MDN1

MDN1 midasin AAA ATPase 1

Annotation transcript: NM_014611.3

4560 unique variant annotations were identified in 838 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
6-90352862-G-A c.*862C>T - IntergenicSNV 102/102 - 1
6-90352939-G-A c.*785C>T - IntergenicSNV 102/102 - 1
6-90353729-G-A c.16786C>T p.P5596S Missense 102/102 - 2
6-90353740-G-T c.16775C>A p.A5592D Missense 102/102 - 1
6-90353762-G-A c.16753C>T p.Q5585* Nonsense 102/102 - 2
6-90353767-A-C c.16748T>G p.L5583R Missense 102/102 - 2
6-90353775-G-A c.16740C>T p.S5580= Synonymous 102/102 - 1
6-90353781-T-A c.16734A>T p.T5578= Synonymous 102/102 - 1
6-90353781-T-C c.16734A>G p.T5578= Synonymous 102/102 - 1
6-90353781-T-G c.16734A>C p.T5578= Synonymous 102/102 - 1
6-90353794-G-A c.16721C>T p.A5574V Missense 102/102 - 1
6-90353795-C-A c.16720G>T p.A5574S Missense 102/102 - 1
6-90353795-C-T c.16720G>A p.A5574T Missense 102/102 - 2
6-90353798-T-G c.16717A>C p.N5573H Missense 102/102 - 1
6-90353806-C-A c.16709G>T p.R5570L Missense 102/102 - 1
6-90353807-G-A c.16708C>T p.R5570* Nonsense 102/102 - 5
6-90353815-A-G c.16700T>C p.I5567T Missense 102/102 - 1
6-90353818-T-C c.16697A>G p.Y5566C Missense 102/102 - 2
6-90353820-G-C c.16695C>G p.Y5565* Nonsense 102/102 - 3
6-90353820-G-T c.16695C>A p.Y5565* Nonsense 102/102 - 2
6-90353822-A-G c.16693T>C p.Y5565H Missense 102/102 - 2
6-90353826-G-C c.16689C>G p.F5563L Missense 102/102 - 1
6-90353826-G-T c.16689C>A p.F5563L Missense 102/102 - 1
6-90353828-A-G c.16687T>C p.F5563L Missense 102/102 - 1
6-90353839-T-C c.16676A>G p.E5559G Missense 102/102 - 1
6-90353840-C-T c.16675G>A p.E5559K Missense 102/102 - 1
6-90353857-T-C c.16658A>G p.E5553G Missense 102/102 - 1
6-90353860-G-C c.16655C>G p.P5552R Missense 102/102 - 1
6-90353866-T-C c.16649A>G p.E5550G Missense 102/102 - 1
6-90353875-C-T c.16640G>A p.G5547E Missense 102/102 - 2
6-90353879-T-TA c.16635dup p.K5546* Nonsense 102/102 - 1
6-90353885-T-C c.16630A>G p.I5544V Missense 102/102 - 1
6-90353886-C-T c.16629G>A p.P5543= Synonymous 102/102 - 1
6-90353890-A-C c.16625T>G p.V5542G Missense 102/102 - 4
6-90353891-C-T c.16624G>A p.V5542I Missense 102/102 - 1
6-90353896-A-T c.16619T>A p.I5540N Missense 102/102 - 1
6-90353899-T-C c.16616A>G p.D5539G Missense 102/102 - 7
6-90354736-G-A c.16600C>T p.R5534W Missense 101/102 - 2
6-90354746-A-G c.16590T>C p.N5530= Synonymous 101/102 - 1
6-90354751-C-G c.16585G>C p.D5529H Missense 101/102 - 1
6-90354754-A-G c.16582T>C p.L5528= Synonymous 101/102 - 1
6-90354758-A-C c.16578T>G p.V5526= Synonymous 101/102 - 1
6-90354761-A-G c.16575T>C p.F5525= Synonymous 101/102 - 2
6-90354764-G-A c.16572C>T p.I5524= Synonymous 101/102 - 1
6-90354764-G-T c.16572C>A p.I5524= Synonymous 101/102 - 2
6-90354778-T-C c.16558A>G p.N5520D Missense 101/102 - 1
6-90354786-C-T c.16550G>A p.R5517Q Missense 101/102 - 3
6-90354787-G-A c.16549C>T p.R5517W Missense 101/102 - 1
6-90354787-G-C c.16549C>G p.R5517G Missense 101/102 - 1
6-90354789-G-A c.16547C>T p.A5516V Missense 101/102 - 8
6-90354798-A-T c.16538T>A p.V5513D Missense 101/102 - 1
6-90354804-G-A c.16532C>T p.A5511V Missense 101/102 - 4
6-90354822-C-G c.16514G>C p.G5505A Missense 101/102 - 1
6-90354824-C-A c.16512G>T p.E5504D Missense 101/102 - 1
6-90354824-C-G c.16512G>C p.E5504D Missense 101/102 - 1
6-90354828-A-G c.16508T>C p.L5503P Missense 101/102 - 1
6-90354840-C-T c.16496G>A p.R5499Q Missense 101/102 - 6
6-90354841-G-A c.16495C>T p.R5499* Nonsense 101/102 - 2
6-90354847-C-T c.16489G>A p.D5497N Missense 101/102 - 1
6-90354871-C-A c.16465G>T p.A5489S Missense 101/102 - 1
6-90356147-G-A c.16459+112C>T - IntronicSNV - 100/101 1
6-90356241-G-A c.16459+18C>T - IntronicSNV - 100/101 1
6-90356252-A-G c.16459+7T>C - IntronicSNV - 100/101 1
6-90356275-C-A c.16443G>T p.S5481= Synonymous 100/102 - 1
6-90356275-C-G c.16443G>C p.S5481= Synonymous 100/102 - 1
6-90356275-C-T c.16443G>A p.S5481= Synonymous 100/102 - 1
6-90356276-G-A c.16442C>T p.S5481L Missense 100/102 - 1
6-90356284-C-A c.16434G>T p.Q5478H Missense 100/102 - 1
6-90356284-C-G c.16434G>C p.Q5478H Missense 100/102 - 1
6-90356294-G-A c.16424C>T p.A5475V Missense 100/102 - 1
6-90356307-C-A c.16411G>T p.A5471S Missense 100/102 - 2
6-90357663-GTCCTGTCTCAAAAATAAAA-G c.16395+70_16395+88del - IntronicDeletion - 99/101 1
6-90357769-C-T c.16377G>A p.K5459= Synonymous 99/102 - 1
6-90357778-G-A c.16368C>T p.F5456= Synonymous 99/102 - 1
6-90357792-G-A c.16354C>T p.R5452C Missense 99/102 - 1
6-90357795-G-C c.16351C>G p.L5451V Missense 99/102 - 1
6-90357812-T-G c.16334A>C p.Y5445S Missense 99/102 - 1
6-90357820-G-C c.16326C>G p.F5442L Missense 99/102 - 1
6-90357827-T-G c.16319A>C p.E5440A Missense 99/102 - 1
6-90357836-G-A c.16310C>T p.P5437L Missense 99/102 - 2
6-90357839-T-G c.16307A>C p.H5436P Missense 99/102 - 3
6-90357843-A-T c.16303T>A p.L5435I Missense 99/102 - 1
6-90357851-A-G c.16295T>C p.V5432A Missense 99/102 - 1
6-90357990-T-A c.16265A>T p.Q5422L Missense 98/102 - 1
6-90357996-A-G c.16259T>C p.V5420A Missense 98/102 - 1
6-90358034-A-C c.16221T>G p.S5407= Synonymous 98/102 - 2
6-90358034-A-G c.16221T>C p.S5407= Synonymous 98/102 - 3
6-90358034-A-T c.16221T>A p.S5407= Synonymous 98/102 - 2
6-90358035-G-C c.16220C>G p.S5407C Missense 98/102 - 3
6-90358040-A-C c.16215T>G p.F5405L Missense 98/102 - 3
6-90358040-A-T c.16215T>A p.F5405L Missense 98/102 - 2
6-90358042-A-G c.16213T>C p.F5405L Missense 98/102 - 3
6-90358048-G-T c.16207C>A p.L5403I Missense 98/102 - 1
6-90359347-A-T c.16206+396T>A - IntronicSNV - 97/101 1
6-90359556-T-A c.16206+187A>T - IntronicSNV - 97/101 1
6-90359756-T-G c.16193A>C p.N5398T Missense 97/102 - 1
6-90359764-C-T c.16185G>A p.M5395I Missense 97/102 - 1
6-90359766-T-A c.16183A>T p.M5395L Missense 97/102 - 2
6-90359766-T-G c.16183A>C p.M5395L Missense 97/102 - 1
6-90359771-G-T c.16178C>A p.S5393Y Missense 97/102 - 1
6-90359774-G-A c.16175C>T p.S5392F Missense 97/102 - 2
6-90359778-C-T c.16171G>A p.D5391N Missense 97/102 - 1
6-90359782-G-A c.16167C>T p.I5389= Synonymous 97/102 - 1
6-90359782-G-C c.16167C>G p.I5389M Missense 97/102 - 1
6-90359786-G-T c.16163C>A p.A5388D Missense 97/102 - 1
6-90359799-G-A c.16150C>T p.Q5384* Nonsense 97/102 - 1
6-90359802-A-G c.16147T>C p.Y5383H Missense 97/102 - 2
6-90359807-C-T c.16142G>A p.R5381H Missense 97/102 - 2
6-90359808-G-A c.16141C>T p.R5381C Missense 97/102 - 5
6-90359817-G-C c.16132C>G p.P5378A Missense 97/102 - 1
6-90359828-C-T c.16121G>A p.R5374Q Missense 97/102 - 1
6-90359829-G-A c.16120C>T p.R5374* Nonsense 97/102 - 7
6-90359834-C-A c.16115G>T p.W5372L Missense 97/102 - 1
6-90359844-C-G c.16105G>C p.D5369H Missense 97/102 - 1
6-90359848-C-T c.16101G>A p.R5367= Synonymous 97/102 - 3
6-90359850-G-A c.16099C>T p.R5367W Missense 97/102 - 3
6-90359871-G-C c.16078C>G p.P5360A Missense 97/102 - 1
6-90359873-A-ACATAGCT c.16075_16076insAGCTATG p.I5359Kfs*8 Frameshift 97/102 - 1
6-90359883-G-A c.16066C>T p.R5356W Missense 97/102 - 1
6-90359894-C-A c.16055G>T p.R5352L Missense 97/102 - 1
6-90359894-C-T c.16055G>A p.R5352Q Missense 97/102 - 2
6-90359895-G-A c.16054C>T p.R5352* Nonsense 97/102 - 4
6-90359906-C-T c.16043G>A p.R5348Q Missense 97/102 - 3
6-90359907-G-A c.16042C>T p.R5348* Nonsense 97/102 - 3
6-90359910-A-G c.16039T>C p.Y5347H Missense 97/102 - 1
6-90359913-C-G c.16036G>C p.D5346H Missense 97/102 - 1
6-90360103-C-G c.16032-186G>C - IntronicSNV - 96/101 2
6-90360103-C-T c.16032-186G>A - IntronicSNV - 96/101 2
6-90360346-G-A c.16031+105C>T - IntronicSNV - 96/101 3
6-90360406-C-T c.16031+45G>A - IntronicSNV - 96/101 4
6-90360453-C-A c.16029G>T p.L5343= Synonymous 96/102 - 1
6-90360453-C-G c.16029G>C p.L5343= Synonymous 96/102 - 1
6-90360453-C-T c.16029G>A p.L5343= Synonymous 96/102 - 1
6-90360455-G-A c.16027C>T p.L5343= Synonymous 96/102 - 2
6-90360459-G-T c.16023C>A p.A5341= Synonymous 96/102 - 1
6-90360464-C-T c.16018G>A p.A5340T Missense 96/102 - 3
6-90360467-G-A c.16015C>T p.Q5339* Nonsense 96/102 - 2
6-90360472-G-C c.16010C>G p.P5337R Missense 96/102 - 1
6-90360476-C-G c.16006G>C p.E5336Q Missense 96/102 - 2
6-90360497-C-T c.15985G>A p.E5329K Missense 96/102 - 1
6-90360505-C-G c.15977G>C p.R5326P Missense 96/102 - 2
6-90360505-C-T c.15977G>A p.R5326Q Missense 96/102 - 1
6-90360506-G-A c.15976C>T p.R5326W Missense 96/102 - 2
6-90360511-G-A c.15971C>T p.S5324L Missense 96/102 - 4
6-90360515-G-C c.15967C>G p.L5323V Missense 96/102 - 1
6-90360519-C-T c.15963G>A p.A5321= Synonymous 96/102 - 1
6-90360520-G-A c.15962C>T p.A5321V Missense 96/102 - 6
6-90360525-T-A c.15957A>T p.L5319F Missense 96/102 - 1
6-90360525-T-G c.15957A>C p.L5319F Missense 96/102 - 4
6-90360540-C-A c.15942G>T p.Q5314H Missense 96/102 - 2
6-90360540-C-G c.15942G>C p.Q5314H Missense 96/102 - 1
6-90360541-T-A c.15941A>T p.Q5314L Missense 96/102 - 1
6-90360546-C-A c.15936G>T p.M5312I Missense 96/102 - 1
6-90360546-C-G c.15936G>C p.M5312I Missense 96/102 - 1
6-90360546-C-T c.15936G>A p.M5312I Missense 96/102 - 1
6-90360557-C-A c.15925G>T p.A5309S Missense 96/102 - 1
6-90360559-A-G c.15923T>C p.V5308A Missense 96/102 - 2
6-90360757-A-G c.15916-191T>C - IntronicSNV - 95/101 4
6-90361623-G-A c.15915+288C>T - IntronicSNV - 95/101 1
6-90361649-TA-T c.15915+261del - IntronicDeletion - 95/101 1
6-90361811-G-A c.15915+100C>T - IntronicSNV - 95/101 4
6-90361811-G-C c.15915+100C>G - IntronicSNV - 95/101 3
6-90361833-T-A c.15915+78A>T - IntronicSNV - 95/101 1
6-90361911-C-T c.15915G>A p.E5305= Synonymous 95/102 - 2
6-90361916-C-T c.15910G>A p.E5304K Missense 95/102 - 1
6-90361926-A-C c.15900T>G p.S5300= Synonymous 95/102 - 1
6-90361926-A-G c.15900T>C p.S5300= Synonymous 95/102 - 1
6-90361926-A-T c.15900T>A p.S5300= Synonymous 95/102 - 1
6-90361933-C-T c.15893G>A p.R5298H Missense 95/102 - 2
6-90361934-G-A c.15892C>T p.R5298C Missense 95/102 - 1
6-90361937-G-C c.15889C>G p.P5297A Missense 95/102 - 1
6-90361967-C-T c.15859G>A p.E5287K Missense 95/102 - 4
6-90361969-T-A c.15857A>T p.Q5286L Missense 95/102 - 1
6-90361981-T-A c.15845A>T p.N5282I Missense 95/102 - 1
6-90361981-T-TGATTTTTCTGCCAACTA c.15844_15845insTAGTTGGCAGAAAAATC p.N5282Ifs*9 Frameshift 95/102 - 1
6-90361982-T-A c.15844A>T p.N5282Y Missense 95/102 - 1
6-90361988-C-A c.15838G>T p.D5280Y Missense 95/102 - 3
6-90361992-T-TA c.15833dup p.L5278Ffs*6 Frameshift 95/102 - 2
6-90361999-G-C c.15827C>G p.P5276R Missense 95/102 - 1
6-90362090-T-G c.15826-90A>C - IntronicSNV - 94/101 3
6-90362717-G-A c.15819C>T p.I5273= Synonymous 94/102 - 1
6-90362717-G-T c.15819C>A p.I5273= Synonymous 94/102 - 1
6-90362719-AT-A c.15817del p.I5273Sfs*6 Frameshift 94/102 - 1
6-90362720-C-T c.15816G>A p.T5272= Synonymous 94/102 - 2
6-90362720-TC-T c.15816del p.I5273Sfs*6 Frameshift 94/102 - 1
6-90362721-G-A c.15815C>T p.T5272M Missense 94/102 - 1
6-90362722-T-C c.15814A>G p.T5272A Missense 94/102 - 3
6-90362727-A-G c.15809T>C p.M5270T Missense 94/102 - 1
6-90362731-G-A c.15805C>T p.L5269F Missense 94/102 - 1
6-90362731-G-C c.15805C>G p.L5269V Missense 94/102 - 1
6-90362739-T-G c.15797A>C p.H5266P Missense 94/102 - 3
6-90362757-G-A c.15779C>T p.S5260F Missense 94/102 - 2
6-90362757-G-C c.15779C>G p.S5260C Missense 94/102 - 2
6-90362764-G-A c.15772C>T p.R5258* Nonsense 94/102 - 1
6-90362771-T-A c.15765A>T p.E5255D Missense 94/102 - 1
6-90362771-T-G c.15765A>C p.E5255D Missense 94/102 - 1
6-90362780-C-G c.15756G>C p.E5252D Missense 94/102 - 2
6-90362781-T-C c.15755A>G p.E5252G Missense 94/102 - 1
6-90362783-A-C c.15753T>G p.N5251K Missense 94/102 - 17
6-90362783-A-T c.15753T>A p.N5251K Missense 94/102 - 5
6-90362784-T-C c.15752A>G p.N5251S Missense 94/102 - 1
6-90362796-T-G c.15740A>C p.K5247T Missense 94/102 - 1
6-90362818-G-A c.15718C>T p.P5240S Missense 94/102 - 2
6-90362819-G-C c.15717C>G p.D5239E Missense 94/102 - 2
6-90362819-G-T c.15717C>A p.D5239E Missense 94/102 - 2
6-90362821-C-A c.15715G>T p.D5239Y Missense 94/102 - 1
6-90362832-T-G c.15704A>C p.E5235A Missense 94/102 - 1
6-90362834-T-C c.15702A>G p.T5234= Synonymous 94/102 - 1
6-90362835-G-T c.15701C>A p.T5234K Missense 94/102 - 1
6-90362861-C-A c.15675G>T p.M5225I Missense 94/102 - 1
6-90362861-C-G c.15675G>C p.M5225I Missense 94/102 - 1
6-90362861-C-T c.15675G>A p.M5225I Missense 94/102 - 1
6-90362867-A-C c.15669T>G p.D5223E Missense 94/102 - 1
6-90362867-A-T c.15669T>A p.D5223E Missense 94/102 - 1
6-90362869-CA-C c.15666del p.F5222Lfs*57 Frameshift 94/102 - 1
6-90362870-A-C c.15666T>G p.F5222L Missense 94/102 - 1
6-90362870-A-T c.15666T>A p.F5222L Missense 94/102 - 1
6-90362872-A-AC c.15663_15664insG p.F5222Vfs*2 SpliceAcceptorInsertion 94/102 - 1
6-90362872-A-AT c.15663_15664insA p.F5222Ifs*2 SpliceAcceptorInsertion 94/102 - 1
6-90362872-A-G c.15664T>C p.F5222L Missense 94/102 - 1
6-90362872-A-T c.15664T>A p.F5222I Missense 94/102 - 1
6-90362872-A-AG c.15663dup p.F5222Lfs*2 SpliceAcceptorInsertion 94/102 - 1
6-90362873-G-A c.15663C>T p.G5221= Synonymous 94/102 - 1
6-90362873-G-C c.15663C>G p.G5221= Synonymous 94/102 - 1
6-90362873-G-T c.15663C>A p.G5221= Synonymous 94/102 - 1
6-90363849-G-A c.15661+34C>T - IntronicSNV - 93/101 2
6-90363849-G-T c.15661+34C>A - IntronicSNV - 93/101 2
6-90363887-GGG-TTA c.15655_15657delinsTAA p.P5219* Nonsense 93/102 - 1
6-90363900-C-T c.15644G>A p.G5215D Missense 93/102 - 1
6-90363903-G-A c.15641C>T p.S5214L Missense 93/102 - 2
6-90363906-T-C c.15638A>G p.K5213R Missense 93/102 - 1
6-90363925-G-A c.15619C>T p.L5207= Synonymous 93/102 - 1
6-90363926-C-A c.15618G>T p.Q5206H Missense 93/102 - 1
6-90363929-C-T c.15615G>A p.E5205= Synonymous 93/102 - 1
6-90363931-C-T c.15613G>A p.E5205K Missense 93/102 - 1
6-90363935-G-A c.15609C>T p.D5203= Synonymous 93/102 - 1
6-90363947-G-A c.15597C>T p.F5199= Synonymous 93/102 - 1
6-90363952-C-A c.15592G>T p.E5198* Nonsense 93/102 - 1
6-90363955-C-T c.15589G>A p.E5197K Missense 93/102 - 1
6-90363957-T-C c.15587A>G p.Q5196R Missense 93/102 - 1
6-90363964-C-T c.15580G>A p.E5194K Missense 93/102 - 1
6-90363971-C-A c.15573G>T p.M5191I Missense 93/102 - 1
6-90363971-C-G c.15573G>C p.M5191I Missense 93/102 - 1
6-90363971-C-T c.15573G>A p.M5191I Missense 93/102 - 4
6-90363976-G-A c.15568C>T p.L5190F Missense 93/102 - 1
6-90363981-T-C c.15563A>G p.D5188G Missense 93/102 - 1
6-90364019-T-A c.15525A>T p.K5175N Missense 93/102 - 1
6-90364019-T-G c.15525A>C p.K5175N Missense 93/102 - 1
6-90364033-G-A c.15511C>T p.Q5171* Nonsense 93/102 - 1
6-90364244-C-A c.15491-191G>T - IntronicSNV - 92/101 2
6-90364244-C-G c.15491-191G>C - IntronicSNV - 92/101 2
6-90364824-AT-A c.15490+658del - IntronicDeletion - 92/101 1
6-90365349-T-C c.15490+134A>G - IntronicSNV - 92/101 2
6-90365479-G-A c.15490+4C>T - IntronicSNV - 92/101 1
6-90365504-C-T c.15469G>A p.A5157T Missense 92/102 - 3
6-90365505-G-A c.15468C>T p.D5156= Synonymous 92/102 - 1
6-90365507-C-A c.15466G>T p.D5156Y Missense 92/102 - 1
6-90365515-T-G c.15458A>C p.Q5153P Missense 92/102 - 1
6-90365516-G-A c.15457C>T p.Q5153* Nonsense 92/102 - 1
6-90365528-C-T c.15445G>A p.E5149K Missense 92/102 - 2
6-90365529-G-A c.15444C>T p.F5148= Synonymous 92/102 - 2
6-90365537-C-G c.15436G>C p.D5146H Missense 92/102 - 1
6-90365555-C-T c.15418G>A p.A5140T Missense 92/102 - 3
6-90365556-C-A c.15417G>T p.Q5139H Missense 92/102 - 1
6-90365556-C-G c.15417G>C p.Q5139H Missense 92/102 - 1
6-90365556-C-T c.15417G>A p.Q5139= Synonymous 92/102 - 1
6-90365561-G-A c.15412C>T p.P5138S Missense 92/102 - 1
6-90365562-C-T c.15411G>A p.Q5137= Synonymous 92/102 - 1
6-90365596-G-A c.15377C>T p.T5126M Missense 92/102 - 1
6-90365605-G-C c.15368C>G p.T5123S Missense 92/102 - 1
6-90365606-T-A c.15367A>T p.T5123S Missense 92/102 - 1
6-90365607-C-T c.15366G>A p.R5122= Synonymous 92/102 - 2
6-90365613-CCT-ATG c.15358_15360delinsCAT p.R5120H Missense 92/102 - 1
6-90365613-C-T c.15360G>A p.R5120= Synonymous 92/102 - 2
6-90365621-G-A c.15352C>T p.H5118Y Missense 92/102 - 2
6-90365624-C-A c.15349G>T p.V5117L Missense 92/102 - 1
6-90365624-C-G c.15349G>C p.V5117L Missense 92/102 - 2
6-90365626-C-T c.15347G>A p.R5116H Missense 92/102 - 1
6-90365627-G-A c.15346C>T p.R5116C Missense 92/102 - 5
6-90365641-C-G c.15332G>C p.G5111A Missense 92/102 - 1
6-90365644-A-T c.15329T>A p.M5110K Missense 92/102 - 4
6-90365646-G-A c.15327C>T p.S5109= Synonymous 92/102 - 3
6-90365651-G-A c.15322C>T p.R5108C Missense 92/102 - 2
6-90365656-T-C c.15317A>G p.N5106S Missense 92/102 - 1
6-90365664-C-A c.15309G>T p.Q5103H Missense 92/102 - 1
6-90365664-C-G c.15309G>C p.Q5103H Missense 92/102 - 1
6-90365671-G-A c.15302C>T p.P5101L Missense 92/102 - 1
6-90365677-C-T c.15296G>A p.R5099K Missense 92/102 - 3
6-90365683-A-C c.15290T>G p.F5097C Missense 92/102 - 1
6-90365685-A-C c.15288T>G p.S5096R Missense 92/102 - 1
6-90365853-C-T c.15286-166G>A - IntronicSNV - 91/101 1
6-90366080-TA-T c.15285+338del - IntronicDeletion - 91/101 1
6-90366236-G-A c.15285+183C>T - IntronicSNV - 91/101 1
6-90366307-A-C c.15285+112T>G - IntronicSNV - 91/101 1
6-90366307-A-T c.15285+112T>A - IntronicSNV - 91/101 1
6-90366329-C-CT c.15285+89dup - IntronicInsertion - 91/101 1
6-90366329-CT-C c.15285+89del - IntronicDeletion - 91/101 1
6-90366346-T-TTA c.15285+72_15285+73insTA - IntronicInsertion - 91/101 2
6-90366347-A-T c.15285+72T>A - IntronicSNV - 91/101 1
6-90366421-G-T c.15283C>A p.Q5095K Missense 91/102 - 1
6-90366427-T-TA c.15276_15277insT p.N5093* Nonsense 91/102 - 1
6-90366435-G-GGCAA c.15268_15269insTTGC p.T5090Ifs*10 Frameshift 91/102 - 1
6-90366450-G-A c.15254C>T p.A5085V Missense 91/102 - 1
6-90366455-C-T c.15249G>A p.Q5083= Synonymous 91/102 - 2
6-90366466-A-C c.15238T>G p.F5080V Missense 91/102 - 1
6-90366470-C-A c.15234G>T p.S5078= Synonymous 91/102 - 4
6-90366470-C-G c.15234G>C p.S5078= Synonymous 91/102 - 4
6-90366470-C-T c.15234G>A p.S5078= Synonymous 91/102 - 4
6-90366471-G-A c.15233C>T p.S5078L Missense 91/102 - 3
6-90366481-C-A c.15223G>T p.G5075C Missense 91/102 - 1
6-90366502-C-A c.15202G>T p.A5068S Missense 91/102 - 4
6-90366510-C-G c.15194G>C p.S5065T Missense 91/102 - 1
6-90366514-C-A c.15190G>T p.G5064* Nonsense 91/102 - 1
6-90366514-C-G c.15190G>C p.G5064R Missense 91/102 - 1
6-90366514-C-T c.15190G>A p.G5064R Missense 91/102 - 1
6-90367934-C-A c.15177G>T p.G5059= Synonymous 90/102 - 1
6-90367934-C-T c.15177G>A p.G5059= Synonymous 90/102 - 2
6-90367935-C-T c.15176G>A p.G5059E Missense 90/102 - 1
6-90367953-G-A c.15158C>T p.A5053V Missense 90/102 - 2
6-90367954-C-T c.15157G>A p.A5053T Missense 90/102 - 1
6-90367954-GC-G c.15157del p.A5053Hfs*69 Frameshift 90/102 - 1
6-90367959-C-T c.15152G>A p.G5051E Missense 90/102 - 1
6-90367974-G-A c.15137C>T p.A5046V Missense 90/102 - 1
6-90367985-C-A c.15126G>T p.Q5042H Missense 90/102 - 1
6-90367985-C-G c.15126G>C p.Q5042H Missense 90/102 - 1
6-90367985-C-T c.15126G>A p.Q5042= Synonymous 90/102 - 1
6-90367988-C-A c.15123G>T p.M5041I Missense 90/102 - 1
6-90367999-C-T c.15112G>A p.V5038M Missense 90/102 - 1
6-90368015-G-A c.15096C>T p.S5032= Synonymous 90/102 - 4
6-90368041-CCT-C c.15068_15069del p.E5023Gfs*32 Frameshift 90/102 - 1
6-90368044-C-CA c.15066_15067insT p.E5023* Nonsense 90/102 - 2
6-90368044-C-G c.15067G>C p.E5023Q Missense 90/102 - 3
6-90368050-C-T c.15061G>A p.V5021M Missense 90/102 - 1
6-90368066-A-C c.15045T>G p.S5015= Synonymous 90/102 - 1
6-90368066-A-G c.15045T>C p.S5015= Synonymous 90/102 - 1
6-90368066-A-T c.15045T>A p.S5015= Synonymous 90/102 - 1
6-90368068-A-ACCT c.15042_15043insAGG p.D5014_S5015insR InFrameInsertion 90/102 - 1
6-90368069-G-C c.15042C>G p.D5014E Missense 90/102 - 1
6-90368069-G-T c.15042C>A p.D5014E Missense 90/102 - 1
6-90368070-TCCTC-T c.15037_15040del p.E5013Tfs*108 Frameshift 90/102 - 1
6-90368074-C-T c.15037G>A p.E5013K Missense 90/102 - 2
6-90368076-C-T c.15035G>A p.R5012Q Missense 90/102 - 1
6-90368328-C-T c.15021+1G>A - IntronicSNV - 89/101 1
6-90368334-G-A c.15016C>T p.P5006S Missense 89/102 - 1
6-90368336-T-C c.15014A>G p.Q5005R Missense 89/102 - 1
6-90368337-G-A c.15013C>T p.Q5005* Nonsense 89/102 - 4
6-90368337-G-T c.15013C>A p.Q5005K Missense 89/102 - 1
6-90368343-C-A c.15007G>T p.G5003C Missense 89/102 - 1
6-90368355-G-A c.14995C>T p.P4999S Missense 89/102 - 3
6-90368362-C-T c.14988G>A p.E4996= Synonymous 89/102 - 1
6-90368379-C-T c.14971G>A p.D4991N Missense 89/102 - 1
6-90368380-G-A c.14970C>T p.A4990= Synonymous 89/102 - 9
6-90368380-G-C c.14970C>G p.A4990= Synonymous 89/102 - 2
6-90368380-G-T c.14970C>A p.A4990= Synonymous 89/102 - 2
6-90368385-C-T c.14965G>A p.E4989K Missense 89/102 - 3
6-90368401-C-A c.14949G>T p.V4983= Synonymous 89/102 - 1
6-90368401-C-G c.14949G>C p.V4983= Synonymous 89/102 - 1
6-90368401-C-T c.14949G>A p.V4983= Synonymous 89/102 - 1
6-90368415-G-C c.14935C>G p.Q4979E Missense 89/102 - 1
6-90368416-C-A c.14934G>T p.E4978D Missense 89/102 - 1
6-90368419-C-T c.14931G>A p.E4977= Synonymous 89/102 - 1
6-90368421-C-T c.14929G>A p.E4977K Missense 89/102 - 1
6-90368423-G-A c.14927C>T p.S4976F Missense 89/102 - 3
6-90368429-T-G c.14921A>C p.E4974A Missense 89/102 - 2
6-90368430-C-A c.14920G>T p.E4974* Nonsense 89/102 - 4
6-90368431-T-TC c.14918_14919insG p.E4974Rfs*4 Frameshift 89/102 - 1
6-90368448-C-A c.14902G>T p.A4968S Missense 89/102 - 1
6-90368464-A-T c.14886T>A p.D4962E Missense 89/102 - 1
6-90368471-C-A c.14879G>T p.G4960V Missense 89/102 - 2
6-90368472-C-G c.14878G>C p.G4960R Missense 89/102 - 1
6-90368485-C-A c.14865G>T p.E4955D Missense 89/102 - 1
6-90368485-C-G c.14865G>C p.E4955D Missense 89/102 - 1
6-90368487-C-G c.14863G>C p.E4955Q Missense 89/102 - 1
6-90368506-A-T c.14844T>A p.D4948E Missense 89/102 - 1
6-90368511-C-A c.14839G>T p.E4947* Nonsense 89/102 - 1
6-90368513-C-G c.14837G>C p.S4946T Missense 89/102 - 1
6-90368515-G-A c.14835C>T p.P4945= Synonymous 89/102 - 1
6-90368516-G-A c.14834C>T p.P4945L Missense 89/102 - 1
6-90368526-C-G c.14824G>C p.E4942Q Missense 89/102 - 3
6-90368532-C-T c.14818G>A p.E4940K Missense 89/102 - 1
6-90368538-G-A c.14812C>T p.P4938S Missense 89/102 - 1
6-90368539-A-G c.14811T>C p.S4937= Synonymous 89/102 - 1
6-90368540-C-G c.14810G>C p.S4937T Missense 89/102 - 1
6-90368540-CT-TA c.14809_14810delinsTA p.S4937Y Missense 89/102 - 2
6-90368543-T-A c.14807A>T p.Q4936L Missense 89/102 - 1
6-90368546-C-T c.14804G>A p.S4935N Missense 89/102 - 1
6-90368550-C-T c.14800G>A p.E4934K Missense 89/102 - 3
6-90368551-G-C c.14799C>G p.N4933K Missense 89/102 - 1
6-90368551-G-T c.14799C>A p.N4933K Missense 89/102 - 1
6-90368559-C-A c.14791G>T p.D4931Y Missense 89/102 - 1
6-90368559-C-T c.14791G>A p.D4931N Missense 89/102 - 3
6-90368567-G-A c.14783C>T p.T4928I Missense 89/102 - 1
6-90368580-C-T c.14770G>A p.E4924K Missense 89/102 - 1
6-90368581-C-T c.14769G>A p.E4923= Synonymous 89/102 - 1
6-90368591-T-A c.14759A>T p.H4920L Missense 89/102 - 1
6-90368595-C-T c.14755G>A p.G4919S Missense 89/102 - 1
6-90368608-T-C c.14742A>G p.K4914= Synonymous 89/102 - 1
6-90368610-T-C c.14740A>G p.K4914E Missense 89/102 - 1
6-90368607-GT-G c.14742del p.K4914Nfs*208 Frameshift 89/102 - 1
6-90368613-C-T c.14737G>A p.E4913K Missense 89/102 - 1
6-90368620-C-A c.14730G>T p.E4910D Missense 89/102 - 1
6-90368620-C-G c.14730G>C p.E4910D Missense 89/102 - 1
6-90369699-C-T c.14714-1063G>A - IntronicSNV - 88/101 1
6-90371124-G-A c.14713+26C>T - IntronicSNV - 88/101 1
6-90371153-C-T c.14710G>A p.E4904K Missense 88/102 - 3
6-90371155-C-G c.14708G>C p.G4903A Missense 88/102 - 1
6-90371155-C-T c.14708G>A p.G4903E Missense 88/102 - 1
6-90371158-T-C c.14705A>G p.E4902G Missense 88/102 - 1
6-90371159-C-T c.14704G>A p.E4902K Missense 88/102 - 1
6-90371166-TG-T c.14697del p.D4899Efs*13 Frameshift 88/102 - 1
6-90371169-G-A c.14694C>T p.T4898= Synonymous 88/102 - 6
6-90371169-G-C c.14694C>G p.T4898= Synonymous 88/102 - 5
6-90371169-G-T c.14694C>A p.T4898= Synonymous 88/102 - 3
6-90371175-C-T c.14688G>A p.E4896= Synonymous 88/102 - 2
6-90371183-C-T c.14680G>A p.G4894S Missense 88/102 - 1
6-90371185-T-G c.14678A>C p.N4893T Missense 88/102 - 1
6-90371187-C-G c.14676G>C p.K4892N Missense 88/102 - 1
6-90371201-C-A c.14662G>T p.D4888Y Missense 88/102 - 4
6-90371202-G-A c.14661C>T p.L4887= Synonymous 88/102 - 21
6-90371202-G-C c.14661C>G p.L4887= Synonymous 88/102 - 2
6-90371202-G-T c.14661C>A p.L4887= Synonymous 88/102 - 15
6-90371204-G-A c.14659C>T p.L4887F Missense 88/102 - 1
6-90371205-G-C c.14658C>G p.N4886K Missense 88/102 - 1
6-90371205-G-T c.14658C>A p.N4886K Missense 88/102 - 2
6-90371215-T-C c.14648A>G p.D4883G Missense 88/102 - 11
6-90371219-G-C c.14644C>G p.P4882A Missense 88/102 - 1
6-90371222-G-A c.14641C>T p.L4881F Missense 88/102 - 3
6-90371226-C-A c.14637G>T p.L4879F Missense 88/102 - 2
6-90371226-C-G c.14637G>C p.L4879F Missense 88/102 - 1
6-90371228-A-G c.14635T>C p.L4879= Synonymous 88/102 - 1
6-90371234-C-T c.14629G>A p.E4877K Missense 88/102 - 1
6-90371245-A-G c.14618T>C p.V4873A Missense 88/102 - 1
6-90371245-ACCTTTT-A c.14612_14617del p.E4871_K4872del InFrameDeletion 88/102 - 1
6-90371255-G-A c.14608C>T p.Q4870* Nonsense 88/102 - 2
6-90371258-T-C c.14605A>G p.N4869D Missense 88/102 - 3
6-90371263-T-C c.14600A>G p.H4867R Missense 88/102 - 1
6-90371277-C-A c.14586G>T p.E4862D Missense 88/102 - 1
6-90371277-C-G c.14586G>C p.E4862D Missense 88/102 - 1
6-90371704-G-A c.14565+102C>T - IntronicSNV - 87/101 5
6-90371808-C-A c.14563G>T p.E4855* Nonsense 87/102 - 2
6-90371809-A-G c.14562T>C p.D4854= Synonymous 87/102 - 2
6-90371811-C-A c.14560G>T p.D4854Y Missense 87/102 - 1
6-90371813-A-G c.14558T>C p.I4853T Missense 87/102 - 3
6-90371815-T-C c.14556A>G p.Q4852= Synonymous 87/102 - 1
6-90371815-T-G c.14556A>C p.Q4852H Missense 87/102 - 1
6-90371817-G-A c.14554C>T p.Q4852* Nonsense 87/102 - 3
6-90371820-C-G c.14551G>C p.E4851Q Missense 87/102 - 2
6-90371839-T-C c.14532A>G p.Q4844= Synonymous 87/102 - 1
6-90371845-A-G c.14526T>C p.G4842= Synonymous 87/102 - 2
6-90371847-C-G c.14524G>C p.G4842R Missense 87/102 - 1
6-90371850-C-G c.14521G>C p.D4841H Missense 87/102 - 1
6-90371850-C-T c.14521G>A p.D4841N Missense 87/102 - 1
6-90371881-C-A c.14490G>T p.K4830N Missense 87/102 - 6
6-90371881-C-G c.14490G>C p.K4830N Missense 87/102 - 9
6-90371887-T-C c.14484A>G p.Q4828= Synonymous 87/102 - 1
6-90371890-C-T c.14481G>A p.Q4827= Synonymous 87/102 - 2
6-90371893-G-C c.14478C>G p.S4826R Missense 87/102 - 1
6-90371893-G-T c.14478C>A p.S4826R Missense 87/102 - 2
6-90371895-T-G c.14476A>C p.S4826R Missense 87/102 - 1
6-90371908-T-A c.14463A>T p.S4821= Synonymous 87/102 - 1
6-90371908-T-C c.14463A>G p.S4821= Synonymous 87/102 - 3
6-90371908-T-G c.14463A>C p.S4821= Synonymous 87/102 - 1
6-90371909-G-A c.14462C>T p.S4821L Missense 87/102 - 1
6-90371914-G-A c.14457C>T p.G4819= Synonymous 87/102 - 1
6-90371922-C-G c.14449G>C p.D4817H Missense 87/102 - 1
6-90371925-A-C c.14446T>G p.L4816V Missense 87/102 - 3
6-90371928-T-C c.14443A>G p.N4815D Missense 87/102 - 1
6-90371951-G-A c.14420C>T p.S4807F Missense 87/102 - 3
6-90371951-G-C c.14420C>G p.S4807C Missense 87/102 - 2
6-90371955-C-G c.14416G>C p.D4806H Missense 87/102 - 1
6-90371986-C-T c.14413-28G>A - IntronicSNV - 86/101 6
6-90372515-T-G c.14408A>C p.D4803A Missense 86/102 - 1
6-90372527-C-A c.14396G>T p.G4799V Missense 86/102 - 1
6-90372531-T-C c.14392A>G p.T4798A Missense 86/102 - 1
6-90372534-C-T c.14389G>A p.E4797K Missense 86/102 - 1
6-90372547-G-C c.14376C>G p.D4792E Missense 86/102 - 1
6-90372547-G-T c.14376C>A p.D4792E Missense 86/102 - 1
6-90372547-GTCT-G c.14373_14375del p.E4791del InFrameDeletion 86/102 - 1
6-90372555-C-A c.14368G>T p.E4790* Nonsense 86/102 - 1
6-90372559-C-G c.14364G>C p.E4788D Missense 86/102 - 1
6-90372561-C-T c.14362G>A p.E4788K Missense 86/102 - 2
6-90372562-A-T c.14361T>A p.D4787E Missense 86/102 - 2
6-90372550-TTCTTCCTCCTCA-T c.14361_14372del p.D4787_E4790del InFrameDeletion 86/102 - 5
6-90372562-ATCT-A c.14358_14360del p.E4786del InFrameDeletion 86/102 - 1
6-90372565-T-A c.14358A>T p.E4786D Missense 86/102 - 1
6-90372565-TTCC-T c.14355_14357del p.E4786del InFrameDeletion 86/102 - 1
6-90372574-A-C c.14349T>G p.D4783E Missense 86/102 - 23
6-90372574-A-G c.14349T>C p.D4783= Synonymous 86/102 - 2
6-90372574-A-T c.14349T>A p.D4783E Missense 86/102 - 17
6-90372576-C-T c.14347G>A p.D4783N Missense 86/102 - 3
6-90372583-A-C c.14340T>G p.G4780= Synonymous 86/102 - 1
6-90372583-A-G c.14340T>C p.G4780= Synonymous 86/102 - 1
6-90372583-A-T c.14340T>A p.G4780= Synonymous 86/102 - 1
6-90372593-C-G c.14330G>C p.R4777T Missense 86/102 - 1
6-90372596-T-C c.14327A>G p.E4776G Missense 86/102 - 1
6-90372597-C-T c.14326G>A p.E4776K Missense 86/102 - 1
6-90372609-C-T c.14314G>A p.D4772N Missense 86/102 - 2
6-90372614-T-C c.14309A>G p.E4770G Missense 86/102 - 1
6-90372615-C-A c.14308G>T p.E4770* Nonsense 86/102 - 1
6-90372630-C-T c.14293G>A p.D4765N Missense 86/102 - 1
6-90372631-G-A c.14292C>T p.G4764= Synonymous 86/102 - 1
6-90372634-C-A c.14289G>T p.M4763I Missense 86/102 - 1
6-90372634-C-G c.14289G>C p.M4763I Missense 86/102 - 2
6-90372634-C-T c.14289G>A p.M4763I Missense 86/102 - 1
6-90372637-G-C c.14286C>G p.H4762Q Missense 86/102 - 1
6-90372638-T-C c.14285A>G p.H4762R Missense 86/102 - 1
6-90372639-G-A c.14284C>T p.H4762Y Missense 86/102 - 1
6-90372656-C-T c.14267G>A p.G4756D Missense 86/102 - 1
6-90372658-C-A c.14265G>T p.E4755D Missense 86/102 - 2
6-90372658-C-G c.14265G>C p.E4755D Missense 86/102 - 1
6-90372659-T-C c.14264A>G p.E4755G Missense 86/102 - 1
6-90372659-T-G c.14264A>C p.E4755A Missense 86/102 - 1
6-90372661-A-G c.14262T>C p.S4754= Synonymous 86/102 - 1
6-90372662-C-G c.14261G>C p.S4754T Missense 86/102 - 1
6-90372666-C-A c.14257G>T p.D4753Y Missense 86/102 - 1
6-90372673-C-T c.14250G>A p.E4750= Synonymous 86/102 - 1
6-90372684-C-G c.14239G>C p.E4747Q Missense 86/102 - 2
6-90374186-A-C c.14236+20T>G - IntronicSNV - 85/101 1
6-90374212-C-A c.14230G>T p.E4744* Nonsense 85/102 - 4
6-90374212-C-G c.14230G>C p.E4744Q Missense 85/102 - 2
6-90374212-C-T c.14230G>A p.E4744K Missense 85/102 - 1
6-90374242-C-A c.14200G>T p.D4734Y Missense 85/102 - 1
6-90374243-A-G c.14199T>C p.F4733= Synonymous 85/102 - 1
6-90374253-G-A c.14189C>T p.S4730L Missense 85/102 - 4
6-90374255-C-T c.14187G>A p.M4729I Missense 85/102 - 1
6-90374257-T-C c.14185A>G p.M4729V Missense 85/102 - 1
6-90374260-C-T c.14182G>A p.E4728K Missense 85/102 - 1
6-90374265-G-C c.14177C>G p.A4726G Missense 85/102 - 1
6-90374266-C-G c.14176G>C p.A4726P Missense 85/102 - 1
6-90374275-C-T c.14167G>A p.E4723K Missense 85/102 - 1
6-90374276-G-A c.14166C>T p.G4722= Synonymous 85/102 - 1
6-90374278-C-T c.14164G>A p.G4722S Missense 85/102 - 2
6-90374282-A-G c.14160T>C p.I4720= Synonymous 85/102 - 1
6-90374282-A-T c.14160T>A p.I4720= Synonymous 85/102 - 1
6-90374283-A-G c.14159T>C p.I4720T Missense 85/102 - 16
6-90374287-C-T c.14155G>A p.D4719N Missense 85/102 - 1
6-90374289-G-A c.14153C>T p.S4718F Missense 85/102 - 1
6-90374301-G-A c.14141C>T p.P4714L Missense 85/102 - 1
6-90374308-C-A c.14134G>T p.E4712* Nonsense 85/102 - 1
6-90374320-C-G c.14122G>C p.E4708Q Missense 85/102 - 1
6-90374327-C-A c.14115G>T p.K4705N Missense 85/102 - 1
6-90374327-C-G c.14115G>C p.K4705N Missense 85/102 - 1
6-90374330-C-A c.14112G>T p.Q4704H Missense 85/102 - 1
6-90374336-T-C c.14106A>G p.T4702= Synonymous 85/102 - 1
6-90374341-C-T c.14101G>A p.D4701N Missense 85/102 - 1
6-90374456-A-G c.14095-109T>C - IntronicSNV - 84/101 2
6-90377674-A-C c.14094+59T>G - IntronicSNV - 84/101 2
6-90377735-G-C c.14092C>G p.Q4698E Missense 84/102 - 1
6-90377741-C-G c.14086G>C p.E4696Q Missense 84/102 - 1
6-90377747-C-T c.14080G>A p.G4694R Missense 84/102 - 1
6-90377748-G-A c.14079C>T p.I4693= Synonymous 84/102 - 2
6-90377748-G-T c.14079C>A p.I4693= Synonymous 84/102 - 2
6-90377753-G-A c.14074C>T p.Q4692* Nonsense 84/102 - 4
6-90377758-C-T c.14069G>A p.S4690N Missense 84/102 - 2
6-90377777-C-T c.14050G>A p.E4684K Missense 84/102 - 2
6-90377778-G-A c.14049C>T p.G4683= Synonymous 84/102 - 1
6-90377791-C-G c.14036G>C p.G4679A Missense 84/102 - 2
6-90377798-C-T c.14029G>A p.G4677R Missense 84/102 - 1
6-90377802-A-G c.14025T>C p.Y4675= Synonymous 84/102 - 1
6-90377807-C-A c.14020G>T p.D4674Y Missense 84/102 - 1
6-90377810-G-A c.14017C>T p.H4673Y Missense 84/102 - 3
6-90377815-T-G c.14012A>C p.E4671A Missense 84/102 - 2
6-90377824-C-A c.14003G>T p.G4668V Missense 84/102 - 1
6-90377829-TCC-GCT c.13996_13998delinsAGC p.G4666S Missense 84/102 - 1
6-90377830-C-G c.13997G>C p.G4666A Missense 84/102 - 1
6-90377830-C-T c.13997G>A p.G4666E Missense 84/102 - 2
6-90377836-G-A c.13991C>T p.S4664L Missense 84/102 - 1
6-90377845-A-G c.13982T>C p.M4661T Missense 84/102 - 1
6-90377846-T-G c.13981A>C p.M4661L Missense 84/102 - 1
6-90377852-C-A c.13975G>T p.E4659* Nonsense 84/102 - 1
6-90377853-T-G c.13974A>C p.K4658N Missense 84/102 - 1
6-90377855-T-C c.13972A>G p.K4658E Missense 84/102 - 1
6-90377860-A-G c.13967T>C p.L4656S Missense 84/102 - 3
6-90377868-T-C c.13959A>G p.G4653= Synonymous 84/102 - 1
6-90380558-G-A c.13956+80C>T - IntronicSNV - 83/101 1
6-90380663-T-A c.13931A>T p.Q4644L Missense 83/102 - 1
6-90380666-G-T c.13928C>A p.A4643D Missense 83/102 - 1
6-90380667-C-T c.13927G>A p.A4643T Missense 83/102 - 1
6-90380678-A-C c.13916T>G p.L4639R Missense 83/102 - 4
6-90380680-C-A c.13914G>T p.L4638= Synonymous 83/102 - 1
6-90380680-C-G c.13914G>C p.L4638= Synonymous 83/102 - 1
6-90380680-C-T c.13914G>A p.L4638= Synonymous 83/102 - 1
6-90380682-G-A c.13912C>T p.L4638= Synonymous 83/102 - 1
6-90380696-C-T c.13898G>A p.R4633H Missense 83/102 - 1
6-90380697-G-A c.13897C>T p.R4633C Missense 83/102 - 1
6-90380703-T-C c.13891A>G p.T4631A Missense 83/102 - 1
6-90380710-A-C c.13884T>G p.S4628= Synonymous 83/102 - 1
6-90380710-A-G c.13884T>C p.S4628= Synonymous 83/102 - 3
6-90380710-A-T c.13884T>A p.S4628= Synonymous 83/102 - 1
6-90380712-A-G c.13882T>C p.S4628P Missense 83/102 - 3
6-90380717-G-T c.13877C>A p.T4626N Missense 83/102 - 1
6-90380730-G-A c.13864C>T p.L4622F Missense 83/102 - 1
6-90380733-C-T c.13861G>A p.V4621I Missense 83/102 - 8
6-90380734-G-A c.13860C>T p.L4620= Synonymous 83/102 - 1
6-90380734-G-C c.13860C>G p.L4620= Synonymous 83/102 - 1
6-90380734-G-T c.13860C>A p.L4620= Synonymous 83/102 - 1
6-90380739-C-A c.13855G>T p.D4619Y Missense 83/102 - 3
6-90380739-C-G c.13855G>C p.D4619H Missense 83/102 - 5
6-90380739-C-T c.13855G>A p.D4619N Missense 83/102 - 1
6-90380746-G-A c.13848C>T p.S4616= Synonymous 83/102 - 1
6-90380754-G-A c.13840C>T p.L4614F Missense 83/102 - 1
6-90380756-A-G c.13838T>C p.V4613A Missense 83/102 - 1
6-90380756-A-T c.13838T>A p.V4613D Missense 83/102 - 5
6-90380764-C-A c.13830G>T p.L4610= Synonymous 83/102 - 1
6-90380764-CAG-AAA c.13828_13830delinsTTT p.L4610F Missense 83/102 - 1
6-90380768-C-T c.13826G>A p.R4609H Missense 83/102 - 1
6-90380769-G-A c.13825C>T p.R4609C Missense 83/102 - 1
6-90380781-A-C c.13813T>G p.S4605A Missense 83/102 - 1
6-90380782-A-G c.13812T>C p.C4604= Synonymous 83/102 - 1
6-90380797-G-A c.13797C>T p.F4599= Synonymous 83/102 - 1
6-90381805-T-C c.13794+114A>G - IntronicSNV - 82/101 1
6-90381849-A-C c.13794+70T>G - IntronicSNV - 82/101 4
6-90381849-A-G c.13794+70T>C - IntronicSNV - 82/101 5
6-90381930-C-G c.13783G>C p.A4595P Missense 82/102 - 1
6-90381933-C-T c.13780G>A p.A4594T Missense 82/102 - 2
6-90381945-C-T c.13768G>A p.E4590K Missense 82/102 - 7
6-90381947-C-A c.13766G>T p.G4589V Missense 82/102 - 1
6-90381948-C-T c.13765G>A p.G4589S Missense 82/102 - 1
6-90381952-C-A c.13761G>T p.S4587= Synonymous 82/102 - 3
6-90381952-C-G c.13761G>C p.S4587= Synonymous 82/102 - 1
6-90381952-C-T c.13761G>A p.S4587= Synonymous 82/102 - 1
6-90381953-G-A c.13760C>T p.S4587L Missense 82/102 - 4
6-90381976-G-A c.13737C>T p.S4579= Synonymous 82/102 - 1
6-90381976-G-C c.13737C>G p.S4579= Synonymous 82/102 - 1
6-90381976-G-T c.13737C>A p.S4579= Synonymous 82/102 - 1
6-90381977-G-A c.13736C>T p.S4579F Missense 82/102 - 2
6-90381983-G-A c.13730C>T p.A4577V Missense 82/102 - 5
6-90381986-G-A c.13727C>T p.S4576F Missense 82/102 - 2
6-90381987-A-C c.13726T>G p.S4576A Missense 82/102 - 1
6-90381992-A-G c.13721T>C p.I4574T Missense 82/102 - 1
6-90382002-C-T c.13711G>A p.V4571M Missense 82/102 - 3
6-90382011-T-C c.13702A>G p.T4568A Missense 82/102 - 1
6-90382012-G-A c.13701C>T p.S4567= Synonymous 82/102 - 1
6-90382015-C-T c.13698G>A p.V4566= Synonymous 82/102 - 1
6-90382021-G-A c.13692C>T p.A4564= Synonymous 82/102 - 1
6-90382022-G-A c.13691C>T p.A4564V Missense 82/102 - 1
6-90382022-G-C c.13691C>G p.A4564G Missense 82/102 - 1
6-90382058-C-T c.13655G>A p.G4552E Missense 82/102 - 2
6-90382061-G-A c.13652C>T p.S4551L Missense 82/102 - 1
6-90382061-G-C c.13652C>G p.S4551* Nonsense 82/102 - 3
6-90382061-G-T c.13652C>A p.S4551* Nonsense 82/102 - 2
6-90382073-T-C c.13640A>G p.E4547G Missense 82/102 - 1
6-90382074-C-G c.13639G>C p.E4547Q Missense 82/102 - 5
6-90382080-C-A c.13633G>T p.G4545C Missense 82/102 - 1
6-90382082-G-A c.13631C>T p.A4544V Missense 82/102 - 1
6-90382150-C-A c.13631-68G>T - IntronicSNV - 81/101 1
6-90382270-A-G c.13626T>C p.D4542= Synonymous 81/102 - 2
6-90382275-C-T c.13621G>A p.E4541K Missense 81/102 - 1
6-90382276-T-C c.13620A>G p.Q4540= Synonymous 81/102 - 1
6-90382282-G-A c.13614C>T p.S4538= Synonymous 81/102 - 1
6-90382286-G-C c.13610C>G p.A4537G Missense 81/102 - 1
6-90382295-G-C c.13601C>G p.T4534S Missense 81/102 - 4
6-90382296-T-A c.13600A>T p.T4534S Missense 81/102 - 3
6-90382298-T-G c.13598A>C p.N4533T Missense 81/102 - 1
6-90382300-C-A c.13596G>T p.E4532D Missense 81/102 - 2
6-90382302-C-T c.13594G>A p.E4532K Missense 81/102 - 1
6-90382299-TCTC-T c.13594_13596del p.E4532del InFrameDeletion 81/102 - 1
6-90382305-C-G c.13591G>C p.E4531Q Missense 81/102 - 2
6-90382310-T-C c.13586A>G p.K4529R Missense 81/102 - 1
6-90382314-C-A c.13582G>T p.E4528* Nonsense 81/102 - 1
6-90382314-C-T c.13582G>A p.E4528K Missense 81/102 - 1
6-90382315-A-C c.13581T>G p.N4527K Missense 81/102 - 1
6-90382315-A-T c.13581T>A p.N4527K Missense 81/102 - 1
6-90382322-C-G c.13574G>C p.R4525T Missense 81/102 - 1
6-90382327-T-A c.13569A>T p.E4523D Missense 81/102 - 1
6-90382327-T-G c.13569A>C p.E4523D Missense 81/102 - 1
6-90382336-C-A c.13560G>T p.Q4520H Missense 81/102 - 1
6-90382336-C-G c.13560G>C p.Q4520H Missense 81/102 - 2
6-90382347-A-C c.13549T>G p.C4517G Missense 81/102 - 1
6-90382348-G-A c.13548C>T p.L4516= Synonymous 81/102 - 4
6-90382348-G-C c.13548C>G p.L4516= Synonymous 81/102 - 2
6-90382348-G-T c.13548C>A p.L4516= Synonymous 81/102 - 1
6-90382350-G-A c.13546C>T p.L4516F Missense 81/102 - 1
6-90382350-G-T c.13546C>A p.L4516I Missense 81/102 - 1
6-90382351-G-T c.13545C>A p.I4515= Synonymous 81/102 - 1
6-90382356-C-A c.13540G>T p.A4514S Missense 81/102 - 1
6-90382359-G-A c.13537C>T p.R4513* Nonsense 81/102 - 1
6-90382364-G-A c.13532C>T p.A4511V Missense 81/102 - 2
6-90382380-C-T c.13516G>A p.E4506K Missense 81/102 - 1
6-90382389-C-CA c.13506_13507insT p.D4503* Nonsense 81/102 - 1
6-90382390-T-C c.13506A>G p.E4502= Synonymous 81/102 - 1
6-90382394-A-G c.13502T>C p.V4501A Missense 81/102 - 1
6-90382396-A-G c.13500T>C p.F4500= Synonymous 81/102 - 1
6-90382405-G-A c.13491C>T p.D4497= Synonymous 81/102 - 2
6-90382408-C-T c.13488G>A p.L4496= Synonymous 81/102 - 1
6-90382410-A-G c.13486T>C p.L4496= Synonymous 81/102 - 3
6-90382411-C-A c.13485G>T p.M4495I Missense 81/102 - 1
6-90382411-C-G c.13485G>C p.M4495I Missense 81/102 - 1
6-90382411-C-T c.13485G>A p.M4495I Missense 81/102 - 1
6-90382851-A-C c.13474+104T>G - IntronicSNV - 80/101 1
6-90382947-T-C c.13474+8A>G - IntronicSNV - 80/101 1
6-90382958-C-G c.13471G>C p.G4491R Missense 80/102 - 1
6-90382960-T-C c.13469A>G p.Q4490R Missense 80/102 - 2
6-90382962-G-A c.13467C>T p.S4489= Synonymous 80/102 - 1
6-90382965-A-G c.13464T>C p.D4488= Synonymous 80/102 - 1
6-90382967-C-G c.13462G>C p.D4488H Missense 80/102 - 2
6-90383004-A-C c.13425T>G p.A4475= Synonymous 80/102 - 1
6-90383024-C-T c.13405G>A p.E4469K Missense 80/102 - 1
6-90383026-C-A c.13403G>T p.G4468V Missense 80/102 - 1
6-90383027-C-A c.13402G>T p.G4468* Nonsense 80/102 - 1
6-90383029-C-G c.13400G>C p.R4467T Missense 80/102 - 2
6-90383033-C-A c.13396G>T p.V4466L Missense 80/102 - 1
6-90383033-C-G c.13396G>C p.V4466L Missense 80/102 - 1
6-90383034-A-G c.13395T>C p.Y4465= Synonymous 80/102 - 1
6-90383039-C-T c.13390G>A p.E4464K Missense 80/102 - 1
6-90383046-T-C c.13383A>G p.E4461= Synonymous 80/102 - 1
6-90383047-T-A c.13382A>T p.E4461V Missense 80/102 - 1
6-90383048-C-T c.13381G>A p.E4461K Missense 80/102 - 1
6-90383053-A-G c.13376T>C p.L4459P Missense 80/102 - 6
6-90383056-G-A c.13373C>T p.A4458V Missense 80/102 - 1
6-90383066-A-T c.13363T>A p.S4455T Missense 80/102 - 3
6-90383069-C-G c.13360G>C p.D4454H Missense 80/102 - 1
6-90383067-GTC-G c.13360_13361del p.D4454Lfs*7 Frameshift 80/102 - 1
6-90383071-C-G c.13358G>C p.R4453T Missense 80/102 - 1
6-90383078-C-A c.13351G>T p.E4451* Nonsense 80/102 - 1
6-90383078-C-T c.13351G>A p.E4451K Missense 80/102 - 1
6-90383081-C-T c.13348G>A p.V4450I Missense 80/102 - 1
6-90383087-T-A c.13342A>T p.M4448L Missense 80/102 - 2
6-90383087-T-G c.13342A>C p.M4448L Missense 80/102 - 1
6-90383103-C-A c.13326G>T p.L4442F Missense 80/102 - 2
6-90383103-C-G c.13326G>C p.L4442F Missense 80/102 - 2
6-90383119-T-C c.13310A>G p.Q4437R Missense 80/102 - 1
6-90383140-G-T c.13289C>A p.S4430Y Missense 80/102 - 1
6-90383142-C-T c.13287G>A p.L4429= Synonymous 80/102 - 2
6-90383144-A-G c.13285T>C p.L4429= Synonymous 80/102 - 2
6-90383146-CA-GT c.13282_13283delinsAC p.C4428T Missense 80/102 - 1
6-90383153-G-A c.13276C>T p.L4426= Synonymous 80/102 - 1
6-90383154-C-A c.13275G>T p.A4425= Synonymous 80/102 - 1
6-90383154-C-G c.13275G>C p.A4425= Synonymous 80/102 - 1
6-90383154-C-T c.13275G>A p.A4425= Synonymous 80/102 - 1
6-90383163-G-A c.13266C>T p.C4422= Synonymous 80/102 - 1
6-90383171-C-G c.13258G>C p.E4420Q Missense 80/102 - 1
6-90383177-C-G c.13252G>C p.D4418H Missense 80/102 - 1
6-90383181-C-A c.13248G>T p.W4416C Missense 80/102 - 1
6-90383791-A-G c.13247+32T>C - IntronicSNV - 79/101 1
6-90383826-G-T c.13244C>A p.S4415Y Missense 79/102 - 1
6-90383842-C-G c.13228G>C p.E4410Q Missense 79/102 - 1
6-90383850-T-C c.13220A>G p.Q4407R Missense 79/102 - 2
6-90383852-C-T c.13218G>A p.Q4406= Synonymous 79/102 - 1
6-90383862-T-C c.13208A>G p.K4403R Missense 79/102 - 1
6-90383866-C-T c.13204G>A p.D4402N Missense 79/102 - 1
6-90383867-G-A c.13203C>T p.V4401= Synonymous 79/102 - 3
6-90383867-G-C c.13203C>G p.V4401= Synonymous 79/102 - 3
6-90383867-G-T c.13203C>A p.V4401= Synonymous 79/102 - 3
6-90383869-C-G c.13201G>C p.V4401L Missense 79/102 - 1
6-90383869-C-T c.13201G>A p.V4401I Missense 79/102 - 6
6-90383870-G-A c.13200C>T p.D4400= Synonymous 79/102 - 4
6-90383871-T-C c.13199A>G p.D4400G Missense 79/102 - 1
6-90383875-C-T c.13195G>A p.A4399T Missense 79/102 - 1
6-90383903-C-A c.13167G>T p.E4389D Missense 79/102 - 2
6-90383903-C-G c.13167G>C p.E4389D Missense 79/102 - 2
6-90383905-C-G c.13165G>C p.E4389Q Missense 79/102 - 1
6-90383905-C-T c.13165G>A p.E4389K Missense 79/102 - 1
6-90383913-C-T c.13157G>A p.R4386K Missense 79/102 - 1
6-90383929-G-A c.13141C>T p.Q4381* Nonsense 79/102 - 1
6-90383931-C-A c.13139G>T p.W4380L Missense 79/102 - 4
6-90383934-A-T c.13136T>A p.L4379H Missense 79/102 - 1
6-90383938-G-A c.13132C>T p.H4378Y Missense 79/102 - 2
6-90383950-G-A c.13120C>T p.R4374W Missense 79/102 - 6
6-90383955-C-T c.13115G>A p.R4372Q Missense 79/102 - 1
6-90383964-G-A c.13106C>T p.S4369F Missense 79/102 - 1
6-90383966-G-T c.13104C>A p.P4368= Synonymous 79/102 - 1
6-90383967-G-C c.13103C>G p.P4368R Missense 79/102 - 2
6-90383981-A-C c.13089T>G p.P4363= Synonymous 79/102 - 1
6-90383981-A-G c.13089T>C p.P4363= Synonymous 79/102 - 1
6-90383981-A-T c.13089T>A p.P4363= Synonymous 79/102 - 1
6-90383983-G-A c.13087C>T p.P4363S Missense 79/102 - 1
6-90383996-G-T c.13074C>A p.Y4358* Nonsense 79/102 - 1
6-90383997-T-C c.13073A>G p.Y4358C Missense 79/102 - 1
6-90384004-G-A c.13066C>T p.L4356= Synonymous 79/102 - 1
6-90384053-A-G c.13017T>C p.L4339= Synonymous 79/102 - 1
6-90384055-G-T c.13015C>A p.L4339I Missense 79/102 - 3
6-90384058-C-T c.13012G>A p.E4338K Missense 79/102 - 1
6-90384061-G-A c.13009C>T p.P4337S Missense 79/102 - 1
6-90384069-CA-C c.13001del p.L4334Rfs*14 Frameshift 79/102 - 1
6-90384078-C-T c.12992G>A p.G4331D Missense 79/102 - 1
6-90384082-G-A c.12988C>T p.P4330S Missense 79/102 - 2
6-90384088-G-A c.12982C>T p.Q4328* Nonsense 79/102 - 1
6-90384093-A-G c.12977T>C p.L4326P Missense 79/102 - 1
6-90384111-T-G c.12959A>C p.H4320P Missense 79/102 - 1
6-90384115-C-A c.12955G>T p.G4319C Missense 79/102 - 1
6-90384127-C-T c.12943G>A p.G4315R Missense 79/102 - 1
6-90384131-A-C c.12939T>G p.S4313R Missense 79/102 - 2
6-90384131-A-T c.12939T>A p.S4313R Missense 79/102 - 2
6-90384133-T-G c.12937A>C p.S4313R Missense 79/102 - 2
6-90384132-C-A c.12938G>T p.S4313I Missense 79/102 - 1
6-90384146-G-A c.12924C>T p.L4308= Synonymous 79/102 - 1
6-90384146-G-C c.12924C>G p.L4308= Synonymous 79/102 - 2
6-90384146-G-T c.12924C>A p.L4308= Synonymous 79/102 - 1
6-90384150-A-T c.12920T>A p.L4307H Missense 79/102 - 1
6-90384156-G-A c.12914C>T p.S4305F Missense 79/102 - 1
6-90384158-G-A c.12912C>T p.L4304= Synonymous 79/102 - 1
6-90384158-G-C c.12912C>G p.L4304= Synonymous 79/102 - 1
6-90384158-G-T c.12912C>A p.L4304= Synonymous 79/102 - 1
6-90384159-A-C c.12911T>G p.L4304R Missense 79/102 - 1
6-90384160-G-C c.12910C>G p.L4304V Missense 79/102 - 1
6-90384168-A-G c.12902T>C p.L4301P Missense 79/102 - 1
6-90384169-G-A c.12901C>T p.L4301F Missense 79/102 - 1
6-90384174-A-G c.12896T>C p.I4299T Missense 79/102 - 1
6-90384187-T-A c.12883A>T p.M4295L Missense 79/102 - 2
6-90384192-A-G c.12878T>C p.L4293P Missense 79/102 - 1
6-90384193-G-A c.12877C>T p.L4293= Synonymous 79/102 - 1
6-90384193-G-T c.12877C>A p.L4293M Missense 79/102 - 1
6-90384194-G-C c.12876C>G p.H4292Q Missense 79/102 - 1
6-90384194-G-T c.12876C>A p.H4292Q Missense 79/102 - 2
6-90384204-C-T c.12866G>A p.R4289H Missense 79/102 - 3
6-90384205-G-A c.12865C>T p.R4289C Missense 79/102 - 1
6-90384208-C-G c.12862G>C p.E4288Q Missense 79/102 - 1
6-90384212-C-T c.12858G>A p.W4286* Nonsense 79/102 - 1
6-90384213-C-T c.12857G>A p.W4286* Nonsense 79/102 - 1
6-90384222-A-C c.12848T>G p.V4283G Missense 79/102 - 1
6-90384222-A-G c.12848T>C p.V4283A Missense 79/102 - 2
6-90384222-A-T c.12848T>A p.V4283E Missense 79/102 - 3
6-90384224-G-A c.12846C>T p.G4282= Synonymous 79/102 - 1
6-90384224-G-C c.12846C>G p.G4282= Synonymous 79/102 - 1
6-90384224-G-T c.12846C>A p.G4282= Synonymous 79/102 - 1
6-90384228-T-C c.12842A>G p.D4281G Missense 79/102 - 2
6-90384229-C-T c.12841G>A p.D4281N Missense 79/102 - 1
6-90384230-C-A c.12840G>T p.Q4280H Missense 79/102 - 1
6-90384230-C-G c.12840G>C p.Q4280H Missense 79/102 - 1
6-90384231-T-C c.12839A>G p.Q4280R Missense 79/102 - 1
6-90384235-G-A c.12835C>T p.P4279S Missense 79/102 - 2
6-90384235-G-C c.12835C>G p.P4279A Missense 79/102 - 2
6-90384237-G-A c.12833C>T p.P4278L Missense 79/102 - 1
6-90384233-A-AG c.12836dup p.Q4280Sfs*23 Frameshift 79/102 - 1
6-90384233-AG-A c.12836del p.P4279Lfs*36 Frameshift 79/102 - 2
6-90384240-A-G c.12830T>C p.F4277S Missense 79/102 - 1
6-90384248-G-A c.12822C>T p.P4274= Synonymous 79/102 - 1
6-90384252-T-A c.12818A>T p.Y4273F Missense 79/102 - 1
6-90384252-T-C c.12818A>G p.Y4273C Missense 79/102 - 1
6-90384257-C-A c.12813G>T p.Q4271H Missense 79/102 - 1
6-90384261-G-A c.12809C>T p.P4270L Missense 79/102 - 1
6-90384264-C-A c.12806G>T p.G4269V Missense 79/102 - 1
6-90384272-C-T c.12798G>A p.R4266= Synonymous 79/102 - 1
6-90384274-T-G c.12796A>C p.R4266= Synonymous 79/102 - 1
6-90384274-T-C c.12796A>G p.R4266G Missense 79/102 - 12
6-90384287-T-A c.12783A>T p.Q4261H Missense 79/102 - 1
6-90384287-T-G c.12783A>C p.Q4261H Missense 79/102 - 1
6-90384300-A-C c.12770T>G p.L4257R Missense 79/102 - 2
6-90384840-G-C c.12761+343C>G - IntronicSNV - 78/101 1
6-90384995-G-A c.12761+188C>T - IntronicSNV - 78/101 1
6-90385185-G-A c.12759C>T p.L4253= Synonymous 78/102 - 1
6-90385185-G-C c.12759C>G p.L4253= Synonymous 78/102 - 1
6-90385185-G-T c.12759C>A p.L4253= Synonymous 78/102 - 1
6-90385191-G-A c.12753C>T p.I4251= Synonymous 78/102 - 1
6-90385198-T-C c.12746A>G p.Q4249R Missense 78/102 - 3
6-90385202-C-T c.12742G>A p.E4248K Missense 78/102 - 1
6-90385209-C-T c.12735G>A p.T4245= Synonymous 78/102 - 1
6-90385210-G-A c.12734C>T p.T4245M Missense 78/102 - 1
6-90385212-G-A c.12732C>T p.T4244= Synonymous 78/102 - 1
6-90385212-G-C c.12732C>G p.T4244= Synonymous 78/102 - 1
6-90385212-G-T c.12732C>A p.T4244= Synonymous 78/102 - 1
6-90385223-G-A c.12721C>T p.R4241C Missense 78/102 - 1
6-90385227-GCTGTCGGACGA-G c.12707_12717del p.L4236Pfs*9 Frameshift 78/102 - 1
6-90385231-C-T c.12713G>A p.R4238Q Missense 78/102 - 4
6-90385232-G-A c.12712C>T p.R4238* Nonsense 78/102 - 3
6-90385236-G-A c.12708C>T p.L4236= Synonymous 78/102 - 1
6-90385240-A-G c.12704T>C p.M4235T Missense 78/102 - 1
6-90385240-A-T c.12704T>A p.M4235K Missense 78/102 - 1
6-90385248-C-A c.12696G>T p.L4232F Missense 78/102 - 7
6-90385248-C-G c.12696G>C p.L4232F Missense 78/102 - 5
6-90385251-A-G c.12693T>C p.H4231= Synonymous 78/102 - 1
6-90385258-G-A c.12686C>T p.S4229L Missense 78/102 - 1
6-90385267-C-G c.12677G>C p.R4226T Missense 78/102 - 2
6-90385277-C-G c.12667G>C p.E4223Q Missense 78/102 - 1
6-90385285-C-T c.12659G>A p.G4220D Missense 78/102 - 2
6-90385754-A-G c.12645+67T>C - IntronicSNV - 77/101 5
6-90385835-C-T c.12631G>A p.A4211T Missense 77/102 - 2
6-90385852-C-T c.12614G>A p.R4205K Missense 77/102 - 1
6-90385858-T-G c.12608A>C p.H4203P Missense 77/102 - 2
6-90385861-C-T c.12605G>A p.R4202Q Missense 77/102 - 1
6-90385862-G-A c.12604C>T p.R4202W Missense 77/102 - 3
6-90385864-G-A c.12602C>T p.A4201V Missense 77/102 - 1
6-90385873-C-T c.12593G>A p.R4198H Missense 77/102 - 4
6-90385874-G-A c.12592C>T p.R4198C Missense 77/102 - 3
6-90385875-A-G c.12591T>C p.Y4197= Synonymous 77/102 - 1
6-90385876-T-C c.12590A>G p.Y4197C Missense 77/102 - 1
6-90385878-A-C c.12588T>G p.F4196L Missense 77/102 - 4
6-90385878-A-T c.12588T>A p.F4196L Missense 77/102 - 2
6-90385880-A-G c.12586T>C p.F4196L Missense 77/102 - 2
6-90385887-C-A c.12579G>T p.Q4193H Missense 77/102 - 1
6-90385887-C-G c.12579G>C p.Q4193H Missense 77/102 - 1
6-90385890-G-A c.12576C>T p.C4192= Synonymous 77/102 - 1
6-90385893-TC-GT c.12572_12573delinsAC p.G4191D Missense 77/102 - 1
6-90385895-C-T c.12571G>A p.G4191R Missense 77/102 - 4
6-90385898-C-T c.12568G>A p.D4190N Missense 77/102 - 2
6-90385899-C-A c.12567G>T p.W4189C Missense 77/102 - 1
6-90385899-C-G c.12567G>C p.W4189C Missense 77/102 - 6
6-90385899-C-T c.12567G>A p.W4189* Nonsense 77/102 - 1
6-90385909-G-A c.12557C>T p.S4186L Missense 77/102 - 2
6-90385918-G-C c.12548C>G p.T4183R Missense 77/102 - 1
6-90386080-T-C c.12540-154A>G - IntronicSNV - 76/101 1
6-90386821-CT-C c.12539+467del - IntronicDeletion - 76/101 1
6-90387116-C-T c.12539+173G>A - IntronicSNV - 76/101 1
6-90387233-C-T c.12539+56G>A - IntronicSNV - 76/101 6
6-90387292-G-C c.12536C>G p.S4179C Missense 76/102 - 1
6-90387301-T-C c.12527A>G p.E4176G Missense 76/102 - 1
6-90387307-G-A c.12521C>T p.T4174I Missense 76/102 - 1
6-90387317-C-T c.12511G>A p.V4171I Missense 76/102 - 3
6-90387318-CG-C c.12510del p.I4170Mfs*41 Frameshift 76/102 - 1
6-90387318-G-A c.12510C>T p.I4170= Synonymous 76/102 - 1
6-90387321-G-T c.12507C>A p.S4169= Synonymous 76/102 - 1
6-90387329-C-T c.12499G>A p.A4167T Missense 76/102 - 3
6-90387330-G-A c.12498C>T p.S4166= Synonymous 76/102 - 4
6-90387330-G-T c.12498C>A p.S4166R Missense 76/102 - 1
6-90387336-G-A c.12492C>T p.L4164= Synonymous 76/102 - 1
6-90387336-G-C c.12492C>G p.L4164= Synonymous 76/102 - 1
6-90387336-G-T c.12492C>A p.L4164= Synonymous 76/102 - 1
6-90387356-G-A c.12472C>T p.H4158Y Missense 76/102 - 4
6-90387363-C-T c.12465G>A p.E4155= Synonymous 76/102 - 1
6-90387365-C-G c.12463G>C p.E4155Q Missense 76/102 - 1
6-90387377-T-C c.12451A>G p.K4151E Missense 76/102 - 1
6-90387372-G-GT c.12455dup p.N4152Kfs*27 Frameshift 76/102 - 2
6-90387372-GT-G c.12455del p.N4152Tfs*11 Frameshift 76/102 - 1
6-90387379-G-T c.12449C>A p.S4150* Nonsense 76/102 - 1
6-90387382-C-T c.12446G>A p.R4149H Missense 76/102 - 2
6-90387383-G-A c.12445C>T p.R4149C Missense 76/102 - 1
6-90387403-C-T c.12425G>A p.R4142H Missense 76/102 - 7
6-90387404-G-A c.12424C>T p.R4142C Missense 76/102 - 1
6-90388338-A-C c.12392T>G p.F4131C Missense 75/102 - 3
6-90388341-A-G c.12389T>C p.L4130P Missense 75/102 - 1
6-90388353-G-T c.12377C>A p.A4126D Missense 75/102 - 4
6-90388354-C-T c.12376G>A p.A4126T Missense 75/102 - 9
6-90388356-C-A c.12374G>T p.R4125L Missense 75/102 - 1
6-90388357-G-A c.12373C>T p.R4125* Nonsense 75/102 - 2
6-90388361-T-C c.12369A>G p.K4123= Synonymous 75/102 - 1
6-90388362-T-C c.12368A>G p.K4123R Missense 75/102 - 1
6-90388363-T-TA c.12366_12367insT p.K4123* Nonsense 75/102 - 1
6-90388360-GT-G c.12369del p.K4123Nfs*40 Frameshift 75/102 - 1
6-90388368-A-G c.12362T>C p.M4121T Missense 75/102 - 1
6-90388371-A-T c.12359T>A p.L4120H Missense 75/102 - 1
6-90388373-A-C c.12357T>G p.I4119M Missense 75/102 - 1
6-90388390-A-C c.12340T>G p.S4114A Missense 75/102 - 1
6-90388392-C-G c.12338G>C p.R4113P Missense 75/102 - 1
6-90388392-C-T c.12338G>A p.R4113Q Missense 75/102 - 5
6-90388393-G-A c.12337C>T p.R4113W Missense 75/102 - 4
6-90388394-C-A c.12336G>T p.Q4112H Missense 75/102 - 1
6-90388394-C-G c.12336G>C p.Q4112H Missense 75/102 - 1
6-90388394-C-T c.12336G>A p.Q4112= Synonymous 75/102 - 1
6-90388402-C-T c.12328G>A p.E4110K Missense 75/102 - 3
6-90388402-CCTT-C c.12325_12327del p.K4109del InFrameDeletion 75/102 - 1
6-90388405-T-C c.12325A>G p.K4109E Missense 75/102 - 1
6-90388408-C-G c.12322G>C p.E4108Q Missense 75/102 - 1
6-90388410-G-A c.12320C>T p.A4107V Missense 75/102 - 1
6-90388416-G-A c.12314C>T p.P4105L Missense 75/102 - 3
6-90388420-C-A c.12310G>T p.E4104* Nonsense 75/102 - 1
6-90388423-C-G c.12307G>C p.V4103L Missense 75/102 - 1
6-90388424-C-G c.12306G>C p.K4102N Missense 75/102 - 1
6-90388431-CT-AA c.12298_12299delinsTT p.S4100F Missense 75/102 - 1
6-90388433-C-A c.12297G>T p.Q4099H Missense 75/102 - 1
6-90388433-C-G c.12297G>C p.Q4099H Missense 75/102 - 1
6-90388444-T-C c.12286A>G p.S4096G Missense 75/102 - 1
6-90388445-C-G c.12285G>C p.V4095= Synonymous 75/102 - 1
6-90388453-A-G c.12277T>C p.S4093P Missense 75/102 - 2
6-90390233-T-C c.12265+75A>G - IntronicSNV - 74/101 2
6-90390323-G-T c.12250C>A p.L4084I Missense 74/102 - 1
6-90390330-C-G c.12243G>C p.V4081= Synonymous 74/102 - 1
6-90390337-C-T c.12236G>A p.R4079H Missense 74/102 - 1
6-90390338-G-A c.12235C>T p.R4079C Missense 74/102 - 1
6-90390347-G-A c.12226C>T p.P4076S Missense 74/102 - 6
6-90390343-AG-A c.12229del p.L4077Cfs*15 Frameshift 74/102 - 1
6-90390351-C-G c.12222G>C p.E4074D Missense 74/102 - 1
6-90390352-T-A c.12221A>T p.E4074V Missense 74/102 - 1
6-90390360-G-C c.12213C>G p.F4071L Missense 74/102 - 1
6-90390360-G-T c.12213C>A p.F4071L Missense 74/102 - 1
6-90390362-A-G c.12211T>C p.F4071L Missense 74/102 - 1
6-90390364-G-A c.12209C>T p.T4070M Missense 74/102 - 4
6-90390369-G-A c.12204C>T p.C4068= Synonymous 74/102 - 1
6-90390370-C-T c.12203G>A p.C4068Y Missense 74/102 - 2
6-90390372-C-A c.12201G>T p.M4067I Missense 74/102 - 1
6-90390372-C-G c.12201G>C p.M4067I Missense 74/102 - 1
6-90390372-C-T c.12201G>A p.M4067I Missense 74/102 - 1
6-90390384-G-A c.12189C>T p.R4063= Synonymous 74/102 - 1
6-90390384-G-C c.12189C>G p.R4063= Synonymous 74/102 - 1
6-90390384-G-T c.12189C>A p.R4063= Synonymous 74/102 - 1
6-90390385-C-G c.12188G>C p.R4063P Missense 74/102 - 1
6-90390385-CG-GT c.12187_12188delinsAC p.R4063T Missense 74/102 - 1
6-90390385-C-T c.12188G>A p.R4063H Missense 74/102 - 6
6-90390386-G-A c.12187C>T p.R4063C Missense 74/102 - 2
6-90390390-C-T c.12183G>A p.R4061= Synonymous 74/102 - 1
6-90390392-T-G c.12181A>C p.R4061= Synonymous 74/102 - 1
6-90390394-A-T c.12179T>A p.L4060H Missense 74/102 - 1
6-90390396-C-A c.12177G>T p.K4059N Missense 74/102 - 1
6-90390396-C-G c.12177G>C p.K4059N Missense 74/102 - 1
6-90390396-C-T c.12177G>A p.K4059= Synonymous 74/102 - 1
6-90390402-C-T c.12171G>A p.L4057= Synonymous 74/102 - 2
6-90390404-A-G c.12169T>C p.L4057= Synonymous 74/102 - 1
6-90390406-C-T c.12167G>A p.R4056H Missense 74/102 - 1
6-90390407-G-A c.12166C>T p.R4056C Missense 74/102 - 3
6-90390410-G-A c.12163C>T p.R4055C Missense 74/102 - 4
6-90390430-C-A c.12143G>T p.G4048V Missense 74/102 - 4
6-90390435-AG-A c.12137del p.P4046Lfs*19 Frameshift 74/102 - 3
6-90390438-GA-G c.12135del p.P4046Lfs*19 Frameshift 74/102 - 1
6-90390440-GCAGCGCCCT-G c.12125_12133del p.Q4042_A4045delinsP MultiAAMissense 74/102 - 4
6-90390437-GAGC-G c.12133_12135del p.A4045del InFrameDeletion 74/102 - 1
6-90390441-A-C c.12132T>G p.A4044= Synonymous 74/102 - 2
6-90390441-A-G c.12132T>C p.A4044= Synonymous 74/102 - 2
6-90390441-A-T c.12132T>A p.A4044= Synonymous 74/102 - 2
6-90390443-C-A c.12130G>T p.A4044S Missense 74/102 - 40
6-90390443-C-G c.12130G>C p.A4044P Missense 74/102 - 5
6-90390443-C-T c.12130G>A p.A4044T Missense 74/102 - 5
6-90390447-C-A c.12126G>T p.Q4042H Missense 74/102 - 1
6-90390458-C-G c.12115G>C p.E4039Q Missense 74/102 - 2
6-90390552-A-G c.12103-82T>C - IntronicSNV - 73/101 1
6-90392430-A-C c.12102+421T>G - IntronicSNV - 73/101 1
6-90392432-A-C c.12102+419T>G - IntronicSNV - 73/101 1
6-90392436-A-C c.12102+415T>G - IntronicSNV - 73/101 1
6-90392595-G-T c.12102+256C>A - IntronicSNV - 73/101 1
6-90392854-C-A c.12099G>T p.G4033= Synonymous 73/102 - 1
6-90392858-G-A c.12095C>T p.A4032V Missense 73/102 - 2
6-90392859-C-T c.12094G>A p.A4032T Missense 73/102 - 1
6-90392867-T-C c.12086A>G p.Q4029R Missense 73/102 - 1
6-90392869-G-A c.12084C>T p.A4028= Synonymous 73/102 - 1
6-90392882-T-C c.12071A>G p.E4024G Missense 73/102 - 1
6-90392887-C-T c.12066G>A p.L4022= Synonymous 73/102 - 1
6-90392888-A-C c.12065T>G p.L4022R Missense 73/102 - 1
6-90392893-C-T c.12060G>A p.R4020= Synonymous 73/102 - 1
6-90392899-C-A c.12054G>T p.L4018= Synonymous 73/102 - 1
6-90392899-C-G c.12054G>C p.L4018= Synonymous 73/102 - 1
6-90392899-C-T c.12054G>A p.L4018= Synonymous 73/102 - 1
6-90392901-G-A c.12052C>T p.L4018= Synonymous 73/102 - 1
6-90392901-G-T c.12052C>A p.L4018M Missense 73/102 - 1
6-90392925-T-A c.12028A>T p.S4010C Missense 73/102 - 4
6-90392939-G-A c.12014C>T p.T4005I Missense 73/102 - 1
6-90392944-C-G c.12009G>C p.R4003S Missense 73/102 - 1
6-90392951-A-C c.12002T>G p.L4001W Missense 73/102 - 1
6-90392953-A-C c.12000T>G p.F4000L Missense 73/102 - 1
6-90392953-A-T c.12000T>A p.F4000L Missense 73/102 - 1
6-90392955-A-G c.11998T>C p.F4000L Missense 73/102 - 1
6-90392965-T-A c.11988A>T p.E3996D Missense 73/102 - 1
6-90392965-T-G c.11988A>C p.E3996D Missense 73/102 - 2
6-90392967-C-G c.11986G>C p.E3996Q Missense 73/102 - 5
6-90392973-T-G c.11980A>C p.K3994Q Missense 73/102 - 1
6-90392986-C-G c.11967G>C p.L3989= Synonymous 73/102 - 1
6-90392990-G-A c.11963C>T p.S3988F Missense 73/102 - 2
6-90392990-G-C c.11963C>G p.S3988C Missense 73/102 - 1
6-90392993-G-C c.11960C>G p.S3987* Nonsense 73/102 - 1
6-90392993-G-T c.11960C>A p.S3987* Nonsense 73/102 - 1
6-90392996-C-A c.11957G>T p.R3986L Missense 73/102 - 2
6-90392996-C-T c.11957G>A p.R3986Q Missense 73/102 - 4
6-90392997-G-A c.11956C>T p.R3986W Missense 73/102 - 1
6-90393023-A-G c.11930T>C p.F3977S Missense 73/102 - 1
6-90393025-T-C c.11928A>G p.K3976= Synonymous 73/102 - 1
6-90393028-C-G c.11925G>C p.K3975N Missense 73/102 - 1
6-90393038-T-G c.11915A>C p.K3972T Missense 73/102 - 1
6-90393043-G-T c.11910C>A p.L3970= Synonymous 73/102 - 1
6-90393483-G-A c.11903+67C>T - IntronicSNV - 72/101 2
6-90393562-T-C c.11891A>G p.E3964G Missense 72/102 - 1
6-90393582-C-T c.11871G>A p.W3957* Nonsense 72/102 - 1
6-90393583-C-T c.11870G>A p.W3957* Nonsense 72/102 - 1
6-90393584-A-C c.11869T>G p.W3957G Missense 72/102 - 1
6-90393604-T-C c.11849A>G p.K3950R Missense 72/102 - 1
6-90393608-A-T c.11845T>A p.S3949T Missense 72/102 - 1
6-90393609-A-G c.11844T>C p.I3948= Synonymous 72/102 - 1
6-90393609-A-T c.11844T>A p.I3948= Synonymous 72/102 - 1
6-90393614-T-C c.11839A>G p.K3947E Missense 72/102 - 2
6-90393619-A-C c.11834T>G p.F3945C Missense 72/102 - 1
6-90393622-T-A c.11831A>T p.E3944V Missense 72/102 - 1
6-90393766-A-G c.11830-143T>C - IntronicSNV - 71/101 1
6-90393954-C-G c.11830-331G>C - IntronicSNV - 71/101 1
6-90393954-C-T c.11830-331G>A - IntronicSNV - 71/101 1
6-90394597-T-G c.11827A>C p.K3943Q Missense 71/102 - 1
6-90394603-C-A c.11821G>T p.E3941* Nonsense 71/102 - 3
6-90394603-C-G c.11821G>C p.E3941Q Missense 71/102 - 1
6-90394612-G-A c.11812C>T p.L3938= Synonymous 71/102 - 3
6-90394614-G-A c.11810C>T p.P3937L Missense 71/102 - 2
6-90394614-G-C c.11810C>G p.P3937R Missense 71/102 - 1
6-90394617-G-A c.11807C>T p.S3936F Missense 71/102 - 2
6-90394621-G-A c.11803C>T p.R3935C Missense 71/102 - 4
6-90394627-C-G c.11797G>C p.E3933Q Missense 71/102 - 1
6-90394644-A-C c.11780T>G p.V3927G Missense 71/102 - 1
6-90394647-C-T c.11777G>A p.R3926Q Missense 71/102 - 2
6-90394655-G-C c.11769C>G p.F3923L Missense 71/102 - 7
6-90394655-G-T c.11769C>A p.F3923L Missense 71/102 - 6
6-90394657-A-G c.11767T>C p.F3923L Missense 71/102 - 6
6-90394665-T-C c.11759A>G p.Y3920C Missense 71/102 - 1
6-90394685-T-A c.11739A>T p.L3913= Synonymous 71/102 - 1
6-90394685-T-C c.11739A>G p.L3913= Synonymous 71/102 - 2
6-90394685-T-G c.11739A>C p.L3913= Synonymous 71/102 - 1
6-90394687-G-A c.11737C>T p.L3913= Synonymous 71/102 - 1
6-90394692-C-T c.11732G>A p.S3911N Missense 71/102 - 1
6-90395547-C-A c.11718G>T p.K3906N Missense 70/102 - 2
6-90395547-C-G c.11718G>C p.K3906N Missense 70/102 - 2
6-90395551-C-G c.11714G>C p.G3905A Missense 70/102 - 1
6-90395552-C-G c.11713G>C p.G3905R Missense 70/102 - 1
6-90395552-C-T c.11713G>A p.G3905R Missense 70/102 - 2
6-90395576-C-T c.11689G>A p.V3897I Missense 70/102 - 2
6-90395586-G-A c.11679C>T p.F3893= Synonymous 70/102 - 2
6-90395590-AC-A c.11674del p.V3892Ffs*8 Frameshift 70/102 - 1
6-90395603-G-A c.11662C>T p.Q3888* Nonsense 70/102 - 1
6-90395609-CGCACATGG-C c.11649_11656del p.F3883Lfs*19 Frameshift 70/102 - 1
6-90395611-A-G c.11654T>C p.V3885A Missense 70/102 - 3
6-90395614-T-C c.11651A>G p.H3884R Missense 70/102 - 1
6-90395628-C-A c.11637G>T p.S3879= Synonymous 70/102 - 1
6-90395628-C-G c.11637G>C p.S3879= Synonymous 70/102 - 1
6-90395628-C-T c.11637G>A p.S3879= Synonymous 70/102 - 1
6-90395629-G-A c.11636C>T p.S3879L Missense 70/102 - 1
6-90395630-A-C c.11635T>G p.S3879A Missense 70/102 - 1
6-90395632-G-A c.11633C>T p.S3878F Missense 70/102 - 1
6-90395634-T-C c.11631A>G p.G3877= Synonymous 70/102 - 1
6-90395642-T-A c.11623A>T p.I3875F Missense 70/102 - 1
6-90395651-G-C c.11614C>G p.Q3872E Missense 70/102 - 1
6-90395655-T-G c.11610A>C p.T3870= Synonymous 70/102 - 1
6-90395664-C-T c.11601G>A p.L3867= Synonymous 70/102 - 1
6-90395673-C-CA c.11591dup p.L3864Ffs*13 Frameshift 70/102 - 1
6-90395677-G-A c.11588C>T p.T3863I Missense 70/102 - 3
6-90395678-T-C c.11587A>G p.T3863A Missense 70/102 - 1
6-90395683-T-A c.11582A>T p.Q3861L Missense 70/102 - 1
6-90396626-T-C c.11567A>G p.Q3856R Missense 69/102 - 1
6-90396644-T-C c.11549A>G p.Q3850R Missense 69/102 - 1
6-90396655-C-T c.11538G>A p.E3846= Synonymous 69/102 - 1
6-90396657-C-G c.11536G>C p.E3846Q Missense 69/102 - 1
6-90396666-G-C c.11527C>G p.Q3843E Missense 69/102 - 1
6-90396686-T-C c.11507A>G p.K3836R Missense 69/102 - 1
6-90396689-G-A c.11504C>T p.T3835I Missense 69/102 - 1
6-90396692-G-A c.11501C>T p.S3834F Missense 69/102 - 1
6-90396697-C-A c.11496G>T p.E3832D Missense 69/102 - 2
6-90396697-C-T c.11496G>A p.E3832= Synonymous 69/102 - 1
6-90396699-C-T c.11494G>A p.E3832K Missense 69/102 - 1
6-90396700-G-A c.11493C>T p.T3831= Synonymous 69/102 - 2
6-90396700-G-C c.11493C>G p.T3831= Synonymous 69/102 - 1
6-90396700-G-T c.11493C>A p.T3831= Synonymous 69/102 - 1
6-90396703-G-A c.11490C>T p.H3830= Synonymous 69/102 - 1
6-90396707-C-T c.11486G>A p.R3829H Missense 69/102 - 1
6-90396708-G-A c.11485C>T p.R3829C Missense 69/102 - 1
6-90396708-G-T c.11485C>A p.R3829S Missense 69/102 - 1
6-90396714-T-C c.11479A>G p.M3827V Missense 69/102 - 1
6-90396723-C-T c.11470G>A p.D3824N Missense 69/102 - 1
6-90396732-T-C c.11461A>G p.M3821V Missense 69/102 - 2
6-90397067-G-A c.11446C>T p.L3816= Synonymous 68/102 - 1
6-90397070-C-T c.11443G>A p.E3815K Missense 68/102 - 1
6-90397078-C-T c.11435G>A p.R3812H Missense 68/102 - 1
6-90397080-C-A c.11433G>T p.W3811C Missense 68/102 - 1
6-90397082-A-G c.11431T>C p.W3811R Missense 68/102 - 3
6-90397084-C-T c.11429G>A p.R3810Q Missense 68/102 - 1
6-90397085-G-A c.11428C>T p.R3810W Missense 68/102 - 2
6-90397089-G-A c.11424C>T p.I3808= Synonymous 68/102 - 1
6-90397092-C-A c.11421G>T p.M3807I Missense 68/102 - 1
6-90397092-C-G c.11421G>C p.M3807I Missense 68/102 - 1
6-90397092-C-T c.11421G>A p.M3807I Missense 68/102 - 2
6-90397097-G-A c.11416C>T p.Q3806* Nonsense 68/102 - 4
6-90397103-T-C c.11410A>G p.I3804V Missense 68/102 - 1
6-90397109-C-G c.11404G>C p.D3802H Missense 68/102 - 1
6-90397119-C-T c.11394G>A p.R3798= Synonymous 68/102 - 1
6-90397120-C-A c.11393G>T p.R3798L Missense 68/102 - 2
6-90397120-C-T c.11393G>A p.R3798Q Missense 68/102 - 4
6-90397121-G-A c.11392C>T p.R3798W Missense 68/102 - 4
6-90397121-G-T c.11392C>A p.R3798= Synonymous 68/102 - 2
6-90397122-C-A c.11391G>T p.L3797F Missense 68/102 - 1
6-90397122-C-G c.11391G>C p.L3797F Missense 68/102 - 1
6-90397123-AA-GG c.11389_11390delinsCC p.L3797P Missense 68/102 - 1
6-90397131-A-C c.11382T>G p.A3794= Synonymous 68/102 - 1
6-90397131-A-G c.11382T>C p.A3794= Synonymous 68/102 - 1
6-90397131-A-T c.11382T>A p.A3794= Synonymous 68/102 - 1
6-90397132-G-C c.11381C>G p.A3794G Missense 68/102 - 19
6-90397135-C-T c.11378G>A p.R3793Q Missense 68/102 - 1
6-90397136-G-A c.11377C>T p.R3793* Nonsense 68/102 - 2
6-90397797-C-A c.11355G>T p.Q3785H Missense 67/102 - 1
6-90397797-C-G c.11355G>C p.Q3785H Missense 67/102 - 1
6-90397802-C-A c.11350G>T p.A3784S Missense 67/102 - 1
6-90397807-G-A c.11345C>T p.A3782V Missense 67/102 - 2
6-90397814-G-A c.11338C>T p.L3780F Missense 67/102 - 3
6-90397818-C-T c.11334G>A p.E3778= Synonymous 67/102 - 1
6-90397820-C-G c.11332G>C p.E3778Q Missense 67/102 - 1
6-90397829-T-C c.11323A>G p.N3775D Missense 67/102 - 2
6-90397846-G-A c.11306C>T p.P3769L Missense 67/102 - 1
6-90397847-G-A c.11305C>T p.P3769S Missense 67/102 - 3
6-90397851-G-T c.11301C>A p.S3767= Synonymous 67/102 - 2
6-90397855-A-G c.11297T>C p.L3766P Missense 67/102 - 1
6-90397860-G-A c.11292C>T p.F3764= Synonymous 67/102 - 3
6-90397863-A-G c.11289T>C p.S3763= Synonymous 67/102 - 1
6-90397867-C-T c.11285G>A p.R3762H Missense 67/102 - 2
6-90397868-CG-C c.11284del p.R3762Vfs*13 Frameshift 67/102 - 1
6-90397868-G-A c.11284C>T p.R3762C Missense 67/102 - 9
6-90397870-A-C c.11282T>G p.I3761S Missense 67/102 - 2
6-90397875-G-C c.11277C>G p.D3759E Missense 67/102 - 1
6-90397882-A-C c.11270T>G p.V3757G Missense 67/102 - 1
6-90397885-A-G c.11267T>C p.V3756A Missense 67/102 - 1
6-90397889-G-T c.11263C>A p.L3755M Missense 67/102 - 1
6-90398011-G-GAA c.11260-121_11260-120dup - IntronicInsertion - 66/101 2
6-90398011-G-GA c.11260-120dup - IntronicInsertion - 66/101 2
6-90398197-T-A c.11259+95A>T - IntronicSNV - 66/101 5
6-90398197-T-C c.11259+95A>G - IntronicSNV - 66/101 7
6-90398258-A-T c.11259+34T>A - IntronicSNV - 66/101 1
6-90398302-G-A c.11249C>T p.A3750V Missense 66/102 - 6
6-90398303-C-T c.11248G>A p.A3750T Missense 66/102 - 1
6-90398310-T-A c.11241A>T p.E3747D Missense 66/102 - 2
6-90398336-T-C c.11215A>G p.S3739G Missense 66/102 - 1
6-90398341-G-C c.11210C>G p.A3737G Missense 66/102 - 1
6-90398343-C-A c.11208G>T p.E3736D Missense 66/102 - 3
6-90398343-C-G c.11208G>C p.E3736D Missense 66/102 - 1
6-90398345-C-T c.11206G>A p.E3736K Missense 66/102 - 2
6-90398348-A-G c.11203T>C p.S3735P Missense 66/102 - 2
6-90398349-G-A c.11202C>T p.F3734= Synonymous 66/102 - 4
6-90398353-C-G c.11198G>C p.G3733A Missense 66/102 - 1
6-90398365-G-A c.11186C>T p.P3729L Missense 66/102 - 1
6-90398377-C-T c.11174G>A p.R3725Q Missense 66/102 - 4
6-90398378-G-A c.11173C>T p.R3725W Missense 66/102 - 2
6-90398383-T-G c.11168A>C p.E3723A Missense 66/102 - 1
6-90398385-CTGG-C c.11164_11166del p.P3722del InFrameDeletion 66/102 - 1
6-90398396-G-A c.11155C>T p.P3719S Missense 66/102 - 2
6-90398396-G-T c.11155C>A p.P3719T Missense 66/102 - 2
6-90398401-T-C c.11150A>G p.Q3717R Missense 66/102 - 2
6-90398415-G-A c.11136C>T p.P3712= Synonymous 66/102 - 1
6-90398415-G-C c.11136C>G p.P3712= Synonymous 66/102 - 1
6-90398415-G-T c.11136C>A p.P3712= Synonymous 66/102 - 1
6-90398425-G-A c.11126C>T p.P3709L Missense 66/102 - 1
6-90398430-C-A c.11121G>T p.V3707= Synonymous 66/102 - 1
6-90398430-C-G c.11121G>C p.V3707= Synonymous 66/102 - 1
6-90398430-C-T c.11121G>A p.V3707= Synonymous 66/102 - 2
6-90398434-A-G c.11117T>C p.M3706T Missense 66/102 - 1
6-90398437-A-G c.11114T>C p.L3705P Missense 66/102 - 1
6-90398438-G-A c.11113C>T p.L3705= Synonymous 66/102 - 1
6-90398439-G-A c.11112C>T p.D3704= Synonymous 66/102 - 1
6-90398443-G-T c.11108C>A p.S3703* Nonsense 66/102 - 1
6-90398452-TC-T c.11098del p.E3700Rfs*6 Frameshift 66/102 - 1
6-90398464-G-A c.11087C>T p.T3696I Missense 66/102 - 1
6-90398491-A-G c.11060T>C p.L3687P Missense 66/102 - 1
6-90399594-A-AG c.11017dup p.L3673Pfs*5 Frameshift 65/102 - 2
6-90399610-T-G c.11002A>C p.T3668P Missense 65/102 - 1
6-90399644-A-C c.10968T>G p.F3656L Missense 65/102 - 1
6-90399644-A-T c.10968T>A p.F3656L Missense 65/102 - 1
6-90399646-A-G c.10966T>C p.F3656L Missense 65/102 - 2
6-90399656-G-C c.10956C>G p.Y3652* Nonsense 65/102 - 1
6-90399656-G-T c.10956C>A p.Y3652* Nonsense 65/102 - 1
6-90399676-G-A c.10936C>T p.P3646S Missense 65/102 - 1
6-90399677-C-A c.10935G>T p.P3645= Synonymous 65/102 - 1
6-90399677-C-G c.10935G>C p.P3645= Synonymous 65/102 - 1
6-90399677-C-T c.10935G>A p.P3645= Synonymous 65/102 - 1
6-90399678-G-A c.10934C>T p.P3645L Missense 65/102 - 1
6-90399679-G-A c.10933C>T p.P3645S Missense 65/102 - 1
6-90399680-CAG-GAT c.10930_10932delinsATC p.L3644I Missense 65/102 - 1
6-90399684-G-A c.10928C>T p.T3643I Missense 65/102 - 2
6-90399691-G-C c.10921C>G p.Q3641E Missense 65/102 - 1
6-90399691-G-T c.10921C>A p.Q3641K Missense 65/102 - 1
6-90399693-T-C c.10919A>G p.Y3640C Missense 65/102 - 1
6-90399727-G-A c.10885C>T p.Q3629* Nonsense 65/102 - 1
6-90399736-T-A c.10876A>T p.I3626L Missense 65/102 - 1
6-90399736-T-G c.10876A>C p.I3626L Missense 65/102 - 1
6-90399751-G-A c.10861C>T p.Q3621* Nonsense 65/102 - 1
6-90399761-C-A c.10851G>T p.Q3617H Missense 65/102 - 1
6-90399767-G-A c.10845C>T p.L3615= Synonymous 65/102 - 1
6-90399767-G-C c.10845C>G p.L3615= Synonymous 65/102 - 1
6-90399767-G-T c.10845C>A p.L3615= Synonymous 65/102 - 1
6-90399785-G-A c.10827C>T p.G3609= Synonymous 65/102 - 1
6-90399796-C-T c.10816G>A p.E3606K Missense 65/102 - 1
6-90399799-C-T c.10813G>A p.E3605K Missense 65/102 - 6
6-90399813-G-A c.10799C>T p.T3600I Missense 65/102 - 1
6-90399816-C-A c.10796G>T p.G3599V Missense 65/102 - 1
6-90399824-C-G c.10788G>C p.E3596D Missense 65/102 - 1
6-90399829-C-T c.10783G>A p.E3595K Missense 65/102 - 1
6-90399837-G-T c.10775C>A p.P3592Q Missense 65/102 - 1
6-90399839-C-T c.10773G>A p.Q3591= Synonymous 65/102 - 1
6-90399840-T-A c.10772A>T p.Q3591L Missense 65/102 - 2
6-90399856-C-A c.10756G>T p.A3586S Missense 65/102 - 1
6-90400292-C-A c.10749+100G>T - IntronicSNV - 64/101 2
6-90400292-C-G c.10749+100G>C - IntronicSNV - 64/101 2
6-90400292-C-T c.10749+100G>A - IntronicSNV - 64/101 4
6-90400336-ATGTATATGGCATCAAGGGAATTCATTCCAAAACACACCCTGCCATCACTGCTCTACCTT-A c.10747_10749+56del - SpliceDonorDeletion 64/102 64/101 1
6-90400405-GG-AA c.10735_10736delinsTT p.P3579F Missense 64/102 - 1
6-90400402-AG-A c.10738del p.L3580Cfs*44 Frameshift 64/102 - 1
6-90400416-T-C c.10725A>G p.R3575= Synonymous 64/102 - 2
6-90400419-G-T c.10722C>A p.F3574L Missense 64/102 - 4
6-90400419-G-C c.10722C>G p.F3574L Missense 64/102 - 3
6-90400421-A-G c.10720T>C p.F3574L Missense 64/102 - 3
6-90400426-C-T c.10715G>A p.R3572Q Missense 64/102 - 1
6-90400427-G-A c.10714C>T p.R3572W Missense 64/102 - 1
6-90400436-C-T c.10705G>A p.E3569K Missense 64/102 - 6
6-90400442-C-T c.10699G>A p.E3567K Missense 64/102 - 2
6-90400447-C-G c.10694G>C p.S3565T Missense 64/102 - 1
6-90400449-C-A c.10692G>T p.L3564= Synonymous 64/102 - 3
6-90400449-C-G c.10692G>C p.L3564= Synonymous 64/102 - 4
6-90400449-C-T c.10692G>A p.L3564= Synonymous 64/102 - 4
6-90400451-G-A c.10690C>T p.L3564= Synonymous 64/102 - 3
6-90400457-T-C c.10684A>G p.T3562A Missense 64/102 - 1
6-90400458-C-T c.10683G>A p.R3561= Synonymous 64/102 - 2
6-90400460-T-G c.10681A>C p.R3561= Synonymous 64/102 - 1
6-90400467-C-T c.10674G>A p.R3558= Synonymous 64/102 - 2
6-90400469-T-G c.10672A>C p.R3558= Synonymous 64/102 - 1
6-90400469-T-C c.10672A>G p.R3558G Missense 64/102 - 1
6-90400472-T-A c.10669A>T p.S3557C Missense 64/102 - 2
6-90400483-T-C c.10658A>G p.Y3553C Missense 64/102 - 1
6-90400489-C-G c.10652G>C p.G3551A Missense 64/102 - 1
6-90400490-C-T c.10651G>A p.G3551S Missense 64/102 - 2
6-90400505-C-A c.10636G>T p.A3546S Missense 64/102 - 1
6-90400514-G-A c.10627C>T p.Q3543* Nonsense 64/102 - 1
6-90400515-G-A c.10626C>T p.A3542= Synonymous 64/102 - 1
6-90400523-G-A c.10618C>T p.R3540C Missense 64/102 - 2
6-90400532-C-G c.10609G>C p.E3537Q Missense 64/102 - 2
6-90400538-A-T c.10603T>A p.W3535R Missense 64/102 - 1
6-90400553-C-T c.10588G>A p.E3530K Missense 64/102 - 1
6-90402184-T-G c.10565A>C p.Q3522P Missense 63/102 - 1
6-90402185-G-A c.10564C>T p.Q3522* Nonsense 63/102 - 1
6-90402195-C-A c.10554G>T p.Q3518H Missense 63/102 - 1
6-90402195-C-G c.10554G>C p.Q3518H Missense 63/102 - 1
6-90402198-G-C c.10551C>G p.D3517E Missense 63/102 - 2
6-90402198-G-T c.10551C>A p.D3517E Missense 63/102 - 1
6-90402199-GT-G c.10550del p.D3517Afs*25 Frameshift 63/102 - 2
6-90402199-T-A c.10550A>T p.D3517V Missense 63/102 - 3
6-90402200-C-CA c.10548_10549insT p.D3517* Nonsense 63/102 - 1
6-90402221-C-T c.10528G>A p.V3510M Missense 63/102 - 4
6-90402222-G-A c.10527C>T p.H3509= Synonymous 63/102 - 3
6-90402224-G-T c.10525C>A p.H3509N Missense 63/102 - 1
6-90402225-G-A c.10524C>T p.S3508= Synonymous 63/102 - 1
6-90402226-G-A c.10523C>T p.S3508F Missense 63/102 - 1
6-90402228-AG-A c.10521del p.S3508Pfs*34 Frameshift 63/102 - 2
6-90402230-G-A c.10519C>T p.R3507C Missense 63/102 - 8
6-90402230-G-T c.10519C>A p.R3507S Missense 63/102 - 1
6-90402250-A-T c.10499T>A p.M3500K Missense 63/102 - 3
6-90402254-G-A c.10495C>T p.L3499= Synonymous 63/102 - 1
6-90402254-G-T c.10495C>A p.L3499M Missense 63/102 - 1
6-90402255-C-A c.10494G>T p.L3498= Synonymous 63/102 - 1
6-90402255-C-G c.10494G>C p.L3498= Synonymous 63/102 - 1
6-90402255-C-T c.10494G>A p.L3498= Synonymous 63/102 - 1
6-90402257-G-A c.10492C>T p.L3498= Synonymous 63/102 - 1
6-90402260-G-C c.10489C>G p.Q3497E Missense 63/102 - 1
6-90402265-C-T c.10484G>A p.R3495Q Missense 63/102 - 2
6-90402266-G-A c.10483C>T p.R3495W Missense 63/102 - 1
6-90402271-G-T c.10478C>A p.P3493H Missense 63/102 - 2
6-90402272-G-A c.10477C>T p.P3493S Missense 63/102 - 4
6-90402277-G-A c.10472C>T p.A3491V Missense 63/102 - 2
6-90402282-C-T c.10467G>A p.Q3489= Synonymous 63/102 - 1
6-90402292-C-G c.10457G>C p.G3486A Missense 63/102 - 7
6-90402296-C-G c.10453G>C p.E3485Q Missense 63/102 - 1
6-90402306-TCC-GCT c.10441_10443delinsAGC p.G3481S Missense 63/102 - 1
6-90402307-C-T c.10442G>A p.G3481E Missense 63/102 - 1
6-90402313-G-C c.10436C>G p.S3479* Nonsense 63/102 - 3
6-90402313-G-T c.10436C>A p.S3479* Nonsense 63/102 - 2
6-90402321-G-A c.10428C>T p.L3476= Synonymous 63/102 - 1
6-90402324-G-A c.10425C>T p.I3475= Synonymous 63/102 - 2
6-90402343-C-T c.10406G>A p.R3469Q Missense 63/102 - 3
6-90402344-G-A c.10405C>T p.R3469* Nonsense 63/102 - 4
6-90402347-G-C c.10402C>G p.L3468V Missense 63/102 - 3
6-90402355-T-A c.10394A>T p.E3465V Missense 63/102 - 1
6-90402358-G-A c.10391C>T p.S3464F Missense 63/102 - 1
6-90402360-C-T c.10389G>A p.K3463= Synonymous 63/102 - 1
6-90402370-CA-GT c.10378_10379delinsAC p.C3460T Missense 63/102 - 1
6-90402371-A-G c.10378T>C p.C3460R Missense 63/102 - 1
6-90402372-C-A c.10377G>T p.L3459F Missense 63/102 - 2
6-90402372-C-G c.10377G>C p.L3459F Missense 63/102 - 1
6-90402380-C-T c.10369G>A p.D3457N Missense 63/102 - 2
6-90402400-G-A c.10349C>T p.P3450L Missense 63/102 - 2
6-90402400-G-T c.10349C>A p.P3450Q Missense 63/102 - 1
6-90402402-G-A c.10347C>T p.F3449= Synonymous 63/102 - 1
6-90402405-GG-CA c.10343_10344delinsTG p.T3448M Missense 63/102 - 1
6-90402406-G-A c.10343C>T p.T3448I Missense 63/102 - 1
6-90402407-T-C c.10342A>G p.T3448A Missense 63/102 - 1
6-90402409-G-A c.10340C>T p.P3447L Missense 63/102 - 2
6-90402418-G-A c.10331C>T p.S3444L Missense 63/102 - 1
6-90402423-G-A c.10326C>T p.F3442= Synonymous 63/102 - 3
6-90402438-TGT-ACA c.10309_10311inv p.T3437C Missense 63/102 - 1
6-90402439-G-A c.10310C>T p.T3437I Missense 63/102 - 1
6-90402442-G-A c.10307C>T p.A3436V Missense 63/102 - 3
6-90402461-C-G c.10288G>C p.D3430H Missense 63/102 - 1
6-90402464-C-T c.10285G>A p.A3429T Missense 63/102 - 1
6-90402466-C-T c.10283G>A p.G3428D Missense 63/102 - 1
6-90402478-C-A c.10271G>T p.S3424I Missense 63/102 - 1
6-90402480-G-A c.10269C>T p.H3423= Synonymous 63/102 - 2
6-90402481-T-G c.10268A>C p.H3423P Missense 63/102 - 1
6-90402482-G-A c.10267C>T p.H3423Y Missense 63/102 - 40
6-90402487-G-A c.10262C>T p.S3421L Missense 63/102 - 5
6-90402489-G-A c.10260C>T p.T3420= Synonymous 63/102 - 1
6-90402492-G-A c.10257C>T p.H3419= Synonymous 63/102 - 1
6-90402494-G-A c.10255C>T p.H3419Y Missense 63/102 - 5
6-90402505-G-A c.10244C>T p.A3415V Missense 63/102 - 1
6-90402520-C-T c.10229G>A p.G3410D Missense 63/102 - 1
6-90402532-T-C c.10217A>G p.Q3406R Missense 63/102 - 1
6-90402533-G-A c.10216C>T p.Q3406* Nonsense 63/102 - 1
6-90402541-G-A c.10208C>T p.S3403F Missense 63/102 - 2
6-90402556-C-A c.10193G>T p.S3398I Missense 63/102 - 1
6-90402560-C-T c.10189G>A p.V3397M Missense 63/102 - 3
6-90402561-G-A c.10188C>T p.A3396= Synonymous 63/102 - 4
6-90402569-G-A c.10180C>T p.P3394S Missense 63/102 - 1
6-90402580-T-C c.10169A>G p.Y3390C Missense 63/102 - 1
6-90402601-C-T c.10148G>A p.R3383Q Missense 63/102 - 2
6-90402602-G-A c.10147C>T p.R3383W Missense 63/102 - 1
6-90402612-G-A c.10137C>T p.H3379= Synonymous 63/102 - 1
6-90402633-C-A c.10116G>T p.E3372D Missense 63/102 - 1
6-90402633-C-G c.10116G>C p.E3372D Missense 63/102 - 1
6-90402633-C-T c.10116G>A p.E3372= Synonymous 63/102 - 2
6-90402637-T-G c.10112A>C p.E3371A Missense 63/102 - 1
6-90402638-C-T c.10111G>A p.E3371K Missense 63/102 - 1
6-90402659-C-T c.10090G>A p.V3364I Missense 63/102 - 1
6-90402667-G-C c.10082C>G p.S3361C Missense 63/102 - 2
6-90402670-C-T c.10079G>A p.R3360Q Missense 63/102 - 1
6-90402671-G-A c.10078C>T p.R3360W Missense 63/102 - 1
6-90402671-G-C c.10078C>G p.R3360G Missense 63/102 - 2
6-90402674-G-T c.10075C>A p.P3359T Missense 63/102 - 1
6-90402692-C-T c.10057G>A p.A3353T Missense 63/102 - 1
6-90402708-G-A c.10041C>T p.L3347= Synonymous 63/102 - 3
6-90402708-G-C c.10041C>G p.L3347= Synonymous 63/102 - 2
6-90402708-G-T c.10041C>A p.L3347= Synonymous 63/102 - 1
6-90402709-A-C c.10040T>G p.L3347R Missense 63/102 - 1
6-90402711-C-T c.10038G>A p.L3346= Synonymous 63/102 - 1
6-90402717-C-T c.10032G>A p.Q3344= Synonymous 63/102 - 1
6-90402730-G-A c.10019C>T p.A3340V Missense 63/102 - 3
6-90402737-C-T c.10012G>A p.A3338T Missense 63/102 - 1
6-90402738-G-A c.10011C>T p.I3337= Synonymous 63/102 - 1
6-90402747-G-C c.10002C>G p.V3334= Synonymous 63/102 - 1
6-90402748-A-G c.10001T>C p.V3334A Missense 63/102 - 1
6-90402749-C-T c.10000G>A p.V3334I Missense 63/102 - 1
6-90402750-G-A c.9999C>T p.Y3333= Synonymous 63/102 - 1
6-90402760-A-T c.9989T>A p.I3330N Missense 63/102 - 2
6-90402767-G-C c.9982C>G p.Q3328E Missense 63/102 - 1
6-90402771-C-A c.9978G>T p.L3326= Synonymous 63/102 - 1
6-90402771-C-G c.9978G>C p.L3326= Synonymous 63/102 - 1
6-90402771-C-T c.9978G>A p.L3326= Synonymous 63/102 - 1
6-90402773-G-A c.9976C>T p.L3326= Synonymous 63/102 - 1
6-90402775-G-A c.9974C>T p.S3325F Missense 63/102 - 3
6-90402777-C-T c.9972G>A p.E3324= Synonymous 63/102 - 1
6-90402779-C-T c.9970G>A p.E3324K Missense 63/102 - 1
6-90402780-G-A c.9969C>T p.Y3323= Synonymous 63/102 - 2
6-90402788-G-T c.9961C>A p.P3321T Missense 63/102 - 1
6-90402792-C-T c.9957G>A p.Q3319= Synonymous 63/102 - 4
6-90402799-C-G c.9950G>C p.R3317T Missense 63/102 - 1
6-90402799-C-T c.9950G>A p.R3317K Missense 63/102 - 1
6-90402804-G-A c.9945C>T p.A3315= Synonymous 63/102 - 1
6-90402804-G-C c.9945C>G p.A3315= Synonymous 63/102 - 1
6-90402804-G-T c.9945C>A p.A3315= Synonymous 63/102 - 1
6-90402805-G-C c.9944C>G p.A3315G Missense 63/102 - 1
6-90402808-T-C c.9941A>G p.Q3314R Missense 63/102 - 1
6-90402813-C-T c.9936G>A p.K3312= Synonymous 63/102 - 3
6-90402823-T-C c.9926A>G p.H3309R Missense 63/102 - 1
6-90402839-C-G c.9910G>C p.D3304H Missense 63/102 - 1
6-90402839-C-T c.9910G>A p.D3304N Missense 63/102 - 1
6-90402840-C-A c.9909G>T p.L3303= Synonymous 63/102 - 21
6-90402840-C-G c.9909G>C p.L3303= Synonymous 63/102 - 21
6-90402840-C-T c.9909G>A p.L3303= Synonymous 63/102 - 16
6-90402842-G-A c.9907C>T p.L3303= Synonymous 63/102 - 3
6-90402844-C-T c.9905G>A p.R3302Q Missense 63/102 - 2
6-90402857-G-A c.9892C>T p.Q3298* Nonsense 63/102 - 1
6-90402858-GCG-TCA c.9889_9891delinsTGA p.R3297* Nonsense 63/102 - 1
6-90402859-C-T c.9890G>A p.R3297H Missense 63/102 - 2
6-90403593-T-C c.9881+200A>G - IntronicSNV - 62/101 1
6-90403606-C-T c.9881+187G>A - IntronicSNV - 62/101 2
6-90403797-C-T c.9877G>A p.V3293I Missense 62/102 - 1
6-90403808-G-A c.9866C>T p.S3289F Missense 62/102 - 1
6-90403821-C-T c.9853G>A p.V3285I Missense 62/102 - 4
6-90403822-G-A c.9852C>T p.V3284= Synonymous 62/102 - 1
6-90403822-G-T c.9852C>A p.V3284= Synonymous 62/102 - 1
6-90403827-C-A c.9847G>T p.E3283* Nonsense 62/102 - 1
6-90403833-C-G c.9841G>C p.E3281Q Missense 62/102 - 1
6-90403841-C-T c.9833G>A p.R3278K Missense 62/102 - 1
6-90403848-T-C c.9826A>G p.T3276A Missense 62/102 - 1
6-90403855-C-A c.9819G>T p.Q3273H Missense 62/102 - 2
6-90403855-C-G c.9819G>C p.Q3273H Missense 62/102 - 2
6-90403859-GA-TT c.9814_9815delinsAA p.S3272N Missense 62/102 - 1
6-90403863-A-G c.9811T>C p.S3271P Missense 62/102 - 1
6-90403870-C-T c.9804G>A p.R3268= Synonymous 62/102 - 1
6-90403871-C-T c.9803G>A p.R3268Q Missense 62/102 - 1
6-90403872-G-A c.9802C>T p.R3268W Missense 62/102 - 1
6-90403873-G-A c.9801C>T p.T3267= Synonymous 62/102 - 1
6-90403886-CA-GT c.9787_9788delinsAC p.C3263T Missense 62/102 - 1
6-90403890-G-A c.9784C>T p.Q3262* Nonsense 62/102 - 1
6-90403907-T-C c.9772-5A>G - IntronicSNV - 61/101 1
6-90405095-T-C c.9771+229A>G - IntronicSNV - 61/101 1
6-90405306-T-A c.9771+18A>T - IntronicSNV - 61/101 7
6-90405327-T-C c.9768A>G p.E3256= Synonymous 61/102 - 1
6-90405328-T-C c.9767A>G p.E3256G Missense 61/102 - 1
6-90405329-C-A c.9766G>T p.E3256* Nonsense 61/102 - 1
6-90405332-T-C c.9763A>G p.K3255E Missense 61/102 - 1
6-90405335-C-T c.9760G>A p.V3254I Missense 61/102 - 1
6-90405336-G-A c.9759C>T p.Y3253= Synonymous 61/102 - 3
6-90405337-T-C c.9758A>G p.Y3253C Missense 61/102 - 1
6-90405353-C-A c.9742G>T p.E3248* Nonsense 61/102 - 1
6-90405363-C-T c.9732G>A p.A3244= Synonymous 61/102 - 1
6-90405368-G-A c.9727C>T p.P3243S Missense 61/102 - 1
6-90405375-G-A c.9720C>T p.R3240= Synonymous 61/102 - 1
6-90405375-G-C c.9720C>G p.R3240= Synonymous 61/102 - 1
6-90405375-G-T c.9720C>A p.R3240= Synonymous 61/102 - 1
6-90405376-C-T c.9719G>A p.R3240H Missense 61/102 - 1
6-90405381-C-A c.9714G>T p.Q3238H Missense 61/102 - 1
6-90405381-C-G c.9714G>C p.Q3238H Missense 61/102 - 1
6-90405409-A-ATAATCACTCTGCTGTGTT c.9685_9686insAACACAGCAGAGTGATTA p.L3229delins* Nonsense 61/102 - 1
6-90405410-A-G c.9685T>C p.L3229= Synonymous 61/102 - 2
6-90405430-C-T c.9665G>A p.S3222N Missense 61/102 - 2
6-90405436-C-T c.9659G>A p.R3220H Missense 61/102 - 1
6-90405437-G-A c.9658C>T p.R3220C Missense 61/102 - 1
6-90405440-G-A c.9655C>T p.Q3219* Nonsense 61/102 - 1
6-90405449-C-G c.9646G>C p.E3216Q Missense 61/102 - 4
6-90405486-G-A c.9609C>T p.H3203= Synonymous 61/102 - 1
6-90405489-G-A c.9606C>T p.H3202= Synonymous 61/102 - 1
6-90405498-G-A c.9597C>T p.T3199= Synonymous 61/102 - 1
6-90405500-T-G c.9595A>C p.T3199P Missense 61/102 - 1
6-90405511-CA-GT c.9583_9584delinsAC p.C3195T Missense 61/102 - 1
6-90405522-C-A c.9573G>T p.K3191N Missense 61/102 - 1
6-90405522-C-G c.9573G>C p.K3191N Missense 61/102 - 1
6-90405534-C-T c.9561G>A p.E3187= Synonymous 61/102 - 1
6-90405541-C-T c.9554G>A p.G3185D Missense 61/102 - 1
6-90405550-T-A c.9545A>T p.D3182V Missense 61/102 - 1
6-90405559-G-A c.9536C>T p.T3179I Missense 61/102 - 1
6-90405571-T-C c.9524A>G p.H3175R Missense 61/102 - 1
6-90405571-T-G c.9524A>C p.H3175P Missense 61/102 - 3
6-90405582-C-A c.9513G>T p.Q3171H Missense 61/102 - 2
6-90405582-C-G c.9513G>C p.Q3171H Missense 61/102 - 1
6-90405588-G-C c.9507C>G p.S3169R Missense 61/102 - 1
6-90405588-G-T c.9507C>A p.S3169R Missense 61/102 - 1
6-90405590-T-G c.9505A>C p.S3169R Missense 61/102 - 1
6-90405593-C-A c.9502G>T p.G3168W Missense 61/102 - 3
6-90405598-A-T c.9497T>A p.L3166Q Missense 61/102 - 1
6-90405609-A-C c.9486T>G p.C3162W Missense 61/102 - 1
6-90405610-C-G c.9485G>C p.C3162S Missense 61/102 - 1
6-90405611-A-T c.9484T>A p.C3162S Missense 61/102 - 1
6-90405632-G-A c.9463C>T p.R3155W Missense 61/102 - 1
6-90405633-C-T c.9462G>A p.R3154= Synonymous 61/102 - 1
6-90405634-C-T c.9461G>A p.R3154Q Missense 61/102 - 1
6-90405637-G-A c.9458C>T p.S3153F Missense 61/102 - 5
6-90405647-G-C c.9448C>G p.L3150V Missense 61/102 - 1
6-90405658-A-G c.9437T>C p.L3146P Missense 61/102 - 1
6-90405664-G-C c.9431C>G p.A3144G Missense 61/102 - 1
6-90405673-C-T c.9422G>A p.R3141Q Missense 61/102 - 4
6-90405672-C-T c.9423G>A p.R3141= Synonymous 61/102 - 1
6-90405674-G-A c.9421C>T p.R3141W Missense 61/102 - 1
6-90405675-G-A c.9420C>T p.F3140= Synonymous 61/102 - 1
6-90405692-G-A c.9403C>T p.Q3135* Nonsense 61/102 - 1
6-90405698-G-A c.9397C>T p.Q3133* Nonsense 61/102 - 4
6-90405700-G-A c.9395C>T p.S3132F Missense 61/102 - 1
6-90405705-C-T c.9390G>A p.T3130= Synonymous 61/102 - 1
6-90405706-G-A c.9389C>T p.T3130M Missense 61/102 - 5
6-90405993-C-G c.9383+86G>C - IntronicSNV - 60/101 4
6-90405993-C-T c.9383+86G>A - IntronicSNV - 60/101 3
6-90406079-CT-TG c.9382_9383delinsCA p.R3128Q Missense 60/102 - 3
6-90406081-G-A c.9381C>T p.F3127= Synonymous 60/102 - 2
6-90406086-C-G c.9376G>C p.E3126Q Missense 60/102 - 1
6-90406094-G-A c.9368C>T p.S3123L Missense 60/102 - 3
6-90406097-G-C c.9365C>G p.S3122C Missense 60/102 - 1
6-90406104-C-A c.9358G>T p.A3120S Missense 60/102 - 1
6-90406112-GT-CA c.9349_9350delinsTG p.T3117C Missense 60/102 - 1
6-90406124-G-A c.9338C>T p.S3113L Missense 60/102 - 9
6-90406134-C-T c.9328G>A p.D3110N Missense 60/102 - 1
6-90406138-G-C c.9324C>G p.L3108= Synonymous 60/102 - 1
6-90406142-T-A c.9320A>T p.Q3107L Missense 60/102 - 1
6-90406153-C-A c.9309G>T p.E3103D Missense 60/102 - 1
6-90406153-C-G c.9309G>C p.E3103D Missense 60/102 - 1
6-90406153-C-T c.9309G>A p.E3103= Synonymous 60/102 - 4
6-90406158-C-T c.9304G>A p.V3102I Missense 60/102 - 3
6-90406160-C-A c.9302G>T p.W3101L Missense 60/102 - 1
6-90406179-G-A c.9283C>T p.H3095Y Missense 60/102 - 1
6-90406181-G-T c.9281C>A p.S3094Y Missense 60/102 - 1
6-90406193-A-T c.9269T>A p.I3090N Missense 60/102 - 1
6-90406194-T-C c.9268A>G p.I3090V Missense 60/102 - 2
6-90406196-G-A c.9266C>T p.P3089L Missense 60/102 - 1
6-90406197-G-A c.9265C>T p.P3089S Missense 60/102 - 3
6-90406198-G-A c.9264C>T p.L3088= Synonymous 60/102 - 1
6-90406198-G-C c.9264C>G p.L3088= Synonymous 60/102 - 1
6-90406198-G-T c.9264C>A p.L3088= Synonymous 60/102 - 1
6-90406200-G-A c.9262C>T p.L3088F Missense 60/102 - 1
6-90406202-C-G c.9260G>C p.G3087A Missense 60/102 - 2
6-90406202-C-T c.9260G>A p.G3087D Missense 60/102 - 1
6-90406203-C-T c.9259G>A p.G3087S Missense 60/102 - 1
6-90406207-C-A c.9255G>T p.V3085= Synonymous 60/102 - 1
6-90406215-CA-C c.9247del p.W3083Gfs*3 Frameshift 60/102 - 1
6-90406216-G-A c.9246C>T p.P3082= Synonymous 60/102 - 1
6-90406216-G-C c.9246C>G p.P3082= Synonymous 60/102 - 1
6-90406216-G-T c.9246C>A p.P3082= Synonymous 60/102 - 1
6-90406217-G-A c.9245C>T p.P3082L Missense 60/102 - 5
6-90406234-G-A c.9228C>T p.S3076= Synonymous 60/102 - 1
6-90406254-A-G c.9208T>C p.C3070R Missense 60/102 - 1
6-90406274-C-T c.9188G>A p.R3063K Missense 60/102 - 1
6-90406287-C-T c.9175G>A p.G3059S Missense 60/102 - 1
6-90406289-G-A c.9173C>T p.P3058L Missense 60/102 - 1
6-90406290-G-A c.9172C>T p.P3058S Missense 60/102 - 1
6-90408326-T-C c.9168+258A>G - IntronicSNV - 59/101 1
6-90408564-A-G c.9168+20T>C - IntronicSNV - 59/101 1
6-90408584-C-T c.9168G>A p.K3056= Synonymous 59/102 - 1
6-90408587-C-T c.9165G>A p.L3055= Synonymous 59/102 - 2
6-90408589-A-G c.9163T>C p.L3055= Synonymous 59/102 - 13
6-90408606-G-A c.9146C>T p.S3049F Missense 59/102 - 1
6-90408616-C-T c.9136G>A p.A3046T Missense 59/102 - 1
6-90408618-T-C c.9134A>G p.E3045G Missense 59/102 - 2
6-90408632-A-G c.9120T>C p.G3040= Synonymous 59/102 - 1
6-90408633-C-T c.9119G>A p.G3040D Missense 59/102 - 1
6-90408644-G-T c.9108C>A p.N3036K Missense 59/102 - 1
6-90408649-A-G c.9103T>C p.W3035R Missense 59/102 - 2
6-90408649-A-T c.9103T>A p.W3035R Missense 59/102 - 1
6-90408652-T-G c.9100A>C p.M3034L Missense 59/102 - 1
6-90408659-G-A c.9093C>T p.Y3031= Synonymous 59/102 - 1
6-90408665-T-A c.9087A>T p.P3029= Synonymous 59/102 - 1
6-90408665-T-C c.9087A>G p.P3029= Synonymous 59/102 - 2
6-90408665-T-G c.9087A>C p.P3029= Synonymous 59/102 - 1
6-90408681-G-A c.9071C>T p.T3024I Missense 59/102 - 1
6-90408687-C-A c.9065G>T p.S3022I Missense 59/102 - 2
6-90408689-C-A c.9063G>T p.W3021C Missense 59/102 - 1
6-90408689-C-G c.9063G>C p.W3021C Missense 59/102 - 1
6-90408705-A-G c.9047T>C p.M3016T Missense 59/102 - 1
6-90408708-G-A c.9044C>T p.S3015F Missense 59/102 - 2
6-90408719-C-G c.9033G>C p.E3011D Missense 59/102 - 1
6-90408720-T-C c.9032A>G p.E3011G Missense 59/102 - 1
6-90408728-C-T c.9024G>A p.L3008= Synonymous 59/102 - 3
6-90408732-G-T c.9020C>A p.S3007Y Missense 59/102 - 1
6-90408740-T-C c.9012A>G p.E3004= Synonymous 59/102 - 1
6-90408742-C-T c.9010G>A p.E3004K Missense 59/102 - 23
6-90409278-C-T c.8997+42G>A - IntronicSNV - 58/101 1
6-90409321-T-A c.8996A>T p.K2999M Missense 58/102 - 4
6-90409323-C-T c.8994G>A p.Q2998= Synonymous 58/102 - 4
6-90409339-G-A c.8978C>T p.S2993F Missense 58/102 - 1
6-90409351-C-T c.8966G>A p.R2989Q Missense 58/102 - 1
6-90409352-G-A c.8965C>T p.R2989* Nonsense 58/102 - 2
6-90409355-G-A c.8962C>T p.L2988F Missense 58/102 - 1
6-90409370-C-T c.8947G>A p.V2983I Missense 58/102 - 1
6-90409373-G-A c.8944C>T p.P2982S Missense 58/102 - 2
6-90409378-T-A c.8939A>T p.H2980L Missense 58/102 - 1
6-90409385-G-T c.8932C>A p.L2978I Missense 58/102 - 1
6-90409388-A-C c.8929T>G p.C2977G Missense 58/102 - 1
6-90409393-G-A c.8924C>T p.S2975L Missense 58/102 - 5
6-90409393-GA-AT c.8923_8924delinsAT p.S2975I Missense 58/102 - 1
6-90409402-T-G c.8915A>C p.H2972P Missense 58/102 - 9
6-90409403-G-T c.8914C>A p.H2972N Missense 58/102 - 1
6-90409406-T-C c.8911A>G p.S2971G Missense 58/102 - 1
6-90409416-A-G c.8901T>C p.N2967= Synonymous 58/102 - 1
6-90409426-G-A c.8891C>T p.P2964L Missense 58/102 - 1
6-90409433-G-A c.8884C>T p.Q2962* Nonsense 58/102 - 2
6-90409444-C-A c.8873G>T p.C2958F Missense 58/102 - 1
6-90409446-T-A c.8871A>T p.R2957S Missense 58/102 - 3
6-90409446-T-G c.8871A>C p.R2957S Missense 58/102 - 2
6-90409615-TA-T c.8870+166del - IntronicDeletion - 57/101 1
6-90409798-G-A c.8854C>T p.Q2952* Nonsense 57/102 - 1
6-90409813-C-A c.8839G>T p.A2947S Missense 57/102 - 1
6-90409828-G-A c.8824C>T p.R2942W Missense 57/102 - 2
6-90409836-A-T c.8816T>A p.M2939K Missense 57/102 - 2
6-90409857-G-A c.8795C>T p.P2932L Missense 57/102 - 1
6-90409858-G-A c.8794C>T p.P2932S Missense 57/102 - 1
6-90409883-G-A c.8769C>T p.H2923= Synonymous 57/102 - 1
6-90409884-T-G c.8768A>C p.H2923P Missense 57/102 - 1
6-90409891-C-T c.8761G>A p.V2921I Missense 57/102 - 1
6-90409892-G-A c.8760C>T p.S2920= Synonymous 57/102 - 1
6-90409898-C-A c.8754G>T p.L2918F Missense 57/102 - 1
6-90409898-C-G c.8754G>C p.L2918F Missense 57/102 - 1
6-90409903-C-T c.8749G>A p.D2917N Missense 57/102 - 2
6-90409929-T-C c.8723A>G p.D2908G Missense 57/102 - 1
6-90409933-G-T c.8719C>A p.H2907N Missense 57/102 - 1
6-90409936-T-TA c.8715_8716insT p.K2906* Nonsense 57/102 - 1
6-90409939-T-G c.8713A>C p.K2905Q Missense 57/102 - 1
6-90409942-C-G c.8710G>C p.E2904Q Missense 57/102 - 1
6-90409954-G-C c.8698C>G p.L2900V Missense 57/102 - 1
6-90409955-T-C c.8697A>G p.S2899= Synonymous 57/102 - 1
6-90409956-G-A c.8696C>T p.S2899L Missense 57/102 - 1
6-90409978-C-G c.8674G>C p.E2892Q Missense 57/102 - 1
6-90409978-C-T c.8674G>A p.E2892K Missense 57/102 - 1
6-90409982-A-G c.8670T>C p.C2890= Synonymous 57/102 - 1
6-90409986-T-C c.8666A>G p.Q2889R Missense 57/102 - 1
6-90410003-C-A c.8649G>T p.K2883N Missense 57/102 - 2
6-90410003-C-G c.8649G>C p.K2883N Missense 57/102 - 1
6-90410210-A-G c.8638+155T>C - IntronicSNV - 56/101 1
6-90410236-T-TATAA c.8638+125_8638+128dup - IntronicInsertion - 56/101 1
6-90410381-C-A c.8622G>T p.L2874F Missense 56/102 - 1
6-90410381-C-G c.8622G>C p.L2874F Missense 56/102 - 1
6-90410395-T-C c.8608A>G p.R2870G Missense 56/102 - 1
6-90410406-C-T c.8597G>A p.G2866E Missense 56/102 - 1
6-90410420-G-A c.8583C>T p.L2861= Synonymous 56/102 - 2
6-90410420-G-C c.8583C>G p.L2861= Synonymous 56/102 - 1
6-90410420-G-T c.8583C>A p.L2861= Synonymous 56/102 - 1
6-90410422-G-A c.8581C>T p.L2861F Missense 56/102 - 1
6-90410424-C-T c.8579G>A p.S2860N Missense 56/102 - 1
6-90410435-T-A c.8568A>T p.T2856= Synonymous 56/102 - 1
6-90410435-T-C c.8568A>G p.T2856= Synonymous 56/102 - 1
6-90410435-T-G c.8568A>C p.T2856= Synonymous 56/102 - 1
6-90410441-C-A c.8562G>T p.Q2854H Missense 56/102 - 1
6-90410441-C-G c.8562G>C p.Q2854H Missense 56/102 - 1
6-90410442-T-C c.8561A>G p.Q2854R Missense 56/102 - 1
6-90410448-G-A c.8555C>T p.A2852V Missense 56/102 - 1
6-90410458-G-T c.8545C>A p.Q2849K Missense 56/102 - 1
6-90410459-G-C c.8544C>G p.L2848= Synonymous 56/102 - 1
6-90410461-G-A c.8542C>T p.L2848F Missense 56/102 - 1
6-90410463-C-T c.8540G>A p.R2847H Missense 56/102 - 3
6-90410464-G-A c.8539C>T p.R2847C Missense 56/102 - 3
6-90410473-C-G c.8530G>C p.D2844H Missense 56/102 - 2
6-90410475-T-C c.8528A>G p.E2843G Missense 56/102 - 1
6-90410487-C-G c.8516G>C p.S2839T Missense 56/102 - 1
6-90410497-G-A c.8506C>T p.L2836F Missense 56/102 - 1
6-90410501-A-C c.8502T>G p.S2834= Synonymous 56/102 - 4
6-90410501-A-G c.8502T>C p.S2834= Synonymous 56/102 - 4
6-90410501-A-T c.8502T>A p.S2834= Synonymous 56/102 - 5
6-90410508-T-C c.8495A>G p.Q2832R Missense 56/102 - 1
6-90410513-CC-GA c.8489_8490delinsTC p.R2830I Missense 56/102 - 1
6-90410515-T-A c.8488A>T p.R2830W Missense 56/102 - 1
6-90410521-C-G c.8482G>C p.A2828P Missense 56/102 - 1
6-90410524-G-T c.8479C>A p.L2827I Missense 56/102 - 1
6-90410529-T-C c.8474A>G p.K2825R Missense 56/102 - 1
6-90410531-G-A c.8472C>T p.N2824= Synonymous 56/102 - 1
6-90410537-G-A c.8466C>T p.V2822= Synonymous 56/102 - 2
6-90410537-G-C c.8466C>G p.V2822= Synonymous 56/102 - 2
6-90410537-G-T c.8466C>A p.V2822= Synonymous 56/102 - 3
6-90410546-T-C c.8457A>G p.Q2819= Synonymous 56/102 - 2
6-90410566-C-G c.8437G>C p.V2813L Missense 56/102 - 1
6-90410569-G-C c.8434C>G p.L2812V Missense 56/102 - 1
6-90411238-G-C c.8427+39C>G - IntronicSNV - 55/101 1
6-90411277-C-T c.8427G>A p.K2809= Synonymous 55/102 - 1
6-90411284-G-A c.8420C>T p.P2807L Missense 55/102 - 1
6-90411285-G-A c.8419C>T p.P2807S Missense 55/102 - 3
6-90411291-G-A c.8413C>T p.P2805S Missense 55/102 - 1
6-90411293-C-T c.8411G>A p.R2804Q Missense 55/102 - 2
6-90411294-G-A c.8410C>T p.R2804* Nonsense 55/102 - 1
6-90411327-C-T c.8377G>A p.A2793T Missense 55/102 - 1
6-90411328-G-A c.8376C>T p.F2792= Synonymous 55/102 - 2
6-90411332-C-A c.8372G>T p.G2791V Missense 55/102 - 1
6-90411335-C-G c.8369G>C p.G2790A Missense 55/102 - 1
6-90411335-C-T c.8369G>A p.G2790D Missense 55/102 - 3
6-90411336-C-T c.8368G>A p.G2790S Missense 55/102 - 1
6-90411357-T-G c.8347A>C p.N2783H Missense 55/102 - 2
6-90411358-C-A c.8346G>T p.Q2782H Missense 55/102 - 1
6-90411358-C-G c.8346G>C p.Q2782H Missense 55/102 - 1
6-90411360-G-A c.8344C>T p.Q2782* Nonsense 55/102 - 1
6-90411366-G-T c.8338C>A p.H2780N Missense 55/102 - 1
6-90411380-T-A c.8324A>T p.Q2775L Missense 55/102 - 1
6-90411381-G-A c.8323C>T p.Q2775* Nonsense 55/102 - 3
6-90411381-G-C c.8323C>G p.Q2775E Missense 55/102 - 1
6-90411384-AC-A c.8320del p.V2774Ffs*22 Frameshift 55/102 - 1
6-90411384-CT-C c.8319del p.V2774Ffs*22 Frameshift 55/102 - 1
6-90411386-T-A c.8318A>T p.E2773V Missense 55/102 - 1
6-90411396-A-T c.8308T>A p.Y2770N Missense 55/102 - 2
6-90411423-G-A c.8307-26C>T - IntronicSNV - 54/101 1
6-90411423-G-C c.8307-26C>G - IntronicSNV - 54/101 1
6-90411625-G-T c.8304C>A p.D2768E Missense 54/102 - 1
6-90411630-C-T c.8299G>A p.E2767K Missense 54/102 - 1
6-90411637-C-A c.8292G>T p.M2764I Missense 54/102 - 1
6-90411637-C-G c.8292G>C p.M2764I Missense 54/102 - 1
6-90411637-C-T c.8292G>A p.M2764I Missense 54/102 - 5
6-90411641-A-T c.8288T>A p.L2763Q Missense 54/102 - 1
6-90411642-G-T c.8287C>A p.L2763M Missense 54/102 - 1
6-90411648-G-A c.8281C>T p.R2761* Nonsense 54/102 - 1
6-90411648-G-T c.8281C>A p.R2761= Synonymous 54/102 - 1
6-90411651-G-A c.8278C>T p.P2760S Missense 54/102 - 1
6-90411652-G-A c.8277C>T p.I2759= Synonymous 54/102 - 5
6-90411652-G-T c.8277C>A p.I2759= Synonymous 54/102 - 2
6-90411657-G-T c.8272C>A p.Q2758K Missense 54/102 - 1
6-90411664-C-T c.8265G>A p.L2755= Synonymous 54/102 - 3
6-90411668-T-G c.8261A>C p.H2754P Missense 54/102 - 1
6-90411669-G-A c.8260C>T p.H2754Y Missense 54/102 - 1
6-90411677-A-T c.8252T>A p.V2751D Missense 54/102 - 3
6-90411684-G-A c.8245C>T p.H2749Y Missense 54/102 - 1
6-90411704-G-A c.8225C>T p.A2742V Missense 54/102 - 3
6-90411713-G-A c.8216C>T p.P2739L Missense 54/102 - 1
6-90411727-T-A c.8202A>T p.V2734= Synonymous 54/102 - 1
6-90411727-T-C c.8202A>G p.V2734= Synonymous 54/102 - 1
6-90411727-T-G c.8202A>C p.V2734= Synonymous 54/102 - 1
6-90411736-G-A c.8193C>T p.A2731= Synonymous 54/102 - 1
6-90411736-G-C c.8193C>G p.A2731= Synonymous 54/102 - 1
6-90411736-G-T c.8193C>A p.A2731= Synonymous 54/102 - 3
6-90411737-G-A c.8192C>T p.A2731V Missense 54/102 - 2
6-90411742-AG-CA c.8186_8187delinsTG p.T2729M Missense 54/102 - 1
6-90411744-T-G c.8185A>C p.T2729P Missense 54/102 - 1
6-90411753-G-A c.8176C>T p.R2726W Missense 54/102 - 1
6-90411754-G-C c.8175C>G p.D2725E Missense 54/102 - 1
6-90411754-G-T c.8175C>A p.D2725E Missense 54/102 - 3
6-90411757-CCG-GCT c.8170_8172delinsAGC p.R2724S Missense 54/102 - 1
6-90411759-G-A c.8170C>T p.R2724W Missense 54/102 - 4
6-90411764-C-T c.8165G>A p.R2722Q Missense 54/102 - 1
6-90411765-G-A c.8164C>T p.R2722W Missense 54/102 - 10
6-90411774-C-T c.8155G>A p.G2719S Missense 54/102 - 2
6-90411777-A-C c.8152T>G p.L2718V Missense 54/102 - 3
6-90411779-A-G c.8150T>C p.I2717T Missense 54/102 - 1
6-90415764-A-G c.8148+14T>C - IntronicSNV - 53/101 7
6-90415797-G-A c.8129C>T p.S2710F Missense 53/102 - 1
6-90415801-C-A c.8125G>T p.V2709L Missense 53/102 - 1
6-90415807-C-T c.8119G>A p.G2707R Missense 53/102 - 1
6-90415815-G-A c.8111C>T p.S2704F Missense 53/102 - 1
6-90415817-C-T c.8109G>A p.Q2703= Synonymous 53/102 - 2
6-90415831-G-A c.8095C>T p.L2699= Synonymous 53/102 - 1
6-90415832-G-A c.8094C>T p.V2698= Synonymous 53/102 - 1
6-90415832-G-C c.8094C>G p.V2698= Synonymous 53/102 - 1
6-90415832-G-T c.8094C>A p.V2698= Synonymous 53/102 - 1
6-90415834-C-A c.8092G>T p.V2698F Missense 53/102 - 2
6-90415837-G-A c.8089C>T p.L2697= Synonymous 53/102 - 1
6-90415838-T-A c.8088A>T p.A2696= Synonymous 53/102 - 2
6-90415838-T-C c.8088A>G p.A2696= Synonymous 53/102 - 1
6-90415839-G-A c.8087C>T p.A2696V Missense 53/102 - 1
6-90415845-C-G c.8081G>C p.C2694S Missense 53/102 - 2
6-90415846-A-T c.8080T>A p.C2694S Missense 53/102 - 2
6-90415850-T-C c.8076A>G p.E2692= Synonymous 53/102 - 1
6-90415850-T-G c.8076A>C p.E2692D Missense 53/102 - 1
6-90415852-C-A c.8074G>T p.E2692* Nonsense 53/102 - 3
6-90415852-C-T c.8074G>A p.E2692K Missense 53/102 - 1
6-90415852-TC-T c.8074del p.E2692Nfs*6 Frameshift 53/102 - 2
6-90415854-A-G c.8072T>C p.F2691S Missense 53/102 - 1
6-90415852-CA-C c.8073del p.F2691Lfs*7 Frameshift 53/102 - 8
6-90415852-C-CA c.8073dup p.E2692* Nonsense 53/102 - 1
6-90415869-T-C c.8057A>G p.N2686S Missense 53/102 - 2
6-90415871-G-A c.8055C>T p.V2685= Synonymous 53/102 - 2
6-90415871-G-C c.8055C>G p.V2685= Synonymous 53/102 - 1
6-90415871-G-T c.8055C>A p.V2685= Synonymous 53/102 - 1
6-90415873-C-T c.8053G>A p.V2685I Missense 53/102 - 1
6-90415885-G-A c.8041C>T p.H2681Y Missense 53/102 - 1
6-90415886-G-A c.8040C>T p.P2680= Synonymous 53/102 - 1
6-90415886-G-C c.8040C>G p.P2680= Synonymous 53/102 - 1
6-90415886-G-T c.8040C>A p.P2680= Synonymous 53/102 - 1
6-90415887-G-A c.8039C>T p.P2680L Missense 53/102 - 1
6-90415894-T-C c.8032A>G p.T2678A Missense 53/102 - 6
6-90415905-T-G c.8021A>C p.E2674A Missense 53/102 - 1
6-90415909-G-C c.8017C>G p.P2673A Missense 53/102 - 1
6-90415911-T-A c.8015A>T p.D2672V Missense 53/102 - 1
6-90416006-T-G c.8015-95A>C - IntronicSNV - 52/101 2
6-90416666-CA-C c.8014+413del - IntronicDeletion - 52/101 1
6-90417097-G-A c.7997C>T p.S2666F Missense 52/102 - 1
6-90417102-T-C c.7992A>G p.R2664= Synonymous 52/102 - 1
6-90417104-T-G c.7990A>C p.R2664= Synonymous 52/102 - 1
6-90417114-C-G c.7980G>C p.E2660D Missense 52/102 - 1
6-90417111-ACTCT-A c.7979_7982del p.E2660Vfs*3 Frameshift 52/102 - 1
6-90417116-C-CA c.7977_7978insT p.E2660* Nonsense 52/102 - 1
6-90417122-G-T c.7972C>A p.L2658I Missense 52/102 - 1
6-90417129-TG-T c.7965del p.S2655Rfs*4 Frameshift 52/102 - 1
6-90417133-C-T c.7961G>A p.G2654D Missense 52/102 - 1
6-90417135-A-G c.7959T>C p.V2653= Synonymous 52/102 - 1
6-90417139-G-A c.7955C>T p.S2652F Missense 52/102 - 2
6-90417166-C-A c.7928G>T p.R2643L Missense 52/102 - 1
6-90417166-C-T c.7928G>A p.R2643Q Missense 52/102 - 1
6-90417167-G-A c.7927C>T p.R2643W Missense 52/102 - 3
6-90417170-T-TA c.7923_7924insT p.K2642* Nonsense 52/102 - 1
6-90417167-GT-G c.7926del p.K2642Nfs*17 Frameshift 52/102 - 3
6-90417173-C-T c.7921G>A p.E2641K Missense 52/102 - 2
6-90417176-G-A c.7918C>T p.R2640W Missense 52/102 - 1
6-90417189-G-T c.7905C>A p.I2635= Synonymous 52/102 - 4
6-90418217-G-A c.7896C>T p.N2632= Synonymous 51/102 - 1
6-90418217-G-C c.7896C>G p.N2632K Missense 51/102 - 1
6-90418236-A-G c.7877T>C p.L2626P Missense 51/102 - 1
6-90418237-G-A c.7876C>T p.L2626F Missense 51/102 - 2
6-90418251-T-C c.7862A>G p.D2621G Missense 51/102 - 1
6-90418252-C-G c.7861G>C p.D2621H Missense 51/102 - 6
6-90418262-C-A c.7851G>T p.T2617= Synonymous 51/102 - 15
6-90418262-C-G c.7851G>C p.T2617= Synonymous 51/102 - 15
6-90418262-C-T c.7851G>A p.T2617= Synonymous 51/102 - 20
6-90418263-G-A c.7850C>T p.T2617M Missense 51/102 - 1
6-90418265-T-C c.7848A>G p.Q2616= Synonymous 51/102 - 1
6-90418267-G-T c.7846C>A p.Q2616K Missense 51/102 - 1
6-90418277-G-A c.7836C>T p.D2612= Synonymous 51/102 - 1
6-90418279-C-G c.7834G>C p.D2612H Missense 51/102 - 4
6-90418283-CAA-ATG c.7828_7830delinsCAT p.L2610H Missense 51/102 - 1
6-90418295-C-G c.7818G>C p.M2606I Missense 51/102 - 1
6-90418320-C-T c.7793G>A p.R2598Q Missense 51/102 - 2
6-90418321-G-A c.7792C>T p.R2598* Nonsense 51/102 - 2
6-90418324-G-A c.7789C>T p.P2597S Missense 51/102 - 3
6-90418330-G-A c.7783C>T p.L2595= Synonymous 51/102 - 1
6-90418331-A-G c.7782T>C p.P2594= Synonymous 51/102 - 8
6-90418334-G-T c.7779C>A p.I2593= Synonymous 51/102 - 1
6-90418337-C-A c.7776G>T p.V2592= Synonymous 51/102 - 1
6-90418337-C-G c.7776G>C p.V2592= Synonymous 51/102 - 1
6-90418337-C-T c.7776G>A p.V2592= Synonymous 51/102 - 1
6-90420405-G-A c.7760C>T p.T2587I Missense 50/102 - 1
6-90420418-A-C c.7747T>G p.L2583V Missense 50/102 - 1
6-90420429-A-C c.7736T>G p.V2579G Missense 50/102 - 1
6-90420451-G-A c.7714C>T p.L2572F Missense 50/102 - 1
6-90420466-A-C c.7699T>G p.F2567V Missense 50/102 - 1
6-90420473-G-A c.7692C>T p.L2564= Synonymous 50/102 - 1
6-90420473-G-C c.7692C>G p.L2564= Synonymous 50/102 - 2
6-90420473-G-T c.7692C>A p.L2564= Synonymous 50/102 - 1
6-90420479-TGC-ACA c.7684_7686delinsTGT p.A2562C Missense 50/102 - 1
6-90420480-G-A c.7685C>T p.A2562V Missense 50/102 - 1
6-90420481-C-A c.7684G>T p.A2562S Missense 50/102 - 1
6-90420485-A-C c.7680T>G p.S2560R Missense 50/102 - 1
6-90420485-A-T c.7680T>A p.S2560R Missense 50/102 - 1
6-90420487-T-G c.7678A>C p.S2560R Missense 50/102 - 1
6-90420497-A-C c.7668T>G p.H2556Q Missense 50/102 - 1
6-90420497-A-T c.7668T>A p.H2556Q Missense 50/102 - 1
6-90420499-G-A c.7666C>T p.H2556Y Missense 50/102 - 3
6-90421722-A-G c.7651+33T>C - IntronicSNV - 49/101 1
6-90421758-G-A c.7648C>T p.L2550F Missense 49/102 - 1
6-90421766-G-A c.7640C>T p.P2547L Missense 49/102 - 1
6-90421779-C-T c.7627G>A p.A2543T Missense 49/102 - 1
6-90421794-A-G c.7612T>C p.W2538R Missense 49/102 - 1
6-90421794-A-T c.7612T>A p.W2538R Missense 49/102 - 1
6-90421810-C-T c.7596G>A p.W2532* Nonsense 49/102 - 1
6-90421811-C-T c.7595G>A p.W2532* Nonsense 49/102 - 1
6-90421823-G-C c.7583C>G p.T2528S Missense 49/102 - 1
6-90421824-T-A c.7582A>T p.T2528S Missense 49/102 - 1
6-90421827-CTCTT-C c.7575_7578del p.R2526Qfs*16 Frameshift 49/102 - 1
6-90421835-A-G c.7571T>C p.I2524T Missense 49/102 - 1
6-90421838-A-G c.7568T>C p.L2523P Missense 49/102 - 1
6-90421840-C-A c.7566G>T p.L2522F Missense 49/102 - 1
6-90421840-C-G c.7566G>C p.L2522F Missense 49/102 - 1
6-90421848-C-A c.7558G>T p.V2520F Missense 49/102 - 1
6-90421848-C-G c.7558G>C p.V2520L Missense 49/102 - 1
6-90421848-C-T c.7558G>A p.V2520I Missense 49/102 - 1
6-90421860-A-C c.7546T>G p.L2516V Missense 49/102 - 1
6-90421882-G-A c.7524C>T p.Y2508= Synonymous 49/102 - 2
6-90421887-T-C c.7519A>G p.T2507A Missense 49/102 - 4
6-90421889-T-C c.7517A>G p.N2506S Missense 49/102 - 1
6-90421896-C-T c.7510G>A p.E2504K Missense 49/102 - 5
6-90421897-G-A c.7509C>T p.V2503= Synonymous 49/102 - 2
6-90421900-T-A c.7506A>T p.A2502= Synonymous 49/102 - 2
6-90421900-T-C c.7506A>G p.A2502= Synonymous 49/102 - 1
6-90421900-T-G c.7506A>C p.A2502= Synonymous 49/102 - 1
6-90421912-C-A c.7494G>T p.L2498= Synonymous 49/102 - 1
6-90421912-C-G c.7494G>C p.L2498= Synonymous 49/102 - 3
6-90421912-C-T c.7494G>A p.L2498= Synonymous 49/102 - 1
6-90421914-G-A c.7492C>T p.L2498= Synonymous 49/102 - 4
6-90421918-C-A c.7488G>T p.E2496D Missense 49/102 - 1
6-90421918-C-G c.7488G>C p.E2496D Missense 49/102 - 1
6-90421940-A-C c.7466T>G p.I2489S Missense 49/102 - 1
6-90421947-C-T c.7459G>A p.E2487K Missense 49/102 - 1
6-90421949-A-T c.7457T>A p.L2486* Nonsense 49/102 - 1
6-90421956-G-A c.7450C>T p.Q2484* Nonsense 49/102 - 1
6-90421957-C-T c.7449G>A p.L2483= Synonymous 49/102 - 1
6-90421959-A-G c.7447T>C p.L2483= Synonymous 49/102 - 1
6-90422305-TGC-T c.7418_7419del p.S2473Kfs*23 Frameshift 48/102 - 1
6-90422325-T-A c.7399A>T p.R2467W Missense 48/102 - 1
6-90422326-G-A c.7398C>T p.N2466= Synonymous 48/102 - 2
6-90422329-G-T c.7395C>A p.L2465= Synonymous 48/102 - 1
6-90422331-G-C c.7393C>G p.L2465V Missense 48/102 - 1
6-90422335-A-C c.7389T>G p.Y2463* Nonsense 48/102 - 1
6-90422335-A-T c.7389T>A p.Y2463* Nonsense 48/102 - 1
6-90422337-A-G c.7387T>C p.Y2463H Missense 48/102 - 1
6-90422344-G-T c.7380C>A p.I2460= Synonymous 48/102 - 1
6-90422355-C-T c.7369G>A p.D2457N Missense 48/102 - 2
6-90422360-C-T c.7364G>A p.R2455Q Missense 48/102 - 5
6-90422361-G-A c.7363C>T p.R2455* Nonsense 48/102 - 1
6-90422369-G-A c.7355C>T p.S2452F Missense 48/102 - 1
6-90422373-G-T c.7351C>A p.L2451M Missense 48/102 - 2
6-90422394-A-C c.7330T>G p.F2444V Missense 48/102 - 1
6-90422395-G-A c.7329C>T p.L2443= Synonymous 48/102 - 3
6-90422395-G-C c.7329C>G p.L2443= Synonymous 48/102 - 1
6-90422411-G-A c.7313C>T p.S2438F Missense 48/102 - 1
6-90422415-C-G c.7309G>C p.D2437H Missense 48/102 - 1
6-90422419-C-T c.7305G>A p.W2435* Nonsense 48/102 - 2
6-90422420-C-T c.7304G>A p.W2435* Nonsense 48/102 - 1
6-90422425-TCC-ACA c.7297_7299delinsTGT p.G2433C Missense 48/102 - 2
6-90422426-C-A c.7298G>T p.G2433V Missense 48/102 - 5
6-90422432-C-T c.7292G>A p.G2431D Missense 48/102 - 1
6-90422436-G-A c.7288C>T p.L2430F Missense 48/102 - 2
6-90422445-C-T c.7279G>A p.D2427N Missense 48/102 - 1
6-90422460-G-T c.7264C>A p.H2422N Missense 48/102 - 1
6-90422465-C-T c.7259G>A p.R2420Q Missense 48/102 - 1
6-90422464-T-A c.7260A>T p.R2420= Synonymous 48/102 - 1
6-90422464-T-C c.7260A>G p.R2420= Synonymous 48/102 - 1
6-90422464-T-G c.7260A>C p.R2420= Synonymous 48/102 - 1
6-90422466-G-A c.7258C>T p.R2420* Nonsense 48/102 - 2
6-90422466-G-T c.7258C>A p.R2420= Synonymous 48/102 - 2
6-90422480-T-A c.7244A>T p.H2415L Missense 48/102 - 1
6-90422485-C-A c.7239G>T p.E2413D Missense 48/102 - 1
6-90422485-C-G c.7239G>C p.E2413D Missense 48/102 - 1
6-90422487-C-A c.7237G>T p.E2413* Nonsense 48/102 - 1
6-90422499-G-T c.7225C>A p.Q2409K Missense 48/102 - 1
6-90422627-G-A c.7219-122C>T - IntronicSNV - 47/101 4
6-90422627-G-C c.7219-122C>G - IntronicSNV - 47/101 4
6-90422627-G-T c.7219-122C>A - IntronicSNV - 47/101 4
6-90422888-C-A c.7197G>T p.Q2399H Missense 47/102 - 1
6-90422888-C-G c.7197G>C p.Q2399H Missense 47/102 - 1
6-90422892-G-T c.7193C>A p.S2398Y Missense 47/102 - 1
6-90422895-C-A c.7190G>T p.C2397F Missense 47/102 - 1
6-90422895-CA-GT c.7189_7190delinsAC p.C2397T Missense 47/102 - 1
6-90422898-A-G c.7187T>C p.V2396A Missense 47/102 - 1
6-90422912-G-A c.7173C>T p.C2391= Synonymous 47/102 - 1
6-90422913-C-A c.7172G>T p.C2391F Missense 47/102 - 1
6-90422914-A-C c.7171T>G p.C2391G Missense 47/102 - 1
6-90422922-G-A c.7163C>T p.S2388F Missense 47/102 - 1
6-90422928-G-A c.7157C>T p.A2386V Missense 47/102 - 1
6-90422934-T-C c.7151A>G p.D2384G Missense 47/102 - 2
6-90422940-C-T c.7145G>A p.S2382N Missense 47/102 - 2
6-90422942-C-T c.7143G>A p.L2381= Synonymous 47/102 - 2
6-90422945-C-T c.7140G>A p.G2380= Synonymous 47/102 - 1
6-90422949-C-T c.7136G>A p.R2379Q Missense 47/102 - 1
6-90422950-G-A c.7135C>T p.R2379* Nonsense 47/102 - 2
6-90422952-T-C c.7133A>G p.Q2378R Missense 47/102 - 1
6-90422962-G-A c.7123C>T p.Q2375* Nonsense 47/102 - 1
6-90422965-C-T c.7120G>A p.V2374I Missense 47/102 - 2
6-90422980-T-G c.7105A>C p.T2369P Missense 47/102 - 1
6-90422983-G-A c.7102C>T p.Q2368* Nonsense 47/102 - 2
6-90423000-G-A c.7085C>T p.S2362F Missense 47/102 - 1
6-90423003-G-C c.7082C>G p.S2361C Missense 47/102 - 2
6-90423007-T-G c.7078A>C p.T2360P Missense 47/102 - 1
6-90424273-C-A c.7058G>T p.S2353I Missense 46/102 - 1
6-90424273-CT-GC c.7057_7058delinsGC p.S2353A Missense 46/102 - 1
6-90424274-T-C c.7057A>G p.S2353G Missense 46/102 - 1
6-90424276-C-A c.7055G>T p.R2352L Missense 46/102 - 1
6-90424276-C-T c.7055G>A p.R2352Q Missense 46/102 - 1
6-90424281-C-T c.7050G>A p.E2350= Synonymous 46/102 - 1
6-90424285-G-C c.7046C>G p.T2349R Missense 46/102 - 1
6-90424286-T-G c.7045A>C p.T2349P Missense 46/102 - 1
6-90424297-A-C c.7034T>G p.L2345W Missense 46/102 - 1
6-90424302-G-A c.7029C>T p.I2343= Synonymous 46/102 - 3
6-90424302-G-T c.7029C>A p.I2343= Synonymous 46/102 - 2
6-90424317-G-T c.7014C>A p.N2338K Missense 46/102 - 1
6-90424333-A-G c.6998T>C p.L2333P Missense 46/102 - 1
6-90424355-A-C c.6976T>G p.L2326V Missense 46/102 - 3
6-90424359-C-A c.6972G>T p.L2324= Synonymous 46/102 - 1
6-90424359-C-G c.6972G>C p.L2324= Synonymous 46/102 - 1
6-90424359-C-T c.6972G>A p.L2324= Synonymous 46/102 - 1
6-90424361-G-A c.6970C>T p.L2324= Synonymous 46/102 - 2
6-90424366-T-C c.6965A>G p.D2322G Missense 46/102 - 1
6-90424372-GT-CA c.6958_6959delinsTG p.T2320C Missense 46/102 - 1
6-90424378-G-T c.6953C>A p.A2318E Missense 46/102 - 4
6-90424382-C-A c.6949G>T p.D2317Y Missense 46/102 - 3
6-90424382-C-T c.6949G>A p.D2317N Missense 46/102 - 1
6-90424384-C-A c.6947G>T p.G2316V Missense 46/102 - 1
6-90424390-C-T c.6941G>A p.G2314E Missense 46/102 - 3
6-90424391-C-G c.6940G>C p.G2314R Missense 46/102 - 1
6-90424397-T-A c.6934A>T p.I2312F Missense 46/102 - 1
6-90424397-T-C c.6934A>G p.I2312V Missense 46/102 - 2
6-90424400-A-G c.6931T>C p.Y2311H Missense 46/102 - 1
6-90424410-T-A c.6921A>T p.G2307= Synonymous 46/102 - 2
6-90424412-C-A c.6919G>T p.G2307* Nonsense 46/102 - 1
6-90424414-C-T c.6917G>A p.R2306H Missense 46/102 - 1
6-90424415-G-A c.6916C>T p.R2306C Missense 46/102 - 1
6-90424422-C-T c.6909G>A p.M2303I Missense 46/102 - 1
6-90424429-C-T c.6902G>A p.R2301Q Missense 46/102 - 1
6-90424431-G-A c.6900C>T p.S2300= Synonymous 46/102 - 4
6-90424431-G-C c.6900C>G p.S2300= Synonymous 46/102 - 3
6-90424431-G-T c.6900C>A p.S2300= Synonymous 46/102 - 3
6-90424432-G-A c.6899C>T p.S2300F Missense 46/102 - 1
6-90424435-A-G c.6896T>C p.I2299T Missense 46/102 - 1
6-90424443-A-C c.6888T>G p.H2296Q Missense 46/102 - 1
6-90424443-A-T c.6888T>A p.H2296Q Missense 46/102 - 1
6-90424450-G-A c.6881C>T p.P2294L Missense 46/102 - 2
6-90424454-C-T c.6877G>A p.D2293N Missense 46/102 - 3
6-90424455-C-T c.6876G>A p.M2292I Missense 46/102 - 1
6-90424459-G-A c.6872C>T p.S2291L Missense 46/102 - 2
6-90424459-G-T c.6872C>A p.S2291* Nonsense 46/102 - 1
6-90424460-A-C c.6871T>G p.S2291A Missense 46/102 - 1
6-90424463-G-A c.6868C>T p.L2290F Missense 46/102 - 1
6-90424464-G-A c.6867C>T p.F2289= Synonymous 46/102 - 3
6-90424466-A-G c.6865T>C p.F2289L Missense 46/102 - 1
6-90424468-A-C c.6863T>G p.L2288R Missense 46/102 - 1
6-90424478-A-G c.6861-8T>C - IntronicSNV - 45/101 2
6-90424478-A-T c.6861-8T>A - IntronicSNV - 45/101 2
6-90425222-C-T c.6860+150G>A - IntronicSNV - 45/101 1
6-90425372-C-T c.6860G>A p.R2287K Missense 45/102 - 1
6-90425372-CT-TG c.6859_6860delinsCA p.R2287Q Missense 45/102 - 1
6-90425374-G-A c.6858C>T p.F2286= Synonymous 45/102 - 2
6-90425381-G-A c.6851C>T p.P2284L Missense 45/102 - 2
6-90425382-G-A c.6850C>T p.P2284S Missense 45/102 - 1
6-90425387-G-C c.6845C>G p.P2282R Missense 45/102 - 1
6-90425390-G-A c.6842C>T p.T2281I Missense 45/102 - 1
6-90425395-C-T c.6837G>A p.T2279= Synonymous 45/102 - 1
6-90425400-G-A c.6832C>T p.P2278S Missense 45/102 - 1
6-90425410-A-C c.6822T>G p.D2274E Missense 45/102 - 1
6-90425410-A-T c.6822T>A p.D2274E Missense 45/102 - 1
6-90425421-C-A c.6811G>T p.G2271* Nonsense 45/102 - 1
6-90425422-TCT-ATG c.6808_6810delinsCAT p.R2270H Missense 45/102 - 1
6-90425426-T-G c.6806A>C p.E2269A Missense 45/102 - 1
6-90425430-T-A c.6802A>T p.S2268C Missense 45/102 - 3
6-90425433-T-C c.6799A>G p.I2267V Missense 45/102 - 1
6-90425434-AG-CA c.6797_6798delinsTG p.T2266M Missense 45/102 - 1
6-90425438-A-T c.6794T>A p.L2265H Missense 45/102 - 1
6-90425448-C-G c.6784G>C p.G2262R Missense 45/102 - 1
6-90425448-C-T c.6784G>A p.G2262R Missense 45/102 - 1
6-90425449-G-A c.6783C>T p.P2261= Synonymous 45/102 - 3
6-90425449-G-C c.6783C>G p.P2261= Synonymous 45/102 - 1
6-90425449-G-T c.6783C>A p.P2261= Synonymous 45/102 - 1
6-90425454-C-G c.6778G>C p.E2260Q Missense 45/102 - 4
6-90425454-C-T c.6778G>A p.E2260K Missense 45/102 - 1
6-90425467-C-A c.6765G>T p.L2255F Missense 45/102 - 1
6-90425467-C-G c.6765G>C p.L2255F Missense 45/102 - 1
6-90425472-G-A c.6760C>T p.R2254C Missense 45/102 - 1
6-90425483-G-A c.6749C>T p.S2250L Missense 45/102 - 1
6-90425487-G-A c.6745C>T p.P2249S Missense 45/102 - 2
6-90425648-T-C c.6744-160A>G - IntronicSNV - 44/101 2
6-90426270-C-T c.6743+99G>A - IntronicSNV - 44/101 5
6-90426286-C-A c.6743+83G>T - IntronicSNV - 44/101 1
6-90426381-A-T c.6731T>A p.V2244D Missense 44/102 - 1
6-90426384-T-C c.6728A>G p.N2243S Missense 44/102 - 1
6-90426386-G-A c.6726C>T p.D2242= Synonymous 44/102 - 2
6-90426387-T-A c.6725A>T p.D2242V Missense 44/102 - 3
6-90426388-C-T c.6724G>A p.D2242N Missense 44/102 - 1
6-90426389-C-A c.6723G>T p.M2241I Missense 44/102 - 2
6-90426389-C-G c.6723G>C p.M2241I Missense 44/102 - 2
6-90426389-C-T c.6723G>A p.M2241I Missense 44/102 - 2
6-90426402-T-A c.6710A>T p.D2237V Missense 44/102 - 1
6-90426424-C-T c.6688G>A p.V2230I Missense 44/102 - 1
6-90426425-C-A c.6687G>T p.L2229F Missense 44/102 - 1
6-90426425-C-G c.6687G>C p.L2229F Missense 44/102 - 1
6-90426428-C-A c.6684G>T p.M2228I Missense 44/102 - 1
6-90426431-G-A c.6681C>T p.S2227= Synonymous 44/102 - 1
6-90426439-C-T c.6673G>A p.V2225I Missense 44/102 - 1
6-90426453-C-A c.6659G>T p.G2220V Missense 44/102 - 2
6-90426453-C-T c.6659G>A p.G2220D Missense 44/102 - 3
6-90426471-G-A c.6641C>T p.A2214V Missense 44/102 - 1
6-90426489-A-G c.6623T>C p.V2208A Missense 44/102 - 1
6-90426492-C-A c.6620G>T p.G2207V Missense 44/102 - 1
6-90426493-C-A c.6619G>T p.G2207C Missense 44/102 - 1
6-90426495-A-T c.6617T>A p.F2206Y Missense 44/102 - 1
6-90426498-CT-AA c.6613_6614delinsTT p.S2205F Missense 44/102 - 1
6-90426501-C-T c.6611G>A p.R2204Q Missense 44/102 - 1
6-90426502-G-A c.6610C>T p.R2204* Nonsense 44/102 - 5
6-90426502-G-C c.6610C>G p.R2204G Missense 44/102 - 1
6-90426506-C-T c.6606G>A p.E2202= Synonymous 44/102 - 2
6-90426508-C-T c.6604G>A p.E2202K Missense 44/102 - 2
6-90426511-C-G c.6601G>C p.E2201Q Missense 44/102 - 11
6-90426520-T-C c.6592A>G p.K2198E Missense 44/102 - 1
6-90426526-AAC-A c.6585_6586del p.E2195Dfs*6 SpliceAcceptorDeletion 44/102 - 1
6-90426527-AC-A c.6585del p.E2195Dfs*14 Frameshift 44/102 - 1
6-90426526-ACT-A c.6584_6585del - SpliceAcceptorDeletion - 43/101 1
6-90426657-A-G c.6584-129T>C - IntronicSNV - 43/101 2
6-90428085-C-CA c.6582_6583insT p.E2195* SpliceDonorInsertion 43/102 - 1
6-90428085-C-CG c.6582_6583insC p.E2195Rfs*7 SpliceDonorInsertion 43/102 - 1
6-90428085-C-T c.6583G>A p.E2195K Missense 43/102 - 1
6-90428085-C-CT c.6582dup p.E2195Rfs*7 SpliceDonorInsertion 43/102 - 1
6-90428087-G-A c.6581C>T p.A2194V Missense 43/102 - 3
6-90428089-C-T c.6579G>A p.K2193= Synonymous 43/102 - 1
6-90428102-T-C c.6566A>G p.N2189S Missense 43/102 - 1
6-90428108-T-G c.6560A>C p.K2187T Missense 43/102 - 1
6-90428119-T-C c.6549A>G p.R2183= Synonymous 43/102 - 1
6-90428121-G-A c.6547C>T p.R2183* Nonsense 43/102 - 1
6-90428124-G-A c.6544C>T p.Q2182* Nonsense 43/102 - 2
6-90428125-C-A c.6543G>T p.M2181I Missense 43/102 - 1
6-90428125-C-G c.6543G>C p.M2181I Missense 43/102 - 1
6-90428125-C-T c.6543G>A p.M2181I Missense 43/102 - 1
6-90428137-C-A c.6531G>T p.V2177= Synonymous 43/102 - 1
6-90428141-G-A c.6527C>T p.A2176V Missense 43/102 - 1
6-90428148-G-C c.6520C>G p.L2174V Missense 43/102 - 3
6-90428152-G-A c.6516C>T p.N2172= Synonymous 43/102 - 1
6-90428167-C-A c.6501G>T p.T2167= Synonymous 43/102 - 2
6-90428167-C-G c.6501G>C p.T2167= Synonymous 43/102 - 2
6-90428167-C-T c.6501G>A p.T2167= Synonymous 43/102 - 2
6-90428168-G-A c.6500C>T p.T2167M Missense 43/102 - 2
6-90428168-G-T c.6500C>A p.T2167K Missense 43/102 - 2
6-90428170-G-C c.6498C>G p.I2166M Missense 43/102 - 1
6-90428172-T-C c.6496A>G p.I2166V Missense 43/102 - 1
6-90428174-G-A c.6494C>T p.A2165V Missense 43/102 - 2
6-90428183-C-G c.6485G>C p.G2162A Missense 43/102 - 1
6-90428184-C-T c.6484G>A p.G2162S Missense 43/102 - 1
6-90428206-A-G c.6462T>C p.Y2154= Synonymous 43/102 - 1
6-90428212-C-A c.6456G>T p.L2152= Synonymous 43/102 - 1
6-90428212-C-G c.6456G>C p.L2152= Synonymous 43/102 - 1
6-90428212-C-T c.6456G>A p.L2152= Synonymous 43/102 - 1
6-90428214-G-A c.6454C>T p.L2152= Synonymous 43/102 - 1
6-90428223-G-T c.6445C>A p.H2149N Missense 43/102 - 3
6-90428225-C-G c.6443G>C p.S2148T Missense 43/102 - 2
6-90428227-C-T c.6441G>A p.W2147* Nonsense 43/102 - 2
6-90428228-C-T c.6440G>A p.W2147* Nonsense 43/102 - 2
6-90428230-G-A c.6438C>T p.A2146= Synonymous 43/102 - 1
6-90428230-G-C c.6438C>G p.A2146= Synonymous 43/102 - 1
6-90428230-G-T c.6438C>A p.A2146= Synonymous 43/102 - 1
6-90428232-C-T c.6436G>A p.A2146T Missense 43/102 - 2
6-90428234-C-T c.6434G>A p.R2145Q Missense 43/102 - 1
6-90428245-T-A c.6423A>T p.E2141D Missense 43/102 - 1
6-90428247-C-T c.6421G>A p.E2141K Missense 43/102 - 1
6-90428261-CT-AG c.6406_6407inv p.S2136L Missense 43/102 - 1
6-90428264-A-C c.6404T>G p.I2135S Missense 43/102 - 1
6-90428264-A-T c.6404T>A p.I2135N Missense 43/102 - 1
6-90428268-G-A c.6400C>T p.L2134F Missense 43/102 - 2
6-90428269-G-A c.6399C>T p.L2133= Synonymous 43/102 - 1
6-90428289-C-A c.6379G>T p.A2127S Missense 43/102 - 1
6-90428290-C-T c.6378G>A p.R2126= Synonymous 43/102 - 1
6-90428291-C-T c.6377G>A p.R2126K Missense 43/102 - 2
6-90428292-T-C c.6376A>G p.R2126G Missense 43/102 - 3
6-90428295-C-T c.6373G>A p.V2125I Missense 43/102 - 2
6-90428306-A-C c.6362T>G p.V2121G Missense 43/102 - 1
6-90428307-C-T c.6361G>A p.V2121M Missense 43/102 - 6
6-90428311-C-T c.6357G>A p.E2119= Synonymous 43/102 - 3
6-90428321-C-A c.6347G>T p.R2116M Missense 43/102 - 1
6-90428324-CT-TG c.6343_6344delinsCA p.R2115Q Missense 43/102 - 1
6-90428326-C-A c.6342G>T p.W2114C Missense 43/102 - 1
6-90428326-C-G c.6342G>C p.W2114C Missense 43/102 - 1
6-90428326-C-T c.6342G>A p.W2114* Nonsense 43/102 - 3
6-90428327-C-T c.6341G>A p.W2114* Nonsense 43/102 - 2
6-90428330-G-A c.6338C>T p.P2113L Missense 43/102 - 1
6-90428330-G-T c.6338C>A p.P2113H Missense 43/102 - 1
6-90428333-C-T c.6335G>A p.R2112Q Missense 43/102 - 4
6-90428334-G-A c.6334C>T p.R2112* Nonsense 43/102 - 3
6-90428335-T-G c.6333A>C p.I2111= Synonymous 43/102 - 1
6-90428356-C-T c.6322-10G>A - IntronicSNV - 42/101 1
6-90428420-A-T c.6321+66T>A - IntronicSNV - 42/101 1
6-90428501-C-G c.6306G>C p.L2102= Synonymous 42/102 - 1
6-90428501-C-T c.6306G>A p.L2102= Synonymous 42/102 - 1
6-90428504-C-A c.6303G>T p.L2101= Synonymous 42/102 - 1
6-90428516-A-C c.6291T>G p.D2097E Missense 42/102 - 1
6-90428516-A-T c.6291T>A p.D2097E Missense 42/102 - 1
6-90428518-C-T c.6289G>A p.D2097N Missense 42/102 - 1
6-90428526-C-T c.6281G>A p.S2094N Missense 42/102 - 1
6-90428528-G-A c.6279C>T p.N2093= Synonymous 42/102 - 3
6-90428530-T-C c.6277A>G p.N2093D Missense 42/102 - 1
6-90428530-T-G c.6277A>C p.N2093H Missense 42/102 - 1
6-90428535-G-A c.6272C>T p.A2091V Missense 42/102 - 2
6-90428536-C-T c.6271G>A p.A2091T Missense 42/102 - 2
6-90428546-T-C c.6261A>G p.L2087= Synonymous 42/102 - 1
6-90428556-C-G c.6251G>C p.G2084A Missense 42/102 - 1
6-90428563-G-C c.6244C>G p.L2082V Missense 42/102 - 1
6-90428568-G-A c.6239C>T p.A2080V Missense 42/102 - 2
6-90428581-C-T c.6226G>A p.V2076I Missense 42/102 - 2
6-90428585-G-A c.6222C>T p.S2074= Synonymous 42/102 - 2
6-90428588-G-A c.6219C>T p.T2073= Synonymous 42/102 - 1
6-90428595-C-T c.6212G>A p.G2071D Missense 42/102 - 1
6-90428599-C-T c.6208G>A p.V2070M Missense 42/102 - 1
6-90428603-G-A c.6204C>T p.A2068= Synonymous 42/102 - 1
6-90428605-C-T c.6202G>A p.A2068T Missense 42/102 - 1
6-90428609-C-T c.6198G>A p.G2066= Synonymous 42/102 - 1
6-90428612-G-A c.6195C>T p.V2065= Synonymous 42/102 - 3
6-90428615-C-A c.6192G>T p.L2064= Synonymous 42/102 - 1
6-90428617-G-A c.6190C>T p.L2064= Synonymous 42/102 - 3
6-90428620-T-C c.6187A>G p.I2063V Missense 42/102 - 1
6-90428622-A-G c.6185T>C p.V2062A Missense 42/102 - 2
6-90428631-C-T c.6176G>A p.S2059N Missense 42/102 - 1
6-90428633-C-A c.6174G>T p.M2058I Missense 42/102 - 1
6-90428633-C-G c.6174G>C p.M2058I Missense 42/102 - 1
6-90428633-C-T c.6174G>A p.M2058I Missense 42/102 - 1
6-90428637-T-G c.6170A>C p.Q2057P Missense 42/102 - 1
6-90428638-G-A c.6169C>T p.Q2057* Nonsense 42/102 - 1
6-90428642-A-T c.6165T>A p.C2055* Nonsense 42/102 - 4
6-90428647-T-A c.6160A>T p.K2054* Nonsense 42/102 - 1
6-90428654-TGA-GTT c.6151_6153delinsAAC p.S2051N Missense 42/102 - 1
6-90428664-G-A c.6143C>T p.P2048L Missense 42/102 - 4
6-90428665-G-C c.6142C>G p.P2048A Missense 42/102 - 1
6-90428666-T-C c.6141A>G p.Q2047= Synonymous 42/102 - 1
6-90428670-A-T c.6137T>A p.F2046Y Missense 42/102 - 1
6-90428672-T-A c.6135A>T p.S2045= Synonymous 42/102 - 1
6-90428672-T-C c.6135A>G p.S2045= Synonymous 42/102 - 1
6-90428672-T-G c.6135A>C p.S2045= Synonymous 42/102 - 1
6-90428680-G-A c.6127C>T p.H2043Y Missense 42/102 - 4
6-90428683-G-A c.6124C>T p.L2042= Synonymous 42/102 - 1
6-90428687-C-A c.6120G>T p.L2040F Missense 42/102 - 1
6-90428687-C-G c.6120G>C p.L2040F Missense 42/102 - 1
6-90428692-G-T c.6115C>A p.L2039M Missense 42/102 - 1
6-90428700-CG-GT c.6106_6107delinsAC p.R2036T Missense 42/102 - 1
6-90428700-C-T c.6107G>A p.R2036H Missense 42/102 - 1
6-90428702-G-A c.6105C>T p.S2035= Synonymous 42/102 - 4
6-90428705-C-A c.6102G>T p.P2034= Synonymous 42/102 - 1
6-90428705-C-G c.6102G>C p.P2034= Synonymous 42/102 - 1
6-90428705-C-T c.6102G>A p.P2034= Synonymous 42/102 - 2
6-90428706-G-C c.6101C>G p.P2034R Missense 42/102 - 1
6-90428708-G-C c.6099C>G p.H2033Q Missense 42/102 - 1
6-90428708-G-T c.6099C>A p.H2033Q Missense 42/102 - 1
6-90428712-G-A c.6095C>T p.P2032L Missense 42/102 - 1
6-90428724-C-A c.6083G>T p.G2028V Missense 42/102 - 3
6-90428725-C-A c.6082G>T p.G2028W Missense 42/102 - 1
6-90428729-G-A c.6078C>T p.S2026= Synonymous 42/102 - 2
6-90428730-G-A c.6077C>T p.S2026F Missense 42/102 - 1
6-90428735-GAC-CAT c.6070_6072delinsATG p.V2024M Missense 42/102 - 1
6-90428736-A-T c.6071T>A p.V2024D Missense 42/102 - 1
6-90428737-C-T c.6070G>A p.V2024I Missense 42/102 - 2
6-90428738-T-A c.6069A>T p.S2023= Synonymous 42/102 - 1
6-90428738-T-C c.6069A>G p.S2023= Synonymous 42/102 - 1
6-90428738-T-G c.6069A>C p.S2023= Synonymous 42/102 - 1
6-90428739-G-C c.6068C>G p.S2023* Nonsense 42/102 - 1
6-90428742-T-C c.6065A>G p.Y2022C Missense 42/102 - 3
6-90428745-C-G c.6062G>C p.G2021A Missense 42/102 - 1
6-90428747-C-A c.6060G>T p.L2020F Missense 42/102 - 1
6-90428747-C-G c.6060G>C p.L2020F Missense 42/102 - 1
6-90428854-C-G c.6057+1G>C - IntronicSNV - 41/101 1
6-90428855-C-A c.6057G>T p.Q2019H Missense 41/102 - 1
6-90428855-C-G c.6057G>C p.Q2019H Missense 41/102 - 1
6-90428860-C-A c.6052G>T p.V2018F Missense 41/102 - 1
6-90428859-ACAT-A c.6050_6052del p.D2017del InFrameDeletion 41/102 - 1
6-90428865-T-A c.6047A>T p.Y2016F Missense 41/102 - 3
6-90428865-T-C c.6047A>G p.Y2016C Missense 41/102 - 1
6-90428868-G-A c.6044C>T p.P2015L Missense 41/102 - 1
6-90428875-T-G c.6037A>C p.I2013L Missense 41/102 - 1
6-90428877-C-T c.6035G>A p.R2012H Missense 41/102 - 1
6-90428878-G-A c.6034C>T p.R2012C Missense 41/102 - 3
6-90428894-C-A c.6018G>T p.M2006I Missense 41/102 - 1
6-90428894-C-G c.6018G>C p.M2006I Missense 41/102 - 1
6-90428894-C-T c.6018G>A p.M2006I Missense 41/102 - 1
6-90428897-G-A c.6015C>T p.Y2005= Synonymous 41/102 - 1
6-90428904-T-C c.6008A>G p.N2003S Missense 41/102 - 1
6-90428912-TG-AC c.5999_6000delinsGT p.S2000C Missense 41/102 - 1
6-90428926-C-T c.5986G>A p.D1996N Missense 41/102 - 1
6-90428930-G-A c.5982C>T p.F1994= Synonymous 41/102 - 2
6-90428935-C-T c.5977G>A p.V1993I Missense 41/102 - 1
6-90428939-A-G c.5973T>C p.I1991= Synonymous 41/102 - 1
6-90428939-A-T c.5973T>A p.I1991= Synonymous 41/102 - 1
6-90428968-G-A c.5968-24C>T - IntronicSNV - 40/101 7
6-90428984-C-G c.5968-40G>C - IntronicSNV - 40/101 1
6-90428984-C-T c.5968-40G>A - IntronicSNV - 40/101 1
6-90430856-CA-C c.5967+1817del - IntronicDeletion - 40/101 1
6-90430966-A-C c.5967+1708T>G - IntronicSNV - 40/101 1
6-90430966-A-T c.5967+1708T>A - IntronicSNV - 40/101 1
6-90430972-G-A c.5967+1702C>T - IntronicSNV - 40/101 1
6-90430972-G-C c.5967+1702C>G - IntronicSNV - 40/101 1
6-90431135-G-A c.5967+1539C>T - IntronicSNV - 40/101 1
6-90431202-T-C c.5967+1472A>G - IntronicSNV - 40/101 1
6-90431220-T-G c.5967+1454A>C - IntronicSNV - 40/101 1
6-90431366-G-A c.5967+1308C>T - IntronicSNV - 40/101 2
6-90431375-C-T c.5967+1299G>A - IntronicSNV - 40/101 2
6-90431719-G-A c.5967+955C>T - IntronicSNV - 40/101 1
6-90432584-A-AT c.5967+89_5967+90insA - IntronicInsertion - 40/101 3
6-90432584-A-G c.5967+90T>C - IntronicSNV - 40/101 3
6-90432584-A-T c.5967+90T>A - IntronicSNV - 40/101 6
6-90432565-CA-C c.5967+108del - IntronicDeletion - 40/101 2
6-90432604-T-C c.5967+70A>G - IntronicSNV - 40/101 1
6-90432621-A-G c.5967+53T>C - IntronicSNV - 40/101 5
6-90432662-C-A c.5967+12G>T - IntronicSNV - 40/101 5
6-90432662-C-T c.5967+12G>A - IntronicSNV - 40/101 7
6-90432673-C-CT c.5967_5967+1insA p.V1990Sfs*28 SpliceDonorInsertion - - 1
6-90432675-T-A c.5966A>T p.K1989M Missense 40/102 - 1
6-90432676-T-A c.5965A>T p.K1989* Nonsense 40/102 - 1
6-90432676-T-C c.5965A>G p.K1989E Missense 40/102 - 1
6-90432676-T-G c.5965A>C p.K1989Q Missense 40/102 - 1
6-90432676-T-TA c.5964_5965insT p.K1989* Nonsense 40/102 - 3
6-90432674-CTT-C c.5965_5966del p.K1989Gfs*28 SpliceDonorDeletion 40/102 - 3
6-90432674-C-CT c.5966dup p.V1990Gfs*28 SpliceDonorInsertion 40/102 - 1
6-90432674-CT-C c.5966del p.K1989Rfs*65 Frameshift 40/102 - 15
6-90432683-G-T c.5958C>A p.D1986E Missense 40/102 - 1
6-90432691-C-A c.5950G>T p.E1984* Nonsense 40/102 - 1
6-90432691-C-T c.5950G>A p.E1984K Missense 40/102 - 3
6-90432692-G-A c.5949C>T p.T1983= Synonymous 40/102 - 1
6-90432692-G-C c.5949C>G p.T1983= Synonymous 40/102 - 1
6-90432692-G-T c.5949C>A p.T1983= Synonymous 40/102 - 1
6-90432696-C-A c.5945G>T p.R1982I Missense 40/102 - 1
6-90432698-C-G c.5943G>C p.M1981I Missense 40/102 - 1
6-90432711-T-C c.5930A>G p.Y1977C Missense 40/102 - 1
6-90432715-C-T c.5926G>A p.V1976I Missense 40/102 - 1
6-90432732-C-G c.5909G>C p.G1970A Missense 40/102 - 1
6-90432732-C-T c.5909G>A p.G1970D Missense 40/102 - 2
6-90432733-C-T c.5908G>A p.G1970S Missense 40/102 - 1
6-90432737-A-C c.5904T>G p.D1968E Missense 40/102 - 1
6-90432737-A-T c.5904T>A p.D1968E Missense 40/102 - 1
6-90432741-T-C c.5900A>G p.Y1967C Missense 40/102 - 2
6-90432744-C-A c.5897G>T p.C1966F Missense 40/102 - 1
6-90432746-C-T c.5895G>A p.G1965= Synonymous 40/102 - 2
6-90432747-C-A c.5894G>T p.G1965V Missense 40/102 - 2
6-90432751-G-A c.5890C>T p.P1964S Missense 40/102 - 1
6-90432760-C-T c.5881G>A p.D1961N Missense 40/102 - 1
6-90432763-C-T c.5878G>A p.V1960I Missense 40/102 - 2
6-90432764-C-A c.5877G>T p.L1959= Synonymous 40/102 - 1
6-90432766-G-C c.5875C>G p.L1959V Missense 40/102 - 2
6-90432767-C-A c.5874G>T p.M1958I Missense 40/102 - 1
6-90432767-C-G c.5874G>C p.M1958I Missense 40/102 - 1
6-90432767-C-T c.5874G>A p.M1958I Missense 40/102 - 3
6-90432777-C-T c.5864G>A p.C1955Y Missense 40/102 - 1
6-90432783-C-T c.5858G>A p.R1953H Missense 40/102 - 1
6-90432784-G-A c.5857C>T p.R1953C Missense 40/102 - 2
6-90432793-C-A c.5848G>T p.D1950Y Missense 40/102 - 1
6-90432795-C-A c.5846G>T p.R1949L Missense 40/102 - 1
6-90432796-G-A c.5845C>T p.R1949W Missense 40/102 - 8
6-90432803-G-C c.5838C>G p.F1946L Missense 40/102 - 1
6-90432808-C-T c.5833G>A p.E1945K Missense 40/102 - 2
6-90432809-C-A c.5832G>T p.W1944C Missense 40/102 - 2
6-90432809-C-G c.5832G>C p.W1944C Missense 40/102 - 1
6-90432812-G-A c.5829C>T p.P1943= Synonymous 40/102 - 1
6-90432812-G-C c.5829C>G p.P1943= Synonymous 40/102 - 1
6-90432812-G-T c.5829C>A p.P1943= Synonymous 40/102 - 1
6-90432816-C-G c.5825G>C p.G1942A Missense 40/102 - 1
6-90432820-CT-C c.5820del p.G1941Efs*17 Frameshift 40/102 - 1
6-90432827-C-T c.5814G>A p.G1938= Synonymous 40/102 - 3
6-90432830-C-T c.5811G>A p.W1937* Nonsense 40/102 - 3
6-90432833-T-G c.5808A>C p.K1936N Missense 40/102 - 1
6-90432837-T-C c.5804A>G p.K1935R Missense 40/102 - 3
6-90432841-C-G c.5800G>C p.E1934Q Missense 40/102 - 1
6-90432853-C-T c.5788G>A p.E1930K Missense 40/102 - 1
6-90432856-G-A c.5785C>T p.H1929Y Missense 40/102 - 3
6-90432856-G-C c.5785C>G p.H1929D Missense 40/102 - 2
6-90432859-C-G c.5782G>C p.D1928H Missense 40/102 - 1
6-90433224-T-C c.5778+7A>G - IntronicSNV - 39/101 1
6-90433230-C-T c.5778+1G>A - IntronicSNV - 39/101 1
6-90433234-G-A c.5775C>T p.N1925= Synonymous 39/102 - 3
6-90433244-G-A c.5765C>T p.A1922V Missense 39/102 - 1
6-90433245-C-A c.5764G>T p.A1922S Missense 39/102 - 1
6-90433248-C-T c.5761G>A p.V1921I Missense 39/102 - 2
6-90433262-A-G c.5747T>C p.I1916T Missense 39/102 - 1
6-90433270-C-T c.5739G>A p.E1913= Synonymous 39/102 - 1
6-90433281-G-C c.5728C>G p.P1910A Missense 39/102 - 1
6-90433282-A-C c.5727T>G p.F1909L Missense 39/102 - 1
6-90433282-A-T c.5727T>A p.F1909L Missense 39/102 - 1
6-90433284-A-G c.5725T>C p.F1909L Missense 39/102 - 1
6-90433285-C-T c.5724G>A p.L1908= Synonymous 39/102 - 1
6-90433287-A-G c.5722T>C p.L1908= Synonymous 39/102 - 1
6-90433295-G-A c.5714C>T p.A1905V Missense 39/102 - 1
6-90433300-G-A c.5709C>T p.F1903= Synonymous 39/102 - 1
6-90433303-C-A c.5706G>T p.E1902D Missense 39/102 - 1
6-90433303-C-G c.5706G>C p.E1902D Missense 39/102 - 1
6-90433306-C-A c.5703G>T p.M1901I Missense 39/102 - 1
6-90433306-C-G c.5703G>C p.M1901I Missense 39/102 - 1
6-90433306-C-T c.5703G>A p.M1901I Missense 39/102 - 1
6-90433310-T-C c.5699A>G p.D1900G Missense 39/102 - 1
6-90433310-T-G c.5699A>C p.D1900A Missense 39/102 - 1
6-90433311-C-A c.5698G>T p.D1900Y Missense 39/102 - 1
6-90433329-C-T c.5680G>A p.D1894N Missense 39/102 - 1
6-90433333-G-A c.5676C>T p.F1892= Synonymous 39/102 - 2
6-90434918-C-G c.5670G>C p.Q1890H Missense 38/102 - 1
6-90434919-CTGAGTGAATCTGTTAAGGAAAGACCTG-C c.5643_5669del p.R1882_Q1890del SpliceDonorDeletion 38/102 - 1
6-90434920-G-A c.5668C>T p.Q1890* Nonsense 38/102 - 3
6-90434922-G-A c.5666C>T p.T1889I Missense 38/102 - 2
6-90434922-GT-CA c.5665_5666delinsTG p.T1889C Missense 38/102 - 1
6-90434932-T-C c.5656A>G p.N1886D Missense 38/102 - 2
6-90434935-G-T c.5653C>A p.L1885I Missense 38/102 - 1
6-90434936-G-A c.5652C>T p.F1884= Synonymous 38/102 - 2
6-90434948-C-A c.5640G>T p.L1880F Missense 38/102 - 1
6-90434952-C-A c.5636G>T p.G1879V Missense 38/102 - 1
6-90434957-C-G c.5631G>C p.R1877S Missense 38/102 - 1
6-90434961-C-A c.5627G>T p.G1876V Missense 38/102 - 2
6-90434961-C-T c.5627G>A p.G1876E Missense 38/102 - 1
6-90434965-C-T c.5623G>A p.G1875S Missense 38/102 - 1
6-90434966-TC-GT c.5621_5622delinsAC p.G1874D Missense 38/102 - 1
6-90434973-C-G c.5615G>C p.R1872T Missense 38/102 - 1
6-90434985-T-C c.5603A>G p.Q1868R Missense 38/102 - 3
6-90434986-G-A c.5602C>T p.Q1868* Nonsense 38/102 - 2
6-90434990-C-A c.5598G>T p.G1866= Synonymous 38/102 - 1
6-90434990-C-G c.5598G>C p.G1866= Synonymous 38/102 - 1
6-90434990-C-T c.5598G>A p.G1866= Synonymous 38/102 - 1
6-90434993-A-G c.5595T>C p.F1865= Synonymous 38/102 - 1
6-90434994-A-C c.5594T>G p.F1865C Missense 38/102 - 2
6-90434994-A-T c.5594T>A p.F1865Y Missense 38/102 - 1
6-90434996-A-G c.5592T>C p.I1864= Synonymous 38/102 - 1
6-90434996-A-T c.5592T>A p.I1864= Synonymous 38/102 - 1
6-90434997-A-T c.5591T>A p.I1864N Missense 38/102 - 1
6-90435002-C-A c.5586G>T p.T1862= Synonymous 38/102 - 2
6-90435002-C-G c.5586G>C p.T1862= Synonymous 38/102 - 1
6-90435002-C-T c.5586G>A p.T1862= Synonymous 38/102 - 3
6-90435003-G-A c.5585C>T p.T1862M Missense 38/102 - 1
6-90435005-C-A c.5583G>T p.K1861N Missense 38/102 - 1
6-90435005-C-G c.5583G>C p.K1861N Missense 38/102 - 1
6-90435005-C-T c.5583G>A p.K1861= Synonymous 38/102 - 1
6-90435021-T-C c.5567A>G p.Q1856R Missense 38/102 - 1
6-90435021-T-G c.5567A>C p.Q1856P Missense 38/102 - 1
6-90435026-G-A c.5562C>T p.S1854= Synonymous 38/102 - 1
6-90435033-C-G c.5555G>C p.G1852A Missense 38/102 - 1
6-90435040-C-A c.5548G>T p.E1850* Nonsense 38/102 - 3
6-90435043-G-A c.5545C>T p.P1849S Missense 38/102 - 2
6-90435057-C-G c.5531G>C p.G1844A Missense 38/102 - 1
6-90435060-C-T c.5528G>A p.R1843Q Missense 38/102 - 2
6-90435078-T-G c.5510A>C p.N1837T Missense 38/102 - 3
6-90435082-G-A c.5506C>T p.L1836F Missense 38/102 - 1
6-90435084-C-G c.5504G>C p.G1835A Missense 38/102 - 1
6-90435085-C-T c.5503G>A p.G1835R Missense 38/102 - 1
6-90435088-C-T c.5500G>A p.E1834K Missense 38/102 - 1
6-90435100-G-A c.5488C>T p.Q1830* Nonsense 38/102 - 1
6-90435105-G-C c.5483C>G p.A1828G Missense 38/102 - 1
6-90435105-G-T c.5483C>A p.A1828D Missense 38/102 - 1
6-90435107-CAG-AAA c.5479_5481delinsTTT p.L1827F Missense 38/102 - 1
6-90435107-CCAG-C c.5479_5481del p.L1827del InFrameDeletion 38/102 - 1
6-90436798-CA-C c.5472+753del - IntronicDeletion - 37/101 1
6-90437546-C-T c.5472+6G>A - IntronicSNV - 37/101 3
6-90437554-C-T c.5470G>A p.E1824K Missense 37/102 - 1
6-90437568-C-A c.5456G>T p.W1819L Missense 37/102 - 2
6-90437571-T-C c.5453A>G p.H1818R Missense 37/102 - 1
6-90437574-C-A c.5450G>T p.G1817V Missense 37/102 - 1
6-90437578-C-A c.5446G>T p.A1816S Missense 37/102 - 1
6-90437579-C-A c.5445G>T p.K1815N Missense 37/102 - 1
6-90437580-T-C c.5444A>G p.K1815R Missense 37/102 - 1
6-90437588-T-C c.5436A>G p.A1812= Synonymous 37/102 - 1
6-90437589-G-T c.5435C>A p.A1812E Missense 37/102 - 1
6-90437591-C-T c.5433G>A p.L1811= Synonymous 37/102 - 1
6-90437596-A-G c.5428T>C p.L1810= Synonymous 37/102 - 1
6-90437598-G-A c.5426C>T p.P1809L Missense 37/102 - 1
6-90437601-C-A c.5423G>T p.G1808V Missense 37/102 - 1
6-90437605-C-T c.5419G>A p.D1807N Missense 37/102 - 1
6-90437607-C-T c.5417G>A p.R1806H Missense 37/102 - 1
6-90437612-G-A c.5412C>T p.A1804= Synonymous 37/102 - 1
6-90437614-C-G c.5410G>C p.A1804P Missense 37/102 - 1
6-90437616-A-G c.5408T>C p.F1803S Missense 37/102 - 1
6-90437619-T-A c.5405A>T p.E1802V Missense 37/102 - 1
6-90437631-C-G c.5393G>C p.G1798A Missense 37/102 - 1
6-90437635-C-T c.5389G>A p.G1797S Missense 37/102 - 1
6-90437636-T-G c.5388A>C p.E1796D Missense 37/102 - 1
6-90437640-A-G c.5384T>C p.V1795A Missense 37/102 - 1
6-90437647-G-A c.5377C>T p.L1793= Synonymous 37/102 - 1
6-90437650-C-G c.5374G>C p.D1792H Missense 37/102 - 1
6-90437651-T-A c.5373A>T p.A1791= Synonymous 37/102 - 1
6-90437651-T-C c.5373A>G p.A1791= Synonymous 37/102 - 1
6-90437651-T-G c.5373A>C p.A1791= Synonymous 37/102 - 1
6-90437660-C-A c.5364G>T p.L1788= Synonymous 37/102 - 1
6-90437660-C-G c.5364G>C p.L1788= Synonymous 37/102 - 1
6-90437660-C-T c.5364G>A p.L1788= Synonymous 37/102 - 3
6-90437662-G-A c.5362C>T p.L1788= Synonymous 37/102 - 1
6-90437674-C-A c.5350G>T p.D1784Y Missense 37/102 - 1
6-90437699-G-A c.5350-25C>T - IntronicSNV - 36/101 8
6-90437954-A-T c.5350-280T>A - IntronicSNV - 36/101 1
6-90438580-G-A c.5349+70C>T - IntronicSNV - 36/101 1
6-90438631-G-T c.5349+19C>A - IntronicSNV - 36/101 2
6-90438644-G-A c.5349+6C>T - IntronicSNV - 36/101 1
6-90438650-C-G c.5349G>C p.T1783= Synonymous 36/102 - 1
6-90438651-G-A c.5348C>T p.T1783M Missense 36/102 - 2
6-90438687-C-T c.5312G>A p.G1771E Missense 36/102 - 1
6-90438688-C-T c.5311G>A p.G1771R Missense 36/102 - 1
6-90438695-C-T c.5304G>A p.K1768= Synonymous 36/102 - 2
6-90438701-T-C c.5298A>G p.L1766= Synonymous 36/102 - 1
6-90438707-T-A c.5292A>T p.G1764= Synonymous 36/102 - 1
6-90438707-T-C c.5292A>G p.G1764= Synonymous 36/102 - 1
6-90438707-T-G c.5292A>C p.G1764= Synonymous 36/102 - 1
6-90438714-AA-GG c.5284_5285delinsCC p.L1762P Missense 36/102 - 2
6-90438717-C-T c.5282G>A p.S1761N Missense 36/102 - 1
6-90438726-C-T c.5273G>A p.G1758D Missense 36/102 - 3
6-90438727-C-G c.5272G>C p.G1758R Missense 36/102 - 1
6-90438730-C-T c.5269G>A p.V1757I Missense 36/102 - 2
6-90438741-C-A c.5258G>T p.G1753V Missense 36/102 - 1
6-90438741-C-G c.5258G>C p.G1753A Missense 36/102 - 1
6-90438745-C-T c.5254G>A p.E1752K Missense 36/102 - 2
6-90438746-C-T c.5253G>A p.L1751= Synonymous 36/102 - 1
6-90438751-G-A c.5248C>T p.L1750F Missense 36/102 - 2
6-90438764-C-A c.5235G>T p.L1745= Synonymous 36/102 - 1
6-90438764-C-G c.5235G>C p.L1745= Synonymous 36/102 - 1
6-90438764-C-T c.5235G>A p.L1745= Synonymous 36/102 - 1
6-90438766-G-A c.5233C>T p.L1745= Synonymous 36/102 - 1
6-90438775-C-A c.5224G>T p.A1742S Missense 36/102 - 3
6-90438775-C-T c.5224G>A p.A1742T Missense 36/102 - 1
6-90438777-C-T c.5222G>A p.R1741K Missense 36/102 - 1
6-90438782-G-C c.5217C>G p.L1739= Synonymous 36/102 - 1
6-90438786-C-T c.5213G>A p.R1738K Missense 36/102 - 2
6-90438790-G-C c.5209C>G p.Q1737E Missense 36/102 - 1
6-90438796-T-G c.5203A>C p.N1735H Missense 36/102 - 1
6-90438806-G-A c.5193C>T p.T1731= Synonymous 36/102 - 2
6-90438806-G-C c.5193C>G p.T1731= Synonymous 36/102 - 2
6-90438806-G-T c.5193C>A p.T1731= Synonymous 36/102 - 2
6-90438816-C-A c.5183G>T p.S1728I Missense 36/102 - 1
6-90438833-A-G c.5166T>C p.I1722= Synonymous 36/102 - 1
6-90438833-A-T c.5166T>A p.I1722= Synonymous 36/102 - 1
6-90438841-T-G c.5158A>C p.N1720H Missense 36/102 - 2
6-90438848-T-A c.5151A>T p.L1717= Synonymous 36/102 - 2
6-90438848-T-C c.5151A>G p.L1717= Synonymous 36/102 - 1
6-90438848-T-G c.5151A>C p.L1717= Synonymous 36/102 - 1
6-90438850-G-A c.5149C>T p.L1717= Synonymous 36/102 - 1
6-90438858-C-G c.5141G>C p.G1714A Missense 36/102 - 1
6-90440443-A-G c.5140+2T>C - IntronicSNV - 35/101 1
6-90440454-TA-T c.5130del p.F1710Lfs*25 Frameshift 35/102 - 1
6-90440461-T-A c.5124A>T p.P1708= Synonymous 35/102 - 1
6-90440462-G-A c.5123C>T p.P1708L Missense 35/102 - 2
6-90440466-G-T c.5119C>A p.H1707N Missense 35/102 - 1
6-90440468-A-C c.5117T>G p.I1706S Missense 35/102 - 3
6-90440471-C-G c.5114G>C p.G1705A Missense 35/102 - 1
6-90440489-C-G c.5096G>C p.G1699A Missense 35/102 - 1
6-90440489-C-T c.5096G>A p.G1699E Missense 35/102 - 3
6-90440492-G-A c.5093C>T p.T1698I Missense 35/102 - 1
6-90440492-G-C c.5093C>G p.T1698S Missense 35/102 - 1
6-90440493-T-A c.5092A>T p.T1698S Missense 35/102 - 1
6-90440494-G-A c.5091C>T p.F1697= Synonymous 35/102 - 1
6-90440499-C-A c.5086G>T p.E1696* Nonsense 35/102 - 1
6-90440499-C-T c.5086G>A p.E1696K Missense 35/102 - 5
6-90440503-G-A c.5082C>T p.A1694= Synonymous 35/102 - 1
6-90440503-G-C c.5082C>G p.A1694= Synonymous 35/102 - 1
6-90440503-G-T c.5082C>A p.A1694= Synonymous 35/102 - 1
6-90440504-G-A c.5081C>T p.A1694V Missense 35/102 - 2
6-90440508-T-G c.5077A>C p.K1693Q Missense 35/102 - 1
6-90440520-A-T c.5065T>A p.Y1689N Missense 35/102 - 2
6-90440524-C-A c.5061G>T p.K1687N Missense 35/102 - 1
6-90440524-C-G c.5061G>C p.K1687N Missense 35/102 - 1
6-90440525-T-C c.5060A>G p.K1687R Missense 35/102 - 1
6-90440529-A-C c.5056T>G p.L1686V Missense 35/102 - 1
6-90440532-C-A c.5053G>T p.E1685* Nonsense 35/102 - 4
6-90440532-C-G c.5053G>C p.E1685Q Missense 35/102 - 2
6-90440535-T-TA c.5049_5050insT p.N1684* Nonsense 35/102 - 1
6-90440536-T-A c.5049A>T p.K1683N Missense 35/102 - 3
6-90440536-T-G c.5049A>C p.K1683N Missense 35/102 - 2
6-90440533-A-AT c.5051dup p.N1684Kfs*2 Frameshift 35/102 - 1
6-90440541-G-A c.5044C>T p.Q1682* Nonsense 35/102 - 3
6-90440542-A-C c.5043T>G p.Y1681* Nonsense 35/102 - 2
6-90440542-A-T c.5043T>A p.Y1681* Nonsense 35/102 - 2
6-90440544-A-G c.5041T>C p.Y1681H Missense 35/102 - 1
6-90440549-G-A c.5036C>T p.T1679I Missense 35/102 - 2
6-90440553-G-C c.5032C>G p.L1678V Missense 35/102 - 1
6-90440556-G-A c.5029C>T p.R1677* Nonsense 35/102 - 1
6-90440563-C-T c.5022G>A p.K1674= Synonymous 35/102 - 1
6-90440564-T-G c.5021A>C p.K1674T Missense 35/102 - 1
6-90440577-T-C c.5008A>G p.K1670E Missense 35/102 - 1
6-90440587-T-A c.4998A>T p.K1666N Missense 35/102 - 1
6-90440587-T-G c.4998A>C p.K1666N Missense 35/102 - 1
6-90440590-C-A c.4995G>T p.L1665= Synonymous 35/102 - 1
6-90440590-C-G c.4995G>C p.L1665= Synonymous 35/102 - 1
6-90440590-C-T c.4995G>A p.L1665= Synonymous 35/102 - 1
6-90440592-G-A c.4993C>T p.L1665= Synonymous 35/102 - 1
6-90440594-CA-GT c.4990_4991delinsAC p.C1664T Missense 35/102 - 1
6-90440594-C-T c.4991G>A p.C1664Y Missense 35/102 - 1
6-90440598-C-A c.4987G>T p.E1663* Nonsense 35/102 - 5
6-90440599-T-A c.4986A>T p.K1662N Missense 35/102 - 1
6-90440599-T-G c.4986A>C p.K1662N Missense 35/102 - 1
6-90440603-CG-TT c.4981_4982delinsAA p.R1661K Missense 35/102 - 1
6-90440603-C-T c.4982G>A p.R1661Q Missense 35/102 - 5
6-90440607-C-T c.4978G>A p.A1660T Missense 35/102 - 4
6-90440609-A-G c.4976T>C p.L1659S Missense 35/102 - 3
6-90440611-A-T c.4974T>A p.L1658= Synonymous 35/102 - 2
6-90440616-C-A c.4969G>T p.A1657S Missense 35/102 - 1
6-90440618-G-A c.4967C>T p.T1656I Missense 35/102 - 1
6-90440621-C-G c.4964G>C p.G1655A Missense 35/102 - 1
6-90440627-C-G c.4958G>C p.G1653A Missense 35/102 - 1
6-90440630-G-A c.4955C>T p.S1652F Missense 35/102 - 2
6-90440633-G-A c.4952C>T p.S1651F Missense 35/102 - 3
6-90440642-C-A c.4943G>T p.G1648V Missense 35/102 - 1
6-90442280-AC-A c.4937del p.G1646Vfs*4 Frameshift 34/102 - 1
6-90442282-C-G c.4936G>C p.G1646R Missense 34/102 - 1
6-90442288-C-G c.4930G>C p.G1644R Missense 34/102 - 1
6-90442288-C-T c.4930G>A p.G1644R Missense 34/102 - 1
6-90442291-C-T c.4927G>A p.D1643N Missense 34/102 - 1
6-90442293-A-T c.4925T>A p.I1642K Missense 34/102 - 1
6-90442303-G-C c.4915C>G p.L1639V Missense 34/102 - 4
6-90442305-C-A c.4913G>T p.C1638F Missense 34/102 - 1
6-90442309-C-T c.4909G>A p.A1637T Missense 34/102 - 1
6-90442322-A-G c.4896T>C p.S1632= Synonymous 34/102 - 1
6-90442323-G-A c.4895C>T p.S1632F Missense 34/102 - 1
6-90442326-G-A c.4892C>T p.T1631I Missense 34/102 - 2
6-90442330-C-T c.4888G>A p.V1630M Missense 34/102 - 1
6-90442335-G-A c.4883C>T p.S1628F Missense 34/102 - 2
6-90442342-T-A c.4876A>T p.I1626F Missense 34/102 - 1
6-90442342-T-C c.4876A>G p.I1626V Missense 34/102 - 1
6-90442343-C-T c.4875G>A p.E1625= Synonymous 34/102 - 1
6-90442354-T-C c.4864A>G p.K1622E Missense 34/102 - 2
6-90442355-C-G c.4863G>C p.L1621F Missense 34/102 - 1
6-90442356-A-G c.4862T>C p.L1621S Missense 34/102 - 1
6-90442363-C-T c.4855G>A p.A1619T Missense 34/102 - 1
6-90442369-C-T c.4849G>A p.E1617K Missense 34/102 - 1
6-90442371-C-T c.4847G>A p.G1616E Missense 34/102 - 1
6-90442380-T-C c.4838A>G p.N1613S Missense 34/102 - 2
6-90442382-C-A c.4836G>T p.M1612I Missense 34/102 - 3
6-90442382-C-G c.4836G>C p.M1612I Missense 34/102 - 3
6-90442382-C-T c.4836G>A p.M1612I Missense 34/102 - 4
6-90442392-A-C c.4826T>G p.V1609G Missense 34/102 - 1
6-90442402-G-T c.4816C>A p.L1606M Missense 34/102 - 1
6-90442416-C-T c.4802G>A p.S1601N Missense 34/102 - 1
6-90442426-A-G c.4792T>C p.C1598R Missense 34/102 - 3
6-90442427-C-A c.4791G>T p.K1597N Missense 34/102 - 1
6-90442427-C-G c.4791G>C p.K1597N Missense 34/102 - 3
6-90442429-T-A c.4789A>T p.K1597* Nonsense 34/102 - 1
6-90442434-C-G c.4784G>C p.G1595A Missense 34/102 - 1
6-90442444-G-A c.4774C>T p.Q1592* Nonsense 34/102 - 1
6-90442461-A-G c.4757T>C p.I1586T Missense 34/102 - 2
6-90442462-T-C c.4756A>G p.I1586V Missense 34/102 - 1
6-90442463-G-A c.4755C>T p.F1585= Synonymous 34/102 - 4
6-90442468-C-T c.4750G>A p.D1584N Missense 34/102 - 1
6-90442475-C-G c.4743G>C p.V1581= Synonymous 34/102 - 1
6-90442476-A-G c.4742T>C p.V1581A Missense 34/102 - 1
6-90442491-GA-TT c.4726_4727delinsAA p.S1576N Missense 34/102 - 1
6-90447924-C-T c.4723+121G>A - IntronicSNV - 33/101 2
6-90448046-T-C c.4722A>G p.K1574= Synonymous 33/102 - 1
6-90448052-A-G c.4716T>C p.D1572= Synonymous 33/102 - 1
6-90448059-C-T c.4709G>A p.R1570K Missense 33/102 - 1
6-90448061-G-A c.4707C>T p.G1569= Synonymous 33/102 - 1
6-90448061-G-C c.4707C>G p.G1569= Synonymous 33/102 - 1
6-90448061-G-T c.4707C>A p.G1569= Synonymous 33/102 - 2
6-90448063-C-T c.4705G>A p.G1569S Missense 33/102 - 1
6-90448077-G-A c.4691C>T p.P1564L Missense 33/102 - 2
6-90448081-G-A c.4687C>T p.R1563C Missense 33/102 - 4
6-90448084-G-T c.4684C>A p.L1562I Missense 33/102 - 2
6-90448091-A-G c.4677T>C p.S1559= Synonymous 33/102 - 1
6-90448092-C-T c.4676G>A p.S1559N Missense 33/102 - 43
6-90448100-C-A c.4668G>T p.Q1556H Missense 33/102 - 1
6-90448102-G-A c.4666C>T p.Q1556* Nonsense 33/102 - 1
6-90448114-C-T c.4654G>A p.E1552K Missense 33/102 - 3
6-90448115-ACG-CCA c.4651_4653delinsTGG p.R1551W Missense 33/102 - 1
6-90448117-G-A c.4651C>T p.R1551C Missense 33/102 - 2
6-90448131-G-A c.4637C>T p.P1546L Missense 33/102 - 1
6-90448132-G-C c.4636C>G p.P1546A Missense 33/102 - 1
6-90448134-CA-GT c.4633_4634delinsAC p.C1545T Missense 33/102 - 1
6-90448141-T-A c.4627A>T p.I1543L Missense 33/102 - 1
6-90448141-T-G c.4627A>C p.I1543L Missense 33/102 - 2
6-90448144-C-A c.4624G>T p.E1542* Nonsense 33/102 - 2
6-90448144-C-G c.4624G>C p.E1542Q Missense 33/102 - 1
6-90448144-C-T c.4624G>A p.E1542K Missense 33/102 - 1
6-90448152-C-A c.4616G>T p.R1539L Missense 33/102 - 2
6-90448152-C-T c.4616G>A p.R1539Q Missense 33/102 - 1
6-90448155-T-G c.4613A>C p.N1538T Missense 33/102 - 1
6-90448156-T-G c.4612A>C p.N1538H Missense 33/102 - 1
6-90448158-C-A c.4610G>T p.R1537I Missense 33/102 - 1
6-90448159-T-G c.4609A>C p.R1537= Synonymous 33/102 - 1
6-90448165-C-T c.4603G>A p.A1535T Missense 33/102 - 1
6-90449955-C-G c.4591G>C p.E1531Q Missense 32/102 - 1
6-90449961-T-G c.4585A>C p.K1529Q Missense 32/102 - 1
6-90449970-C-T c.4576G>A p.D1526N Missense 32/102 - 3
6-90449971-AC-CT c.4574_4575delinsAG p.G1525E Missense 32/102 - 1
6-90449974-C-T c.4572G>A p.G1524= Synonymous 32/102 - 1
6-90449992-T-C c.4554A>G p.L1518= Synonymous 32/102 - 1
6-90449993-A-G c.4553T>C p.L1518P Missense 32/102 - 2
6-90449994-G-A c.4552C>T p.L1518= Synonymous 32/102 - 1
6-90449996-A-AT c.4549dup p.I1517Nfs*10 Frameshift 32/102 - 1
6-90449998-AC-TT c.4547_4548delinsAA p.R1516Q Missense 32/102 - 1
6-90449999-C-T c.4547G>A p.R1516H Missense 32/102 - 1
6-90450000-G-A c.4546C>T p.R1516C Missense 32/102 - 11
6-90450000-G-T c.4546C>A p.R1516S Missense 32/102 - 2
6-90450002-A-C c.4544T>G p.F1515C Missense 32/102 - 2
6-90450005-T-G c.4541A>C p.K1514T Missense 32/102 - 1
6-90450007-T-A c.4539A>T p.K1513N Missense 32/102 - 1
6-90450010-C-A c.4536G>T p.G1512= Synonymous 32/102 - 1
6-90450010-C-G c.4536G>C p.G1512= Synonymous 32/102 - 1
6-90450010-C-T c.4536G>A p.G1512= Synonymous 32/102 - 1
6-90450011-C-T c.4535G>A p.G1512E Missense 32/102 - 1
6-90450019-C-T c.4527G>A p.L1509= Synonymous 32/102 - 6
6-90450020-A-T c.4526T>A p.L1509* Nonsense 32/102 - 1
6-90450021-A-G c.4525T>C p.L1509= Synonymous 32/102 - 4
6-90450024-G-T c.4522C>A p.L1508M Missense 32/102 - 1
6-90450026-T-A c.4520A>T p.E1507V Missense 32/102 - 11
6-90450032-T-A c.4514A>T p.E1505V Missense 32/102 - 1
6-90450046-C-T c.4500G>A p.E1500= Synonymous 32/102 - 2
6-90450048-C-A c.4498G>T p.E1500* Nonsense 32/102 - 1
6-90450049-T-G c.4497A>C p.P1499= Synonymous 32/102 - 1
6-90450051-G-A c.4495C>T p.P1499S Missense 32/102 - 1
6-90450052-ACT-CCTACC c.4492_4494delinsGGTAGG p.S1498delinsGR MultiAAMissense 32/102 - 1
6-90450053-C-T c.4493G>A p.S1498N Missense 32/102 - 1
6-90450058-T-A c.4488A>T p.K1496N Missense 32/102 - 1
6-90450058-T-G c.4488A>C p.K1496N Missense 32/102 - 1
6-90450061-T-A c.4485A>T p.E1495D Missense 32/102 - 2
6-90450061-T-G c.4485A>C p.E1495D Missense 32/102 - 2
6-90450075-G-T c.4471C>A p.L1491M Missense 32/102 - 1
6-90450076-AG-TT c.4469_4470delinsAA p.S1490* Nonsense 32/102 - 1
6-90450077-G-T c.4469C>A p.S1490Y Missense 32/102 - 2
6-90450088-T-C c.4458A>G p.E1486= Synonymous 32/102 - 1
6-90450094-G-A c.4452C>T p.V1484= Synonymous 32/102 - 3
6-90450101-A-C c.4449-4T>G - IntronicSNV - 31/101 3
6-90450101-A-G c.4449-4T>C - IntronicSNV - 31/101 3
6-90450101-A-T c.4449-4T>A - IntronicSNV - 31/101 3
6-90450135-A-G c.4449-38T>C - IntronicSNV - 31/101 6
6-90452808-GA-G c.4448+60del - IntronicDeletion - 31/101 1
6-90452865-G-A c.4448+4C>T - IntronicSNV - 31/101 5
6-90452878-C-A c.4439G>T p.R1480I Missense 31/102 - 1
6-90452882-C-A c.4435G>T p.E1479* Nonsense 31/102 - 1
6-90452888-C-T c.4429G>A p.V1477I Missense 31/102 - 1
6-90452894-C-A c.4423G>T p.D1475Y Missense 31/102 - 1
6-90452898-G-A c.4419C>T p.A1473= Synonymous 31/102 - 1
6-90452898-G-C c.4419C>G p.A1473= Synonymous 31/102 - 1
6-90452898-G-T c.4419C>A p.A1473= Synonymous 31/102 - 1
6-90452901-C-A c.4416G>T p.L1472F Missense 31/102 - 1
6-90452901-C-G c.4416G>C p.L1472F Missense 31/102 - 1
6-90452905-G-A c.4412C>T p.S1471L Missense 31/102 - 2
6-90452907-G-A c.4410C>T p.I1470= Synonymous 31/102 - 1
6-90452907-G-T c.4410C>A p.I1470= Synonymous 31/102 - 1
6-90452917-AA-GG c.4399_4400delinsCC p.L1467P Missense 31/102 - 2
6-90452921-G-A c.4396C>T p.L1466F Missense 31/102 - 1
6-90452922-G-A c.4395C>T p.F1465= Synonymous 31/102 - 2
6-90452925-A-C c.4392T>G p.F1464L Missense 31/102 - 1
6-90452925-A-T c.4392T>A p.F1464L Missense 31/102 - 1
6-90452927-A-G c.4390T>C p.F1464L Missense 31/102 - 1
6-90452930-C-T c.4387G>A p.G1463S Missense 31/102 - 2
6-90452936-C-T c.4381G>A p.E1461K Missense 31/102 - 1
6-90452937-C-T c.4380G>A p.K1460= Synonymous 31/102 - 1
6-90452952-C-A c.4365G>T p.L1455= Synonymous 31/102 - 1
6-90452952-C-G c.4365G>C p.L1455= Synonymous 31/102 - 2
6-90452952-C-T c.4365G>A p.L1455= Synonymous 31/102 - 1
6-90452954-G-A c.4363C>T p.L1455= Synonymous 31/102 - 1
6-90452956-G-T c.4361C>A p.P1454H Missense 31/102 - 1
6-90452967-C-A c.4350G>T p.W1450C Missense 31/102 - 1
6-90452967-C-G c.4350G>C p.W1450C Missense 31/102 - 1
6-90452973-A-G c.4344T>C p.F1448= Synonymous 31/102 - 1
6-90452976-G-A c.4341C>T p.L1447= Synonymous 31/102 - 1
6-90452988-G-T c.4329C>A p.D1443E Missense 31/102 - 1
6-90452990-C-T c.4327G>A p.D1443N Missense 31/102 - 1
6-90452993-T-C c.4324A>G p.I1442V Missense 31/102 - 1
6-90453248-T-C c.4317+47A>G - IntronicSNV - 30/101 5
6-90453256-G-GT c.4317+38dup - IntronicInsertion - 30/101 5
6-90453263-A-G c.4317+32T>C - IntronicSNV - 30/101 1
6-90453265-A-G c.4317+30T>C - IntronicSNV - 30/101 1
6-90453298-G-A c.4314C>T p.D1438= Synonymous 30/102 - 1
6-90453300-C-T c.4312G>A p.D1438N Missense 30/102 - 2
6-90453316-C-A c.4296G>T p.V1432= Synonymous 30/102 - 2
6-90453316-C-G c.4296G>C p.V1432= Synonymous 30/102 - 2
6-90453316-C-T c.4296G>A p.V1432= Synonymous 30/102 - 2
6-90453320-G-T c.4292C>A p.P1431Q Missense 30/102 - 1
6-90453321-G-A c.4291C>T p.P1431S Missense 30/102 - 1
6-90453323-C-G c.4289G>C p.R1430P Missense 30/102 - 1
6-90453322-C-A c.4290G>T p.R1430= Synonymous 30/102 - 1
6-90453322-C-G c.4290G>C p.R1430= Synonymous 30/102 - 1
6-90453322-C-T c.4290G>A p.R1430= Synonymous 30/102 - 1
6-90453324-G-A c.4288C>T p.R1430W Missense 30/102 - 5
6-90453324-G-T c.4288C>A p.R1430= Synonymous 30/102 - 1
6-90453325-C-T c.4287G>A p.L1429= Synonymous 30/102 - 2
6-90453333-C-T c.4279G>A p.G1427S Missense 30/102 - 6
6-90453342-C-G c.4270G>C p.D1424H Missense 30/102 - 1
6-90453343-T-A c.4269A>T p.S1423= Synonymous 30/102 - 1
6-90453343-T-C c.4269A>G p.S1423= Synonymous 30/102 - 1
6-90453343-T-G c.4269A>C p.S1423= Synonymous 30/102 - 2
6-90453344-G-A c.4268C>T p.S1423L Missense 30/102 - 1
6-90453351-C-G c.4261G>C p.E1421Q Missense 30/102 - 1
6-90453354-T-C c.4258A>G p.M1420V Missense 30/102 - 7
6-90453359-A-C c.4253T>G p.L1418* Nonsense 30/102 - 1
6-90453359-A-T c.4253T>A p.L1418* Nonsense 30/102 - 1
6-90453361-G-C c.4251C>G p.H1417Q Missense 30/102 - 1
6-90453361-G-T c.4251C>A p.H1417Q Missense 30/102 - 1
6-90453364-G-A c.4248C>T p.C1416= Synonymous 30/102 - 1
6-90453365-C-A c.4247G>T p.C1416F Missense 30/102 - 1
6-90453367-G-C c.4245C>G p.S1415R Missense 30/102 - 1
6-90453367-G-T c.4245C>A p.S1415R Missense 30/102 - 1
6-90453369-T-G c.4243A>C p.S1415R Missense 30/102 - 1
6-90453372-C-T c.4240G>A p.V1414I Missense 30/102 - 1
6-90453374-G-C c.4238C>G p.S1413C Missense 30/102 - 1
6-90453375-A-G c.4237T>C p.S1413P Missense 30/102 - 2
6-90453377-T-C c.4235A>G p.Y1412C Missense 30/102 - 1
6-90453385-C-T c.4227G>A p.Q1409= Synonymous 30/102 - 1
6-90453387-G-A c.4225C>T p.Q1409* Nonsense 30/102 - 1
6-90453394-C-T c.4218G>A p.L1406= Synonymous 30/102 - 1
6-90453396-A-G c.4216T>C p.L1406= Synonymous 30/102 - 1
6-90453395-AAGGCTGC-A c.4210_4216del p.A1404Wfs*27 Frameshift 30/102 - 1
6-90453398-G-A c.4214C>T p.A1405V Missense 30/102 - 1
6-90453399-C-A c.4213G>T p.A1405S Missense 30/102 - 1
6-90453402-C-T c.4210G>A p.A1404T Missense 30/102 - 1
6-90453410-T-G c.4202A>C p.Q1401P Missense 30/102 - 1
6-90453412-GACAGATAGTAGTTTTCC-G c.4184_4200del p.G1395Afs*43 Frameshift 30/102 - 1
6-90453419-G-C c.4193C>G p.T1398S Missense 30/102 - 1
6-90453420-T-A c.4192A>T p.T1398S Missense 30/102 - 1
6-90453420-T-C c.4192A>G p.T1398A Missense 30/102 - 1
6-90453431-C-T c.4181G>A p.C1394Y Missense 30/102 - 1
6-90453432-A-T c.4180T>A p.C1394S Missense 30/102 - 1
6-90454853-T-TA c.4178+138dup - IntronicInsertion - 29/101 1
6-90454872-AG-A c.4178+120del - IntronicDeletion - 29/101 1
6-90454872-G-A c.4178+120C>T - IntronicSNV - 29/101 1
6-90454879-G-A c.4178+113C>T - IntronicSNV - 29/101 1
6-90454980-A-G c.4178+12T>C - IntronicSNV - 29/101 1
6-90454995-G-A c.4175C>T p.T1392I Missense 29/102 - 3
6-90455005-C-G c.4165G>C p.V1389L Missense 29/102 - 1
6-90455013-A-C c.4157T>G p.V1386G Missense 29/102 - 1
6-90455022-C-T c.4148G>A p.G1383D Missense 29/102 - 1
6-90455024-A-G c.4146T>C p.F1382= Synonymous 29/102 - 1
6-90455032-A-G c.4138T>C p.L1380= Synonymous 29/102 - 1
6-90455034-G-C c.4136C>G p.A1379G Missense 29/102 - 1
6-90455037-C-T c.4133G>A p.R1378K Missense 29/102 - 2
6-90455040-C-T c.4130G>A p.G1377E Missense 29/102 - 1
6-90455051-C-A c.4119G>T p.A1373= Synonymous 29/102 - 1
6-90455051-C-G c.4119G>C p.A1373= Synonymous 29/102 - 1
6-90455051-C-T c.4119G>A p.A1373= Synonymous 29/102 - 1
6-90455052-G-A c.4118C>T p.A1373V Missense 29/102 - 1
6-90455053-C-A c.4117G>T p.A1373S Missense 29/102 - 1
6-90455053-C-T c.4117G>A p.A1373T Missense 29/102 - 1
6-90455056-G-A c.4114C>T p.L1372F Missense 29/102 - 2
6-90455058-C-G c.4112G>C p.R1371T Missense 29/102 - 1
6-90455061-C-T c.4109G>A p.R1370Q Missense 29/102 - 2
6-90455062-G-A c.4108C>T p.R1370W Missense 29/102 - 1
6-90455064-A-T c.4106T>A p.M1369K Missense 29/102 - 1
6-90455069-C-A c.4101G>T p.E1367D Missense 29/102 - 1
6-90455069-C-G c.4101G>C p.E1367D Missense 29/102 - 1
6-90455073-GT-CC c.4096_4097delinsGG p.T1366G Missense 29/102 - 1
6-90455078-C-A c.4092G>T p.V1364= Synonymous 29/102 - 1
6-90455078-C-G c.4092G>C p.V1364= Synonymous 29/102 - 1
6-90455078-C-T c.4092G>A p.V1364= Synonymous 29/102 - 2
6-90455080-C-T c.4090G>A p.V1364M Missense 29/102 - 4
6-90455081-G-A c.4089C>T p.I1363= Synonymous 29/102 - 1
6-90455081-G-T c.4089C>A p.I1363= Synonymous 29/102 - 1
6-90455084-A-G c.4086T>C p.H1362= Synonymous 29/102 - 20
6-90455086-G-A c.4084C>T p.H1362Y Missense 29/102 - 2
6-90455087-G-A c.4083C>T p.G1361= Synonymous 29/102 - 2
6-90455088-C-T c.4082G>A p.G1361D Missense 29/102 - 1
6-90455093-G-GACT c.4076_4077insAGT p.N1359delinsKV MultiAAMissense 29/102 - 1
6-90455094-T-C c.4076A>G p.N1359S Missense 29/102 - 1
6-90455100-T-C c.4070A>G p.E1357G Missense 29/102 - 1
6-90455105-T-A c.4065A>T p.T1355= Synonymous 29/102 - 1
6-90455105-T-C c.4065A>G p.T1355= Synonymous 29/102 - 1
6-90455105-T-G c.4065A>C p.T1355= Synonymous 29/102 - 1
6-90455106-G-C c.4064C>G p.T1355R Missense 29/102 - 1
6-90455122-A-C c.4048T>G p.S1350A Missense 29/102 - 1
6-90455129-TAC-T c.4040_4041del p.G1347Efs*12 SpliceAcceptorDeletion 29/102 - 1
6-90455222-A-T c.4028T>A p.L1343Q Missense 28/102 - 1
6-90455232-C-T c.4018G>A p.E1340K Missense 28/102 - 3
6-90455237-G-A c.4013C>T p.S1338F Missense 28/102 - 1
6-90455237-G-T c.4013C>A p.S1338Y Missense 28/102 - 1
6-90455244-G-A c.4006C>T p.L1336F Missense 28/102 - 4
6-90455244-G-C c.4006C>G p.L1336V Missense 28/102 - 2
6-90455248-T-A c.4002A>T p.Q1334H Missense 28/102 - 1
6-90455248-T-C c.4002A>G p.Q1334= Synonymous 28/102 - 1
6-90455248-T-G c.4002A>C p.Q1334H Missense 28/102 - 1
6-90455250-G-A c.4000C>T p.Q1334* Nonsense 28/102 - 1
6-90455252-G-A c.3998C>T p.P1333L Missense 28/102 - 1
6-90455262-T-TA c.3987_3988insT p.K1330* Nonsense 28/102 - 1
6-90455273-T-C c.3977A>G p.H1326R Missense 28/102 - 2
6-90455280-C-G c.3970G>C p.E1324Q Missense 28/102 - 3
6-90455283-G-C c.3967C>G p.L1323V Missense 28/102 - 1
6-90455289-C-G c.3961G>C p.E1321Q Missense 28/102 - 2
6-90455293-A-T c.3957T>A p.I1319= Synonymous 28/102 - 1
6-90455300-T-A c.3950A>T p.D1317V Missense 28/102 - 1
6-90455301-C-A c.3949G>T p.D1317Y Missense 28/102 - 2
6-90455301-C-G c.3949G>C p.D1317H Missense 28/102 - 1
6-90455308-C-T c.3942G>A p.E1314= Synonymous 28/102 - 3
6-90455318-CT-TA c.3931_3932delinsTA p.R1311* Nonsense 28/102 - 1
6-90455325-G-A c.3925C>T p.R1309* Nonsense 28/102 - 1
6-90455344-A-C c.3906T>G p.G1302= Synonymous 28/102 - 3
6-90455429-T-C c.3905-84A>G - IntronicSNV - 27/101 3
6-90457064-C-A c.3888G>T p.Q1296H Missense 27/102 - 1
6-90457064-C-G c.3888G>C p.Q1296H Missense 27/102 - 1
6-90457065-T-C c.3887A>G p.Q1296R Missense 27/102 - 1
6-90457071-C-G c.3881G>C p.W1294S Missense 27/102 - 3
6-90457075-C-T c.3877G>A p.D1293N Missense 27/102 - 1
6-90457082-C-A c.3870G>T p.K1290N Missense 27/102 - 1
6-90457082-C-T c.3870G>A p.K1290= Synonymous 27/102 - 1
6-90457087-C-G c.3865G>C p.E1289Q Missense 27/102 - 2
6-90457087-C-T c.3865G>A p.E1289K Missense 27/102 - 3
6-90457088-G-A c.3864C>T p.T1288= Synonymous 27/102 - 1
6-90457088-G-C c.3864C>G p.T1288= Synonymous 27/102 - 1
6-90457088-G-T c.3864C>A p.T1288= Synonymous 27/102 - 1
6-90457089-G-C c.3863C>G p.T1288S Missense 27/102 - 1
6-90457090-T-A c.3862A>T p.T1288S Missense 27/102 - 1
6-90457092-G-T c.3860C>A p.P1287Q Missense 27/102 - 1
6-90457094-C-T c.3858G>A p.E1286= Synonymous 27/102 - 1
6-90457098-G-A c.3854C>T p.A1285V Missense 27/102 - 1
6-90457106-G-C c.3846C>G p.Y1282* Nonsense 27/102 - 1
6-90457112-T-A c.3840A>T p.E1280D Missense 27/102 - 1
6-90457112-T-G c.3840A>C p.E1280D Missense 27/102 - 1
6-90457117-C-T c.3835G>A p.A1279T Missense 27/102 - 1
6-90457123-G-A c.3829C>T p.R1277* Nonsense 27/102 - 2
6-90457132-C-T c.3820G>A p.D1274N Missense 27/102 - 1
6-90457134-C-T c.3818G>A p.R1273H Missense 27/102 - 2
6-90457135-CG-C c.3817del p.R1273Vfs*26 Frameshift 27/102 - 1
6-90457135-G-A c.3817C>T p.R1273C Missense 27/102 - 5
6-90457140-G-T c.3812C>A p.T1271N Missense 27/102 - 2
6-90457144-T-C c.3808A>G p.I1270V Missense 27/102 - 3
6-90457148-G-A c.3804C>T p.G1268= Synonymous 27/102 - 1
6-90457148-G-C c.3804C>G p.G1268= Synonymous 27/102 - 1
6-90457148-G-T c.3804C>A p.G1268= Synonymous 27/102 - 1
6-90457152-T-A c.3800A>T p.Q1267L Missense 27/102 - 1
6-90457157-TC-GT c.3794_3795delinsAC p.G1265D Missense 27/102 - 1
6-90457162-C-T c.3790G>A p.A1264T Missense 27/102 - 1
6-90457168-C-A c.3784G>T p.V1262L Missense 27/102 - 1
6-90457168-C-G c.3784G>C p.V1262L Missense 27/102 - 1
6-90457179-C-A c.3773G>T p.R1258I Missense 27/102 - 1
6-90457181-GCG-TCA c.3769_3771delinsTGA p.R1257* Nonsense 27/102 - 1
6-90457182-C-T c.3770G>A p.R1257H Missense 27/102 - 1
6-90457183-G-A c.3769C>T p.R1257C Missense 27/102 - 1
6-90457185-T-C c.3767A>G p.Y1256C Missense 27/102 - 1
6-90457187-G-A c.3765C>T p.S1255= Synonymous 27/102 - 2
6-90457187-G-C c.3765C>G p.S1255= Synonymous 27/102 - 2
6-90457187-G-T c.3765C>A p.S1255= Synonymous 27/102 - 3
6-90458947-G-T c.3757C>A p.L1253I Missense 26/102 - 1
6-90458950-C-T c.3754G>A p.D1252N Missense 26/102 - 1
6-90458953-G-A c.3751C>T p.L1251= Synonymous 26/102 - 1
6-90458968-A-C c.3736T>G p.L1246V Missense 26/102 - 1
6-90458978-A-C c.3726T>G p.Y1242* Nonsense 26/102 - 1
6-90458978-A-G c.3726T>C p.Y1242= Synonymous 26/102 - 1
6-90458978-A-T c.3726T>A p.Y1242* Nonsense 26/102 - 1
6-90458979-T-C c.3725A>G p.Y1242C Missense 26/102 - 7
6-90458981-G-A c.3723C>T p.S1241= Synonymous 26/102 - 1
6-90458981-G-C c.3723C>G p.S1241= Synonymous 26/102 - 1
6-90458981-G-T c.3723C>A p.S1241= Synonymous 26/102 - 1
6-90458986-G-A c.3718C>T p.P1240S Missense 26/102 - 2
6-90458990-C-T c.3714G>A p.L1238= Synonymous 26/102 - 2
6-90458991-A-G c.3713T>C p.L1238S Missense 26/102 - 1
6-90458994-C-A c.3710G>T p.S1237I Missense 26/102 - 3
6-90458994-C-T c.3710G>A p.S1237N Missense 26/102 - 1
6-90458996-A-T c.3708T>A p.C1236* Nonsense 26/102 - 1
6-90458999-C-T c.3705G>A p.R1235= Synonymous 26/102 - 2
6-90459000-C-T c.3704G>A p.R1235Q Missense 26/102 - 7
6-90458999-C-A c.3705G>T p.R1235= Synonymous 26/102 - 1
6-90458999-C-G c.3705G>C p.R1235= Synonymous 26/102 - 1
6-90459001-G-T c.3703C>A p.R1235= Synonymous 26/102 - 1
6-90459005-G-A c.3699C>T p.H1233= Synonymous 26/102 - 2
6-90459005-G-C c.3699C>G p.H1233Q Missense 26/102 - 1
6-90459005-G-T c.3699C>A p.H1233Q Missense 26/102 - 1
6-90459006-T-A c.3698A>T p.H1233L Missense 26/102 - 1
6-90459008-C-T c.3696G>A p.L1232= Synonymous 26/102 - 1
6-90459010-A-G c.3694T>C p.L1232= Synonymous 26/102 - 1
6-90459011-G-A c.3693C>T p.I1231= Synonymous 26/102 - 1
6-90459011-G-C c.3693C>G p.I1231M Missense 26/102 - 1
6-90459011-G-T c.3693C>A p.I1231= Synonymous 26/102 - 1
6-90459013-T-C c.3691A>G p.I1231V Missense 26/102 - 1
6-90459014-T-C c.3690A>G p.T1230= Synonymous 26/102 - 1
6-90459015-G-A c.3689C>T p.T1230I Missense 26/102 - 1
6-90459020-C-A c.3684G>T p.L1228F Missense 26/102 - 1
6-90459020-C-G c.3684G>C p.L1228F Missense 26/102 - 2
6-90459022-A-T c.3682T>A p.L1228M Missense 26/102 - 1
6-90459024-T-A c.3680A>T p.E1227V Missense 26/102 - 1
6-90459025-C-G c.3679G>C p.E1227Q Missense 26/102 - 1
6-90459025-C-T c.3679G>A p.E1227K Missense 26/102 - 1
6-90459027-GA-AG c.3676_3677delinsCT p.S1226L Missense 26/102 - 1
6-90459052-A-G c.3652T>C p.L1218= Synonymous 26/102 - 1
6-90459055-C-G c.3649G>C p.E1217Q Missense 26/102 - 1
6-90459063-C-T c.3641G>A p.R1214Q Missense 26/102 - 1
6-90459064-G-A c.3640C>T p.R1214W Missense 26/102 - 2
6-90459071-G-A c.3633C>T p.F1211= Synonymous 26/102 - 1
6-90459076-C-A c.3628G>T p.A1210S Missense 26/102 - 1
6-90459082-A-G c.3622T>C p.S1208P Missense 26/102 - 1
6-90459085-G-A c.3619C>T p.L1207F Missense 26/102 - 1
6-90459086-GAC-CAT c.3616_3618delinsATG p.V1206M Missense 26/102 - 1
6-90459111-G-T c.3616-23C>A - IntronicSNV - 25/101 1
6-90459287-G-A c.3590C>T p.P1197L Missense 25/102 - 2
6-90459288-G-A c.3589C>T p.P1197S Missense 25/102 - 2
6-90459294-G-A c.3583C>T p.Q1195* Nonsense 25/102 - 1
6-90459299-G-A c.3578C>T p.A1193V Missense 25/102 - 1
6-90459306-G-A c.3571C>T p.L1191F Missense 25/102 - 1
6-90459314-CG-TA c.3562_3563delinsTA p.R1188* Nonsense 25/102 - 2
6-90459314-CG-TT c.3562_3563delinsAA p.R1188K Missense 25/102 - 1
6-90459313-C-A c.3564G>T p.R1188= Synonymous 25/102 - 1
6-90459313-C-G c.3564G>C p.R1188= Synonymous 25/102 - 1
6-90459313-C-T c.3564G>A p.R1188= Synonymous 25/102 - 1
6-90459315-G-T c.3562C>A p.R1188= Synonymous 25/102 - 1
6-90459321-G-A c.3556C>T p.H1186Y Missense 25/102 - 2
6-90459323-G-A c.3554C>T p.A1185V Missense 25/102 - 1
6-90459333-C-A c.3544G>T p.V1182F Missense 25/102 - 2
6-90459334-T-G c.3543A>C p.E1181D Missense 25/102 - 2
6-90459339-G-C c.3538C>G p.Q1180E Missense 25/102 - 1
6-90459341-GT-G c.3535del p.T1179Hfs*120 Frameshift 25/102 - 1
6-90459363-G-A c.3514C>T p.R1172C Missense 25/102 - 2
6-90459375-A-C c.3502T>G p.L1168V Missense 25/102 - 1
6-90459377-A-T c.3500T>A p.L1167Q Missense 25/102 - 1
6-90459388-C-A c.3489G>T p.A1163= Synonymous 25/102 - 2
6-90459388-C-G c.3489G>C p.A1163= Synonymous 25/102 - 2
6-90459388-C-T c.3489G>A p.A1163= Synonymous 25/102 - 5
6-90459389-G-A c.3488C>T p.A1163V Missense 25/102 - 1
6-90459393-C-CA c.3483_3484insT p.E1162* Nonsense 25/102 - 1
6-90459402-C-A c.3475G>T p.D1159Y Missense 25/102 - 1
6-90459410-G-A c.3467C>T p.A1156V Missense 25/102 - 2
6-90459420-A-T c.3457T>A p.L1153I Missense 25/102 - 2
6-90459425-T-C c.3452A>G p.D1151G Missense 25/102 - 1
6-90459426-C-T c.3451G>A p.D1151N Missense 25/102 - 3
6-90459431-A-T c.3446T>A p.I1149N Missense 25/102 - 1
6-90459439-A-T c.3438T>A p.Y1146* Nonsense 25/102 - 1
6-90459440-T-C c.3437A>G p.Y1146C Missense 25/102 - 2
6-90459443-C-T c.3434G>A p.G1145D Missense 25/102 - 1
6-90459449-C-T c.3428G>A p.R1143K Missense 25/102 - 1
6-90459454-G-A c.3423C>T p.A1141= Synonymous 25/102 - 20
6-90459454-G-C c.3423C>G p.A1141= Synonymous 25/102 - 15
6-90459454-G-T c.3423C>A p.A1141= Synonymous 25/102 - 2
6-90459455-G-A c.3422C>T p.A1141V Missense 25/102 - 2
6-90459455-G-T c.3422C>A p.A1141D Missense 25/102 - 1
6-90459456-C-A c.3421G>T p.A1141S Missense 25/102 - 1
6-90459456-C-T c.3421G>A p.A1141T Missense 25/102 - 1
6-90459459-C-G c.3418G>C p.D1140H Missense 25/102 - 1
6-90459461-A-G c.3416T>C p.I1139T Missense 25/102 - 1
6-90460071-A-G c.3406+2T>C - IntronicSNV - 24/101 1
6-90460075-T-C c.3404A>G p.E1135G Missense 24/102 - 1
6-90460077-C-A c.3402G>T p.K1134N Missense 24/102 - 1
6-90460077-C-G c.3402G>C p.K1134N Missense 24/102 - 1
6-90460092-C-T c.3387G>A p.G1129= Synonymous 24/102 - 1
6-90460100-A-T c.3379T>A p.S1127T Missense 24/102 - 1
6-90460107-C-T c.3372G>A p.T1124= Synonymous 24/102 - 1
6-90460108-G-A c.3371C>T p.T1124M Missense 24/102 - 1
6-90460108-G-T c.3371C>A p.T1124K Missense 24/102 - 1
6-90460113-A-G c.3366T>C p.C1122= Synonymous 24/102 - 1
6-90460121-T-C c.3358A>G p.I1120V Missense 24/102 - 2
6-90460121-T-G c.3358A>C p.I1120L Missense 24/102 - 1
6-90460127-C-CTTGGATGTCTGTATG c.3351_3352insCATACAGACATCCAA p.H1113_Q1117dup InFrameInsertion 24/102 - 1
6-90460127-C-T c.3352G>A p.E1118K Missense 24/102 - 1
6-90460137-C-A c.3342G>T p.T1114= Synonymous 24/102 - 1
6-90460137-C-G c.3342G>C p.T1114= Synonymous 24/102 - 1
6-90460137-C-T c.3342G>A p.T1114= Synonymous 24/102 - 1
6-90460138-G-A c.3341C>T p.T1114M Missense 24/102 - 1
6-90460145-C-T c.3334G>A p.E1112K Missense 24/102 - 1
6-90460157-T-C c.3322A>G p.I1108V Missense 24/102 - 1
6-90460158-AC-TT c.3320_3321delinsAA p.R1107Q Missense 24/102 - 1
6-90460160-G-A c.3319C>T p.R1107C Missense 24/102 - 2
6-90460161-C-A c.3318G>T p.V1106= Synonymous 24/102 - 1
6-90460161-C-G c.3318G>C p.V1106= Synonymous 24/102 - 1
6-90460161-C-T c.3318G>A p.V1106= Synonymous 24/102 - 1
6-90460163-C-T c.3316G>A p.V1106M Missense 24/102 - 1
6-90460166-A-G c.3313T>C p.C1105R Missense 24/102 - 2
6-90460167-G-C c.3312C>G p.H1104Q Missense 24/102 - 2
6-90460167-G-T c.3312C>A p.H1104Q Missense 24/102 - 2
6-90460168-T-C c.3311A>G p.H1104R Missense 24/102 - 1
6-90460168-TG-CT c.3310_3311delinsAG p.H1104S Missense 24/102 - 1
6-90460169-G-C c.3310C>G p.H1104D Missense 24/102 - 1
6-90460169-G-T c.3310C>A p.H1104N Missense 24/102 - 1
6-90460171-T-C c.3308A>G p.N1103S Missense 24/102 - 1
6-90460177-G-A c.3302C>T p.T1101I Missense 24/102 - 1
6-90460181-C-A c.3298G>T p.A1100S Missense 24/102 - 1
6-90460181-C-G c.3298G>C p.A1100P Missense 24/102 - 2
6-90460190-G-A c.3289C>T p.L1097= Synonymous 24/102 - 2
6-90460193-A-C c.3286T>G p.W1096G Missense 24/102 - 1
6-90460196-G-T c.3283C>A p.Q1095K Missense 24/102 - 2
6-90460201-A-C c.3278T>G p.L1093R Missense 24/102 - 1
6-90460206-T-A c.3273A>T p.T1091= Synonymous 24/102 - 1
6-90460206-T-C c.3273A>G p.T1091= Synonymous 24/102 - 1
6-90460206-T-G c.3273A>C p.T1091= Synonymous 24/102 - 1
6-90460206-TG-CA c.3272_3273inv p.T1091M Missense 24/102 - 1
6-90460207-G-T c.3272C>A p.T1091K Missense 24/102 - 1
6-90460216-A-T c.3263T>A p.V1088D Missense 24/102 - 1
6-90460217-C-T c.3262G>A p.V1088I Missense 24/102 - 1
6-90460222-G-A c.3257C>T p.T1086I Missense 24/102 - 1
6-90460226-C-G c.3253G>C p.E1085Q Missense 24/102 - 1
6-90460227-T-A c.3252A>T p.G1084= Synonymous 24/102 - 2
6-90460228-C-T c.3251G>A p.G1084E Missense 24/102 - 1
6-90460236-C-A c.3243G>T p.L1081= Synonymous 24/102 - 1
6-90460236-C-G c.3243G>C p.L1081= Synonymous 24/102 - 1
6-90460236-C-T c.3243G>A p.L1081= Synonymous 24/102 - 1
6-90460238-G-A c.3241C>T p.L1081= Synonymous 24/102 - 1
6-90460246-T-C c.3233A>G p.Y1078C Missense 24/102 - 2
6-90460250-T-C c.3229A>G p.T1077A Missense 24/102 - 3
6-90461048-A-G c.3227+102T>C - IntronicSNV - 23/101 1
6-90461122-C-T c.3227+28G>A - IntronicSNV - 23/101 1
6-90461123-G-A c.3227+27C>T - IntronicSNV - 23/101 6
6-90461139-A-C c.3227+11T>G - IntronicSNV - 23/101 1
6-90461150-C-A c.3227G>T p.G1076V Missense 23/102 - 1
6-90461150-C-G c.3227G>C p.G1076A Missense 23/102 - 1
6-90461151-C-T c.3226G>A p.G1076R Missense 23/102 - 1
6-90461154-C-A c.3223G>T p.A1075S Missense 23/102 - 1
6-90461158-G-A c.3219C>T p.V1073= Synonymous 23/102 - 1
6-90461158-G-C c.3219C>G p.V1073= Synonymous 23/102 - 1
6-90461158-G-T c.3219C>A p.V1073= Synonymous 23/102 - 1
6-90461165-C-G c.3212G>C p.R1071P Missense 23/102 - 1
6-90461165-C-T c.3212G>A p.R1071Q Missense 23/102 - 3
6-90461165-C-CG c.3211dup p.R1071Pfs*20 Frameshift 23/102 - 1
6-90461170-T-C c.3207A>G p.I1069M Missense 23/102 - 3
6-90461171-A-G c.3206T>C p.I1069T Missense 23/102 - 5
6-90461175-C-T c.3202G>A p.D1068N Missense 23/102 - 1
6-90461176-T-C c.3201A>G p.R1067= Synonymous 23/102 - 1
6-90461178-T-G c.3199A>C p.R1067= Synonymous 23/102 - 1
6-90461177-C-G c.3200G>C p.R1067T Missense 23/102 - 4
6-90461179-C-A c.3198G>T p.L1066= Synonymous 23/102 - 1
6-90461182-G-C c.3195C>G p.N1065K Missense 23/102 - 1
6-90461182-G-T c.3195C>A p.N1065K Missense 23/102 - 1
6-90461186-A-G c.3191T>C p.L1064P Missense 23/102 - 1
6-90461188-C-G c.3189G>C p.K1063N Missense 23/102 - 1
6-90461193-C-G c.3184G>C p.V1062L Missense 23/102 - 1
6-90461195-AG-A c.3182del p.S1061Lfs*2 Frameshift 23/102 - 1
6-90461197-A-C c.3180T>G p.S1060= Synonymous 23/102 - 1
6-90461197-A-G c.3180T>C p.S1060= Synonymous 23/102 - 1
6-90461197-A-T c.3180T>A p.S1060= Synonymous 23/102 - 1
6-90461198-G-A c.3179C>T p.S1060F Missense 23/102 - 3
6-90461198-G-T c.3179C>A p.S1060Y Missense 23/102 - 1
6-90461203-C-A c.3174G>T p.L1058= Synonymous 23/102 - 1
6-90461203-C-G c.3174G>C p.L1058= Synonymous 23/102 - 1
6-90461203-C-T c.3174G>A p.L1058= Synonymous 23/102 - 1
6-90461205-G-A c.3172C>T p.L1058= Synonymous 23/102 - 1
6-90461205-G-C c.3172C>G p.L1058V Missense 23/102 - 1
6-90461210-T-C c.3167A>G p.Y1056C Missense 23/102 - 2
6-90461213-G-A c.3164C>T p.T1055M Missense 23/102 - 3
6-90461226-T-C c.3151A>G p.T1051A Missense 23/102 - 1
6-90461229-G-T c.3148C>A p.P1050T Missense 23/102 - 1
6-90461233-C-A c.3144G>T p.K1048N Missense 23/102 - 6
6-90461233-C-G c.3144G>C p.K1048N Missense 23/102 - 5
6-90461241-C-A c.3136G>T p.G1046* Nonsense 23/102 - 1
6-90461244-C-T c.3133G>A p.V1045M Missense 23/102 - 1
6-90461245-C-T c.3132G>A p.A1044= Synonymous 23/102 - 2
6-90461246-G-A c.3131C>T p.A1044V Missense 23/102 - 4
6-90461247-C-T c.3130G>A p.A1044T Missense 23/102 - 1
6-90461258-C-A c.3119G>T p.G1040V Missense 23/102 - 1
6-90461262-C-T c.3115G>A p.E1039K Missense 23/102 - 1
6-90461264-A-G c.3113T>C p.V1038A Missense 23/102 - 1
6-90461267-T-C c.3110A>G p.Q1037R Missense 23/102 - 1
6-90461268-G-A c.3109C>T p.Q1037* Nonsense 23/102 - 1
6-90461274-G-A c.3103C>T p.L1035F Missense 23/102 - 1
6-90461275-CCG-ACA c.3100_3102delinsTGT p.R1034C Missense 23/102 - 1
6-90461276-C-A c.3101G>T p.R1034L Missense 23/102 - 1
6-90461276-CG-TT c.3100_3101delinsAA p.R1034K Missense 23/102 - 1
6-90461276-C-T c.3101G>A p.R1034Q Missense 23/102 - 1
6-90461277-G-A c.3100C>T p.R1034W Missense 23/102 - 2
6-90461278-ACCT-A c.3096_3098del p.G1033del InFrameDeletion 23/102 - 1
6-90461283-C-G c.3094G>C p.G1032R Missense 23/102 - 2
6-90461283-C-T c.3094G>A p.G1032R Missense 23/102 - 1
6-90461284-T-A c.3093A>T p.K1031N Missense 23/102 - 1
6-90461284-T-G c.3093A>C p.K1031N Missense 23/102 - 1
6-90461289-G-A c.3088C>T p.P1030S Missense 23/102 - 1
6-90461289-G-C c.3088C>G p.P1030A Missense 23/102 - 1
6-90461292-C-A c.3085G>T p.E1029* Nonsense 23/102 - 1
6-90461294-G-A c.3083C>T p.P1028L Missense 23/102 - 3
6-90461296-A-G c.3081T>C p.I1027= Synonymous 23/102 - 1
6-90461296-A-T c.3081T>A p.I1027= Synonymous 23/102 - 1
6-90461300-G-A c.3077C>T p.P1026L Missense 23/102 - 1
6-90461425-A-G c.3076-124T>C - IntronicSNV - 22/101 2
6-90463151-A-G c.3075+80T>C - IntronicSNV - 22/101 2
6-90463149-GA-G c.3075+81del - IntronicDeletion - 22/101 3
6-90463231-C-A c.3075G>T p.Q1025H Missense 22/102 - 1
6-90463231-C-T c.3075G>A p.Q1025= Synonymous 22/102 - 1
6-90463244-C-T c.3062G>A p.S1021N Missense 22/102 - 1
6-90463252-A-C c.3054T>G p.N1018K Missense 22/102 - 1
6-90463258-AG-TT c.3047_3048delinsAA p.P1016Q Missense 22/102 - 1
6-90463260-G-A c.3046C>T p.P1016S Missense 22/102 - 2
6-90463260-G-T c.3046C>A p.P1016T Missense 22/102 - 1
6-90463272-G-C c.3034C>G p.Q1012E Missense 22/102 - 1
6-90463272-G-T c.3034C>A p.Q1012K Missense 22/102 - 1
6-90463274-CA-GT c.3031_3032delinsAC p.C1011T Missense 22/102 - 1
6-90463279-G-A c.3027C>T p.L1009= Synonymous 22/102 - 1
6-90463280-A-AG c.3025dup p.L1009Pfs*31 Frameshift 22/102 - 1
6-90463286-T-C c.3020A>G p.Q1007R Missense 22/102 - 1
6-90463287-G-A c.3019C>T p.Q1007* Nonsense 22/102 - 1
6-90463290-C-G c.3016G>C p.V1006L Missense 22/102 - 1
6-90463295-G-A c.3011C>T p.P1004L Missense 22/102 - 1
6-90463301-G-C c.3005C>G p.S1002* Nonsense 22/102 - 1
6-90463301-G-T c.3005C>A p.S1002* Nonsense 22/102 - 1
6-90463302-A-T c.3004T>A p.S1002T Missense 22/102 - 1
6-90463308-T-A c.2998A>T p.R1000W Missense 22/102 - 1
6-90463311-C-A c.2995G>T p.D999Y Missense 22/102 - 1
6-90463316-T-G c.2990A>C p.Q997P Missense 22/102 - 1
6-90463319-G-C c.2987C>G p.T996R Missense 22/102 - 1
6-90463320-T-C c.2986A>G p.T996A Missense 22/102 - 2
6-90463323-A-C c.2983T>G p.L995V Missense 22/102 - 1
6-90463329-C-A c.2977G>T p.G993C Missense 22/102 - 1
6-90463329-C-T c.2977G>A p.G993S Missense 22/102 - 1
6-90463331-A-G c.2975T>C p.L992S Missense 22/102 - 1
6-90463331-A-T c.2975T>A p.L992* Nonsense 22/102 - 1
6-90463334-C-A c.2972G>T p.C991F Missense 22/102 - 1
6-90463340-C-T c.2966G>A p.G989D Missense 22/102 - 1
6-90463801-C-A c.2964+1G>T - IntronicSNV - 21/101 1
6-90463804-C-G c.2962G>C p.E988Q Missense 21/102 - 2
6-90463810-G-A c.2956C>T p.L986F Missense 21/102 - 1
6-90463816-G-T c.2950C>A p.R984S Missense 21/102 - 1
6-90463825-T-C c.2941A>G p.N981D Missense 21/102 - 1
6-90463826-G-A c.2940C>T p.G980= Synonymous 21/102 - 2
6-90463826-G-C c.2940C>G p.G980= Synonymous 21/102 - 1
6-90463826-G-T c.2940C>A p.G980= Synonymous 21/102 - 1
6-90463828-C-T c.2938G>A p.G980S Missense 21/102 - 1
6-90463829-A-G c.2937T>C p.C979= Synonymous 21/102 - 1
6-90463846-C-T c.2920G>A p.A974T Missense 21/102 - 1
6-90463851-C-T c.2915G>A p.R972Q Missense 21/102 - 1
6-90463853-CA-AT c.2912_2913delinsAT p.L971H Missense 21/102 - 1
6-90463856-G-A c.2910C>T p.A970= Synonymous 21/102 - 1
6-90463857-G-A c.2909C>T p.A970V Missense 21/102 - 1
6-90463860-C-A c.2906G>T p.R969L Missense 21/102 - 2
6-90463860-C-T c.2906G>A p.R969Q Missense 21/102 - 1
6-90463861-G-A c.2905C>T p.R969W Missense 21/102 - 1
6-90463862-G-A c.2904C>T p.C968= Synonymous 21/102 - 1
6-90463863-CA-GT c.2902_2903delinsAC p.C968T Missense 21/102 - 1
6-90463872-C-A c.2894G>T p.R965L Missense 21/102 - 1
6-90463872-CG-TT c.2893_2894delinsAA p.R965K Missense 21/102 - 1
6-90463872-C-T c.2894G>A p.R965Q Missense 21/102 - 4
6-90463873-G-A c.2893C>T p.R965W Missense 21/102 - 3
6-90463880-G-A c.2886C>T p.Y962= Synonymous 21/102 - 2
6-90463881-T-C c.2885A>G p.Y962C Missense 21/102 - 1
6-90463883-G-T c.2883C>A p.H961Q Missense 21/102 - 1
6-90463887-G-A c.2879C>T p.P960L Missense 21/102 - 2
6-90463888-G-A c.2878C>T p.P960S Missense 21/102 - 2
6-90463892-A-C c.2874T>G p.H958Q Missense 21/102 - 1
6-90463892-A-T c.2874T>A p.H958Q Missense 21/102 - 1
6-90463895-G-A c.2871C>T p.G957= Synonymous 21/102 - 1
6-90463896-C-T c.2870G>A p.G957D Missense 21/102 - 1
6-90463899-G-C c.2867C>G p.T956S Missense 21/102 - 1
6-90463900-T-A c.2866A>T p.T956S Missense 21/102 - 1
6-90463902-C-A c.2864G>T p.G955V Missense 21/102 - 1
6-90463902-C-G c.2864G>C p.G955A Missense 21/102 - 1
6-90463905-T-A c.2861A>T p.D954V Missense 21/102 - 1
6-90463912-G-T c.2854C>A p.L952M Missense 21/102 - 1
6-90463920-C-G c.2846G>C p.G949A Missense 21/102 - 1
6-90463927-C-G c.2839G>C p.E947Q Missense 21/102 - 1
6-90463932-C-A c.2834G>T p.R945L Missense 21/102 - 1
6-90463933-G-A c.2833C>T p.R945W Missense 21/102 - 1
6-90463934-C-T c.2832G>A p.L944= Synonymous 21/102 - 2
6-90463936-A-C c.2830T>G p.L944V Missense 21/102 - 1
6-90463936-A-G c.2830T>C p.L944= Synonymous 21/102 - 2
6-90463941-G-A c.2825C>T p.T942I Missense 21/102 - 3
6-90463942-T-A c.2824A>T p.T942S Missense 21/102 - 1
6-90463944-T-C c.2822A>G p.Y941C Missense 21/102 - 1
6-90463969-C-T c.2817-20G>A - IntronicSNV - 20/101 1
6-90465993-T-G c.2816+3A>C - IntronicSNV - 20/101 1
6-90466001-G-A c.2811C>T p.I937= Synonymous 20/102 - 3
6-90466005-C-T c.2807G>A p.G936E Missense 20/102 - 1
6-90466006-C-A c.2806G>T p.G936* Nonsense 20/102 - 1
6-90466006-C-G c.2806G>C p.G936R Missense 20/102 - 1
6-90466006-C-T c.2806G>A p.G936R Missense 20/102 - 1
6-90466009-G-T c.2803C>A p.Q935K Missense 20/102 - 1
6-90466010-CAC-GAT c.2800_2802delinsATC p.V934I Missense 20/102 - 1
6-90466014-G-A c.2798C>T p.T933I Missense 20/102 - 1
6-90466019-C-A c.2793G>T p.K931N Missense 20/102 - 2
6-90466019-C-G c.2793G>C p.K931N Missense 20/102 - 1
6-90466019-C-T c.2793G>A p.K931= Synonymous 20/102 - 2
6-90466025-C-T c.2787G>A p.V929= Synonymous 20/102 - 1
6-90466029-CT-AG c.2782_2783inv p.S928L Missense 20/102 - 1
6-90466031-C-T c.2781G>A p.L927= Synonymous 20/102 - 1
6-90466033-A-G c.2779T>C p.L927= Synonymous 20/102 - 1
6-90466036-C-G c.2776G>C p.G926R Missense 20/102 - 1
6-90466039-T-C c.2773A>G p.K925E Missense 20/102 - 1
6-90466040-C-T c.2772G>A p.L924= Synonymous 20/102 - 2
6-90466042-G-C c.2770C>G p.L924V Missense 20/102 - 1
6-90466045-A-G c.2767T>C p.Y923H Missense 20/102 - 1
6-90466048-C-T c.2764G>A p.D922N Missense 20/102 - 2
6-90466055-AAG-TTA c.2755_2757delinsTAA p.L919* Nonsense 20/102 - 1
6-90466057-G-A c.2755C>T p.L919F Missense 20/102 - 1
6-90466058-AAC-CAT c.2752_2754delinsATG p.V918M Missense 20/102 - 1
6-90466060-C-G c.2752G>C p.V918L Missense 20/102 - 1
6-90466060-C-T c.2752G>A p.V918I Missense 20/102 - 1
6-90466066-A-T c.2746T>A p.L916I Missense 20/102 - 1
6-90466069-C-T c.2743G>A p.D915N Missense 20/102 - 1
6-90466072-C-T c.2740G>A p.E914K Missense 20/102 - 1
6-90466087-C-G c.2725G>C p.E909Q Missense 20/102 - 1
6-90466095-AT-A c.2717del p.Y906Lfs*2 Frameshift 20/102 - 1
6-90466096-A-G c.2716T>C p.Y906H Missense 20/102 - 6
6-90466102-C-A c.2710G>T p.E904* Nonsense 20/102 - 1
6-90466121-T-A c.2703-12A>T - IntronicSNV - 19/101 3
6-90466121-T-C c.2703-12A>G - IntronicSNV - 19/101 3
6-90467707-T-C c.2702+267A>G - IntronicSNV - 19/101 1
6-90467708-G-A c.2702+266C>T - IntronicSNV - 19/101 1
6-90467724-A-G c.2702+250T>C - IntronicSNV - 19/101 1
6-90467738-G-A c.2702+236C>T - IntronicSNV - 19/101 1
6-90467758-C-A c.2702+216G>T - IntronicSNV - 19/101 1
6-90467759-T-C c.2702+215A>G - IntronicSNV - 19/101 1
6-90467897-G-A c.2702+77C>T - IntronicSNV - 19/101 1
6-90467901-C-T c.2702+73G>A - IntronicSNV - 19/101 1
6-90467905-A-C c.2702+69T>G - IntronicSNV - 19/101 2
6-90467974-C-T c.2702G>A p.R901K Missense 19/102 - 1
6-90467976-G-C c.2700C>G p.N900K Missense 19/102 - 1
6-90467978-T-G c.2698A>C p.N900H Missense 19/102 - 1
6-90467989-G-C c.2687C>G p.P896R Missense 19/102 - 1
6-90467990-G-T c.2686C>A p.P896T Missense 19/102 - 1
6-90467991-TG-T c.2684del p.P895Hfs*4 Frameshift 19/102 - 1
6-90467996-G-A c.2680C>T p.L894F Missense 19/102 - 1
6-90467997-A-G c.2679T>C p.N893= Synonymous 19/102 - 4
6-90468001-C-A c.2675G>T p.R892I Missense 19/102 - 2
6-90468006-G-C c.2670C>G p.G890= Synonymous 19/102 - 1
6-90468008-C-T c.2668G>A p.G890S Missense 19/102 - 1
6-90468010-A-G c.2666T>C p.V889A Missense 19/102 - 3
6-90468012-A-G c.2664T>C p.D888= Synonymous 19/102 - 2
6-90468013-T-A c.2663A>T p.D888V Missense 19/102 - 4
6-90468016-G-A c.2660C>T p.T887I Missense 19/102 - 2
6-90468030-A-G c.2646T>C p.C882= Synonymous 19/102 - 1
6-90468031-CA-GC c.2644_2645delinsGC p.C882A Missense 19/102 - 1
6-90468033-G-A c.2643C>T p.A881= Synonymous 19/102 - 1
6-90468033-G-C c.2643C>G p.A881= Synonymous 19/102 - 1
6-90468033-G-T c.2643C>A p.A881= Synonymous 19/102 - 1
6-90468043-C-G c.2633G>C p.R878P Missense 19/102 - 1
6-90468043-C-T c.2633G>A p.R878H Missense 19/102 - 1
6-90468044-G-A c.2632C>T p.R878C Missense 19/102 - 1
6-90468045-G-A c.2631C>T p.F877= Synonymous 19/102 - 3
6-90468048-G-C c.2628C>G p.D876E Missense 19/102 - 1
6-90468048-G-T c.2628C>A p.D876E Missense 19/102 - 1
6-90468051-A-C c.2625T>G p.P875= Synonymous 19/102 - 1
6-90468051-A-G c.2625T>C p.P875= Synonymous 19/102 - 1
6-90468051-A-T c.2625T>A p.P875= Synonymous 19/102 - 1
6-90468058-C-T c.2618G>A p.R873Q Missense 19/102 - 5
6-90468059-G-A c.2617C>T p.R873W Missense 19/102 - 2
6-90468063-C-A c.2613G>T p.L871= Synonymous 19/102 - 1
6-90468465-C-A c.2605+70G>T - IntronicSNV - 18/101 3
6-90468496-C-G c.2605+39G>C - IntronicSNV - 18/101 1
6-90468537-G-A c.2603C>T p.T868I Missense 18/102 - 2
6-90468545-T-C c.2595A>G p.R865= Synonymous 18/102 - 2
6-90468546-C-T c.2594G>A p.R865Q Missense 18/102 - 2
6-90468546-TC-T c.2594del p.R865Qfs*19 Frameshift 18/102 - 1
6-90468547-G-A c.2593C>T p.R865* Nonsense 18/102 - 1
6-90468547-G-C c.2593C>G p.R865G Missense 18/102 - 1
6-90468550-C-G c.2590G>C p.D864H Missense 18/102 - 1
6-90468550-C-T c.2590G>A p.D864N Missense 18/102 - 1
6-90468559-C-A c.2581G>T p.V861L Missense 18/102 - 2
6-90468559-C-G c.2581G>C p.V861L Missense 18/102 - 1
6-90468564-G-A c.2576C>T p.S859F Missense 18/102 - 5
6-90468570-G-A c.2570C>T p.S857F Missense 18/102 - 4
6-90468570-G-T c.2570C>A p.S857Y Missense 18/102 - 3
6-90468576-C-A c.2564G>T p.G855V Missense 18/102 - 1
6-90468580-C-G c.2560G>C p.E854Q Missense 18/102 - 1
6-90468580-C-T c.2560G>A p.E854K Missense 18/102 - 1
6-90468583-G-C c.2557C>G p.L853V Missense 18/102 - 1
6-90468584-C-T c.2556G>A p.L852= Synonymous 18/102 - 1
6-90468588-C-G c.2552G>C p.G851A Missense 18/102 - 1
6-90468588-C-T c.2552G>A p.G851D Missense 18/102 - 1
6-90468595-G-C c.2545C>G p.L849V Missense 18/102 - 1
6-90468597-CA-GT c.2542_2543delinsAC p.C848T Missense 18/102 - 1
6-90468598-A-G c.2542T>C p.C848R Missense 18/102 - 1
6-90468599-T-C c.2541A>G p.E847= Synonymous 18/102 - 1
6-90468610-C-A c.2530G>T p.E844* Nonsense 18/102 - 1
6-90468613-G-A c.2527C>T p.P843S Missense 18/102 - 5
6-90468616-C-T c.2524G>A p.A842T Missense 18/102 - 1
6-90468617-AG-CT c.2522_2523inv p.A841E Missense 18/102 - 1
6-90468619-C-A c.2521G>T p.A841S Missense 18/102 - 1
6-90468619-C-T c.2521G>A p.A841T Missense 18/102 - 2
6-90468620-C-T c.2520G>A p.L840= Synonymous 18/102 - 1
6-90468622-A-G c.2518T>C p.L840= Synonymous 18/102 - 1
6-90468626-A-C c.2514T>G p.I838M Missense 18/102 - 1
6-90468627-A-T c.2513T>A p.I838N Missense 18/102 - 3
6-90468632-A-C c.2508T>G p.D836E Missense 18/102 - 3
6-90468632-A-T c.2508T>A p.D836E Missense 18/102 - 1
6-90468634-C-A c.2506G>T p.D836Y Missense 18/102 - 1
6-90468638-C-G c.2502G>C p.L834F Missense 18/102 - 1
6-90468638-C-T c.2502G>A p.L834= Synonymous 18/102 - 1
6-90468640-A-G c.2500T>C p.L834= Synonymous 18/102 - 1
6-90468641-G-T c.2499C>A p.I833= Synonymous 18/102 - 1
6-90468649-C-G c.2491G>C p.E831Q Missense 18/102 - 1
6-90468652-C-A c.2488G>T p.G830* Nonsense 18/102 - 1
6-90468669-G-A c.2471C>T p.A824V Missense 18/102 - 1
6-90468669-G-C c.2471C>G p.A824G Missense 18/102 - 1
6-90468674-TG-CA c.2465_2466inv p.T822M Missense 18/102 - 1
6-90468675-G-A c.2465C>T p.T822I Missense 18/102 - 1
6-90468775-C-A c.2461-96G>T - IntronicSNV - 17/101 4
6-90468775-C-G c.2461-96G>C - IntronicSNV - 17/101 4
6-90470111-G-T c.2460+1253C>A - IntronicSNV - 17/101 1
6-90471272-T-C c.2460+92A>G - IntronicSNV - 17/101 1
6-90471366-C-A c.2458G>T p.E820* Nonsense 17/102 - 1
6-90471368-A-G c.2456T>C p.V819A Missense 17/102 - 1
6-90471376-G-A c.2448C>T p.F816= Synonymous 17/102 - 5
6-90471376-G-T c.2448C>A p.F816L Missense 17/102 - 2
6-90471376-G-C c.2448C>G p.F816L Missense 17/102 - 1
6-90471378-A-G c.2446T>C p.F816L Missense 17/102 - 1
6-90471382-T-A c.2442A>T p.L814F Missense 17/102 - 1
6-90471382-T-G c.2442A>C p.L814F Missense 17/102 - 1
6-90471382-T-C c.2442A>G p.L814= Synonymous 17/102 - 1
6-90471384-A-G c.2440T>C p.L814= Synonymous 17/102 - 1
6-90471392-T-G c.2432A>C p.E811A Missense 17/102 - 1
6-90471393-C-G c.2431G>C p.E811Q Missense 17/102 - 2
6-90471396-T-A c.2428A>T p.T810S Missense 17/102 - 1
6-90471397-C-A c.2427G>T p.M809I Missense 17/102 - 1
6-90471407-T-A c.2417A>T p.Q806L Missense 17/102 - 1
6-90471411-G-C c.2413C>G p.Q805E Missense 17/102 - 3
6-90471412-T-A c.2412A>T p.Q804H Missense 17/102 - 1
6-90471412-T-G c.2412A>C p.Q804H Missense 17/102 - 2
6-90471416-G-A c.2408C>T p.A803V Missense 17/102 - 2
6-90471417-C-A c.2407G>T p.A803S Missense 17/102 - 1
6-90471422-T-C c.2402A>G p.N801S Missense 17/102 - 1
6-90471432-G-A c.2392C>T p.L798F Missense 17/102 - 2
6-90471434-C-T c.2390G>A p.G797D Missense 17/102 - 1
6-90471440-G-A c.2384C>T p.A795V Missense 17/102 - 1
6-90471442-T-C c.2382A>G p.E794= Synonymous 17/102 - 1
6-90471444-C-A c.2380G>T p.E794* Nonsense 17/102 - 1
6-90471445-C-T c.2379G>A p.W793* Nonsense 17/102 - 1
6-90471446-C-T c.2378G>A p.W793* Nonsense 17/102 - 1
6-90471453-C-A c.2371G>T p.E791* Nonsense 17/102 - 1
6-90471454-T-G c.2370A>C p.K790N Missense 17/102 - 1
6-90471459-T-A c.2365A>T p.I789L Missense 17/102 - 2
6-90471462-G-C c.2362C>G p.L788V Missense 17/102 - 2
6-90471466-C-A c.2358G>T p.G786= Synonymous 17/102 - 1
6-90471466-C-G c.2358G>C p.G786= Synonymous 17/102 - 1
6-90471466-C-T c.2358G>A p.G786= Synonymous 17/102 - 1
6-90471516-T-C c.2357-49A>G - IntronicSNV - 16/101 3
6-90472058-T-C c.2336A>G p.D779G Missense 16/102 - 1
6-90472059-C-A c.2335G>T p.D779Y Missense 16/102 - 1
6-90472060-C-G c.2334G>C p.K778N Missense 16/102 - 1
6-90472061-T-A c.2333A>T p.K778M Missense 16/102 - 3
6-90472066-A-C c.2328T>G p.V776= Synonymous 16/102 - 1
6-90472066-A-G c.2328T>C p.V776= Synonymous 16/102 - 1
6-90472066-A-T c.2328T>A p.V776= Synonymous 16/102 - 1
6-90472067-A-C c.2327T>G p.V776G Missense 16/102 - 1
6-90472068-C-T c.2326G>A p.V776I Missense 16/102 - 1
6-90472070-G-T c.2324C>A p.A775D Missense 16/102 - 1
6-90472071-C-G c.2323G>C p.A775P Missense 16/102 - 1
6-90472073-GA-AT c.2320_2321delinsAT p.S774I Missense 16/102 - 1
6-90472075-C-A c.2319G>T p.K773N Missense 16/102 - 1
6-90472075-C-G c.2319G>C p.K773N Missense 16/102 - 1
6-90472078-G-A c.2316C>T p.H772= Synonymous 16/102 - 2
6-90472081-T-A c.2313A>T p.V771= Synonymous 16/102 - 1
6-90472083-C-T c.2311G>A p.V771I Missense 16/102 - 1
6-90472085-T-C c.2309A>G p.H770R Missense 16/102 - 1
6-90472093-T-A c.2301A>T p.L767= Synonymous 16/102 - 1
6-90472093-TAG-AAA c.2299_2301delinsTTT p.L767F Missense 16/102 - 1
6-90472093-T-C c.2301A>G p.L767= Synonymous 16/102 - 3
6-90472093-T-G c.2301A>C p.L767= Synonymous 16/102 - 1
6-90472095-G-A c.2299C>T p.L767= Synonymous 16/102 - 1
6-90472097-CT-TG c.2296_2297delinsCA p.R766Q Missense 16/102 - 2
6-90472105-A-C c.2289T>G p.D763E Missense 16/102 - 1
6-90472105-A-T c.2289T>A p.D763E Missense 16/102 - 1
6-90472108-A-G c.2286T>C p.H762= Synonymous 16/102 - 1
6-90472110-G-A c.2284C>T p.H762Y Missense 16/102 - 1
6-90472116-G-A c.2278C>T p.R760W Missense 16/102 - 1
6-90472117-T-C c.2277A>G p.K759= Synonymous 16/102 - 2
6-90472122-G-A c.2272C>T p.Q758* Nonsense 16/102 - 1
6-90472123-T-A c.2271A>T p.R757S Missense 16/102 - 1
6-90472123-TCT-ACA c.2269_2271delinsTGT p.R757C Missense 16/102 - 1
6-90472123-T-G c.2271A>C p.R757S Missense 16/102 - 1
6-90472130-CA-GC c.2263_2264delinsGC p.C755A Missense 16/102 - 1
6-90472130-CA-GT c.2263_2264delinsAC p.C755T Missense 16/102 - 2
6-90472134-T-G c.2260A>C p.T754P Missense 16/102 - 1
6-90472136-T-A c.2258A>T p.Q753L Missense 16/102 - 1
6-90472139-A-G c.2255T>C p.I752T Missense 16/102 - 1
6-90472144-C-A c.2250G>T p.G750= Synonymous 16/102 - 1
6-90472144-C-G c.2250G>C p.G750= Synonymous 16/102 - 1
6-90472144-C-T c.2250G>A p.G750= Synonymous 16/102 - 2
6-90472149-A-T c.2245T>A p.L749M Missense 16/102 - 1
6-90472154-G-T c.2240C>A p.T747K Missense 16/102 - 2
6-90472155-T-A c.2239A>T p.T747S Missense 16/102 - 1
6-90472155-T-C c.2239A>G p.T747A Missense 16/102 - 1
6-90472156-A-T c.2238T>A p.F746L Missense 16/102 - 2
6-90472163-T-A c.2231A>T p.Q744L Missense 16/102 - 1
6-90472163-T-C c.2231A>G p.Q744R Missense 16/102 - 1
6-90472172-G-A c.2222C>T p.S741F Missense 16/102 - 4
6-90472177-TG-CA c.2216_2217inv p.T739M Missense 16/102 - 1
6-90472179-T-A c.2215A>T p.T739S Missense 16/102 - 1
6-90472179-T-C c.2215A>G p.T739A Missense 16/102 - 1
6-90472180-C-A c.2214G>T p.Q738H Missense 16/102 - 1
6-90472180-C-G c.2214G>C p.Q738H Missense 16/102 - 1
6-90472182-G-A c.2212C>T p.Q738* Nonsense 16/102 - 1
6-90472191-G-A c.2203C>T p.L735F Missense 16/102 - 1
6-90472191-G-C c.2203C>G p.L735V Missense 16/102 - 1
6-90472195-C-G c.2199G>C p.E733D Missense 16/102 - 1
6-90472197-C-G c.2197G>C p.E733Q Missense 16/102 - 2
6-90472203-C-T c.2191G>A p.A731T Missense 16/102 - 3
6-90472206-C-A c.2188G>T p.E730* Nonsense 16/102 - 1
6-90472208-C-A c.2186G>T p.R729L Missense 16/102 - 1
6-90472207-C-A c.2187G>T p.R729= Synonymous 16/102 - 2
6-90472207-C-G c.2187G>C p.R729= Synonymous 16/102 - 2
6-90472207-C-T c.2187G>A p.R729= Synonymous 16/102 - 2
6-90472209-G-T c.2185C>A p.R729= Synonymous 16/102 - 2
6-90472215-G-A c.2179C>T p.P727S Missense 16/102 - 3
6-90472222-A-C c.2172T>G p.I724M Missense 16/102 - 1
6-90472236-C-T c.2158G>A p.D720N Missense 16/102 - 1
6-90472237-C-A c.2157G>T p.V719= Synonymous 16/102 - 1
6-90472237-CAC-GAT c.2155_2157delinsATC p.V719I Missense 16/102 - 1
6-90472238-A-G c.2156T>C p.V719A Missense 16/102 - 1
6-90472240-C-A c.2154G>T p.P718= Synonymous 16/102 - 1
6-90472240-C-G c.2154G>C p.P718= Synonymous 16/102 - 1
6-90472240-C-T c.2154G>A p.P718= Synonymous 16/102 - 1
6-90472241-G-A c.2153C>T p.P718L Missense 16/102 - 1
6-90472242-G-A c.2152C>T p.P718S Missense 16/102 - 1
6-90472244-T-G c.2150A>C p.K717T Missense 16/102 - 3
6-90472245-T-C c.2149A>G p.K717E Missense 16/102 - 1
6-90472247-T-C c.2147A>G p.Y716C Missense 16/102 - 1
6-90472410-A-G c.2145-161T>C - IntronicSNV - 15/101 2
6-90481256-A-G c.2144+24T>C - IntronicSNV - 15/101 1
6-90481280-C-G c.2144G>C p.G715A Missense 15/102 - 1
6-90481280-C-T c.2144G>A p.G715D Missense 15/102 - 1
6-90481288-C-T c.2136G>A p.L712= Synonymous 15/102 - 1
6-90481290-A-G c.2134T>C p.L712= Synonymous 15/102 - 1
6-90481294-T-C c.2130A>G p.A710= Synonymous 15/102 - 1
6-90481296-C-T c.2128G>A p.A710T Missense 15/102 - 1
6-90481297-AG-CT c.2126_2127inv p.T709K Missense 15/102 - 1
6-90481298-G-A c.2126C>T p.T709I Missense 15/102 - 2
6-90481300-A-G c.2124T>C p.D708= Synonymous 15/102 - 2
6-90481301-T-A c.2123A>T p.D708V Missense 15/102 - 1
6-90481302-C-T c.2122G>A p.D708N Missense 15/102 - 1
6-90481306-T-A c.2118A>T p.Q706H Missense 15/102 - 1
6-90481306-T-G c.2118A>C p.Q706H Missense 15/102 - 1
6-90481311-G-A c.2113C>T p.Q705* Nonsense 15/102 - 1
6-90481311-G-C c.2113C>G p.Q705E Missense 15/102 - 1
6-90481312-GATT-G c.2110_2112del p.N704del InFrameDeletion 15/102 - 1
6-90481314-T-C c.2110A>G p.N704D Missense 15/102 - 1
6-90481311-GATTCAT-G c.2107_2112del p.M703_N704del InFrameDeletion 15/102 - 1
6-90481315-C-A c.2109G>T p.M703I Missense 15/102 - 1
6-90481316-ATAT-A c.2105_2107del p.N702del InFrameDeletion 15/102 - 1
6-90481319-T-C c.2105A>G p.N702S Missense 15/102 - 1
6-90481320-T-C c.2104A>G p.N702D Missense 15/102 - 1
6-90481321-G-C c.2103C>G p.V701= Synonymous 15/102 - 1
6-90481327-C-T c.2097G>A p.R699= Synonymous 15/102 - 1
6-90481328-CT-TG c.2095_2096delinsCA p.R699Q Missense 15/102 - 1
6-90481332-A-C c.2092T>G p.L698V Missense 15/102 - 1
6-90481334-C-T c.2090G>A p.R697H Missense 15/102 - 1
6-90481335-G-A c.2089C>T p.R697C Missense 15/102 - 1
6-90481337-T-G c.2087A>C p.H696P Missense 15/102 - 2
6-90481453-A-G c.2084-113T>C - IntronicSNV - 14/101 2
6-90481520-T-G c.2084-180A>C - IntronicSNV - 14/101 3
6-90482250-T-A c.2083+42A>T - IntronicSNV - 14/101 2
6-90482274-A-G c.2083+18T>C - IntronicSNV - 14/101 1
6-90482299-G-A c.2076C>T p.H692= Synonymous 14/102 - 2
6-90482301-G-C c.2074C>G p.H692D Missense 14/102 - 1
6-90482302-A-G c.2073T>C p.A691= Synonymous 14/102 - 1
6-90482304-C-A c.2071G>T p.A691S Missense 14/102 - 1
6-90482305-CA-C c.2069del p.L690Wfs*9 Frameshift 14/102 - 1
6-90482309-T-C c.2066A>G p.Y689C Missense 14/102 - 1
6-90482318-G-A c.2057C>T p.T686I Missense 14/102 - 1
6-90482319-T-C c.2056A>G p.T686A Missense 14/102 - 1
6-90482319-T-G c.2056A>C p.T686P Missense 14/102 - 2
6-90482321-G-C c.2054C>G p.S685C Missense 14/102 - 4
6-90482323-G-A c.2052C>T p.T684= Synonymous 14/102 - 4
6-90482325-T-G c.2050A>C p.T684P Missense 14/102 - 2
6-90482328-T-C c.2047A>G p.K683E Missense 14/102 - 1
6-90482329-G-A c.2046C>T p.G682= Synonymous 14/102 - 1
6-90482329-G-C c.2046C>G p.G682= Synonymous 14/102 - 1
6-90482329-G-T c.2046C>A p.G682= Synonymous 14/102 - 1
6-90482330-C-T c.2045G>A p.G682D Missense 14/102 - 2
6-90482331-C-T c.2044G>A p.G682S Missense 14/102 - 1
6-90482337-C-A c.2038G>T p.G680W Missense 14/102 - 2
6-90482339-G-A c.2036C>T p.T679I Missense 14/102 - 2
6-90482340-T-C c.2035A>G p.T679A Missense 14/102 - 1
6-90482346-C-A c.2029G>T p.G677* Nonsense 14/102 - 1
6-90482360-G-T c.2015C>A p.P672H Missense 14/102 - 3
6-90482361-G-A c.2014C>T p.P672S Missense 14/102 - 1
6-90482366-C-G c.2009G>C p.G670A Missense 14/102 - 1
6-90482370-T-C c.2005A>G p.K669E Missense 14/102 - 1
6-90482372-C-T c.2003G>A p.S668N Missense 14/102 - 1
6-90482378-C-A c.1997G>T p.C666F Missense 14/102 - 1
6-90482380-C-T c.1995G>A p.V665= Synonymous 14/102 - 1
6-90482382-C-G c.1993G>C p.V665L Missense 14/102 - 1
6-90482382-C-T c.1993G>A p.V665M Missense 14/102 - 1
6-90482383-T-C c.1992A>G p.A664= Synonymous 14/102 - 1
6-90482386-A-G c.1989T>C p.L663= Synonymous 14/102 - 1
6-90482388-G-C c.1987C>G p.L663V Missense 14/102 - 1
6-90482390-T-C c.1985A>G p.Q662R Missense 14/102 - 1
6-90482391-G-A c.1984C>T p.Q662* Nonsense 14/102 - 4
6-90482391-G-T c.1984C>A p.Q662K Missense 14/102 - 1
6-90482394-C-T c.1981G>A p.E661K Missense 14/102 - 1
6-90482395-G-A c.1980C>T p.I660= Synonymous 14/102 - 2
6-90482395-G-T c.1980C>A p.I660= Synonymous 14/102 - 1
6-90482396-A-G c.1979T>C p.I660T Missense 14/102 - 1
6-90482397-T-A c.1978A>T p.I660F Missense 14/102 - 4
6-90482397-T-C c.1978A>G p.I660V Missense 14/102 - 26
6-90482398-G-A c.1977C>T p.L659= Synonymous 14/102 - 1
6-90482398-G-C c.1977C>G p.L659= Synonymous 14/102 - 1
6-90482398-G-T c.1977C>A p.L659= Synonymous 14/102 - 2
6-90482401-AAC-CAT c.1972_1974delinsATG p.V658M Missense 14/102 - 1
6-90482403-C-T c.1972G>A p.V658I Missense 14/102 - 1
6-90482407-G-A c.1968C>T p.S656= Synonymous 14/102 - 1
6-90482407-G-C c.1968C>G p.S656= Synonymous 14/102 - 1
6-90482407-G-T c.1968C>A p.S656= Synonymous 14/102 - 1
6-90482408-G-A c.1967C>T p.S656F Missense 14/102 - 1
6-90482411-G-A c.1964C>T p.P655L Missense 14/102 - 1
6-90482411-G-C c.1964C>G p.P655R Missense 14/102 - 2
6-90482414-C-T c.1961G>A p.R654Q Missense 14/102 - 1
6-90482415-G-A c.1960C>T p.R654W Missense 14/102 - 3
6-90482417-G-A c.1958C>T p.T653I Missense 14/102 - 1
6-90482424-C-T c.1951G>A p.A651T Missense 14/102 - 1
6-90482425-G-A c.1950C>T p.F650= Synonymous 14/102 - 4
6-90482427-A-T c.1948T>A p.F650I Missense 14/102 - 1
6-90482428-A-C c.1947T>G p.T649= Synonymous 14/102 - 1
6-90482428-A-G c.1947T>C p.T649= Synonymous 14/102 - 2
6-90482428-A-T c.1947T>A p.T649= Synonymous 14/102 - 1
6-90482431-G-A c.1944C>T p.F648= Synonymous 14/102 - 1
6-90482436-T-C c.1939A>G p.K647E Missense 14/102 - 1
6-90482439-C-A c.1936G>T p.E646* Nonsense 14/102 - 1
6-90482439-C-G c.1936G>C p.E646Q Missense 14/102 - 1
6-90484342-C-A c.1932G>T p.Q644H Missense 13/102 - 1
6-90484342-C-G c.1932G>C p.Q644H Missense 13/102 - 1
6-90484345-T-A c.1929A>T p.L643= Synonymous 13/102 - 1
6-90484345-T-C c.1929A>G p.L643= Synonymous 13/102 - 1
6-90484345-T-G c.1929A>C p.L643= Synonymous 13/102 - 1
6-90484347-G-A c.1927C>T p.L643= Synonymous 13/102 - 1
6-90484353-C-G c.1921G>C p.V641L Missense 13/102 - 1
6-90484359-C-T c.1915G>A p.E639K Missense 13/102 - 1
6-90484361-C-A c.1913G>T p.S638I Missense 13/102 - 1
6-90484370-C-T c.1904G>A p.R635Q Missense 13/102 - 3
6-90484371-G-A c.1903C>T p.R635W Missense 13/102 - 1
6-90484372-T-A c.1902A>T p.L634= Synonymous 13/102 - 1
6-90484372-T-C c.1902A>G p.L634= Synonymous 13/102 - 1
6-90484372-T-G c.1902A>C p.L634= Synonymous 13/102 - 1
6-90484374-G-A c.1900C>T p.L634= Synonymous 13/102 - 1
6-90484377-G-A c.1897C>T p.L633F Missense 13/102 - 2
6-90484377-G-T c.1897C>A p.L633I Missense 13/102 - 2
6-90484378-CCG-ACA c.1894_1896delinsTGT p.R632C Missense 13/102 - 1
6-90484380-G-A c.1894C>T p.R632W Missense 13/102 - 10
6-90484383-C-T c.1891G>A p.V631M Missense 13/102 - 1
6-90484385-C-A c.1889G>T p.R630L Missense 13/102 - 1
6-90484386-G-A c.1888C>T p.R630* Nonsense 13/102 - 1
6-90484389-C-A c.1885G>T p.G629C Missense 13/102 - 1
6-90484396-C-CA c.1877dup p.L626Ffs*14 Frameshift 13/102 - 1
6-90484399-A-C c.1875T>G p.D625E Missense 13/102 - 1
6-90484407-C-CA c.1866dup p.E623* Nonsense 13/102 - 1
6-90484408-A-C c.1866T>G p.N622K Missense 13/102 - 1
6-90484408-A-G c.1866T>C p.N622= Synonymous 13/102 - 1
6-90484414-C-A c.1860G>T p.V620= Synonymous 13/102 - 2
6-90484414-C-G c.1860G>C p.V620= Synonymous 13/102 - 1
6-90484414-C-T c.1860G>A p.V620= Synonymous 13/102 - 1
6-90484418-A-G c.1856T>C p.I619T Missense 13/102 - 2
6-90484419-T-C c.1855A>G p.I619V Missense 13/102 - 3
6-90484422-C-T c.1852G>A p.E618K Missense 13/102 - 2
6-90484424-G-A c.1850C>T p.P617L Missense 13/102 - 2
6-90484424-G-C c.1850C>G p.P617R Missense 13/102 - 1
6-90484423-TG-T c.1850del p.P617Qfs*4 Frameshift 13/102 - 1
6-90484439-CA-GT c.1834_1835delinsAC p.C612T Missense 13/102 - 1
6-90484441-A-T c.1833T>A p.F611L Missense 13/102 - 2
6-90484444-GA-G c.1829del p.F610Sfs*11 Frameshift 13/102 - 1
6-90484448-T-C c.1826A>G p.E609G Missense 13/102 - 1
6-90484449-C-A c.1825G>T p.E609* Nonsense 13/102 - 1
6-90484449-C-T c.1825G>A p.E609K Missense 13/102 - 1
6-90484559-T-C c.1822-107A>G - IntronicSNV - 12/101 1
6-90486037-G-A c.1821+282C>T - IntronicSNV - 12/101 1
6-90486323-TT-GC c.1816_1817delinsGC p.K606A Missense 12/102 - 1
6-90486325-T-C c.1815A>G p.R605= Synonymous 12/102 - 9
6-90486327-T-G c.1813A>C p.R605= Synonymous 12/102 - 1
6-90486328-A-C c.1812T>G p.S604= Synonymous 12/102 - 2
6-90486328-A-G c.1812T>C p.S604= Synonymous 12/102 - 2
6-90486328-A-T c.1812T>A p.S604= Synonymous 12/102 - 2
6-90486329-G-A c.1811C>T p.S604F Missense 12/102 - 1
6-90486335-T-A c.1805A>T p.N602I Missense 12/102 - 1
6-90486337-C-A c.1803G>T p.L601F Missense 12/102 - 2
6-90486337-C-G c.1803G>C p.L601F Missense 12/102 - 1
6-90486337-C-T c.1803G>A p.L601= Synonymous 12/102 - 1
6-90486339-A-G c.1801T>C p.L601= Synonymous 12/102 - 1
6-90486344-C-G c.1796G>C p.S599T Missense 12/102 - 1
6-90486346-T-C c.1794A>G p.G598= Synonymous 12/102 - 1
6-90486348-C-G c.1792G>C p.G598R Missense 12/102 - 2
6-90486348-C-T c.1792G>A p.G598R Missense 12/102 - 2
6-90486351-T-G c.1789A>C p.I597L Missense 12/102 - 1
6-90486357-C-T c.1783G>A p.E595K Missense 12/102 - 1
6-90486358-T-A c.1782A>T p.A594= Synonymous 12/102 - 1
6-90486358-T-C c.1782A>G p.A594= Synonymous 12/102 - 1
6-90486358-T-G c.1782A>C p.A594= Synonymous 12/102 - 1
6-90486360-C-T c.1780G>A p.A594T Missense 12/102 - 1
6-90486362-A-G c.1778T>C p.M593T Missense 12/102 - 1
6-90486366-T-C c.1774A>G p.K592E Missense 12/102 - 2
6-90486369-GT-G c.1770del p.K590Nfs*2 Frameshift 12/102 - 1
6-90486374-C-T c.1766G>A p.S589N Missense 12/102 - 1
6-90486377-G-C c.1763C>G p.T588R Missense 12/102 - 1
6-90486379-A-G c.1761T>C p.H587= Synonymous 12/102 - 1
6-90486382-C-T c.1758G>A p.E586= Synonymous 12/102 - 1
6-90486384-C-T c.1756G>A p.E586K Missense 12/102 - 1
6-90486386-AG-A c.1754del p.S585Lfs*7 Frameshift 12/102 - 1
6-90486386-G-A c.1754C>T p.S585F Missense 12/102 - 1
6-90486390-G-C c.1750C>G p.L584V Missense 12/102 - 1
6-90486391-C-T c.1749G>A p.M583I Missense 12/102 - 1
6-90486393-T-A c.1747A>T p.M583L Missense 12/102 - 2
6-90486393-T-G c.1747A>C p.M583L Missense 12/102 - 1
6-90486396-C-T c.1744G>A p.A582T Missense 12/102 - 1
6-90486400-G-A c.1740C>T p.F580= Synonymous 12/102 - 1
6-90486406-G-C c.1734C>G p.D578E Missense 12/102 - 1
6-90486406-G-T c.1734C>A p.D578E Missense 12/102 - 1
6-90486409-T-A c.1731A>T p.L577= Synonymous 12/102 - 1
6-90486409-TAG-AAA c.1729_1731delinsTTT p.L577F Missense 12/102 - 1
6-90486409-T-C c.1731A>G p.L577= Synonymous 12/102 - 1
6-90486409-T-G c.1731A>C p.L577= Synonymous 12/102 - 2
6-90486411-G-A c.1729C>T p.L577= Synonymous 12/102 - 1
6-90486413-G-A c.1727C>T p.A576V Missense 12/102 - 2
6-90488646-TAAATAAAA-T c.1725+1277_1725+1284del - IntronicDeletion - 11/101 1
6-90489773-G-A c.1725+158C>T - IntronicSNV - 11/101 1
6-90489787-C-CA c.1725+143dup - IntronicInsertion - 11/101 1
6-90489897-C-T c.1725+34G>A - IntronicSNV - 11/101 1
6-90489930-C-T c.1725+1G>A - IntronicSNV - 11/101 5
6-90489934-T-A c.1722A>T p.Q574H Missense 11/102 - 1
6-90489941-A-C c.1715T>G p.I572S Missense 11/102 - 1
6-90489942-T-C c.1714A>G p.I572V Missense 11/102 - 1
6-90489944-T-A c.1712A>T p.N571I Missense 11/102 - 1
6-90489945-T-G c.1711A>C p.N571H Missense 11/102 - 1
6-90489947-A-C c.1709T>G p.L570* Nonsense 11/102 - 1
6-90489947-A-T c.1709T>A p.L570* Nonsense 11/102 - 1
6-90489950-G-A c.1706C>T p.S569L Missense 11/102 - 1
6-90489950-GA-AT c.1705_1706delinsAT p.S569I Missense 11/102 - 1
6-90489952-T-A c.1704A>T p.A568= Synonymous 11/102 - 2
6-90489952-T-C c.1704A>G p.A568= Synonymous 11/102 - 2
6-90489952-T-G c.1704A>C p.A568= Synonymous 11/102 - 2
6-90489954-C-T c.1702G>A p.A568T Missense 11/102 - 1
6-90489958-T-A c.1698A>T p.L566F Missense 11/102 - 1
6-90489961-A-G c.1695T>C p.S565= Synonymous 11/102 - 2
6-90489962-G-T c.1694C>A p.S565Y Missense 11/102 - 1
6-90489965-G-A c.1691C>T p.S564L Missense 11/102 - 1
6-90489965-G-T c.1691C>A p.S564* Nonsense 11/102 - 1
6-90489965-G-GA c.1690dup p.S564Ffs*23 Frameshift 11/102 - 1
6-90489972-C-T c.1684G>A p.D562N Missense 11/102 - 1
6-90489981-G-A c.1675C>T p.H559Y Missense 11/102 - 2
6-90489989-CT-TG c.1666_1667delinsCA p.R556Q Missense 11/102 - 1
6-90489992-T-C c.1664A>G p.N555S Missense 11/102 - 1
6-90489995-CA-GT c.1660_1661delinsAC p.C554T Missense 11/102 - 1
6-90489997-C-A c.1659G>T p.W553C Missense 11/102 - 1
6-90489997-C-G c.1659G>C p.W553C Missense 11/102 - 1
6-90489997-C-T c.1659G>A p.W553* Nonsense 11/102 - 1
6-90490010-T-A c.1646A>T p.D549V Missense 11/102 - 2
6-90490011-C-A c.1645G>T p.D549Y Missense 11/102 - 1
6-90490011-C-T c.1645G>A p.D549N Missense 11/102 - 1
6-90491010-G-A c.1643+108C>T - IntronicSNV - 10/101 1
6-90491010-G-C c.1643+108C>G - IntronicSNV - 10/101 1
6-90491071-CA-C c.1643+46del - IntronicDeletion - 10/101 1
6-90491116-A-G c.1643+2T>C - IntronicSNV - 10/101 1
6-90491119-T-A c.1642A>T p.R548W Missense 10/102 - 1
6-90491120-T-A c.1641A>T p.L547= Synonymous 10/102 - 2
6-90491120-T-C c.1641A>G p.L547= Synonymous 10/102 - 2
6-90491120-T-G c.1641A>C p.L547= Synonymous 10/102 - 2
6-90491122-G-A c.1639C>T p.L547= Synonymous 10/102 - 2
6-90491124-G-A c.1637C>T p.S546F Missense 10/102 - 1
6-90491131-C-A c.1630G>T p.E544* Nonsense 10/102 - 1
6-90491133-C-G c.1628G>C p.R543T Missense 10/102 - 1
6-90491133-C-T c.1628G>A p.R543K Missense 10/102 - 1
6-90491136-C-T c.1625G>A p.G542E Missense 10/102 - 1
6-90491137-C-T c.1624G>A p.G542R Missense 10/102 - 1
6-90491138-C-T c.1623G>A p.E541= Synonymous 10/102 - 1
6-90491139-T-A c.1622A>T p.E541V Missense 10/102 - 1
6-90491143-G-A c.1618C>T p.L540F Missense 10/102 - 2
6-90491144-G-A c.1617C>T p.T539= Synonymous 10/102 - 1
6-90491145-G-A c.1616C>T p.T539I Missense 10/102 - 1
6-90491145-GT-CA c.1615_1616delinsTG p.T539C Missense 10/102 - 2
6-90491146-T-C c.1615A>G p.T539A Missense 10/102 - 1
6-90491151-C-T c.1610G>A p.R537K Missense 10/102 - 1
6-90491151-CT-TG c.1609_1610delinsCA p.R537Q Missense 10/102 - 1
6-90491156-G-A c.1605C>T p.N535= Synonymous 10/102 - 1
6-90491157-T-C c.1604A>G p.N535S Missense 10/102 - 1
6-90491158-T-C c.1603A>G p.N535D Missense 10/102 - 1
6-90491161-C-T c.1600G>A p.E534K Missense 10/102 - 1
6-90491162-T-C c.1599A>G p.R533= Synonymous 10/102 - 3
6-90491164-T-C c.1597A>G p.R533G Missense 10/102 - 1
6-90491165-T-C c.1596A>G p.R532= Synonymous 10/102 - 1
6-90491165-TCT-ATG c.1594_1596delinsCAT p.R532H Missense 10/102 - 1
6-90491165-TCT-CCA c.1594_1596delinsTGG p.R532W Missense 10/102 - 1
6-90491167-T-G c.1594A>C p.R532= Synonymous 10/102 - 1
6-90491169-G-A c.1592C>T p.A531V Missense 10/102 - 3
6-90491171-T-A c.1590A>T p.E530D Missense 10/102 - 2
6-90491171-T-C c.1590A>G p.E530= Synonymous 10/102 - 1
6-90491171-T-G c.1590A>C p.E530D Missense 10/102 - 2
6-90491173-C-G c.1588G>C p.E530Q Missense 10/102 - 1
6-90491173-C-T c.1588G>A p.E530K Missense 10/102 - 2
6-90491175-G-A c.1586C>T p.S529L Missense 10/102 - 2
6-90491182-C-G c.1579G>C p.E527Q Missense 10/102 - 1
6-90491182-C-T c.1579G>A p.E527K Missense 10/102 - 3
6-90491184-T-C c.1577A>G p.E526G Missense 10/102 - 1
6-90491185-C-T c.1576G>A p.E526K Missense 10/102 - 1
6-90491187-G-T c.1574C>A p.P525H Missense 10/102 - 1
6-90491188-G-A c.1573C>T p.P525S Missense 10/102 - 1
6-90491189-T-C c.1572A>G p.A524= Synonymous 10/102 - 2
6-90491191-C-T c.1570G>A p.A524T Missense 10/102 - 1
6-90491192-C-T c.1569G>A p.Q523= Synonymous 10/102 - 1
6-90491199-C-A c.1562G>T p.C521F Missense 10/102 - 1
6-90491199-C-T c.1562G>A p.C521Y Missense 10/102 - 1
6-90491200-A-G c.1561T>C p.C521R Missense 10/102 - 1
6-90491206-C-T c.1555G>A p.V519I Missense 10/102 - 1
6-90491208-G-C c.1553C>G p.S518C Missense 10/102 - 1
6-90491213-A-G c.1548T>C p.D516= Synonymous 10/102 - 1
6-90491215-C-T c.1546G>A p.D516N Missense 10/102 - 1
6-90491216-A-G c.1545T>C p.S515= Synonymous 10/102 - 1
6-90491217-C-T c.1544G>A p.S515N Missense 10/102 - 1
6-90491218-T-C c.1543A>G p.S515G Missense 10/102 - 2
6-90491222-A-G c.1539T>C p.S513= Synonymous 10/102 - 1
6-90491227-G-T c.1534C>A p.H512N Missense 10/102 - 1
6-90491234-C-A c.1527G>T p.E509D Missense 10/102 - 2
6-90491234-C-G c.1527G>C p.E509D Missense 10/102 - 1
6-90491236-C-G c.1525G>C p.E509Q Missense 10/102 - 1
6-90491248-G-A c.1513C>T p.Q505* Nonsense 10/102 - 1
6-90491255-A-T c.1506T>A p.I502= Synonymous 10/102 - 1
6-90491258-G-A c.1503C>T p.D501= Synonymous 10/102 - 1
6-90491268-T-C c.1493A>G p.H498R Missense 10/102 - 1
6-90491272-C-T c.1489G>A p.D497N Missense 10/102 - 1
6-90491280-G-A c.1481C>T p.A494V Missense 10/102 - 1
6-90491285-T-C c.1476A>G p.L492= Synonymous 10/102 - 1
6-90491289-C-T c.1472G>A p.S491N Missense 10/102 - 1
6-90491289-CT-AA c.1471_1472delinsTT p.S491F Missense 10/102 - 1
6-90491292-G-C c.1469C>G p.P490R Missense 10/102 - 1
6-90491295-T-C c.1466A>G p.Y489C Missense 10/102 - 1
6-90491296-A-G c.1465T>C p.Y489H Missense 10/102 - 1
6-90491298-C-T c.1463G>A p.R488K Missense 10/102 - 1
6-90491299-T-C c.1462A>G p.R488G Missense 10/102 - 1
6-90491300-G-A c.1461C>T p.S487= Synonymous 10/102 - 1
6-90491320-G-C c.1450-9C>G - IntronicSNV - 9/101 1
6-90493197-G-A c.1449+1534C>T - IntronicSNV - 9/101 1
6-90493197-G-C c.1449+1534C>G - IntronicSNV - 9/101 1
6-90494471-GT-G c.1449+259del - IntronicDeletion - 9/101 1
6-90494702-A-G c.1449+29T>C - IntronicSNV - 9/101 3
6-90494730-C-A c.1449+1G>T - IntronicSNV - 9/101 1
6-90494739-G-A c.1441C>T p.L481= Synonymous 9/102 - 1
6-90494742-C-A c.1438G>T p.E480* Nonsense 9/102 - 2
6-90494746-C-T c.1434G>A p.K478= Synonymous 9/102 - 1
6-90494752-C-T c.1428G>A p.L476= Synonymous 9/102 - 1
6-90494753-A-G c.1427T>C p.L476P Missense 9/102 - 1
6-90494755-G-C c.1425C>G p.N475K Missense 9/102 - 1
6-90494757-T-A c.1423A>T p.N475Y Missense 9/102 - 1
6-90494760-C-T c.1420G>A p.D474N Missense 9/102 - 1
6-90494763-G-C c.1417C>G p.L473V Missense 9/102 - 1
6-90494764-G-T c.1416C>A p.H472Q Missense 9/102 - 1
6-90494769-T-C c.1411A>G p.I471V Missense 9/102 - 1
6-90494775-T-G c.1405A>C p.T469P Missense 9/102 - 1
6-90494776-C-A c.1404G>T p.W468C Missense 9/102 - 1
6-90494776-C-G c.1404G>C p.W468C Missense 9/102 - 1
6-90494776-C-T c.1404G>A p.W468* Nonsense 9/102 - 2
6-90494779-A-C c.1401T>G p.Y467* Nonsense 9/102 - 1
6-90494779-A-T c.1401T>A p.Y467* Nonsense 9/102 - 2
6-90494780-T-C c.1400A>G p.Y467C Missense 9/102 - 2
6-90494785-G-T c.1395C>A p.D465E Missense 9/102 - 1
6-90494786-T-C c.1394A>G p.D465G Missense 9/102 - 1
6-90494787-C-G c.1393G>C p.D465H Missense 9/102 - 2
6-90494789-AG-GC c.1390_1391delinsGC p.L464A Missense 9/102 - 1
6-90494798-G-A c.1382C>T p.A461V Missense 9/102 - 1
6-90494798-G-C c.1382C>G p.A461G Missense 9/102 - 1
6-90494800-A-G c.1380T>C p.H460= Synonymous 9/102 - 1
6-90494802-G-A c.1378C>T p.H460Y Missense 9/102 - 1
6-90494802-G-C c.1378C>G p.H460D Missense 9/102 - 3
6-90494805-T-G c.1375A>C p.S459R Missense 9/102 - 1
6-90494806-G-A c.1374C>T p.N458= Synonymous 9/102 - 1
6-90494807-T-C c.1373A>G p.N458S Missense 9/102 - 3
6-90494808-T-C c.1372A>G p.N458D Missense 9/102 - 1
6-90494810-AG-GA c.1369_1370delinsTC p.L457S Missense 9/102 - 1
6-90494813-G-T c.1367C>A p.P456Q Missense 9/102 - 1
6-90494814-G-A c.1366C>T p.P456S Missense 9/102 - 2
6-90494816-C-A c.1364G>T p.R455L Missense 9/102 - 1
6-90494816-C-T c.1364G>A p.R455Q Missense 9/102 - 2
6-90494817-G-A c.1363C>T p.R455* Nonsense 9/102 - 5
6-90494819-T-A c.1361A>T p.Y454F Missense 9/102 - 3
6-90494819-T-C c.1361A>G p.Y454C Missense 9/102 - 3
6-90494821-C-A c.1359G>T p.W453C Missense 9/102 - 1
6-90494823-A-G c.1357T>C p.W453R Missense 9/102 - 1
6-90494834-CA-GT c.1345_1346delinsAC p.C449T Missense 9/102 - 1
6-90494836-G-A c.1344C>T p.S448= Synonymous 9/102 - 1
6-90494837-C-T c.1343G>A p.S448N Missense 9/102 - 1
6-90494843-A-G c.1337T>C p.L446P Missense 9/102 - 1
6-90494844-G-C c.1336C>G p.L446V Missense 9/102 - 1
6-90494845-T-A c.1335A>T p.R445S Missense 9/102 - 1
6-90494845-T-G c.1335A>C p.R445S Missense 9/102 - 1
6-90497377-C-A c.1334+196G>T - IntronicSNV - 8/101 1
6-90497377-C-G c.1334+196G>C - IntronicSNV - 8/101 1
6-90497377-C-T c.1334+196G>A - IntronicSNV - 8/101 1
6-90497377-TC-T c.1334+196del - IntronicDeletion - 8/101 1
6-90497448-T-C c.1334+125A>G - IntronicSNV - 8/101 1
6-90497507-G-C c.1334+66C>G - IntronicSNV - 8/101 1
6-90497573-CT-TG c.1333_1334delinsCA p.R445Q Missense 8/102 - 2
6-90497575-C-A c.1332G>T p.R444S Missense 8/102 - 1
6-90497575-C-G c.1332G>C p.R444S Missense 8/102 - 1
6-90497581-T-A c.1326A>T p.A442= Synonymous 8/102 - 1
6-90497581-T-C c.1326A>G p.A442= Synonymous 8/102 - 1
6-90497581-T-G c.1326A>C p.A442= Synonymous 8/102 - 1
6-90497583-C-A c.1324G>T p.A442S Missense 8/102 - 1
6-90497587-A-G c.1320T>C p.F440= Synonymous 8/102 - 2
6-90497583-CA-C c.1323del p.F441Lfs*7 Frameshift 8/102 - 2
6-90497589-A-C c.1318T>G p.F440V Missense 8/102 - 27
6-90497592-G-C c.1315C>G p.Q439E Missense 8/102 - 1
6-90497598-C-T c.1309G>A p.G437R Missense 8/102 - 1
6-90497601-G-A c.1306C>T p.P436S Missense 8/102 - 1
6-90497603-G-C c.1304C>G p.A435G Missense 8/102 - 1
6-90497609-T-C c.1298A>G p.K433R Missense 8/102 - 1
6-90497611-C-T c.1296G>A p.L432= Synonymous 8/102 - 2
6-90497612-AG-GA c.1294_1295delinsTC p.L432S Missense 8/102 - 2
6-90497613-G-C c.1294C>G p.L432V Missense 8/102 - 1
6-90497615-C-T c.1292G>A p.C431Y Missense 8/102 - 1
6-90497617-G-C c.1290C>G p.D430E Missense 8/102 - 1
6-90497617-G-T c.1290C>A p.D430E Missense 8/102 - 1
6-90497618-T-A c.1289A>T p.D430V Missense 8/102 - 1
6-90497619-C-T c.1288G>A p.D430N Missense 8/102 - 2
6-90497623-TC-AT c.1283_1284delinsAT p.R428H Missense 8/102 - 1
6-90497625-G-A c.1282C>T p.R428* Nonsense 8/102 - 2
6-90497631-G-A c.1276C>T p.P426S Missense 8/102 - 1
6-90497631-G-T c.1276C>A p.P426T Missense 8/102 - 1
6-90497633-A-G c.1274T>C p.I425T Missense 8/102 - 1
6-90497634-T-C c.1273A>G p.I425V Missense 8/102 - 1
6-90497640-G-A c.1267C>T p.L423F UnclassifiedSNV 8/102 - 4
6-90497647-A-G c.1260T>C p.N420= Synonymous 8/102 - 1
6-90497655-A-C c.1252T>G p.L418V Missense 8/102 - 1
6-90497656-G-A c.1251C>T p.L417= Synonymous 8/102 - 1
6-90497656-G-C c.1251C>G p.L417= Synonymous 8/102 - 1
6-90497656-G-T c.1251C>A p.L417= Synonymous 8/102 - 1
6-90497660-G-A c.1247C>T p.P416L Missense 8/102 - 3
6-90497661-G-A c.1246C>T p.P416S Missense 8/102 - 1
6-90497667-G-A c.1240C>T p.L414= Synonymous 8/102 - 1
6-90497668-C-A c.1239G>T p.V413= Synonymous 8/102 - 1
6-90497668-C-G c.1239G>C p.V413= Synonymous 8/102 - 1
6-90497668-C-T c.1239G>A p.V413= Synonymous 8/102 - 1
6-90497674-AAC-CAT c.1231_1233delinsATG p.V411M Missense 8/102 - 2
6-90497676-C-T c.1231G>A p.V411I Missense 8/102 - 1
6-90497693-C-T c.1231-17G>A - IntronicSNV - 7/101 1
6-90497814-G-A c.1231-138C>T - IntronicSNV - 7/101 4
6-90499502-G-A c.1227C>T p.D409= Synonymous 7/102 - 10
6-90499504-C-CT c.1224dup p.D409Rfs*22 Frameshift 7/102 - 1
6-90499505-T-A c.1224A>T p.L408F Missense 7/102 - 1
6-90499508-G-T c.1221C>A p.P407= Synonymous 7/102 - 1
6-90499509-G-A c.1220C>T p.P407L Missense 7/102 - 1
6-90499510-G-A c.1219C>T p.P407S Missense 7/102 - 2
6-90499511-G-A c.1218C>T p.A406= Synonymous 7/102 - 1
6-90499511-G-C c.1218C>G p.A406= Synonymous 7/102 - 1
6-90499511-G-T c.1218C>A p.A406= Synonymous 7/102 - 1
6-90499507-A-AG c.1221dup p.D409Rfs*22 Frameshift 7/102 - 2
6-90499522-T-C c.1207A>G p.I403V Missense 7/102 - 2
6-90499528-C-A c.1201G>T p.E401* Nonsense 7/102 - 2
6-90499528-C-T c.1201G>A p.E401K Missense 7/102 - 1
6-90499533-A-G c.1196T>C p.L399P Missense 7/102 - 1
6-90499534-G-A c.1195C>T p.L399F Missense 7/102 - 1
6-90499534-G-T c.1195C>A p.L399I Missense 7/102 - 1
6-90499535-G-A c.1194C>T p.I398= Synonymous 7/102 - 1
6-90499535-G-C c.1194C>G p.I398M Missense 7/102 - 4
6-90499535-G-T c.1194C>A p.I398= Synonymous 7/102 - 1
6-90499541-G-C c.1188C>G p.H396Q Missense 7/102 - 1
6-90499543-G-A c.1186C>T p.H396Y Missense 7/102 - 1
6-90499548-A-G c.1181T>C p.M394T Missense 7/102 - 1
6-90499552-T-C c.1177A>G p.T393A Missense 7/102 - 1
6-90499554-G-A c.1175C>T p.A392V Missense 7/102 - 1
6-90499554-G-C c.1175C>G p.A392G Missense 7/102 - 1
6-90499555-C-T c.1174G>A p.A392T Missense 7/102 - 1
6-90499558-C-A c.1171G>T p.A391S Missense 7/102 - 1
6-90499558-C-G c.1171G>C p.A391P Missense 7/102 - 2
6-90499558-C-T c.1171G>A p.A391T Missense 7/102 - 1
6-90499561-G-GGCACCC c.1167_1168insGGGTGC p.T389_Q390insGC InFrameInsertion 7/102 - 1
6-90499562-TG-CA c.1166_1167inv p.T389M Missense 7/102 - 3
6-90499562-TGT-ACA c.1165_1167inv p.T389C Missense 7/102 - 1
6-90499564-T-A c.1165A>T p.T389S Missense 7/102 - 2
6-90499564-T-C c.1165A>G p.T389A Missense 7/102 - 1
6-90499567-AGGGTGC-A c.1157_1162del p.G386_L388delinsV MultiAAMissense 7/102 - 1
6-90499569-G-T c.1160C>A p.T387N Missense 7/102 - 1
6-90499575-G-C c.1154C>G p.P385R Missense 7/102 - 1
6-90499578-T-A c.1151A>T p.Q384L Missense 7/102 - 1
6-90499580-C-T c.1149G>A p.W383* Nonsense 7/102 - 1
6-90499581-C-T c.1148G>A p.W383* Nonsense 7/102 - 1
6-90499591-C-A c.1138G>T p.E380* Nonsense 7/102 - 4
6-90499592-T-A c.1137A>T p.G379= Synonymous 7/102 - 1
6-90499593-C-G c.1136G>C p.G379A Missense 7/102 - 1
6-90499593-C-T c.1136G>A p.G379E Missense 7/102 - 1
6-90499596-G-A c.1133C>T p.P378L Missense 7/102 - 3
6-90499600-C-T c.1129G>A p.V377I Missense 7/102 - 1
6-90499604-TG-CA c.1124_1125inv p.T375M Missense 7/102 - 1
6-90499608-C-A c.1121G>T p.C374F Missense 7/102 - 1
6-90499611-C-T c.1118G>A p.R373H Missense 7/102 - 1
6-90499619-C-T c.1110G>A p.G370= Synonymous 7/102 - 1
6-90499624-A-G c.1105T>C p.L369= Synonymous 7/102 - 1
6-90499627-G-A c.1102C>T p.L368F Missense 7/102 - 1
6-90499630-T-C c.1099A>G p.M367V Missense 7/102 - 1
6-90499879-T-A c.1097A>T p.K366M Missense 6/102 - 1
6-90499881-A-G c.1095T>C p.S365= Synonymous 6/102 - 2
6-90499889-T-C c.1087A>G p.T363A Missense 6/102 - 1
6-90499892-G-A c.1084C>T p.Q362* Nonsense 6/102 - 3
6-90499896-T-A c.1080A>T p.G360= Synonymous 6/102 - 1
6-90499896-T-C c.1080A>G p.G360= Synonymous 6/102 - 1
6-90499896-T-G c.1080A>C p.G360= Synonymous 6/102 - 1
6-90499898-C-G c.1078G>C p.G360R Missense 6/102 - 1
6-90499901-G-A c.1075C>T p.L359F Missense 6/102 - 1
6-90499902-C-A c.1074G>T p.Q358H Missense 6/102 - 2
6-90499902-C-G c.1074G>C p.Q358H Missense 6/102 - 3
6-90499903-T-C c.1073A>G p.Q358R Missense 6/102 - 1
6-90499904-G-C c.1072C>G p.Q358E Missense 6/102 - 1
6-90499905-G-A c.1071C>T p.V357= Synonymous 6/102 - 1
6-90499905-G-C c.1071C>G p.V357= Synonymous 6/102 - 1
6-90499905-G-T c.1071C>A p.V357= Synonymous 6/102 - 1
6-90499916-G-A c.1060C>T p.L354F Missense 6/102 - 1
6-90499917-C-A c.1059G>T p.Q353H Missense 6/102 - 1
6-90499917-C-G c.1059G>C p.Q353H Missense 6/102 - 1
6-90499919-G-T c.1057C>A p.Q353K Missense 6/102 - 1
6-90499920-A-C c.1056T>G p.P352= Synonymous 6/102 - 1
6-90499920-A-G c.1056T>C p.P352= Synonymous 6/102 - 1
6-90499920-A-T c.1056T>A p.P352= Synonymous 6/102 - 1
6-90499920-GAGGAGGCTTTGTTCTACCT-G c.1038_1056del p.G347Sfs*36 Frameshift 6/102 - 1
6-90499921-G-A c.1055C>T p.P352L Missense 6/102 - 1
6-90499923-A-G c.1053T>C p.P351= Synonymous 6/102 - 1
6-90499925-G-T c.1051C>A p.P351T Missense 6/102 - 2
6-90499926-C-T c.1050G>A p.K350= Synonymous 6/102 - 2
6-90499927-T-A c.1049A>T p.K350M Missense 6/102 - 1
6-90499929-T-A c.1047A>T p.T349= Synonymous 6/102 - 1
6-90499930-G-A c.1046C>T p.T349I Missense 6/102 - 1
6-90499933-C-T c.1043G>A p.R348K Missense 6/102 - 1
6-90499936-C-G c.1040G>C p.G347A Missense 6/102 - 2
6-90499936-C-T c.1040G>A p.G347D Missense 6/102 - 1
6-90499937-C-G c.1039G>C p.G347R Missense 6/102 - 1
6-90499943-C-T c.1033G>A p.V345M Missense 6/102 - 2
6-90499944-T-C c.1032A>G p.A344= Synonymous 6/102 - 1
6-90499946-C-T c.1030G>A p.A344T Missense 6/102 - 1
6-90499949-C-G c.1027G>C p.A343P Missense 6/102 - 1
6-90499950-T-C c.1026A>G p.L342= Synonymous 6/102 - 3
6-90499952-A-G c.1024T>C p.L342= Synonymous 6/102 - 2
6-90499955-A-T c.1021T>A p.Y341N Missense 6/102 - 1
6-90499958-C-T c.1018G>A p.E340K Missense 6/102 - 1
6-90499966-G-A c.1010C>T p.S337F Missense 6/102 - 2
6-90499978-C-A c.998G>T p.C333F Missense 6/102 - 2
6-90499980-TCC-ACA c.994_996delinsTGT p.G332C Missense 6/102 - 1
6-90499981-C-A c.995G>T p.G332V Missense 6/102 - 1
6-90499981-C-T c.995G>A p.G332E Missense 6/102 - 1
6-90499983-TA-GT c.992_993delinsAC p.I331N Missense 6/102 - 1
6-90499985-T-C c.991A>G p.I331V Missense 6/102 - 1
6-90499986-T-G c.990A>C p.P330= Synonymous 6/102 - 1
6-90499987-G-A c.989C>T p.P330L Missense 6/102 - 2
6-90499987-G-T c.989C>A p.P330Q Missense 6/102 - 1
6-90499988-G-A c.988C>T p.P330S Missense 6/102 - 3
6-90499990-C-T c.986G>A p.G329E Missense 6/102 - 1
6-90499995-C-G c.981G>C p.L327F Missense 6/102 - 1
6-90499995-C-T c.981G>A p.L327= Synonymous 6/102 - 1
6-90499997-A-G c.979T>C p.L327= Synonymous 6/102 - 1
6-90500001-CAC-GAT c.973_975delinsATC p.V325I Missense 6/102 - 2
6-90500003-C-T c.973G>A p.V325M Missense 6/102 - 1
6-90500005-G-A c.971C>T p.A324V Missense 6/102 - 1
6-90500006-C-T c.970G>A p.A324T Missense 6/102 - 1
6-90500009-T-C c.967A>G p.N323D Missense 6/102 - 1
6-90500009-T-G c.967A>C p.N323H Missense 6/102 - 1
6-90500012-G-C c.964C>G p.Q322E Missense 6/102 - 1
6-90500017-G-C c.959C>G p.A320G Missense 6/102 - 1
6-90500017-GC-CA c.958_959delinsTG p.A320C Missense 6/102 - 1
6-90500018-C-T c.958G>A p.A320T Missense 6/102 - 1
6-90500020-A-C c.956T>G p.V319G Missense 6/102 - 1
6-90500023-G-A c.953C>T p.A318V Missense 6/102 - 4
6-90500023-G-T c.953C>A p.A318E Missense 6/102 - 1
6-90500024-C-A c.952G>T p.A318S Missense 6/102 - 1
6-90500024-C-T c.952G>A p.A318T Missense 6/102 - 3
6-90500025-C-A c.951G>T p.M317I Missense 6/102 - 1
6-90500027-T-C c.949A>G p.M317V Missense 6/102 - 1
6-90500029-G-A c.947C>T p.A316V Missense 6/102 - 1
6-90500030-C-T c.946G>A p.A316T Missense 6/102 - 1
6-90500031-CAG-AAA c.943_945delinsTTT p.L315F Missense 6/102 - 1
6-90500032-A-T c.944T>A p.L315Q Missense 6/102 - 1
6-90500033-G-C c.943C>G p.L315V Missense 6/102 - 2
6-90500033-G-T c.943C>A p.L315M Missense 6/102 - 1
6-90500034-G-A c.942C>T p.T314= Synonymous 6/102 - 1
6-90500035-G-A c.941C>T p.T314I Missense 6/102 - 1
6-90500038-T-A c.938A>T p.Q313L Missense 6/102 - 1
6-90500040-A-C c.936T>G p.L312= Synonymous 6/102 - 1
6-90500040-A-G c.936T>C p.L312= Synonymous 6/102 - 1
6-90500040-A-T c.936T>A p.L312= Synonymous 6/102 - 1
6-90500042-G-A c.934C>T p.L312F Missense 6/102 - 1
6-90500044-CT-AA c.931_932delinsTT p.S311F Missense 6/102 - 1
6-90500048-T-A c.928A>T p.K310* Nonsense 6/102 - 1
6-90500049-G-A c.927C>T p.C309= Synonymous 6/102 - 1
6-90500052-G-A c.924C>T p.V308= Synonymous 6/102 - 1
6-90500052-G-C c.924C>G p.V308= Synonymous 6/102 - 1
6-90500052-G-T c.924C>A p.V308= Synonymous 6/102 - 1
6-90500060-C-G c.916G>C p.E306Q Missense 6/102 - 2
6-90500061-AAC-CAT c.913_915delinsATG p.V305M Missense 6/102 - 1
6-90500062-A-G c.914T>C p.V305A Missense 6/102 - 1
6-90500067-GCAC-G c.907_909del p.V303del InFrameDeletion 6/102 - 1
6-90500071-T-C c.905A>G p.Y302C Missense 6/102 - 1
6-90500074-G-A c.902C>T p.S301F Missense 6/102 - 2
6-90500074-G-C c.902C>G p.S301C Missense 6/102 - 1
6-90500076-C-T c.900G>A p.R300= Synonymous 6/102 - 1
6-90500077-C-G c.899G>C p.R300T Missense 6/102 - 1
6-90500078-T-C c.898A>G p.R300G Missense 6/102 - 4
6-90500079-AAG-CCA c.895_897delinsTGG p.L299W Missense 6/102 - 1
6-90500080-A-G c.896T>C p.L299P Missense 6/102 - 1
6-90500085-C-A c.891G>T p.L297= Synonymous 6/102 - 1
6-90500085-C-G c.891G>C p.L297= Synonymous 6/102 - 1
6-90500085-C-T c.891G>A p.L297= Synonymous 6/102 - 1
6-90500087-G-A c.889C>T p.L297= Synonymous 6/102 - 1
6-90500091-C-A c.885G>T p.Q295H Missense 6/102 - 1
6-90500098-C-T c.878G>A p.R293H Missense 6/102 - 1
6-90500100-T-A c.876A>T p.S292= Synonymous 6/102 - 1
6-90500100-T-C c.876A>G p.S292= Synonymous 6/102 - 2
6-90500100-T-G c.876A>C p.S292= Synonymous 6/102 - 1
6-90500100-TG-AA c.875_876delinsTT p.S292F Missense 6/102 - 1
6-90500101-G-A c.875C>T p.S292L Missense 6/102 - 2
6-90500104-G-T c.872C>A p.S291Y Missense 6/102 - 1
6-90500107-C-G c.869G>C p.S290T Missense 6/102 - 1
6-90500109-CCT-ACA c.865_867delinsTGT p.R289C Missense 6/102 - 1
6-90500113-T-C c.863A>G p.N288S Missense 6/102 - 1
6-90500116-C-A c.860G>T p.G287V Missense 6/102 - 1
6-90500116-C-T c.860G>A p.G287D Missense 6/102 - 2
6-90500117-C-G c.859G>C p.G287R Missense 6/102 - 1
6-90500117-C-T c.859G>A p.G287S Missense 6/102 - 3
6-90500130-C-T c.856-10G>A - IntronicSNV - 5/101 5
6-90503482-A-C c.854T>G p.L285R Missense 5/102 - 1
6-90503483-G-A c.853C>T p.L285= Synonymous 5/102 - 1
6-90503483-G-T c.853C>A p.L285M Missense 5/102 - 1
6-90503484-C-A c.852G>T p.E284D Missense 5/102 - 1
6-90503484-C-G c.852G>C p.E284D Missense 5/102 - 1
6-90503486-C-A c.850G>T p.E284* Nonsense 5/102 - 2
6-90503487-T-A c.849A>T p.G283= Synonymous 5/102 - 1
6-90503487-T-C c.849A>G p.G283= Synonymous 5/102 - 1
6-90503487-T-G c.849A>C p.G283= Synonymous 5/102 - 1
6-90503489-C-G c.847G>C p.G283R Missense 5/102 - 1
6-90503489-C-T c.847G>A p.G283R Missense 5/102 - 3
6-90503490-A-C c.846T>G p.P282= Synonymous 5/102 - 1
6-90503492-G-A c.844C>T p.P282S Missense 5/102 - 1
6-90503498-G-A c.838C>T p.P280S Missense 5/102 - 1
6-90503500-AG-CA c.835_836delinsTG p.L279W Missense 5/102 - 1
6-90503503-T-A c.833A>T p.Q278L Missense 5/102 - 1
6-90503504-G-A c.832C>T p.Q278* Nonsense 5/102 - 1
6-90503504-G-T c.832C>A p.Q278K Missense 5/102 - 2
6-90503505-CCC-GCT c.829_831delinsAGC p.G277S Missense 5/102 - 1
6-90503508-A-C c.828T>G p.P276= Synonymous 5/102 - 1
6-90503508-A-G c.828T>C p.P276= Synonymous 5/102 - 1
6-90503508-A-T c.828T>A p.P276= Synonymous 5/102 - 1
6-90503517-C-T c.819G>A p.V273= Synonymous 5/102 - 1
6-90503521-C-A c.815G>T p.G272V Missense 5/102 - 1
6-90503521-C-G c.815G>C p.G272A Missense 5/102 - 1
6-90503521-C-T c.815G>A p.G272D Missense 5/102 - 2
6-90503523-A-C c.813T>G p.C271W Missense 5/102 - 1
6-90503524-C-A c.812G>T p.C271F Missense 5/102 - 1
6-90503524-C-T c.812G>A p.C271Y Missense 5/102 - 1
6-90503524-C-G c.812G>C p.C271S Missense 5/102 - 2
6-90503525-A-T c.811T>A p.C271S Missense 5/102 - 2
6-90503532-TG-GT c.803_804delinsAC p.T268N Missense 5/102 - 1
6-90503533-G-A c.803C>T p.T268I Missense 5/102 - 1
6-90503534-T-C c.802A>G p.T268A Missense 5/102 - 1
6-90503535-CAC-GAT c.799_801delinsATC p.V267I Missense 5/102 - 1
6-90503537-C-A c.799G>T p.V267L Missense 5/102 - 1
6-90503538-CCT-ACA c.796_798delinsTGT p.R266C Missense 5/102 - 1
6-90503539-C-G c.797G>C p.R266T Missense 5/102 - 1
6-90503539-C-T c.797G>A p.R266K Missense 5/102 - 1
6-90503541-A-C c.795T>G p.P265= Synonymous 5/102 - 1
6-90503541-A-G c.795T>C p.P265= Synonymous 5/102 - 1
6-90503541-A-T c.795T>A p.P265= Synonymous 5/102 - 1
6-90503542-G-A c.794C>T p.P265L Missense 5/102 - 1
6-90503544-G-A c.792C>T p.S264= Synonymous 5/102 - 3
6-90503544-G-C c.792C>G p.S264= Synonymous 5/102 - 1
6-90503544-GGA-CTT c.790_792delinsAAG p.S264K Missense 5/102 - 1
6-90503544-G-T c.792C>A p.S264= Synonymous 5/102 - 1
6-90503545-G-A c.791C>T p.S264F Missense 5/102 - 3
6-90503545-G-C c.791C>G p.S264C Missense 5/102 - 1
6-90503547-G-T c.789C>A p.L263= Synonymous 5/102 - 1
6-90503549-G-T c.787C>A p.L263I Missense 5/102 - 1
6-90503552-C-G c.784G>C p.D262H Missense 5/102 - 1
6-90503554-G-C c.782C>G p.S261C Missense 5/102 - 1
6-90503557-G-A c.779C>T p.S260L Missense 5/102 - 3
6-90503561-C-T c.775G>A p.V259I Missense 5/102 - 2
6-90503562-A-C c.774T>G p.L258= Synonymous 5/102 - 1
6-90503562-A-G c.774T>C p.L258= Synonymous 5/102 - 1
6-90503562-A-T c.774T>A p.L258= Synonymous 5/102 - 1
6-90503569-C-A c.767G>T p.G256V Missense 5/102 - 1
6-90503569-C-G c.767G>C p.G256A Missense 5/102 - 1
6-90503569-C-T c.767G>A p.G256E Missense 5/102 - 1
6-90503584-AG-GA c.751_752delinsTC p.L251S Missense 5/102 - 1
6-90503585-G-A c.751C>T p.L251= Synonymous 5/102 - 1
6-90503586-C-T c.750G>A p.E250= Synonymous 5/102 - 1
6-90503588-C-T c.748G>A p.E250K Missense 5/102 - 1
6-90503589-C-G c.747G>C p.K249N Missense 5/102 - 1
6-90503591-T-G c.745A>C p.K249Q Missense 5/102 - 1
6-90503594-G-T c.742C>A p.Q248K Missense 5/102 - 1
6-90503597-T-C c.739A>G p.K247E Missense 5/102 - 1
6-90503598-ACG-CTT c.736_738delinsAAG p.R246K Missense 5/102 - 1
6-90503599-C-T c.737G>A p.R246H Missense 5/102 - 1
6-90503600-G-A c.736C>T p.R246C Missense 5/102 - 6
6-90503606-G-A c.730C>T p.L244F Missense 5/102 - 1
6-90503607-G-A c.729C>T p.S243= Synonymous 5/102 - 2
6-90503607-G-C c.729C>G p.S243= Synonymous 5/102 - 2
6-90503607-G-T c.729C>A p.S243= Synonymous 5/102 - 3
6-90503608-G-A c.728C>T p.S243F Missense 5/102 - 2
6-90503609-A-T c.727T>A p.S243T Missense 5/102 - 1
6-90503612-C-A c.724G>T p.V242F Missense 5/102 - 1
6-90503615-C-A c.721G>T p.E241* Nonsense 5/102 - 1
6-90503615-C-G c.721G>C p.E241Q Missense 5/102 - 1
6-90503617-G-A c.719C>T p.P240L Missense 5/102 - 1
6-90503622-G-T c.714C>A p.A238= Synonymous 5/102 - 1
6-90503623-G-A c.713C>T p.A238V Missense 5/102 - 3
6-90503630-C-T c.706G>A p.V236I Missense 5/102 - 1
6-90503634-G-A c.702C>T p.A234= Synonymous 5/102 - 1
6-90503634-G-C c.702C>G p.A234= Synonymous 5/102 - 1
6-90503634-G-T c.702C>A p.A234= Synonymous 5/102 - 1
6-90503642-C-G c.694G>C p.E232Q Missense 5/102 - 1
6-90503644-A-G c.692T>C p.L231S Missense 5/102 - 3
6-90503643-C-T c.693G>A p.L231= Synonymous 5/102 - 1
6-90503645-A-G c.691T>C p.L231= Synonymous 5/102 - 1
6-90503650-T-A c.686A>T p.Q229L Missense 5/102 - 5
6-90503653-A-G c.683T>C p.L228S Missense 5/102 - 1
6-90503652-C-T c.684G>A p.L228= Synonymous 5/102 - 1
6-90503654-A-G c.682T>C p.L228= Synonymous 5/102 - 1
6-90503660-C-T c.676G>A p.A226T Missense 5/102 - 1
6-90503663-C-G c.673G>C p.E225Q Missense 5/102 - 2
6-90503664-T-C c.672A>G p.E224= Synonymous 5/102 - 1
6-90503670-T-C c.666A>G p.L222= Synonymous 5/102 - 1
6-90503672-A-G c.664T>C p.L222= Synonymous 5/102 - 1
6-90503766-GA-G c.662+52del - IntronicDeletion - 4/101 2
6-90503825-C-T c.656G>A p.R219K Missense 4/102 - 2
6-90503825-CT-TG c.655_656delinsCA p.R219Q Missense 4/102 - 1
6-90503830-A-G c.651T>C p.H217= Synonymous 4/102 - 1
6-90503832-G-A c.649C>T p.H217Y Missense 4/102 - 1
6-90503836-C-A c.645G>T p.L215F Missense 4/102 - 1
6-90503838-A-T c.643T>A p.L215M Missense 4/102 - 1
6-90503839-T-C c.642A>G p.E214= Synonymous 4/102 - 1
6-90503842-A-G c.639T>C p.D213= Synonymous 4/102 - 2
6-90503844-C-T c.637G>A p.D213N Missense 4/102 - 8
6-90503846-C-T c.635G>A p.S212N Missense 4/102 - 1
6-90503852-A-G c.629T>C p.F210S Missense 4/102 - 1
6-90503860-C-A c.621G>T p.K207N Missense 4/102 - 1
6-90503860-C-T c.621G>A p.K207= Synonymous 4/102 - 1
6-90503863-AAG-CCA c.616_618delinsTGG p.L206W Missense 4/102 - 1
6-90503879-T-C c.602A>G p.H201R Missense 4/102 - 1
6-90503880-G-A c.601C>T p.H201Y Missense 4/102 - 1
6-90503880-G-C c.601C>G p.H201D Missense 4/102 - 1
6-90503881-C-T c.600G>A p.E200= Synonymous 4/102 - 1
6-90503883-C-T c.598G>A p.E200K Missense 4/102 - 1
6-90503886-C-T c.595G>A p.E199K Missense 4/102 - 2
6-90503890-C-A c.591G>T p.M197I Missense 4/102 - 3
6-90503890-C-G c.591G>C p.M197I Missense 4/102 - 4
6-90503890-C-T c.591G>A p.M197I Missense 4/102 - 3
6-90503891-A-G c.590T>C p.M197T Missense 4/102 - 2
6-90503894-C-T c.587G>A p.C196Y Missense 4/102 - 1
6-90503894-C-G c.587G>C p.C196S Missense 4/102 - 6
6-90503895-A-T c.586T>A p.C196S Missense 4/102 - 4
6-90503896-GG-CA c.584_585delinsTG p.T195M Missense 4/102 - 1
6-90503897-G-T c.584C>A p.T195N Missense 4/102 - 1
6-90503899-AAC-CAT c.580_582delinsATG p.V194M Missense 4/102 - 1
6-90503901-C-A c.580G>T p.V194F Missense 4/102 - 1
6-90503907-C-A c.574G>T p.A192S Missense 4/102 - 4
6-90503916-T-G c.565A>C p.N189H Missense 4/102 - 1
6-90503918-G-C c.563C>G p.A188G Missense 4/102 - 2
6-90503921-G-C c.560C>G p.T187R Missense 4/102 - 1
6-90503921-GT-CC c.559_560delinsGG p.T187G Missense 4/102 - 1
6-90504299-C-A c.551G>T p.R184L Missense 3/102 - 1
6-90504299-C-T c.551G>A p.R184H Missense 3/102 - 1
6-90504300-G-A c.550C>T p.R184C Missense 3/102 - 6
6-90504303-C-A c.547G>T p.V183F Missense 3/102 - 1
6-90504303-C-T c.547G>A p.V183I Missense 3/102 - 1
6-90504309-T-C c.541A>G p.T181A Missense 3/102 - 1
6-90504309-T-G c.541A>C p.T181P Missense 3/102 - 1
6-90504312-C-A c.538G>T p.D180Y Missense 3/102 - 1
6-90504315-G-A c.535C>T p.H179Y Missense 3/102 - 1
6-90504316-G-A c.534C>T p.S178= Synonymous 3/102 - 2
6-90504317-C-A c.533G>T p.S178I Missense 3/102 - 7
6-90504317-C-G c.533G>C p.S178T Missense 3/102 - 1
6-90504319-TC-CA c.530_531delinsTG p.R177M Missense 3/102 - 1
6-90504319-TCT-ATG c.529_531delinsCAT p.R177H Missense 3/102 - 1
6-90504322-G-A c.528C>T p.L176= Synonymous 3/102 - 2
6-90504322-G-C c.528C>G p.L176= Synonymous 3/102 - 2
6-90504322-G-T c.528C>A p.L176= Synonymous 3/102 - 2
6-90504325-G-A c.525C>T p.L175= Synonymous 3/102 - 1
6-90504330-G-T c.520C>A p.P174T Missense 3/102 - 1
6-90504331-G-A c.519C>T p.V173= Synonymous 3/102 - 1
6-90504331-G-C c.519C>G p.V173= Synonymous 3/102 - 1
6-90504331-G-T c.519C>A p.V173= Synonymous 3/102 - 1
6-90504333-C-T c.517G>A p.V173I Missense 3/102 - 2
6-90504335-C-G c.515G>C p.C172S Missense 3/102 - 2
6-90504336-A-T c.514T>A p.C172S Missense 3/102 - 1
6-90504337-C-A c.513G>T p.V171= Synonymous 3/102 - 1
6-90504337-CAC-GAT c.511_513delinsATC p.V171I Missense 3/102 - 1
6-90504337-C-G c.513G>C p.V171= Synonymous 3/102 - 1
6-90504337-C-T c.513G>A p.V171= Synonymous 3/102 - 1
6-90504338-A-C c.512T>G p.V171G Missense 3/102 - 1
6-90504339-C-T c.511G>A p.V171M Missense 3/102 - 1
6-90504331-GAC-G c.517_518del p.V173Pfs*7 Frameshift 3/102 - 5
6-90504341-C-T c.509G>A p.S170N Missense 3/102 - 2
6-90504342-T-C c.508A>G p.S170G Missense 3/102 - 1
6-90504343-C-A c.507G>T p.W169C Missense 3/102 - 2
6-90504343-C-G c.507G>C p.W169C Missense 3/102 - 1
6-90504346-G-A c.504C>T p.D168= Synonymous 3/102 - 1
6-90504348-C-T c.502G>A p.D168N Missense 3/102 - 3
6-90504350-C-A c.500G>T p.W167L Missense 3/102 - 1
6-90504352-G-A c.498C>T p.L166= Synonymous 3/102 - 2
6-90504352-G-C c.498C>G p.L166= Synonymous 3/102 - 2
6-90504352-G-T c.498C>A p.L166= Synonymous 3/102 - 2
6-90504355-C-T c.495G>A p.E165= Synonymous 3/102 - 1
6-90504358-CCG-GCT c.490_492delinsAGC p.R164S Missense 3/102 - 1
6-90504359-C-A c.491G>T p.R164L Missense 3/102 - 1
6-90504359-C-T c.491G>A p.R164Q Missense 3/102 - 1
6-90504360-G-A c.490C>T p.R164W Missense 3/102 - 2
6-90504361-G-C c.489C>G p.F163L Missense 3/102 - 1
6-90504364-CAC-GAT c.484_486delinsATC p.V162I Missense 3/102 - 1
6-90504368-GA-TT c.481_482delinsAA p.S161N Missense 3/102 - 1
6-90504371-T-A c.479A>T p.Q160L Missense 3/102 - 1
6-90504371-T-C c.479A>G p.Q160R Missense 3/102 - 1
6-90504372-G-T c.478C>A p.Q160K Missense 3/102 - 1
6-90504373-C-T c.477G>A p.E159= Synonymous 3/102 - 1
6-90504373-GC-G c.477del p.E159Dfs*39 Frameshift 3/102 - 1
6-90504375-C-T c.475G>A p.E159K Missense 3/102 - 1
6-90504382-C-T c.468G>A p.L156= Synonymous 3/102 - 1
6-90504384-G-A c.466C>T p.L156= Synonymous 3/102 - 1
6-90504395-G-A c.455C>T p.A152V Missense 3/102 - 1
6-90504396-C-T c.454G>A p.A152T Missense 3/102 - 1
6-90504397-T-C c.453A>G p.A151= Synonymous 3/102 - 1
6-90504398-G-A c.452C>T p.A151V Missense 3/102 - 1
6-90504399-GC-G c.451del p.A151Qfs*47 Frameshift 3/102 - 1
6-90504402-C-A c.448G>T p.E150* Nonsense 3/102 - 1
6-90504403-C-A c.447G>T p.M149I Missense 3/102 - 1
6-90504403-C-G c.447G>C p.M149I Missense 3/102 - 1
6-90504403-C-T c.447G>A p.M149I Missense 3/102 - 1
6-90504413-C-T c.437G>A p.R146Q Missense 3/102 - 1
6-90504414-G-A c.436C>T p.R146W Missense 3/102 - 2
6-90504417-G-C c.433C>G p.L145V Missense 3/102 - 1
6-90504421-C-A c.429G>T p.M143I Missense 3/102 - 1
6-90504421-C-G c.429G>C p.M143I Missense 3/102 - 1
6-90504421-C-T c.429G>A p.M143I Missense 3/102 - 1
6-90504422-A-G c.428T>C p.M143T Missense 3/102 - 1
6-90504423-T-A c.427A>T p.M143L Missense 3/102 - 1
6-90504423-T-C c.427A>G p.M143V Missense 3/102 - 1
6-90504423-T-G c.427A>C p.M143L Missense 3/102 - 1
6-90504424-C-T c.426G>A p.R142= Synonymous 3/102 - 1
6-90504427-C-T c.423G>A p.R141= Synonymous 3/102 - 1
6-90504429-T-G c.421A>C p.R141= Synonymous 3/102 - 1
6-90504429-T-A c.421A>T p.R141W Missense 3/102 - 1
6-90504429-T-C c.421A>G p.R141G Missense 3/102 - 2
6-90504430-ACG-CTT c.418_420delinsAAG p.R140K Missense 3/102 - 1
6-90504431-C-G c.419G>C p.R140P Missense 3/102 - 1
6-90504431-C-T c.419G>A p.R140H Missense 3/102 - 7
6-90504432-G-T c.418C>A p.R140S Missense 3/102 - 1
6-90504438-A-T c.412T>A p.Y138N Missense 3/102 - 1
6-90504440-C-A c.410G>T p.R137L Missense 3/102 - 1
6-90504441-G-A c.409C>T p.R137C Missense 3/102 - 2
6-90504443-A-G c.407T>C p.V136A Missense 3/102 - 3
6-90504445-T-A c.405A>T p.P135= Synonymous 3/102 - 1
6-90504445-T-C c.405A>G p.P135= Synonymous 3/102 - 1
6-90504445-T-G c.405A>C p.P135= Synonymous 3/102 - 1
6-90504449-T-C c.401A>G p.N134S Missense 3/102 - 1
6-90504453-C-T c.397G>A p.A133T Missense 3/102 - 2
6-90504454-A-T c.396T>A p.D132E Missense 3/102 - 1
6-90504456-C-T c.394G>A p.D132N Missense 3/102 - 1
6-90504457-T-C c.393A>G p.S131= Synonymous 3/102 - 1
6-90504458-G-A c.392C>T p.S131L Missense 3/102 - 1
6-90504461-C-T c.389G>A p.S130N Missense 3/102 - 1
6-90504462-T-A c.388A>T p.S130C Missense 3/102 - 3
6-90504463-C-G c.387G>C p.E129D Missense 3/102 - 1
6-90504465-C-A c.385G>T p.E129* Nonsense 3/102 - 1
6-90504465-C-T c.385G>A p.E129K Missense 3/102 - 2
6-90504466-T-A c.384A>T p.L128= Synonymous 3/102 - 1
6-90504466-T-C c.384A>G p.L128= Synonymous 3/102 - 1
6-90504466-T-G c.384A>C p.L128= Synonymous 3/102 - 1
6-90504468-G-A c.382C>T p.L128= Synonymous 3/102 - 2
6-90504469-G-A c.381C>T p.F127= Synonymous 3/102 - 2
6-90504470-A-G c.380T>C p.F127S Missense 3/102 - 1
6-90504469-G-C c.381C>G p.F127L Missense 3/102 - 2
6-90504469-G-T c.381C>A p.F127L Missense 3/102 - 1
6-90504471-A-G c.379T>C p.F127L Missense 3/102 - 1
6-90504472-A-C c.378T>G p.L126= Synonymous 3/102 - 1
6-90504472-A-G c.378T>C p.L126= Synonymous 3/102 - 1
6-90504472-A-T c.378T>A p.L126= Synonymous 3/102 - 1
6-90504475-T-A c.375A>T p.R125S Missense 3/102 - 1
6-90504475-TCT-ATG c.373_375delinsCAT p.R125H Missense 3/102 - 2
6-90504475-T-G c.375A>C p.R125S Missense 3/102 - 1
6-90504476-C-A c.374G>T p.R125I Missense 3/102 - 1
6-90504480-G-C c.370C>G p.Q124E Missense 3/102 - 3
6-90504483-A-T c.367T>A p.F123I Missense 3/102 - 1
6-90504485-A-G c.365T>C p.V122A Missense 3/102 - 1
6-90504486-C-T c.364G>A p.V122I Missense 3/102 - 2
6-90504491-G-A c.359C>T p.S120F Missense 3/102 - 1
6-90504491-GA-AG c.358_359delinsCT p.S120L Missense 3/102 - 1
6-90504491-GA-CG c.358_359delinsCG p.S120R Missense 3/102 - 1
6-90504491-G-C c.359C>G p.S120C Missense 3/102 - 1
6-90504495-T-C c.355A>G p.T119A Missense 3/102 - 1
6-90504496-G-C c.354C>G p.D118E Missense 3/102 - 2
6-90504496-G-T c.354C>A p.D118E Missense 3/102 - 2
6-90504497-T-C c.353A>G p.D118G Missense 3/102 - 1
6-90504502-G-C c.348C>G p.F116L Missense 3/102 - 1
6-90504504-A-C c.346T>G p.F116V Missense 3/102 - 1
6-90504509-C-A c.341G>T p.R114I Missense 3/102 - 1
6-90504509-C-T c.341G>A p.R114K Missense 3/102 - 1
6-90504510-T-G c.340A>C p.R114= Synonymous 3/102 - 1
6-90504513-G-A c.337C>T p.L113= Synonymous 3/102 - 1
6-90504514-G-A c.336C>T p.A112= Synonymous 3/102 - 1
6-90504515-G-T c.335C>A p.A112D Missense 3/102 - 1
6-90504518-A-T c.332T>A p.F111Y Missense 3/102 - 2
6-90504519-A-C c.331T>G p.F111V Missense 3/102 - 1
6-90506059-A-C c.330-1539T>G - IntronicSNV - 2/101 1
6-90506059-A-AAAAC c.330-1540_330-1539insGTTT - IntronicInsertion - 2/101 1
6-90509846-GA-G c.329+3200del - IntronicDeletion - 2/101 1
6-90512592-T-A c.329+455A>T - IntronicSNV - 2/101 1
6-90513046-C-A c.329+1G>T - IntronicSNV - 2/101 1
6-90513047-G-T c.329C>A p.P110Q Missense 2/102 - 1
6-90513049-G-A c.327C>T p.L109= Synonymous 2/102 - 1
6-90513049-G-C c.327C>G p.L109= Synonymous 2/102 - 1
6-90513049-G-T c.327C>A p.L109= Synonymous 2/102 - 1
6-90513051-G-A c.325C>T p.L109F Missense 2/102 - 1
6-90513052-GAC-CAT c.322_324delinsATG p.V108M Missense 2/102 - 1
6-90513053-A-G c.323T>C p.V108A Missense 2/102 - 2
6-90513056-T-C c.320A>G p.D107G Missense 2/102 - 1
6-90513057-C-A c.319G>T p.D107Y Missense 2/102 - 1
6-90513059-G-A c.317C>T p.P106L Missense 2/102 - 2
6-90513062-T-C c.314A>G p.H105R Missense 2/102 - 1
6-90513063-G-A c.313C>T p.H105Y Missense 2/102 - 1
6-90513064-G-C c.312C>G p.N104K Missense 2/102 - 1
6-90513064-G-T c.312C>A p.N104K Missense 2/102 - 1
6-90513064-GT-G c.311del p.N104Tfs*10 Frameshift 2/102 - 1
6-90513066-T-A c.310A>T p.N104Y Missense 2/102 - 1
6-90513068-C-G c.308G>C p.G103A Missense 2/102 - 1
6-90513069-C-A c.307G>T p.G103C Missense 2/102 - 2
6-90513069-C-G c.307G>C p.G103R Missense 2/102 - 1
6-90513069-C-T c.307G>A p.G103S Missense 2/102 - 1
6-90513082-C-A c.294G>T p.M98I Missense 2/102 - 2
6-90513082-C-G c.294G>C p.M98I Missense 2/102 - 1
6-90513082-C-T c.294G>A p.M98I Missense 2/102 - 3
6-90513084-T-C c.292A>G p.M98V Missense 2/102 - 1
6-90513085-C-A c.291G>T p.S97= Synonymous 2/102 - 3
6-90513085-C-G c.291G>C p.S97= Synonymous 2/102 - 3
6-90513085-C-T c.291G>A p.S97= Synonymous 2/102 - 3
6-90513086-G-A c.290C>T p.S97L Missense 2/102 - 1
6-90513090-C-A c.286G>T p.V96L Missense 2/102 - 1
6-90513090-C-G c.286G>C p.V96L Missense 2/102 - 1
6-90513091-A-G c.285T>C p.C95= Synonymous 2/102 - 2
6-90513095-A-C c.281T>G p.L94R Missense 2/102 - 1
6-90513096-G-T c.280C>A p.L94I Missense 2/102 - 1
6-90513097-CC-AT c.278_279delinsAT p.R93H Missense 2/102 - 1
6-90513102-C-T c.274G>A p.E92K Missense 2/102 - 2
6-90513105-G-A c.271C>T p.H91Y Missense 2/102 - 3
6-90513110-T-G c.266A>C p.D89A Missense 2/102 - 3
6-90513112-A-G c.264T>C p.H88= Synonymous 2/102 - 1
6-90513118-G-C c.258C>G p.I86M Missense 2/102 - 1
6-90513119-A-C c.257T>G p.I86S Missense 2/102 - 1
6-90513120-T-C c.256A>G p.I86V Missense 2/102 - 1
6-90513123-G-A c.253C>T p.Q85* Nonsense 2/102 - 2
6-90513124-G-A c.252C>T p.G84= Synonymous 2/102 - 1
6-90513124-G-C c.252C>G p.G84= Synonymous 2/102 - 2
6-90513124-G-T c.252C>A p.G84= Synonymous 2/102 - 1
6-90513125-C-A c.251G>T p.G84V Missense 2/102 - 1
6-90513126-C-T c.250G>A p.G84S Missense 2/102 - 1
6-90513127-TCC-GCT c.247_249delinsAGC p.G83S Missense 2/102 - 1
6-90513129-C-G c.247G>C p.G83R Missense 2/102 - 1
6-90513129-C-T c.247G>A p.G83R Missense 2/102 - 1
6-90513130-A-T c.246T>A p.A82= Synonymous 2/102 - 2
6-90513131-G-A c.245C>T p.A82V Missense 2/102 - 1
6-90513133-T-A c.243A>T p.K81N Missense 2/102 - 1
6-90513133-T-C c.243A>G p.K81= Synonymous 2/102 - 2
6-90513133-T-G c.243A>C p.K81N Missense 2/102 - 2
6-90513134-T-G c.242A>C p.K81T Missense 2/102 - 1
6-90513139-G-A c.237C>T p.A79= Synonymous 2/102 - 1
6-90513139-G-C c.237C>G p.A79= Synonymous 2/102 - 1
6-90513139-G-T c.237C>A p.A79= Synonymous 2/102 - 1
6-90513140-GCTTCGGCATTCCTTTCCAGCAAAT-G c.212_235del p.D71_E78del InFrameDeletion 2/102 - 1
6-90513142-T-A c.234A>T p.E78D Missense 2/102 - 1
6-90513142-T-G c.234A>C p.E78D Missense 2/102 - 2
6-90513144-C-G c.232G>C p.E78Q Missense 2/102 - 1
6-90513145-G-A c.231C>T p.A77= Synonymous 2/102 - 2
6-90513145-G-C c.231C>G p.A77= Synonymous 2/102 - 2
6-90513145-G-T c.231C>A p.A77= Synonymous 2/102 - 2
6-90513147-C-T c.229G>A p.A77T Missense 2/102 - 1
6-90513150-T-G c.226A>C p.N76H Missense 2/102 - 1
6-90513151-C-A c.225G>T p.R75S Missense 2/102 - 1
6-90513151-C-G c.225G>C p.R75S Missense 2/102 - 1
6-90513153-T-A c.223A>T p.R75W Missense 2/102 - 1
6-90513153-T-C c.223A>G p.R75G Missense 2/102 - 1
6-90513154-T-A c.222A>T p.E74D Missense 2/102 - 1
6-90513154-T-G c.222A>C p.E74D Missense 2/102 - 1
6-90513155-T-C c.221A>G p.E74G Missense 2/102 - 2
6-90513156-C-G c.220G>C p.E74Q Missense 2/102 - 1
6-90513156-C-T c.220G>A p.E74K Missense 2/102 - 2
6-90513159-G-C c.217C>G p.L73V Missense 2/102 - 1
6-90513160-C-T c.216G>A p.L72= Synonymous 2/102 - 1
6-90513162-A-G c.214T>C p.L72= Synonymous 2/102 - 1
6-90513165-C-A c.211G>T p.D71Y Missense 2/102 - 1
6-90513165-C-T c.211G>A p.D71N Missense 2/102 - 1
6-90513172-G-A c.204C>T p.L68= Synonymous 2/102 - 2
6-90513172-G-C c.204C>G p.L68= Synonymous 2/102 - 1
6-90513172-G-T c.204C>A p.L68= Synonymous 2/102 - 1
6-90513174-G-C c.202C>G p.L68V Missense 2/102 - 3
6-90513176-G-A c.200C>T p.P67L Missense 2/102 - 1
6-90513176-G-T c.200C>A p.P67H Missense 2/102 - 1
6-90513177-G-T c.199C>A p.P67T Missense 2/102 - 1
6-90513178-GCG-CTT c.196_198delinsAAG p.R66K Missense 2/102 - 1
6-90513178-GC-TT c.197_198delinsAA p.R66Q Missense 2/102 - 1
6-90513179-C-G c.197G>C p.R66P Missense 2/102 - 1
6-90513179-C-T c.197G>A p.R66H Missense 2/102 - 3
6-90513180-G-A c.196C>T p.R66C Missense 2/102 - 2
6-90513188-C-T c.188G>A p.R63H Missense 2/102 - 2
6-90513189-G-A c.187C>T p.R63C Missense 2/102 - 4
6-90513191-C-G c.185G>C p.G62A Missense 2/102 - 1
6-90513192-C-T c.184G>A p.G62S Missense 2/102 - 2
6-90513194-A-G c.182T>C p.V61A Missense 2/102 - 1
6-90513195-C-T c.181G>A p.V61I Missense 2/102 - 1
6-90513196-CAG-AAA c.178_180delinsTTT p.L60F Missense 2/102 - 1
6-90513198-G-C c.178C>G p.L60V Missense 2/102 - 1
6-90513202-A-T c.174T>A p.T58= Synonymous 2/102 - 1
6-90513203-G-C c.173C>G p.T58S Missense 2/102 - 1
6-90513205-A-T c.171T>A p.C57* Nonsense 2/102 - 1
6-90513206-CA-GT c.169_170delinsAC p.C57T Missense 2/102 - 1
6-90513206-C-T c.170G>A p.C57Y Missense 2/102 - 1
6-90513207-A-G c.169T>C p.C57R Missense 2/102 - 1
6-90513206-CAGTCCTTATCCAAAAGCA-C c.152_169del p.L51_D56del InFrameDeletion 2/102 - 1
6-90513208-G-A c.168C>T p.D56= Synonymous 2/102 - 1
6-90513212-T-C c.164A>G p.K55R Missense 2/102 - 1
6-90513211-CT-C c.164del p.K55Rfs*44 Frameshift 2/102 - 2
6-90513214-A-C c.162T>G p.D54E Missense 2/102 - 2
6-90513214-A-G c.162T>C p.D54= Synonymous 2/102 - 1
6-90513214-A-T c.162T>A p.D54E Missense 2/102 - 2
6-90513216-C-T c.160G>A p.D54N Missense 2/102 - 2
6-90513218-A-G c.158T>C p.L53S Missense 2/102 - 1
6-90513220-A-C c.156T>G p.L52= Synonymous 2/102 - 1
6-90513220-A-G c.156T>C p.L52= Synonymous 2/102 - 1
6-90513220-A-T c.156T>A p.L52= Synonymous 2/102 - 1
6-90513221-A-T c.155T>A p.L52H Missense 2/102 - 1
6-90513228-G-T c.148C>A p.Q50K Missense 2/102 - 1
6-90513229-T-A c.147A>T p.A49= Synonymous 2/102 - 1
6-90513229-T-C c.147A>G p.A49= Synonymous 2/102 - 1
6-90513229-T-G c.147A>C p.A49= Synonymous 2/102 - 1
6-90513231-C-T c.145G>A p.A49T Missense 2/102 - 1
6-90513232-T-C c.144A>G p.L48= Synonymous 2/102 - 1
6-90513234-A-G c.142T>C p.L48= Synonymous 2/102 - 1
6-90513235-G-A c.141C>T p.T47= Synonymous 2/102 - 1
6-90513235-G-C c.141C>G p.T47= Synonymous 2/102 - 1
6-90513235-GG-CC c.140_141inv p.T47R Missense 2/102 - 1
6-90513235-G-T c.141C>A p.T47= Synonymous 2/102 - 1
6-90513236-G-C c.140C>G p.T47S Missense 2/102 - 1
6-90513236-GT-TC c.139_140delinsGA p.T47D Missense 2/102 - 5
6-90513237-T-C c.139A>G p.T47A Missense 2/102 - 1
6-90513239-C-G c.137G>C p.S46T Missense 2/102 - 1
6-90513240-T-C c.136A>G p.S46G Missense 2/102 - 1
6-90513246-C-G c.130G>C p.V44L Missense 2/102 - 1
6-90513247-A-G c.129T>C p.C43= Synonymous 2/102 - 1
6-90513254-C-T c.122G>A p.R41H Missense 2/102 - 2
6-90513255-G-A c.121C>T p.R41C Missense 2/102 - 2
6-90513255-G-C c.121C>G p.R41G Missense 2/102 - 1
6-90513256-A-G c.120T>C p.D40= Synonymous 2/102 - 1
6-90513257-T-C c.119A>G p.D40G Missense 2/102 - 1
6-90513258-C-T c.118G>A p.D40N Missense 2/102 - 1
6-90513261-G-A c.115C>T p.Q39* Nonsense 2/102 - 1
6-90513268-C-T c.108G>A p.W36* Nonsense 2/102 - 1
6-90516146-G-A c.103-2873C>T - IntronicSNV - 1/101 1
6-90518278-G-A c.103-5005C>T - IntronicSNV - 1/101 3
6-90519729-A-T c.103-6456T>A - IntronicSNV - 1/101 1
6-90524897-C-G c.102+4328G>C - IntronicSNV - 1/101 1
6-90524897-C-T c.102+4328G>A - IntronicSNV - 1/101 1
6-90525067-C-T c.102+4158G>A - IntronicSNV - 1/101 1
6-90525132-C-G c.102+4093G>C - IntronicSNV - 1/101 1
6-90525132-C-T c.102+4093G>A - IntronicSNV - 1/101 1
6-90528977-T-C c.102+248A>G - IntronicSNV - 1/101 1
6-90529053-A-G c.102+172T>C - IntronicSNV - 1/101 2
6-90529205-C-T c.102+20G>A - IntronicSNV - 1/101 1
6-90529226-T-A c.101A>T p.Q34L Missense 1/102 - 1
6-90529228-C-T c.99G>A p.K33= Synonymous 1/102 - 1
6-90529230-T-C c.97A>G p.K33E Missense 1/102 - 1
6-90529232-G-A c.95C>T p.A32V Missense 1/102 - 1
6-90529232-G-C c.95C>G p.A32G Missense 1/102 - 1
6-90529232-GC-AT c.94_95delinsAT p.A32I Missense 1/102 - 1
6-90529233-C-A c.94G>T p.A32S Missense 1/102 - 1
6-90529233-C-T c.94G>A p.A32T Missense 1/102 - 1
6-90529234-C-T c.93G>A p.L31= Synonymous 1/102 - 1
6-90529235-A-G c.92T>C p.L31S Missense 1/102 - 1
6-90529234-CA-C c.92del p.L31Wfs*15 Frameshift 1/102 - 1
6-90529240-CCT-ATG c.85_87delinsCAT p.R29H Missense 1/102 - 1
6-90529240-C-T c.87G>A p.R29= Synonymous 1/102 - 1
6-90529241-C-G c.86G>C p.R29T Missense 1/102 - 1
6-90529241-CT-GG c.85_86delinsCC p.R29P Missense 1/102 - 1
6-90529241-CT-TA c.85_86delinsTA p.R29* Nonsense 1/102 - 1
6-90529245-C-G c.82G>C p.G28R Missense 1/102 - 1
6-90529245-C-T c.82G>A p.G28S Missense 1/102 - 1
6-90529247-AA-GC c.79_80delinsGC p.L27A Missense 1/102 - 1
6-90529252-ACT-CCA c.73_75delinsTGG p.S25W Missense 1/102 - 1
6-90529253-C-T c.74G>A p.S25N Missense 1/102 - 1
6-90529254-T-A c.73A>T p.S25C Missense 1/102 - 1
6-90529256-C-A c.71G>T p.R24L Missense 1/102 - 1
6-90529256-C-G c.71G>C p.R24P Missense 1/102 - 1
6-90529256-C-T c.71G>A p.R24H Missense 1/102 - 1
6-90529258-G-A c.69C>T p.S23= Synonymous 1/102 - 1
6-90529259-C-T c.68G>A p.S23N Missense 1/102 - 2
6-90529261-C-T c.66G>A p.K22= Synonymous 1/102 - 1
6-90529263-T-C c.64A>G p.K22E Missense 1/102 - 1
6-90529266-C-A c.61G>T p.E21* Nonsense 1/102 - 4
6-90529266-C-G c.61G>C p.E21Q Missense 1/102 - 1
6-90529268-T-A c.59A>T p.N20I Missense 1/102 - 1
6-90529269-T-C c.58A>G p.N20D Missense 1/102 - 2
6-90529270-C-A c.57G>T p.K19N Missense 1/102 - 1
6-90529270-C-G c.57G>C p.K19N Missense 1/102 - 1
6-90529273-GGC-TTG c.52_54delinsCAA p.A18Q Missense 1/102 - 1
6-90529274-G-A c.53C>T p.A18V Missense 1/102 - 4
6-90529274-GC-AT c.52_53delinsAT p.A18I Missense 1/102 - 1
6-90529274-GC-TT c.52_53delinsAA p.A18N Missense 1/102 - 1
6-90529275-C-A c.52G>T p.A18S Missense 1/102 - 3
6-90529275-C-G c.52G>C p.A18P Missense 1/102 - 3
6-90529276-T-A c.51A>T p.A17= Synonymous 1/102 - 1
6-90529276-T-C c.51A>G p.A17= Synonymous 1/102 - 1
6-90529276-T-G c.51A>C p.A17= Synonymous 1/102 - 1
6-90529276-TGC-ACA c.49_51delinsTGT p.A17C Missense 1/102 - 1
6-90529276-TGC-ATA c.49_51delinsTAT p.A17Y Missense 1/102 - 2
6-90529276-TGC-CCA c.49_51delinsTGG p.A17W Missense 1/102 - 1
6-90529276-TGC-GTT c.49_51delinsAAC p.A17N Missense 1/102 - 1
6-90529276-TG-GT c.50_51delinsAC p.A17D Missense 1/102 - 2
6-90529277-G-A c.50C>T p.A17V Missense 1/102 - 3
6-90529277-G-C c.50C>G p.A17G Missense 1/102 - 1
6-90529277-GC-TA c.49_50delinsTA p.A17* Nonsense 1/102 - 2
6-90529277-GC-TG c.49_50delinsCA p.A17Q Missense 1/102 - 3
6-90529278-C-A c.49G>T p.A17S Missense 1/102 - 1
6-90529278-C-T c.49G>A p.A17T Missense 1/102 - 1
6-90529281-T-C c.46A>G p.I16V Missense 1/102 - 1
6-90529286-C-A c.41G>T p.R14L Missense 1/102 - 1
6-90529294-C-A c.33G>T p.A11= Synonymous 1/102 - 1
6-90529294-CGC-GTT c.31_33delinsAAC p.A11N Missense 1/102 - 2
6-90529295-GC-CT c.31_32delinsAG p.A11R Missense 1/102 - 1
6-90529295-G-T c.32C>A p.A11E Missense 1/102 - 4
6-90529296-C-G c.31G>C p.A11P Missense 1/102 - 1
6-90529297-GGC-CAT c.28_30delinsATG p.A10M Missense 1/102 - 2
6-90529298-G-C c.29C>G p.A10G Missense 1/102 - 2
6-90529298-GC-TA c.28_29delinsTA p.A10Y Missense 1/102 - 3
6-90529299-C-A c.28G>T p.A10S Missense 1/102 - 3
6-90529299-C-T c.28G>A p.A10T Missense 1/102 - 1
6-90529300-T-A c.27A>T p.A9= Synonymous 1/102 - 1
6-90529301-G-A c.26C>T p.A9V Missense 1/102 - 1
6-90529303-C-A c.24G>T p.V8= Synonymous 1/102 - 1
6-90529303-C-G c.24G>C p.V8= Synonymous 1/102 - 1
6-90529303-C-T c.24G>A p.V8= Synonymous 1/102 - 1
6-90529304-A-C c.23T>G p.V8G Missense 1/102 - 1
6-90529308-C-G c.19G>C p.E7Q Missense 1/102 - 1
6-90529309-C-A c.18G>T p.L6= Synonymous 1/102 - 1
6-90529312-C-A c.15G>T p.L5F Missense 1/102 - 1
6-90529312-C-G c.15G>C p.L5F Missense 1/102 - 1
6-90529312-C-T c.15G>A p.L5= Synonymous 1/102 - 1
6-90529314-A-G c.13T>C p.L5= Synonymous 1/102 - 1
6-90529318-G-A c.9C>T p.H3= Synonymous 1/102 - 1
6-90529320-G-A c.7C>T p.H3Y Missense 1/102 - 1
6-90529326-T-A c.1A>T p.M1? Missense 1/102 - 1
6-90529326-T-G c.1A>C p.M1? Missense 1/102 - 1
6-90529343-C-T c.-17G>A - 5-UTRSNV 1/102 - 6
6-90529458-C-A c.-132G>T - IntergenicSNV 1/102 - 1
6-90529458-C-T c.-132G>A - IntergenicSNV 1/102 - 1
6-90529473-G-A c.-147C>T - IntergenicSNV 1/102 - 1
6-90529481-C-A c.-155G>T - IntergenicSNV 1/102 - 1
6-90529481-C-T c.-155G>A - IntergenicSNV 1/102 - 1
6-90529508-G-A c.-182C>T - IntergenicSNV 1/102 - 1