40/55 - 2
12-49426220-G-A c.12268C>T p.Q4090* Nonsense 40/55 - 2
12-49426235-G-A c.12253C>T p.Q4085* Nonsense 40/55 - 1
12-49426253-G-A c.12235C>T p.Q4079* Nonsense 40/55 - 1
12-49426270-G-C c.12218C>G p.S4073* Nonsense 40/55 - 2
12-49426270-G-T c.12218C>A p.S4073* Nonsense 40/55 - 1
12-49426289-G-A c.12199C>T p.P4067S Missense 40/55 - 1
12-49426316-T-C c.12172A>G p.M4058V Missense 40/55 - 1
12-49426323-CA-C c.12165del p.E4056Sfs*10 Frameshift 40/55 - 1
12-49426345-G-A c.12143C>T p.P4048L Missense 40/55 - 2
12-49426355-G-A c.12133C>T p.Q4045* Nonsense 40/55 - 1
12-49426370-C-T c.12118G>A p.G4040R Missense 40/55 - 1
12-49426380-C-G c.12108G>C p.E4036D Missense 40/55 - 1
12-49426380-C-A c.12108G>T p.E4036D Missense 40/55 - 1
12-49426403-C-T c.12085G>A p.V4029I Missense 40/55 - 1
12-49426411-T-C c.12077A>G p.Q4026R Missense 40/55 - 1
12-49426412-G-A c.12076C>T p.Q4026* Nonsense 40/55 - 1
12-49426418-T-C c.12070A>G p.K4024E Missense 40/55 - 1
12-49426423-G-A c.12065C>T p.T4022M Missense 40/55 - 1
12-49426447-G-A c.12041C>T p.A4014V Missense 40/55 - 1
12-49426441-CCCAGGGCT-C c.12039_12046del p.A4014Sfs*23 Frameshift 40/55 - 1
12-49426460-A-G c.12028T>C p.S4010P Missense 40/55 - 2
12-49426463-A-C c.12025T>G p.F4009V Missense 40/55 - 1
12-49426469-G-A c.12019C>T p.Q4007* Nonsense 40/55 - 1
12-49426471-A-C c.12017T>G p.L4006R Missense 40/55 - 2
12-49426511-G-A c.11977C>T p.Q3993* Nonsense 40/55 - 1
12-49426506-TTGC-T c.11979_11981del p.Q3994del InFrameDeletion 40/55 - 1
12-49426528-GGA-G c.11958_11959del p.P3987Sfs*24 Frameshift 40/55 - 1
12-49426543-C-T c.11945G>A p.R3982Q Missense 40/55 - 2
12-49426544-G-A c.11944C>T p.R3982* Nonsense 40/55 - 2
12-49426550-G-A c.11938C>T p.Q3980* Nonsense 40/55 - 1
12-49426551-GT-G c.11936del p.N3979Tfs*43 Frameshift 40/55 - 1
12-49426577-G-T c.11911C>A p.Q3971K Missense 40/55 - 1
12-49426577-TGCTGCTGCTGTTGAA-T c.11897_11911del p.F3966_Q3971delins* MultiAAMissense 40/55 - 1
12-49426582-T-A c.11906A>T p.Q3969L Missense 40/55 - 1
12-49426583-G-A c.11905C>T p.Q3969* Nonsense 40/55 - 1
12-49426575-TTGC-T c.11910_11912del p.Q3974del InFrameDeletion 40/55 - 1
12-49426586-G-A c.11902C>T p.Q3968* Nonsense 40/55 - 1
12-49426595-G-A c.11893C>T p.Q3965* Nonsense 40/55 - 1
12-49426614-T-C c.11874A>G p.Q3958= Synonymous 40/55 - 1
12-49426619-G-A c.11869C>T p.Q3957* Nonsense 40/55 - 1
12-49426624-A-T c.11864T>A p.L3955Q Missense 40/55 - 1
12-49426628-G-A c.11860C>T p.Q3954* Nonsense 40/55 - 1
12-49426636-T-A c.11852A>T p.Q3951L Missense 40/55 - 1
12-49426627-TGCTGTTGCTGCTGTTGAA-T c.11843_11860del p.L3948_Q3953del InFrameDeletion 40/55 - 1
12-49426643-G-A c.11845C>T p.Q3949* Nonsense 40/55 - 1
12-49426651-T-A c.11837A>T p.Q3946L Missense 40/55 - 1
12-49426655-G-A c.11833C>T p.Q3945* Nonsense 40/55 - 1
12-49426664-G-A c.11824C>T p.Q3942* Nonsense 40/55 - 1
12-49426667-G-A c.11821C>T p.Q3941* Nonsense 40/55 - 1
12-49426666-TGAA-T c.11819_11821del p.L3940del InFrameDeletion 40/55 - 1
12-49426673-G-T c.11815C>A p.Q3939K Missense 40/55 - 1
12-49426674-CTGCTGCTGTTGCTGCTGT-C c.11796_11813del p.Q3934_Q3939del InFrameDeletion 40/55 - 1
12-49426679-G-A c.11809C>T p.Q3937* Nonsense 40/55 - 1
12-49426685-G-T c.11803C>A p.Q3935K Missense 40/55 - 1
12-49426688-G-A c.11800C>T p.Q3934* Nonsense 40/55 - 1
12-49426694-G-C c.11794C>G p.Q3932E Missense 40/55 - 1
12-49426734-C-A c.11754G>T p.Q3918H Missense 40/55 - 1
12-49426734-C-G c.11754G>C p.Q3918H Missense 40/55 - 1
12-49426739-G-A c.11749C>T p.Q3917* Nonsense 40/55 - 1
12-49426729-AGCTGCTGCT-A c.11750_11758del p.Q3917_Q3919del InFrameDeletion 40/55 - 1
12-49426729-AGCT-A c.11756_11758del p.Q3919del InFrameDeletion 40/55 - 1
12-49426751-G-C c.11737C>G p.Q3913E Missense 40/55 - 1
12-49426735-TGCTGCTGCTGCTGCTGAAGTTGCTGTTGCTGTTGCA-T c.11717_11752del p.L3906_Q3917del InFrameDeletion 40/55 - 1
12-49426757-G-A c.11731C>T p.Q3911* Nonsense 40/55 - 1
12-49426753-AGTTGCT-A c.11729_11734del p.Q3910_Q3911del InFrameDeletion 40/55 - 3
12-49426771-A-T c.11717T>A p.L3906Q Missense 40/55 - 1
12-49426774-T-A c.11714A>T p.Q3905L Missense 40/55 - 3
12-49426775-G-A c.11713C>T p.Q3905* Nonsense 40/55 - 1
12-49426777-T-A c.11711A>T p.Q3904L Missense 40/55 - 1
12-49426784-G-A c.11704C>T p.Q3902* Nonsense 40/55 - 1
12-49426771-AGCT-A c.11714_11716del p.Q3905del InFrameDeletion 40/55 - 1
12-49426796-G-A c.11692C>T p.Q3898* Nonsense 40/55 - 1
12-49426798-A-T c.11690T>A p.L3897* Nonsense 40/55 - 1
12-49426798-A-C c.11690T>G p.L3897* Nonsense 40/55 - 1
12-49426814-G-A c.11674C>T p.Q3892* Nonsense 40/55 - 3
12-49426825-T-C c.11663A>G p.K3888R Missense 40/55 - 1
12-49426832-G-A c.11656C>T p.Q3886* Nonsense 40/55 - 2
12-49426835-C-A c.11653G>T p.G3885W Missense 40/55 - 1
12-49426840-T-TGAGC c.11647_11648insGCTC p.H3883Rfs*130 Frameshift 40/55 - 2
12-49426850-G-T c.11638C>A p.L3880M Missense 40/55 - 1
12-49426878-C-G c.11610G>C p.M3870I Missense 40/55 - 1
12-49426878-C-T c.11610G>A p.M3870I Missense 40/55 - 1
12-49426878-C-A c.11610G>T p.M3870I Missense 40/55 - 1
12-49426888-T-A c.11600A>T p.Q3867L Missense 40/55 - 2
12-49426888-TG-AC c.11599_11600delinsGT p.Q3867V Missense 40/55 - 1
12-49426889-G-A c.11599C>T p.Q3867* Nonsense 40/55 - 1
12-49426889-G-T c.11599C>A p.Q3867K Missense 40/55 - 1
12-49426889-G-GCTATC c.11598_11599insGATAG p.Q3867Dfs*16 Frameshift 40/55 - 1
12-49426892-G-A c.11596C>T p.Q3866* Nonsense 40/55 - 2
12-49426895-G-A c.11593C>T p.Q3865* Nonsense 40/55 - 1
12-49426896-G-T c.11592C>A p.H3864Q Missense 40/55 - 1
12-49426896-GTGC-G c.11589_11591del p.Q3863del InFrameDeletion 40/55 - 1
12-49426908-C-T c.11580G>A p.Q3860= Synonymous 40/55 - 1
12-49426905-TTGC-T c.11580_11582del p.Q3863del InFrameDeletion 40/55 - 1
12-49426952-C-T c.11536G>A p.G3846S Missense 40/55 - 1
12-49426968-C-CA c.11519dup p.A3841Gfs*171 Frameshift 40/55 - 1
12-49426973-G-A c.11515C>T p.Q3839* Nonsense 40/55 - 1
12-49426972-TG-T c.11515del p.Q3839Sfs*42 Frameshift 40/55 - 1
12-49426983-G-A c.11505C>T p.L3835= Synonymous 40/55 - 1
12-49426993-G-C c.11495C>G p.S3832C Missense 40/55 - 1
12-49427005-A-C c.11483T>G p.L3828R Missense 40/55 - 1
12-49427016-G-T c.11472C>A p.H3824Q Missense 40/55 - 1
12-49427016-G-C c.11472C>G p.H3824Q Missense 40/55 - 1
12-49427022-G-A c.11466C>T p.G3822= Synonymous 40/55 - 1
12-49427022-G-C c.11466C>G p.G3822= Synonymous 40/55 - 1
12-49427022-G-T c.11466C>A p.G3822= Synonymous 40/55 - 1
12-49427027-G-A c.11461C>T p.Q3821* Nonsense 40/55 - 1
12-49427034-C-A c.11454G>T p.L3818F Missense 40/55 - 1
12-49427034-C-G c.11454G>C p.L3818F Missense 40/55 - 1
12-49427038-G-T c.11450C>A p.A3817D Missense 40/55 - 1
12-49427054-G-A c.11434C>T p.Q3812* Nonsense 40/55 - 1
12-49427072-G-A c.11416C>T p.Q3806* Nonsense 40/55 - 1
12-49427102-G-A c.11386C>T p.Q3796* Nonsense 40/55 - 1
12-49427108-G-A c.11380C>T p.P3794S Missense 40/55 - 3
12-49427111-G-A c.11377C>T p.Q3793* Nonsense 40/55 - 2
12-49427108-GTTGAGGGGACAGCTGCTGGACCAGGAGGCC-G c.11350_11379del p.G3784_Q3793del InFrameDeletion 40/55 - 1
12-49427110-TGAG-T c.11375_11377del p.P3792del InFrameDeletion 40/55 - 1
12-49427114-G-A c.11374C>T p.P3792S Missense 40/55 - 1
12-49427112-AG-A c.11375del p.P3792Lfs*38 Frameshift 40/55 - 1
12-49427138-C-A c.11350G>T p.G3784C Missense 40/55 - 1
12-49427168-G-A c.11320C>T p.Q3774* Nonsense 40/55 - 1
12-49427208-AC-A c.11279del p.G3760Vfs*70 Frameshift 40/55 - 1
12-49427213-G-A c.11275C>T p.Q3759* Nonsense 40/55 - 1
12-49427217-C-T c.11271G>A p.Q3757= Synonymous 40/55 - 1
12-49427219-G-A c.11269C>T p.Q3757* Nonsense 40/55 - 1
12-49427225-G-A c.11263C>T p.Q3755* Nonsense 40/55 - 3
12-49427255-G-A c.11233C>T p.Q3745* Nonsense 40/55 - 1
12-49427265-TTG-GTC c.11221_11223delinsGAC p.Q3741D Missense 40/55 - 1
12-49427278-T-C c.11210A>G p.Q3737R Missense 40/55 - 1
12-49427282-G-A c.11206C>T p.Q3736* Nonsense 40/55 - 1
12-49427265-TTGC-T c.11220_11222del p.Q3745del InFrameDeletion 40/55 - 3
12-49427285-G-A c.11203C>T p.Q3735* Nonsense 40/55 - 1
12-49427294-G-A c.11194C>T p.Q3732* Nonsense 40/55 - 1
12-49427307-ACG-CTT c.11179_11181delinsAAG p.R3727K Missense 40/55 - 1
12-49427309-G-A c.11179C>T p.R3727C Missense 40/55 - 1
12-49427314-T-G c.11174A>C p.Q3725P Missense 40/55 - 1
12-49427318-G-A c.11170C>T p.Q3724* Nonsense 40/55 - 1
12-49427330-G-A c.11158C>T p.Q3720* Nonsense 40/55 - 1
12-49427337-C-A c.11151G>T p.Q3717H Missense 40/55 - 1
12-49427337-C-G c.11151G>C p.Q3717H Missense 40/55 - 1
12-49427339-G-A c.11149C>T p.Q3717* Nonsense 40/55 - 1
12-49427347-C-T c.11141G>A p.R3714K Missense 40/55 - 3
12-49427350-G-C c.11138C>G p.S3713* Nonsense 40/55 - 2
12-49427350-G-T c.11138C>A p.S3713* Nonsense 40/55 - 1
12-49427359-C-T c.11129G>A p.G3710E Missense 40/55 - 1
12-49427360-C-T c.11128G>A p.G3710R Missense 40/55 - 2
12-49427366-T-G c.11122A>C p.S3708R Missense 40/55 - 3
12-49427364-G-T c.11124C>A p.S3708R Missense 40/55 - 3
12-49427364-G-C c.11124C>G p.S3708R Missense 40/55 - 3
12-49427368-C-A c.11120G>T p.R3707L Missense 40/55 - 1
12-49427368-C-T c.11120G>A p.R3707Q Missense 40/55 - 1
12-49427369-G-A c.11119C>T p.R3707* Nonsense 40/55 - 3
12-49427373-A-G c.11115T>C p.A3705= Synonymous 40/55 - 1
12-49427393-A-AG c.11094dup p.F3699Lfs*14 Frameshift 40/55 - 1
12-49427394-GC-G c.11093del p.G3698Afs*51 Frameshift 40/55 - 1
12-49427399-C-T c.11089G>A p.G3697R Missense 40/55 - 1
12-49427399-C-G c.11089G>C p.G3697R Missense 40/55 - 1
12-49427416-G-A c.11072C>T p.S3691F Missense 40/55 - 1
12-49427433-A-C c.11055T>G p.H3685Q Missense 40/55 - 1
12-49427441-G-A c.11047C>T p.Q3683* Nonsense 40/55 - 1
12-49427453-G-C c.11035C>G p.Q3679E Missense 40/55 - 1
12-49427460-A-G c.11028T>C p.A3676= Synonymous 40/55 - 1
12-49427470-AG-A c.11017del p.N3674Ifs*75 Frameshift 40/55 - 1
12-49427468-TAAGG-T c.11016_11019del p.F3672Lfs*76 Frameshift 40/55 - 1
12-49427472-G-C c.11016C>G p.F3672L Missense 40/55 - 1
12-49427485-G-A c.11003C>T p.P3668L Missense 40/55 - 1
12-49427500-G-T c.10988C>A p.A3663E Missense 40/55 - 1
12-49427506-C-T c.10982G>A p.G3661D Missense 40/55 - 1
12-49427522-G-A c.10966C>T p.R3656C Missense 40/55 - 1
12-49427545-G-A c.10943C>T p.P3648L Missense 40/55 - 1
12-49427546-G-C c.10942C>G p.P3648A Missense 40/55 - 1
12-49427588-G-A c.10900C>T p.Q3634* Nonsense 40/55 - 1
12-49427590-C-T c.10898G>A p.G3633D Missense 40/55 - 1
12-49427600-T-G c.10888A>C p.K3630Q Missense 40/55 - 1
12-49427612-G-A c.10876C>T p.R3626W Missense 40/55 - 1
12-49427614-G-C c.10874C>G p.P3625R Missense 40/55 - 1
12-49427636-C-G c.10852G>C p.A3618P Missense 40/55 - 1
12-49427647-G-C c.10841C>G p.S3614* Nonsense 40/55 - 1
12-49427652-C-T c.10836G>A p.Q3612= Synonymous 40/55 - 1
12-49427658-C-A c.10830G>T p.Q3610H Missense 40/55 - 1
12-49427662-T-C c.10826A>G p.Q3609R Missense 40/55 - 1
12-49427663-G-A c.10825C>T p.Q3609* Nonsense 40/55 - 1
12-49427655-TTGCTGTTGTTGCTGCTGCTGC-T c.10812_10832del p.Q3606_Q3612del InFrameDeletion 40/55 - 1
12-49427664-TTGCTGC-T c.10818_10823del p.Q3611_Q3612del InFrameDeletion 40/55 - 1
12-49427679-C-T c.10809G>A p.Q3603= Synonymous 40/55 - 1
12-49427664-TTGC-T c.10821_10823del p.Q3612del InFrameDeletion 40/55 - 2
12-49427681-G-A c.10807C>T p.Q3603* Nonsense 40/55 - 1
12-49427684-G-A c.10804C>T p.Q3602* Nonsense 40/55 - 1
12-49427685-T-C c.10803A>G p.Q3601= Synonymous 40/55 - 1
12-49427687-G-T c.10801C>A p.Q3601K Missense 40/55 - 1
12-49427690-G-A c.10798C>T p.Q3600* Nonsense 40/55 - 3
12-49427701-C-A c.10787G>T p.R3596L Missense 40/55 - 1
12-49427714-T-G c.10774A>C p.M3592L Missense 40/55 - 1
12-49427719-T-C c.10769A>G p.N3590S Missense 40/55 - 1
12-49427738-G-A c.10750C>T p.Q3584* Nonsense 40/55 - 1
12-49427743-C-T c.10745G>A p.R3582Q Missense 40/55 - 1
12-49427743-CG-TC c.10744_10745delinsGA p.R3582E Missense 40/55 - 1
12-49427744-G-A c.10744C>T p.R3582W Missense 40/55 - 3
12-49427848-A-T c.10740+2T>A - IntronicSNV - 39/54 2
12-49427849-C-T c.10740+1G>A - IntronicSNV - 39/54 2
12-49427865-C-A c.10725G>T p.Q3575H Missense 39/55 - 3
12-49427865-C-G c.10725G>C p.Q3575H Missense 39/55 - 4
12-49427900-G-C c.10690C>G p.L3564V Missense 39/55 - 3
12-49427904-C-G c.10686G>C p.E3562D Missense 39/55 - 1
12-49427904-C-A c.10686G>T p.E3562D Missense 39/55 - 1
12-49427912-C-T c.10678G>A p.D3560N Missense 39/55 - 1
12-49427917-T-C c.10673A>G p.E3558G Missense 39/55 - 1
12-49427929-C-T c.10661G>A p.R3554H Missense 39/55 - 1
12-49427932-C-A c.10658G>T p.G3553V Missense 39/55 - 2
12-49427931-GC-G c.10658del p.G3553Afs*105 Frameshift 39/55 - 1
12-49427936-CT-G c.10653_10654delinsC p.K3551Nfs*107 Frameshift 39/55 - 1
12-49427950-C-T c.10640G>A p.R3547H Missense 39/55 - 1
12-49427950-C-A c.10640G>T p.R3547L Missense 39/55 - 1
12-49427951-G-A c.10639C>T p.R3547C Missense 39/55 - 1
12-49427954-G-A c.10636C>T p.Q3546* Nonsense 39/55 - 2
12-49427965-A-G c.10625T>C p.L3542P Missense 39/55 - 2
12-49427966-G-C c.10624C>G p.L3542V Missense 39/55 - 1
12-49427964-CAG-C c.10624_10625del p.L3542Vfs*13 Frameshift 39/55 - 1
12-49427969-C-G c.10621G>C p.A3541P Missense 39/55 - 1
12-49427974-C-T c.10616G>A p.R3539Q Missense 39/55 - 1
12-49427975-G-A c.10615C>T p.R3539W Missense 39/55 - 1
12-49427983-C-T c.10607G>A p.R3536H Missense 39/55 - 2
12-49427992-C-T c.10598G>A p.G3533D Missense 39/55 - 1
12-49427995-A-G c.10595T>C p.I3532T Missense 39/55 - 1
12-49428008-G-C c.10582C>G p.L3528V Missense 39/55 - 2
12-49428016-A-G c.10574T>C p.L3525P Missense 39/55 - 1
12-49428035-G-A c.10555C>T p.Q3519* Nonsense 39/55 - 1
12-49428037-TG-GT c.10552_10553delinsAC p.Q3518T Missense 39/55 - 1
12-49428038-G-A c.10552C>T p.Q3518* Nonsense 39/55 - 2
12-49428051-C-T c.10539G>A p.W3513* Nonsense 39/55 - 1
12-49428068-G-A c.10522C>T p.R3508W Missense 39/55 - 2
12-49428194-G-GGGGTAAA c.10505_10506insTTTACCC p.N3503Lfs*4 SpliceDonorInsertion 38/55 - 1
12-49428201-C-A c.10499G>T p.G3500V Missense 38/55 - 1
12-49428211-A-G c.10489T>C p.F3497L Missense 38/55 - 1
12-49428209-A-T c.10491T>A p.F3497L Missense 38/55 - 1
12-49428209-A-C c.10491T>G p.F3497L Missense 38/55 - 1
12-49428208-CA-C c.10491del p.F3497Lfs*5 Frameshift 38/55 - 1
12-49428219-G-T c.10481C>A p.P3494Q Missense 38/55 - 1
12-49428229-G-C c.10471C>G p.R3491G Missense 38/55 - 1
12-49428229-G-A c.10471C>T p.R3491C Missense 38/55 - 1
12-49428241-G-A c.10459C>T p.P3487S Missense 38/55 - 1
12-49428250-C-G c.10450G>C p.A3484P Missense 38/55 - 1
12-49428256-G-A c.10444C>T p.R3482W Missense 38/55 - 1
12-49428372-C-T c.10433G>A p.S3478N Missense 37/55 - 1
12-49428392-C-G c.10413G>C p.Q3471H Missense 37/55 - 1
12-49428396-A-C c.10409T>G p.L3470R Missense 37/55 - 1
12-49428412-C-A c.10393G>T p.G3465* Nonsense 37/55 - 1
12-49428410-TC-T c.10394del p.G3465Dfs*37 Frameshift 37/55 - 1
12-49428419-G-A c.10386C>T p.L3462= Synonymous 37/55 - 1
12-49428434-CAG-C c.10369_10370del p.L3457Afs*10 Frameshift 37/55 - 1
12-49428445-G-A c.10360C>T p.Q3454* Nonsense 37/55 - 2
12-49428594-C-T c.10355+1G>A - IntronicSNV - 36/54 1
12-49428643-T-A c.10307A>T p.K3436M Missense 36/55 - 1
12-49428645-G-C c.10305C>G p.I3435M Missense 36/55 - 1
12-49428652-T-C c.10298A>G p.K3433R Missense 36/55 - 1
12-49428656-A-G c.10294T>C p.L3432= Synonymous 36/55 - 1
12-49428654-C-T c.10296G>A p.L3432= Synonymous 36/55 - 1
12-49428654-CA-C c.10295del p.L3432* Frameshift 36/55 - 1
12-49428686-C-A c.10264G>T p.D3422Y Missense 36/55 - 1
12-49428694-T-C c.10256A>G p.D3419G Missense 36/55 - 3
12-49428695-C-G c.10255G>C p.D3419H Missense 36/55 - 1
12-49428698-C-A c.10252G>T p.E3418* Nonsense 36/55 - 1
12-49428704-C-CA c.10245dup p.A3416Cfs*7 Frameshift 36/55 - 1
12-49430094-C-A c.10231+814G>T - IntronicSNV - 35/54 1
12-49430094-C-T c.10231+814G>A - IntronicSNV - 35/54 1
12-49430906-A-G c.10231+2T>C - IntronicSNV - 35/54 1
12-49430910-TG-T c.10229del p.T3410Kfs*23 Frameshift 35/55 - 1
12-49430914-TC-T c.10225del p.D3409Ifs*24 Frameshift 35/55 - 1
12-49430916-G-T c.10223C>A p.P3408Q Missense 35/55 - 1
12-49430929-T-TA c.10209_10210insT p.N3404* Nonsense 35/55 - 1
12-49430938-G-A c.10201C>T p.Q3401* Nonsense 35/55 - 3
12-49430947-T-C c.10192A>G p.M3398V Missense 35/55 - 3
12-49430961-G-A c.10178C>T p.P3393L Missense 35/55 - 1
12-49430968-T-C c.10171A>G p.M3391V Missense 35/55 - 1
12-49430973-A-G c.10166T>C p.M3389T Missense 35/55 - 1
12-49430974-TG-T c.10164del p.M3389Cfs*3 Frameshift 35/55 - 1
12-49431001-T-TA c.10137_10138insT p.K3380* Nonsense 35/55 - 1
12-49431004-G-A c.10135C>T p.Q3379* Nonsense 35/55 - 1
12-49431013-C-G c.10126G>C p.V3376L Missense 35/55 - 1
12-49431013-C-A c.10126G>T p.V3376L Missense 35/55 - 1
12-49431016-G-A c.10123C>T p.P3375S Missense 35/55 - 1
12-49431030-CT-C c.10109del p.Q3370Rfs*22 Frameshift 35/55 - 1
12-49431038-C-A c.10101G>T p.L3367F Missense 35/55 - 1
12-49431038-C-G c.10101G>C p.L3367F Missense 35/55 - 1
12-49431067-T-C c.10072A>G p.S3358G Missense 35/55 - 1
12-49431094-T-C c.10045A>G p.M3349V Missense 35/55 - 3
12-49431114-C-T c.10025G>A p.R3342H Missense 35/55 - 1
12-49431115-G-A c.10024C>T p.R3342C Missense 35/55 - 1
12-49431142-G-A c.9997C>T p.Q3333* Nonsense 35/55 - 3
12-49431149-C-G c.9990G>C p.M3330I Missense 35/55 - 1
12-49431149-C-A c.9990G>T p.M3330I Missense 35/55 - 1
12-49431149-C-T c.9990G>A p.M3330I Missense 35/55 - 1
12-49431168-C-A c.9971G>T p.G3324V Missense 35/55 - 1
12-49431178-G-A c.9961C>T p.R3321* Nonsense 35/55 - 4
12-49431181-C-T c.9958G>A p.A3320T Missense 35/55 - 4
12-49431186-G-C c.9953C>G p.A3318G Missense 35/55 - 1
12-49431196-G-T c.9943C>A p.L3315M Missense 35/55 - 1
12-49431205-G-A c.9934C>T p.Q3312* Nonsense 35/55 - 1
12-49431259-C-T c.9880G>A p.A3294T Missense 35/55 - 1
12-49431262-G-A c.9877C>T p.Q3293* Nonsense 35/55 - 1
12-49431264-G-A c.9875C>T p.A3292V Missense 35/55 - 1
12-49431265-C-T c.9874G>A p.A3292T Missense 35/55 - 1
12-49431269-G-C c.9870C>G p.G3290= Synonymous 35/55 - 1
12-49431269-G-A c.9870C>T p.G3290= Synonymous 35/55 - 1
12-49431269-G-T c.9870C>A p.G3290= Synonymous 35/55 - 1
12-49431271-C-T c.9868G>A p.G3290S Missense 35/55 - 1
12-49431277-C-CA c.9861dup p.A3288Cfs*13 Frameshift 35/55 - 1
12-49431293-C-A c.9846G>T p.Q3282H Missense 35/55 - 1
12-49431293-C-G c.9846G>C p.Q3282H Missense 35/55 - 1
12-49431298-G-A c.9841C>T p.Q3281* Nonsense 35/55 - 1
12-49431301-G-A c.9838C>T p.Q3280* Nonsense 35/55 - 1
12-49431290-ATGC-A c.9846_9848del p.Q3282del InFrameDeletion 35/55 - 1
12-49431303-T-A c.9836A>T p.Q3279L Missense 35/55 - 1
12-49431307-G-T c.9832C>A p.Q3278K Missense 35/55 - 1
12-49431320-G-C c.9819C>G p.A3273= Synonymous 35/55 - 1
12-49431322-C-A c.9817G>T p.A3273S Missense 35/55 - 1
12-49431324-G-C c.9815C>G p.P3272R Missense 35/55 - 1
12-49431330-A-T c.9809T>A p.L3270* Nonsense 35/55 - 1
12-49431337-C-A c.9802G>T p.A3268S Missense 35/55 - 1
12-49431340-A-G c.9799T>C p.S3267P Missense 35/55 - 1
12-49431346-G-T c.9793C>A p.Q3265K Missense 35/55 - 1
12-49431346-G-A c.9793C>T p.Q3265* Nonsense 35/55 - 1
12-49431349-G-A c.9790C>T p.Q3264* Nonsense 35/55 - 1
12-49431370-T-C c.9769A>G p.K3257E Missense 35/55 - 1
12-49431374-A-G c.9765T>C p.H3255= Synonymous 35/55 - 1
12-49431391-C-T c.9748G>A p.E3250K Missense 35/55 - 1
12-49431400-G-T c.9739C>A p.L3247M Missense 35/55 - 1
12-49431402-GGGTAACT-G c.9731_9737del p.E3244Afs*84 Frameshift 35/55 - 1
12-49431409-TC-T c.9730del p.E3244Sfs*86 Frameshift 35/55 - 1
12-49431430-C-T c.9709G>A p.E3237K Missense 35/55 - 1
12-49431472-GCAAGGTCAAAGCCCCA-G c.9651_9666del p.G3218Lfs*11 Frameshift 35/55 - 1
12-49431501-A-G c.9638T>C p.F3213S Missense 35/55 - 1
12-49431536-C-CA c.9602dup p.S3202Efs*13 Frameshift 35/55 - 1
12-49431541-GGCTGGGGGTCAGCAGGTGA-G c.9579_9597del p.L3195* Frameshift 35/55 - 1
12-49431568-G-A c.9571C>T p.P3191S Missense 35/55 - 1
12-49431571-C-A c.9568G>T p.G3190* Nonsense 35/55 - 1
12-49431592-C-G c.9547G>C p.A3183P Missense 35/55 - 1
12-49431596-CTC-TT c.9541_9543delinsAA p.E3181Kfs*16 Frameshift 35/55 - 1
12-49431636-CATCCGGGTAT-C c.9494_9503del p.D3165Gfs*29 Frameshift 35/55 - 1
12-49431642-G-A c.9497C>T p.T3166I Missense 35/55 - 1
12-49431648-C-T c.9491G>A p.R3164Q Missense 35/55 - 2
12-49431648-C-A c.9491G>T p.R3164L Missense 35/55 - 1
12-49431654-C-T c.9485G>A p.G3162D Missense 35/55 - 1
12-49431655-C-T c.9484G>A p.G3162S Missense 35/55 - 1
12-49431657-A-G c.9482T>C p.M3161T Missense 35/55 - 1
12-49431685-AGGCC-A c.9451_9454del p.G3151Wfs*3 Frameshift 35/55 - 1
12-49431687-C-A c.9452G>T p.G3151V Missense 35/55 - 1
12-49431709-C-T c.9430G>A p.A3144T Missense 35/55 - 1
12-49431719-C-G c.9420G>C p.K3140N Missense 35/55 - 1
12-49431719-C-A c.9420G>T p.K3140N Missense 35/55 - 1
12-49431720-CTTGG-C c.9416_9419del p.P3139Rfs*2 Frameshift 35/55 - 1
12-49431721-T-G c.9418A>C p.K3140Q Missense 35/55 - 1
12-49431743-G-T c.9396C>A p.C3132* Nonsense 35/55 - 1
12-49431754-G-A c.9385C>T p.P3129S Missense 35/55 - 1
12-49431759-C-T c.9380G>A p.R3127H Missense 35/55 - 1
12-49431769-C-T c.9370G>A p.E3124K Missense 35/55 - 1
12-49431778-T-TA c.9360_9361insT p.K3121* Nonsense 35/55 - 1
12-49431790-C-T c.9349G>A p.E3117K Missense 35/55 - 1
12-49431792-G-A c.9347C>T p.P3116L Missense 35/55 - 1
12-49431813-G-T c.9326C>A p.P3109H Missense 35/55 - 1
12-49431815-T-TGTGGGGA c.9323_9324insTCCCCAC p.E3108Dfs*12 Frameshift 35/55 - 1
12-49431831-GC-CA c.9307_9308delinsTG p.A3103C Missense 35/55 - 1
12-49431832-C-T c.9307G>A p.A3103T Missense 35/55 - 1
12-49431833-A-G c.9306T>C p.P3102= Synonymous 35/55 - 1
12-49431833-CA-C c.9306del p.A3103Lfs*16 Frameshift 35/55 - 1
12-49431834-G-A c.9305C>T p.P3102L Missense 35/55 - 1
12-49431838-G-A c.9301C>T p.P3101S Missense 35/55 - 1
12-49431833-A-AG c.9305dup p.A3103Cfs*3 Frameshift 35/55 - 1
12-49431873-AC-A c.9265del p.V3089Wfs*30 Frameshift 35/55 - 1
12-49431873-A-AC c.9265dup p.V3089Gfs*9 Frameshift 35/55 - 1
12-49431880-G-A c.9259C>T p.R3087W Missense 35/55 - 1
12-49431895-G-A c.9244C>T p.R3082W Missense 35/55 - 1
12-49431898-C-T c.9241G>A p.E3081K Missense 35/55 - 1
12-49431907-C-A c.9232G>T p.E3078* Nonsense 35/55 - 1
12-49431910-T-TA c.9228dup p.N3077* Nonsense 35/55 - 1
12-49431927-C-T c.9212G>A p.R3071K Missense 35/55 - 1
12-49431954-T-C c.9185A>G p.K3062R Missense 35/55 - 1
12-49431953-CT-C c.9185del p.K3062Rfs*9 Frameshift 35/55 - 1
12-49431969-A-G c.9170T>C p.L3057P Missense 35/55 - 1
12-49431974-AG-A c.9164del p.P3055Lfs*16 Frameshift 35/55 - 1
12-49431979-C-T c.9160G>A p.D3054N Missense 35/55 - 1
12-49431981-G-C c.9158C>G p.T3053S Missense 35/55 - 1
12-49431983-A-T c.9156T>A p.Y3052* Nonsense 35/55 - 1
12-49431983-A-C c.9156T>G p.Y3052* Nonsense 35/55 - 1
12-49432003-C-T c.9136G>A p.E3046K Missense 35/55 - 1
12-49432015-G-A c.9124C>T p.L3042F Missense 35/55 - 1
12-49432039-TG-T c.9099del p.N3034Mfs*37 Frameshift 35/55 - 1
12-49432045-C-T c.9094G>A p.E3032K Missense 35/55 - 1
12-49432050-T-C c.9089A>G p.N3030S Missense 35/55 - 1
12-49432054-C-A c.9085G>T p.E3029* Nonsense 35/55 - 1
12-49432127-C-T c.9012G>A p.E3004= Synonymous 35/55 - 1
12-49432125-TC-T c.9013del p.D3005Mfs*24 Frameshift 35/55 - 1
12-49432143-G-A c.8996C>T p.A2999V Missense 35/55 - 1
12-49432153-C-T c.8986G>A p.D2996N Missense 35/55 - 1
12-49432165-C-T c.8974G>A p.E2992K Missense 35/55 - 1
12-49432167-G-A c.8972C>T p.P2991L Missense 35/55 - 1
12-49432177-A-T c.8962T>A p.C2988S Missense 35/55 - 1
12-49432176-C-G c.8963G>C p.C2988S Missense 35/55 - 1
12-49432227-G-A c.8912C>T p.T2971I Missense 35/55 - 1
12-49432245-T-C c.8894A>G p.N2965S Missense 35/55 - 1
12-49432272-G-GTCCT c.8866_8867insAGGA p.T2956Kfs*18 Frameshift 35/55 - 1
12-49432282-TG-T c.8856del p.K2953Rfs*51 Frameshift 35/55 - 2
12-49432285-GTGTGGGGTGTT-G c.8844_8854del p.T2949Qfs*20 Frameshift 35/55 - 1
12-49432296-G-T c.8843C>A p.P2948Q Missense 35/55 - 1
12-49432294-TTGGA-T c.8841_8844del p.H2947Qfs*56 Frameshift 35/55 - 1
12-49432305-C-T c.8834G>A p.S2945N Missense 35/55 - 1
12-49432306-T-C c.8833A>G p.S2945G Missense 35/55 - 1
12-49432308-T-C c.8831A>G p.N2944S Missense 35/55 - 1
12-49432313-C-A c.8826G>T p.L2942F Missense 35/55 - 1
12-49432313-C-G c.8826G>C p.L2942F Missense 35/55 - 1
12-49432324-C-A c.8815G>T p.A2939S Missense 35/55 - 1
12-49432326-G-A c.8813C>T p.P2938L Missense 35/55 - 2
12-49432327-G-GT c.8811dup p.P2938Tfs*4 Frameshift 35/55 - 1
12-49432335-G-C c.8804C>G p.S2935* Nonsense 35/55 - 2
12-49432335-G-T c.8804C>A p.S2935* Nonsense 35/55 - 1
12-49432357-C-A c.8782G>T p.G2928C Missense 35/55 - 1
12-49432365-G-A c.8774C>T p.A2925V Missense 35/55 - 5
12-49432372-C-A c.8767G>T p.G2923C Missense 35/55 - 1
12-49432375-G-A c.8764C>T p.R2922W Missense 35/55 - 1
12-49432396-G-A c.8743C>T p.R2915* Nonsense 35/55 - 2
12-49432402-G-A c.8737C>T p.P2913S Missense 35/55 - 2
12-49432408-C-A c.8731G>T p.E2911* Nonsense 35/55 - 1
12-49432408-TC-T c.8731del p.E2911Rfs*32 Frameshift 35/55 - 1
12-49432408-CACTT-C c.8727_8730del p.S2910Rfs*32 Frameshift 35/55 - 1
12-49432433-C-A c.8706G>T p.Q2902H Missense 35/55 - 1
12-49432435-G-A c.8704C>T p.Q2902* Nonsense 35/55 - 1
12-49432442-GC-G c.8696del p.G2899Afs*11 Frameshift 35/55 - 1
12-49432447-G-A c.8692C>T p.Q2898* Nonsense 35/55 - 1
12-49432457-CG-C c.8681del p.P2894Rfs*16 Frameshift 35/55 - 1
12-49432486-G-A c.8653C>T p.Q2885* Nonsense 35/55 - 1
12-49432488-A-AC c.8650dup p.V2884Gfs*28 Frameshift 35/55 - 1
12-49432500-A-G c.8639T>C p.L2880P Missense 35/55 - 1
12-49432507-T-C c.8632A>G p.I2878V Missense 35/55 - 1
12-49432516-C-T c.8623G>A p.A2875T Missense 35/55 - 1
12-49432551-C-T c.8588G>A p.G2863D Missense 35/55 - 1
12-49432560-C-T c.8579G>A p.R2860H Missense 35/55 - 1
12-49432568-A-C c.8571T>G p.I2857M Missense 35/55 - 1
12-49432581-G-T c.8558C>A p.P2853Q Missense 35/55 - 1
12-49432605-AGTTCAGGTCCAGGAGTTGATGGAAAGCGAGCTGACATGGCAAATCGCATGGAGGTTGCT-A c.8475_8533del p.A2826Wfs*21 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 35/55 - 1
12-49432618-G-T c.8521C>A p.P2841T Missense 35/55 - 1
12-49432623-G-T c.8516C>A p.S2839* Nonsense 35/55 - 1
12-49432623-G-C c.8516C>G p.S2839* Nonsense 35/55 - 1
12-49432629-A-G c.8510T>C p.F2837S Missense 35/55 - 1
12-49432633-G-A c.8506C>T p.R2836C Missense 35/55 - 1
12-49432638-G-T c.8501C>A p.S2834* Nonsense 35/55 - 2
12-49432638-G-C c.8501C>G p.S2834* Nonsense 35/55 - 2
12-49432644-G-A c.8495C>T p.A2832V Missense 35/55 - 2
12-49432650-C-T c.8489G>A p.R2830Q Missense 35/55 - 1
12-49432651-G-A c.8488C>T p.R2830* Nonsense 35/55 - 8
12-49432684-G-A c.8455C>T p.Q2819* Nonsense 35/55 - 1
12-49432702-G-A c.8437C>T p.Q2813* Nonsense 35/55 - 1
12-49432705-G-A c.8434C>T p.Q2812* Nonsense 35/55 - 1
12-49432708-G-C c.8431C>G p.Q2811E Missense 35/55 - 2
12-49432722-C-A c.8417G>T p.G2806V Missense 35/55 - 1
12-49432729-A-G c.8410T>C p.Y2804H Missense 35/55 - 1
12-49432737-C-T c.8402G>A p.R2801Q Missense 35/55 - 1
12-49432738-G-A c.8401C>T p.R2801* Nonsense 35/55 - 3
12-49432741-G-A c.8398C>T p.Q2800* Nonsense 35/55 - 1
12-49432743-T-C c.8396A>G p.Y2799C Missense 35/55 - 1
12-49432753-G-A c.8386C>T p.Q2796* Nonsense 35/55 - 1
12-49432757-G-T c.8382C>A p.G2794= Synonymous 35/55 - 1
12-49432760-CTCCT-C c.8376_8379del p.G2793Afs*57 Frameshift 35/55 - 1
12-49432766-C-A c.8373G>T p.L2791= Synonymous 35/55 - 1
12-49432766-C-T c.8373G>A p.L2791= Synonymous 35/55 - 1
12-49432766-C-G c.8373G>C p.L2791= Synonymous 35/55 - 1
12-49432768-G-A c.8371C>T p.L2791= Synonymous 35/55 - 1
12-49432767-AG-GC c.8371_8372delinsGC p.L2791A Missense 35/55 - 2
12-49433004-C-T c.8366+1G>A - IntronicSNV - 34/54 1
12-49433005-C-T c.8366G>A p.R2789Q Missense 34/55 - 1
12-49433005-C-A c.8366G>T p.R2789L Missense 34/55 - 1
12-49433006-G-A c.8365C>T p.R2789W Missense 34/55 - 2
12-49433030-G-T c.8341C>A p.P2781T Missense 34/55 - 1
12-49433060-G-A c.8311C>T p.R2771* Nonsense 34/55 - 4
12-49433070-TA-T c.8301del p.S2768Afs*19 Frameshift 34/55 - 1
12-49433083-G-A c.8288C>T p.P2763L Missense 34/55 - 1
12-49433090-G-T c.8281C>A p.L2761M Missense 34/55 - 1
12-49433220-G-A c.8227C>T p.Q2743* Nonsense 33/55 - 1
12-49433244-C-T c.8203G>A p.G2735S Missense 33/55 - 1
12-49433247-G-A c.8200C>T p.R2734* Nonsense 33/55 - 3
12-49433262-A-G c.8185T>C p.F2729L Missense 33/55 - 1
12-49433260-A-T c.8187T>A p.F2729L Missense 33/55 - 1
12-49433260-A-C c.8187T>G p.F2729L Missense 33/55 - 1
12-49433270-C-A c.8177G>T p.S2726I Missense 33/55 - 1
12-49433282-G-C c.8165C>G p.A2722G Missense 33/55 - 2
12-49433285-C-G c.8162G>C p.G2721A Missense 33/55 - 1
12-49433301-GC-G c.8145del p.P2716Lfs*17 Frameshift 33/55 - 1
12-49433306-CA-C c.8141del p.V2714Gfs*19 Frameshift 33/55 - 2
12-49433309-G-C c.8138C>G p.A2713G Missense 33/55 - 1
12-49433340-C-A c.8107G>T p.E2703* Nonsense 33/55 - 1
12-49433361-G-A c.8086C>T p.Q2696* Nonsense 33/55 - 1
12-49433370-G-A c.8077C>T p.Q2693* Nonsense 33/55 - 1
12-49433388-G-A c.8059C>T p.R2687* Nonsense 33/55 - 6
12-49433394-G-A c.8053C>T p.R2685* Nonsense 33/55 - 3
12-49433495-G-A c.8046+12C>T - IntronicSNV - 32/54 1
12-49433511-C-A c.8042G>T p.R2681L Missense 32/55 - 1
12-49433511-C-T c.8042G>A p.R2681Q Missense 32/55 - 1
12-49433521-C-G c.8032G>C p.E2678Q Missense 32/55 - 1
12-49433527-C-A c.8026G>T p.E2676* Nonsense 32/55 - 1
12-49433547-A-C c.8006T>G p.M2669R Missense 32/55 - 1
12-49433560-G-A c.7993C>T p.Q2665* Nonsense 32/55 - 1
12-49433593-CT-C c.7960del p.S2654Afs*37 Frameshift 32/55 - 1
12-49433599-T-G c.7954A>C p.M2652L Missense 32/55 - 1
12-49433617-C-A c.7936G>T p.E2646* Nonsense 32/55 - 1
12-49433620-G-A c.7933C>T p.R2645* Nonsense 32/55 - 3
12-49433626-CGACAGGA-C c.7920_7926del p.P2641Kfs*48 Frameshift 32/55 - 1
12-49433629-CAGGAG-C c.7919_7923del p.S2640Cfs*13 Frameshift 32/55 - 1
12-49433650-G-A c.7903C>T p.R2635* Nonsense 32/55 - 3
12-49433653-G-A c.7900C>T p.Q2634* Nonsense 32/55 - 2
12-49433655-G-T c.7898C>A p.S2633* Nonsense 32/55 - 1
12-49433655-G-C c.7898C>G p.S2633* Nonsense 32/55 - 2
12-49433655-G-A c.7898C>T p.S2633L Missense 32/55 - 1
12-49433662-C-T c.7891G>A p.G2631R Missense 32/55 - 1
12-49433662-C-G c.7891G>C p.G2631R Missense 32/55 - 1
12-49433667-G-T c.7886C>A p.S2629Y Missense 32/55 - 1
12-49433686-C-T c.7867G>A p.G2623R Missense 32/55 - 1
12-49433689-C-CG c.7863dup p.D2622Rfs*33 Frameshift 32/55 - 1
12-49433695-C-T c.7858G>A p.A2620T Missense 32/55 - 1
12-49433719-G-A c.7834C>T p.P2612S Missense 32/55 - 1
12-49433724-A-G c.7829T>C p.L2610P Missense 32/55 - 4
12-49433745-CT-C c.7808del p.E2603Gfs*88 Frameshift 32/55 - 1
12-49433748-C-G c.7805G>C p.G2602A Missense 32/55 - 1
12-49433784-G-A c.7769C>T p.S2590L Missense 32/55 - 2
12-49433784-G-T c.7769C>A p.S2590* Nonsense 32/55 - 1
12-49433819-TGT-ACA c.7732_7734inv p.T2578C Missense 32/55 - 1
12-49433848-C-T c.7705G>A p.G2569S Missense 32/55 - 2
12-49433850-G-A c.7703C>T p.P2568L Missense 32/55 - 1
12-49433869-TC-T c.7683del p.I2562Sfs*21 Frameshift 32/55 - 1
12-49433883-G-A c.7670C>T p.P2557L Missense 32/55 - 3
12-49433896-G-A c.7657C>T p.Q2553* Nonsense 32/55 - 2
12-49433908-G-C c.7645C>G p.P2549A Missense 32/55 - 1
12-49433911-T-C c.7642A>G p.K2548E Missense 32/55 - 2
12-49433923-C-A c.7630G>T p.E2544* Nonsense 32/55 - 1
12-49433925-C-A c.7628G>T p.G2543V Missense 32/55 - 1
12-49433935-G-A c.7618C>T p.Q2540* Nonsense 32/55 - 1
12-49433943-G-A c.7610C>T p.T2537I Missense 32/55 - 1
12-49433946-A-G c.7607T>C p.F2536S Missense 32/55 - 1
12-49433995-G-A c.7558C>T p.R2520W Missense 32/55 - 1
12-49434010-G-A c.7543C>T p.P2515S Missense 32/55 - 1
12-49434004-T-TG c.7548dup p.N2517Qfs*138 Frameshift 32/55 - 1
12-49434026-CT-C c.7526del p.K2509Rfs*34 Frameshift 32/55 - 1
12-49434037-G-A c.7516C>T p.L2506F Missense 32/55 - 1
12-49434055-C-T c.7498G>A p.A2500T Missense 32/55 - 1
12-49434063-G-A c.7490C>T p.A2497V Missense 32/55 - 1
12-49434064-C-T c.7489G>A p.A2497T Missense 32/55 - 1
12-49434071-G-GA c.7481dup p.A2496Sfs*10 Frameshift 32/55 - 1
12-49434074-C-G c.7479G>T p.G2493= Synonymous 32/55 - 2
12-49434074-C-T c.7479G>A p.G2493= Synonymous 32/55 - 2
12-49434074-C-A c.7479G>T p.G2493= Synonymous 32/55 - 1
12-49434075-C-T c.7478G>A p.G2493E Missense 32/55 - 1
12-49434082-C-A c.7471G>T p.A2491S Missense 32/55 - 1
12-49434090-G-A c.7463C>T p.S2488L Missense 32/55 - 1
12-49434091-A-G c.7462T>C p.S2488P Missense 32/55 - 1
12-49434094-T-C c.7459A>G p.T2487A Missense 32/55 - 1
12-49434105-G-C c.7448C>G p.S2483C Missense 32/55 - 1
12-49434142-G-A c.7411C>T p.R2471* Nonsense 32/55 - 5
12-49434141-CG-C c.7411del p.R2471Dfs*14 Frameshift 32/55 - 1
12-49434145-G-GA c.7407_7408insT p.P2470Sfs*7 Frameshift 32/55 - 1
12-49434153-T-G c.7400A>C p.H2467P Missense 32/55 - 1
12-49434153-T-A c.7400A>T p.H2467L Missense 32/55 - 1
12-49434156-A-G c.7397T>C p.L2466S Missense 32/55 - 1
12-49434163-C-T c.7390G>A p.A2464T Missense 32/55 - 1
12-49434175-G-A c.7378C>T p.R2460C Missense 32/55 - 1
12-49434177-G-T c.7376C>A p.S2459Y Missense 32/55 - 1
12-49434182-AG-A c.7370del p.P2457Lfs*28 Frameshift 32/55 - 1
12-49434195-G-T c.7358C>A p.P2453Q Missense 32/55 - 1
12-49434199-CGAGAA-C c.7350_7354del p.Y2450* Frameshift 32/55 - 1
12-49434227-AG-A c.7325del p.P2442Lfs*43 Frameshift 32/55 - 1
12-49434235-C-T c.7318G>A p.V2440I Missense 32/55 - 2
12-49434240-G-T c.7313C>A p.S2438* Nonsense 32/55 - 1
12-49434240-G-C c.7313C>G p.S2438* Nonsense 32/55 - 1
12-49434264-CAGAGGCCGGGG-C c.7279_7289del p.P2427Vfs*3 Frameshift 32/55 - 1
12-49434263-CAG-C c.7288_7289del p.L2430Vfs*3 Frameshift 32/55 - 1
12-49434270-C-T c.7283G>A p.R2428Q Missense 32/55 - 1
12-49434289-G-A c.7264C>T p.Q2422* Nonsense 32/55 - 1
12-49434301-G-A c.7252C>T p.Q2418* Nonsense 32/55 - 1
12-49434307-G-T c.7246C>A p.Q2416K Missense 32/55 - 1
12-49434307-G-A c.7246C>T p.Q2416* Nonsense 32/55 - 1
12-49434310-G-C c.7243C>G p.P2415A Missense 32/55 - 1
12-49434325-G-A c.7228C>T p.R2410* Nonsense 32/55 - 2
12-49434351-C-T c.7202G>A p.R2401H Missense 32/55 - 1
12-49434352-G-A c.7201C>T p.R2401C Missense 32/55 - 1
12-49434355-G-C c.7198C>G p.P2400A Missense 32/55 - 1
12-49434360-A-G c.7193T>C p.L2398P Missense 32/55 - 1
12-49434384-G-A c.7169C>T p.P2390L Missense 32/55 - 1
12-49434391-G-A c.7162C>T p.Q2388* Nonsense 32/55 - 1
12-49434404-C-A c.7149G>T p.L2383F Missense 32/55 - 1
12-49434404-C-G c.7149G>C p.L2383F Missense 32/55 - 1
12-49434409-G-A c.7144C>T p.P2382S Missense 32/55 - 4
12-49434417-G-A c.7136C>T p.A2379V Missense 32/55 - 1
12-49434423-G-A c.7130C>T p.P2377L Missense 32/55 - 1
12-49434444-C-T c.7109G>A p.R2370H Missense 32/55 - 1
12-49434487-G-A c.7066C>T p.Q2356* Nonsense 32/55 - 2
12-49434491-AG-A c.7061del p.P2354Lfs*30 Frameshift 32/55 - 1
12-49434505-G-A c.7048C>T p.Q2350* Nonsense 32/55 - 2
12-49434516-C-A c.7037G>T p.G2346V Missense 32/55 - 1
12-49434517-C-T c.7036G>A p.G2346S Missense 32/55 - 5
12-49434544-G-A c.7009C>T p.Q2337* Nonsense 32/55 - 1
12-49434552-C-T c.7001G>A p.R2334Q Missense 32/55 - 1
12-49434553-G-GA c.6999dup p.R2334Sfs*43 Frameshift 32/55 - 1
12-49434555-G-A c.6998C>T p.P2333L Missense 32/55 - 1
12-49434583-G-T c.6970C>A p.P2324T Missense 32/55 - 1
12-49434607-G-C c.6946C>G p.L2316V Missense 32/55 - 1
12-49434608-G-C c.6945C>G p.H2315Q Missense 32/55 - 1
12-49434618-G-C c.6935C>G p.S2312* Nonsense 32/55 - 3
12-49434630-T-C c.6923A>G p.D2308G Missense 32/55 - 1
12-49434642-A-G c.6911T>C p.L2304P Missense 32/55 - 1
12-49434652-G-A c.6901C>T p.P2301S Missense 32/55 - 1
12-49434689-C-G c.6864G>C p.K2288N Missense 32/55 - 1
12-49434689-C-A c.6864G>T p.K2288N Missense 32/55 - 1
12-49434696-T-A c.6857A>T p.E2286V Missense 32/55 - 1
12-49434709-G-A c.6844C>T p.R2282W Missense 32/55 - 1
12-49434713-C-G c.6840G>C p.E2280D Missense 32/55 - 1
12-49434713-C-A c.6840G>T p.E2280D Missense 32/55 - 1
12-49434717-C-T c.6836G>A p.G2279E Missense 32/55 - 2
12-49434729-G-A c.6824C>T p.P2275L Missense 32/55 - 1
12-49434732-G-A c.6821C>T p.S2274L Missense 32/55 - 2
12-49434742-G-A c.6811C>T p.P2271S Missense 32/55 - 1
12-49434756-C-T c.6797G>A p.G2266D Missense 32/55 - 1
12-49434766-C-G c.6787G>C p.V2263L Missense 32/55 - 1
12-49434766-C-A c.6787G>T p.V2263L Missense 32/55 - 1
12-49434798-A-T c.6755T>A p.L2252Q Missense 32/55 - 1
12-49434801-G-A c.6752C>T p.S2251L Missense 32/55 - 1
12-49434820-G-C c.6733C>G p.L2245V Missense 32/55 - 2
12-49434823-A-C c.6730T>G p.F2244V Missense 32/55 - 1
12-49434829-C-G c.6724G>C p.D2242H Missense 32/55 - 1
12-49434842-C-A c.6711G>T p.Q2237H Missense 32/55 - 1
12-49434842-C-G c.6711G>C p.Q2237H Missense 32/55 - 1
12-49434850-T-TG c.6702dup p.R2235Qfs*8 Frameshift 32/55 - 1
12-49434858-C-T c.6695G>A p.G2232D Missense 32/55 - 1
12-49434864-G-T c.6689C>A p.P2230Q Missense 32/55 - 1
12-49434871-T-C c.6682A>G p.T2228A Missense 32/55 - 2
12-49434877-A-C c.6676T>G p.F2226V Missense 32/55 - 1
12-49434880-C-CA c.6672_6673insT p.E2225* Nonsense 32/55 - 1
12-49434879-TC-T c.6673del p.E2225Nfs*39 Frameshift 32/55 - 1
12-49434889-G-A c.6664C>T p.Q2222* Nonsense 32/55 - 1
12-49434908-TG-AT c.6644_6645delinsAT p.S2215Y Missense 32/55 - 1
12-49434910-A-T c.6643T>A p.S2215T Missense 32/55 - 2
12-49434913-C-T c.6640G>A p.A2214T Missense 32/55 - 1
12-49434915-C-T c.6638G>A p.G2213D Missense 32/55 - 2
12-49434924-G-A c.6629C>T p.P2210L Missense 32/55 - 1
12-49434933-G-A c.6620C>T p.A2207V Missense 32/55 - 2
12-49434935-A-AG c.6617dup p.A2207Cfs*36 Frameshift 32/55 - 1
12-49434940-C-TT c.6613delinsAA p.A2205Nfs*38 Frameshift 32/55 - 1
12-49434944-C-T c.6609G>A p.T2203= Synonymous 32/55 - 1
12-49434944-C-A c.6609G>T p.T2203= Synonymous 32/55 - 1
12-49434944-C-G c.6609G>C p.T2203= Synonymous 32/55 - 1
12-49434955-G-A c.6598C>T p.P2200S Missense 32/55 - 2
12-49434957-T-G c.6596A>C p.Y2199S Missense 32/55 - 1
12-49434958-TA-T c.6595del p.Y2199Ifs*65 Frameshift 32/55 - 6
12-49434958-A-C c.6595T>G p.Y2199D Missense 32/55 - 1
12-49434975-G-A c.6578C>T p.P2193L Missense 32/55 - 1
12-49434988-A-C c.6565T>G p.F2189V Missense 32/55 - 1
12-49434990-C-T c.6563G>A p.R2188H Missense 32/55 - 1
12-49434991-G-A c.6562C>T p.R2188C Missense 32/55 - 1
12-49434994-G-A c.6559C>T p.P2187S Missense 32/55 - 1
12-49434999-A-G c.6554T>C p.L2185P Missense 32/55 - 1
12-49435005-T-C c.6548A>G p.Y2183C Missense 32/55 - 1
12-49435006-A-T c.6547T>A p.Y2183N Missense 32/55 - 1
12-49435006-A-AG c.6546dup p.Y2183Lfs*19 Frameshift 32/55 - 1
12-49435028-G-A c.6525C>T p.D2175= Synonymous 32/55 - 1
12-49435031-C-A c.6522G>T p.Q2174H Missense 32/55 - 1
12-49435031-C-G c.6522G>C p.Q2174H Missense 32/55 - 1
12-49435032-T-C c.6521A>G p.Q2174R Missense 32/55 - 1
12-49435045-G-C c.6508C>G p.Q2170E Missense 32/55 - 3
12-49435048-C-G c.6505G>C p.A2169P Missense 32/55 - 1
12-49435057-G-A c.6496C>T p.Q2166* Nonsense 32/55 - 1
12-49435075-A-C c.6478T>G p.F2160V Missense 32/55 - 1
12-49435105-ACC-A c.6447_6448del p.V2150Afs*4 Frameshift 32/55 - 1
12-49435113-G-A c.6440C>T p.A2147V Missense 32/55 - 1
12-49435116-G-A c.6437C>T p.P2146L Missense 32/55 - 2
12-49435120-G-A c.6433C>T p.P2145S Missense 32/55 - 1
12-49435138-C-T c.6415G>A p.A2139T Missense 32/55 - 1
12-49435150-A-C c.6403T>G p.L2135V Missense 32/55 - 1
12-49435186-T-G c.6367A>C p.T2123P Missense 32/55 - 1
12-49435197-GC-CG c.6355_6356delinsCG p.A2119R Missense 32/55 - 1
12-49435198-C-CG c.6354dup p.A2119Rfs*36 Frameshift 32/55 - 2
12-49435198-CG-C c.6354del p.A2119Lfs*25 Frameshift 32/55 - 1
12-49435228-G-A c.6325C>T p.Q2109* Nonsense 32/55 - 1
12-49435234-G-T c.6319C>A p.P2107T Missense 32/55 - 1
12-49435229-C-CG c.6323dup p.Q2109Afs*46 Frameshift 32/55 - 1
12-49435237-T-A c.6316A>T p.I2106F Missense 32/55 - 1
12-49435240-G-C c.6313C>G p.R2105G Missense 32/55 - 1
12-49435240-G-T c.6313C>A p.R2105S Missense 32/55 - 1
12-49435254-G-A c.6299C>T p.P2100L Missense 32/55 - 1
12-49435257-C-T c.6296G>A p.R2099Q Missense 32/55 - 1
12-49435258-G-A c.6295C>T p.R2099* Nonsense 32/55 - 1
12-49435269-C-T c.6284G>A p.R2095H Missense 32/55 - 1
12-49435270-G-T c.6283C>A p.R2095S Missense 32/55 - 1
12-49435272-G-A c.6281C>T p.A2094V Missense 32/55 - 1
12-49435275-AT-TA c.6277_6278delinsTA p.I2093* Nonsense 32/55 - 1
12-49435288-T-A c.6265A>T p.K2089* Nonsense 32/55 - 1
12-49435300-T-G c.6253A>C p.N2085H Missense 32/55 - 1
12-49435303-T-A c.6250A>T p.I2084F Missense 32/55 - 1
12-49435455-T-C c.6217A>G p.I2073V Missense 31/55 - 1
12-49435457-C-T c.6215G>A p.R2072H Missense 31/55 - 1
12-49435469-C-A c.6203G>T p.R2068L Missense 31/55 - 1
12-49435469-CG-C c.6202del p.R2068Gfs*26 Frameshift 31/55 - 1
12-49435471-GT-G c.6200del p.N2067Tfs*27 Frameshift 31/55 - 1
12-49435488-G-A c.6184C>T p.Q2062* Nonsense 31/55 - 2
12-49435710-G-C c.6173C>G p.A2058G Missense 30/55 - 1
12-49435715-TG-T c.6168del p.D2056Efs*38 Frameshift 30/55 - 1
12-49435719-G-A c.6164C>T p.A2055V Missense 30/55 - 1
12-49435726-G-A c.6157C>T p.P2053S Missense 30/55 - 1
12-49435737-C-T c.6146G>A p.W2049* Nonsense 30/55 - 1
12-49435736-C-T c.6147G>A p.W2049* Nonsense 30/55 - 1
12-49435760-A-AGTCAGATTGGTCGTCTTATTACCATTTCAACTACTCCGGTT c.6122_6123insAACCGGAGTAGTTGAAATGGTAATAAGACGACCAATCTGAC p.C2042Tfs*13 Frameshift 30/55 - 1
12-49435761-C-T c.6122G>A p.R2041H Missense 30/55 - 2
12-49435763-G-GGCTGGCGACTCCTTCGAGATGGACGCCGTTCGCTGA c.6119_6120insTCAGCGAACGGCGTCCATCTCGAAGGAGTCGCCAGC p.S2040_R2041insQRTASISKESPA InFrameInsertion 30/55 - 1
12-49435768-GA-G c.6115del p.S2039Qfs*8 Frameshift 30/55 - 1
12-49435770-C-T c.6113G>A p.W2038* Nonsense 30/55 - 2
12-49435769-C-T c.6114G>A p.W2038* Nonsense 30/55 - 2
12-49435772-G-C c.6111C>G p.D2037E Missense 30/55 - 2
12-49435874-G-T c.6107C>A p.P2036Q Missense 29/55 - 1
12-49435884-G-A c.6097C>T p.Q2033* Nonsense 29/55 - 1
12-49435898-AAATT-A c.6079_6082del p.N2027Ffs*19 Frameshift 29/55 - 1
12-49435905-T-C c.6076A>G p.I2026V Missense 29/55 - 1
12-49435911-C-T c.6070G>A p.A2024T Missense 29/55 - 1
12-49435922-G-T c.6059C>A p.P2020H Missense 29/55 - 1
12-49435941-G-A c.6040C>T p.Q2014* Nonsense 29/55 - 1
12-49435949-T-A c.6032A>T p.E2011V Missense 29/55 - 1
12-49435967-C-T c.6014G>A p.R2005H Missense 29/55 - 1
12-49435971-G-A c.6010C>T p.Q2004* Nonsense 29/55 - 1
12-49435998-C-A c.5983G>T p.G1995* Nonsense 29/55 - 1
12-49436006-T-C c.5975A>G p.E1992G Missense 29/55 - 1
12-49436042-G-A c.5939C>T p.T1980M Missense 29/55 - 1
12-49436049-C-A c.5932G>T p.G1978C Missense 29/55 - 1
12-49436054-G-A c.5927C>T p.S1976L Missense 29/55 - 1
12-49436058-C-T c.5923G>A p.G1975S Missense 29/55 - 1
12-49436060-G-A c.5921C>T p.T1974M Missense 29/55 - 3
12-49436065-GGGGCTGTC-G c.5908_5915del p.D1970Lfs*20 Frameshift 29/55 - 1
12-49436073-C-T c.5908G>A p.D1970N Missense 29/55 - 1
12-49436088-C-A c.5893G>T p.E1965* Nonsense 29/55 - 1
12-49436090-G-A c.5891C>T p.P1964L Missense 29/55 - 1
12-49436108-C-T c.5873G>A p.R1958H Missense 29/55 - 1
12-49436344-C-T c.5867G>A p.R1956K Missense 28/55 - 1
12-49436359-G-A c.5852C>T p.P1951L Missense 28/55 - 1
12-49436363-GA-G c.5848del p.S1950Pfs*97 Frameshift 28/55 - 1
12-49436365-TG-T c.5845del p.Q1949Sfs*98 Frameshift 28/55 - 1
12-49436409-A-G c.5802T>C p.N1934= Synonymous 28/55 - 1
12-49436411-T-TA c.5799_5800insT p.N1934* Nonsense 28/55 - 1
12-49436527-G-A c.5779C>T p.Q1927* Nonsense 27/55 - 1
12-49436542-G-A c.5764C>T p.Q1922* Nonsense 27/55 - 1
12-49436598-C-T c.5708G>A p.R1903Q Missense 27/55 - 1
12-49436599-G-A c.5707C>T p.R1903* Nonsense 27/55 - 4
12-49436630-C-T c.5676G>A p.Q1892= Synonymous 27/55 - 1
12-49436632-G-A c.5674C>T p.Q1892* Nonsense 27/55 - 2
12-49436724-A-G c.5645-63T>C - IntronicSNV - 26/54 1
12-49436817-A-G c.5644+42T>C - IntronicSNV - 26/54 1
12-49436843-C-T c.5644+16G>A - IntronicSNV - 26/54 1
12-49436857-ACCTT-A c.5642_5644+1del - SpliceDonorDeletion 26/55 - 1
12-49436872-CCTGT-C c.5627_5630del p.D1876Gfs*38 Frameshift 26/55 - 1
12-49436918-TTCTCAGGG-T c.5577_5584del p.D1859Efs*7 Frameshift 26/55 - 1
12-49436922-C-A c.5581G>T p.E1861* Nonsense 26/55 - 1
12-49436924-G-T c.5579C>A p.P1860H Missense 26/55 - 1
12-49436946-C-T c.5557G>A p.A1853T Missense 26/55 - 1
12-49436954-C-T c.5549G>A p.G1850D Missense 26/55 - 2
12-49436953-G-GC c.5549dup p.V1851Rfs*9 Frameshift 26/55 - 1
12-49436962-C-G c.5541G>C p.E1847D Missense 26/55 - 1
12-49436962-C-A c.5541G>T p.E1847D Missense 26/55 - 1
12-49437145-C-T c.5533+1G>A - IntronicSNV - 25/54 1
12-49437149-GTGTATCGGCTT-G c.5519_5529del p.K1840Tfs*4 Frameshift 25/55 - 1
12-49437155-C-T c.5524G>A p.D1842N Missense 25/55 - 1
12-49437161-T-TA c.5517_5518insT p.K1840* Nonsense 25/55 - 1
12-49437175-C-CG c.5503dup p.R1835Pfs*13 Frameshift 25/55 - 1
12-49437181-T-C c.5498A>G p.E1833G Missense 25/55 - 1
12-49437183-T-G c.5496A>C p.E1832D Missense 25/55 - 1
12-49437183-T-A c.5496A>T p.E1832D Missense 25/55 - 1
12-49437202-C-A c.5477G>T p.G1826V Missense 25/55 - 1
12-49437203-C-T c.5476G>A p.G1826S Missense 25/55 - 1
12-49437209-C-A c.5470G>T p.D1824Y Missense 25/55 - 1
12-49437230-C-G c.5468-19G>C - IntronicSNV - 24/54 1
12-49437230-C-T c.5468-19G>A - IntronicSNV - 24/54 1
12-49437418-C-A c.5467G>T p.G1823* Nonsense 24/55 - 1
12-49437445-T-C c.5440A>G p.R1814G Missense 24/55 - 1
12-49437443-CCTTT-C c.5438_5441del p.E1813Gfs*38 Frameshift 24/55 - 1
12-49437475-G-A c.5410C>T p.P1804S Missense 24/55 - 1
12-49437478-T-C c.5407A>G p.T1803A Missense 24/55 - 1
12-49437491-G-C c.5394C>G p.S1798R Missense 24/55 - 1
12-49437491-G-T c.5394C>A p.S1798R Missense 24/55 - 1
12-49437493-T-G c.5392A>C p.S1798R Missense 24/55 - 1
12-49437494-TG-AT c.5390_5391delinsAT p.P1797H Missense 24/55 - 1
12-49437499-G-A c.5386C>T p.R1796W Missense 24/55 - 1
12-49437523-C-T c.5362G>A p.A1788T Missense 24/55 - 1
12-49437548-C-G c.5337G>C p.K1779N Missense 24/55 - 1
12-49437548-C-A c.5337G>T p.K1779N Missense 24/55 - 1
12-49437650-C-A c.5319+1G>T - IntronicSNV - 23/54 1
12-49437653-G-A c.5317C>T p.Q1773* Nonsense 23/55 - 1
12-49437657-G-T c.5313C>A p.Y1771* Nonsense 23/55 - 1
12-49437663-AG-A c.5306del p.P1769Lfs*16 Frameshift 23/55 - 1
12-49437691-CTT-C c.5278_5279del p.K1760Efs*27 Frameshift 23/55 - 1
12-49437699-T-TGCCACAGA c.5270_5271insTCTGTGGC p.G1758Lfs*30 Frameshift 23/55 - 1
12-49437701-G-A c.5269C>T p.R1757* Nonsense 23/55 - 5
12-49437703-C-T c.5267G>A p.R1756Q Missense 23/55 - 1
12-49437703-C-CG c.5266dup p.R1756Pfs*32 Frameshift 23/55 - 1
12-49437707-G-A c.5263C>T p.Q1755* Nonsense 23/55 - 1
12-49437712-TTC-T c.5256_5257del p.K1753Afs*34 Frameshift 23/55 - 1
12-49437716-T-TA c.5253_5254insT p.K1752* Nonsense 23/55 - 1
12-49437723-A-C c.5247T>G p.D1749E Missense 23/55 - 1
12-49437723-A-T c.5247T>A p.D1749E Missense 23/55 - 1
12-49437735-CT-C c.5235del p.A1746Lfs*39 Frameshift 23/55 - 2
12-49437758-C-A c.5212G>T p.E1738* Nonsense 23/55 - 2
12-49437897-G-A c.5188+86C>T - IntronicSNV - 22/54 1
12-49437984-C-G c.5187G>C p.E1729D Missense 22/55 - 1
12-49437984-C-A c.5187G>T p.E1729D Missense 22/55 - 1
12-49437986-C-T c.5185G>A p.E1729K Missense 22/55 - 1
12-49438005-CA-C c.5166del p.S1722Rfs*9 Frameshift 22/55 - 3
12-49438007-T-TA c.5163_5164insT p.S1722* Nonsense 22/55 - 1
12-49438011-C-T c.5160G>A p.V1720= Synonymous 22/55 - 1
12-49438013-C-G c.5158G>C p.V1720L Missense 22/55 - 1
12-49438021-T-A c.5150A>T p.Q1717L Missense 22/55 - 1
12-49438024-TGCAGCAGGC-T c.5139_5147del p.P1714_A1716del InFrameDeletion 22/55 - 1
12-49438031-G-A c.5140C>T p.P1714S Missense 22/55 - 1
12-49438031-GCC-G c.5138_5139del p.G1713Afs*21 Frameshift 22/55 - 1
12-49438031-GC-G c.5139del p.P1714Lfs*8 Frameshift 22/55 - 1
12-49438035-CT-C c.5135del p.K1712Rfs*10 Frameshift 22/55 - 2
12-49438040-T-A c.5131A>T p.K1711* Nonsense 22/55 - 1
12-49438035-C-CT c.5135dup p.P1714Afs*21 Frameshift 22/55 - 1
12-49438042-G-T c.5129C>A p.T1710K Missense 22/55 - 1
12-49438042-G-A c.5129C>T p.T1710M Missense 22/55 - 1
12-49438046-G-GT c.5124dup p.R1709Tfs*26 Frameshift 22/55 - 1
12-49438049-T-C c.5122A>G p.T1708A Missense 22/55 - 1
12-49438047-TGTGTGGGATTTCC-T c.5111_5123del p.R1704Hfs*14 Frameshift 22/55 - 1
12-49438045-CGT-C c.5124_5125del p.R1709Hfs*25 Frameshift 22/55 - 3
12-49438051-GT-G c.5120del p.H1707Pfs*15 Frameshift 22/55 - 1
12-49438054-G-A c.5117C>T p.S1706F Missense 22/55 - 1
12-49438060-C-T c.5111G>A p.R1704Q Missense 22/55 - 1
12-49438064-G-A c.5107C>T p.Q1703* Nonsense 22/55 - 1
12-49438067-G-A c.5104C>T p.R1702* Nonsense 22/55 - 2
12-49438186-C-G c.5083G>C p.G1695R Missense 21/55 - 1
12-49438186-C-A c.5083G>T p.G1695C Missense 21/55 - 1
12-49438192-G-A c.5077C>T p.R1693W Missense 21/55 - 1
12-49438193-A-C c.5076T>G p.Y1692* Nonsense 21/55 - 1
12-49438203-C-A c.5066G>T p.R1689L Missense 21/55 - 1
12-49438205-C-T c.5064G>A p.K1688= Synonymous 21/55 - 1
12-49438220-T-G c.5049A>C p.E1683D Missense 21/55 - 1
12-49438243-G-C c.5026C>G p.P1676A Missense 21/55 - 1
12-49438248-CA-C c.5021del p.V1674Gfs*48 Frameshift 21/55 - 1
12-49438252-C-T c.5017G>A p.D1673N Missense 21/55 - 1
12-49438255-G-C c.5014C>G p.P1672A Missense 21/55 - 1
12-49438261-C-T c.5008G>A p.V1670I Missense 21/55 - 1
12-49438277-A-C c.4992T>G p.I1664M Missense 21/55 - 1
12-49438282-C-T c.4987G>A p.E1663K Missense 21/55 - 1
12-49438284-C-A c.4985G>T p.C1662F Missense 21/55 - 1
12-49438285-A-C c.4984T>G p.C1662G Missense 21/55 - 1
12-49438287-TC-T c.4981del p.E1661Sfs*61 Frameshift 21/55 - 1
12-49438533-C-A c.4957G>T p.G1653C Missense 20/55 - 1
12-49438548-C-T c.4942G>A p.D1648N Missense 20/55 - 3
12-49438579-A-C c.4911T>G p.P1637= Synonymous 20/55 - 1
12-49438579-A-T c.4911T>A p.P1637= Synonymous 20/55 - 1
12-49438579-A-G c.4911T>C p.P1637= Synonymous 20/55 - 1
12-49438595-G-T c.4895C>A p.S1632* Nonsense 20/55 - 1
12-49438595-G-C c.4895C>G p.S1632* Nonsense 20/55 - 1
12-49438602-C-A c.4888G>T p.E1630* Nonsense 20/55 - 1
12-49438623-C-T c.4867G>A p.E1623K Missense 20/55 - 1
12-49438624-G-A c.4866C>T p.G1622= Synonymous 20/55 - 1
12-49438632-G-T c.4858C>A p.L1620I Missense 20/55 - 1
12-49438632-G-A c.4858C>T p.L1620F Missense 20/55 - 1
12-49438640-C-T c.4850G>A p.R1617Q Missense 20/55 - 1
12-49438646-C-T c.4844G>A p.R1615Q Missense 20/55 - 1
12-49438647-G-A c.4843C>T p.R1615* Nonsense 20/55 - 2
12-49438649-C-T c.4841G>A p.R1614Q Missense 20/55 - 1
12-49438650-G-A c.4840C>T p.R1614W Missense 20/55 - 2
12-49438658-C-T c.4832G>A p.R1611Q Missense 20/55 - 1
12-49438689-G-A c.4801C>T p.R1601C Missense 20/55 - 1
12-49438728-C-T c.4762G>A p.E1588K Missense 20/55 - 1
12-49438728-C-A c.4762G>T p.E1588* Nonsense 20/55 - 1
12-49438745-G-C c.4745C>G p.P1582R Missense 20/55 - 1
12-49439376-A-G c.4741+327T>C - IntronicSNV - 19/54 1
12-49439702-C-G c.4741+1G>C - IntronicSNV - 19/54 1
12-49439705-G-T c.4739C>A p.P1580Q Missense 19/55 - 1
12-49439719-C-CA c.4724dup p.M1575Ifs*28 Frameshift 19/55 - 1
12-49439738-G-T c.4706C>A p.P1569H Missense 19/55 - 1
12-49439738-G-A c.4706C>T p.P1569L Missense 19/55 - 1
12-49439847-C-T c.4693+1G>A - IntronicSNV - 18/54 1
12-49439859-A-C c.4682T>G p.V1561G Missense 18/55 - 4
12-49439861-C-A c.4680G>T p.V1560= Synonymous 18/55 - 1
12-49439863-C-T c.4678G>A p.V1560M Missense 18/55 - 1
12-49439877-G-A c.4664C>T p.S1555F Missense 18/55 - 2
12-49439896-C-T c.4645G>A p.E1549K Missense 18/55 - 1
12-49439899-C-T c.4642G>A p.D1548N Missense 18/55 - 1
12-49439908-G-A c.4633C>T p.Q1545* Nonsense 18/55 - 1
12-49439905-CCTGCTCCACATCGTCCT-C c.4619_4635del p.E1540Gfs*4 Frameshift 18/55 - 1
12-49439911-C-T c.4630G>A p.E1544K Missense 18/55 - 1
12-49439923-C-T c.4618G>A p.E1540K Missense 18/55 - 2
12-49439935-T-C c.4606A>G p.S1536G Missense 18/55 - 1
12-49439940-C-T c.4601G>A p.C1534Y Missense 18/55 - 1
12-49439953-T-C c.4588A>G p.M1530V Missense 18/55 - 1
12-49439955-C-T c.4586G>A p.W1529* Nonsense 18/55 - 1
12-49439955-CA-GC c.4585_4586delinsGC p.W1529A Missense 18/55 - 2
12-49440043-C-A c.4583G>T p.R1528L Missense 17/55 - 1
12-49440052-GT-G c.4574del p.H1525Pfs*37 Frameshift 17/55 - 1
12-49440052-TG-GC c.4573_4574delinsGC p.H1525A Missense 17/55 - 1
12-49440055-C-T c.4571G>A p.R1524H Missense 17/55 - 1
12-49440059-A-C c.4567T>G p.C1523G Missense 17/55 - 1
12-49440061-T-C c.4565A>G p.Q1522R Missense 17/55 - 1
12-49440068-G-T c.4558C>A p.L1520I Missense 17/55 - 1
12-49440071-G-C c.4555C>G p.L1519V Missense 17/55 - 1
12-49440073-T-G c.4553A>C p.D1518A Missense 17/55 - 2
12-49440076-T-C c.4550A>G p.E1517G Missense 17/55 - 1
12-49440079-T-G c.4547A>C p.E1516A Missense 17/55 - 1
12-49440083-C-T c.4543G>A p.V1515I Missense 17/55 - 1
12-49440092-C-T c.4534G>A p.A1512T Missense 17/55 - 1
12-49440101-T-C c.4525A>G p.I1509V Missense 17/55 - 1
12-49440115-AG-TC c.4510_4511delinsGA p.L1504E Missense 17/55 - 1
12-49440118-CTGGCACAGGGCCCACAGTG-C c.4489_4507del p.H1497Afs*3 Frameshift 17/55 - 1
12-49440125-A-T c.4501T>A p.C1501S Missense 17/55 - 1
12-49440124-C-G c.4502G>C p.C1501S Missense 17/55 - 1
12-49440139-G-A c.4487C>T p.T1496I Missense 17/55 - 1
12-49440141-G-T c.4485C>A p.Y1495* Nonsense 17/55 - 2
12-49440142-T-G c.4484A>C p.Y1495S Missense 17/55 - 1
12-49440148-T-C c.4478A>G p.N1493S Missense 17/55 - 1
12-49440152-G-A c.4474C>T p.Q1492* Nonsense 17/55 - 2
12-49440154-C-T c.4472G>A p.W1491* Nonsense 17/55 - 1
12-49440153-C-T c.4473G>A p.W1491* Nonsense 17/55 - 1
12-49440169-C-T c.4457G>A p.G1486D Missense 17/55 - 1
12-49440181-GC-G c.4444del p.A1482Lfs*24 Frameshift 17/55 - 1
12-49440199-G-C c.4427C>G p.S1476C Missense 17/55 - 1
12-49440207-C-T c.4419G>A p.W1473* Nonsense 17/55 - 1
12-49440393-A-T c.4417T>A p.W1473R Missense 16/55 - 1
12-49440393-A-G c.4417T>C p.W1473R Missense 16/55 - 1
12-49440398-C-T c.4412G>A p.C1471Y Missense 16/55 - 5
12-49440409-G-A c.4401C>T p.G1467= Synonymous 16/55 - 1
12-49440409-G-C c.4401C>G p.G1467= Synonymous 16/55 - 1
12-49440409-G-T c.4401C>A p.G1467= Synonymous 16/55 - 1
12-49440414-T-A c.4396A>T p.K1466* Nonsense 16/55 - 1
12-49440414-T-TG c.4395dup p.K1466Qfs*25 Frameshift 16/55 - 2
12-49440429-G-GT c.4380dup p.L1461Tfs*30 Frameshift 16/55 - 1
12-49440430-T-TG c.4379dup p.L1461Tfs*30 Frameshift 16/55 - 1
12-49440442-G-T c.4368C>A p.C1456* Nonsense 16/55 - 1
12-49440443-C-CA c.4366dup p.C1456Lfs*35 Frameshift 16/55 - 1
12-49440446-T-A c.4364A>T p.Y1455F Missense 16/55 - 1
12-49440452-T-C c.4358A>G p.H1453R Missense 16/55 - 1
12-49440453-G-T c.4357C>A p.H1453N Missense 16/55 - 1
12-49440462-T-A c.4348A>T p.I1450F Missense 16/55 - 1
12-49440462-T-C c.4348A>G p.I1450V Missense 16/55 - 1
12-49440464-T-C c.4346A>G p.D1449G Missense 16/55 - 1
12-49440467-C-T c.4343G>A p.C1448Y Missense 16/55 - 2
12-49440491-G-T c.4319C>A p.S1440* Nonsense 16/55 - 1
12-49440498-C-T c.4312G>A p.D1438N Missense 16/55 - 1
12-49440509-C-T c.4301G>A p.G1434D Missense 16/55 - 1
12-49440522-A-G c.4288T>C p.C1430R Missense 16/55 - 5
12-49440527-A-G c.4283T>C p.I1428T Missense 16/55 - 1
12-49440529-A-T c.4281T>A p.C1427* Nonsense 16/55 - 1
12-49440530-C-T c.4280G>A p.C1427Y Missense 16/55 - 1
12-49440539-C-G c.4271G>C p.C1424S Missense 16/55 - 3
12-49440539-C-A c.4271G>T p.C1424F Missense 16/55 - 2
12-49440542-C-T c.4268G>A p.R1423H Missense 16/55 - 2
12-49440545-C-T c.4265G>A p.W1422* Nonsense 16/55 - 1
12-49440545-C-G c.4265G>C p.W1422S Missense 16/55 - 1
12-49440558-G-T c.4252C>A p.L1418M Missense 16/55 - 1
12-49440561-T-C c.4249A>G p.M1417V Missense 16/55 - 1
12-49440564-C-T c.4246G>A p.V1416M Missense 16/55 - 1
12-49441748-C-T c.4236G>A p.K1412= Synonymous 15/55 - 1
12-49441762-A-C c.4222T>G p.C1408G Missense 15/55 - 1
12-49441764-TA-T c.4219del p.Y1407Tfs*10 Frameshift 15/55 - 1
12-49441773-T-C c.4211A>G p.Y1404C Missense 15/55 - 1
12-49441774-A-C c.4210T>G p.Y1404D Missense 15/55 - 1
12-49441780-G-A c.4204C>T p.Q1402* Nonsense 15/55 - 1
12-49441789-G-A c.4195C>T p.Q1399* Nonsense 15/55 - 1
12-49441804-G-T c.4180C>A p.L1394I Missense 15/55 - 1
12-49441813-C-T c.4171G>A p.E1391K Missense 15/55 - 2
12-49441815-G-GT c.4168_4169insA p.A1390Dfs*42 Frameshift 15/55 - 1
12-49441815-G-GC c.4168dup p.A1390Gfs*42 Frameshift 15/55 - 4
12-49441821-C-A c.4163G>T p.R1388L Missense 15/55 - 1
12-49441815-GC-G c.4168del p.A1390Qfs*27 Frameshift 15/55 - 1
12-49441822-G-A c.4162C>T p.R1388W Missense 15/55 - 1
12-49441824-C-T c.4160G>A p.G1387D Missense 15/55 - 1
12-49441828-A-G c.4156T>C p.F1386L Missense 15/55 - 1
12-49441826-A-T c.4158T>A p.F1386L Missense 15/55 - 1
12-49441826-A-C c.4158T>G p.F1386L Missense 15/55 - 1
12-49441833-C-T c.4151G>A p.G1384D Missense 15/55 - 1
12-49441833-C-A c.4151G>T p.G1384V Missense 15/55 - 1
12-49441836-C-T c.4148G>A p.C1383Y Missense 15/55 - 2
12-49441841-C-T c.4143G>A p.V1381= Synonymous 15/55 - 1
12-49441844-A-T c.4140T>A p.C1380* Nonsense 15/55 - 1
12-49441848-CAT-C c.4135_4136del p.M1379Vfs*52 Frameshift 15/55 - 2
12-49442441-C-G c.4131+1G>C - IntronicSNV - 14/54 1
12-49442444-G-A c.4129C>T p.Q1377* Nonsense 14/55 - 2
12-49442483-AC-A c.4090del p.V1364Wfs*12 Frameshift 14/55 - 1
12-49442487-AT-A c.4085del p.N1362Ifs*14 Frameshift 14/55 - 1
12-49442490-C-A c.4083G>T p.Q1361H Missense 14/55 - 1
12-49442516-C-A c.4057G>T p.E1353* Nonsense 14/55 - 1
12-49442516-CCT-C c.4055_4056del p.E1352Gfs*5 Frameshift 14/55 - 1
12-49442519-C-T c.4054G>A p.E1352K Missense 14/55 - 1
12-49442511-TTCC-T c.4059_4061del p.E1355del InFrameDeletion 14/55 - 2
12-49442536-C-G c.4037G>C p.S1346T Missense 14/55 - 1
12-49442813-T-C c.4020+75A>G - IntronicSNV - 13/54 1
12-49442902-TGGAA-T c.4002_4005del p.S1335Lfs*5 Frameshift 13/55 - 1
12-49442904-GA-G c.4003del p.S1335Pfs*6 Frameshift 13/55 - 1
12-49442915-TGA-GTC c.3991_3993delinsGAC p.S1331D Missense 13/55 - 1
12-49442917-A-C c.3991T>G p.S1331A Missense 13/55 - 2
12-49442926-G-C c.3982C>G p.R1328G Missense 13/55 - 1
12-49442926-G-A c.3982C>T p.R1328W Missense 13/55 - 1
12-49442925-CG-C c.3982del p.R1328Gfs*2 Frameshift 13/55 - 1
12-49442928-GC-G c.3979del p.A1327Pfs*3 Frameshift 13/55 - 1
12-49442932-G-A c.3976C>T p.R1326W Missense 13/55 - 1
12-49442939-A-AC c.3968dup p.R1324* Nonsense 13/55 - 2
12-49442974-G-A c.3934C>T p.R1312C Missense 13/55 - 1
12-49442981-TG-T c.3926del p.P1309Qfs*21 Frameshift 13/55 - 1
12-49442997-C-T c.3911G>A p.R1304H Missense 13/55 - 1
12-49443464-C-A c.3906+1G>T - IntronicSNV - 12/54 1
12-49443464-C-T c.3906+1G>A - IntronicSNV - 12/54 1
12-49443476-G-A c.3895C>T p.R1299C Missense 12/55 - 1
12-49443478-G-A c.3893C>T p.S1298F Missense 12/55 - 1
12-49443482-G-A c.3889C>T p.R1297C Missense 12/55 - 1
12-49443488-G-A c.3883C>T p.P1295S Missense 12/55 - 2
12-49443502-C-T c.3869G>A p.R1290Q Missense 12/55 - 2
12-49443503-G-A c.3868C>T p.R1290W Missense 12/55 - 1
12-49443511-TC-T c.3859del p.E1287Rfs*43 Frameshift 12/55 - 1
12-49443517-T-C c.3854A>G p.E1285G Missense 12/55 - 1
12-49443530-C-A c.3841G>T p.G1281* Nonsense 12/55 - 1
12-49443539-C-G c.3832G>C p.A1278P Missense 12/55 - 2
12-49443562-G-C c.3809C>G p.S1270* Nonsense 12/55 - 1
12-49443598-C-T c.3773G>A p.R1258Q Missense 12/55 - 2
12-49443610-T-C c.3761A>G p.E1254G Missense 12/55 - 1
12-49443616-C-T c.3755G>A p.R1252Q Missense 12/55 - 2
12-49443617-G-A c.3754C>T p.R1252* Nonsense 12/55 - 2
12-49443634-G-A c.3737C>T p.T1246M Missense 12/55 - 3
12-49443640-A-T c.3731T>A p.V1244D Missense 12/55 - 1
12-49443663-GCC-CCA c.3706_3708delinsTGG p.G1236W Missense 12/55 - 1
12-49443666-A-C c.3705T>G p.G1235= Synonymous 12/55 - 1
12-49443666-AC-A c.3704del p.G1235Vfs*95 Frameshift 12/55 - 6
12-49443672-C-A c.3699G>T p.E1233D Missense 12/55 - 1
12-49443666-A-AC c.3704dup p.G1236Wfs*14 Frameshift 12/55 - 1
12-49443676-G-A c.3695C>T p.P1232L Missense 12/55 - 1
12-49443724-G-A c.3647C>T p.A1216V Missense 12/55 - 1
12-49443725-C-T c.3646G>A p.A1216T Missense 12/55 - 1
12-49443727-T-A c.3644A>T p.D1215V Missense 12/55 - 1
12-49443736-C-T c.3635G>A p.S1212N Missense 12/55 - 1
12-49443738-C-A c.3633G>T p.L1211= Synonymous 12/55 - 1
12-49443738-C-T c.3633G>A p.L1211= Synonymous 12/55 - 1
12-49443738-C-G c.3633G>C p.L1211= Synonymous 12/55 - 1
12-49443740-G-A c.3631C>T p.L1211= Synonymous 12/55 - 1
12-49443739-CAGATTAGAGA-C c.3623_3632del p.I1208Rfs*119 Frameshift 12/55 - 1
12-49443754-T-G c.3617A>C p.N1206T Missense 12/55 - 1
12-49443753-GT-G c.3617del p.N1206Tfs*6 Frameshift 12/55 - 1
12-49443757-A-C c.3614T>G p.V1205G Missense 12/55 - 1
12-49443773-T-G c.3598A>C p.I1200L Missense 12/55 - 1
12-49443773-TGA-T c.3596_3597del p.L1199Hfs*7 Frameshift 12/55 - 1
12-49443778-G-A c.3593C>T p.T1198I Missense 12/55 - 1
12-49443779-TG-T c.3591del p.T1198Lfs*14 Frameshift 12/55 - 1
12-49443784-G-A c.3587C>T p.P1196L Missense 12/55 - 1
12-49443790-G-T c.3581C>A p.P1194H Missense 12/55 - 1
12-49443793-G-A c.3578C>T p.A1193V Missense 12/55 - 1
12-49443799-G-A c.3572C>T p.P1191L Missense 12/55 - 4
12-49443827-A-G c.3544T>C p.C1182R Missense 12/55 - 1
12-49443830-G-A c.3541C>T p.P1181S Missense 12/55 - 1
12-49443836-C-G c.3535G>C p.G1179R Missense 12/55 - 1
12-49443846-T-C c.3525A>G p.T1175= Synonymous 12/55 - 1
12-49443846-T-A c.3525A>T p.T1175= Synonymous 12/55 - 1
12-49443846-T-G c.3525A>C p.T1175= Synonymous 12/55 - 1
12-49443849-C-CT c.3521dup p.T1175Dfs*9 Frameshift 12/55 - 1
12-49443860-C-A c.3511G>T p.E1171* Nonsense 12/55 - 1
12-49443862-G-A c.3509C>T p.P1170L Missense 12/55 - 1
12-49443877-G-T c.3494C>A p.P1165H Missense 12/55 - 1
12-49443896-C-G c.3475G>C p.E1159Q Missense 12/55 - 1
12-49443896-C-T c.3475G>A p.E1159K Missense 12/55 - 1
12-49443899-C-T c.3472G>A p.E1158K Missense 12/55 - 1
12-49443916-G-A c.3455C>T p.P1152L Missense 12/55 - 1
12-49443932-C-CA c.3438dup p.E1147* Nonsense 12/55 - 1
12-49443942-A-T c.3429T>A p.S1143R Missense 12/55 - 1
12-49443947-C-T c.3424G>A p.G1142S Missense 12/55 - 1
12-49443956-G-A c.3415C>T p.Q1139* Nonsense 12/55 - 1
12-49443979-G-A c.3392C>T p.P1131L Missense 12/55 - 3
12-49443983-C-T c.3388G>A p.A1130T Missense 12/55 - 1
12-49444008-G-C c.3363C>G p.D1121E Missense 12/55 - 1
12-49444008-G-T c.3363C>A p.D1121E Missense 12/55 - 1
12-49444024-G-A c.3347C>T p.S1116F Missense 12/55 - 1
12-49444025-A-G c.3346T>C p.S1116P Missense 12/55 - 1
12-49444036-AG-A c.3334del p.L1112Wfs*7 Frameshift 12/55 - 1
12-49444052-T-TG c.3318dup p.S1107Qfs*8 Frameshift 12/55 - 1
12-49444061-G-C c.3310C>G p.P1104A Missense 12/55 - 1
12-49444063-C-T c.3308G>A p.C1103Y Missense 12/55 - 1
12-49444063-C-A c.3308G>T p.C1103F Missense 12/55 - 1
12-49444064-A-G c.3307T>C p.C1103R Missense 12/55 - 1
12-49444071-G-GT c.3299dup p.D1100Efs*15 Frameshift 12/55 - 1
12-49444077-C-G c.3294G>C p.M1098I Missense 12/55 - 1
12-49444077-C-T c.3294G>A p.M1098I Missense 12/55 - 1
12-49444077-C-A c.3294G>T p.M1098I Missense 12/55 - 1
12-49444078-A-G c.3293T>C p.M1098T Missense 12/55 - 1
12-49444088-G-T c.3283C>A p.P1095T Missense 12/55 - 1
12-49444106-T-A c.3265A>T p.S1089C Missense 12/55 - 1
12-49444109-G-A c.3262C>T p.P1088S Missense 12/55 - 1
12-49444112-C-A c.3259G>T p.E1087* Nonsense 12/55 - 2
12-49444120-G-T c.3251C>A p.P1084Q Missense 12/55 - 1
12-49444121-G-T c.3250C>A p.P1084T Missense 12/55 - 1
12-49444122-G-T c.3249C>A p.C1083* Nonsense 12/55 - 1
12-49444133-C-A c.3238G>T p.E1080* Nonsense 12/55 - 1
12-49444140-TTTC-T c.3228_3230del p.K1077del InFrameDeletion 12/55 - 2
12-49444174-T-A c.3197A>T p.D1066V Missense 12/55 - 1
12-49444178-A-T c.3193T>A p.S1065T Missense 12/55 - 2
12-49444181-C-T c.3190G>A p.V1064I Missense 12/55 - 1
12-49444187-AC-A c.3184del p.V1062Wfs*57 Frameshift 12/55 - 1
12-49444196-C-A c.3175G>T p.G1059W Missense 12/55 - 1
12-49444207-AA-GT c.3163_3164delinsAC p.L1055T Missense 12/55 - 1
12-49444206-CA-C c.3164del p.L1055* Frameshift 12/55 - 1
12-49444219-A-C c.3152T>G p.V1051G Missense 12/55 - 1
12-49444220-C-T c.3151G>A p.V1051I Missense 12/55 - 1
12-49444219-A-AC c.3151dup p.V1051Gfs*17 Frameshift 12/55 - 1
12-49444220-CGGACAGTGGTAGGGCAGGAGGAGAGCACTGG-C c.3120_3150del p.Q1041Ffs*5 Frameshift 12/55 - 1
12-49444223-A-G c.3148T>C p.S1050P Missense 12/55 - 1
12-49444226-G-T c.3145C>A p.L1049M Missense 12/55 - 1
12-49444249-T-C c.3122A>G p.Q1041R Missense 12/55 - 1
12-49444260-GGA-G c.3109_3110del p.S1037Pfs*30 Frameshift 12/55 - 1
12-49444268-G-T c.3103C>A p.Q1035K Missense 12/55 - 1
12-49444276-CA-C c.3095del p.L1032Rfs*24 Frameshift 12/55 - 2
12-49444282-T-C c.3089A>G p.H1030R Missense 12/55 - 1
12-49444297-GA-CC c.3073_3074delinsGG p.S1025G Missense 12/55 - 1
12-49444304-G-A c.3067C>T p.Q1023* Nonsense 12/55 - 4
12-49444304-G-T c.3067C>A p.Q1023K Missense 12/55 - 1
12-49444320-C-A c.3051G>T p.M1017I Missense 12/55 - 1
12-49444336-G-A c.3035C>T p.A1012V Missense 12/55 - 1
12-49444343-C-T c.3028G>A p.G1010R Missense 12/55 - 1
12-49444379-G-C c.2992C>G p.P998A Missense 12/55 - 1
12-49444381-G-A c.2990C>T p.P997L Missense 12/55 - 1
12-49444377-AG-A c.2993del p.P998Lfs*2 Frameshift 12/55 - 1
12-49444384-A-C c.2987T>G p.V996G Missense 12/55 - 1
12-49444408-G-A c.2963C>T p.A988V Missense 12/55 - 1
12-49444436-C-T c.2935G>A p.E979K Missense 12/55 - 1
12-49444438-A-G c.2933T>C p.L978P Missense 12/55 - 1
12-49444439-G-A c.2932C>T p.L978= Synonymous 12/55 - 1
12-49444450-G-T c.2921C>A p.A974D Missense 12/55 - 1
12-49444462-T-C c.2909A>G p.E970G Missense 12/55 - 1
12-49444478-C-G c.2893G>C p.G965R Missense 12/55 - 2
12-49444478-C-T c.2893G>A p.G965R Missense 12/55 - 1
12-49444478-CCT-C c.2892_2893del p.D966Qfs*2 Frameshift 12/55 - 1
12-49444484-C-T c.2887G>A p.A963T Missense 12/55 - 1
12-49444485-A-C c.2886T>G p.G962= Synonymous 12/55 - 1
12-49444485-A-T c.2886T>A p.G962= Synonymous 12/55 - 1
12-49444485-A-G c.2886T>C p.G962= Synonymous 12/55 - 1
12-49444485-ACCAAAGGGGTACTCTAACTCCC-A c.2864_2885del p.G955Vfs*38 Frameshift 12/55 - 1
12-49444501-A-T c.2870T>A p.L957* Nonsense 12/55 - 1
12-49444519-A-G c.2852T>C p.L951P Missense 12/55 - 1
12-49444532-C-A c.2839G>T p.A947S Missense 12/55 - 1
12-49444534-G-C c.2837C>G p.A946G Missense 12/55 - 1
12-49444545-G-A c.2826C>T p.I942= Synonymous 12/55 - 2
12-49444562-G-A c.2809C>T p.P937S Missense 12/55 - 1
12-49444567-AG-A c.2803del p.L935Ffs*23 Frameshift 12/55 - 1
12-49444668-C-T c.2797+1G>A - IntronicSNV - 11/54 2
12-49444668-C-A c.2797+1G>T - IntronicSNV - 11/54 1
12-49444684-G-A c.2782C>T p.Q928* Nonsense 11/55 - 3
12-49444699-G-T c.2767C>A p.P923T Missense 11/55 - 1
12-49444700-C-T c.2766G>A p.E922= Synonymous 11/55 - 1
12-49444719-G-A c.2747C>T p.P916L Missense 11/55 - 1
12-49444720-G-A c.2746C>T p.P916S Missense 11/55 - 1
12-49444742-CAG-C c.2722_2723del p.L908Vfs*60 Frameshift 11/55 - 1
12-49444755-C-A c.2711G>T p.G904V Missense 11/55 - 1
12-49444762-C-A c.2704G>T p.E902* Nonsense 11/55 - 1
12-49444796-GG-TT c.2669_2670delinsAA p.S890* Nonsense 11/55 - 1
12-49444812-G-A c.2654C>T p.P885L Missense 11/55 - 1
12-49444819-A-C c.2647T>G p.F883V Missense 11/55 - 1
12-49444840-C-T c.2626G>A p.A876T Missense 11/55 - 1
12-49444854-G-A c.2612C>T p.P871L Missense 11/55 - 1
12-49444863-GG-TT c.2602_2603delinsAA p.P868N Missense 11/55 - 1
12-49444873-C-A c.2593G>T p.E865* Nonsense 11/55 - 1
12-49444878-C-A c.2588G>T p.R863L Missense 11/55 - 1
12-49444887-CA-C c.2579del p.L860Rfs*70 Frameshift 11/55 - 1
12-49444900-C-G c.2566G>C p.E856Q Missense 11/55 - 1
12-49444900-C-A c.2566G>T p.E856* Nonsense 11/55 - 1
12-49444931-C-A c.2535G>T p.R845= Synonymous 11/55 - 1
12-49444932-C-T c.2534G>A p.R845Q Missense 11/55 - 1
12-49444932-C-CG c.2533dup p.R845Pfs*3 Frameshift 11/55 - 1
12-49444932-CG-C c.2533del p.R845Gfs*85 Frameshift 11/55 - 1
12-49444939-A-G c.2527T>C p.S843P Missense 11/55 - 1
12-49444942-G-A c.2524C>T p.L842= Synonymous 11/55 - 1
12-49444941-AGGCATGGCTCCTCAGACTGGGGGGACAGGTGTGATTCCTCAGGTTGGGGGGACAAGCAT-A c.2466_2524del p.C823Vfs*5 InFrameDeletion 11/55 - 1
12-49444944-GCA-G c.2521_2522del p.C841Pfs*6 Frameshift 11/55 - 1
12-49444946-T-TGC c.2519_2520insGC p.C841Hfs*90 Frameshift 11/55 - 1
12-49444956-G-C c.2510C>G p.S837C Missense 11/55 - 1
12-49444959-T-G c.2507A>C p.Q836P Missense 11/55 - 1
12-49444976-T-G c.2490A>C p.E830D Missense 11/55 - 1
12-49444985-T-A c.2481A>T p.Q827H Missense 11/55 - 1
12-49444985-T-G c.2481A>C p.Q827H Missense 11/55 - 2
12-49444989-G-T c.2477C>A p.P826H Missense 11/55 - 1
12-49445008-C-G c.2458G>C p.E820Q Missense 11/55 - 1
12-49445010-G-T c.2456C>A p.P819H Missense 11/55 - 1
12-49445020-A-G c.2446T>C p.S816P Missense 11/55 - 1
12-49445026-G-A c.2440C>T p.H814Y Missense 11/55 - 1
12-49445028-G-A c.2438C>T p.P813L Missense 11/55 - 3
12-49445038-T-G c.2428A>C p.T810P Missense 11/55 - 2
12-49445040-CT-C c.2426del p.Q809Rfs*121 Frameshift 11/55 - 1
12-49445040-T-C c.2426A>G p.Q809R Missense 11/55 - 1
12-49445040-T-G c.2426A>C p.Q809P Missense 11/55 - 1
12-49445040-T-TG c.2425dup p.Q809Pfs*3 Frameshift 11/55 - 1
12-49445038-TCTGGGGGGACAGGTGCAATTCCTCAGGCTGAGGGGACAGATGTGGTCCCTCAGC-T c.2374_2427del p.A792_Q809del InFrameDeletion 11/55 - 2
12-49445057-T-G c.2409A>C p.E803D Missense 11/55 - 1
12-49445067-T-C c.2399A>G p.Q800R Missense 11/55 - 2
12-49445068-G-A c.2398C>T p.Q800* Nonsense 11/55 - 1
12-49445086-C-T c.2380G>A p.G794R Missense 11/55 - 1
12-49445086-C-G c.2380G>C p.G794R Missense 11/55 - 1
12-49445089-C-A c.2377G>T p.E793* Nonsense 11/55 - 1
12-49445094-CT-C c.2372del p.Q791Rfs*139 Frameshift 11/55 - 1
12-49445095-G-C c.2371C>G p.Q791E Missense 11/55 - 1
12-49445098-G-A c.2368C>T p.P790S Missense 11/55 - 1
12-49445126-G-A c.2340C>T p.C780= Synonymous 11/55 - 1
12-49445140-C-A c.2326G>T p.E776* Nonsense 11/55 - 1
12-49445148-T-C c.2318A>G p.Q773R Missense 11/55 - 1
12-49445149-G-T c.2317C>A p.Q773K Missense 11/55 - 1
12-49445148-T-TG c.2317dup p.Q773Pfs*3 Frameshift 11/55 - 1
12-49445156-ACAG-A c.2308_2310del p.L770del InFrameDeletion 11/55 - 1
12-49445167-C-A c.2299G>T p.E767* Nonsense 11/55 - 1
12-49445156-CAGGTGTGGCTCCTCAGCCTGCGGAGAT-C c.2283_2309del p.A765_Q773del InFrameDeletion 11/55 - 2
12-49445176-G-A c.2290C>T p.Q764* Nonsense 11/55 - 1
12-49445175-TGCG-T c.2288_2290del p.P763del InFrameDeletion 11/55 - 1
12-49445182-A-G c.2284T>C p.S762P Missense 11/55 - 1
12-49445183-TAG-CCA c.2281_2283delinsTGG p.L761W Missense 11/55 - 1
12-49445184-A-C c.2282T>G p.L761R Missense 11/55 - 1
12-49445184-AG-TA c.2281_2282delinsTA p.L761* Nonsense 11/55 - 1
12-49445184-AGGTGT-A c.2277_2281del p.H760Ifs*5 Frameshift 11/55 - 1
12-49445203-G-A c.2263C>T p.R755W Missense 11/55 - 1
12-49445189-TGGCTCCTCAGGCCGGGGGGACAGGTGC-T c.2250_2276del p.R755_P763del InFrameDeletion 11/55 - 1
12-49445202-C-CG c.2263dup p.R755Pfs*3 Frameshift 11/55 - 1
12-49445202-CG-C c.2263del p.R755Gfs*175 Frameshift 11/55 - 1
12-49445211-CAG-C c.2254_2255del p.L752Vfs*5 Frameshift 11/55 - 1
12-49445217-G-A c.2249C>T p.P750L Missense 11/55 - 2
12-49445218-G-A c.2248C>T p.P750S Missense 11/55 - 1
12-49445222-C-G c.2244G>C p.E748D Missense 11/55 - 1
12-49445229-C-T c.2237G>A p.R746Q Missense 11/55 - 1
12-49445244-G-A c.2222C>T p.P741L Missense 11/55 - 1
12-49445259-G-T c.2207C>A p.P736H Missense 11/55 - 1
12-49445262-C-A c.2204G>T p.C735F Missense 11/55 - 1
12-49445262-C-CG c.2203_2204insC p.C735Sfs*14 Frameshift 11/55 - 1
12-49445263-A-T c.2203T>A p.C735S Missense 11/55 - 1
12-49445262-C-G c.2204G>C p.C735S Missense 11/55 - 1
12-49445271-G-A c.2195C>T p.P732L Missense 11/55 - 1
12-49445301-TC-T c.2164del p.E722Sfs*208 Frameshift 11/55 - 1
12-49445305-C-A c.2161G>T p.E721* Nonsense 11/55 - 1
12-49445310-G-A c.2156C>T p.P719L Missense 11/55 - 1
12-49445313-A-T c.2153T>A p.L718Q Missense 11/55 - 1
12-49445314-G-C c.2152C>G p.L718V Missense 11/55 - 1
12-49445334-G-A c.2132C>T p.P711L Missense 11/55 - 1
12-49445339-T-C c.2127A>G p.P709= Synonymous 11/55 - 1
12-49445349-GG-CA c.2116_2117delinsTG p.P706C Missense 11/55 - 1
12-49445352-G-C c.2114C>G p.S705* Nonsense 11/55 - 1
12-49445355-T-TC c.2110dup p.D704Gfs*27 Frameshift 11/55 - 1
12-49445351-TGAGTCCTCAGGTGGTGGGGATGTGGGG-T c.2088_2114del p.T698_P706del InFrameDeletion 11/55 - 1
12-49445374-T-C c.2092A>G p.T698A Missense 11/55 - 2
12-49445378-G-T c.2088C>A p.S696= Synonymous 11/55 - 1
12-49445392-G-T c.2074C>A p.P692T Missense 11/55 - 2
12-49445409-G-T c.2057C>A p.A686D Missense 11/55 - 1
12-49445427-G-A c.2039C>T p.T680M Missense 11/55 - 1
12-49445445-G-A c.2021C>T p.P674L Missense 11/55 - 1
12-49445455-A-G c.2011T>C p.L671= Synonymous 11/55 - 1
12-49445462-T-G c.2004A>C p.E668D Missense 11/55 - 1
12-49445462-T-A c.2004A>T p.E668D Missense 11/55 - 1
12-49445472-G-A c.1994C>T p.P665L Missense 11/55 - 1
12-49445476-G-C c.1990C>G p.P664A Missense 11/55 - 1
12-49445478-GA-AG c.1987_1988delinsCT p.S663L Missense 11/55 - 1
12-49445480-AC-A c.1986del p.S663Lfs*267 Frameshift 11/55 - 1
12-49445485-G-A c.1981C>T p.R661C Missense 11/55 - 1
12-49445489-ACACCACAGGCAGGGGGGATAGGCGCGATACCTCAGGTGGGGGGGACATAGGTGATTCTT-A c.1919_1977del p.E640Vfs*8 InFrameDeletion 11/55 - 1
12-49445499-CA-C c.1967del p.L656Rfs*274 Frameshift 11/55 - 2
12-49445499-A-AG c.1966dup p.L656Pfs*12 Frameshift 11/55 - 2
12-49445511-C-T c.1955G>A p.R652H Missense 11/55 - 1
12-49445516-T-TA c.1949dup p.S651Ifs*17 Frameshift 11/55 - 1
12-49445517-AC-A c.1948del p.V650Yfs*280 Frameshift 11/55 - 1
12-49445524-G-GT c.1941dup p.P648Tfs*2 Frameshift 11/55 - 1
12-49445525-T-A c.1941A>T p.P647= Synonymous 11/55 - 1
12-49445525-T-C c.1941A>G p.P647= Synonymous 11/55 - 1
12-49445525-T-G c.1941A>C p.P647= Synonymous 11/55 - 1
12-49445526-G-A c.1940C>T p.P647L Missense 11/55 - 1
12-49445526-G-C c.1940C>G p.P647R Missense 11/55 - 1
12-49445526-G-T c.1940C>A p.P647Q Missense 11/55 - 3
12-49445528-G-C c.1938C>G p.P646= Synonymous 11/55 - 1
12-49445529-G-A c.1937C>T p.P646L Missense 11/55 - 1
12-49445525-TG-T c.1940del p.P647Hfs*283 Frameshift 11/55 - 4
12-49445536-T-G c.1930A>C p.M644L Missense 11/55 - 1
12-49445543-T-G c.1923A>C p.E641D Missense 11/55 - 2
12-49445543-T-A c.1923A>T p.E641D Missense 11/55 - 1
12-49445545-C-A c.1921G>T p.E641* Nonsense 11/55 - 1
12-49445557-G-T c.1909C>A p.P637T Missense 11/55 - 1
12-49445562-A-G c.1904T>C p.M635T Missense 11/55 - 1
12-49445567-C-A c.1899G>T p.S633= Synonymous 11/55 - 1
12-49445570-G-C c.1896C>G p.D632E Missense 11/55 - 2
12-49445570-G-T c.1896C>A p.D632E Missense 11/55 - 2
12-49445571-TCCTCAGGTGGTGGGGACAGGCGTGATG-T c.1868_1894del p.A623_E631del InFrameDeletion 11/55 - 1
12-49445593-G-A c.1873C>T p.R625C Missense 11/55 - 1
12-49445616-AG-GT c.1849_1850delinsAC p.L617T Missense 11/55 - 1
12-49445626-C-A c.1840G>T p.E614* Nonsense 11/55 - 1
12-49445638-G-C c.1828C>G p.P610A Missense 11/55 - 1
12-49445667-A-T c.1799T>A p.F600Y Missense 11/55 - 1
12-49445669-C-CA c.1796dup p.F600Vfs*5 Frameshift 11/55 - 1
12-49445679-G-A c.1787C>T p.A596V Missense 11/55 - 1
12-49445712-G-A c.1754C>T p.P585L Missense 11/55 - 3
12-49445730-G-T c.1736C>A p.S579* Nonsense 11/55 - 1
12-49445730-G-C c.1736C>G p.S579* Nonsense 11/55 - 1
12-49445734-C-A c.1732G>T p.E578* Nonsense 11/55 - 1
12-49445754-C-G c.1712G>C p.R571P Missense 11/55 - 1
12-49445761-C-CT c.1704dup p.A569Sfs*9 Frameshift 11/55 - 1
12-49445772-G-A c.1694C>T p.P565L Missense 11/55 - 1
12-49445793-G-T c.1673C>A p.P558H Missense 11/55 - 1
12-49445798-C-A c.1668G>T p.P556= Synonymous 11/55 - 1
12-49445806-A-G c.1660T>C p.L554= Synonymous 11/55 - 1
12-49445811-GA-CC c.1654_1655delinsGG p.S552G Missense 11/55 - 1
12-49445826-G-A c.1640C>T p.P547L Missense 11/55 - 1
12-49445838-G-A c.1628C>T p.S543L Missense 11/55 - 2
12-49445839-A-C c.1627T>G p.S543A Missense 11/55 - 1
12-49445839-A-G c.1627T>C p.S543P Missense 11/55 - 1
12-49445862-G-A c.1604C>T p.P535L Missense 11/55 - 1
12-49445889-G-T c.1577C>A p.S526* Nonsense 11/55 - 1
12-49445889-G-C c.1577C>G p.S526* Nonsense 11/55 - 1
12-49445896-C-T c.1570G>A p.E524K Missense 11/55 - 1
12-49445901-G-A c.1565C>T p.P522L Missense 11/55 - 1
12-49445905-A-C c.1561T>G p.S521A Missense 11/55 - 1
12-49445922-A-C c.1544T>G p.L515R Missense 11/55 - 1
12-49445922-CA-C c.1544del p.L515Rfs*415 Frameshift 11/55 - 1
12-49445935-G-A c.1531C>T p.P511S Missense 11/55 - 1
12-49445940-G-T c.1526C>A p.S509* Nonsense 11/55 - 1
12-49445949-G-T c.1517C>A p.P506Q Missense 11/55 - 1
12-49445948-TG-T c.1517del p.P506Hfs*424 Frameshift 11/55 - 1
12-49445995-C-A c.1471G>T p.E491* Nonsense 11/55 - 1
12-49445998-C-A c.1468G>T p.E490* Nonsense 11/55 - 1
12-49446003-G-A c.1463C>T p.P488L Missense 11/55 - 1
12-49446007-G-A c.1459C>T p.R487W Missense 11/55 - 1
12-49446014-G-C c.1452C>G p.H484Q Missense 11/55 - 1
12-49446014-G-T c.1452C>A p.H484Q Missense 11/55 - 1
12-49446022-C-A c.1444G>T p.A482S Missense 11/55 - 1
12-49446025-C-T c.1441G>A p.E481K Missense 11/55 - 1
12-49446040-C-G c.1426G>C p.A476P Missense 11/55 - 1
12-49446040-C-T c.1426G>A p.A476T Missense 11/55 - 2
12-49446058-G-A c.1408C>T p.P470S Missense 11/55 - 1
12-49446060-G-A c.1406C>T p.P469L Missense 11/55 - 1
12-49446062-T-A c.1404A>T p.S468= Synonymous 11/55 - 1
12-49446062-T-C c.1404A>G p.S468= Synonymous 11/55 - 1
12-49446062-T-G c.1404A>C p.S468= Synonymous 11/55 - 1
12-49446094-T-G c.1372A>C p.T458P Missense 11/55 - 1
12-49446096-G-T c.1370C>A p.P457H Missense 11/55 - 1
12-49446099-G-C c.1367C>G p.S456* Nonsense 11/55 - 1
12-49446108-G-A c.1358C>T p.P453L Missense 11/55 - 1
12-49446120-A-T c.1346T>A p.L449Q Missense 11/55 - 1
12-49446123-G-T c.1343C>A p.P448H Missense 11/55 - 1
12-49446120-AG-A c.1345del p.L449Cfs*481 Frameshift 11/55 - 1
12-49446129-T-A c.1337A>T p.E446V Missense 11/55 - 1
12-49446134-CAGGT-C c.1329_1332del p.P444Rfs*485 Frameshift 11/55 - 1
12-49446160-C-T c.1306G>A p.E436K Missense 11/55 - 1
12-49446168-G-A c.1298C>T p.P433L Missense 11/55 - 1
12-49446165-AG-A c.1300del p.L434* Frameshift 11/55 - 1
12-49446184-G-A c.1282C>T p.P428S Missense 11/55 - 1
12-49446187-C-T c.1279G>A p.E427K Missense 11/55 - 1
12-49446193-G-A c.1273C>T p.Q425* Nonsense 11/55 - 1
12-49446342-C-T c.1258+5G>A - IntronicSNV - 10/54 1
12-49446352-G-T c.1253C>A p.P418Q Missense 10/55 - 1
12-49446359-C-T c.1246G>A p.A416T Missense 10/55 - 1
12-49446404-C-T c.1201G>A p.V401M Missense 10/55 - 4
12-49446412-C-T c.1193G>A p.G398D Missense 10/55 - 1
12-49446420-C-A c.1185G>T p.Q395H Missense 10/55 - 1
12-49446431-A-G c.1174T>C p.C392R Missense 10/55 - 1
12-49446437-C-T c.1168G>A p.V390I Missense 10/55 - 2
12-49446442-AG-GC c.1162_1163delinsGC p.L388A Missense 10/55 - 1
12-49446445-G-C c.1160C>G p.A387G Missense 10/55 - 1
12-49446448-T-C c.1157A>G p.D386G Missense 10/55 - 1
12-49446461-TG-T c.1143del p.T382Lfs*20 Frameshift 10/55 - 1
12-49446476-G-T c.1129C>A p.P377T Missense 10/55 - 1
12-49446487-G-C c.1118C>G p.S373* Nonsense 10/55 - 2
12-49446487-G-T c.1118C>A p.S373* Nonsense 10/55 - 1
12-49446690-CCACTTA-C c.1112+2_1112+7del - IntronicDeletion - 9/54 1
12-49446703-A-T c.1107T>A p.C369* Nonsense 9/55 - 1
12-49446708-C-T c.1102G>A p.V368M Missense 9/55 - 1
12-49446710-G-A c.1100C>T p.P367L Missense 9/55 - 1
12-49446710-G-T c.1100C>A p.P367Q Missense 9/55 - 1
12-49446734-C-G c.1076G>C p.R359P Missense 9/55 - 1
12-49446734-C-T c.1076G>A p.R359H Missense 9/55 - 1
12-49446735-G-T c.1075C>A p.R359S Missense 9/55 - 1
12-49446741-T-C c.1069A>G p.T357A Missense 9/55 - 1
12-49446744-G-A c.1066C>T p.Q356* Nonsense 9/55 - 1
12-49446748-T-G c.1062A>C p.G354= Synonymous 9/55 - 1
12-49446752-T-A c.1058A>T p.Q353L Missense 9/55 - 1
12-49446760-G-GT c.1049dup p.H350Qfs*14 Frameshift 9/55 - 1
12-49446763-A-T c.1047T>A p.C349* Nonsense 9/55 - 4
12-49446771-G-A c.1039C>T p.H347Y Missense 9/55 - 1
12-49446771-GAC-G c.1037_1038del p.C346Sfs*17 Frameshift 9/55 - 1
12-49446777-G-A c.1033C>T p.L345F Missense 9/55 - 1
12-49446784-G-C c.1026C>G p.N342K Missense 9/55 - 1
12-49446794-C-T c.1016G>A p.W339* Nonsense 9/55 - 2
12-49446793-C-T c.1017G>A p.W339* Nonsense 9/55 - 1
12-49446798-C-A c.1012G>T p.E338* Nonsense 9/55 - 1
12-49446800-G-A c.1010C>T p.S337L Missense 9/55 - 1
12-49446809-T-A c.1001A>T p.N334I Missense 9/55 - 1
12-49446818-G-A c.992C>T p.A331V Missense 9/55 - 1
12-49446823-GCC-G c.985_986del p.G329Lfs*12 Frameshift 9/55 - 1
12-49446827-G-A c.983C>T p.A328V Missense 9/55 - 1
12-49446834-A-G c.976T>C p.C326R Missense 9/55 - 1
12-49446838-CCG-GCT c.970_972delinsAGC p.R324S Missense 9/55 - 1
12-49447000-C-T c.944G>A p.W315* Nonsense 8/55 - 1
12-49446999-C-T c.945G>A p.W315* Nonsense 8/55 - 1
12-49447034-T-C c.910A>G p.K304E Missense 8/55 - 1
12-49447055-C-T c.889G>A p.G297R Missense 8/55 - 1
12-49447062-A-T c.882T>A p.C294* Nonsense 8/55 - 1
12-49447070-C-A c.874G>T p.E292* Nonsense 8/55 - 1
12-49447085-T-C c.859A>G p.K287E Missense 8/55 - 1
12-49447085-T-TA c.858dup p.K287* Nonsense 8/55 - 1
12-49447085-TAG-T c.857_858del p.S286* Frameshift 8/55 - 1
12-49447090-T-A c.854A>T p.D285V Missense 8/55 - 1
12-49447091-C-A c.853G>T p.D285Y Missense 8/55 - 1
12-49447091-C-T c.853G>A p.D285N Missense 8/55 - 1
12-49447097-C-A c.847G>T p.G283W Missense 8/55 - 1
12-49447100-G-A c.844C>T p.P282S Missense 8/55 - 1
12-49447211-C-T c.839+48G>A - IntronicSNV - 7/54 1
12-49447258-C-T c.839+1G>A - IntronicSNV - 7/54 1
12-49447259-C-A c.839G>T p.R280M Missense 7/55 - 1
12-49447257-AC-A c.839+1del - IntronicDeletion 7/55 - 1
12-49447259-C-T c.839G>A p.R280K Missense 7/55 - 1
12-49447266-C-T c.832G>A p.A278T Missense 7/55 - 1
12-49447268-T-A c.830A>T p.Q277L Missense 7/55 - 1
12-49447271-C-A c.827G>T p.C276F Missense 7/55 - 1
12-49447271-C-T c.827G>A p.C276Y Missense 7/55 - 1
12-49447275-CTT-C c.821_822del p.K274Sfs*11 Frameshift 7/55 - 1
12-49447295-C-T c.803G>A p.W268* Nonsense 7/55 - 1
12-49447294-C-T c.804G>A p.W268* Nonsense 7/55 - 1
12-49447308-TTGCGGGCAGTCAGA-T c.777_790del p.L260Tfs*8 Frameshift 7/55 - 1
12-49447309-G-A c.789C>T p.R263= Synonymous 7/55 - 1
12-49447311-G-A c.787C>T p.R263C Missense 7/55 - 1
12-49447333-G-A c.765C>T p.C255= Synonymous 7/55 - 1
12-49447337-G-GC c.760dup p.A254Gfs*19 Frameshift 7/55 - 3
12-49447341-C-T c.757G>A p.G253R Missense 7/55 - 1
12-49447352-T-G c.746A>C p.H249P Missense 7/55 - 1
12-49447356-C-T c.742G>A p.G248R Missense 7/55 - 1
12-49447362-TG-T c.735del p.S246Afs*15 Frameshift 7/55 - 1
12-49447386-A-G c.712T>C p.L238= Synonymous 7/55 - 1
12-49447388-TC-T c.709del p.E237Sfs*24 Frameshift 7/55 - 2
12-49447401-C-CA c.696dup p.E233* Nonsense 7/55 - 1
12-49447409-G-A c.689C>T p.A230V Missense 7/55 - 1
12-49447413-A-T c.685T>A p.C229S Missense 7/55 - 1
12-49447416-G-C c.682C>G p.R228G Missense 7/55 - 1
12-49447419-C-T c.679G>A p.A227T Missense 7/55 - 1
12-49447422-C-G c.676G>C p.E226Q Missense 7/55 - 1
12-49447422-C-T c.676G>A p.E226K Missense 7/55 - 1
12-49447765-A-C c.669T>G p.Y223* Nonsense 6/55 - 1
12-49447770-C-T c.664G>A p.A222T Missense 6/55 - 1
12-49447788-C-A c.646G>T p.E216* Nonsense 6/55 - 1
12-49447798-C-T c.636G>A p.L212= Synonymous 6/55 - 1
12-49447803-G-A c.631C>T p.Q211* Nonsense 6/55 - 1
12-49447808-G-A c.626C>T p.T209I Missense 6/55 - 1
12-49447838-G-C c.596C>G p.T199S Missense 6/55 - 1
12-49447845-A-G c.589T>C p.C197R Missense 6/55 - 1
12-49447848-G-T c.586C>A p.P196T Missense 6/55 - 1
12-49447867-A-T c.567T>A p.C189* Nonsense 6/55 - 2
12-49447877-G-T c.557C>A p.S186* Nonsense 6/55 - 1
12-49447885-AG-A c.548del p.P183Lfs*25 Frameshift 6/55 - 1
12-49447886-GGGATGGAGGCACCGAGCCT-G c.529_547del p.R177Lfs*25 Frameshift 6/55 - 1
12-49447892-G-T c.542C>A p.S181Y Missense 6/55 - 1
12-49447899-C-A c.535G>T p.G179C Missense 6/55 - 1
12-49447899-C-T c.535G>A p.G179S Missense 6/55 - 1
12-49447904-CT-TA c.529_530delinsTA p.R177* Nonsense 6/55 - 1
12-49447906-G-T c.528C>A p.T176= Synonymous 6/55 - 1
12-49447912-G-T c.522C>A p.H174Q Missense 6/55 - 1
12-49447912-G-C c.522C>G p.H174Q Missense 6/55 - 1
12-49448089-C-T c.510+1G>A - IntronicSNV - 5/54 2
12-49448090-C-G c.510G>C p.Q170H Missense 5/55 - 1
12-49448091-T-C c.509A>G p.Q170R Missense 5/55 - 1
12-49448093-T-A c.507A>T p.S169= Synonymous 5/55 - 1
12-49448093-T-C c.507A>G p.S169= Synonymous 5/55 - 1
12-49448093-T-G c.507A>C p.S169= Synonymous 5/55 - 1
12-49448107-A-C c.493T>G p.F165V Missense 5/55 - 1
12-49448113-C-T c.487G>A p.A163T Missense 5/55 - 1
12-49448122-C-G c.478G>C p.V160L Missense 5/55 - 1
12-49448122-C-A c.478G>T p.V160L Missense 5/55 - 1
12-49448122-C-T c.478G>A p.V160M Missense 5/55 - 1
12-49448143-C-A c.457G>T p.E153* Nonsense 5/55 - 1
12-49448169-G-A c.431C>T p.A144V Missense 5/55 - 1
12-49448184-T-A c.416A>T p.H139L Missense 5/55 - 1
12-49448182-GGT-G c.416_417del p.H139Pfs*80 Frameshift 5/55 - 1
12-49448190-C-T c.410G>A p.W137* Nonsense 5/55 - 1
12-49448189-C-T c.411G>A p.W137* Nonsense 5/55 - 1
12-49448199-C-A c.401G>T p.G134V Missense 5/55 - 1
12-49448310-C-A c.400+1G>T - IntronicSNV - 4/54 1
12-49448310-C-T c.400+1G>A - IntronicSNV - 4/54 1
12-49448313-C-T c.398G>A p.G133E Missense 4/55 - 1
12-49448322-C-T c.389G>A p.G130E Missense 4/55 - 1
12-49448336-TGT-GTC c.373_375delinsGAC p.T125D Missense 4/55 - 1
12-49448337-G-A c.374C>T p.T125I Missense 4/55 - 1
12-49448343-C-T c.368G>A p.G123D Missense 4/55 - 1
12-49448348-CAGG-C c.361_363del p.P121del InFrameDeletion 4/55 - 1
12-49448350-G-T c.361C>A p.P121T Missense 4/55 - 1
12-49448365-A-G c.346T>C p.S116P Missense 4/55 - 1
12-49448375-A-ACG c.335_336insCG p.E113Vfs*18 Frameshift 4/55 - 1
12-49448376-CT-GC c.334_335delinsGC p.S112A Missense 4/55 - 1
12-49448380-G-A c.331C>T p.P111S Missense 4/55 - 1
12-49448388-G-T c.323C>A p.A108E Missense 4/55 - 1
12-49448390-C-T c.321G>A p.E107= Synonymous 4/55 - 1
12-49448409-CC-TA c.301_302delinsTA p.G101* Nonsense 4/55 - 1
12-49448414-CA-C c.297del p.S102Afs*28 Frameshift 4/55 - 1
12-49448426-TG-AT c.284_285delinsAT p.P95H Missense 4/55 - 1
12-49448427-G-A c.284C>T p.P95L Missense 4/55 - 1
12-49448426-TG-T c.284del p.P95Qfs*35 Frameshift 4/55 - 1
12-49448434-G-A c.277C>T p.R93W Missense 4/55 - 1
12-49448437-GC-G c.273del p.W91Cfs*39 Frameshift 4/55 - 1
12-49448439-CA-C c.271del p.W91Gfs*39 Frameshift 4/55 - 1
12-49448458-A-G c.253T>C p.F85L Missense 4/55 - 1
12-49448456-A-T c.255T>A p.F85L Missense 4/55 - 1
12-49448456-A-C c.255T>G p.F85L Missense 4/55 - 1
12-49448461-G-A c.250C>T p.R84C Missense 4/55 - 1
12-49448463-C-T c.248G>A p.R83Q Missense 4/55 - 1
12-49448465-TAG-CAT c.244_246delinsATG p.L82M Missense 4/55 - 1
12-49448470-C-T c.241G>A p.E81K Missense 4/55 - 1
12-49448489-GG-TT c.221_222delinsAA p.P74Q Missense 4/55 - 1
12-49448505-C-G c.206G>C p.C69S Missense 4/55 - 2
12-49448510-A-T c.201T>A p.A67= Synonymous 4/55 - 1
12-49448510-A-G c.201T>C p.A67= Synonymous 4/55 - 1
12-49448510-A-C c.201T>G p.A67= Synonymous 4/55 - 1
12-49448511-GC-AA c.199_200delinsTT p.A67F Missense 4/55 - 1
12-49448519-CCG-ACA c.190_192delinsTGT p.R64C Missense 4/55 - 1
12-49448526-G-A c.185C>T p.P62L Missense 4/55 - 1
12-49448528-ACC-CTT c.181_183delinsAAG p.G61K Missense 4/55 - 1
12-49448532-C-A c.179G>T p.G60V Missense 4/55 - 1
12-49448683-C-G c.176G>C p.S59T Missense 3/55 - 1
12-49448693-G-A c.166C>T p.Q56* Nonsense 3/55 - 3
12-49448723-AACT-A c.133_135del p.S46del InFrameDeletion 3/55 - 1
12-49448725-CT-AA c.133_134delinsTT p.S45F Missense 3/55 - 1
12-49448725-CT-TA c.133_134delinsTA p.S45Y Missense 3/55 - 1
12-49448732-C-G c.127G>C p.V43L Missense 3/55 - 1
12-49448748-A-T c.111T>A p.H37Q Missense 3/55 - 1
12-49448748-A-C c.111T>G p.H37Q Missense 3/55 - 1
12-49448758-G-C c.101C>G p.P34R Missense 3/55 - 1
12-49448759-G-C c.100C>G p.P34A Missense 3/55 - 1
12-49448763-G-C c.96C>G p.D32E Missense 3/55 - 2
12-49448765-C-T c.94G>A p.D32N Missense 3/55 - 1
12-49448767-G-C c.92C>G p.S31* Nonsense 3/55 - 5
12-49448767-G-T c.92C>A p.S31* Nonsense 3/55 - 3
12-49448794-GC-AA c.64_65delinsTT p.A22F Missense 3/55 - 1
12-49448795-C-T c.64G>A p.A22T Missense 3/55 - 1
12-49448796-TGC-ACA c.61_63delinsTGT p.A21C Missense 3/55 - 1
12-49448799-A-C c.60T>G p.P20= Synonymous 3/55 - 1
12-49448799-A-T c.60T>A p.P20= Synonymous 3/55 - 1
12-49448799-A-G c.60T>C p.P20= Synonymous 3/55 - 1
12-49449064-G-A c.44C>T p.P15L Missense 2/55 - 1
12-49449069-TG-AC c.38_39delinsGT p.S13C Missense 2/55 - 1
12-49449070-GA-TC c.37_38inv p.S13E Missense 2/55 - 1
12-49449071-A-C c.37T>G p.S13A Missense 2/55 - 3
12-49449077-T-C c.31A>G p.K11E Missense 2/55 - 1
12-49449080-C-G c.28G>C p.D10H Missense 2/55 - 1
12-49449096-C-T c.12G>A p.Q4= Synonymous 2/55 - 1
12-49449103-T-C c.5A>G p.D2G Missense 2/55 - 1