KMT2C lysine methyltransferase 2C

Annotation transcript: NM_170606.3

2018 unique variant annotations were identified in 587 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-151833692-T-C c.*225A>G - 3-UTRSNV 59/59 - 1
7-151833692-T-G c.*225A>C - 3-UTRSNV 59/59 - 1
7-151833921-T-C c.14732A>G p.N4911S Missense 59/59 - 1
7-151833955-G-T c.14698C>A p.H4900N Missense 59/59 - 1
7-151833978-T-C c.14675A>G p.D4892G Missense 59/59 - 1
7-151833982-C-G c.14671G>C p.E4891Q Missense 59/59 - 1
7-151833990-AA-CC c.14662_14663delinsGG p.F4888G Missense 59/59 - 1
7-151833993-TT-CC c.14659_14660delinsGG p.K4887G Missense 59/59 - 1
7-151833996-T-C c.14657A>G p.Y4886C Missense 59/59 - 1
7-151834002-T-C c.14651A>G p.Y4884C Missense 59/59 - 2
7-151835893-CTG-ATA c.14629_14631delinsTAT p.Q4877Y Missense 58/59 - 1
7-151835900-C-T c.14624G>A p.R4875K Missense 58/59 - 1
7-151835903-C-T c.14621G>A p.R4874Q Missense 58/59 - 1
7-151835904-G-A c.14620C>T p.R4874W Missense 58/59 - 1
7-151835904-G-C c.14620C>G p.R4874G Missense 58/59 - 1
7-151835925-T-A c.14599A>T p.K4867* Nonsense 58/59 - 1
7-151835927-T-C c.14597A>G p.H4866R Missense 58/59 - 1
7-151835933-C-G c.14591G>C p.R4864T Missense 58/59 - 1
7-151835945-A-G c.14579T>C p.V4860A Missense 58/59 - 1
7-151835946-C-T c.14578G>A p.V4860M Missense 58/59 - 1
7-151835966-G-T c.14558C>A p.P4853H Missense 58/59 - 1
7-151835974-C-A c.14550G>T p.S4850= Synonymous 58/59 - 1
7-151835974-C-G c.14550G>C p.S4850= Synonymous 58/59 - 1
7-151835974-C-T c.14550G>A p.S4850= Synonymous 58/59 - 1
7-151835975-G-A c.14549C>T p.S4850L Missense 58/59 - 2
7-151835976-A-C c.14548T>G p.S4850A Missense 58/59 - 1
7-151835981-T-C c.14543A>G p.N4848S Missense 58/59 - 1
7-151835981-TT-GC c.14542_14543delinsGC p.N4848A Missense 58/59 - 2
7-151836275-C-T c.14530G>A p.A4844T Missense 57/59 - 1
7-151836280-C-G c.14525G>C p.G4842A Missense 57/59 - 1
7-151836278-G-GC c.14526dup p.P4843Afs*12 Frameshift 57/59 - 2
7-151836284-C-T c.14521G>A p.G4841R Missense 57/59 - 1
7-151836311-C-G c.14494G>C p.D4832H Missense 57/59 - 1
7-151836311-C-T c.14494G>A p.D4832N Missense 57/59 - 1
7-151836322-C-T c.14483G>A p.R4828H Missense 57/59 - 3
7-151836323-G-A c.14482C>T p.R4828C Missense 57/59 - 1
7-151836336-ACC-TTG c.14467_14469delinsCAA p.G4823Q Missense 57/59 - 1
7-151836334-ACAC-A c.14468_14470del p.G4823del InFrameDeletion 57/59 - 1
7-151836340-C-T c.14465G>A p.R4822H Missense 57/59 - 1
7-151836776-CTT-C c.14443_14444del p.K4815Afs*3 Frameshift 56/59 - 1
7-151836785-C-A c.14435G>T p.R4812M Missense 56/59 - 1
7-151836794-A-T c.14426T>A p.V4809E Missense 56/59 - 1
7-151836798-C-G c.14422G>C p.E4808Q Missense 56/59 - 1
7-151836803-C-T c.14417G>A p.R4806Q Missense 56/59 - 1
7-151836804-G-C c.14416C>G p.R4806G Missense 56/59 - 1
7-151836809-GA-G c.14411del p.I4804Tfs*6 Frameshift 56/59 - 1
7-151836816-C-T c.14404G>A p.G4802R Missense 56/59 - 3
7-151836818-A-G c.14402T>C p.I4801T Missense 56/59 - 1
7-151836826-A-C c.14394T>G p.I4798M Missense 56/59 - 1
7-151836831-C-T c.14389G>A p.V4797I Missense 56/59 - 1
7-151836837-T-G c.14383A>C p.T4795P Missense 56/59 - 1
7-151836846-C-G c.14374G>C p.E4792Q Missense 56/59 - 1
7-151836852-C-A c.14368G>T p.D4790Y Missense 56/59 - 1
7-151836863-T-A c.14357A>T p.Y4786F Missense 56/59 - 1
7-151836865-C-CA c.14354dup p.Y4786Vfs*7 Frameshift 56/59 - 1
7-151841802-A-G c.14339T>C p.I4780T Missense 55/59 - 1
7-151841805-C-G c.14336G>C p.R4779P Missense 55/59 - 1
7-151841805-C-T c.14336G>A p.R4779Q Missense 55/59 - 1
7-151841811-C-T c.14330G>A p.R4777Q Missense 55/59 - 1
7-151841815-C-G c.14326G>C p.A4776P Missense 55/59 - 1
7-151841818-G-T c.14323C>A p.L4775M Missense 55/59 - 1
7-151841820-TA-CC c.14320_14321delinsGG p.Y4774G Missense 55/59 - 1
7-151841823-A-G c.14318T>C p.V4773A Missense 55/59 - 1
7-151841826-T-C c.14315A>G p.N4772S Missense 55/59 - 1
7-151841829-G-T c.14312C>A p.S4771Y Missense 55/59 - 1
7-151841838-T-C c.14303A>G p.E4768G Missense 55/59 - 1
7-151841844-T-G c.14297A>C p.K4766T Missense 55/59 - 1
7-151841853-C-T c.14288G>A p.R4763Q Missense 55/59 - 1
7-151841854-G-C c.14287C>G p.R4763G Missense 55/59 - 1
7-151841871-G-C c.14270C>G p.S4757C Missense 55/59 - 1
7-151841899-C-T c.14242G>A p.A4748T Missense 55/59 - 1
7-151841908-C-G c.14233G>C p.E4745Q Missense 55/59 - 1
7-151842243-C-CTTA c.14168_14169insTAA p.V4723_L4724insK InFrameInsertion 54/59 - 1
7-151842262-G-C c.14150C>G p.A4717G Missense 54/59 - 1
7-151842277-T-A c.14135A>T p.E4712V Missense 54/59 - 1
7-151842282-A-ACTTTGGGGGCCCT c.14129_14130insAGGGCCCCCAAAG p.S4711Gfs*6 Frameshift 54/59 - 1
7-151842283-C-G c.14129G>C p.R4710P Missense 54/59 - 1
7-151842283-CG-GC c.14128_14129delinsGC p.R4710A Missense 54/59 - 2
7-151842283-C-T c.14129G>A p.R4710H Missense 54/59 - 1
7-151842284-G-A c.14128C>T p.R4710C Missense 54/59 - 1
7-151842283-CG-C c.14128del p.R4710Vfs*6 Frameshift 54/59 - 1
7-151842286-G-A c.14126C>T p.A4709V Missense 54/59 - 1
7-151842286-G-C c.14126C>G p.A4709G Missense 54/59 - 1
7-151842287-C-A c.14125G>T p.A4709S Missense 54/59 - 2
7-151842289-C-G c.14123G>C p.C4708S Missense 54/59 - 1
7-151842290-A-T c.14122T>A p.C4708S Missense 54/59 - 1
7-151842295-G-A c.14117C>T p.T4706I Missense 54/59 - 1
7-151842311-G-A c.14101C>T p.L4701F Missense 54/59 - 1
7-151842311-G-T c.14101C>A p.L4701I Missense 54/59 - 1
7-151842320-C-T c.14092G>A p.E4698K Missense 54/59 - 1
7-151842334-C-T c.14078G>A p.R4693Q Missense 54/59 - 3
7-151842335-G-A c.14077C>T p.R4693* Nonsense 54/59 - 2
7-151842338-C-T c.14074G>A p.G4692S Missense 54/59 - 1
7-151842339-G-C c.14073C>G p.Y4691* Nonsense 54/59 - 3
7-151842339-G-T c.14073C>A p.Y4691* Nonsense 54/59 - 5
7-151842343-C-G c.14069G>C p.R4690P Missense 54/59 - 1
7-151842343-C-T c.14069G>A p.R4690Q Missense 54/59 - 1
7-151842344-G-A c.14068C>T p.R4690* Nonsense 54/59 - 2
7-151842350-T-G c.14062A>C p.T4688P Missense 54/59 - 1
7-151842355-T-C c.14057A>G p.N4686S Missense 54/59 - 3
7-151842359-C-T c.14053G>A p.E4685K Missense 54/59 - 1
7-151843689-C-T c.14026G>A p.E4676K Missense 53/59 - 1
7-151843691-G-A c.14024C>T p.A4675V Missense 53/59 - 1
7-151843697-C-T c.14018G>A p.R4673H Missense 53/59 - 1
7-151843698-G-A c.14017C>T p.R4673C Missense 53/59 - 1
7-151843706-G-A c.14009C>T p.A4670V Missense 53/59 - 1
7-151843717-CAGGCCAA-C c.13991_13997del p.F4664* Frameshift 53/59 - 1
7-151843724-A-ATT c.13990_13991insAA p.F4664* Nonsense 53/59 - 1
7-151843728-G-T c.13987C>A p.L4663M Missense 53/59 - 1
7-151843731-C-A c.13984G>T p.D4662Y Missense 53/59 - 1
7-151843736-C-G c.13979G>C p.G4660A Missense 53/59 - 1
7-151843741-T-TA c.13973dup p.L4658Ffs*25 Frameshift 53/59 - 1
7-151843751-G-A c.13964C>T p.P4655L Missense 53/59 - 1
7-151843772-G-T c.13943C>A p.S4648Y Missense 53/59 - 1
7-151843773-A-G c.13942T>C p.S4648P Missense 53/59 - 1
7-151843776-T-TA c.13938_13939insT p.K4647* Nonsense 53/59 - 1
7-151843778-TTTCTCACACA-T c.13927_13936del p.C4643Kfs*13 Frameshift 53/59 - 1
7-151843784-A-C c.13931T>G p.V4644G Missense 53/59 - 1
7-151845116-A-G c.13894+2T>C - IntronicSNV - 52/58 1
7-151845129-A-G c.13883T>C p.I4628T Missense 52/59 - 1
7-151845145-G-C c.13867C>G p.L4623V Missense 52/59 - 1
7-151845160-GT-G c.13851del p.E4617Dfs*9 Frameshift 52/59 - 1
7-151845195-T-C c.13817A>G p.D4606G Missense 52/59 - 1
7-151845196-C-T c.13816G>A p.D4606N Missense 52/59 - 1
7-151845205-C-A c.13807G>T p.E4603* Nonsense 52/59 - 1
7-151845210-G-A c.13802C>T p.S4601F Missense 52/59 - 1
7-151845229-G-C c.13783C>G p.R4595G Missense 52/59 - 1
7-151845234-T-A c.13778A>T p.N4593I Missense 52/59 - 1
7-151845243-C-T c.13769G>A p.R4590H Missense 52/59 - 1
7-151845250-T-G c.13762A>C p.S4588R Missense 52/59 - 1
7-151845251-C-A c.13761G>T p.W4587C Missense 52/59 - 1
7-151845251-C-G c.13761G>C p.W4587C Missense 52/59 - 3
7-151845251-C-T c.13761G>A p.W4587* Nonsense 52/59 - 1
7-151845252-C-T c.13760G>A p.W4587* Nonsense 52/59 - 1
7-151845254-G-T c.13758C>A p.Y4586* Nonsense 52/59 - 2
7-151845262-G-A c.13750C>T p.R4584W Missense 52/59 - 1
7-151845262-G-C c.13750C>G p.R4584G Missense 52/59 - 1
7-151845324-G-T c.13688C>A p.P4563Q Missense 52/59 - 1
7-151845334-G-A c.13678C>T p.Q4560* Nonsense 52/59 - 1
7-151845366-C-T c.13646G>A p.R4549H Missense 52/59 - 1
7-151845367-G-A c.13645C>T p.R4549C Missense 52/59 - 1
7-151845381-C-T c.13631G>A p.R4544Q Missense 52/59 - 3
7-151845382-G-A c.13630C>T p.R4544W Missense 52/59 - 1
7-151845384-TCTC-T c.13625_13627del p.G4542del InFrameDeletion 52/59 - 1
7-151845397-C-T c.13615G>A p.V4539M Missense 52/59 - 1
7-151845406-C-A c.13606G>T p.A4536S Missense 52/59 - 1
7-151845414-C-T c.13598G>A p.R4533Q Missense 52/59 - 2
7-151845415-G-A c.13597C>T p.R4533* Nonsense 52/59 - 2
7-151845426-C-T c.13586G>A p.R4529H Missense 52/59 - 1
7-151845427-G-A c.13585C>T p.R4529C Missense 52/59 - 1
7-151845443-C-A c.13569G>T p.R4523S Missense 52/59 - 1
7-151845443-C-G c.13569G>C p.R4523S Missense 52/59 - 1
7-151845451-C-T c.13561G>A p.V4521I Missense 52/59 - 1
7-151845462-CT-C c.13549del p.S4517Vfs*109 Frameshift 52/59 - 1
7-151845495-T-G c.13517A>C p.H4506P Missense 52/59 - 1
7-151845498-A-T c.13514T>A p.M4505K Missense 52/59 - 1
7-151845515-T-G c.13497A>C p.K4499N Missense 52/59 - 1
7-151845523-TA-T c.13488del p.F4496Lfs*21 Frameshift 52/59 - 1
7-151845535-A-G c.13477T>C p.C4493R Missense 52/59 - 1
7-151845550-C-T c.13462G>A p.A4488T Missense 52/59 - 1
7-151845561-T-A c.13451A>T p.H4484L Missense 52/59 - 1
7-151845579-C-T c.13433G>A p.R4478Q Missense 52/59 - 1
7-151845580-G-A c.13432C>T p.R4478* Nonsense 52/59 - 2
7-151845591-C-T c.13421G>A p.C4474Y Missense 52/59 - 1
7-151845607-C-A c.13405G>T p.G4469C Missense 52/59 - 1
7-151845626-A-G c.13386T>C p.C4462= Synonymous 52/59 - 1
7-151845628-A-G c.13384T>C p.C4462R Missense 52/59 - 1
7-151845642-C-T c.13370G>A p.G4457D Missense 52/59 - 2
7-151845648-C-A c.13364G>T p.R4455M Missense 52/59 - 1
7-151845693-T-C c.13319A>G p.Y4440C Missense 52/59 - 1
7-151845702-G-A c.13310C>T p.T4437M Missense 52/59 - 2
7-151845709-ACAGAGCG-A c.13296_13302del p.A4433Gfs*13 Frameshift 52/59 - 1
7-151845714-G-A c.13298C>T p.A4433V Missense 52/59 - 3
7-151845715-C-T c.13297G>A p.A4433T Missense 52/59 - 3
7-151845716-G-A c.13296C>T p.C4432= Synonymous 52/59 - 1
7-151845718-A-G c.13294T>C p.C4432R Missense 52/59 - 1
7-151845723-A-C c.13289T>G p.L4430W Missense 52/59 - 1
7-151845723-A-G c.13289T>C p.L4430S Missense 52/59 - 1
7-151845731-C-T c.13281G>A p.W4427* Nonsense 52/59 - 1
7-151845739-C-A c.13273G>T p.D4425Y Missense 52/59 - 1
7-151845742-A-G c.13270T>C p.L4424= Synonymous 52/59 - 1
7-151845746-A-G c.13266T>C p.L4422= Synonymous 52/59 - 1
7-151845758-C-A c.13254G>T p.R4418S Missense 52/59 - 1
7-151845758-C-G c.13254G>C p.R4418S Missense 52/59 - 1
7-151845759-C-A c.13253G>T p.R4418M Missense 52/59 - 1
7-151845766-G-A c.13246C>T p.P4416S Missense 52/59 - 1
7-151845777-A-G c.13235T>C p.L4412S Missense 52/59 - 1
7-151845776-C-T c.13236G>A p.L4412= Synonymous 52/59 - 1
7-151845778-A-G c.13234T>C p.L4412= Synonymous 52/59 - 1
7-151845781-C-G c.13231G>C p.G4411R Missense 52/59 - 2
7-151845781-C-T c.13231G>A p.G4411R Missense 52/59 - 1
7-151845785-A-G c.13227T>C p.G4409= Synonymous 52/59 - 1
7-151845788-T-C c.13224A>G p.E4408= Synonymous 52/59 - 1
7-151845795-T-C c.13217A>G p.H4406R Missense 52/59 - 1
7-151845796-G-T c.13216C>A p.H4406N Missense 52/59 - 1
7-151845799-A-G c.13213T>C p.C4405R Missense 52/59 - 1
7-151845802-A-G c.13210T>C p.F4404L Missense 52/59 - 1
7-151845807-C-T c.13205G>A p.C4402Y Missense 52/59 - 1
7-151845810-T-C c.13202A>G p.K4401R Missense 52/59 - 1
7-151845813-C-T c.13199G>A p.R4400Q Missense 52/59 - 1
7-151845815-A-G c.13197T>C p.Y4399= Synonymous 52/59 - 1
7-151845838-G-A c.13174C>T p.P4392S Missense 52/59 - 1
7-151845871-C-A c.13141G>T p.E4381* Nonsense 52/59 - 1
7-151845871-C-T c.13141G>A p.E4381K Missense 52/59 - 1
7-151845874-C-A c.13138G>T p.D4380Y Missense 52/59 - 1
7-151845886-C-T c.13126G>A p.E4376K Missense 52/59 - 1
7-151845907-C-T c.13105G>A p.G4369R Missense 52/59 - 1
7-151845934-A-G c.13078T>C p.W4360R Missense 52/59 - 1
7-151845941-C-T c.13071G>A p.W4357* Nonsense 52/59 - 2
7-151845942-C-T c.13070G>A p.W4357* Nonsense 52/59 - 1
7-151845948-A-G c.13064T>C p.M4355T Missense 52/59 - 1
7-151845966-T-G c.13046A>C p.N4349T Missense 52/59 - 1
7-151845972-G-A c.13040C>T p.P4347L Missense 52/59 - 1
7-151845982-C-G c.13030G>C p.D4344H Missense 52/59 - 1
7-151845986-A-G c.13026T>C p.F4342= Synonymous 52/59 - 1
7-151845988-A-G c.13024T>C p.F4342L Missense 52/59 - 1
7-151845992-AC-A c.13019del p.G4340Vfs*16 Frameshift 52/59 - 1
7-151845997-G-T c.13015C>A p.H4339N Missense 52/59 - 1
7-151846011-C-T c.13001G>A p.R4334Q Missense 52/59 - 1
7-151846012-G-A c.13000C>T p.R4334W Missense 52/59 - 1
7-151846017-T-C c.12995A>G p.K4332R Missense 52/59 - 1
7-151846033-C-T c.12979G>A p.V4327M Missense 52/59 - 1
7-151846078-C-G c.12934G>C p.A4312P Missense 52/59 - 1
7-151846083-G-A c.12929C>T p.P4310L Missense 52/59 - 1
7-151846114-A-G c.12898T>C p.S4300P Missense 52/59 - 2
7-151846123-C-T c.12889G>A p.E4297K Missense 52/59 - 1
7-151846195-G-GA c.12816_12817insT p.P4273Sfs*42 Frameshift 52/59 - 1
7-151846197-G-A c.12815C>T p.T4272M Missense 52/59 - 1
7-151846201-C-G c.12811G>C p.E4271Q Missense 52/59 - 1
7-151847070-C-T c.12775-833G>A - IntronicSNV - 51/58 1
7-151847753-C-T c.12774+232G>A - IntronicSNV - 51/58 1
7-151847968-G-C c.12774+17C>G - IntronicSNV - 51/58 1
7-151847998-T-G c.12761A>C p.N4254T Missense 51/59 - 1
7-151848074-T-C c.12685A>G p.K4229E Missense 51/59 - 1
7-151848538-G-C c.12655C>G p.L4219V Missense 50/59 - 1
7-151848538-G-T c.12655C>A p.L4219I Missense 50/59 - 1
7-151848544-G-T c.12649C>A p.L4217M Missense 50/59 - 1
7-151848556-GA-G c.12637del p.S4213Lfs*5 Frameshift 50/59 - 1
7-151848561-C-T c.12632G>A p.R4211Q Missense 50/59 - 1
7-151848562-G-A c.12631C>T p.R4211W Missense 50/59 - 2
7-151848568-C-G c.12625G>C p.G4209R Missense 50/59 - 1
7-151848570-C-A c.12623G>T p.S4208I Missense 50/59 - 1
7-151848581-AACCACTTTACAATGACAAC-A c.12593_12611del p.C4198Lfs*14 Frameshift 50/59 - 1
7-151848594-T-G c.12599A>C p.H4200P Missense 50/59 - 1
7-151848626-TTC-T c.12565_12566del p.E4189Kfs*13 Frameshift 50/59 - 1
7-151848636-C-T c.12557G>A p.G4186D Missense 50/59 - 3
7-151848639-T-C c.12554A>G p.H4185R Missense 50/59 - 1
7-151848649-C-T c.12544G>A p.D4182N Missense 50/59 - 1
7-151848650-C-A c.12543G>T p.K4181N Missense 50/59 - 1
7-151848650-C-G c.12543G>C p.K4181N Missense 50/59 - 1
7-151848657-C-T c.12536G>A p.G4179E Missense 50/59 - 1
7-151849846-A-C c.12470T>G p.L4157* Nonsense 49/59 - 1
7-151849846-A-T c.12470T>A p.L4157* Nonsense 49/59 - 1
7-151849862-C-G c.12454G>C p.A4152P Missense 49/59 - 1
7-151849873-G-A c.12443C>T p.P4148L Missense 49/59 - 1
7-151849882-C-T c.12434G>A p.R4145H Missense 49/59 - 1
7-151849883-G-A c.12433C>T p.R4145C Missense 49/59 - 3
7-151849884-G-A c.12432C>T p.L4144= Synonymous 49/59 - 1
7-151849884-G-C c.12432C>G p.L4144= Synonymous 49/59 - 1
7-151849884-G-T c.12432C>A p.L4144= Synonymous 49/59 - 1
7-151849886-G-C c.12430C>G p.L4144V Missense 49/59 - 1
7-151849900-C-T c.12416G>A p.R4139Q Missense 49/59 - 1
7-151849901-G-A c.12415C>T p.R4139* Nonsense 49/59 - 3
7-151849909-A-T c.12407T>A p.L4136* Nonsense 49/59 - 1
7-151849906-TCCAAACCCGGGTTGATTCTGTGGCTACTGA-T c.12380_12409del p.V4127_L4136del InFrameDeletion 49/59 - 1
7-151849924-C-T c.12392G>A p.R4131K Missense 49/59 - 1
7-151849933-C-A c.12383G>T p.S4128I Missense 49/59 - 1
7-151849938-C-A c.12378G>T p.L4126F Missense 49/59 - 1
7-151849938-C-G c.12378G>C p.L4126F Missense 49/59 - 1
7-151849951-G-T c.12365C>A p.P4122Q Missense 49/59 - 1
7-151849952-G-C c.12364C>G p.P4122A Missense 49/59 - 1
7-151849960-G-A c.12356C>T p.P4119L Missense 49/59 - 1
7-151849973-C-T c.12343G>A p.V4115I Missense 49/59 - 1
7-151849974-C-A c.12342G>T p.E4114D Missense 49/59 - 1
7-151849981-C-A c.12335G>T p.S4112I Missense 49/59 - 1
7-151849993-C-T c.12323G>A p.R4108Q Missense 49/59 - 1
7-151849994-G-A c.12322C>T p.R4108* Nonsense 49/59 - 1
7-151849999-T-A c.12317A>T p.H4106L Missense 49/59 - 1
7-151850002-A-G c.12314T>C p.L4105P Missense 49/59 - 1
7-151849999-TGAA-T c.12314_12316del p.L4105del InFrameDeletion 49/59 - 1
7-151850008-T-C c.12308A>G p.D4103G Missense 49/59 - 1
7-151850018-C-T c.12298G>A p.A4100T Missense 49/59 - 1
7-151851117-G-A c.12254C>T p.T4085I Missense 48/59 - 1
7-151851125-TAC-T c.12244_12245del p.V4082Sfs*10 Frameshift 48/59 - 1
7-151851129-G-GA c.12241dup p.S4081Ffs*12 Frameshift 48/59 - 1
7-151851132-A-T c.12239T>A p.I4080K Missense 48/59 - 1
7-151851139-C-A c.12232G>T p.G4078C Missense 48/59 - 1
7-151851141-G-C c.12230C>G p.S4077* Nonsense 48/59 - 1
7-151851141-G-T c.12230C>A p.S4077* Nonsense 48/59 - 1
7-151851147-G-C c.12224C>G p.P4075R Missense 48/59 - 1
7-151851147-GGGACCATT-G c.12217_12224del p.N4073Qfs*17 Frameshift 48/59 - 1
7-151851165-CC-TT c.12205_12206delinsAA p.G4069N Missense 48/59 - 1
7-151851198-T-C c.12173A>G p.E4058G Missense 48/59 - 1
7-151851204-T-C c.12167A>G p.K4056R Missense 48/59 - 1
7-151851216-CT-TA c.12154_12155delinsTA p.R4052* Nonsense 48/59 - 1
7-151851226-C-A c.12145G>T p.E4049* Nonsense 48/59 - 1
7-151851367-T-TA c.12123dup p.S4042* Nonsense 47/59 - 1
7-151851369-G-A c.12122C>T p.P4041L Missense 47/59 - 1
7-151851370-G-A c.12121C>T p.P4041S Missense 47/59 - 1
7-151851370-G-T c.12121C>A p.P4041T Missense 47/59 - 1
7-151851372-A-G c.12119T>C p.L4040P Missense 47/59 - 1
7-151851379-G-A c.12112C>T p.P4038S Missense 47/59 - 1
7-151851381-A-C c.12110T>G p.I4037S Missense 47/59 - 1
7-151851397-C-T c.12094G>A p.V4032M Missense 47/59 - 1
7-151851399-G-A c.12092C>T p.P4031L Missense 47/59 - 1
7-151851415-C-A c.12076G>T p.E4026* Nonsense 47/59 - 1
7-151851435-G-T c.12056C>A p.P4019Q Missense 47/59 - 1
7-151851456-C-A c.12035G>T p.G4012V Missense 47/59 - 1
7-151851463-C-T c.12028G>A p.V4010M Missense 47/59 - 1
7-151851471-G-C c.12020C>G p.P4007R Missense 47/59 - 1
7-151851477-G-A c.12014C>T p.S4005F Missense 47/59 - 1
7-151851482-G-A c.12009C>T p.P4003= Synonymous 47/59 - 1
7-151851482-G-C c.12009C>G p.P4003= Synonymous 47/59 - 1
7-151851482-G-T c.12009C>A p.P4003= Synonymous 47/59 - 1
7-151851484-G-A c.12007C>T p.P4003S Missense 47/59 - 1
7-151851487-C-T c.12004G>A p.V4002I Missense 47/59 - 1
7-151851499-G-A c.11992C>T p.P3998S Missense 47/59 - 1
7-151851508-G-A c.11983C>T p.R3995* Nonsense 47/59 - 3
7-151851523-C-G c.11968G>C p.D3990H Missense 47/59 - 1
7-151853028-G-T c.11927C>A p.P3976Q Missense 46/59 - 1
7-151853029-G-A c.11926C>T p.P3976S Missense 46/59 - 1
7-151853040-G-T c.11915C>A p.P3972Q Missense 46/59 - 1
7-151853050-C-T c.11905G>A p.V3969I Missense 46/59 - 1
7-151853056-T-TG c.11898dup p.K3967Qfs*4 Frameshift 46/59 - 1
7-151853063-C-A c.11892G>T p.Q3964H Missense 46/59 - 1
7-151853063-C-G c.11892G>C p.Q3964H Missense 46/59 - 1
7-151853065-G-A c.11890C>T p.Q3964* Nonsense 46/59 - 1
7-151853068-C-G c.11887G>C p.A3963P Missense 46/59 - 1
7-151853077-G-A c.11878C>T p.R3960* Nonsense 46/59 - 3
7-151853079-G-A c.11876C>T p.A3959V Missense 46/59 - 1
7-151853094-T-A c.11861A>T p.Q3954L Missense 46/59 - 1
7-151853104-A-G c.11851T>C p.F3951L Missense 46/59 - 1
7-151853106-G-A c.11849C>T p.P3950L Missense 46/59 - 1
7-151853288-A-G c.11812+2T>C - IntronicSNV - 45/58 1
7-151853290-C-A c.11812G>T p.V3938F Missense 45/59 - 1
7-151853290-C-T c.11812G>A p.V3938I Missense 45/59 - 1
7-151853311-C-T c.11791G>A p.G3931R Missense 45/59 - 3
7-151853314-C-T c.11788G>A p.A3930T Missense 45/59 - 1
7-151853323-C-CA c.11778dup p.A3927Cfs*11 Frameshift 45/59 - 1
7-151853332-C-A c.11770G>T p.E3924* Nonsense 45/59 - 1
7-151853340-G-A c.11762C>T p.A3921V Missense 45/59 - 2
7-151853346-C-T c.11756G>A p.G3919D Missense 45/59 - 1
7-151853347-C-G c.11755G>C p.G3919R Missense 45/59 - 1
7-151853347-C-T c.11755G>A p.G3919S Missense 45/59 - 1
7-151853386-G-A c.11716C>T p.P3906S Missense 45/59 - 1
7-151853391-A-C c.11711T>G p.L3904R Missense 45/59 - 1
7-151853404-G-T c.11698C>A p.P3900T Missense 45/59 - 1
7-151853412-G-A c.11690C>T p.P3897L Missense 45/59 - 1
7-151854961-G-A c.11670+987C>T - IntronicSNV - 44/58 1
7-151855880-A-G c.11670+68T>C - IntronicSNV - 44/58 1
7-151855949-CT-C c.11669del p.Q3890Rfs*5 Frameshift 44/59 - 1
7-151855953-T-G c.11665A>C p.K3889Q Missense 44/59 - 1
7-151855959-G-A c.11659C>T p.H3887Y Missense 44/59 - 1
7-151855967-G-A c.11651C>T p.T3884M Missense 44/59 - 1
7-151855980-A-ACTTGT c.11637_11638insACAAG p.S3880Tfs*11 Frameshift 44/59 - 1
7-151855992-G-T c.11626C>A p.Q3876K Missense 44/59 - 1
7-151856001-C-G c.11617G>C p.E3873Q Missense 44/59 - 2
7-151855999-CTCT-C c.11616_11618del p.E3874del InFrameDeletion 44/59 - 1
7-151856004-C-T c.11614G>A p.E3872K Missense 44/59 - 1
7-151856009-T-C c.11609A>G p.K3870R Missense 44/59 - 2
7-151856015-C-A c.11603G>T p.R3868M Missense 44/59 - 1
7-151856023-TG-AA c.11594_11595delinsTT p.S3865F Missense 44/59 - 1
7-151856024-G-C c.11594C>G p.S3865* Nonsense 44/59 - 1
7-151856024-G-T c.11594C>A p.S3865* Nonsense 44/59 - 1
7-151856026-GC-TT c.11591_11592delinsAA p.R3864Q Missense 44/59 - 1
7-151856027-C-T c.11591G>A p.R3864H Missense 44/59 - 1
7-151856028-G-A c.11590C>T p.R3864C Missense 44/59 - 2
7-151856031-G-T c.11587C>A p.P3863T Missense 44/59 - 1
7-151856044-A-T c.11574T>A p.G3858= Synonymous 44/59 - 1
7-151856046-C-A c.11572G>T p.G3858C Missense 44/59 - 1
7-151856055-G-A c.11563C>T p.Q3855* Nonsense 44/59 - 1
7-151856056-A-C c.11562T>G p.T3854= Synonymous 44/59 - 1
7-151856056-A-G c.11562T>C p.T3854= Synonymous 44/59 - 1
7-151856056-A-T c.11562T>A p.T3854= Synonymous 44/59 - 1
7-151856060-C-T c.11558G>A p.R3853Q Missense 44/59 - 1
7-151856061-G-C c.11557C>G p.R3853G Missense 44/59 - 1
7-151856069-C-T c.11549G>A p.R3850Q Missense 44/59 - 2
7-151856070-G-A c.11548C>T p.R3850* Nonsense 44/59 - 2
7-151856077-C-A c.11541G>T p.K3847N Missense 44/59 - 1
7-151856077-C-G c.11541G>C p.K3847N Missense 44/59 - 1
7-151856081-GT-G c.11536del p.T3846Pfs*43 Frameshift 44/59 - 1
7-151856106-G-A c.11512C>T p.P3838S Missense 44/59 - 1
7-151856121-A-C c.11497T>G p.C3833G Missense 44/59 - 1
7-151856148-C-G c.11470G>C p.G3824R Missense 44/59 - 1
7-151858911-TTAGTCATATCAACTCAATGTGGTAATAACCAGTTGCTACACATCACGTTATATATGAAA-T c.11460+233_11460+291del - SpliceDonorDeletion - 43/58 1
7-151859208-T-C c.11454A>G p.E3818= Synonymous 43/59 - 1
7-151859210-C-T c.11452G>A p.E3818K Missense 43/59 - 1
7-151859214-T-G c.11448A>C p.P3816= Synonymous 43/59 - 1
7-151859239-T-G c.11423A>C p.N3808T Missense 43/59 - 1
7-151859235-TTTA-T c.11424_11426del p.N3808del InFrameDeletion 43/59 - 1
7-151859243-C-CA c.11418_11419insT p.D3807* Nonsense 43/59 - 1
7-151859249-TAC-T c.11411_11412del p.C3804Yfs*4 Frameshift 43/59 - 1
7-151859261-C-A c.11401G>T p.E3801* Nonsense 43/59 - 1
7-151859288-G-T c.11374C>A p.Q3792K Missense 43/59 - 1
7-151859301-AAGATGACTTTT-A c.11351_11361del p.K3784Ifs*8 Frameshift 43/59 - 1
7-151859327-G-C c.11335C>G p.H3779D Missense 43/59 - 1
7-151859345-C-A c.11317G>T p.G3773W Missense 43/59 - 1
7-151859354-C-T c.11308G>A p.G3770R Missense 43/59 - 1
7-151859386-G-A c.11276C>T p.P3759L Missense 43/59 - 1
7-151859398-G-A c.11264C>T p.S3755L Missense 43/59 - 1
7-151859453-C-A c.11209G>T p.E3737* Nonsense 43/59 - 1
7-151859489-T-TTC c.11172_11173insGA p.T3725Efs*21 Frameshift 43/59 - 1
7-151859492-C-A c.11170G>T p.E3724* Nonsense 43/59 - 1
7-151859492-C-T c.11170G>A p.E3724K Missense 43/59 - 1
7-151859501-C-A c.11161G>T p.E3721* Nonsense 43/59 - 1
7-151859506-T-A c.11156A>T p.K3719I Missense 43/59 - 1
7-151859507-T-G c.11155A>C p.K3719Q Missense 43/59 - 1
7-151859513-C-T c.11149G>A p.E3717K Missense 43/59 - 1
7-151859516-C-G c.11146G>C p.E3716Q Missense 43/59 - 1
7-151859521-T-G c.11141A>C p.K3714T Missense 43/59 - 1
7-151859523-G-A c.11139C>T p.A3713= Synonymous 43/59 - 1
7-151859523-G-C c.11139C>G p.A3713= Synonymous 43/59 - 1
7-151859523-G-T c.11139C>A p.A3713= Synonymous 43/59 - 1
7-151859525-C-A c.11137G>T p.A3713S Missense 43/59 - 1
7-151859554-T-A c.11108A>T p.E3703V Missense 43/59 - 1
7-151859569-G-A c.11093C>T p.T3698M Missense 43/59 - 2
7-151859578-T-A c.11084A>T p.N3695I Missense 43/59 - 1
7-151859588-C-T c.11074G>A p.A3692T Missense 43/59 - 3
7-151859602-C-A c.11060G>T p.S3687I Missense 43/59 - 1
7-151859619-C-G c.11043G>C p.E3681D Missense 43/59 - 1
7-151859619-CTCTAAT-C c.11037_11042del p.L3680_E3681del InFrameDeletion 43/59 - 1
7-151859633-A-G c.11029T>C p.C3677R Missense 43/59 - 1
7-151859639-G-A c.11023C>T p.Q3675* Nonsense 43/59 - 1
7-151859653-T-C c.11009A>G p.N3670S Missense 43/59 - 2
7-151859668-C-G c.10994G>C p.G3665A Missense 43/59 - 1
7-151859677-TCCA-T c.10982_10984del p.V3661del InFrameDeletion 43/59 - 1
7-151859683-G-A c.10979C>T p.S3660L Missense 43/59 - 9
7-151859683-G-T c.10979C>A p.S3660* Nonsense 43/59 - 1
7-151859702-G-A c.10960C>T p.Q3654* Nonsense 43/59 - 1
7-151859702-G-C c.10960C>G p.Q3654E Missense 43/59 - 1
7-151859747-C-A c.10915G>T p.E3639* Nonsense 43/59 - 1
7-151859749-G-C c.10913C>G p.S3638* Nonsense 43/59 - 1
7-151859755-C-T c.10907G>A p.G3636D Missense 43/59 - 1
7-151859771-C-T c.10891G>A p.A3631T Missense 43/59 - 1
7-151859777-T-C c.10885A>G p.I3629V Missense 43/59 - 1
7-151859782-G-C c.10880C>G p.S3627* Nonsense 43/59 - 2
7-151859782-G-T c.10880C>A p.S3627* Nonsense 43/59 - 1
7-151859788-G-A c.10874C>T p.P3625L Missense 43/59 - 1
7-151859792-T-G c.10870A>C p.T3624P Missense 43/59 - 1
7-151859795-A-T c.10867T>A p.S3623T Missense 43/59 - 1
7-151859818-T-C c.10844A>G p.D3615G Missense 43/59 - 1
7-151859839-C-A c.10823G>T p.R3608I Missense 43/59 - 1
7-151859846-TTTTC-T c.10812_10815del p.K3605Efs*24 Frameshift 43/59 - 1
7-151859849-T-TC c.10812dup p.K3605Efs*10 Frameshift 43/59 - 1
7-151859855-T-C c.10807A>G p.K3603E Missense 43/59 - 1
7-151859861-T-A c.10801A>T p.K3601* Nonsense 43/59 - 2
7-151859870-G-T c.10792C>A p.P3598T Missense 43/59 - 1
7-151859879-C-A c.10783G>T p.D3595Y Missense 43/59 - 1
7-151859884-T-C c.10778A>G p.Y3593C Missense 43/59 - 1
7-151859885-A-G c.10777T>C p.Y3593H Missense 43/59 - 1
7-151859889-C-A c.10773G>T p.Q3591H Missense 43/59 - 1
7-151859889-C-G c.10773G>C p.Q3591H Missense 43/59 - 1
7-151859891-G-A c.10771C>T p.Q3591* Nonsense 43/59 - 1
7-151859894-T-G c.10768A>C p.I3590L Missense 43/59 - 1
7-151859897-G-A c.10765C>T p.L3589F Missense 43/59 - 1
7-151859899-G-A c.10763C>T p.S3588L Missense 43/59 - 2
7-151859908-G-C c.10754C>G p.S3585* Nonsense 43/59 - 1
7-151859908-G-T c.10754C>A p.S3585* Nonsense 43/59 - 1
7-151859911-C-A c.10751G>T p.G3584V Missense 43/59 - 1
7-151859914-G-A c.10748C>T p.P3583L Missense 43/59 - 1
7-151859939-T-C c.10723A>G p.T3575A Missense 43/59 - 1
7-151859940-A-G c.10722T>C p.S3574= Synonymous 43/59 - 1
7-151859956-G-T c.10706C>A p.P3569Q Missense 43/59 - 1
7-151859965-C-A c.10697G>T p.S3566I Missense 43/59 - 1
7-151859979-A-C c.10683T>G p.P3561= Synonymous 43/59 - 1
7-151859981-G-A c.10681C>T p.P3561S Missense 43/59 - 1
7-151859998-G-C c.10664C>G p.P3555R Missense 43/59 - 1
7-151859999-G-T c.10663C>A p.P3555T Missense 43/59 - 1
7-151860023-A-G c.10639T>C p.S3547P Missense 43/59 - 2
7-151860026-G-A c.10636C>T p.Q3546* Nonsense 43/59 - 1
7-151860029-G-A c.10633C>T p.Q3545* Nonsense 43/59 - 1
7-151860060-C-A c.10602G>T p.Q3534H Missense 43/59 - 1
7-151860060-C-G c.10602G>C p.Q3534H Missense 43/59 - 1
7-151860068-CAG-C c.10592_10593del p.S3531Cfs*34 Frameshift 43/59 - 1
7-151860089-C-T c.10573G>A p.G3525R Missense 43/59 - 1
7-151860091-A-G c.10571T>C p.V3524A Missense 43/59 - 1
7-151860092-C-A c.10570G>T p.V3524F Missense 43/59 - 1
7-151860109-T-G c.10553A>C p.D3518A Missense 43/59 - 1
7-151860110-C-G c.10552G>C p.D3518H Missense 43/59 - 1
7-151860143-G-A c.10519C>T p.R3507* Nonsense 43/59 - 4
7-151860170-TG-T c.10491del p.T3498Pfs*13 Frameshift 43/59 - 1
7-151860190-C-T c.10472G>A p.G3491E Missense 43/59 - 1
7-151860191-CTTG-C c.10468_10470del p.Q3490del InFrameDeletion 43/59 - 1
7-151860200-T-C c.10462A>G p.I3488V Missense 43/59 - 1
7-151860214-A-G c.10448T>C p.L3483S Missense 43/59 - 1
7-151860222-C-T c.10440G>A p.G3480= Synonymous 43/59 - 1
7-151860230-G-C c.10432C>G p.Q3478E Missense 43/59 - 4
7-151860235-T-TG c.10426dup p.Q3476Pfs*19 Frameshift 43/59 - 1
7-151860248-ACTG-A c.10411_10413del p.Q3471del InFrameDeletion 43/59 - 1
7-151860256-A-C c.10406T>G p.L3469R Missense 43/59 - 1
7-151860259-G-A c.10403C>T p.P3468L Missense 43/59 - 1
7-151860279-A-C c.10383T>G p.D3461E Missense 43/59 - 1
7-151860291-G-C c.10371C>G p.D3457E Missense 43/59 - 1
7-151860291-G-T c.10371C>A p.D3457E Missense 43/59 - 1
7-151860307-G-A c.10355C>T p.P3452L Missense 43/59 - 1
7-151860307-GG-AA c.10354_10355delinsTT p.P3452F Missense 43/59 - 1
7-151860322-G-T c.10340C>A p.S3447Y Missense 43/59 - 1
7-151860349-C-T c.10313G>A p.G3438D Missense 43/59 - 1
7-151860374-C-A c.10288G>T p.E3430* Nonsense 43/59 - 1
7-151860379-C-A c.10283G>T p.R3428M Missense 43/59 - 1
7-151860385-T-C c.10277A>G p.Q3426R Missense 43/59 - 1
7-151860392-C-T c.10270G>A p.A3424T Missense 43/59 - 3
7-151860400-C-A c.10262G>T p.R3421I Missense 43/59 - 1
7-151860402-A-G c.10260T>C p.D3420= Synonymous 43/59 - 2
7-151860413-G-T c.10249C>A p.Q3417K Missense 43/59 - 1
7-151860416-T-G c.10246A>C p.M3416L Missense 43/59 - 1
7-151860427-C-T c.10235G>A p.R3412Q Missense 43/59 - 2
7-151860428-G-A c.10234C>T p.R3412W Missense 43/59 - 2
7-151860433-C-T c.10229G>A p.R3410K Missense 43/59 - 1
7-151860431-GTC-G c.10229_10230del p.R3410Tfs*11 Frameshift 43/59 - 1
7-151860437-C-G c.10225G>C p.E3409Q Missense 43/59 - 1
7-151860438-T-A c.10224A>T p.Q3408H Missense 43/59 - 1
7-151860443-G-A c.10219C>T p.Q3407* Nonsense 43/59 - 1
7-151860446-C-T c.10216G>A p.E3406K Missense 43/59 - 1
7-151860448-C-T c.10214G>A p.R3405Q Missense 43/59 - 1
7-151860449-G-A c.10213C>T p.R3405* Nonsense 43/59 - 2
7-151860454-C-T c.10208G>A p.R3403H Missense 43/59 - 3
7-151860455-G-A c.10207C>T p.R3403C Missense 43/59 - 1
7-151860463-C-T c.10199G>A p.R3400H Missense 43/59 - 1
7-151860464-G-A c.10198C>T p.R3400C Missense 43/59 - 1
7-151860467-C-A c.10195G>T p.E3399* Nonsense 43/59 - 1
7-151860470-G-A c.10192C>T p.R3398W Missense 43/59 - 2
7-151860472-T-G c.10190A>C p.E3397A Missense 43/59 - 1
7-151860485-C-T c.10177G>A p.E3393K Missense 43/59 - 1
7-151860490-A-G c.10172T>C p.F3391S Missense 43/59 - 1
7-151860493-G-A c.10169C>T p.P3390L Missense 43/59 - 1
7-151860504-A-C c.10158T>G p.D3386E Missense 43/59 - 1
7-151860504-A-T c.10158T>A p.D3386E Missense 43/59 - 1
7-151860511-T-C c.10151A>G p.E3384G Missense 43/59 - 1
7-151860512-C-A c.10150G>T p.E3384* Nonsense 43/59 - 1
7-151860515-C-A c.10147G>T p.V3383L Missense 43/59 - 1
7-151860517-C-A c.10145G>T p.R3382L Missense 43/59 - 1
7-151860518-G-A c.10144C>T p.R3382W Missense 43/59 - 1
7-151860535-T-C c.10127A>G p.Q3376R Missense 43/59 - 1
7-151860550-G-C c.10112C>G p.S3371* Nonsense 43/59 - 1
7-151860586-G-C c.10076C>G p.P3359R Missense 43/59 - 1
7-151860605-G-C c.10057C>G p.P3353A Missense 43/59 - 1
7-151860608-G-A c.10054C>T p.Q3352* Nonsense 43/59 - 1
7-151860613-C-T c.10049G>A p.R3350K Missense 43/59 - 1
7-151860622-T-C c.10040A>G p.N3347S Missense 43/59 - 1
7-151860628-G-T c.10034C>A p.P3345H Missense 43/59 - 1
7-151860634-T-A c.10028A>T p.H3343L Missense 43/59 - 1
7-151860637-G-A c.10025C>T p.A3342V Missense 43/59 - 1
7-151860638-C-A c.10024G>T p.A3342S Missense 43/59 - 1
7-151860641-G-A c.10021C>T p.P3341S Missense 43/59 - 1
7-151860652-G-C c.10010C>G p.P3337R Missense 43/59 - 1
7-151860657-C-T c.10005G>A p.W3335* Nonsense 43/59 - 1
7-151860658-C-T c.10004G>A p.W3335* Nonsense 43/59 - 1
7-151860674-G-A c.9988C>T p.P3330S Missense 43/59 - 1
7-151860675-C-T c.9987G>A p.M3329I Missense 43/59 - 1
7-151860688-C-A c.9974G>T p.S3325I Missense 43/59 - 1
7-151860694-T-C c.9968A>G p.H3323R Missense 43/59 - 1
7-151860697-C-T c.9965G>A p.G3322D Missense 43/59 - 1
7-151860728-G-T c.9934C>A p.Q3312K Missense 43/59 - 1
7-151860731-G-A c.9931C>T p.L3311F Missense 43/59 - 1
7-151860732-C-A c.9930G>T p.Q3310H Missense 43/59 - 1
7-151860732-C-G c.9930G>C p.Q3310H Missense 43/59 - 1
7-151860806-G-A c.9856C>T p.P3286S Missense 43/59 - 1
7-151860808-T-A c.9854A>T p.Q3285L Missense 43/59 - 1
7-151860846-T-C c.9816A>G p.Q3272= Synonymous 43/59 - 1
7-151860860-T-A c.9802A>T p.K3268* Nonsense 43/59 - 1
7-151860865-C-T c.9797G>A p.R3266Q Missense 43/59 - 1
7-151860866-G-A c.9796C>T p.R3266W Missense 43/59 - 2
7-151860872-C-T c.9790G>A p.D3264N Missense 43/59 - 1
7-151860893-C-T c.9769G>A p.E3257K Missense 43/59 - 1
7-151860899-G-A c.9763C>T p.Q3255* Nonsense 43/59 - 1
7-151860908-G-A c.9754C>T p.R3252C Missense 43/59 - 1
7-151864236-C-G c.9745G>C p.E3249Q Missense 42/59 - 1
7-151864237-T-A c.9744A>T p.L3248= Synonymous 42/59 - 1
7-151864237-T-C c.9744A>G p.L3248= Synonymous 42/59 - 1
7-151864237-T-G c.9744A>C p.L3248= Synonymous 42/59 - 1
7-151864239-G-A c.9742C>T p.L3248= Synonymous 42/59 - 1
7-151864256-C-T c.9725G>A p.S3242N Missense 42/59 - 1
7-151864266-C-T c.9715G>A p.E3239K Missense 42/59 - 1
7-151864269-T-A c.9712A>T p.T3238S Missense 42/59 - 1
7-151864283-T-A c.9698A>T p.Q3233L Missense 42/59 - 1
7-151864284-G-A c.9697C>T p.Q3233* Nonsense 42/59 - 1
7-151864287-C-A c.9694G>T p.E3232* Nonsense 42/59 - 1
7-151864296-C-A c.9685G>T p.E3229* Nonsense 42/59 - 1
7-151864310-C-T c.9671G>A p.R3224H Missense 42/59 - 2
7-151864311-G-A c.9670C>T p.R3224C Missense 42/59 - 1
7-151864316-G-A c.9665C>T p.A3222V Missense 42/59 - 1
7-151864331-C-T c.9650G>A p.R3217H Missense 42/59 - 1
7-151864332-G-A c.9649C>T p.R3217C Missense 42/59 - 1
7-151864337-T-C c.9644A>G p.K3215R Missense 42/59 - 1
7-151864343-G-A c.9638C>T p.S3213L Missense 42/59 - 2
7-151864343-G-C c.9638C>G p.S3213* Nonsense 42/59 - 2
7-151864343-G-T c.9638C>A p.S3213* Nonsense 42/59 - 1
7-151864349-G-T c.9632C>A p.A3211D Missense 42/59 - 1
7-151864359-A-G c.9622T>C p.S3208P Missense 42/59 - 2
7-151864359-A-AT c.9621dup p.S3208Ifs*2 Frameshift 42/59 - 1
7-151864364-C-G c.9617G>C p.R3206T Missense 42/59 - 1
7-151864373-C-T c.9608G>A p.G3203D Missense 42/59 - 1
7-151864383-C-A c.9598G>T p.E3200* Nonsense 42/59 - 1
7-151864383-C-T c.9598G>A p.E3200K Missense 42/59 - 1
7-151864407-G-A c.9574C>T p.Q3192* Nonsense 42/59 - 1
7-151864410-G-A c.9571C>T p.L3191F Missense 42/59 - 1
7-151864451-C-T c.9530G>A p.R3177H Missense 42/59 - 1
7-151864452-G-A c.9529C>T p.R3177C Missense 42/59 - 1
7-151864455-G-A c.9526C>T p.Q3176* Nonsense 42/59 - 1
7-151864461-C-T c.9520G>A p.D3174N Missense 42/59 - 1
7-151866374-T-A c.9454-40A>T - IntronicSNV - 40/58 1
7-151867261-T-C c.9454-927A>G - IntronicSNV - 40/58 3
7-151868351-G-A c.9451C>T p.Q3151* Nonsense 40/59 - 1
7-151868360-C-A c.9442G>T p.A3148S Missense 40/59 - 1
7-151868363-G-C c.9439C>G p.Q3147E Missense 40/59 - 1
7-151868382-TTCACTGTTCTGTG-T c.9407_9419del p.T3136Kfs*16 Frameshift 40/59 - 1
7-151868394-T-A c.9408A>T p.T3136= Synonymous 40/59 - 1
7-151868394-T-C c.9408A>G p.T3136= Synonymous 40/59 - 1
7-151868394-T-G c.9408A>C p.T3136= Synonymous 40/59 - 1
7-151868399-C-A c.9403G>T p.G3135* Nonsense 40/59 - 1
7-151868414-C-A c.9388G>T p.G3130C Missense 40/59 - 1
7-151871217-T-C c.9373A>G p.R3125G Missense 39/59 - 1
7-151871231-G-A c.9359C>T p.P3120L Missense 39/59 - 1
7-151871240-C-T c.9350G>A p.G3117D Missense 39/59 - 1
7-151871261-A-G c.9329T>C p.V3110A Missense 39/59 - 1
7-151871280-G-A c.9310C>T p.L3104F Missense 39/59 - 1
7-151871282-G-A c.9308C>T p.A3103V Missense 39/59 - 1
7-151871299-C-G c.9291G>C p.M3097I Missense 39/59 - 1
7-151871307-G-A c.9283C>T p.P3095S Missense 39/59 - 1
7-151871316-T-G c.9274A>C p.I3092L Missense 39/59 - 1
7-151873284-G-A c.9254C>T p.P3085L Missense 38/59 - 1
7-151873289-G-C c.9249C>G p.F3083L Missense 38/59 - 1
7-151873293-G-A c.9245C>T p.P3082L Missense 38/59 - 3
7-151873293-G-T c.9245C>A p.P3082Q Missense 38/59 - 1
7-151873294-G-A c.9244C>T p.P3082S Missense 38/59 - 1
7-151873299-G-C c.9239C>G p.S3080* Nonsense 38/59 - 2
7-151873299-G-T c.9239C>A p.S3080* Nonsense 38/59 - 2
7-151873302-C-G c.9236G>C p.R3079P Missense 38/59 - 1
7-151873302-C-T c.9236G>A p.R3079Q Missense 38/59 - 1
7-151873303-G-A c.9235C>T p.R3079* Nonsense 38/59 - 3
7-151873308-C-T c.9230G>A p.R3077H Missense 38/59 - 1
7-151873309-G-A c.9229C>T p.R3077C Missense 38/59 - 1
7-151873325-C-A c.9213G>T p.Q3071H Missense 38/59 - 1
7-151873342-G-A c.9196C>T p.Q3066* Nonsense 38/59 - 1
7-151873345-C-T c.9193G>A p.E3065K Missense 38/59 - 1
7-151873356-T-C c.9182A>G p.Q3061R Missense 38/59 - 1
7-151873357-G-C c.9181C>G p.Q3061E Missense 38/59 - 1
7-151873361-C-A c.9177G>T p.L3059F Missense 38/59 - 1
7-151873361-C-G c.9177G>C p.L3059F Missense 38/59 - 1
7-151873387-G-C c.9151C>G p.Q3051E Missense 38/59 - 1
7-151873390-C-CA c.9147_9148insT p.E3050* Nonsense 38/59 - 1
7-151873390-C-T c.9148G>A p.E3050K Missense 38/59 - 1
7-151873387-GTTC-G c.9148_9150del p.E3050del InFrameDeletion 38/59 - 1
7-151873392-T-G c.9146A>C p.E3049A Missense 38/59 - 1
7-151873396-G-T c.9142C>A p.L3048I Missense 38/59 - 1
7-151873401-A-G c.9137T>C p.L3046P Missense 38/59 - 1
7-151873435-G-A c.9103C>T p.Q3035* Nonsense 38/59 - 1
7-151873462-A-G c.9076T>C p.S3026P Missense 38/59 - 1
7-151873489-T-A c.9049A>T p.T3017S Missense 38/59 - 1
7-151873502-T-A c.9036A>T p.Q3012H Missense 38/59 - 1
7-151873504-G-A c.9034C>T p.Q3012* Nonsense 38/59 - 1
7-151873521-G-A c.9017C>T p.T3006I Missense 38/59 - 1
7-151873549-G-A c.8989C>T p.Q2997* Nonsense 38/59 - 2
7-151873566-G-T c.8972C>A p.P2991Q Missense 38/59 - 1
7-151873581-C-A c.8957G>T p.G2986V Missense 38/59 - 1
7-151873581-C-T c.8957G>A p.G2986D Missense 38/59 - 1
7-151873585-G-C c.8953C>G p.Q2985E Missense 38/59 - 1
7-151873604-C-T c.8934G>A p.R2978= Synonymous 38/59 - 1
7-151873605-C-A c.8933G>T p.R2978M Missense 38/59 - 1
7-151873605-C-T c.8933G>A p.R2978K Missense 38/59 - 1
7-151873608-G-GA c.8929dup p.S2977Ffs*2 Frameshift 38/59 - 1
7-151873653-C-A c.8885G>T p.G2962V Missense 38/59 - 1
7-151873659-G-A c.8879C>T p.P2960L Missense 38/59 - 1
7-151873688-CAT-C c.8849_8850del p.H2950Rfs*17 Frameshift 38/59 - 4
7-151873707-G-A c.8831C>T p.P2944L Missense 38/59 - 1
7-151873716-G-T c.8822C>A p.P2941Q Missense 38/59 - 1
7-151873749-G-C c.8789C>G p.S2930* Nonsense 38/59 - 1
7-151873749-G-T c.8789C>A p.S2930* Nonsense 38/59 - 1
7-151873751-ATT-TTA c.8785_8787delinsTAA p.N2929* Nonsense 38/59 - 1
7-151873782-G-C c.8756C>G p.S2919* Nonsense 38/59 - 1
7-151873786-G-T c.8752C>A p.L2918I Missense 38/59 - 1
7-151873818-T-C c.8720A>G p.N2907S Missense 38/59 - 1
7-151873819-TTATTACA-T c.8712_8718del p.D2904Efs*6 Frameshift 38/59 - 1
7-151873838-TAG-AAA c.8698_8700delinsTTT p.L2900F Missense 38/59 - 1
7-151873842-T-G c.8696A>C p.Q2899P Missense 38/59 - 1
7-151873843-G-A c.8695C>T p.Q2899* Nonsense 38/59 - 1
7-151873853-C-T c.8685G>A p.Q2895= Synonymous 38/59 - 5
7-151873855-G-A c.8683C>T p.Q2895* Nonsense 38/59 - 1
7-151873863-T-C c.8675A>G p.N2892S Missense 38/59 - 1
7-151873896-C-T c.8642G>A p.R2881K Missense 38/59 - 1
7-151873902-T-C c.8636A>G p.E2879G Missense 38/59 - 1
7-151873907-T-A c.8631A>T p.L2877= Synonymous 38/59 - 1
7-151873907-T-C c.8631A>G p.L2877= Synonymous 38/59 - 1
7-151873907-T-G c.8631A>C p.L2877= Synonymous 38/59 - 1
7-151873909-G-A c.8629C>T p.L2877= Synonymous 38/59 - 1
7-151873917-T-A c.8621A>T p.D2874V Missense 38/59 - 1
7-151873927-G-A c.8611C>T p.H2871Y Missense 38/59 - 1
7-151873932-G-T c.8606C>A p.S2869Y Missense 38/59 - 1
7-151873937-C-A c.8601G>T p.K2867N Missense 38/59 - 1
7-151873942-C-A c.8596G>T p.E2866* Nonsense 38/59 - 1
7-151873959-G-C c.8579C>G p.S2860* Nonsense 38/59 - 1
7-151873959-G-T c.8579C>A p.S2860* Nonsense 38/59 - 1
7-151873969-AAGCCTGTGAGCAAGG-A c.8554_8568del p.P2852_A2856del InFrameDeletion 38/59 - 1
7-151873999-C-T c.8539G>A p.D2847N Missense 38/59 - 2
7-151874009-A-C c.8529T>G p.D2843E Missense 38/59 - 1
7-151874009-A-T c.8529T>A p.D2843E Missense 38/59 - 1
7-151874012-CA-C c.8526del p.N2842Kfs*21 Frameshift 38/59 - 1
7-151874014-T-TA c.8523_8524insT p.N2842* Nonsense 38/59 - 2
7-151874012-A-AT c.8525dup p.N2842Kfs*2 Frameshift 38/59 - 4
7-151874012-AT-A c.8525del p.N2842Mfs*21 Frameshift 38/59 - 1
7-151874020-C-A c.8518G>T p.E2840* Nonsense 38/59 - 1
7-151874058-CAG-C c.8479_8480del p.L2827Vfs*5 Frameshift 38/59 - 1
7-151874067-G-A c.8471C>T p.T2824M Missense 38/59 - 1
7-151874092-A-AT c.8445dup p.S2816Ifs*6 Frameshift 38/59 - 1
7-151874130-G-A c.8408C>T p.T2803I Missense 38/59 - 1
7-151874146-C-CA c.8391_8392insT p.E2798* Nonsense 38/59 - 1
7-151874148-T-C c.8390A>G p.K2797R Missense 38/59 - 1
7-151874149-T-TA c.8388_8389insT p.K2797* Nonsense 38/59 - 2
7-151874147-CTT-C c.8389_8390del p.K2797Gfs*11 Frameshift 38/59 - 1
7-151874147-C-CT c.8390dup p.E2798Gfs*11 Frameshift 38/59 - 2
7-151874147-CT-C c.8390del p.K2797Rfs*26 Frameshift 38/59 - 12
7-151874161-C-A c.8377G>T p.E2793* Nonsense 38/59 - 1
7-151874162-AACAGAT-A c.8370_8375del p.S2791_V2792del InFrameDeletion 38/59 - 1
7-151874188-TATC-T c.8347_8349del p.D2783del InFrameDeletion 38/59 - 1
7-151874197-T-C c.8341A>G p.I2781V Missense 38/59 - 1
7-151874205-T-A c.8333A>T p.D2778V Missense 38/59 - 2
7-151874212-C-A c.8326G>T p.E2776* Nonsense 38/59 - 1
7-151874212-C-T c.8326G>A p.E2776K Missense 38/59 - 1
7-151874215-C-A c.8323G>T p.E2775* Nonsense 38/59 - 1
7-151874215-C-T c.8323G>A p.E2775K Missense 38/59 - 1
7-151874226-C-CT c.8311dup p.S2771Kfs*4 Frameshift 38/59 - 1
7-151874275-C-G c.8263G>C p.D2755H Missense 38/59 - 1
7-151874277-AACTCTCCTGACCTT-A c.8247_8260del p.L2749Ffs*2 Frameshift 38/59 - 1
7-151874286-G-C c.8252C>G p.S2751* Nonsense 38/59 - 1
7-151874288-C-A c.8250G>T p.R2750S Missense 38/59 - 1
7-151874290-T-C c.8248A>G p.R2750G Missense 38/59 - 1
7-151874299-C-T c.8239G>A p.D2747N Missense 38/59 - 1
7-151874310-G-T c.8228C>A p.P2743H Missense 38/59 - 1
7-151874328-T-G c.8210A>C p.N2737T Missense 38/59 - 1
7-151874327-AT-A c.8210del p.N2737Ifs*13 Frameshift 38/59 - 1
7-151874362-C-T c.8176G>A p.D2726N Missense 38/59 - 1
7-151874364-T-C c.8174A>G p.E2725G Missense 38/59 - 1
7-151874365-C-G c.8173G>C p.E2725Q Missense 38/59 - 1
7-151874371-CTAAATT-C c.8161_8166del p.N2721_L2722del InFrameDeletion 38/59 - 1
7-151874392-C-T c.8146G>A p.D2716N Missense 38/59 - 1
7-151874395-C-A c.8143G>T p.E2715* Nonsense 38/59 - 1
7-151874398-C-A c.8140G>T p.D2714Y Missense 38/59 - 1
7-151874407-CTT-C c.8129_8130del p.K2710Rfs*4 Frameshift 38/59 - 1
7-151874410-T-G c.8128A>C p.K2710Q Missense 38/59 - 1
7-151874425-C-A c.8113G>T p.E2705* Nonsense 38/59 - 1
7-151874434-T-A c.8104A>T p.K2702* Nonsense 38/59 - 2
7-151874452-ACAGAAGGGTC-A c.8077_8086del p.D2693* Frameshift 38/59 - 1
7-151874461-C-CA c.8076dup p.D2693* Nonsense 38/59 - 1
7-151874463-T-G c.8075A>C p.D2692A Missense 38/59 - 2
7-151874468-A-G c.8070T>C p.D2690= Synonymous 38/59 - 1
7-151874470-C-T c.8068G>A p.D2690N Missense 38/59 - 1
7-151874474-T-A c.8064A>T p.K2688N Missense 38/59 - 1
7-151874487-C-A c.8051G>T p.G2684V Missense 38/59 - 1
7-151874491-C-A c.8047G>T p.D2683Y Missense 38/59 - 1
7-151874498-C-T c.8040G>A p.Q2680= Synonymous 38/59 - 2
7-151874519-ATCAGACGTTGTT-A c.8007_8018del p.E2669_S2672del InFrameDeletion 38/59 - 1
7-151874525-CGTT-C c.8010_8012del p.T2671del InFrameDeletion 38/59 - 1
7-151874529-G-T c.8009C>A p.T2670K Missense 38/59 - 1
7-151874548-T-C c.7990A>G p.T2664A Missense 38/59 - 1
7-151874550-G-C c.7988C>G p.S2663* Nonsense 38/59 - 1
7-151874550-G-T c.7988C>A p.S2663* Nonsense 38/59 - 1
7-151874552-C-A c.7986G>T p.L2662F Missense 38/59 - 1
7-151874563-C-A c.7975G>T p.E2659* Nonsense 38/59 - 1
7-151874581-G-C c.7957C>G p.L2653V Missense 38/59 - 2
7-151874598-C-G c.7940G>C p.R2647T Missense 38/59 - 1
7-151874616-G-C c.7922C>G p.S2641* Nonsense 38/59 - 1
7-151874616-G-T c.7922C>A p.S2641* Nonsense 38/59 - 1
7-151874629-G-T c.7909C>A p.H2637N Missense 38/59 - 1
7-151874635-G-A c.7903C>T p.Q2635* Nonsense 38/59 - 2
7-151874644-G-A c.7894C>T p.Q2632* Nonsense 38/59 - 1
7-151874647-A-G c.7891T>C p.S2631P Missense 38/59 - 1
7-151874656-C-T c.7882G>A p.V2628M Missense 38/59 - 1
7-151874662-C-A c.7876G>T p.E2626* Nonsense 38/59 - 1
7-151874670-G-T c.7868C>A p.P2623Q Missense 38/59 - 1
7-151874680-G-A c.7858C>T p.P2620S Missense 38/59 - 1
7-151874698-C-G c.7840G>C p.G2614R Missense 38/59 - 1
7-151874709-C-T c.7829G>A p.R2610Q Missense 38/59 - 3
7-151874710-G-A c.7828C>T p.R2610* Nonsense 38/59 - 2
7-151874712-C-T c.7826G>A p.R2609Q Missense 38/59 - 2
7-151874713-G-A c.7825C>T p.R2609* Nonsense 38/59 - 4
7-151874735-GC-G c.7802del p.G2601Afs*46 Frameshift 38/59 - 1
7-151874739-G-A c.7799C>T p.P2600L Missense 38/59 - 2
7-151874751-C-T c.7787G>A p.R2596Q Missense 38/59 - 2
7-151874752-G-A c.7786C>T p.R2596W Missense 38/59 - 1
7-151874751-CG-C c.7786del p.R2596Gfs*51 Frameshift 38/59 - 1
7-151874760-A-G c.7778T>C p.F2593S Missense 38/59 - 1
7-151874765-TCC-GCT c.7771_7773delinsAGC p.G2591S Missense 38/59 - 1
7-151874797-AC-A c.7741del p.V2581Lfs*2 Frameshift 38/59 - 1
7-151874798-G-C c.7740C>G p.S2580R Missense 38/59 - 1
7-151874798-G-T c.7740C>A p.S2580R Missense 38/59 - 1
7-151874800-T-G c.7738A>C p.S2580R Missense 38/59 - 1
7-151874827-G-A c.7711C>T p.R2571W Missense 38/59 - 2
7-151874836-C-G c.7702G>C p.G2568R Missense 38/59 - 1
7-151874836-C-T c.7702G>A p.G2568R Missense 38/59 - 2
7-151874893-G-A c.7645C>T p.Q2549* Nonsense 38/59 - 3
7-151874896-CTGGCAAGCTCTG-C c.7630_7641del p.Q2544_P2547del InFrameDeletion 38/59 - 1
7-151874923-G-A c.7615C>T p.Q2539* Nonsense 38/59 - 3
7-151874945-C-A c.7593G>T p.M2531I Missense 38/59 - 1
7-151874952-G-C c.7586C>G p.S2529* Nonsense 38/59 - 2
7-151874952-G-T c.7586C>A p.S2529* Nonsense 38/59 - 1
7-151874956-T-G c.7582A>C p.N2528H Missense 38/59 - 1
7-151874988-G-C c.7550C>G p.S2517* Nonsense 38/59 - 2
7-151874989-ATCT-A c.7546_7548del p.R2516del InFrameDeletion 38/59 - 1
7-151875018-C-T c.7520G>A p.G2507E Missense 38/59 - 1
7-151875033-G-A c.7505C>T p.P2502L Missense 38/59 - 1
7-151875032-AG-A c.7505del p.P2502Lfs*13 Frameshift 38/59 - 1
7-151875048-C-T c.7490G>A p.R2497H Missense 38/59 - 1
7-151875049-CGCTCTTGA-C c.7482_7489del p.S2494Rfs*28 Frameshift 38/59 - 1
7-151875049-G-A c.7489C>T p.R2497C Missense 38/59 - 1
7-151875052-C-A c.7486G>T p.E2496* Nonsense 38/59 - 1
7-151875062-C-A c.7476G>T p.M2492I Missense 38/59 - 1
7-151875062-C-G c.7476G>C p.M2492I Missense 38/59 - 1
7-151875062-C-T c.7476G>A p.M2492I Missense 38/59 - 1
7-151875082-C-T c.7456G>A p.G2486R Missense 38/59 - 1
7-151875090-C-A c.7448G>T p.G2483V Missense 38/59 - 2
7-151875091-C-A c.7447G>T p.G2483* Nonsense 38/59 - 2
7-151875095-AT-A c.7443del p.R2481Sfs*34 Frameshift 38/59 - 1
7-151875095-T-A c.7443A>T p.R2481S Missense 38/59 - 2
7-151875100-T-A c.7443-5A>T - IntronicSNV - 37/58 1
7-151876919-C-CT c.7441dup p.R2481Kfs*8 SpliceDonorInsertion 37/59 - 1
7-151876920-T-TC c.7440_7441insG p.R2481Efs*8 SpliceDonorInsertion 37/59 - 1
7-151876920-T-TG c.7440_7441insC p.R2481Qfs*8 SpliceDonorInsertion 37/59 - 1
7-151876920-T-TA c.7440dup p.R2481* SpliceDonorInsertion 37/59 - 1
7-151876929-G-C c.7432C>G p.H2478D Missense 37/59 - 1
7-151876940-C-A c.7421G>T p.G2474V Missense 37/59 - 1
7-151876941-C-T c.7420G>A p.G2474R Missense 37/59 - 1
7-151876974-G-A c.7387C>T p.R2463C Missense 37/59 - 2
7-151876975-C-A c.7386G>T p.Q2462H Missense 37/59 - 1
7-151876975-C-G c.7386G>C p.Q2462H Missense 37/59 - 1
7-151876977-G-A c.7384C>T p.Q2462* Nonsense 37/59 - 1
7-151877000-C-T c.7361G>A p.R2454K Missense 37/59 - 1
7-151877000-TC-T c.7361del p.R2454Nfs*22 Frameshift 37/59 - 1
7-151877010-AAAG-A c.7349_7351del p.P2450del InFrameDeletion 37/59 - 1
7-151877019-C-A c.7342G>T p.A2448S Missense 37/59 - 1
7-151877027-G-T c.7334C>A p.S2445Y Missense 37/59 - 1
7-151877030-C-T c.7331G>A p.R2444K Missense 37/59 - 1
7-151877042-G-A c.7319C>T p.P2440L Missense 37/59 - 1
7-151877043-G-A c.7318C>T p.P2440S Missense 37/59 - 1
7-151877043-G-T c.7318C>A p.P2440T Missense 37/59 - 1
7-151877048-G-A c.7313C>T p.P2438L Missense 37/59 - 1
7-151877074-G-T c.7287C>A p.N2429K Missense 37/59 - 1
7-151877077-AACATT-GCATAA c.7279_7284delinsTTATGC p.N2427_V2428delinsLC MultiAAMissense 37/59 - 1
7-151877082-T-TAGGC c.7278_7279insGCCT p.N2427Afs*2 Frameshift 37/59 - 1
7-151877092-C-G c.7269G>C p.W2423C Missense 37/59 - 1
7-151877127-G-T c.7234C>A p.P2412T Missense 37/59 - 1
7-151877132-T-C c.7229A>G p.D2410G Missense 37/59 - 1
7-151877147-T-C c.7214A>G p.E2405G Missense 37/59 - 1
7-151877148-C-G c.7213G>C p.E2405Q Missense 37/59 - 1
7-151877153-C-A c.7208G>T p.R2403L Missense 37/59 - 1
7-151877153-C-T c.7208G>A p.R2403Q Missense 37/59 - 1
7-151877154-G-A c.7207C>T p.R2403* Nonsense 37/59 - 2
7-151877162-ATCT-A c.7196_7198del p.K2399del InFrameDeletion 37/59 - 1
7-151877186-GAGAAT-G c.7171_7175del p.I2391Pfs*37 Frameshift 37/59 - 1
7-151877187-G-A c.7174C>T p.L2392F Missense 37/59 - 1
7-151877190-T-G c.7171A>C p.I2391L Missense 37/59 - 1
7-151877188-AATG-A c.7170_7172del p.I2391del InFrameDeletion 37/59 - 1
7-151877198-C-T c.7163G>A p.R2388H Missense 37/59 - 1
7-151877201-A-C c.7160T>G p.L2387* Nonsense 37/59 - 1
7-151877201-A-T c.7160T>A p.L2387* Nonsense 37/59 - 1
7-151877208-G-A c.7153C>T p.Q2385* Nonsense 37/59 - 2
7-151877210-C-T c.7151G>A p.R2384Q Missense 37/59 - 1
7-151877211-G-A c.7150C>T p.R2384W Missense 37/59 - 1
7-151877810-C-G c.7135G>C p.E2379Q Missense 36/59 - 1
7-151877812-G-C c.7133C>G p.T2378R Missense 36/59 - 1
7-151877816-C-G c.7129G>C p.D2377H Missense 36/59 - 1
7-151877820-T-A c.7125A>T p.Q2375H Missense 36/59 - 1
7-151877827-ATATTTACAGTATTCTGTGTATCAGT-A c.7093_7117del p.T2365Wfs*9 Frameshift 36/59 - 1
7-151877834-C-A c.7111G>T p.V2371L Missense 36/59 - 1
7-151877834-C-G c.7111G>C p.V2371L Missense 36/59 - 1
7-151877860-G-T c.7085C>A p.S2362* Nonsense 36/59 - 1
7-151877864-T-G c.7081A>C p.T2361P Missense 36/59 - 1
7-151877882-GT-G c.7062del p.Q2354Hfs*11 Frameshift 36/59 - 1
7-151877892-AC-A c.7052del p.G2351Vfs*14 Frameshift 36/59 - 1
7-151877898-G-C c.7047C>G p.F2349L Missense 36/59 - 1
7-151877898-G-T c.7047C>A p.F2349L Missense 36/59 - 1
7-151877900-A-G c.7045T>C p.F2349L Missense 36/59 - 1
7-151877903-G-A c.7042C>T p.Q2348* Nonsense 36/59 - 1
7-151877923-GGA-G c.7020_7021del p.P2341Nfs*25 Frameshift 36/59 - 1
7-151877932-G-C c.7013C>G p.S2338* Nonsense 36/59 - 1
7-151877932-G-T c.7013C>A p.S2338* Nonsense 36/59 - 1
7-151877951-C-A c.6994G>T p.G2332W Missense 36/59 - 1
7-151877968-G-T c.6977C>A p.P2326Q Missense 36/59 - 1
7-151877971-T-A c.6974A>T p.Q2325L Missense 36/59 - 1
7-151877980-A-G c.6965T>C p.V2322A Missense 36/59 - 2
7-151878005-C-G c.6940G>C p.G2314R Missense 36/59 - 1
7-151878005-C-T c.6940G>A p.G2314R Missense 36/59 - 1
7-151878010-G-C c.6935C>G p.S2312C Missense 36/59 - 1
7-151878026-T-C c.6919A>G p.R2307G Missense 36/59 - 1
7-151878033-C-T c.6912G>A p.M2304I Missense 36/59 - 1
7-151878056-C-T c.6889G>A p.D2297N Missense 36/59 - 1
7-151878057-CACG-C c.6886_6888del p.R2296del InFrameDeletion 36/59 - 1
7-151878058-C-T c.6887G>A p.R2296H Missense 36/59 - 2
7-151878059-G-T c.6886C>A p.R2296S Missense 36/59 - 1
7-151878085-A-C c.6860T>G p.F2287C Missense 36/59 - 1
7-151878104-G-C c.6841C>G p.P2281A Missense 36/59 - 1
7-151878109-G-A c.6836C>T p.P2279L Missense 36/59 - 2
7-151878153-C-A c.6792G>T p.P2264= Synonymous 36/59 - 1
7-151878153-C-G c.6792G>C p.P2264= Synonymous 36/59 - 1
7-151878153-C-T c.6792G>A p.P2264= Synonymous 36/59 - 1
7-151878196-A-G c.6749T>C p.F2250S Missense 36/59 - 1
7-151878212-G-C c.6733C>G p.P2245A Missense 36/59 - 1
7-151878241-C-T c.6704G>A p.R2235K Missense 36/59 - 1
7-151878254-C-G c.6691G>C p.E2231Q Missense 36/59 - 1
7-151878260-AT-A c.6685del p.I2229Ffs*10 Frameshift 36/59 - 1
7-151878265-G-A c.6680C>T p.P2227L Missense 36/59 - 1
7-151878287-G-A c.6658C>T p.Q2220* Nonsense 36/59 - 1
7-151878291-G-C c.6654C>G p.Y2218* Nonsense 36/59 - 1
7-151878292-T-G c.6653A>C p.Y2218S Missense 36/59 - 1
7-151878298-A-T c.6647T>A p.V2216D Missense 36/59 - 1
7-151878308-C-A c.6637G>T p.G2213* Nonsense 36/59 - 1
7-151878308-C-CG c.6636_6637insC p.G2213Rfs*23 Frameshift 36/59 - 1
7-151878313-C-G c.6632G>C p.R2211T Missense 36/59 - 1
7-151878343-T-A c.6602A>T p.D2201V Missense 36/59 - 1
7-151878344-C-G c.6601G>C p.D2201H Missense 36/59 - 1
7-151878352-C-A c.6593G>T p.R2198M Missense 36/59 - 1
7-151878355-T-C c.6590A>G p.Q2197R Missense 36/59 - 1
7-151878354-CTGATTTG-C c.6584_6590del p.T2195Rfs*42 Frameshift 36/59 - 1
7-151878361-G-C c.6584C>G p.T2195R Missense 36/59 - 1
7-151878362-T-A c.6583A>T p.T2195S Missense 36/59 - 1
7-151878364-A-G c.6581T>C p.V2194A Missense 36/59 - 1
7-151878367-G-C c.6578C>G p.P2193R Missense 36/59 - 3
7-151878367-GG-CC c.6577_6578inv p.P2193G Missense 36/59 - 1
7-151878368-G-C c.6577C>G p.P2193A Missense 36/59 - 2
7-151878371-T-C c.6574A>G p.T2192A Missense 36/59 - 1
7-151878383-C-A c.6562G>T p.D2188Y Missense 36/59 - 1
7-151878394-G-C c.6551C>G p.S2184C Missense 36/59 - 1
7-151878431-C-T c.6514G>A p.D2172N Missense 36/59 - 1
7-151878445-C-T c.6500G>A p.R2167Q Missense 36/59 - 3
7-151878446-G-A c.6499C>T p.R2167W Missense 36/59 - 1
7-151878454-C-T c.6491G>A p.G2164E Missense 36/59 - 1
7-151878453-TC-T c.6491del p.G2164Efs*31 Frameshift 36/59 - 1
7-151878464-G-A c.6481C>T p.Q2161* Nonsense 36/59 - 1
7-151878470-A-G c.6475T>C p.Y2159H Missense 36/59 - 2
7-151878472-G-T c.6473C>A p.P2158H Missense 36/59 - 1
7-151878476-C-G c.6469G>C p.D2157H Missense 36/59 - 1
7-151878506-G-A c.6439C>T p.Q2147* Nonsense 36/59 - 1
7-151878506-G-GGCTATAGCT c.6438_6439insAGCTATAGC p.S2144_S2146dup InFrameInsertion 36/59 - 1
7-151878521-C-A c.6424G>T p.V2142L Missense 36/59 - 1
7-151878521-C-G c.6424G>C p.V2142L Missense 36/59 - 1
7-151878530-G-A c.6415C>T p.R2139* Nonsense 36/59 - 1
7-151878538-C-T c.6407G>A p.G2136E Missense 36/59 - 1
7-151878562-T-G c.6383A>C p.Q2128P Missense 36/59 - 2
7-151878583-G-A c.6362C>T p.T2121I Missense 36/59 - 1
7-151878590-G-A c.6355C>T p.P2119S Missense 36/59 - 1
7-151878591-C-A c.6354G>T p.Q2118H Missense 36/59 - 1
7-151878593-G-A c.6352C>T p.Q2118* Nonsense 36/59 - 1
7-151878604-C-T c.6341G>A p.R2114K Missense 36/59 - 1
7-151878610-G-A c.6335C>T p.P2112L Missense 36/59 - 1
7-151878619-A-G c.6326T>C p.F2109S Missense 36/59 - 1
7-151878626-C-A c.6319G>T p.E2107* Nonsense 36/59 - 2
7-151878637-G-C c.6308C>G p.P2103R Missense 36/59 - 1
7-151878645-G-A c.6300C>T p.T2100= Synonymous 36/59 - 1
7-151878645-G-C c.6300C>G p.T2100= Synonymous 36/59 - 1
7-151878645-G-T c.6300C>A p.T2100= Synonymous 36/59 - 1
7-151878650-G-T c.6295C>A p.L2099I Missense 36/59 - 1
7-151878652-G-T c.6293C>A p.P2098H Missense 36/59 - 1
7-151878659-G-A c.6286C>T p.Q2096* Nonsense 36/59 - 1
7-151878661-CT-GG c.6283_6284delinsCC p.S2095P Missense 36/59 - 1
7-151878663-A-C c.6282T>G p.Y2094* Nonsense 36/59 - 1
7-151878663-A-T c.6282T>A p.Y2094* Nonsense 36/59 - 1
7-151878671-C-A c.6274G>T p.D2092Y Missense 36/59 - 1
7-151878671-C-T c.6274G>A p.D2092N Missense 36/59 - 1
7-151878676-G-C c.6269C>G p.S2090* Nonsense 36/59 - 1
7-151878676-G-T c.6269C>A p.S2090* Nonsense 36/59 - 1
7-151878680-G-A c.6265C>T p.Q2089* Nonsense 36/59 - 1
7-151878697-T-C c.6248A>G p.D2083G Missense 36/59 - 1
7-151878713-T-A c.6232A>T p.T2078S Missense 36/59 - 1
7-151878719-C-G c.6226G>C p.A2076P Missense 36/59 - 1
7-151878724-C-A c.6221G>T p.R2074M Missense 36/59 - 1
7-151878740-C-A c.6205G>T p.V2069F Missense 36/59 - 1
7-151878749-G-A c.6196C>T p.R2066* Nonsense 36/59 - 2
7-151878754-G-C c.6191C>G p.S2064* Nonsense 36/59 - 1
7-151878758-C-T c.6187G>A p.A2063T Missense 36/59 - 1
7-151878769-G-C c.6176C>G p.S2059* Nonsense 36/59 - 1
7-151878769-G-T c.6176C>A p.S2059* Nonsense 36/59 - 1
7-151878773-C-G c.6172G>C p.G2058R Missense 36/59 - 1
7-151878773-C-T c.6172G>A p.G2058R Missense 36/59 - 1
7-151878784-T-A c.6161A>T p.Q2054L Missense 36/59 - 1
7-151878785-G-A c.6160C>T p.Q2054* Nonsense 36/59 - 2
7-151878785-G-C c.6160C>G p.Q2054E Missense 36/59 - 1
7-151878787-G-C c.6158C>G p.S2053C Missense 36/59 - 1
7-151878797-G-A c.6148C>T p.P2050S Missense 36/59 - 1
7-151878799-G-A c.6146C>T p.P2049L Missense 36/59 - 1
7-151878813-CT-C c.6131del p.K2044Rfs*34 Frameshift 36/59 - 1
7-151878839-G-C c.6106C>G p.L2036V Missense 36/59 - 1
7-151878853-A-G c.6092T>C p.L2031S Missense 36/59 - 1
7-151878859-G-A c.6086C>T p.P2029L Missense 36/59 - 1
7-151878862-C-A c.6083G>T p.R2028L Missense 36/59 - 1
7-151878862-C-T c.6083G>A p.R2028Q Missense 36/59 - 1
7-151878863-G-A c.6082C>T p.R2028* Nonsense 36/59 - 3
7-151878871-G-C c.6074C>G p.S2025* Nonsense 36/59 - 1
7-151878872-A-T c.6073T>A p.S2025T Missense 36/59 - 2
7-151878875-C-G c.6070G>C p.D2024H Missense 36/59 - 1
7-151878876-A-G c.6069T>C p.P2023= Synonymous 36/59 - 1
7-151878879-T-C c.6066A>G p.I2022M Missense 36/59 - 1
7-151878884-T-C c.6061A>G p.R2021G Missense 36/59 - 1
7-151878890-T-C c.6055A>G p.R2019G Missense 36/59 - 1
7-151878893-GA-G c.6051del p.Q2018Kfs*14 Frameshift 36/59 - 1
7-151878896-A-G c.6049T>C p.F2017L Missense 36/59 - 1
7-151878898-A-G c.6047T>C p.V2016A Missense 36/59 - 1
7-151878907-CT-GC c.6037_6038delinsGC p.R2013A Missense 36/59 - 1
7-151878918-T-A c.6027A>T p.K2009N Missense 36/59 - 1
7-151878926-A-G c.6019T>C p.F2007L Missense 36/59 - 1
7-151878929-G-A c.6016C>T p.H2006Y Missense 36/59 - 1
7-151878933-A-G c.6012T>C p.S2004= Synonymous 36/59 - 1
7-151878940-C-T c.6005G>A p.G2002E Missense 36/59 - 1
7-151878957-T-C c.5988A>G p.K1996= Synonymous 36/59 - 1
7-151878959-T-C c.5986A>G p.K1996E Missense 36/59 - 1
7-151878969-T-A c.5976A>T p.E1992D Missense 36/59 - 1
7-151878979-A-G c.5966T>C p.V1989A Missense 36/59 - 1
7-151878988-C-A c.5957G>T p.R1986L Missense 36/59 - 1
7-151878994-AG-A c.5950del p.L1984Yfs*6 Frameshift 36/59 - 1
7-151879006-TTTGGG-T c.5935_5939del p.P1979Ifs*25 Frameshift 36/59 - 1
7-151879008-G-A c.5937C>T p.P1979= Synonymous 36/59 - 1
7-151879008-G-C c.5937C>G p.P1979= Synonymous 36/59 - 1
7-151879008-G-T c.5937C>A p.P1979= Synonymous 36/59 - 1
7-151879023-C-CA c.5921dup p.M1974Ifs*32 Frameshift 36/59 - 1
7-151879026-C-A c.5919G>T p.V1973= Synonymous 36/59 - 1
7-151879039-G-A c.5906C>T p.T1969I Missense 36/59 - 1
7-151879049-G-T c.5896C>A p.P1966T Missense 36/59 - 1
7-151879081-G-A c.5864C>T p.S1955F Missense 36/59 - 1
7-151879084-G-C c.5861C>G p.S1954C Missense 36/59 - 3
7-151879087-C-T c.5858G>A p.C1953Y Missense 36/59 - 1
7-151879105-GA-TT c.5839_5840delinsAA p.S1947N Missense 36/59 - 1
7-151879117-G-A c.5828C>T p.A1943V Missense 36/59 - 1
7-151879131-C-T c.5814G>A p.M1938I Missense 36/59 - 1
7-151879162-G-T c.5783C>A p.P1928H Missense 36/59 - 1
7-151879166-TAC-T c.5777_5778del p.C1926Yfs*8 Frameshift 36/59 - 1
7-151879181-G-C c.5764C>G p.P1922A Missense 36/59 - 1
7-151879201-G-GA c.5743dup p.S1915Ffs*20 Frameshift 36/59 - 1
7-151879228-C-T c.5717G>A p.R1906Q Missense 36/59 - 2
7-151879229-G-A c.5716C>T p.R1906* Nonsense 36/59 - 3
7-151879251-A-G c.5694T>C p.Y1898= Synonymous 36/59 - 1
7-151879254-ATGGATCCATT-A c.5682_5691del p.D1896Qfs*40 Frameshift 36/59 - 1
7-151879262-T-C c.5683A>G p.M1895V Missense 36/59 - 1
7-151879276-C-G c.5669G>C p.R1890P Missense 36/59 - 1
7-151879275-T-A c.5670A>T p.R1890= Synonymous 36/59 - 1
7-151879275-T-C c.5670A>G p.R1890= Synonymous 36/59 - 1
7-151879275-T-G c.5670A>C p.R1890= Synonymous 36/59 - 1
7-151879277-G-A c.5668C>T p.R1890* Nonsense 36/59 - 1
7-151879277-G-C c.5668C>G p.R1890G Missense 36/59 - 1
7-151879277-G-T c.5668C>A p.R1890= Synonymous 36/59 - 1
7-151879280-A-C c.5665T>G p.S1889A Missense 36/59 - 1
7-151879297-G-A c.5648C>T p.S1883L Missense 36/59 - 1
7-151879309-G-A c.5636C>T p.P1879L Missense 36/59 - 1
7-151879309-G-T c.5636C>A p.P1879Q Missense 36/59 - 1
7-151879330-T-C c.5615A>G p.Q1872R Missense 36/59 - 1
7-151879337-G-A c.5608C>T p.Q1870* Nonsense 36/59 - 1
7-151879358-G-C c.5587C>G p.P1863A Missense 36/59 - 1
7-151879376-G-A c.5569C>T p.P1857S Missense 36/59 - 1
7-151879378-G-T c.5567C>A p.P1856H Missense 36/59 - 1
7-151879377-AG-A c.5567del p.P1856Lfs*83 Frameshift 36/59 - 1
7-151879400-T-A c.5545A>T p.K1849* Nonsense 36/59 - 1
7-151879409-C-T c.5536G>A p.V1846M Missense 36/59 - 1
7-151879417-G-C c.5528C>G p.S1843* Nonsense 36/59 - 1
7-151879428-C-A c.5517G>T p.T1839= Synonymous 36/59 - 1
7-151879428-C-G c.5517G>C p.T1839= Synonymous 36/59 - 1
7-151879428-C-T c.5517G>A p.T1839= Synonymous 36/59 - 1
7-151879432-G-C c.5513C>G p.P1838R Missense 36/59 - 1
7-151879448-G-C c.5497C>G p.Q1833E Missense 36/59 - 1
7-151879460-AGTTCT-A c.5481_5485del p.K1827Nfs*17 Frameshift 36/59 - 1
7-151879466-T-A c.5479A>T p.K1827* Nonsense 36/59 - 1
7-151879479-T-A c.5466A>T p.A1822= Synonymous 36/59 - 1
7-151879479-T-C c.5466A>G p.A1822= Synonymous 36/59 - 1
7-151879479-T-G c.5466A>C p.A1822= Synonymous 36/59 - 1
7-151879483-G-A c.5462C>T p.P1821L Missense 36/59 - 1
7-151879483-G-T c.5462C>A p.P1821H Missense 36/59 - 1
7-151879486-G-C c.5459C>G p.S1820C Missense 36/59 - 1
7-151879489-A-G c.5456T>C p.M1819T Missense 36/59 - 1
7-151879495-C-G c.5450G>C p.G1817A Missense 36/59 - 1
7-151879529-T-A c.5416A>T p.I1806L Missense 36/59 - 1
7-151879537-C-T c.5408G>A p.S1803N Missense 36/59 - 1
7-151879544-T-A c.5401A>T p.T1801S Missense 36/59 - 1
7-151879568-G-A c.5377C>T p.L1793F Missense 36/59 - 1
7-151879574-G-A c.5371C>T p.Q1791* Nonsense 36/59 - 3
7-151879585-T-TA c.5359_5360insT p.Q1787Lfs*18 Frameshift 36/59 - 1
7-151879605-C-A c.5340G>T p.Q1780H Missense 36/59 - 1
7-151879605-C-G c.5340G>C p.Q1780H Missense 36/59 - 1
7-151879610-C-A c.5335G>T p.E1779* Nonsense 36/59 - 2
7-151879610-C-T c.5335G>A p.E1779K Missense 36/59 - 1
7-151879620-C-T c.5325G>A p.Q1775= Synonymous 36/59 - 1
7-151879625-C-T c.5320G>A p.E1774K Missense 36/59 - 1
7-151879627-A-AG c.5317dup p.L1773Pfs*2 Frameshift 36/59 - 1
7-151879634-G-A c.5311C>T p.Q1771* Nonsense 36/59 - 1
7-151879643-C-A c.5302G>T p.E1768* Nonsense 36/59 - 1
7-151879645-A-G c.5300T>C p.I1767T Missense 36/59 - 1
7-151879653-T-A c.5292A>T p.Q1764H Missense 36/59 - 1
7-151879653-T-G c.5292A>C p.Q1764H Missense 36/59 - 1
7-151879658-G-A c.5287C>T p.Q1763* Nonsense 36/59 - 1
7-151879668-C-G c.5277G>C p.Q1759H Missense 36/59 - 1
7-151879970-G-A c.5265+89C>T - IntronicSNV - 35/58 1
7-151880059-C-T c.5265G>A p.Q1755= Synonymous 35/59 - 1
7-151880062-TCT-CCA c.5260_5262delinsTGG p.R1754W Missense 35/59 - 1
7-151880076-C-A c.5248G>T p.E1750* Nonsense 35/59 - 1
7-151880082-C-T c.5242G>A p.E1748K Missense 35/59 - 1
7-151880088-C-A c.5236G>T p.E1746* Nonsense 35/59 - 1
7-151880091-A-AT c.5232dup p.S1745Ifs*4 Frameshift 35/59 - 1
7-151880107-AG-A c.5216del p.P1739Lfs*2 Frameshift 35/59 - 3
7-151880125-C-A c.5199G>T p.S1733= Synonymous 35/59 - 1
7-151880125-C-G c.5199G>C p.S1733= Synonymous 35/59 - 1
7-151880125-C-T c.5199G>A p.S1733= Synonymous 35/59 - 1
7-151880141-C-T c.5183G>A p.S1728N Missense 35/59 - 1
7-151880148-C-A c.5176G>T p.D1726Y Missense 35/59 - 1
7-151880157-C-T c.5167G>A p.D1723N Missense 35/59 - 1
7-151880174-T-C c.5150A>G p.K1717R Missense 35/59 - 3
7-151880177-A-G c.5147T>C p.M1716T Missense 35/59 - 1
7-151880184-C-T c.5140G>A p.D1714N Missense 35/59 - 1
7-151880187-T-TA c.5136_5137insT p.N1713* Nonsense 35/59 - 1
7-151880191-C-A c.5133G>T p.M1711I Missense 35/59 - 1
7-151880191-C-G c.5133G>C p.M1711I Missense 35/59 - 1
7-151880191-C-T c.5133G>A p.M1711I Missense 35/59 - 1
7-151880202-T-C c.5122A>G p.K1708E Missense 35/59 - 1
7-151880213-A-C c.5111T>G p.L1704* Nonsense 35/59 - 1
7-151880213-A-T c.5111T>A p.L1704* Nonsense 35/59 - 1
7-151880217-C-A c.5107G>T p.A1703S Missense 35/59 - 1
7-151880219-GCT-G c.5103_5104del p.R1701Sfs*6 Frameshift 35/59 - 1
7-151880228-T-C c.5096A>G p.D1699G Missense 35/59 - 2
7-151880235-C-T c.5089G>A p.A1697T Missense 35/59 - 1
7-151882651-G-C c.5074C>G p.P1692A Missense 34/59 - 1
7-151882654-C-T c.5071G>A p.A1691T Missense 34/59 - 2
7-151882655-T-C c.5070A>G p.R1690= Synonymous 34/59 - 2
7-151882657-T-G c.5068A>C p.R1690= Synonymous 34/59 - 4
7-151882656-C-G c.5069G>C p.R1690T Missense 34/59 - 1
7-151882660-C-G c.5065G>C p.E1689Q Missense 34/59 - 1
7-151882660-C-T c.5065G>A p.E1689K Missense 34/59 - 1
7-151882660-TC-T c.5065del p.E1689Kfs*28 Frameshift 34/59 - 2
7-151882671-G-C c.5054C>G p.A1685G Missense 34/59 - 1
7-151882672-C-A c.5053G>T p.A1685S Missense 34/59 - 12
7-151882672-CT-C c.5052del p.A1685Qfs*32 Frameshift 34/59 - 2
7-151882694-T-C c.5031A>G p.Q1677= Synonymous 34/59 - 1
7-151882696-G-A c.5029C>T p.Q1677* Nonsense 34/59 - 1
7-151882713-C-A c.5012G>T p.W1671L Missense 34/59 - 1
7-151882714-A-G c.5011T>C p.W1671R Missense 34/59 - 1
7-151882714-A-T c.5011T>A p.W1671R Missense 34/59 - 1
7-151882716-T-C c.5009A>G p.D1670G Missense 34/59 - 1
7-151884349-G-C c.5006C>G p.P1669R Missense 33/59 - 2
7-151884356-C-T c.4999G>A p.E1667K Missense 33/59 - 1
7-151884358-TC-T c.4996del p.E1666Kfs*10 Frameshift 33/59 - 1
7-151884382-T-C c.4973A>G p.N1658S Missense 33/59 - 1
7-151884397-G-T c.4958C>A p.P1653Q Missense 33/59 - 1
7-151884412-A-G c.4943T>C p.M1648T Missense 33/59 - 1
7-151884418-C-T c.4937G>A p.G1646D Missense 33/59 - 1
7-151884430-T-C c.4925A>G p.E1642G Missense 33/59 - 1
7-151884431-C-G c.4924G>C p.E1642Q Missense 33/59 - 1
7-151884431-C-T c.4924G>A p.E1642K Missense 33/59 - 1
7-151884437-C-G c.4918G>C p.E1640Q Missense 33/59 - 1
7-151884437-C-T c.4918G>A p.E1640K Missense 33/59 - 1
7-151884446-G-A c.4909C>T p.L1637F Missense 33/59 - 1
7-151884449-T-G c.4906A>C p.T1636P Missense 33/59 - 1
7-151884457-T-C c.4898A>G p.Q1633R Missense 33/59 - 1
7-151884466-G-A c.4889C>T p.S1630L Missense 33/59 - 1
7-151884466-G-T c.4889C>A p.S1630* Nonsense 33/59 - 1
7-151884470-T-C c.4885A>G p.M1629V Missense 33/59 - 1
7-151884482-C-A c.4873G>T p.E1625* Nonsense 33/59 - 1
7-151884482-C-T c.4873G>A p.E1625K Missense 33/59 - 3
7-151884496-G-A c.4859C>T p.P1620L Missense 33/59 - 1
7-151884505-G-A c.4850C>T p.S1617L Missense 33/59 - 1
7-151884505-G-C c.4850C>G p.S1617* Nonsense 33/59 - 1
7-151884505-G-T c.4850C>A p.S1617* Nonsense 33/59 - 1
7-151884538-G-A c.4817C>T p.P1606L Missense 33/59 - 1
7-151884547-G-A c.4808C>T p.A1603V Missense 33/59 - 1
7-151884553-T-C c.4802A>G p.N1601S Missense 33/59 - 1
7-151884793-CTTGTACCTGGCA-C c.4788_4793+6del - SpliceDonorDeletion 32/59 32/58 1
7-151884799-C-T c.4793+1G>A - IntronicSNV - 32/58 1
7-151884810-G-A c.4783C>T p.P1595S Missense 32/59 - 1
7-151884849-C-A c.4744G>T p.G1582* Nonsense 32/59 - 5
7-151884872-T-C c.4721A>G p.H1574R Missense 32/59 - 3
7-151884882-G-A c.4711C>T p.H1571Y Missense 32/59 - 2
7-151884891-A-T c.4702T>A p.S1568T Missense 32/59 - 1
7-151884894-C-T c.4699G>A p.G1567R Missense 32/59 - 1
7-151884903-C-T c.4690G>A p.G1564S Missense 32/59 - 1
7-151884920-C-T c.4673G>A p.R1558Q Missense 32/59 - 1
7-151884921-G-A c.4672C>T p.R1558W Missense 32/59 - 2
7-151884932-T-C c.4661A>G p.D1554G Missense 32/59 - 2
7-151891099-T-C c.4655A>G p.N1552S Missense 31/59 - 1
7-151891110-CA-C c.4643del p.L1548Cfs*15 Frameshift 31/59 - 1
7-151891133-G-A c.4621C>T p.P1541S Missense 31/59 - 1
7-151891152-C-A c.4602G>T p.Q1534H Missense 31/59 - 1
7-151891178-C-A c.4576G>T p.A1526S Missense 31/59 - 1
7-151891193-C-T c.4561G>A p.E1521K Missense 31/59 - 1
7-151891199-C-A c.4555G>T p.D1519Y Missense 31/59 - 1
7-151891205-C-A c.4549G>T p.G1517* Nonsense 31/59 - 1
7-151891205-C-T c.4549G>A p.G1517R Missense 31/59 - 1
7-151891208-C-A c.4546G>T p.G1516C Missense 31/59 - 1
7-151891314-C-T c.4540G>A p.E1514K Missense 30/59 - 1
7-151891332-T-TA c.4521_4522insT p.K1508* Nonsense 30/59 - 1
7-151891341-T-C c.4513A>G p.I1505V Missense 30/59 - 1
7-151891531-T-C c.4501A>G p.T1501A Missense 29/59 - 1
7-151891537-T-C c.4495A>G p.M1499V Missense 29/59 - 1
7-151891544-T-C c.4488A>G p.L1496= Synonymous 29/59 - 1
7-151891547-T-C c.4485A>G p.E1495= Synonymous 29/59 - 1
7-151891555-T-C c.4477A>G p.S1493G Missense 29/59 - 1
7-151891566-T-A c.4466A>T p.D1489V Missense 29/59 - 1
7-151891568-T-C c.4464A>G p.L1488= Synonymous 29/59 - 1
7-151891572-T-C c.4460A>G p.Q1487R Missense 29/59 - 1
7-151891573-G-A c.4459C>T p.Q1487* Nonsense 29/59 - 1
7-151891580-A-G c.4452T>C p.S1484= Synonymous 29/59 - 1
7-151891590-C-T c.4442G>A p.R1481Q Missense 29/59 - 1
7-151891591-G-A c.4441C>T p.R1481* Nonsense 29/59 - 5
7-151891592-T-C c.4440A>G p.S1480= Synonymous 29/59 - 1
7-151891595-ACT-A c.4435_4436del p.S1479Ffs*6 Frameshift 29/59 - 1
7-151891603-T-C c.4429A>G p.N1477D Missense 29/59 - 2
7-151891607-A-G c.4425T>C p.N1475= Synonymous 29/59 - 1
7-151891638-G-A c.4394C>T p.T1465I Missense 29/59 - 1
7-151891641-A-G c.4391T>C p.V1464A Missense 29/59 - 1
7-151891653-T-C c.4379A>G p.D1460G Missense 29/59 - 1
7-151892958-A-C c.4378+34T>G - IntronicSNV - 28/58 1
7-151893019-C-A c.4351G>T p.D1451Y Missense 28/59 - 1
7-151893021-T-A c.4349A>T p.D1450V Missense 28/59 - 1
7-151893034-C-T c.4336G>A p.G1446R Missense 28/59 - 1
7-151893036-A-C c.4334T>G p.L1445R Missense 28/59 - 1
7-151893045-T-A c.4325A>T p.D1442V Missense 28/59 - 1
7-151893053-G-C c.4317C>G p.N1439K Missense 28/59 - 1
7-151893053-G-T c.4317C>A p.N1439K Missense 28/59 - 1
7-151893085-C-T c.4285G>A p.D1429N Missense 28/59 - 1
7-151893093-G-C c.4277C>G p.P1426R Missense 28/59 - 1
7-151896364-C-A c.4273G>T p.G1425C Missense 27/59 - 1
7-151896365-G-A c.4272C>T p.H1424= Synonymous 27/59 - 1
7-151896461-C-CTGTGAATAATTCTACATACCG c.4175_4176insCGGTATGTAGAATTATTCACA p.A1391_Q1392insHGM* Frameshift 27/59 - 1
7-151896465-G-A c.4172C>T p.A1391V Missense 27/59 - 1
7-151896465-G-GAATAATT c.4171_4172insAATTATT p.A1391Efs*8 Frameshift 27/59 - 1
7-151896471-T-TA c.4165_4166insT p.D1389Vfs*8 Frameshift 27/59 - 1
7-151896483-T-C c.4154A>G p.N1385S Missense 27/59 - 1
7-151896487-C-T c.4150G>A p.D1384N Missense 27/59 - 1
7-151896496-T-C c.4141A>G p.I1381V Missense 27/59 - 1
7-151896498-T-A c.4139A>T p.K1380M Missense 27/59 - 1
7-151896525-T-A c.4112A>T p.D1371V Missense 27/59 - 1
7-151899004-G-A c.4092+1015C>T - IntronicSNV - 26/58 3
7-151900032-GGGAAA-G c.4074_4078del p.F1359Cfs*17 Frameshift 26/59 - 1
7-151900049-C-A c.4062G>T p.K1354N Missense 26/59 - 1
7-151900049-C-G c.4062G>C p.K1354N Missense 26/59 - 1
7-151900052-A-AT c.4058dup p.N1353Kfs*2 Frameshift 26/59 - 1
7-151900059-C-A c.4052G>T p.R1351M Missense 26/59 - 1
7-151900059-C-T c.4052G>A p.R1351K Missense 26/59 - 1
7-151900066-G-A c.4045C>T p.R1349* Nonsense 26/59 - 1
7-151900067-G-C c.4044C>G p.Y1348* Nonsense 26/59 - 1
7-151900067-G-T c.4044C>A p.Y1348* Nonsense 26/59 - 1
7-151900070-T-A c.4041A>T p.R1347S Missense 26/59 - 1
7-151900076-C-A c.4035G>T p.K1345N Missense 26/59 - 1
7-151900077-TTTA-T c.4031_4033del p.I1344del InFrameDeletion 26/59 - 1
7-151900080-AT-TA c.4030_4031delinsTA p.I1344* Nonsense 26/59 - 1
7-151900080-AT-A c.4030del p.I1344* Frameshift 26/59 - 1
7-151900104-G-T c.4007C>A p.S1336Y Missense 26/59 - 1
7-151900107-A-G c.4004T>C p.V1335A Missense 26/59 - 1
7-151900111-A-T c.4000T>A p.S1334T Missense 26/59 - 1
7-151900114-C-A c.3997G>T p.E1333* Nonsense 26/59 - 1
7-151900117-C-T c.3994G>A p.D1332N Missense 26/59 - 1
7-151900134-A-C c.3977T>G p.L1326* Nonsense 26/59 - 1
7-151900134-A-T c.3977T>A p.L1326* Nonsense 26/59 - 1
7-151900138-G-A c.3973C>T p.Q1325* Nonsense 26/59 - 1
7-151900141-C-G c.3970G>C p.E1324Q Missense 26/59 - 1
7-151900140-TCA-T c.3969_3970del p.S1323Rfs*9 Frameshift 26/59 - 1
7-151902190-C-T c.3961+1G>A - IntronicSNV - 25/58 1
7-151902191-C-A c.3961G>T p.G1321C Missense 25/59 - 1
7-151902197-C-G c.3955G>C p.D1319H Missense 25/59 - 3
7-151902215-C-G c.3937G>C p.E1313Q Missense 25/59 - 1
7-151902215-C-T c.3937G>A p.E1313K Missense 25/59 - 1
7-151902226-C-A c.3926G>T p.G1309V Missense 25/59 - 1
7-151902236-C-G c.3916G>C p.D1306H Missense 25/59 - 1
7-151902253-C-G c.3899G>C p.R1300T Missense 25/59 - 1
7-151902277-C-T c.3875G>A p.R1292Q Missense 25/59 - 4
7-151902278-G-A c.3874C>T p.R1292* Nonsense 25/59 - 1
7-151902293-C-A c.3859G>T p.V1287L Missense 25/59 - 1
7-151904386-T-C c.3840A>G p.P1280= Synonymous 24/59 - 1
7-151904400-T-C c.3826A>G p.K1276E Missense 24/59 - 1
7-151904402-C-T c.3824G>A p.R1275K Missense 24/59 - 1
7-151904409-T-A c.3817A>T p.R1273* Nonsense 24/59 - 1
7-151904435-A-G c.3791T>C p.V1264A Missense 24/59 - 1
7-151904460-C-A c.3766G>T p.A1256S Missense 24/59 - 1
7-151904462-T-A c.3764A>T p.E1255V Missense 24/59 - 1
7-151904463-C-T c.3763G>A p.E1255K Missense 24/59 - 1
7-151904465-C-T c.3761G>A p.R1254Q Missense 24/59 - 1
7-151904466-G-A c.3760C>T p.R1254W Missense 24/59 - 1
7-151904478-GATTC-G c.3745_3748del p.E1249Lfs*53 Frameshift 24/59 - 1
7-151904490-C-A c.3736G>T p.G1246* Nonsense 24/59 - 1
7-151904492-T-C c.3734A>G p.D1245G Missense 24/59 - 1
7-151904495-C-A c.3731G>T p.C1244F Missense 24/59 - 1
7-151904499-C-A c.3727G>T p.D1243Y Missense 24/59 - 1
7-151904508-C-A c.3718G>T p.E1240* Nonsense 24/59 - 1
7-151904511-C-A c.3715G>T p.G1239* Nonsense 24/59 - 2
7-151911409-T-G c.3712+6199A>C - IntronicSNV - 23/58 1
7-151916708-A-T c.3712+900T>A - IntronicSNV - 23/58 1
7-151916709-C-T c.3712+899G>A - IntronicSNV - 23/58 1
7-151917611-G-A c.3709C>T p.R1237* Nonsense 23/59 - 3
7-151917620-C-A c.3700G>T p.D1234Y Missense 23/59 - 1
7-151917644-C-A c.3676G>T p.E1226* Nonsense 23/59 - 1
7-151917646-G-C c.3674C>G p.S1225* Nonsense 23/59 - 1
7-151917653-T-C c.3667A>G p.I1223V Missense 23/59 - 1
7-151917668-G-A c.3652C>T p.Q1218* Nonsense 23/59 - 2
7-151917670-A-G c.3650T>C p.L1217P Missense 23/59 - 1
7-151917674-C-T c.3646G>A p.V1216I Missense 23/59 - 1
7-151917721-G-C c.3599C>G p.S1200* Nonsense 23/59 - 3
7-151917724-C-T c.3596G>A p.R1199Q Missense 23/59 - 1
7-151917725-G-A c.3595C>T p.R1199W Missense 23/59 - 1
7-151917727-TTTC-T c.3590_3592del p.R1197del InFrameDeletion 23/59 - 1
7-151917736-G-A c.3584C>T p.P1195L Missense 23/59 - 1
7-151917758-G-A c.3562C>T p.Q1188* Nonsense 23/59 - 1
7-151917759-T-C c.3561A>G p.L1187= Synonymous 23/59 - 1
7-151917766-G-A c.3554C>T p.T1185I Missense 23/59 - 1
7-151917773-C-T c.3547G>A p.G1183R Missense 23/59 - 1
7-151917775-G-C c.3545C>G p.S1182* Nonsense 23/59 - 1
7-151917775-G-T c.3545C>A p.S1182* Nonsense 23/59 - 1
7-151917799-T-C c.3521A>G p.Q1174R Missense 23/59 - 1
7-151919092-C-A c.3493G>T p.E1165* Nonsense 22/59 - 2
7-151919097-A-G c.3488T>C p.V1163A Missense 22/59 - 1
7-151919119-C-CT c.3465_3466insA p.V1156Sfs*26 Frameshift 22/59 - 1
7-151919119-C-T c.3466G>A p.V1156I Missense 22/59 - 1
7-151919126-AG-TT c.3458_3459delinsAA p.S1153* Nonsense 22/59 - 1
7-151919142-G-T c.3443C>A p.S1148* Nonsense 22/59 - 1
7-151919142-TG-T c.3443del p.S1148* Frameshift 22/59 - 1
7-151919151-A-T c.3434T>A p.V1145E Missense 22/59 - 1
7-151919674-A-G c.3417T>C p.Y1139= Synonymous 21/59 - 1
7-151919685-A-G c.3406T>C p.C1136R Missense 21/59 - 1
7-151919692-A-T c.3399T>A p.C1133* Nonsense 21/59 - 1
7-151919699-A-C c.3392T>G p.F1131C Missense 21/59 - 1
7-151919707-G-A c.3384C>T p.D1128= Synonymous 21/59 - 1
7-151919712-C-A c.3379G>T p.A1127S Missense 21/59 - 1
7-151919716-CA-C c.3375del p.N1125Kfs*2 Frameshift 21/59 - 1
7-151919733-C-A c.3358G>T p.E1120* Nonsense 21/59 - 3
7-151919734-A-C c.3357T>G p.T1119= Synonymous 21/59 - 1
7-151919734-A-G c.3357T>C p.T1119= Synonymous 21/59 - 1
7-151919734-A-T c.3357T>A p.T1119= Synonymous 21/59 - 1
7-151919751-A-G c.3340T>C p.C1114R Missense 21/59 - 2
7-151919752-AAC-TTA c.3337_3339delinsTAA p.V1113* Nonsense 21/59 - 1
7-151919765-CA-GC c.3325_3326delinsGC p.W1109A Missense 21/59 - 1
7-151921037-G-T c.3323+63C>A - IntronicSNV - 20/58 1
7-151921037-GT-G c.3323+62del - IntronicDeletion - 20/58 1
7-151921076-A-G c.3323+24T>C - IntronicSNV - 20/58 1
7-151921099-C-T c.3323+1G>A - IntronicSNV - 20/58 1
7-151921104-C-T c.3319G>A p.D1107N Missense 20/59 - 1
7-151921114-A-T c.3309T>A p.C1103* Nonsense 20/59 - 1
7-151921127-A-C c.3296T>G p.L1099R Missense 20/59 - 1
7-151921133-T-G c.3290A>C p.E1097A Missense 20/59 - 1
7-151921129-ATCT-A c.3291_3293del p.E1097del InFrameDeletion 20/59 - 1
7-151921149-G-A c.3274C>T p.R1092* Nonsense 20/59 - 3
7-151921164-AG-A c.3258del p.C1087Vfs*31 Frameshift 20/59 - 1
7-151921196-G-A c.3227C>T p.T1076I Missense 20/59 - 1
7-151921209-G-A c.3214C>T p.Q1072* Nonsense 20/59 - 1
7-151921245-A-G c.3178T>C p.C1060R Missense 20/59 - 1
7-151921250-C-CT c.3172dup p.R1058Kfs*13 Frameshift 20/59 - 1
7-151921255-C-T c.3168G>A p.W1056* Nonsense 20/59 - 1
7-151921523-T-A c.3155A>T p.K1052I Missense 19/59 - 1
7-151921535-C-A c.3143G>T p.G1048V Missense 19/59 - 1
7-151921551-T-C c.3127A>G p.T1043A Missense 19/59 - 1
7-151921554-G-A c.3124C>T p.Q1042* Nonsense 19/59 - 1
7-151921559-G-T c.3119C>A p.P1040Q Missense 19/59 - 1
7-151921621-TG-T c.3056del p.P1019Qfs*12 Frameshift 19/59 - 1
7-151921636-CC-GT c.3041_3042delinsAC p.G1014D Missense 19/59 - 1
7-151921641-A-C c.3037T>G p.C1013G Missense 19/59 - 2
7-151921649-C-A c.3029G>T p.C1010F Missense 19/59 - 1
7-151921661-T-C c.3017A>G p.E1006G Missense 19/59 - 1
7-151921662-C-A c.3016G>T p.E1006* Nonsense 19/59 - 1
7-151921667-C-A c.3011G>T p.C1004F Missense 19/59 - 1
7-151921672-C-T c.3006G>A p.W1002* Nonsense 19/59 - 1
7-151921673-C-T c.3005G>A p.W1002* Nonsense 19/59 - 1
7-151921677-C-G c.3001G>C p.G1001R Missense 19/59 - 1
7-151921698-T-C c.2980A>G p.T994A Missense 19/59 - 1
7-151926977-A-G c.2976+31T>C - IntronicSNV - 18/58 1
7-151927007-C-T c.2976+1G>A - IntronicSNV - 18/58 1
7-151927016-T-C c.2968A>G p.S990G Missense 18/59 - 5
7-151927020-A-T c.2964T>A p.C988* Nonsense 18/59 - 1
7-151927021-C-A c.2963G>T p.C988F Missense 18/59 - 13
7-151927021-C-T c.2963G>A p.C988Y Missense 18/59 - 1
7-151927023-G-C c.2961C>G p.Y987* Nonsense 18/59 - 5
7-151927023-G-T c.2961C>A p.Y987* Nonsense 18/59 - 3
7-151927025-A-G c.2959T>C p.Y987H Missense 18/59 - 12
7-151927026-T-C c.2958A>G p.P986= Synonymous 18/59 - 3
7-151927033-T-A c.2951A>T p.Y984F Missense 18/59 - 1
7-151927036-C-A c.2948G>T p.C983F Missense 18/59 - 1
7-151927036-C-G c.2948G>C p.C983S Missense 18/59 - 1
7-151927037-A-T c.2947T>A p.C983S Missense 18/59 - 1
7-151927051-G-A c.2933C>T p.S978F Missense 18/59 - 1
7-151927051-G-T c.2933C>A p.S978Y Missense 18/59 - 1
7-151927058-C-T c.2926G>A p.A976T Missense 18/59 - 3
7-151927060-A-C c.2924T>G p.L975R Missense 18/59 - 1
7-151927064-A-G c.2920T>C p.L974= Synonymous 18/59 - 1
7-151927065-T-TC c.2918dup p.L974Ifs*19 Frameshift 18/59 - 1
7-151927067-T-C c.2917A>G p.R973G Missense 18/59 - 4
7-151927070-C-G c.2914G>C p.G972R Missense 18/59 - 1
7-151927070-C-T c.2914G>A p.G972R Missense 18/59 - 2
7-151927073-C-T c.2911G>A p.E971K Missense 18/59 - 1
7-151927074-T-TC c.2909_2910insG p.E971Rfs*22 Frameshift 18/59 - 1
7-151927077-T-C c.2907A>G p.G969= Synonymous 18/59 - 1
7-151927089-A-G c.2895T>C p.S965= Synonymous 18/59 - 1
7-151927107-C-T c.2877G>A p.M959I Missense 18/59 - 1
7-151927127-A-G c.2872-15T>C - IntronicSNV - 17/58 1
7-151927315-G-A c.2861C>T p.T954I Missense 17/59 - 4
7-151927337-A-G c.2839T>C p.F947L Missense 17/59 - 1
7-151927357-A-G c.2819T>C p.M940T Missense 17/59 - 1
7-151927358-AT-A c.2818del p.M940Cfs*16 Frameshift 17/59 - 1
7-151927370-C-T c.2806G>A p.E936K Missense 17/59 - 1
7-151927377-C-A c.2799G>T p.K933N Missense 17/59 - 1
7-151927377-C-T c.2799G>A p.K933= Synonymous 17/59 - 1
7-151927380-A-AT c.2795dup p.N932Kfs*2 Frameshift 17/59 - 1
7-151927384-TGATG-T c.2789_2792del p.S930* Frameshift 17/59 - 1
7-151927387-G-GTT c.2788_2789insAA p.S930* Nonsense 17/59 - 1
7-151927406-C-T c.2770G>A p.V924M Missense 17/59 - 1
7-151932819-T-A c.2769+83A>T - IntronicSNV - 16/58 1
7-151932881-T-C c.2769+21A>G - IntronicSNV - 16/58 1
7-151932895-G-A c.2769+7C>T - IntronicSNV - 16/58 1
7-151932897-C-A c.2769+5G>T - IntronicSNV - 16/58 3
7-151932904-C-A c.2767G>T p.G923W Missense 16/59 - 1
7-151932908-T-C c.2763A>G p.L921= Synonymous 16/59 - 3
7-151932913-C-A c.2758G>T p.V920L Missense 16/59 - 1
7-151932916-C-G c.2755G>C p.V919L Missense 16/59 - 3
7-151932922-C-T c.2749G>A p.G917R Missense 16/59 - 1
7-151932923-G-A c.2748C>T p.I916= Synonymous 16/59 - 4
7-151932923-G-T c.2748C>A p.I916= Synonymous 16/59 - 2
7-151932943-A-G c.2728T>C p.S910P Missense 16/59 - 1
7-151932945-C-A c.2726G>T p.R909M Missense 16/59 - 1
7-151932945-C-T c.2726G>A p.R909K Missense 16/59 - 8
7-151932946-T-C c.2725A>G p.R909G Missense 16/59 - 1
7-151932949-C-A c.2722G>T p.G908C Missense 16/59 - 8
7-151932951-C-T c.2720G>A p.R907Q Missense 16/59 - 1
7-151932952-G-A c.2719C>T p.R907* Nonsense 16/59 - 1
7-151932955-C-T c.2716G>A p.G906S Missense 16/59 - 1
7-151932960-C-T c.2711G>A p.R904Q Missense 16/59 - 2
7-151932961-G-A c.2710C>T p.R904* Nonsense 16/59 - 4
7-151932965-C-A c.2706G>T p.S902= Synonymous 16/59 - 1
7-151932965-C-G c.2706G>C p.S902= Synonymous 16/59 - 1
7-151932965-C-T c.2706G>A p.S902= Synonymous 16/59 - 1
7-151932969-A-G c.2702T>C p.L901P Missense 16/59 - 1
7-151932972-C-A c.2699G>T p.G900V Missense 16/59 - 1
7-151932973-C-G c.2698G>C p.G900R Missense 16/59 - 1
7-151932977-AC-A c.2693del p.G898Vfs*15 Frameshift 16/59 - 3
7-151932981-C-G c.2690G>C p.R897P Missense 16/59 - 1
7-151932981-C-T c.2690G>A p.R897Q Missense 16/59 - 1
7-151932982-G-A c.2689C>T p.R897* Nonsense 16/59 - 6
7-151932985-G-A c.2686C>T p.P896S Missense 16/59 - 2
7-151932987-C-T c.2684G>A p.R895K Missense 16/59 - 1
7-151932989-CCG-ACA c.2680_2682delinsTGT p.R894C Missense 16/59 - 1
7-151932990-C-T c.2681G>A p.R894Q Missense 16/59 - 8
7-151932991-G-A c.2680C>T p.R894W Missense 16/59 - 1
7-151932996-C-T c.2675G>A p.G892E Missense 16/59 - 1
7-151932997-C-A c.2674G>T p.G892* Nonsense 16/59 - 1
7-151932997-C-G c.2674G>C p.G892R Missense 16/59 - 4
7-151932997-C-T c.2674G>A p.G892R Missense 16/59 - 6
7-151932999-G-A c.2672C>T p.P891L Missense 16/59 - 1
7-151933008-G-A c.2663C>T p.S888F Missense 16/59 - 1
7-151933009-A-T c.2662T>A p.S888T Missense 16/59 - 1
7-151933010-C-T c.2661G>A p.G887= Synonymous 16/59 - 1
7-151933014-C-T c.2657G>A p.R886H Missense 16/59 - 5
7-151933015-G-A c.2656C>T p.R886C Missense 16/59 - 3
7-151933054-A-T c.2653-36T>A - IntronicSNV - 15/58 1
7-151935730-T-C c.2652+62A>G - IntronicSNV - 15/58 1
7-151935793-A-G c.2651T>C p.V884A Missense 15/59 - 1
7-151935793-A-AC c.2650dup p.V884Gfs*50 SpliceDonorInsertion 15/59 - 1
7-151935794-C-CT c.2649dup p.V884Sfs*50 Frameshift 15/59 - 1
7-151935798-G-T c.2646C>A p.I882= Synonymous 15/59 - 1
7-151935798-TG-T c.2646del p.V884Wfs*29 Frameshift 15/59 - 1
7-151935799-A-G c.2645T>C p.I882T Missense 15/59 - 3
7-151935799-GA-G c.2645del p.I882Tfs*31 Frameshift 15/59 - 1
7-151935814-C-A c.2630G>T p.S877I Missense 15/59 - 1
7-151935830-T-A c.2614A>T p.R872W Missense 15/59 - 1
7-151935831-G-A c.2613C>T p.P871= Synonymous 15/59 - 3
7-151935831-G-C c.2613C>G p.P871= Synonymous 15/59 - 1
7-151935831-G-T c.2613C>A p.P871= Synonymous 15/59 - 1
7-151935833-G-T c.2611C>A p.P871T Missense 15/59 - 1
7-151935853-T-C c.2591A>G p.E864G Missense 15/59 - 11
7-151935860-T-C c.2584A>G p.I862V Missense 15/59 - 1
7-151935866-G-A c.2578C>T p.P860S Missense 15/59 - 1
7-151935870-C-G c.2574G>C p.W858C Missense 15/59 - 1
7-151935871-C-A c.2573G>T p.W858L Missense 15/59 - 4
7-151935877-G-A c.2567C>T p.P856L Missense 15/59 - 1
7-151935910-C-T c.2534G>A p.G845E Missense 15/59 - 4
7-151935962-A-C c.2533-51T>G - IntronicSNV - 14/58 1
7-151935962-A-T c.2533-51T>A - IntronicSNV - 14/58 1
7-151944987-C-A c.2532G>T p.Q844H Missense 14/59 - 1
7-151944989-G-T c.2530C>A p.Q844K Missense 14/59 - 1
7-151944991-T-G c.2528A>C p.K843T Missense 14/59 - 1
7-151944996-C-A c.2523G>T p.R841= Synonymous 14/59 - 1
7-151944997-C-T c.2522G>A p.R841Q Missense 14/59 - 2
7-151944998-G-A c.2521C>T p.R841W Missense 14/59 - 5
7-151945000-G-T c.2519C>A p.P840H Missense 14/59 - 1
7-151945001-G-A c.2518C>T p.P840S Missense 14/59 - 1
7-151945003-C-G c.2516G>C p.R839T Missense 14/59 - 1
7-151945007-C-A c.2512G>T p.G838C Missense 14/59 - 1
7-151945007-C-T c.2512G>A p.G838S Missense 14/59 - 12
7-151945012-AG-A c.2507del p.S836Ffs*18 Frameshift 14/59 - 1
7-151945014-A-C c.2505T>G p.F835L Missense 14/59 - 1
7-151945021-C-T c.2498G>A p.R833K Missense 14/59 - 2
7-151945026-A-C c.2493T>G p.T831= Synonymous 14/59 - 1
7-151945026-A-G c.2493T>C p.T831= Synonymous 14/59 - 1
7-151945026-A-T c.2493T>A p.T831= Synonymous 14/59 - 1
7-151945037-G-A c.2482C>T p.P828S Missense 14/59 - 1
7-151945043-C-A c.2476G>T p.G826C Missense 14/59 - 3
7-151945044-C-A c.2475G>T p.M825I Missense 14/59 - 1
7-151945044-C-G c.2475G>C p.M825I Missense 14/59 - 1
7-151945044-C-T c.2475G>A p.M825I Missense 14/59 - 1
7-151945048-C-A c.2471G>T p.G824V Missense 14/59 - 2
7-151945048-C-T c.2471G>A p.G824D Missense 14/59 - 1
7-151945051-A-G c.2468T>C p.I823T Missense 14/59 - 4
7-151945051-A-T c.2468T>A p.I823N Missense 14/59 - 1
7-151945054-T-TC c.2464_2465insG p.K822Rfs*6 Frameshift 14/59 - 1
7-151945057-G-A c.2462C>T p.P821L Missense 14/59 - 1
7-151945058-G-T c.2461C>A p.P821T Missense 14/59 - 1
7-151945060-G-A c.2459C>T p.T820I Missense 14/59 - 7
7-151945071-G-C c.2448C>G p.Y816* Nonsense 14/59 - 1
7-151945071-G-T c.2448C>A p.Y816* Nonsense 14/59 - 1
7-151945071-G-GT c.2447dup p.Y816* Nonsense 14/59 - 14
7-151945075-G-A c.2444C>T p.T815I Missense 14/59 - 1
7-151945086-G-A c.2433C>T p.I811= Synonymous 14/59 - 1
7-151945088-T-C c.2431A>G p.I811V Missense 14/59 - 1
7-151945093-C-T c.2426G>A p.G809E Missense 14/59 - 1
7-151945097-C-T c.2422G>A p.A808T Missense 14/59 - 1
7-151945101-G-C c.2418C>G p.S806= Synonymous 14/59 - 3
7-151945106-T-TGG c.2412_2413insCC p.S805Pfs*50 Frameshift 14/59 - 1
7-151945108-A-C c.2411T>G p.L804R Missense 14/59 - 1
7-151945109-G-C c.2410C>G p.L804V Missense 14/59 - 3
7-151945114-G-C c.2405C>G p.S802* Nonsense 14/59 - 1
7-151945114-G-T c.2405C>A p.S802* Nonsense 14/59 - 1
7-151945114-GA-G c.2404del p.S802Qfs*52 Frameshift 14/59 - 1
7-151945117-G-A c.2402C>T p.P801L Missense 14/59 - 1
7-151945118-G-A c.2401C>T p.P801S Missense 14/59 - 1
7-151945120-T-A c.2399A>T p.Y800F Missense 14/59 - 1
7-151945136-C-T c.2383G>A p.D795N Missense 14/59 - 1
7-151945140-C-T c.2379G>A p.S793= Synonymous 14/59 - 1
7-151945144-G-A c.2375C>T p.P792L Missense 14/59 - 1
7-151945153-G-C c.2366C>G p.S789* Nonsense 14/59 - 1
7-151945153-G-T c.2366C>A p.S789* Nonsense 14/59 - 2
7-151945165-G-A c.2354C>T p.P785L Missense 14/59 - 1
7-151945167-G-T c.2352C>A p.S784= Synonymous 14/59 - 1
7-151945168-G-T c.2351C>A p.S784Y Missense 14/59 - 1
7-151945169-AGGAAGACACATCT-A c.2337_2349del p.D780Pfs*70 Frameshift 14/59 - 1
7-151945189-C-CT c.2329dup p.S777Kfs*19 Frameshift 14/59 - 1
7-151945199-C-T c.2320G>A p.A774T Missense 14/59 - 1
7-151945204-G-A c.2315C>T p.S772L Missense 14/59 - 8
7-151945207-G-A c.2312C>T p.S771L Missense 14/59 - 1
7-151945215-T-C c.2304A>G p.S768= Synonymous 14/59 - 3
7-151945225-T-C c.2294A>G p.E765G Missense 14/59 - 2
7-151945228-G-A c.2291C>T p.S764F Missense 14/59 - 5
7-151945231-G-T c.2288C>A p.S763* Nonsense 14/59 - 1
7-151945256-G-A c.2263C>T p.Q755* Nonsense 14/59 - 5
7-151945286-T-C c.2233A>G p.I745V Missense 14/59 - 1
7-151945291-G-A c.2228C>T p.P743L Missense 14/59 - 3
7-151945296-C-T c.2223G>A p.M741I Missense 14/59 - 1
7-151945297-A-G c.2222T>C p.M741T Missense 14/59 - 3
7-151945319-TAGAAAGTTCAG-T c.2189_2199del p.S730Yfs*7 Frameshift 14/59 - 1
7-151945319-TAGA-T c.2197_2199del p.S733del InFrameDeletion 14/59 - 1
7-151945321-AG-A c.2198del p.S733Lfs*4 Frameshift 14/59 - 2
7-151945328-C-T c.2191G>A p.E731K Missense 14/59 - 1
7-151945330-GA-CG c.2188_2189delinsCG p.S730R Missense 14/59 - 1
7-151945330-G-T c.2189C>A p.S730Y Missense 14/59 - 2
7-151945334-T-C c.2185A>G p.N729D Missense 14/59 - 7
7-151945336-T-G c.2183A>C p.E728A Missense 14/59 - 1
7-151945349-T-A c.2170A>T p.K724* Nonsense 14/59 - 1
7-151945354-C-A c.2165G>T p.G722V Missense 14/59 - 1
7-151945355-C-A c.2164G>T p.G722* Nonsense 14/59 - 1
7-151945367-C-A c.2152G>T p.E718* Nonsense 14/59 - 1
7-151945370-T-C c.2149A>G p.I717V Missense 14/59 - 1
7-151945374-C-CT c.2144_2145insA p.V716Gfs*16 Frameshift 14/59 - 1
7-151945392-T-C c.2127A>G p.L709= Synonymous 14/59 - 1
7-151945394-A-G c.2125T>C p.L709= Synonymous 14/59 - 1
7-151945396-G-T c.2123C>A p.S708* Nonsense 14/59 - 1
7-151945399-A-G c.2120T>C p.I707T Missense 14/59 - 4
7-151945400-T-A c.2119A>T p.I707F Missense 14/59 - 1
7-151945409-C-A c.2110G>T p.E704* Nonsense 14/59 - 2
7-151945418-A-G c.2101T>C p.S701P Missense 14/59 - 1
7-151945425-G-A c.2094C>T p.T698= Synonymous 14/59 - 1
7-151945425-G-C c.2094C>G p.T698= Synonymous 14/59 - 1
7-151945425-G-T c.2094C>A p.T698= Synonymous 14/59 - 1
7-151945474-G-A c.2045C>T p.S682L Missense 14/59 - 1
7-151945474-G-C c.2045C>G p.S682* Nonsense 14/59 - 1
7-151945479-T-G c.2040A>C p.E680D Missense 14/59 - 1
7-151945480-T-C c.2039A>G p.E680G Missense 14/59 - 1
7-151945483-C-T c.2036G>A p.R679K Missense 14/59 - 1
7-151945493-C-T c.2026G>A p.V676M Missense 14/59 - 1
7-151945499-C-T c.2020G>A p.E674K Missense 14/59 - 1
7-151945503-T-A c.2016A>T p.E672D Missense 14/59 - 1
7-151945503-T-G c.2016A>C p.E672D Missense 14/59 - 1
7-151945512-AC-A c.2007del p.L669Ffs*2 Frameshift 14/59 - 1
7-151945524-T-C c.1995A>G p.E665= Synonymous 14/59 - 1
7-151945523-GT-G c.1995del p.E665Dfs*6 Frameshift 14/59 - 1
7-151945525-T-A c.1994A>T p.E665V Missense 14/59 - 1
7-151945527-T-G c.1992A>C p.Q664H Missense 14/59 - 1
7-151945549-G-GT c.1969dup p.T657Nfs*18 Frameshift 14/59 - 1
7-151945574-C-T c.1945G>A p.V649M Missense 14/59 - 1
7-151945577-C-T c.1942G>A p.E648K Missense 14/59 - 1
7-151945595-G-A c.1924C>T p.Q642* Nonsense 14/59 - 1
7-151945600-T-C c.1919A>G p.E640G Missense 14/59 - 1
7-151945602-G-A c.1917C>T p.G639= Synonymous 14/59 - 1
7-151945602-G-C c.1917C>G p.G639= Synonymous 14/59 - 1
7-151945602-G-T c.1917C>A p.G639= Synonymous 14/59 - 1
7-151945631-T-A c.1888A>T p.M630L Missense 14/59 - 1
7-151945630-AT-A c.1888del p.M630Cfs*5 Frameshift 14/59 - 2
7-151945688-C-A c.1831G>T p.V611L Missense 14/59 - 1
7-151946965-AAT-A c.1807_1808del p.I603Cfs*11 Frameshift 13/59 - 1
7-151946968-A-C c.1806T>G p.L602= Synonymous 13/59 - 1
7-151946968-A-G c.1806T>C p.L602= Synonymous 13/59 - 1
7-151946967-TAAG-T c.1804_1806del p.L602del InFrameDeletion 13/59 - 2
7-151946974-A-C c.1800T>G p.S600R Missense 13/59 - 1
7-151946975-CTA-C c.1797_1798del p.D599Efs*15 Frameshift 13/59 - 1
7-151946982-T-C c.1792A>G p.T598A Missense 13/59 - 1
7-151946994-C-A c.1780G>T p.E594* Nonsense 13/59 - 1
7-151947011-T-C c.1763A>G p.Q588R Missense 13/59 - 1
7-151947030-C-CT c.1743dup p.V582Sfs*4 Frameshift 13/59 - 1
7-151947037-C-A c.1737G>T p.A579= Synonymous 13/59 - 1
7-151947947-C-A c.1726G>T p.V576F Missense 12/59 - 1
7-151947953-C-G c.1720G>C p.G574R Missense 12/59 - 1
7-151947953-C-T c.1720G>A p.G574R Missense 12/59 - 1
7-151947961-G-A c.1712C>T p.S571F Missense 12/59 - 1
7-151947971-C-G c.1702G>C p.G568R Missense 12/59 - 1
7-151947980-C-A c.1693G>T p.D565Y Missense 12/59 - 1
7-151947983-T-A c.1690A>T p.K564* Nonsense 12/59 - 3
7-151948021-G-A c.1652C>T p.P551L Missense 12/59 - 1
7-151948040-C-A c.1633G>T p.E545* Nonsense 12/59 - 1
7-151948040-C-T c.1633G>A p.E545K Missense 12/59 - 3
7-151949034-C-T c.1611G>A p.E537= Synonymous 11/59 - 1
7-151949042-T-C c.1603A>G p.I535V Missense 11/59 - 1
7-151949059-G-A c.1586C>T p.P529L Missense 11/59 - 1
7-151949060-G-A c.1585C>T p.P529S Missense 11/59 - 1
7-151949068-C-G c.1577G>C p.R526P Missense 11/59 - 3
7-151949068-C-T c.1577G>A p.R526H Missense 11/59 - 1
7-151949071-T-C c.1574A>G p.D525G Missense 11/59 - 1
7-151949091-T-G c.1554A>C p.K518N Missense 11/59 - 1
7-151949126-G-A c.1519C>T p.Q507* Nonsense 11/59 - 1
7-151949147-T-C c.1498A>G p.T500A Missense 11/59 - 1
7-151949160-C-CTG c.1484_1485insCA p.E495Dfs*42 Frameshift 11/59 - 1
7-151949162-C-G c.1483G>C p.E495Q Missense 11/59 - 1
7-151949168-G-A c.1477C>T p.H493Y Missense 11/59 - 1
7-151949173-C-A c.1472G>T p.W491L Missense 11/59 - 1
7-151949572-A-C c.1469+59T>G - IntronicSNV - 10/58 1
7-151949640-A-G c.1460T>C p.M487T Missense 10/59 - 1
7-151949663-C-A c.1437G>T p.Q479H Missense 10/59 - 1
7-151949663-C-G c.1437G>C p.Q479H Missense 10/59 - 1
7-151949667-A-C c.1433T>G p.L478W Missense 10/59 - 1
7-151949674-G-A c.1426C>T p.P476S Missense 10/59 - 1
7-151949677-G-A c.1423C>T p.H475Y Missense 10/59 - 2
7-151949678-A-C c.1422T>G p.Y474* Nonsense 10/59 - 1
7-151949678-A-G c.1422T>C p.Y474= Synonymous 10/59 - 2
7-151949680-AACACTTCCC-A c.1411_1419del p.G471_C473del InFrameDeletion 10/59 - 1
7-151949689-C-A c.1411G>T p.G471W Missense 10/59 - 1
7-151949689-C-CGA c.1410_1411insTC p.G471Sfs*25 Frameshift 10/59 - 1
7-151949698-G-T c.1402C>A p.P468T Missense 10/59 - 1
7-151949699-A-T c.1401T>A p.C467* Nonsense 10/59 - 1
7-151949713-G-A c.1387C>T p.Q463* Nonsense 10/59 - 1
7-151949715-T-A c.1385A>T p.Q462L Missense 10/59 - 1
7-151949716-G-A c.1384C>T p.Q462* Nonsense 10/59 - 1
7-151949719-G-T c.1381C>A p.Q461K Missense 10/59 - 1
7-151949720-G-C c.1380C>G p.Y460* Nonsense 10/59 - 1
7-151949720-G-T c.1380C>A p.Y460* Nonsense 10/59 - 1
7-151949721-TA-T c.1378del p.Y460Tfs*35 Frameshift 10/59 - 1
7-151949723-A-G c.1377T>C p.C459= Synonymous 10/59 - 1
7-151949730-T-C c.1370A>G p.D457G Missense 10/59 - 1
7-151949731-C-A c.1369G>T p.D457Y Missense 10/59 - 1
7-151949733-C-G c.1367G>C p.C456S Missense 10/59 - 1
7-151949734-A-T c.1366T>A p.C456S Missense 10/59 - 1
7-151949735-T-C c.1365A>G p.I455M Missense 10/59 - 1
7-151949753-C-T c.1347G>A p.W449* Nonsense 10/59 - 1
7-151949754-C-T c.1346G>A p.W449* Nonsense 10/59 - 1
7-151949756-C-A c.1344G>T p.Q448H Missense 10/59 - 1
7-151949756-C-G c.1344G>C p.Q448H Missense 10/59 - 1
7-151949763-ACT-A c.1336_1337del p.S446Ffs*11 Frameshift 10/59 - 1
7-151949769-C-T c.1331G>A p.R444Q Missense 10/59 - 2
7-151949770-G-A c.1330C>T p.R444W Missense 10/59 - 1
7-151949775-C-A c.1325G>T p.G442V Missense 10/59 - 1
7-151949785-T-C c.1315A>G p.I439V Missense 10/59 - 2
7-151949787-C-T c.1313G>A p.C438Y Missense 10/59 - 1
7-151949795-GCAATT-TTAAAGTTGGTTAAATACAAAAAGGATGATACC c.1300_1305delinsGGTATCATCCTTTTTGTATTTAACCAACTTTAA p.N434_C435delinsGIILFVFNQL* MultiAAMissense 10/59 - 1
7-151949796-C-T c.1304G>A p.C435Y Missense 10/59 - 2
7-151955297-G-A c.1299+4804C>T - IntronicSNV - 9/58 1
7-151960110-C-A c.1290G>T p.W430C Missense 9/59 - 2
7-151960110-C-G c.1290G>C p.W430C Missense 9/59 - 2
7-151960110-C-T c.1290G>A p.W430* Nonsense 9/59 - 1
7-151960111-C-A c.1289G>T p.W430L Missense 9/59 - 1
7-151960111-C-T c.1289G>A p.W430* Nonsense 9/59 - 2
7-151960123-G-T c.1277C>A p.P426Q Missense 9/59 - 1
7-151960145-G-A c.1255C>T p.Q419* Nonsense 9/59 - 1
7-151960160-G-A c.1240C>T p.H414Y Missense 9/59 - 2
7-151960166-C-CA c.1233_1234insT p.G412Wfs*35 Frameshift 9/59 - 1
7-151960170-G-A c.1230C>T p.D410= Synonymous 9/59 - 1
7-151960176-C-A c.1224G>T p.T408= Synonymous 9/59 - 1
7-151960176-C-G c.1224G>C p.T408= Synonymous 9/59 - 1
7-151960176-C-T c.1224G>A p.T408= Synonymous 9/59 - 1
7-151960178-GT-G c.1222del p.T408Rfs*15 Frameshift 9/59 - 1
7-151960180-T-A c.1220A>T p.D407V Missense 9/59 - 1
7-151960180-T-C c.1220A>G p.D407G Missense 9/59 - 1
7-151960194-TC-T c.1206del p.M403Cfs*2 Frameshift 9/59 - 1
7-151960202-C-T c.1198G>A p.D400N Missense 9/59 - 2
7-151960210-G-A c.1190C>T p.S397L Missense 9/59 - 1
7-151960211-A-G c.1189T>C p.S397P Missense 9/59 - 1
7-151960214-G-C c.1186C>G p.Q396E Missense 9/59 - 1
7-151962062-A-G c.1184+61T>C - IntronicSNV - 8/58 1
7-151962113-G-T c.1184+10C>A - IntronicSNV - 8/58 1
7-151962126-C-T c.1181G>A p.C394Y Missense 8/59 - 6
7-151962128-G-A c.1179C>T p.N393= Synonymous 8/59 - 1
7-151962128-G-C c.1179C>G p.N393K Missense 8/59 - 1
7-151962128-G-T c.1179C>A p.N393K Missense 8/59 - 1
7-151962133-G-A c.1174C>T p.Q392* Nonsense 8/59 - 1
7-151962134-G-T c.1173C>A p.C391* Nonsense 8/59 - 9
7-151962135-C-A c.1172G>T p.C391F Missense 8/59 - 1
7-151962144-C-T c.1163G>A p.C388Y Missense 8/59 - 2
7-151962153-C-A c.1154G>T p.C385F Missense 8/59 - 1
7-151962153-C-T c.1154G>A p.C385Y Missense 8/59 - 1
7-151962157-G-A c.1150C>T p.Q384* Nonsense 8/59 - 1
7-151962158-C-T c.1149G>A p.W383* Nonsense 8/59 - 1
7-151962159-C-A c.1148G>T p.W383L Missense 8/59 - 1
7-151962159-C-T c.1148G>A p.W383* Nonsense 8/59 - 1
7-151962162-CC-GT c.1144_1145delinsAC p.G382T Missense 8/59 - 1
7-151962162-C-T c.1145G>A p.G382D Missense 8/59 - 3
7-151962163-C-A c.1144G>T p.G382C Missense 8/59 - 1
7-151962163-C-G c.1144G>C p.G382R Missense 8/59 - 1
7-151962168-AC-A c.1139del p.R380Lfs*25 Frameshift 8/59 - 1
7-151962168-C-A c.1139G>T p.R380L Missense 8/59 - 11
7-151962168-C-G c.1139G>C p.R380P Missense 8/59 - 2
7-151962168-C-T c.1139G>A p.R380H Missense 8/59 - 1
7-151962169-G-A c.1138C>T p.R380C Missense 8/59 - 1
7-151962176-T-A c.1131A>T p.P377= Synonymous 8/59 - 4
7-151962184-C-T c.1123G>A p.V375I Missense 8/59 - 1
7-151962186-G-T c.1121C>A p.A374E Missense 8/59 - 1
7-151962192-ATC-A c.1114_1115del p.D372Yfs*15 Frameshift 8/59 - 1
7-151962192-T-A c.1115A>T p.D372V Missense 8/59 - 1
7-151962193-C-A c.1114G>T p.D372Y Missense 8/59 - 1
7-151962198-C-A c.1109G>T p.C370F Missense 8/59 - 1
7-151962198-C-T c.1109G>A p.C370Y Missense 8/59 - 1
7-151962204-C-A c.1103G>T p.G368V Missense 8/59 - 1
7-151962207-T-C c.1100A>G p.H367R Missense 8/59 - 1
7-151962207-TG-GC c.1099_1100delinsGC p.H367A Missense 8/59 - 1
7-151962208-G-A c.1099C>T p.H367Y Missense 8/59 - 1
7-151962208-G-C c.1099C>G p.H367D Missense 8/59 - 1
7-151962211-A-T c.1096T>A p.Y366N Missense 8/59 - 1
7-151962212-G-T c.1095C>A p.H365Q Missense 8/59 - 1
7-151962217-G-A c.1090C>T p.Q364* Nonsense 8/59 - 1
7-151962220-C-G c.1087G>C p.G363R Missense 8/59 - 1
7-151962222-C-A c.1085G>T p.C362F Missense 8/59 - 1
7-151962222-C-T c.1085G>A p.C362Y Missense 8/59 - 1
7-151962225-G-A c.1082C>T p.T361I Missense 8/59 - 1
7-151962226-T-C c.1081A>G p.T361A Missense 8/59 - 1
7-151962231-C-G c.1076G>C p.C359S Missense 8/59 - 1
7-151962231-C-T c.1076G>A p.C359Y Missense 8/59 - 1
7-151962235-A-C c.1072T>G p.F358V Missense 8/59 - 1
7-151962236-G-C c.1071C>G p.F357L Missense 8/59 - 1
7-151962236-G-T c.1071C>A p.F357L Missense 8/59 - 1
7-151962238-A-G c.1069T>C p.F357L Missense 8/59 - 1
7-151962257-C-T c.1050G>A p.P350= Synonymous 8/59 - 3
7-151962265-C-T c.1042G>A p.D348N Missense 8/59 - 19
7-151962266-G-A c.1041C>T p.C347= Synonymous 8/59 - 1
7-151962268-A-C c.1039T>G p.C347G Missense 8/59 - 2
7-151962269-C-A c.1038G>T p.V346= Synonymous 8/59 - 2
7-151962269-C-G c.1038G>C p.V346= Synonymous 8/59 - 2
7-151962269-C-T c.1038G>A p.V346= Synonymous 8/59 - 2
7-151962278-G-T c.1029C>A p.N343K Missense 8/59 - 1
7-151962289-C-T c.1018G>A p.E340K Missense 8/59 - 1
7-151962290-C-A c.1017G>T p.K339N Missense 8/59 - 7
7-151962290-C-G c.1017G>C p.K339N Missense 8/59 - 13
7-151962294-G-A c.1013C>T p.S338L Missense 8/59 - 7
7-151962296-T-C c.1013-2A>G - IntronicSNV - 7/58 2
7-151967254-G-A c.1012+3536C>T - IntronicSNV - 7/58 1
7-151970687-A-C c.1012+103T>G - IntronicSNV - 7/58 1
7-151970695-A-T c.1012+95T>A - IntronicSNV - 7/58 1
7-151970710-C-A c.1012+80G>T - IntronicSNV - 7/58 1
7-151970714-C-A c.1012+76G>T - IntronicSNV - 7/58 1
7-151970774-T-C c.1012+16A>G - IntronicSNV - 7/58 1
7-151970775-C-G c.1012+15G>C - IntronicSNV - 7/58 1
7-151970777-G-A c.1012+13C>T - IntronicSNV - 7/58 2
7-151970791-TCT-ATG c.1009_1011delinsCAT p.R337H Missense 7/59 - 1
7-151970792-C-T c.1010G>A p.R337K Missense 7/59 - 1
7-151970795-T-C c.1007A>G p.E336G Missense 7/59 - 1
7-151970797-A-C c.1005T>G p.P335= Synonymous 7/59 - 1
7-151970797-A-G c.1005T>C p.P335= Synonymous 7/59 - 2
7-151970797-A-T c.1005T>A p.P335= Synonymous 7/59 - 4
7-151970799-G-A c.1003C>T p.P335S Missense 7/59 - 1
7-151970801-G-A c.1001C>T p.A334V Missense 7/59 - 1
7-151970806-G-A c.996C>T p.D332= Synonymous 7/59 - 1
7-151970808-C-T c.994G>A p.D332N Missense 7/59 - 2
7-151970811-T-C c.991A>G p.I331V Missense 7/59 - 3
7-151970822-C-A c.980G>T p.C327F Missense 7/59 - 2
7-151970822-C-G c.980G>C p.C327S Missense 7/59 - 1
7-151970827-GC-G c.975del p.L326Ffs*29 Frameshift 7/59 - 1
7-151970828-AG-A c.973del p.L325Cfs*30 Frameshift 7/59 - 2
7-151970835-AT-A c.967del p.I323Sfs*32 Frameshift 7/59 - 1
7-151970835-T-C c.967A>G p.I323V Missense 7/59 - 3
7-151970837-T-A c.965A>T p.H322L Missense 7/59 - 1
7-151970840-C-T c.962G>A p.S321N Missense 7/59 - 3
7-151970841-T-TA c.960_961insT p.S321* Nonsense 7/59 - 1
7-151970846-T-C c.956A>G p.D319G Missense 7/59 - 1
7-151970847-C-A c.955G>T p.D319Y Missense 7/59 - 2
7-151970847-C-G c.955G>C p.D319H Missense 7/59 - 1
7-151970850-G-A c.952C>T p.Q318* Nonsense 7/59 - 1
7-151970854-G-A c.948C>T p.T316= Synonymous 7/59 - 2
7-151970854-G-C c.948C>G p.T316= Synonymous 7/59 - 1
7-151970854-G-T c.948C>A p.T316= Synonymous 7/59 - 1
7-151970855-G-A c.947C>T p.T316I Missense 7/59 - 1
7-151970855-G-C c.947C>G p.T316S Missense 7/59 - 7
7-151970855-G-T c.947C>A p.T316N Missense 7/59 - 1
7-151970856-T-A c.946A>T p.T316S Missense 7/59 - 15
7-151970858-C-G c.944G>C p.G315A Missense 7/59 - 1
7-151970858-C-T c.944G>A p.G315D Missense 7/59 - 3
7-151970859-C-A c.943G>T p.G315C Missense 7/59 - 5
7-151970859-C-T c.943G>A p.G315S Missense 7/59 - 15
7-151970870-G-C c.932C>G p.A311G Missense 7/59 - 1
7-151970871-C-A c.931G>T p.A311S Missense 7/59 - 1
7-151970872-A-T c.930T>A p.C310* Nonsense 7/59 - 1
7-151970873-C-G c.929G>C p.C310S Missense 7/59 - 2
7-151970874-A-T c.928T>A p.C310S Missense 7/59 - 1
7-151970876-G-A c.926C>T p.P309L Missense 7/59 - 4
7-151970876-G-C c.926C>G p.P309R Missense 7/59 - 2
7-151970877-G-A c.925C>T p.P309S Missense 7/59 - 11
7-151970879-T-A c.923A>T p.Y308F Missense 7/59 - 1
7-151970883-G-T c.919C>A p.H307N Missense 7/59 - 1
7-151970884-A-C c.918T>G p.Y306* Nonsense 7/59 - 6
7-151970884-A-T c.918T>A p.Y306* Nonsense 7/59 - 4
7-151970890-C-G c.912G>C p.Q304H Missense 7/59 - 1
7-151970896-A-T c.906T>A p.C302* Nonsense 7/59 - 1
7-151970898-A-G c.904T>C p.C302R Missense 7/59 - 1
7-151970902-C-A c.900G>T p.E300D Missense 7/59 - 1
7-151970919-T-C c.883A>G p.I295V Missense 7/59 - 1
7-151970924-G-A c.878C>T p.A293V Missense 7/59 - 2
7-151970927-C-A c.875G>T p.G292V Missense 7/59 - 1
7-151970927-C-T c.875G>A p.G292E Missense 7/59 - 1
7-151970931-G-A c.871C>T p.L291F Missense 7/59 - 6
7-151970945-G-A c.857C>T p.A286V Missense 7/59 - 1
7-151970945-G-T c.857C>A p.A286E Missense 7/59 - 2
7-151970947-ACATCG-TTAACAATGGTT c.850_855delinsAACCATTGTTAA p.R284_C285delinsNHC* MultiAAMissense 7/59 - 1
7-151970951-C-T c.851G>A p.R284Q Missense 7/59 - 9
7-151970952-G-A c.850C>T p.R284* Nonsense 7/59 - 2
7-151970959-G-A c.850-7C>T - IntronicSNV - 6/58 1
7-151970969-A-C c.850-17T>G - IntronicSNV - 6/58 1
7-151970977-C-A c.850-25G>T - IntronicSNV - 6/58 1
7-151970982-T-C c.850-30A>G - IntronicSNV - 6/58 1
7-151971006-C-G c.850-54G>C - IntronicSNV - 6/58 1
7-151971006-C-T c.850-54G>A - IntronicSNV - 6/58 1
7-151971011-A-G c.850-59T>C - IntronicSNV - 6/58 1
7-151971015-G-A c.850-63C>T - IntronicSNV - 6/58 1
7-151971023-G-A c.850-71C>T - IntronicSNV - 6/58 1
7-151971043-T-A c.850-91A>T - IntronicSNV - 6/58 2
7-151971043-T-C c.850-91A>G - IntronicSNV - 6/58 2
7-151971379-C-T c.850-427G>A - IntronicSNV - 6/58 1
7-152007061-C-T c.839G>A p.G280E Missense 6/59 - 1
7-152007078-TG-T c.822del p.D274Efs*81 Frameshift 6/59 - 1
7-152007083-AC-A c.817del p.V273Wfs*82 Frameshift 6/59 - 1
7-152007083-C-T c.817G>A p.V273M Missense 6/59 - 1
7-152007084-G-C c.816C>G p.N272K Missense 6/59 - 1
7-152007104-C-T c.796G>A p.E266K Missense 6/59 - 1
7-152007119-C-A c.781G>T p.G261* Nonsense 6/59 - 1
7-152007126-C-T c.774G>A p.W258* Nonsense 6/59 - 1
7-152007136-C-A c.764G>T p.C255F Missense 6/59 - 1
7-152007140-G-T c.760C>A p.R254S Missense 6/59 - 1
7-152007146-G-T c.754C>A p.H252N Missense 6/59 - 1
7-152008883-C-G c.739G>C p.G247R Missense 5/59 - 1
7-152008897-A-C c.725T>G p.L242* Nonsense 5/59 - 1
7-152008897-A-T c.725T>A p.L242* Nonsense 5/59 - 1
7-152008904-G-A c.718C>T p.Q240* Nonsense 5/59 - 1
7-152008912-A-T c.710T>A p.I237N Missense 5/59 - 1
7-152008913-T-C c.709A>G p.I237V Missense 5/59 - 1
7-152008922-G-A c.700C>T p.P234S Missense 5/59 - 1
7-152008927-C-T c.695G>A p.G232E Missense 5/59 - 1
7-152008940-G-GA c.681_682insT p.L228Sfs*11 Frameshift 5/59 - 1
7-152008943-C-T c.679G>A p.E227K Missense 5/59 - 1
7-152008943-TCATCCCACAG-T c.670_679del p.L224Nfs*34 Frameshift 5/59 - 1
7-152008947-C-T c.675G>A p.W225* Nonsense 5/59 - 1
7-152008961-C-T c.661G>A p.A221T Missense 5/59 - 1
7-152008964-G-A c.658C>T p.Q220* Nonsense 5/59 - 1
7-152008976-C-A c.646G>T p.A216S Missense 5/59 - 1
7-152008982-G-A c.640C>T p.Q214* Nonsense 5/59 - 1
7-152008984-G-A c.638C>T p.T213I Missense 5/59 - 2
7-152008995-TTA-T c.626_627del p.V209Efs*10 Frameshift 5/59 - 1
7-152008996-A-T c.626T>A p.V209E Missense 5/59 - 1
7-152009004-T-TA c.617dup p.S207Ifs*13 Frameshift 5/59 - 1
7-152009015-G-A c.607C>T p.Q203* Nonsense 5/59 - 1
7-152009018-G-A c.604C>T p.Q202* Nonsense 5/59 - 1
7-152009023-G-A c.599C>T p.S200F Missense 5/59 - 1
7-152009025-T-TGGGA c.596_597insTCCC p.S200Pfs*21 Frameshift 5/59 - 1
7-152009027-G-A c.595C>T p.R199* Nonsense 5/59 - 3
7-152009647-T-C c.591-616A>G - IntronicSNV - 4/58 1
7-152012222-C-G c.590+1G>C - IntronicSNV - 4/58 1
7-152012227-T-A c.586A>T p.R196* Nonsense 4/59 - 1
7-152012230-G-A c.583C>T p.Q195* Nonsense 4/59 - 1
7-152012232-C-A c.581G>T p.G194V Missense 4/59 - 1
7-152012241-T-C c.572A>G p.K191R Missense 4/59 - 1
7-152012239-GTT-G c.572_573del p.K191Tfs*28 Frameshift 4/59 - 1
7-152012244-C-T c.569G>A p.R190Q Missense 4/59 - 2
7-152012245-G-A c.568C>T p.R190* Nonsense 4/59 - 3
7-152012253-G-A c.560C>T p.S187L Missense 4/59 - 1
7-152012253-G-C c.560C>G p.S187* Nonsense 4/59 - 1
7-152012253-G-T c.560C>A p.S187* Nonsense 4/59 - 1
7-152012256-T-C c.557A>G p.N186S Missense 4/59 - 1
7-152012276-TCC-GCT c.535_537delinsAGC p.G179S Missense 4/59 - 1
7-152012277-C-T c.536G>A p.G179E Missense 4/59 - 1
7-152012278-C-T c.535G>A p.G179R Missense 4/59 - 1
7-152012283-C-T c.530G>A p.S177N Missense 4/59 - 1
7-152012304-T-C c.509A>G p.K170R Missense 4/59 - 1
7-152012306-G-C c.507C>G p.N169K Missense 4/59 - 1
7-152012306-G-T c.507C>A p.N169K Missense 4/59 - 1
7-152012315-T-C c.498A>G p.Q166= Synonymous 4/59 - 1
7-152012322-CT-TG c.490_491delinsCA p.R164Q Missense 4/59 - 1
7-152012326-A-G c.487T>C p.W163R Missense 4/59 - 1
7-152012333-GAT-CTC c.478_480delinsGAG p.I160E Missense 4/59 - 1
7-152012335-T-C c.478A>G p.I160V Missense 4/59 - 1
7-152012339-TCC-GCT c.472_474delinsAGC p.G158S Missense 4/59 - 1
7-152012341-CAGGCGTTATTCTGAATTGTTTTA-C c.449_471del p.L150Wfs*12 Frameshift 4/59 - 1
7-152012348-T-TA c.464dup p.T156Nfs*14 Frameshift 4/59 - 1
7-152012349-A-G c.464T>C p.I155T Missense 4/59 - 1
7-152012357-T-A c.456A>T p.Q152H Missense 4/59 - 1
7-152012357-T-G c.456A>C p.Q152H Missense 4/59 - 1
7-152012366-G-C c.447C>G p.D149E Missense 4/59 - 1
7-152012366-G-T c.447C>A p.D149E Missense 4/59 - 1
7-152012371-C-G c.442G>C p.G148R Missense 4/59 - 1
7-152012371-C-T c.442G>A p.G148R Missense 4/59 - 1
7-152012374-G-A c.439C>T p.Q147* Nonsense 4/59 - 1
7-152012377-C-A c.436G>T p.G146* Nonsense 4/59 - 1
7-152012377-C-T c.436G>A p.G146R Missense 4/59 - 1
7-152012382-G-T c.431C>A p.S144Y Missense 4/59 - 1
7-152012385-C-CT c.427dup p.S143Kfs*27 Frameshift 4/59 - 2
7-152012391-T-C c.422A>G p.E141G Missense 4/59 - 1
7-152012394-C-A c.419G>T p.G140V Missense 4/59 - 1
7-152012409-G-A c.404C>T p.A135V Missense 4/59 - 2
7-152012410-C-T c.403G>A p.A135T Missense 4/59 - 2
7-152012415-A-G c.398T>C p.L133P Missense 4/59 - 1
7-152012415-AG-GC c.397_398delinsGC p.L133A Missense 4/59 - 1
7-152027699-C-A c.376G>T p.E126* Nonsense 3/59 - 1
7-152027699-C-G c.376G>C p.E126Q Missense 3/59 - 1
7-152027735-C-A c.340G>T p.E114* Nonsense 3/59 - 1
7-152027737-G-A c.338C>T p.S113F Missense 3/59 - 1
7-152027743-G-A c.332C>T p.S111F Missense 3/59 - 1
7-152027744-A-G c.331T>C p.S111P Missense 3/59 - 1
7-152027747-G-A c.328C>T p.R110* Nonsense 3/59 - 1
7-152027750-G-A c.325C>T p.Q109* Nonsense 3/59 - 2
7-152027755-G-C c.320C>G p.T107S Missense 3/59 - 1
7-152027756-T-A c.319A>T p.T107S Missense 3/59 - 1
7-152027758-G-A c.317C>T p.P106L Missense 3/59 - 1
7-152027759-G-C c.316C>G p.P106A Missense 3/59 - 1
7-152027768-G-A c.307C>T p.Q103* Nonsense 3/59 - 1
7-152027779-TC-CA c.295_296delinsTG p.D99C Missense 3/59 - 1
7-152027787-TGC-AAA c.286_288delinsTTT p.A96F Missense 3/59 - 1
7-152027795-C-G c.280G>C p.A94P Missense 3/59 - 1
7-152027805-T-A c.270A>T p.A90= Synonymous 3/59 - 1
7-152027805-T-C c.270A>G p.A90= Synonymous 3/59 - 1
7-152027805-T-G c.270A>C p.A90= Synonymous 3/59 - 1
7-152027813-G-A c.262C>T p.Q88* Nonsense 3/59 - 1
7-152027820-G-T c.255C>A p.I85= Synonymous 3/59 - 1
7-152033193-G-C c.251-5369C>G - IntronicSNV - 2/58 1
7-152033193-G-T c.251-5369C>A - IntronicSNV - 2/58 1
7-152036934-T-C c.251-9110A>G - IntronicSNV - 2/58 1
7-152039579-C-A c.251-11755G>T - IntronicSNV - 2/58 1
7-152039579-C-G c.251-11755G>C - IntronicSNV - 2/58 1
7-152045868-T-C c.250+9804A>G - IntronicSNV - 2/58 1
7-152050571-C-T c.250+5101G>A - IntronicSNV - 2/58 1
7-152051190-T-C c.250+4482A>G - IntronicSNV - 2/58 2
7-152055669-T-C c.250+3A>G - IntronicSNV - 2/58 1
7-152055672-C-A c.250G>T p.E84* Nonsense 2/59 - 1
7-152055677-T-A c.245A>T p.E82V Missense 2/59 - 1
7-152055684-ATC-A c.237_238del p.I80Cfs*15 Frameshift 2/59 - 1
7-152055684-T-A c.238A>T p.I80F Missense 2/59 - 1
7-152055686-G-A c.236C>T p.T79M Missense 2/59 - 1
7-152055688-TTC-T c.232_233del p.E78Nfs*17 Frameshift 2/59 - 2
7-152055685-CGTTTCT-C c.231_236del p.E78_T79del InFrameDeletion 2/59 - 1
7-152055696-C-G c.226G>C p.E76Q Missense 2/59 - 1
7-152055696-C-T c.226G>A p.E76K Missense 2/59 - 1
7-152055704-T-C c.218A>G p.E73G Missense 2/59 - 1
7-152055717-T-A c.205A>T p.M69L Missense 2/59 - 2
7-152055717-T-G c.205A>C p.M69L Missense 2/59 - 1
7-152055724-CTC-ACA c.196_198delinsTGT p.E66C Missense 2/59 - 1
7-152055726-C-A c.196G>T p.E66* Nonsense 2/59 - 1
7-152055733-CAC-GTT c.187_189delinsAAC p.V63N Missense 2/59 - 1
7-152055734-A-T c.188T>A p.V63E Missense 2/59 - 1
7-152055736-T-A c.186A>T p.A62= Synonymous 2/59 - 1
7-152055736-T-C c.186A>G p.A62= Synonymous 2/59 - 1
7-152055736-T-G c.186A>C p.A62= Synonymous 2/59 - 1
7-152055750-T-A c.172A>T p.R58W Missense 2/59 - 1
7-152055751-ACTT-A c.168_170del p.S57del InFrameDeletion 2/59 - 1
7-152055755-C-T c.167G>A p.R56Q Missense 2/59 - 4
7-152055756-G-A c.166C>T p.R56* Nonsense 2/59 - 2
7-152064259-G-A c.162-8499C>T - IntronicSNV - 1/58 1
7-152086858-T-C c.162-31098A>G - IntronicSNV - 1/58 1
7-152086858-T-G c.162-31098A>C - IntronicSNV - 1/58 1
7-152094629-T-C c.161+38082A>G - IntronicSNV - 1/58 1
7-152100221-AC-A c.161+32490del - IntronicDeletion - 1/58 1
7-152103149-G-A c.161+29562C>T - IntronicSNV - 1/58 1
7-152104360-A-G c.161+28351T>C - IntronicSNV - 1/58 1
7-152104776-C-G c.161+27935G>C - IntronicSNV - 1/58 1
7-152109169-C-T c.161+23542G>A - IntronicSNV - 1/58 1
7-152113550-C-G c.161+19161G>C - IntronicSNV - 1/58 1
7-152113550-C-T c.161+19161G>A - IntronicSNV - 1/58 1
7-152132658-C-A c.161+53G>T - IntronicSNV - 1/58 1
7-152132713-C-A c.159G>T p.K53N Missense 1/59 - 1
7-152132720-G-T c.152C>A p.A51D Missense 1/59 - 1
7-152132735-G-A c.137C>T p.S46F Missense 1/59 - 1
7-152132736-A-G c.136T>C p.S46P Missense 1/59 - 1
7-152132738-G-A c.134C>T p.A45V Missense 1/59 - 1
7-152132745-C-A c.127G>T p.D43Y Missense 1/59 - 1
7-152132749-GCG-TCA c.121_123delinsTGA p.R41* Nonsense 1/59 - 1
7-152132751-G-A c.121C>T p.R41C Missense 1/59 - 1
7-152132751-G-C c.121C>G p.R41G Missense 1/59 - 1
7-152132751-G-T c.121C>A p.R41S Missense 1/59 - 1
7-152132756-C-G c.116G>C p.R39P Missense 1/59 - 1
7-152132757-G-A c.115C>T p.R39W Missense 1/59 - 1
7-152132759-C-CA c.112_113insT p.G38Vfs*21 Frameshift 1/59 - 1
7-152132778-C-A c.94G>T p.A32S Missense 1/59 - 1
7-152132782-T-G c.90A>C p.A30= Synonymous 1/59 - 1
7-152132783-G-A c.89C>T p.A30V Missense 1/59 - 1
7-152132783-G-T c.89C>A p.A30E Missense 1/59 - 1
7-152132785-G-C c.87C>G p.P29= Synonymous 1/59 - 1
7-152132789-CT-GG c.82_83delinsCC p.S28P Missense 1/59 - 1
7-152132792-G-A c.80C>T p.P27L Missense 1/59 - 1
7-152132792-G-T c.80C>A p.P27Q Missense 1/59 - 1
7-152132793-G-A c.79C>T p.P27S Missense 1/59 - 1
7-152132794-GGC-TTA c.76_78delinsTAA p.A26* Nonsense 1/59 - 2
7-152132801-G-A c.71C>T p.A24V Missense 1/59 - 3
7-152132801-GC-AA c.70_71delinsTT p.A24F Missense 1/59 - 1
7-152132801-GC-CA c.70_71delinsTG p.A24C Missense 1/59 - 1
7-152132801-GC-TT c.70_71delinsAA p.A24N Missense 1/59 - 1
7-152132801-G-T c.71C>A p.A24D Missense 1/59 - 1
7-152132802-C-A c.70G>T p.A24S Missense 1/59 - 1
7-152132805-C-T c.67G>A p.G23R Missense 1/59 - 1
7-152132812-C-A c.60G>T p.E20D Missense 1/59 - 1
7-152132812-C-G c.60G>C p.E20D Missense 1/59 - 1
7-152132814-C-A c.58G>T p.E20* Nonsense 1/59 - 1
7-152132820-G-A c.52C>T p.P18S Missense 1/59 - 1
7-152132823-G-C c.49C>G p.P17A Missense 1/59 - 1
7-152132825-G-T c.47C>A p.P16Q Missense 1/59 - 1
7-152132841-G-A c.31C>T p.Q11* Nonsense 1/59 - 1
7-152132846-A-G c.26T>C p.V9A Missense 1/59 - 1
7-152132862-C-A c.10G>T p.E4* Nonsense 1/59 - 1
7-152132863-C-A c.9G>T p.S3= Synonymous 1/59 - 1
7-152132863-C-G c.9G>C p.S3= Synonymous 1/59 - 1
7-152132863-C-T c.9G>A p.S3= Synonymous 1/59 - 1
7-152132866-C-A c.6G>T p.S2= Synonymous 1/59 - 1
7-152132866-C-G c.6G>C p.S2= Synonymous 1/59 - 1
7-152132866-C-T c.6G>A p.S2= Synonymous 1/59 - 1
7-152132867-G-A c.5C>T p.S2L Missense 1/59 - 2
7-152132867-G-T c.5C>A p.S2* Nonsense 1/59 - 1