TTN

TTN titin

Annotation transcript: NM_001267550.2

41588 unique variant annotations were identified in 4015 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
2-179391741-A-G c.107974T>C p.*35992Qext*27 Missense 363/363 - 1
2-179391750-G-A c.107965C>T p.R35989* Nonsense 363/363 - 3
2-179391754-A-G c.107961T>C p.H35987= Synonymous 363/363 - 1
2-179391757-T-C c.107958A>G p.I35986M Missense 363/363 - 1
2-179391764-A-T c.107951T>A p.V35984E Missense 363/363 - 1
2-179391773-G-C c.107942C>G p.S35981C Missense 363/363 - 1
2-179391777-C-A c.107938G>T p.D35980Y Missense 363/363 - 1
2-179391780-A-G c.107935T>C p.S35979P Missense 363/363 - 1
2-179391783-C-T c.107932G>A p.G35978R Missense 363/363 - 2
2-179391783-C-G c.107932G>C p.G35978R Missense 363/363 - 2
2-179391799-A-G c.107916T>C p.S35972= Synonymous 363/363 - 2
2-179391802-C-T c.107913G>A p.L35971= Synonymous 363/363 - 2
2-179391802-C-G c.107913G>C p.L35971= Synonymous 363/363 - 1
2-179391806-G-C c.107909C>G p.T35970S Missense 363/363 - 1
2-179391812-A-G c.107903T>C p.L35968P Missense 363/363 - 1
2-179391813-G-A c.107902C>T p.L35968F Missense 363/363 - 1
2-179391815-C-T c.107900G>A p.G35967E Missense 363/363 - 1
2-179391817-A-G c.107898T>C p.G35966= Synonymous 363/363 - 2
2-179391818-ACCATCT-A c.107892_107897del p.Q35964_G35966delinsH MultiAAMissense 363/363 - 1
2-179391822-C-T c.107893G>A p.D35965N Missense 363/363 - 1
2-179391825-G-A c.107890C>T p.Q35964* Nonsense 363/363 - 3
2-179391825-G-C c.107890C>G p.Q35964E Missense 363/363 - 1
2-179391825-GT-G c.107889del p.K35963Nfs*9 Frameshift 363/363 - 10
2-179391828-T-TA c.107886_107887insT p.K35963* Nonsense 363/363 - 1
2-179391834-C-T c.107881G>A p.V35961I Missense 363/363 - 1
2-179391841-G-A c.107874C>T p.I35958= Synonymous 363/363 - 1
2-179391848-A-G c.107867T>C p.L35956P Missense 363/363 - 3
2-179391851-G-T c.107864C>A p.T35955N Missense 363/363 - 2
2-179391853-T-G c.107862A>C p.T35954= Synonymous 363/363 - 1
2-179391860-T-C c.107855A>G p.D35952G Missense 363/363 - 1
2-179391862-A-T c.107853T>A p.D35951E Missense 363/363 - 1
2-179391863-T-C c.107852A>G p.D35951G Missense 363/363 - 1
2-179391865-CT-C c.107850del p.D35951Mfs*3 Frameshift 363/363 - 1
2-179391867-T-C c.107848A>G p.T35950A Missense 363/363 - 1
2-179391869-T-C c.107846A>G p.N35949S Missense 363/363 - 1
2-179391875-A-T c.107840T>A p.I35947N Missense 363/363 - 9
2-179391875-A-G c.107840T>C p.I35947T Missense 363/363 - 3
2-179391878-T-G c.107837A>C p.H35946P Missense 363/363 - 4
2-179391879-G-A c.107836C>T p.H35946Y Missense 363/363 - 1
2-179391883-C-T c.107832G>A p.R35944= Synonymous 363/363 - 1
2-179391886-C-T c.107829G>A p.G35943= Synonymous 363/363 - 1
2-179391889-C-T c.107826G>A p.Q35942= Synonymous 363/363 - 1
2-179391894-C-G c.107821G>C p.E35941Q Missense 363/363 - 1
2-179391899-C-G c.107816G>C p.S35939T Missense 363/363 - 2
2-179391901-G-T c.107814C>A p.H35938Q Missense 363/363 - 1
2-179391902-T-C c.107813A>G p.H35938R Missense 363/363 - 1
2-179391906-T-C c.107809A>G p.I35937V Missense 363/363 - 1
2-179391910-T-C c.107805A>G p.R35935= Synonymous 363/363 - 1
2-179391911-C-T c.107804G>A p.R35935K Missense 363/363 - 1
2-179391915-C-T c.107800G>A p.G35934R Missense 363/363 - 1
2-179391918-C-T c.107797G>A p.G35933S Missense 363/363 - 1
2-179391920-C-A c.107795G>T p.C35932F Missense 363/363 - 1
2-179391921-A-T c.107794T>A p.C35932S Missense 363/363 - 1
2-179391926-CA-TTCTCCTTTAC c.107788_107789delinsGTAAAGGAGAA p.W35930delinsVKEK MultiAAMissense 363/363 - 1
2-179391926-C-T c.107789G>A p.W35930* Nonsense 363/363 - 1
2-179391927-A-G c.107788T>C p.W35930R Missense 363/363 - 3
2-179391927-A-T c.107788T>A p.W35930R Missense 363/363 - 1
2-179391930-T-C c.107785A>G p.T35929A Missense 363/363 - 1
2-179391935-T-G c.107780A>C p.E35927A Missense 363/363 - 1
2-179391936-C-A c.107779G>T p.E35927* Nonsense 363/363 - 1
2-179391936-C-T c.107779G>A p.E35927K Missense 363/363 - 1
2-179391939-G-A c.107776C>T p.P35926S Missense 363/363 - 1
2-179391945-G-C c.107770C>G p.P35924A Missense 363/363 - 1
2-179391953-G-A c.107762C>T p.T35921M Missense 363/363 - 1
2-179391953-G-T c.107762C>A p.T35921K Missense 363/363 - 1
2-179391959-G-A c.107756C>T p.A35919V Missense 363/363 - 1
2-179391964-G-A c.107751C>T p.A35917= Synonymous 363/363 - 1
2-179391965-G-A c.107750C>T p.A35917V Missense 363/363 - 1
2-179391966-C-T c.107749G>A p.A35917T Missense 363/363 - 1
2-179391989-T-A c.107726A>T p.D35909V Missense 363/363 - 1
2-179391991-A-G c.107724T>C p.I35908= Synonymous 363/363 - 1
2-179391992-A-G c.107723T>C p.I35908T Missense 363/363 - 5
2-179391995-C-A c.107720G>T p.S35907I Missense 363/363 - 1
2-179391998-A-G c.107717T>C p.I35906T Missense 363/363 - 1
2-179392001-T-A c.107714A>T p.D35905V Missense 363/363 - 1
2-179392008-G-A c.107707C>T p.P35903S Missense 363/363 - 1
2-179392015-T-C c.107700A>G p.E35900= Synonymous 363/363 - 1
2-179392014-CT-C c.107700del p.A35901Lfs*14 Frameshift 363/363 - 1
2-179392017-C-T c.107698G>A p.E35900K Missense 363/363 - 1
2-179392019-A-G c.107696T>C p.I35899T Missense 363/363 - 2
2-179392023-T-A c.107692A>T p.K35898* Nonsense 363/363 - 1
2-179392026-G-A c.107689C>T p.P35897S Missense 363/363 - 1
2-179392028-G-A c.107687C>T p.P35896L Missense 363/363 - 7
2-179392034-C-T c.107681G>A p.G35894E Missense 363/363 - 2
2-179392175-C-G c.107678G>C p.R35893T Missense 362/363 - 1
2-179392191-G-T c.107662C>A p.L35888I Missense 362/363 - 1
2-179392192-C-T c.107661G>A p.M35887I Missense 362/363 - 1
2-179392196-T-C c.107657A>G p.K35886R Missense 362/363 - 1
2-179392202-G-A c.107651C>T p.T35884I Missense 362/363 - 1
2-179392206-GA-G c.107647del p.S35883Qfs*10 Frameshift 362/363 - 3
2-179392218-G-A c.107635C>T p.Q35879* Nonsense 362/363 - 5
2-179392223-A-G c.107630T>C p.M35877T Missense 362/363 - 1
2-179392236-C-T c.107617G>A p.G35873R Missense 362/363 - 2
2-179392236-C-G c.107617G>C p.G35873R Missense 362/363 - 1
2-179392250-G-A c.107603C>T p.S35868F Missense 362/363 - 1
2-179392258-T-G c.107595A>C p.E35865D Missense 362/363 - 1
2-179392260-C-T c.107593G>A p.E35865K Missense 362/363 - 1
2-179392260-C-A c.107593G>T p.E35865* Nonsense 362/363 - 1
2-179392264-A-C c.107589T>G p.F35863L Missense 362/363 - 1
2-179392268-G-A c.107585C>T p.S35862F Missense 362/363 - 1
2-179392275-G-A c.107578C>T p.Q35860* Nonsense 362/363 - 5
2-179392277-A-G c.107576T>C p.M35859T Missense 362/363 - 5
2-179392282-G-A c.107571C>T p.S35857= Synonymous 362/363 - 1
2-179392288-G-C c.107565C>G p.S35855R Missense 362/363 - 1
2-179392289-C-A c.107564G>T p.S35855I Missense 362/363 - 2
2-179392293-G-C c.107560C>G p.Q35854E Missense 362/363 - 1
2-179392302-T-G c.107551A>C p.M35851L Missense 362/363 - 1
2-179392302-T-A c.107551A>T p.M35851L Missense 362/363 - 1
2-179392307-G-T c.107546C>A p.A35849E Missense 362/363 - 1
2-179392308-GC-G c.107545del p.A35849Qfs*16 Frameshift 362/363 - 1
2-179392320-C-A c.107533G>T p.E35845* Nonsense 362/363 - 1
2-179392320-C-T c.107533G>A p.E35845K Missense 362/363 - 1
2-179392326-T-G c.107527A>C p.M35843L Missense 362/363 - 2
2-179392326-T-A c.107527A>T p.M35843L Missense 362/363 - 2
2-179392332-T-G c.107521A>C p.S35841R Missense 362/363 - 1
2-179392336-A-C c.107517T>G p.S35839R Missense 362/363 - 3
2-179392349-A-G c.107504T>C p.F35835S Missense 362/363 - 1
2-179392357-GA-G c.107495del p.F35832Sfs*12 Frameshift 362/363 - 1
2-179392363-G-T c.107490C>A p.A35830= Synonymous 362/363 - 1
2-179392365-GCCTCCTGCTTGGAGGCAGACATTTGGACTGACTGAGACGAGAAGCTTCCTTGCAAGCTT-G c.107430_107488del p.S35811Lfs*11 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 362/363 - 2
2-179392370-T-C c.107483A>G p.Q35828R Missense 362/363 - 1
2-179392392-C-A c.107461G>T p.V35821F Missense 362/363 - 1
2-179392403-G-A c.107450C>T p.S35817L Missense 362/363 - 4
2-179392404-A-G c.107449T>C p.S35817P Missense 362/363 - 1
2-179392406-A-T c.107447T>A p.F35816Y Missense 362/363 - 1
2-179392409-C-A c.107444G>T p.S35815I Missense 362/363 - 1
2-179392413-C-T c.107440G>A p.G35814R Missense 362/363 - 1
2-179392422-T-A c.107431A>T p.S35811C Missense 362/363 - 1
2-179392433-C-G c.107420G>C p.S35807T Missense 362/363 - 1
2-179392439-C-G c.107414G>C p.R35805T Missense 362/363 - 1
2-179392448-A-C c.107405T>G p.V35802G Missense 362/363 - 1
2-179392451-T-C c.107402A>G p.E35801G Missense 362/363 - 2
2-179392455-T-TG c.107397dup p.R35800Qfs*10 Frameshift 362/363 - 1
2-179392458-A-C c.107395T>G p.S35799A Missense 362/363 - 1
2-179392460-G-A c.107393C>T p.P35798L Missense 362/363 - 1
2-179392461-G-T c.107392C>A p.P35798T Missense 362/363 - 1
2-179392461-G-A c.107392C>T p.P35798S Missense 362/363 - 1
2-179392464-C-G c.107389G>C p.E35797Q Missense 362/363 - 1
2-179392469-A-G c.107384T>C p.V35795A Missense 362/363 - 1
2-179392470-C-A c.107383G>T p.V35795F Missense 362/363 - 1
2-179392471-CT-C c.107382del p.V35795Lfs*8 Frameshift 362/363 - 1
2-179392875-G-A c.107377+126C>T - IntronicSNV - 361/362 1
2-179393000-C-T c.107377+1G>A - IntronicSNV - 361/362 7
2-179393001-G-A c.107377C>T p.P35793S Missense 361/363 - 3
2-179393009-A-C c.107369T>G p.M35790R Missense 361/363 - 1
2-179393015-G-A c.107363C>T p.S35788F Missense 361/363 - 1
2-179393021-G-A c.107357C>T p.T35786I Missense 361/363 - 1
2-179393039-C-T c.107339G>A p.R35780H Missense 361/363 - 1
2-179393041-G-A c.107337C>T p.F35779= Synonymous 361/363 - 1
2-179393045-T-G c.107333A>C p.N35778T Missense 361/363 - 1
2-179393051-G-C c.107327C>G p.A35776G Missense 361/363 - 1
2-179393052-C-T c.107326G>A p.A35776T Missense 361/363 - 1
2-179393058-T-C c.107320A>G p.I35774V Missense 361/363 - 1
2-179393064-TAC-T c.107313_107314del p.Y35772Hfs*3 Frameshift 361/363 - 1
2-179393070-C-T c.107308G>A p.G35770R Missense 361/363 - 1
2-179393070-C-G c.107308G>C p.G35770R Missense 361/363 - 1
2-179393072-C-G c.107306G>C p.S35769T Missense 361/363 - 1
2-179393076-C-T c.107302G>A p.D35768N Missense 361/363 - 3
2-179393078-C-T c.107300G>A p.S35767N Missense 361/363 - 1
2-179393088-C-A c.107290G>T p.A35764S Missense 361/363 - 1
2-179393093-C-T c.107285G>A p.R35762Q Missense 361/363 - 1
2-179393094-G-A c.107284C>T p.R35762* Nonsense 361/363 - 5
2-179393103-G-A c.107275C>T p.L35759F Missense 361/363 - 1
2-179393104-G-A c.107274C>T p.S35758= Synonymous 361/363 - 1
2-179393108-T-C c.107270A>G p.Y35757C Missense 361/363 - 2
2-179393110-T-G c.107268A>C p.V35756= Synonymous 361/363 - 1
2-179393110-T-C c.107268A>G p.V35756= Synonymous 361/363 - 2
2-179393110-T-A c.107268A>T p.V35756= Synonymous 361/363 - 1
2-179393111-A-G c.107267T>C p.V35756A Missense 361/363 - 11
2-179393112-C-T c.107266G>A p.V35756I Missense 361/363 - 1
2-179393113-A-G c.107265T>C p.N35755= Synonymous 361/363 - 1
2-179393123-C-T c.107255G>A p.R35752H Missense 361/363 - 4
2-179393144-G-T c.107234C>A p.S35745Y Missense 361/363 - 2
2-179393145-A-G c.107233T>C p.S35745P Missense 361/363 - 1
2-179393145-A-C c.107233T>G p.S35745A Missense 361/363 - 1
2-179393145-A-T c.107233T>A p.S35745T Missense 361/363 - 1
2-179393148-T-C c.107230A>G p.I35744V Missense 361/363 - 1
2-179393150-G-T c.107228C>A p.S35743Y Missense 361/363 - 2
2-179393150-G-A c.107228C>T p.S35743F Missense 361/363 - 1
2-179393250-CTTACTGGCAGGTTGTTTTTAAACCATTCGA-C c.107198_107223+4del - SpliceDonorDeletion 360/363 360/362 1
2-179393257-G-T c.107221C>A p.P35741T Missense 360/363 - 1
2-179393262-T-G c.107216A>C p.N35739T Missense 360/363 - 1
2-179393276-T-C c.107202A>G p.E35734= Synonymous 360/363 - 1
2-179393278-C-T c.107200G>A p.E35734K Missense 360/363 - 1
2-179393284-C-T c.107194G>A p.E35732K Missense 360/363 - 1
2-179393286-G-A c.107192C>T p.P35731L Missense 360/363 - 1
2-179393287-G-T c.107191C>A p.P35731T Missense 360/363 - 1
2-179393296-C-T c.107182G>A p.E35728K Missense 360/363 - 1
2-179393297-G-A c.107181C>T p.G35727= Synonymous 360/363 - 1
2-179393297-G-C c.107181C>G p.G35727= Synonymous 360/363 - 1
2-179393297-G-T c.107181C>A p.G35727= Synonymous 360/363 - 1
2-179393301-C-T c.107177G>A p.S35726N Missense 360/363 - 2
2-179393311-A-T c.107167T>A p.C35723S Missense 360/363 - 2
2-179393310-C-G c.107168G>C p.C35723S Missense 360/363 - 2
2-179393310-CAAGTA-C c.107163_107167del p.F35721Lfs*2 Frameshift 360/363 - 3
2-179393317-A-G c.107161T>C p.F35721L Missense 360/363 - 1
2-179393320-G-T c.107158C>A p.L35720I Missense 360/363 - 1
2-179393323-C-T c.107155G>A p.V35719I Missense 360/363 - 1
2-179393337-T-A c.107141A>T p.N35714I Missense 360/363 - 1
2-179393344-T-TA c.107133_107134insT p.N35712* Nonsense 360/363 - 2
2-179393344-T-G c.107134A>C p.N35712H Missense 360/363 - 2
2-179393347-G-A c.107131C>T p.Q35711* Nonsense 360/363 - 1
2-179393355-G-A c.107123C>T p.P35708L Missense 360/363 - 1
2-179393359-G-T c.107119C>A p.Q35707K Missense 360/363 - 1
2-179393367-A-T c.107111T>A p.F35704Y Missense 360/363 - 1
2-179393367-A-G c.107111T>C p.F35704S Missense 360/363 - 1
2-179393370-G-A c.107108C>T p.A35703V Missense 360/363 - 1
2-179393370-G-C c.107108C>G p.A35703G Missense 360/363 - 1
2-179393373-G-A c.107105C>T p.P35702L Missense 360/363 - 1
2-179393374-G-A c.107104C>T p.P35702S Missense 360/363 - 1
2-179393374-G-T c.107104C>A p.P35702T Missense 360/363 - 1
2-179393380-C-T c.107098G>A p.D35700N Missense 360/363 - 1
2-179393385-A-G c.107093T>C p.L35698P Missense 360/363 - 2
2-179393386-G-A c.107092C>T p.L35698F Missense 360/363 - 1
2-179393389-C-G c.107089G>C p.E35697Q Missense 360/363 - 2
2-179393395-T-C c.107083A>G p.S35695G Missense 360/363 - 1
2-179393397-A-G c.107081T>C p.L35694P Missense 360/363 - 1
2-179393398-G-T c.107080C>A p.L35694M Missense 360/363 - 1
2-179393398-G-C c.107080C>G p.L35694V Missense 360/363 - 2
2-179393401-T-G c.107077A>C p.T35693P Missense 360/363 - 1
2-179393412-T-C c.107066A>G p.Q35689R Missense 360/363 - 2
2-179393416-A-T c.107062T>A p.C35688S Missense 360/363 - 1
2-179393421-A-G c.107057T>C p.V35686A Missense 360/363 - 1
2-179393422-C-T c.107056G>A p.V35686I Missense 360/363 - 1
2-179393423-G-T c.107055C>A p.I35685= Synonymous 360/363 - 1
2-179393423-G-A c.107055C>T p.I35685= Synonymous 360/363 - 1
2-179393428-C-T c.107050G>A p.G35684R Missense 360/363 - 1
2-179393429-T-G c.107049A>C p.E35683D Missense 360/363 - 1
2-179393439-T-C c.107039A>G p.K35680R Missense 360/363 - 1
2-179393456-G-T c.107022C>A p.I35674= Synonymous 360/363 - 1
2-179393456-G-A c.107022C>T p.I35674= Synonymous 360/363 - 1
2-179393467-C-T c.107011G>A p.D35671N Missense 360/363 - 1
2-179393467-C-A c.107011G>T p.D35671Y Missense 360/363 - 1
2-179393469-C-G c.107009G>C p.R35670T Missense 360/363 - 1
2-179393476-T-G c.107002A>C p.S35668R Missense 360/363 - 1
2-179393478-G-A c.107000C>T p.A35667V Missense 360/363 - 1
2-179393482-G-T c.106996C>A p.Q35666K Missense 360/363 - 1
2-179393482-G-C c.106996C>G p.Q35666E Missense 360/363 - 1
2-179393488-T-A c.106990A>T p.I35664F Missense 360/363 - 1
2-179393488-T-C c.106990A>G p.I35664V Missense 360/363 - 1
2-179393499-T-A c.106979A>T p.Q35660L Missense 360/363 - 1
2-179393499-T-C c.106979A>G p.Q35660R Missense 360/363 - 1
2-179393500-G-A c.106978C>T p.Q35660* Nonsense 360/363 - 2
2-179393503-C-T c.106975G>A p.D35659N Missense 360/363 - 1
2-179393508-C-T c.106970G>A p.G35657D Missense 360/363 - 1
2-179393509-C-G c.106969G>C p.G35657R Missense 360/363 - 1
2-179393512-A-T c.106966T>A p.S35656T Missense 360/363 - 1
2-179393519-A-T c.106959T>A p.Y35653* Nonsense 360/363 - 2
2-179393519-A-C c.106959T>G p.Y35653* Nonsense 360/363 - 1
2-179393521-A-C c.106957T>G p.Y35653D Missense 360/363 - 1
2-179393523-C-T c.106955G>A p.R35652Q Missense 360/363 - 3
2-179393524-G-A c.106954C>T p.R35652* Nonsense 360/363 - 3
2-179393524-G-C c.106954C>G p.R35652G Missense 360/363 - 2
2-179393525-G-T c.106953C>A p.Y35651* Nonsense 360/363 - 1
2-179393525-G-C c.106953C>G p.Y35651* Nonsense 360/363 - 2
2-179393530-C-G c.106948G>C p.E35650Q Missense 360/363 - 1
2-179393539-T-C c.106939A>G p.N35647D Missense 360/363 - 1
2-179393548-C-A c.106930G>T p.E35644* Nonsense 360/363 - 1
2-179393550-A-T c.106928T>A p.V35643E Missense 360/363 - 1
2-179393551-C-T c.106927G>A p.V35643I Missense 360/363 - 3
2-179393552-G-A c.106926C>T p.G35642= Synonymous 360/363 - 2
2-179393552-G-C c.106926C>G p.G35642= Synonymous 360/363 - 1
2-179393552-G-T c.106926C>A p.G35642= Synonymous 360/363 - 1
2-179393558-C-T c.106920G>A p.L35640= Synonymous 360/363 - 1
2-179393559-A-C c.106919T>G p.L35640R Missense 360/363 - 1
2-179393563-C-T c.106915G>A p.V35639I Missense 360/363 - 1
2-179393563-C-G c.106915G>C p.V35639L Missense 360/363 - 1
2-179393564-C-G c.106914G>C p.W35638C Missense 360/363 - 1
2-179393580-G-A c.106898C>T p.A35633V Missense 360/363 - 1
2-179393584-C-T c.106894G>A p.G35632S Missense 360/363 - 6
2-179393595-G-A c.106883C>T p.A35628V Missense 360/363 - 1
2-179393610-C-A c.106868G>T p.R35623I Missense 360/363 - 1
2-179393612-T-A c.106866A>T p.Q35622H Missense 360/363 - 1
2-179393612-T-G c.106866A>C p.Q35622H Missense 360/363 - 1
2-179393620-C-T c.106858G>A p.E35620K Missense 360/363 - 2
2-179393621-G-A c.106857C>T p.N35619= Synonymous 360/363 - 1
2-179393630-C-G c.106848G>C p.M35616I Missense 360/363 - 2
2-179393630-C-T c.106848G>A p.M35616I Missense 360/363 - 2
2-179393630-C-A c.106848G>T p.M35616I Missense 360/363 - 2
2-179393640-G-C c.106838C>G p.S35613C Missense 360/363 - 1
2-179393641-A-C c.106837T>G p.S35613A Missense 360/363 - 2
2-179393647-C-G c.106831G>C p.A35611P Missense 360/363 - 1
2-179393651-A-C c.106827T>G p.I35609M Missense 360/363 - 1
2-179393661-T-G c.106817A>C p.H35606P Missense 360/363 - 1
2-179393677-C-CA c.106800_106801insT p.E35601* Nonsense 360/363 - 1
2-179393684-C-A c.106794G>T p.Q35598H Missense 360/363 - 1
2-179393684-C-G c.106794G>C p.Q35598H Missense 360/363 - 1
2-179393685-T-G c.106793A>C p.Q35598P Missense 360/363 - 1
2-179393686-G-A c.106792C>T p.Q35598* Nonsense 360/363 - 1
2-179393691-G-A c.106787C>T p.T35596I Missense 360/363 - 6
2-179393694-T-A c.106784A>T p.K35595I Missense 360/363 - 1
2-179393695-T-C c.106783A>G p.K35595E Missense 360/363 - 1
2-179393703-T-G c.106775A>C p.E35592A Missense 360/363 - 1
2-179393708-A-T c.106770T>A p.H35590Q Missense 360/363 - 1
2-179393708-A-C c.106770T>G p.H35590Q Missense 360/363 - 1
2-179393713-C-T c.106765G>A p.V35589I Missense 360/363 - 1
2-179393713-C-A c.106765G>T p.V35589F Missense 360/363 - 1
2-179393718-G-A c.106760C>T p.S35587F Missense 360/363 - 1
2-179393724-T-G c.106754A>C p.E35585A Missense 360/363 - 1
2-179393725-C-T c.106753G>A p.E35585K Missense 360/363 - 2
2-179393730-G-A c.106748C>T p.S35583F Missense 360/363 - 1
2-179393733-G-T c.106745C>A p.T35582N Missense 360/363 - 1
2-179393738-CT-C c.106740del p.A35581Qfs*36 Frameshift 360/363 - 1
2-179393739-G-A c.106739C>T p.A35580V Missense 360/363 - 1
2-179393752-C-T c.106726G>A p.V35576I Missense 360/363 - 1
2-179393758-C-T c.106720G>A p.E35574K Missense 360/363 - 1
2-179393770-C-A c.106708G>T p.V35570F Missense 360/363 - 1
2-179393771-C-T c.106707G>A p.K35569= Synonymous 360/363 - 1
2-179393775-G-A c.106703C>T p.S35568L Missense 360/363 - 1
2-179393787-T-C c.106691A>G p.K35564R Missense 360/363 - 1
2-179393791-G-A c.106687C>T p.L35563F Missense 360/363 - 1
2-179393794-C-A c.106684G>T p.A35562S Missense 360/363 - 1
2-179393797-A-T c.106681T>A p.L35561I Missense 360/363 - 1
2-179393798-C-G c.106680G>C p.K35560N Missense 360/363 - 2
2-179393799-T-G c.106679A>C p.K35560T Missense 360/363 - 1
2-179393803-C-G c.106675G>C p.E35559Q Missense 360/363 - 2
2-179393809-AT-A c.106668del p.K35556Nfs*6 Frameshift 360/363 - 3
2-179393830-T-C c.106648A>G p.I35550V Missense 360/363 - 1
2-179393833-C-A c.106645G>T p.E35549* Nonsense 360/363 - 1
2-179393835-T-A c.106643A>T p.E35548V Missense 360/363 - 1
2-179393839-A-T c.106639T>A p.S35547T Missense 360/363 - 1
2-179393840-C-T c.106638G>A p.R35546= Synonymous 360/363 - 2
2-179393840-C-G c.106638G>C p.R35546S Missense 360/363 - 1
2-179393841-C-T c.106637G>A p.R35546K Missense 360/363 - 1
2-179393846-G-A c.106632C>T p.A35544= Synonymous 360/363 - 1
2-179393850-T-A c.106628A>T p.K35543I Missense 360/363 - 1
2-179393848-CT-C c.106629del p.A35544Pfs*2 Frameshift 360/363 - 3
2-179393858-A-G c.106620T>C p.I35540= Synonymous 360/363 - 1
2-179393858-A-T c.106620T>A p.I35540= Synonymous 360/363 - 1
2-179393859-A-G c.106619T>C p.I35540T Missense 360/363 - 5
2-179393861-T-G c.106617A>C p.E35539D Missense 360/363 - 1
2-179393861-T-A c.106617A>T p.E35539D Missense 360/363 - 1
2-179393864-C-A c.106614G>T p.E35538D Missense 360/363 - 1
2-179393869-G-A c.106609C>T p.Q35537* Nonsense 360/363 - 1
2-179393877-G-A c.106601C>T p.A35534V Missense 360/363 - 1
2-179393886-T-C c.106592A>G p.Q35531R Missense 360/363 - 1
2-179393892-G-A c.106586C>T p.T35529I Missense 360/363 - 1
2-179393898-T-A c.106580A>T p.E35527V Missense 360/363 - 3
2-179393900-A-T c.106578T>A p.S35526= Synonymous 360/363 - 2
2-179393901-G-A c.106577C>T p.S35526F Missense 360/363 - 1
2-179393906-C-G c.106572G>C p.K35524N Missense 360/363 - 1
2-179393906-C-A c.106572G>T p.K35524N Missense 360/363 - 1
2-179393909-T-A c.106569A>T p.Q35523H Missense 360/363 - 1
2-179393909-T-G c.106569A>C p.Q35523H Missense 360/363 - 1
2-179393906-CT-C c.106571del p.K35524Rfs*22 Frameshift 360/363 - 2
2-179393935-T-C c.106543A>G p.T35515A Missense 360/363 - 1
2-179393938-C-A c.106540G>T p.D35514Y Missense 360/363 - 1
2-179393940-T-C c.106538A>G p.K35513R Missense 360/363 - 1
2-179394653-G-A c.106531+34C>T - IntronicSNV - 359/362 1
2-179394685-A-T c.106531+2T>A - IntronicSNV - 359/362 1
2-179394686-C-T c.106531+1G>A - IntronicSNV - 359/362 3
2-179394687-C-G c.106531G>C p.A35511P Missense 359/363 - 1
2-179394690-T-G c.106528A>C p.K35510Q Missense 359/363 - 1
2-179394692-A-G c.106526T>C p.I35509T Missense 359/363 - 1
2-179394719-G-A c.106499C>T p.S35500F Missense 359/363 - 1
2-179394723-C-A c.106495G>T p.G35499* Nonsense 359/363 - 1
2-179394729-A-C c.106489T>G p.S35497A Missense 359/363 - 1
2-179394742-A-G c.106476T>C p.C35492= Synonymous 359/363 - 1
2-179394746-G-A c.106472C>T p.T35491I Missense 359/363 - 1
2-179394757-A-T c.106461T>A p.S35487R Missense 359/363 - 1
2-179394767-G-T c.106451C>A p.T35484N Missense 359/363 - 1
2-179394771-C-T c.106447G>A p.D35483N Missense 359/363 - 1
2-179394774-T-C c.106444A>G p.T35482A Missense 359/363 - 1
2-179394776-T-C c.106442A>G p.K35481R Missense 359/363 - 1
2-179394786-C-A c.106432G>T p.E35478* Nonsense 359/363 - 2
2-179394787-TAAG-T c.106428_106430del p.F35476del InFrameDeletion 359/363 - 1
2-179394795-A-T c.106423T>A p.F35475I Missense 359/363 - 1
2-179394793-G-T c.106425C>A p.F35475L Missense 359/363 - 1
2-179394795-AC-A c.106422del p.F35475Sfs*3 Frameshift 359/363 - 1
2-179394800-C-T c.106418G>A p.G35473E Missense 359/363 - 1
2-179394806-T-C c.106412A>G p.D35471G Missense 359/363 - 3
2-179394809-T-A c.106409A>T p.E35470V Missense 359/363 - 1
2-179394810-TCA-T c.106407_106408del p.E35470Rfs*11 Frameshift 359/363 - 1
2-179394812-G-A c.106406C>T p.S35469F Missense 359/363 - 1
2-179394810-CAG-C c.106406_106407del p.S35469* Frameshift 359/363 - 2
2-179394830-C-G c.106388G>C p.G35463A Missense 359/363 - 2
2-179394837-T-C c.106381A>G p.T35461A Missense 359/363 - 1
2-179394910-ATTTAGAAGATAAAATAT-A c.106374+41_106374+57del - IntronicDeletion - 358/362 1
2-179394966-AC-A c.106374+1del - IntronicDeletion 358/363 - 1
2-179394974-A-G c.106368T>C p.D35456= Synonymous 358/363 - 1
2-179394984-C-T c.106358G>A p.W35453* Nonsense 358/363 - 1
2-179394983-C-T c.106359G>A p.W35453* Nonsense 358/363 - 1
2-179394990-G-A c.106352C>T p.A35451V Missense 358/363 - 1
2-179394990-G-C c.106352C>G p.A35451G Missense 358/363 - 1
2-179394993-G-C c.106349C>G p.T35450S Missense 358/363 - 1
2-179395000-G-A c.106342C>T p.R35448W Missense 358/363 - 1
2-179395002-G-C c.106340C>G p.P35447R Missense 358/363 - 1
2-179395005-T-A c.106337A>T p.E35446V Missense 358/363 - 1
2-179395008-C-T c.106334G>A p.G35445E Missense 358/363 - 1
2-179395011-G-A c.106331C>T p.T35444I Missense 358/363 - 1
2-179395042-C-G c.106300G>C p.D35434H Missense 358/363 - 1
2-179395047-G-T c.106295C>A p.S35432Y Missense 358/363 - 1
2-179395050-A-G c.106292T>C p.V35431A Missense 358/363 - 1
2-179395051-C-T c.106291G>A p.V35431I Missense 358/363 - 2
2-179395056-G-T c.106286C>A p.T35429K Missense 358/363 - 1
2-179395060-C-T c.106282G>A p.D35428N Missense 358/363 - 1
2-179395060-C-G c.106282G>C p.D35428H Missense 358/363 - 1
2-179395063-G-A c.106279C>T p.Q35427* Nonsense 358/363 - 1
2-179395067-C-G c.106275G>C p.G35425= Synonymous 358/363 - 4
2-179395074-A-G c.106268T>C p.V35423A Missense 358/363 - 1
2-179395084-G-A c.106258C>T p.P35420S Missense 358/363 - 3
2-179395089-G-C c.106253C>G p.S35418* Nonsense 358/363 - 1
2-179395093-A-G c.106249T>C p.S35417P Missense 358/363 - 1
2-179395102-C-G c.106240G>C p.E35414Q Missense 358/363 - 2
2-179395108-C-T c.106234G>A p.A35412T Missense 358/363 - 1
2-179395108-CT-C c.106233del p.A35412Lfs*10 Frameshift 358/363 - 1
2-179395122-T-C c.106220A>G p.K35407R Missense 358/363 - 1
2-179395125-C-G c.106217G>C p.R35406T Missense 358/363 - 1
2-179395137-G-T c.106205C>A p.S35402* Nonsense 358/363 - 1
2-179395137-G-C c.106205C>G p.S35402* Nonsense 358/363 - 1
2-179395141-C-T c.106201G>A p.E35401K Missense 358/363 - 1
2-179395145-G-A c.106197C>T p.T35399= Synonymous 358/363 - 1
2-179395147-T-G c.106195A>C p.T35399P Missense 358/363 - 1
2-179395158-G-A c.106184C>T p.S35395L Missense 358/363 - 1
2-179395160-T-G c.106182A>C p.K35394N Missense 358/363 - 1
2-179395160-T-A c.106182A>T p.K35394N Missense 358/363 - 1
2-179395162-T-G c.106180A>C p.K35394Q Missense 358/363 - 1
2-179395173-G-A c.106169C>T p.S35390L Missense 358/363 - 1
2-179395179-T-A c.106163A>T p.K35388I Missense 358/363 - 1
2-179395182-G-T c.106160C>A p.S35387* Nonsense 358/363 - 1
2-179395182-G-C c.106160C>G p.S35387* Nonsense 358/363 - 1
2-179395182-G-A c.106160C>T p.S35387L Missense 358/363 - 1
2-179395186-C-T c.106156G>A p.V35386I Missense 358/363 - 1
2-179395186-C-A c.106156G>T p.V35386L Missense 358/363 - 1
2-179395188-T-G c.106154A>C p.K35385T Missense 358/363 - 4
2-179395202-C-CT c.106139dup p.S35381Efs*4 Frameshift 358/363 - 2
2-179395204-T-TA c.106137dup p.K35380* Nonsense 358/363 - 1
2-179395209-G-T c.106133C>A p.A35378D Missense 358/363 - 1
2-179395209-G-A c.106133C>T p.A35378V Missense 358/363 - 1
2-179395213-G-T c.106129C>A p.Q35377K Missense 358/363 - 1
2-179395215-C-G c.106127G>C p.G35376A Missense 358/363 - 1
2-179395217-C-G c.106125G>C p.M35375I Missense 358/363 - 1
2-179395217-C-T c.106125G>A p.M35375I Missense 358/363 - 1
2-179395217-C-A c.106125G>T p.M35375I Missense 358/363 - 1
2-179395221-A-T c.106121T>A p.F35374Y Missense 358/363 - 1
2-179395222-A-T c.106120T>A p.F35374I Missense 358/363 - 1
2-179395225-G-A c.106117C>T p.Q35373* Nonsense 358/363 - 1
2-179395234-T-C c.106108A>G p.T35370A Missense 358/363 - 1
2-179395242-G-A c.106100C>T p.T35367M Missense 358/363 - 4
2-179395245-C-A c.106097G>T p.G35366V Missense 358/363 - 1
2-179395246-C-T c.106096G>A p.G35366R Missense 358/363 - 1
2-179395251-T-C c.106091A>G p.E35364G Missense 358/363 - 1
2-179395255-C-G c.106087G>C p.G35363R Missense 358/363 - 1
2-179395257-G-C c.106085C>G p.S35362C Missense 358/363 - 1
2-179395261-T-A c.106081A>T p.I35361F Missense 358/363 - 1
2-179395268-A-T c.106074T>A p.V35358= Synonymous 358/363 - 1
2-179395268-A-G c.106074T>C p.V35358= Synonymous 358/363 - 1
2-179395268-A-C c.106074T>G p.V35358= Synonymous 358/363 - 1
2-179395269-A-T c.106073T>A p.V35358D Missense 358/363 - 1
2-179395276-C-A c.106066G>T p.E35356* Nonsense 358/363 - 1
2-179395276-C-T c.106066G>A p.E35356K Missense 358/363 - 1
2-179395279-C-A c.106063G>T p.G35355* Nonsense 358/363 - 1
2-179395285-C-G c.106057G>C p.D35353H Missense 358/363 - 1
2-179395285-C-T c.106057G>A p.D35353N Missense 358/363 - 1
2-179395287-G-C c.106055C>G p.S35352C Missense 358/363 - 1
2-179395290-T-A c.106052A>T p.E35351V Missense 358/363 - 1
2-179395299-T-G c.106043A>C p.N35348T Missense 358/363 - 1
2-179395322-AC-A c.106019del p.G35340Vfs*65 Frameshift 358/363 - 2
2-179395327-C-T c.106015G>A p.D35339N Missense 358/363 - 1
2-179395332-G-T c.106010C>A p.S35337* Nonsense 358/363 - 2
2-179395332-G-C c.106010C>G p.S35337* Nonsense 358/363 - 1
2-179395337-A-C c.106005T>G p.H35335Q Missense 358/363 - 1
2-179395338-T-A c.106004A>T p.H35335L Missense 358/363 - 1
2-179395348-A-C c.105994T>G p.F35332V Missense 358/363 - 1
2-179395351-G-T c.105991C>A p.H35331N Missense 358/363 - 1
2-179395360-C-T c.105982G>A p.E35328K Missense 358/363 - 2
2-179395364-C-G c.105978G>C p.L35326= Synonymous 358/363 - 1
2-179395367-T-G c.105975A>C p.K35325N Missense 358/363 - 1
2-179395368-T-G c.105974A>C p.K35325T Missense 358/363 - 1
2-179395369-T-C c.105973A>G p.K35325E Missense 358/363 - 1
2-179395375-C-T c.105967G>A p.G35323S Missense 358/363 - 1
2-179395390-T-C c.105952A>G p.T35318A Missense 358/363 - 1
2-179395396-C-A c.105946G>T p.E35316* Nonsense 358/363 - 1
2-179395396-CT-C c.105945del p.E35316Rfs*11 Frameshift 358/363 - 1
2-179395402-C-T c.105940G>A p.A35314T Missense 358/363 - 2
2-179395403-C-A c.105939G>T p.R35313S Missense 358/363 - 1
2-179395405-T-A c.105937A>T p.R35313W Missense 358/363 - 1
2-179395407-A-C c.105935T>G p.L35312* Nonsense 358/363 - 2
2-179395410-A-G c.105932T>C p.V35311A Missense 358/363 - 1
2-179395413-C-G c.105929G>C p.S35310T Missense 358/363 - 1
2-179395417-T-G c.105925A>C p.S35309R Missense 358/363 - 1
2-179395416-C-T c.105926G>A p.S35309N Missense 358/363 - 1
2-179395419-T-G c.105923A>C p.E35308A Missense 358/363 - 1
2-179395421-A-C c.105921T>G p.V35307= Synonymous 358/363 - 1
2-179395422-A-G c.105920T>C p.V35307A Missense 358/363 - 1
2-179395425-A-G c.105917T>C p.V35306A Missense 358/363 - 1
2-179395428-C-G c.105914G>C p.C35305S Missense 358/363 - 1
2-179395427-ACAGGT-A c.105910_105914del p.T35304Cfs*3 Frameshift 358/363 - 1
2-179395432-T-TTGCA c.105909_105910insTGCA p.T35304Cfs*6 Frameshift 358/363 - 1
2-179395434-A-G c.105908T>C p.L35303P Missense 358/363 - 1
2-179395445-C-G c.105897G>C p.E35299D Missense 358/363 - 1
2-179395452-G-A c.105890C>T p.S35297F Missense 358/363 - 1
2-179395456-C-G c.105886G>C p.A35296P Missense 358/363 - 1
2-179395464-T-A c.105878A>T p.K35293I Missense 358/363 - 1
2-179395466-C-A c.105876G>T p.L35292= Synonymous 358/363 - 1
2-179395466-C-T c.105876G>A p.L35292= Synonymous 358/363 - 1
2-179395467-A-G c.105875T>C p.L35292P Missense 358/363 - 1
2-179395470-A-G c.105872T>C p.F35291S Missense 358/363 - 1
2-179395471-A-G c.105871T>C p.F35291L Missense 358/363 - 1
2-179395469-G-T c.105873C>A p.F35291L Missense 358/363 - 1
2-179395469-G-C c.105873C>G p.F35291L Missense 358/363 - 1
2-179395474-G-T c.105868C>A p.Q35290K Missense 358/363 - 1
2-179395477-T-C c.105865A>G p.T35289A Missense 358/363 - 2
2-179395478-A-T c.105864T>A p.I35288= Synonymous 358/363 - 1
2-179395485-G-A c.105857C>T p.P35286L Missense 358/363 - 1
2-179395488-G-A c.105854C>T p.P35285L Missense 358/363 - 1
2-179395494-G-A c.105848C>T p.S35283F Missense 358/363 - 1
2-179395500-G-A c.105842C>T p.P35281L Missense 358/363 - 1
2-179395502-G-A c.105840C>T p.L35280= Synonymous 358/363 - 1
2-179395504-G-A c.105838C>T p.L35280F Missense 358/363 - 1
2-179395508-C-G c.105834G>C p.Q35278H Missense 358/363 - 1
2-179395510-G-A c.105832C>T p.Q35278* Nonsense 358/363 - 5
2-179395517-C-G c.105825G>C p.E35275D Missense 358/363 - 1
2-179395517-C-A c.105825G>T p.E35275D Missense 358/363 - 1
2-179395518-T-G c.105824A>C p.E35275A Missense 358/363 - 1
2-179395519-C-A c.105823G>T p.E35275* Nonsense 358/363 - 1
2-179395519-C-T c.105823G>A p.E35275K Missense 358/363 - 1
2-179395521-G-A c.105821C>T p.T35274I Missense 358/363 - 1
2-179395522-T-C c.105820A>G p.T35274A Missense 358/363 - 1
2-179395524-G-T c.105818C>A p.P35273Q Missense 358/363 - 1
2-179395528-T-A c.105814A>T p.T35272S Missense 358/363 - 1
2-179395530-G-A c.105812C>T p.P35271L Missense 358/363 - 1
2-179395536-G-A c.105806C>T p.T35269I Missense 358/363 - 1
2-179395537-T-G c.105805A>C p.T35269P Missense 358/363 - 1
2-179395537-GT-G c.105805del p.T35269Qfs*24 Frameshift 358/363 - 1
2-179395538-C-G c.105804G>C p.E35268D Missense 358/363 - 1
2-179395538-C-A c.105804G>T p.E35268D Missense 358/363 - 1
2-179395540-C-T c.105802G>A p.E35268K Missense 358/363 - 1
2-179395540-CTG-C c.105800_105801del p.T35267Rfs*31 Frameshift 358/363 - 1
2-179395552-C-T c.105790G>A p.V35264I Missense 358/363 - 1
2-179395554-G-A c.105788C>T p.A35263V Missense 358/363 - 5
2-179395555-C-A c.105787G>T p.A35263S Missense 358/363 - 4
2-179395559-C-A c.105783G>T p.P35261= Synonymous 358/363 - 1
2-179395559-C-T c.105783G>A p.P35261= Synonymous 358/363 - 1
2-179395559-C-G c.105783G>C p.P35261= Synonymous 358/363 - 1
2-179395560-G-A c.105782C>T p.P35261L Missense 358/363 - 13
2-179395561-G-A c.105781C>T p.P35261S Missense 358/363 - 1
2-179395564-G-A c.105778C>T p.H35260Y Missense 358/363 - 1
2-179395569-G-A c.105773C>T p.P35258L Missense 358/363 - 1
2-179395570-G-C c.105772C>G p.P35258A Missense 358/363 - 1
2-179395570-G-A c.105772C>T p.P35258S Missense 358/363 - 1
2-179395573-C-T c.105769G>A p.E35257K Missense 358/363 - 5
2-179395585-C-T c.105757G>A p.V35253M Missense 358/363 - 2
2-179395587-C-T c.105755G>A p.R35252Q Missense 358/363 - 1
2-179395588-G-A c.105754C>T p.R35252* Nonsense 358/363 - 4
2-179395596-G-C c.105746C>G p.S35249C Missense 358/363 - 1
2-179395596-G-A c.105746C>T p.S35249F Missense 358/363 - 1
2-179395597-A-C c.105745T>G p.S35249A Missense 358/363 - 1
2-179395599-T-C c.105743A>G p.K35248R Missense 358/363 - 1
2-179395603-C-G c.105739G>C p.V35247L Missense 358/363 - 1
2-179395612-G-A c.105730C>T p.P35244S Missense 358/363 - 2
2-179395614-G-A c.105728C>T p.S35243F Missense 358/363 - 1
2-179395627-G-T c.105715C>A p.P35239T Missense 358/363 - 1
2-179395632-G-A c.105710C>T p.P35237L Missense 358/363 - 1
2-179395635-G-A c.105707C>T p.S35236F Missense 358/363 - 1
2-179395644-C-A c.105698G>T p.R35233I Missense 358/363 - 1
2-179395644-C-G c.105698G>C p.R35233T Missense 358/363 - 1
2-179395647-G-T c.105695C>A p.P35232Q Missense 358/363 - 2
2-179395650-G-A c.105692C>T p.P35231L Missense 358/363 - 1
2-179395651-G-T c.105691C>A p.P35231T Missense 358/363 - 1
2-179395651-G-A c.105691C>T p.P35231S Missense 358/363 - 1
2-179395662-G-A c.105680C>T p.A35227V Missense 358/363 - 1
2-179395669-C-A c.105673G>T p.E35225* Nonsense 358/363 - 1
2-179395669-C-T c.105673G>A p.E35225K Missense 358/363 - 2
2-179395675-C-T c.105667G>A p.V35223I Missense 358/363 - 1
2-179395687-G-T c.105655C>A p.Q35219K Missense 358/363 - 1
2-179395689-A-G c.105653T>C p.I35218T Missense 358/363 - 2
2-179395692-G-C c.105650C>G p.T35217S Missense 358/363 - 1
2-179395693-T-A c.105649A>T p.T35217S Missense 358/363 - 1
2-179395698-G-A c.105644C>T p.T35215I Missense 358/363 - 1
2-179395699-T-G c.105643A>C p.T35215P Missense 358/363 - 1
2-179395700-G-T c.105642C>A p.F35214L Missense 358/363 - 1
2-179395712-T-G c.105630A>C p.Q35210H Missense 358/363 - 1
2-179395717-T-G c.105625A>C p.K35209Q Missense 358/363 - 1
2-179395719-C-T c.105623G>A p.G35208E Missense 358/363 - 1
2-179395728-T-C c.105614A>G p.N35205S Missense 358/363 - 2
2-179395740-A-G c.105602T>C p.V35201A Missense 358/363 - 1
2-179395740-A-T c.105602T>A p.V35201E Missense 358/363 - 1
2-179395742-G-C c.105600C>G p.S35200R Missense 358/363 - 1
2-179395742-G-T c.105600C>A p.S35200R Missense 358/363 - 1
2-179395744-T-G c.105598A>C p.S35200R Missense 358/363 - 1
2-179395745-G-A c.105597C>T p.Y35199= Synonymous 358/363 - 1
2-179395746-T-C c.105596A>G p.Y35199C Missense 358/363 - 1
2-179395752-C-T c.105590G>A p.G35197D Missense 358/363 - 2
2-179395755-T-A c.105587A>T p.E35196V Missense 358/363 - 1
2-179395756-C-T c.105586G>A p.E35196K Missense 358/363 - 2
2-179395756-C-G c.105586G>C p.E35196Q Missense 358/363 - 1
2-179395759-C-T c.105583G>A p.D35195N Missense 358/363 - 2
2-179395760-G-A c.105582C>T p.S35194= Synonymous 358/363 - 7
2-179395760-G-C c.105582C>G p.S35194= Synonymous 358/363 - 1
2-179395760-G-T c.105582C>A p.S35194= Synonymous 358/363 - 1
2-179395765-C-A c.105577G>T p.A35193S Missense 358/363 - 1
2-179395768-G-A c.105574C>T p.Q35192* Nonsense 358/363 - 2
2-179395771-C-T c.105571G>A p.V35191I Missense 358/363 - 2
2-179395773-G-T c.105569C>A p.S35190* Nonsense 358/363 - 1
2-179395773-G-A c.105569C>T p.S35190L Missense 358/363 - 1
2-179395774-A-T c.105568T>A p.S35190T Missense 358/363 - 1
2-179395776-G-A c.105566C>T p.S35189F Missense 358/363 - 1
2-179395780-T-G c.105562A>C p.I35188L Missense 358/363 - 2
2-179395788-G-A c.105554C>T p.T35185I Missense 358/363 - 1
2-179395788-G-T c.105554C>A p.T35185N Missense 358/363 - 2
2-179395791-G-A c.105551C>T p.S35184L Missense 358/363 - 1
2-179395791-G-C c.105551C>G p.S35184* Nonsense 358/363 - 2
2-179395797-T-C c.105545A>G p.Y35182C Missense 358/363 - 1
2-179395804-T-C c.105538A>G p.T35180A Missense 358/363 - 1
2-179395808-G-A c.105534C>T p.T35178= Synonymous 358/363 - 1
2-179395810-T-C c.105532A>G p.T35178A Missense 358/363 - 1
2-179395806-GTGGTCACT-G c.105528_105535del p.Q35176Hfs*9 Frameshift 358/363 - 3
2-179395813-C-T c.105529G>A p.V35177M Missense 358/363 - 2
2-179395816-G-A c.105526C>T p.Q35176* Nonsense 358/363 - 1
2-179395821-C-T c.105521G>A p.R35174H Missense 358/363 - 1
2-179395822-G-A c.105520C>T p.R35174C Missense 358/363 - 5
2-179395823-G-A c.105519C>T p.A35173= Synonymous 358/363 - 1
2-179395827-G-A c.105515C>T p.S35172F Missense 358/363 - 2
2-179395830-G-A c.105512C>T p.T35171I Missense 358/363 - 1
2-179395835-T-A c.105507A>T p.L35169= Synonymous 358/363 - 1
2-179395835-T-C c.105507A>G p.L35169= Synonymous 358/363 - 1
2-179395835-T-G c.105507A>C p.L35169= Synonymous 358/363 - 1
2-179395836-A-T c.105506T>A p.L35169Q Missense 358/363 - 1
2-179395837-G-A c.105505C>T p.L35169= Synonymous 358/363 - 2
2-179395843-G-C c.105499C>G p.Q35167E Missense 358/363 - 1
2-179395845-C-A c.105497G>T p.G35166V Missense 358/363 - 1
2-179395849-T-A c.105493A>T p.K35165* Nonsense 358/363 - 1
2-179395851-C-T c.105491G>A p.R35164H Missense 358/363 - 1
2-179395852-G-A c.105490C>T p.R35164C Missense 358/363 - 3
2-179395856-C-A c.105486G>T p.W35162C Missense 358/363 - 1
2-179395856-C-G c.105486G>C p.W35162C Missense 358/363 - 1
2-179395855-GC-G c.105486del p.W35162Cfs*8 Frameshift 358/363 - 1
2-179395861-T-C c.105481A>G p.T35161A Missense 358/363 - 1
2-179395863-A-G c.105479T>C p.V35160A Missense 358/363 - 1
2-179395865-A-T c.105477T>A p.T35159= Synonymous 358/363 - 1
2-179395866-G-T c.105476C>A p.T35159N Missense 358/363 - 1
2-179395869-G-T c.105473C>A p.P35158Q Missense 358/363 - 1
2-179395870-G-A c.105472C>T p.P35158S Missense 358/363 - 1
2-179395870-G-T c.105472C>A p.P35158T Missense 358/363 - 2
2-179395870-G-C c.105472C>G p.P35158A Missense 358/363 - 1
2-179395874-C-T c.105468G>A p.P35156= Synonymous 358/363 - 3
2-179395875-G-A c.105467C>T p.P35156L Missense 358/363 - 1
2-179395885-C-T c.105457G>A p.D35153N Missense 358/363 - 3
2-179395887-G-A c.105455C>T p.T35152I Missense 358/363 - 1
2-179395889-G-A c.105453C>T p.D35151= Synonymous 358/363 - 1
2-179395891-C-T c.105451G>A p.D35151N Missense 358/363 - 1
2-179395908-G-T c.105434C>A p.S35145Y Missense 358/363 - 1
2-179395912-C-T c.105430G>A p.E35144K Missense 358/363 - 2
2-179395913-G-A c.105429C>T p.G35143= Synonymous 358/363 - 1
2-179395918-C-T c.105424G>A p.E35142K Missense 358/363 - 3
2-179395919-G-C c.105423C>G p.Y35141* Nonsense 358/363 - 2
2-179395924-C-T c.105418G>A p.V35140I Missense 358/363 - 1
2-179395926-G-A c.105416C>T p.T35139I Missense 358/363 - 1
2-179395929-A-T c.105413T>A p.M35138K Missense 358/363 - 1
2-179395930-T-C c.105412A>G p.M35138V Missense 358/363 - 1
2-179395932-G-A c.105410C>T p.S35137F Missense 358/363 - 1
2-179395932-G-C c.105410C>G p.S35137C Missense 358/363 - 1
2-179395933-A-G c.105409T>C p.S35137P Missense 358/363 - 1
2-179395934-C-T c.105408G>A p.R35136= Synonymous 358/363 - 1
2-179395935-C-T c.105407G>A p.R35136Q Missense 358/363 - 2
2-179395936-G-A c.105406C>T p.R35136W Missense 358/363 - 3
2-179395938-G-A c.105404C>T p.P35135L Missense 358/363 - 1
2-179395941-T-A c.105401A>T p.K35134M Missense 358/363 - 1
2-179395942-T-A c.105400A>T p.K35134* Nonsense 358/363 - 1
2-179395948-G-T c.105394C>A p.L35132I Missense 358/363 - 1
2-179395951-T-C c.105391A>G p.I35131V Missense 358/363 - 2
2-179395954-T-C c.105388A>G p.R35130G Missense 358/363 - 1
2-179395958-T-C c.105384A>G p.A35128= Synonymous 358/363 - 13
2-179395958-T-A c.105384A>T p.A35128= Synonymous 358/363 - 10
2-179395958-T-G c.105384A>C p.A35128= Synonymous 358/363 - 2
2-179395959-G-C c.105383C>G p.A35128G Missense 358/363 - 1
2-179395959-G-A c.105383C>T p.A35128V Missense 358/363 - 3
2-179395968-G-A c.105374C>T p.T35125M Missense 358/363 - 4
2-179395969-T-A c.105373A>T p.T35125S Missense 358/363 - 1
2-179395969-T-C c.105373A>G p.T35125A Missense 358/363 - 3
2-179395978-T-A c.105364A>T p.K35122* Nonsense 358/363 - 1
2-179395979-T-G c.105363A>C p.R35121S Missense 358/363 - 1
2-179395979-T-A c.105363A>T p.R35121S Missense 358/363 - 1
2-179395983-G-A c.105359C>T p.T35120I Missense 358/363 - 1
2-179395984-T-G c.105358A>C p.T35120P Missense 358/363 - 1
2-179395996-C-A c.105346G>T p.E35116* Nonsense 358/363 - 1
2-179395998-T-A c.105344A>T p.E35115V Missense 358/363 - 1
2-179396004-G-A c.105338C>T p.S35113L Missense 358/363 - 1
2-179396005-A-T c.105337T>A p.S35113T Missense 358/363 - 1
2-179396006-C-T c.105336G>A p.K35112= Synonymous 358/363 - 1
2-179396011-C-G c.105331G>C p.E35111Q Missense 358/363 - 1
2-179396011-C-T c.105331G>A p.E35111K Missense 358/363 - 1
2-179396014-C-G c.105328G>C p.E35110Q Missense 358/363 - 1
2-179396023-C-T c.105319G>A p.A35107T Missense 358/363 - 1
2-179396027-T-G c.105315A>C p.K35105N Missense 358/363 - 1
2-179396027-T-A c.105315A>T p.K35105N Missense 358/363 - 1
2-179396030-C-G c.105312G>C p.M35104I Missense 358/363 - 1
2-179396030-C-T c.105312G>A p.M35104I Missense 358/363 - 1
2-179396030-C-A c.105312G>T p.M35104I Missense 358/363 - 1
2-179396037-G-A c.105305C>T p.A35102V Missense 358/363 - 1
2-179396041-A-G c.105301T>C p.S35101P Missense 358/363 - 1
2-179396043-G-A c.105299C>T p.A35100V Missense 358/363 - 2
2-179396046-G-A c.105296C>T p.S35099F Missense 358/363 - 1
2-179396053-C-T c.105289G>A p.E35097K Missense 358/363 - 1
2-179396056-A-T c.105286T>A p.Y35096N Missense 358/363 - 3
2-179396063-G-A c.105279C>T p.L35093= Synonymous 358/363 - 4
2-179396063-G-C c.105279C>G p.L35093= Synonymous 358/363 - 3
2-179396063-G-T c.105279C>A p.L35093= Synonymous 358/363 - 3
2-179396065-G-A c.105277C>T p.L35093F Missense 358/363 - 1
2-179396067-C-T c.105275G>A p.S35092N Missense 358/363 - 1
2-179396071-C-T c.105271G>A p.E35091K Missense 358/363 - 1
2-179396080-C-T c.105262G>A p.E35088K Missense 358/363 - 1
2-179396082-G-A c.105260C>T p.T35087M Missense 358/363 - 3
2-179396089-G-A c.105253C>T p.Q35085* Nonsense 358/363 - 1
2-179396101-C-T c.105241G>A p.E35081K Missense 358/363 - 3
2-179396114-C-T c.105228G>A p.S35076= Synonymous 358/363 - 2
2-179396114-C-A c.105228G>T p.S35076= Synonymous 358/363 - 1
2-179396114-C-G c.105228G>C p.S35076= Synonymous 358/363 - 1
2-179396115-G-A c.105227C>T p.S35076L Missense 358/363 - 4
2-179396122-C-T c.105220G>A p.E35074K Missense 358/363 - 1
2-179396123-C-T c.105219G>A p.M35073I Missense 358/363 - 1
2-179396130-G-C c.105212C>G p.S35071C Missense 358/363 - 1
2-179396135-T-G c.105207A>C p.K35069N Missense 358/363 - 1
2-179396135-T-A c.105207A>T p.K35069N Missense 358/363 - 1
2-179396140-T-A c.105202A>T p.K35068* Nonsense 358/363 - 1
2-179396140-T-TA c.105201dup p.K35068* Nonsense 358/363 - 1
2-179396154-G-T c.105188C>A p.A35063D Missense 358/363 - 1
2-179396160-G-A c.105182C>T p.A35061V Missense 358/363 - 1
2-179396162-C-G c.105180G>C p.E35060D Missense 358/363 - 7
2-179396162-C-A c.105180G>T p.E35060D Missense 358/363 - 6
2-179396162-C-T c.105180G>A p.E35060= Synonymous 358/363 - 1
2-179396169-C-T c.105173G>A p.R35058K Missense 358/363 - 1
2-179396169-C-G c.105173G>C p.R35058T Missense 358/363 - 1
2-179396174-C-A c.105168G>T p.L35056= Synonymous 358/363 - 1
2-179396174-C-T c.105168G>A p.L35056= Synonymous 358/363 - 1
2-179396174-C-G c.105168G>C p.L35056= Synonymous 358/363 - 1
2-179396176-G-A c.105166C>T p.L35056= Synonymous 358/363 - 1
2-179396182-G-A c.105160C>T p.P35054S Missense 358/363 - 2
2-179396187-A-C c.105155T>G p.V35052G Missense 358/363 - 1
2-179396192-T-G c.105150A>C p.R35050S Missense 358/363 - 1
2-179396192-T-A c.105150A>T p.R35050S Missense 358/363 - 1
2-179396193-C-G c.105149G>C p.R35050T Missense 358/363 - 1
2-179396195-G-T c.105147C>A p.P35049= Synonymous 358/363 - 1
2-179396203-C-A c.105139G>T p.E35047* Nonsense 358/363 - 1
2-179396205-T-G c.105137A>C p.E35046A Missense 358/363 - 1
2-179396206-C-T c.105136G>A p.E35046K Missense 358/363 - 2
2-179396209-TC-T c.105133del p.D35045Mfs*12 Frameshift 358/363 - 1
2-179396209-C-G c.105133G>C p.D35045H Missense 358/363 - 2
2-179396214-C-G c.105128G>C p.R35043P Missense 358/363 - 1
2-179396215-G-A c.105127C>T p.R35043C Missense 358/363 - 1
2-179396220-G-A c.105122C>T p.S35041F Missense 358/363 - 1
2-179396226-T-A c.105116A>T p.Y35039F Missense 358/363 - 1
2-179396232-GGT-G c.105109_105110del p.T35037Hfs*9 Frameshift 358/363 - 1
2-179396233-T-C c.105109A>G p.T35037A Missense 358/363 - 1
2-179396239-C-T c.105103G>A p.D35035N Missense 358/363 - 1
2-179396241-C-A c.105101G>T p.G35034V Missense 358/363 - 1
2-179396241-C-T c.105101G>A p.G35034E Missense 358/363 - 2
2-179396242-C-T c.105100G>A p.G35034R Missense 358/363 - 1
2-179396242-C-G c.105100G>C p.G35034R Missense 358/363 - 1
2-179396242-C-A c.105100G>T p.G35034W Missense 358/363 - 1
2-179396244-C-T c.105098G>A p.G35033E Missense 358/363 - 1
2-179396251-C-T c.105091G>A p.V35031M Missense 358/363 - 3
2-179396252-G-A c.105090C>T p.D35030= Synonymous 358/363 - 1
2-179396252-G-C c.105090C>G p.D35030E Missense 358/363 - 1
2-179396252-G-T c.105090C>A p.D35030E Missense 358/363 - 1
2-179396253-T-C c.105089A>G p.D35030G Missense 358/363 - 1
2-179396256-A-C c.105086T>G p.L35029W Missense 358/363 - 1
2-179396259-G-A c.105083C>T p.T35028M Missense 358/363 - 1
2-179396269-C-T c.105073G>A p.D35025N Missense 358/363 - 1
2-179396269-C-G c.105073G>C p.D35025H Missense 358/363 - 1
2-179396272-A-C c.105070T>G p.S35024A Missense 358/363 - 1
2-179396278-C-T c.105064G>A p.E35022K Missense 358/363 - 2
2-179396279-G-A c.105063C>T p.G35021= Synonymous 358/363 - 3
2-179396279-G-C c.105063C>G p.G35021= Synonymous 358/363 - 3
2-179396279-G-T c.105063C>A p.G35021= Synonymous 358/363 - 3
2-179396280-C-T c.105062G>A p.G35021D Missense 358/363 - 1
2-179396283-T-G c.105059A>C p.K35020T Missense 358/363 - 1
2-179396284-T-C c.105058A>G p.K35020E Missense 358/363 - 1
2-179396300-A-G c.105042T>C p.A35014= Synonymous 358/363 - 1
2-179396304-C-T c.105038G>A p.R35013H Missense 358/363 - 3
2-179396305-G-A c.105037C>T p.R35013C Missense 358/363 - 1
2-179396305-G-T c.105037C>A p.R35013S Missense 358/363 - 1
2-179396306-G-T c.105036C>A p.Y35012* Nonsense 358/363 - 1
2-179396328-T-A c.105014A>T p.H35005L Missense 358/363 - 1
2-179396333-G-C c.105009C>G p.D35003E Missense 358/363 - 1
2-179396333-G-T c.105009C>A p.D35003E Missense 358/363 - 1
2-179396348-G-A c.104994C>T p.T34998= Synonymous 358/363 - 1
2-179396350-T-A c.104992A>T p.T34998S Missense 358/363 - 1
2-179396353-G-C c.104989C>G p.L34997V Missense 358/363 - 2
2-179396354-G-A c.104988C>T p.V34996= Synonymous 358/363 - 14
2-179396354-G-T c.104988C>A p.V34996= Synonymous 358/363 - 10
2-179396354-G-C c.104988C>G p.V34996= Synonymous 358/363 - 3
2-179396359-C-T c.104983G>A p.G34995R Missense 358/363 - 1
2-179396359-C-G c.104983G>C p.G34995R Missense 358/363 - 1
2-179396361-C-T c.104981G>A p.S34994N Missense 358/363 - 2
2-179396364-G-A c.104978C>T p.T34993M Missense 358/363 - 4
2-179396364-G-T c.104978C>A p.T34993K Missense 358/363 - 1
2-179396370-G-T c.104972C>A p.T34991N Missense 358/363 - 1
2-179396371-T-C c.104971A>G p.T34991A Missense 358/363 - 1
2-179396376-T-C c.104966A>G p.H34989R Missense 358/363 - 1
2-179396377-G-A c.104965C>T p.H34989Y Missense 358/363 - 1
2-179396380-T-G c.104962A>C p.I34988L Missense 358/363 - 1
2-179396384-A-C c.104958T>G p.S34986R Missense 358/363 - 1
2-179396384-A-T c.104958T>A p.S34986R Missense 358/363 - 1
2-179396386-T-G c.104956A>C p.S34986R Missense 358/363 - 1
2-179396388-C-G c.104954G>C p.S34985T Missense 358/363 - 1
2-179396389-T-C c.104953A>G p.S34985G Missense 358/363 - 1
2-179396395-G-A c.104947C>T p.Q34983* Nonsense 358/363 - 3
2-179396405-A-C c.104937T>G p.G34979= Synonymous 358/363 - 1
2-179396405-A-T c.104937T>A p.G34979= Synonymous 358/363 - 1
2-179396405-A-G c.104937T>C p.G34979= Synonymous 358/363 - 1
2-179396406-C-G c.104936G>C p.G34979A Missense 358/363 - 2
2-179396410-T-C c.104932A>G p.N34978D Missense 358/363 - 1
2-179396412-T-C c.104930A>G p.H34977R Missense 358/363 - 1
2-179396420-T-C c.104922A>G p.K34974= Synonymous 358/363 - 1
2-179396426-C-T c.104916G>A p.E34972= Synonymous 358/363 - 1
2-179396428-C-T c.104914G>A p.E34972K Missense 358/363 - 3
2-179396432-A-T c.104910T>A p.T34970= Synonymous 358/363 - 1
2-179396432-A-C c.104910T>G p.T34970= Synonymous 358/363 - 1
2-179396432-A-G c.104910T>C p.T34970= Synonymous 358/363 - 1
2-179396436-G-A c.104906C>T p.P34969L Missense 358/363 - 1
2-179396445-T-G c.104897A>C p.Q34966P Missense 358/363 - 1
2-179396451-T-C c.104891A>G p.N34964S Missense 358/363 - 1
2-179396455-A-C c.104887T>G p.L34963V Missense 358/363 - 1
2-179396457-A-C c.104885T>G p.I34962S Missense 358/363 - 1
2-179396463-C-T c.104879G>A p.R34960H Missense 358/363 - 1
2-179396464-G-A c.104878C>T p.R34960C Missense 358/363 - 4
2-179396468-TA-T c.104874del p.N34958Kfs*6 Frameshift 358/363 - 1
2-179396474-GC-G c.104867del p.G34956Afs*8 Frameshift 358/363 - 1
2-179396482-G-A c.104860C>T p.P34954S Missense 358/363 - 1
2-179396483-T-G c.104859A>C p.V34953= Synonymous 358/363 - 1
2-179396483-T-C c.104859A>G p.V34953= Synonymous 358/363 - 1
2-179396483-T-A c.104859A>T p.V34953= Synonymous 358/363 - 1
2-179396485-C-T c.104857G>A p.V34953I Missense 358/363 - 1
2-179396486-C-G c.104856G>C p.R34952S Missense 358/363 - 1
2-179396493-G-A c.104849C>T p.S34950L Missense 358/363 - 1
2-179396496-C-T c.104846G>A p.R34949H Missense 358/363 - 2
2-179396497-G-A c.104845C>T p.R34949C Missense 358/363 - 3
2-179396498-C-G c.104844G>C p.M34948I Missense 358/363 - 1
2-179396498-C-T c.104844G>A p.M34948I Missense 358/363 - 1
2-179396498-C-A c.104844G>T p.M34948I Missense 358/363 - 1
2-179396500-T-C c.104842A>G p.M34948V Missense 358/363 - 1
2-179396509-T-A c.104833A>T p.T34945S Missense 358/363 - 1
2-179396512-T-C c.104830A>G p.I34944V Missense 358/363 - 2
2-179396514-C-T c.104828G>A p.R34943Q Missense 358/363 - 2
2-179396514-C-G c.104828G>C p.R34943P Missense 358/363 - 1
2-179396515-G-A c.104827C>T p.R34943* Nonsense 358/363 - 4
2-179396530-G-C c.104812C>G p.L34938V Missense 358/363 - 1
2-179396538-G-A c.104804C>T p.P34935L Missense 358/363 - 1
2-179396542-G-A c.104800C>T p.Q34934* Nonsense 358/363 - 1
2-179396548-T-C c.104794A>G p.S34932G Missense 358/363 - 1
2-179396559-T-A c.104783A>T p.Y34928F Missense 358/363 - 1
2-179396561-C-G c.104781G>C p.K34927N Missense 358/363 - 1
2-179396566-T-C c.104776A>G p.R34926G Missense 358/363 - 1
2-179396567-T-G c.104775A>C p.E34925D Missense 358/363 - 1
2-179396568-T-G c.104774A>C p.E34925A Missense 358/363 - 6
2-179396569-C-T c.104773G>A p.E34925K Missense 358/363 - 2
2-179396571-G-T c.104771C>A p.S34924* Nonsense 358/363 - 1
2-179396573-T-G c.104769A>C p.T34923= Synonymous 358/363 - 1
2-179396579-C-T c.104763G>A p.Q34921= Synonymous 358/363 - 1
2-179396581-G-T c.104761C>A p.Q34921K Missense 358/363 - 1
2-179396584-T-G c.104758A>C p.T34920P Missense 358/363 - 1
2-179396592-G-T c.104750C>A p.A34917D Missense 358/363 - 1
2-179396593-C-T c.104749G>A p.A34917T Missense 358/363 - 1
2-179396596-C-T c.104746G>A p.A34916T Missense 358/363 - 1
2-179396597-T-G c.104745A>C p.K34915N Missense 358/363 - 1
2-179396601-A-G c.104741T>C p.M34914T Missense 358/363 - 2
2-179396601-A-T c.104741T>A p.M34914K Missense 358/363 - 2
2-179396604-G-A c.104738C>T p.S34913F Missense 358/363 - 2
2-179396608-C-T c.104734G>A p.E34912K Missense 358/363 - 1
2-179396618-A-C c.104724T>G p.F34908L Missense 358/363 - 1
2-179396625-AT-A c.104717del p.D34906Vfs*9 Frameshift 358/363 - 1
2-179396632-T-C c.104710A>G p.R34904G Missense 358/363 - 1
2-179396634-G-C c.104708C>G p.A34903G Missense 358/363 - 1
2-179396645-A-G c.104697T>C p.F34899= Synonymous 358/363 - 1
2-179396644-C-CA c.104697dup p.E34900* Nonsense 358/363 - 1
2-179396649-C-G c.104693G>C p.R34898T Missense 358/363 - 1
2-179396652-G-T c.104690C>A p.S34897* Nonsense 358/363 - 2
2-179396661-C-G c.104681G>C p.R34894T Missense 358/363 - 1
2-179396664-T-G c.104678A>C p.E34893A Missense 358/363 - 1
2-179396665-C-A c.104677G>T p.E34893* Nonsense 358/363 - 1
2-179396668-T-C c.104674A>G p.S34892G Missense 358/363 - 1
2-179396682-G-A c.104660C>T p.P34887L Missense 358/363 - 1
2-179396684-G-A c.104658C>T p.S34886= Synonymous 358/363 - 1
2-179396685-G-A c.104657C>T p.S34886F Missense 358/363 - 1
2-179396687-T-A c.104655A>T p.R34885= Synonymous 358/363 - 1
2-179396688-C-T c.104654G>A p.R34885Q Missense 358/363 - 3
2-179396689-G-A c.104653C>T p.R34885* Nonsense 358/363 - 2
2-179396691-GGGCGA-G c.104646_104650del p.R34883Tfs*8 Frameshift 358/363 - 1
2-179396695-G-A c.104647C>T p.R34883C Missense 358/363 - 2
2-179396701-T-A c.104641A>T p.R34881* Nonsense 358/363 - 1
2-179396705-TG-T c.104636del p.P34879Qfs*36 Frameshift 358/363 - 1
2-179396709-G-C c.104633C>G p.T34878S Missense 358/363 - 1
2-179396710-T-A c.104632A>T p.T34878S Missense 358/363 - 1
2-179396709-G-A c.104633C>T p.T34878I Missense 358/363 - 1
2-179396712-G-A c.104630C>T p.P34877L Missense 358/363 - 1
2-179396714-T-A c.104628A>T p.S34876= Synonymous 358/363 - 1
2-179396714-T-C c.104628A>G p.S34876= Synonymous 358/363 - 1
2-179396715-G-A c.104627C>T p.S34876L Missense 358/363 - 2
2-179396722-T-A c.104620A>T p.R34874* Nonsense 358/363 - 1
2-179396725-C-A c.104617G>T p.E34873* Nonsense 358/363 - 1
2-179396734-C-T c.104608G>A p.D34870N Missense 358/363 - 1
2-179396737-C-T c.104605G>A p.E34869K Missense 358/363 - 3
2-179396738-G-A c.104604C>T p.Y34868= Synonymous 358/363 - 1
2-179396766-C-T c.104576G>A p.R34859Q Missense 358/363 - 5
2-179396767-G-A c.104575C>T p.R34859W Missense 358/363 - 3
2-179396768-G-A c.104574C>T p.I34858= Synonymous 358/363 - 1
2-179396772-A-G c.104570T>C p.L34857P Missense 358/363 - 1
2-179396778-G-T c.104564C>A p.S34855Y Missense 358/363 - 1
2-179396781-A-C c.104561T>G p.V34854G Missense 358/363 - 1
2-179396782-C-G c.104560G>C p.V34854L Missense 358/363 - 4
2-179396782-C-A c.104560G>T p.V34854L Missense 358/363 - 2
2-179396784-G-T c.104558C>A p.P34853Q Missense 358/363 - 1
2-179396784-G-A c.104558C>T p.P34853L Missense 358/363 - 1
2-179396785-G-A c.104557C>T p.P34853S Missense 358/363 - 1
2-179396789-C-G c.104553G>C p.M34851I Missense 358/363 - 1
2-179396789-C-T c.104553G>A p.M34851I Missense 358/363 - 1
2-179396789-C-A c.104553G>T p.M34851I Missense 358/363 - 1
2-179396790-A-C c.104552T>G p.M34851R Missense 358/363 - 1
2-179396797-C-T c.104545G>A p.E34849K Missense 358/363 - 1
2-179396811-G-A c.104531C>T p.S34844F Missense 358/363 - 1
2-179396816-G-A c.104526C>T p.S34842= Synonymous 358/363 - 1
2-179396818-A-G c.104524T>C p.S34842P Missense 358/363 - 1
2-179396818-GA-G c.104524del p.S34842Pfs*9 Frameshift 358/363 - 1
2-179396820-C-T c.104522G>A p.R34841H Missense 358/363 - 1
2-179396821-G-A c.104521C>T p.R34841C Missense 358/363 - 1
2-179396823-C-T c.104519G>A p.R34840Q Missense 358/363 - 2
2-179396824-G-A c.104518C>T p.R34840W Missense 358/363 - 1
2-179396826-C-T c.104516G>A p.R34839Q Missense 358/363 - 6
2-179396827-G-A c.104515C>T p.R34839* Nonsense 358/363 - 3
2-179396829-C-A c.104513G>T p.R34838I Missense 358/363 - 1
2-179396832-CAG-C c.104509_104510del p.L34837Efs*12 Frameshift 358/363 - 3
2-179396832-A-G c.104510T>C p.L34837P Missense 358/363 - 1
2-179396836-G-T c.104506C>A p.L34836I Missense 358/363 - 1
2-179396837-T-A c.104505A>T p.R34835S Missense 358/363 - 1
2-179396841-G-C c.104501C>G p.S34834C Missense 358/363 - 1
2-179396844-G-A c.104498C>T p.A34833V Missense 358/363 - 1
2-179396845-C-A c.104497G>T p.A34833S Missense 358/363 - 1
2-179396848-A-C c.104494T>G p.S34832A Missense 358/363 - 1
2-179396849-T-G c.104493A>C p.S34831= Synonymous 358/363 - 1
2-179396858-T-A c.104484A>T p.E34828D Missense 358/363 - 1
2-179396861-T-G c.104481A>C p.R34827S Missense 358/363 - 1
2-179396861-T-A c.104481A>T p.R34827S Missense 358/363 - 1
2-179396870-A-T c.104472T>A p.H34824Q Missense 358/363 - 1
2-179396870-A-C c.104472T>G p.H34824Q Missense 358/363 - 1
2-179396877-G-A c.104465C>T p.S34822L Missense 358/363 - 2
2-179396884-C-T c.104458G>A p.E34820K Missense 358/363 - 4
2-179396885-G-A c.104457C>T p.Y34819= Synonymous 358/363 - 1
2-179396891-T-G c.104451A>C p.E34817D Missense 358/363 - 1
2-179396891-T-A c.104451A>T p.E34817D Missense 358/363 - 1
2-179396893-C-T c.104449G>A p.E34817K Missense 358/363 - 1
2-179396895-T-C c.104447A>G p.E34816G Missense 358/363 - 1
2-179396917-C-T c.104425G>A p.V34809M Missense 358/363 - 1
2-179396916-ACTTCT-A c.104421_104425del p.R34807Sfs*8 Frameshift 358/363 - 2
2-179396926-G-A c.104416C>T p.Q34806* Nonsense 358/363 - 1
2-179396928-C-T c.104414G>A p.R34805Q Missense 358/363 - 2
2-179396928-C-A c.104414G>T p.R34805L Missense 358/363 - 1
2-179396929-G-A c.104413C>T p.R34805* Nonsense 358/363 - 6
2-179396937-T-A c.104405A>T p.K34802I Missense 358/363 - 2
2-179396943-TC-T c.104399del p.R34800Kfs*10 Frameshift 358/363 - 2
2-179396946-G-A c.104396C>T p.S34799F Missense 358/363 - 1
2-179396946-G-T c.104396C>A p.S34799Y Missense 358/363 - 1
2-179396952-T-G c.104390A>C p.E34797A Missense 358/363 - 1
2-179396956-C-T c.104386G>A p.E34796K Missense 358/363 - 1
2-179396957-C-T c.104385G>A p.K34795= Synonymous 358/363 - 1
2-179396959-T-A c.104383A>T p.K34795* Nonsense 358/363 - 1
2-179396959-T-G c.104383A>C p.K34795Q Missense 358/363 - 1
2-179396961-G-A c.104381C>T p.S34794L Missense 358/363 - 1
2-179396962-A-G c.104380T>C p.S34794P Missense 358/363 - 1
2-179396962-A-C c.104380T>G p.S34794A Missense 358/363 - 1
2-179396965-T-G c.104377A>C p.M34793L Missense 358/363 - 5
2-179396965-T-A c.104377A>T p.M34793L Missense 358/363 - 1
2-179396968-A-G c.104374T>C p.F34792L Missense 358/363 - 2
2-179396966-G-T c.104376C>A p.F34792L Missense 358/363 - 2
2-179396966-G-C c.104376C>G p.F34792L Missense 358/363 - 2
2-179396976-T-C c.104366A>G p.E34789G Missense 358/363 - 1
2-179396977-C-T c.104365G>A p.E34789K Missense 358/363 - 1
2-179396978-G-C c.104364C>G p.S34788R Missense 358/363 - 1
2-179396978-G-T c.104364C>A p.S34788R Missense 358/363 - 1
2-179396980-T-G c.104362A>C p.S34788R Missense 358/363 - 1
2-179396983-T-C c.104359A>G p.K34787E Missense 358/363 - 1
2-179396989-C-T c.104353G>A p.E34785K Missense 358/363 - 1
2-179396995-G-A c.104347C>T p.L34783F Missense 358/363 - 2
2-179396997-T-C c.104345A>G p.H34782R Missense 358/363 - 1
2-179397006-G-T c.104336C>A p.T34779N Missense 358/363 - 1
2-179397007-T-G c.104335A>C p.T34779P Missense 358/363 - 1
2-179397009-G-A c.104333C>T p.T34778M Missense 358/363 - 3
2-179397009-G-T c.104333C>A p.T34778K Missense 358/363 - 1
2-179397018-C-A c.104324G>T p.R34775L Missense 358/363 - 1
2-179397024-A-G c.104318T>C p.L34773S Missense 358/363 - 1
2-179397027-T-C c.104315A>G p.E34772G Missense 358/363 - 1
2-179397029-T-C c.104313A>G p.E34771= Synonymous 358/363 - 1
2-179397031-C-T c.104311G>A p.E34771K Missense 358/363 - 1
2-179397034-C-T c.104308G>A p.D34770N Missense 358/363 - 1
2-179397035-C-T c.104307G>A p.E34769= Synonymous 358/363 - 1
2-179397037-C-T c.104305G>A p.E34769K Missense 358/363 - 3
2-179397039-C-T c.104303G>A p.R34768K Missense 358/363 - 1
2-179397039-C-A c.104303G>T p.R34768M Missense 358/363 - 1
2-179397043-C-T c.104299G>A p.E34767K Missense 358/363 - 2
2-179397048-A-T c.104294T>A p.M34765K Missense 358/363 - 1
2-179397051-A-T c.104291T>A p.I34764N Missense 358/363 - 2
2-179397054-C-A c.104288G>T p.R34763I Missense 358/363 - 1
2-179397054-C-T c.104288G>A p.R34763K Missense 358/363 - 1
2-179397060-C-T c.104282G>A p.R34761Q Missense 358/363 - 1
2-179397069-G-A c.104273C>T p.P34758L Missense 358/363 - 1
2-179397070-G-A c.104272C>T p.P34758S Missense 358/363 - 1
2-179397074-T-C c.104268A>G p.R34756= Synonymous 358/363 - 1
2-179397076-T-G c.104266A>C p.R34756= Synonymous 358/363 - 1
2-179397081-G-A c.104261C>T p.A34754V Missense 358/363 - 3
2-179397088-G-A c.104254C>T p.Q34752* Nonsense 358/363 - 1
2-179397090-G-T c.104252C>A p.A34751D Missense 358/363 - 1
2-179397091-C-G c.104251G>C p.A34751P Missense 358/363 - 4
2-179397097-G-A c.104245C>T p.R34749W Missense 358/363 - 3
2-179397097-G-T c.104245C>A p.R34749= Synonymous 358/363 - 1
2-179397095-C-T c.104247G>A p.R34749= Synonymous 358/363 - 1
2-179397095-C-G c.104247G>C p.R34749= Synonymous 358/363 - 1
2-179397095-C-A c.104247G>T p.R34749= Synonymous 358/363 - 1
2-179397100-C-T c.104242G>A p.E34748K Missense 358/363 - 2
2-179397108-T-A c.104234A>T p.E34745V Missense 358/363 - 1
2-179397109-C-A c.104233G>T p.E34745* Nonsense 358/363 - 1
2-179397120-G-A c.104222C>T p.T34741I Missense 358/363 - 2
2-179397126-G-A c.104216C>T p.A34739V Missense 358/363 - 1
2-179397126-G-C c.104216C>G p.A34739G Missense 358/363 - 1
2-179397133-C-A c.104209G>T p.A34737S Missense 358/363 - 1
2-179397133-C-T c.104209G>A p.A34737T Missense 358/363 - 1
2-179397136-T-A c.104206A>T p.K34736* Nonsense 358/363 - 1
2-179397138-G-A c.104204C>T p.T34735M Missense 358/363 - 3
2-179397139-T-C c.104203A>G p.T34735A Missense 358/363 - 1
2-179397144-A-G c.104198T>C p.I34733T Missense 358/363 - 1
2-179397151-A-C c.104191T>G p.Y34731D Missense 358/363 - 1
2-179397153-G-A c.104189C>T p.T34730I Missense 358/363 - 2
2-179397154-T-C c.104188A>G p.T34730A Missense 358/363 - 2
2-179397157-A-T c.104185T>A p.S34729T Missense 358/363 - 1
2-179397167-G-C c.104175C>G p.D34725E Missense 358/363 - 1
2-179397167-G-T c.104175C>A p.D34725E Missense 358/363 - 1
2-179397168-T-G c.104174A>C p.D34725A Missense 358/363 - 1
2-179397169-C-T c.104173G>A p.D34725N Missense 358/363 - 1
2-179397169-C-G c.104173G>C p.D34725H Missense 358/363 - 1
2-179397171-T-C c.104171A>G p.K34724R Missense 358/363 - 1
2-179397169-CTT-C c.104171_104172del p.K34724Rfs*14 Frameshift 358/363 - 1
2-179397174-C-T c.104168G>A p.R34723K Missense 358/363 - 2
2-179397177-G-A c.104165C>T p.T34722I Missense 358/363 - 1
2-179397181-C-T c.104161G>A p.E34721K Missense 358/363 - 1
2-179397182-C-G c.104160G>C p.E34720D Missense 358/363 - 1
2-179397182-C-A c.104160G>T p.E34720D Missense 358/363 - 1
2-179397183-T-A c.104159A>T p.E34720V Missense 358/363 - 1
2-179397184-C-T c.104158G>A p.E34720K Missense 358/363 - 1
2-179397186-A-C c.104156T>G p.V34719G Missense 358/363 - 1
2-179397186-A-G c.104156T>C p.V34719A Missense 358/363 - 1
2-179397188-C-T c.104154G>A p.K34718= Synonymous 358/363 - 3
2-179397195-T-G c.104147A>C p.H34716P Missense 358/363 - 1
2-179397205-G-T c.104137C>A p.P34713T Missense 358/363 - 1
2-179397216-C-T c.104126G>A p.R34709H Missense 358/363 - 2
2-179397217-G-A c.104125C>T p.R34709C Missense 358/363 - 4
2-179397221-G-C c.104121C>G p.S34707R Missense 358/363 - 1
2-179397221-G-T c.104121C>A p.S34707R Missense 358/363 - 1
2-179397223-T-G c.104119A>C p.S34707R Missense 358/363 - 1
2-179397229-G-A c.104113C>T p.L34705F Missense 358/363 - 1
2-179397229-AG-A c.104113del p.L34705Ffs*42 Frameshift 358/363 - 1
2-179397232-C-CA c.104109dup p.E34704* Nonsense 358/363 - 2
2-179397236-G-T c.104106C>A p.H34702Q Missense 358/363 - 1
2-179397236-G-C c.104106C>G p.H34702Q Missense 358/363 - 1
2-179397249-C-T c.104093G>A p.R34698Q Missense 358/363 - 2
2-179397250-G-A c.104092C>T p.R34698* Nonsense 358/363 - 5
2-179397253-T-C c.104089A>G p.S34697G Missense 358/363 - 1
2-179397259-G-C c.104083C>G p.P34695A Missense 358/363 - 1
2-179397259-G-A c.104083C>T p.P34695S Missense 358/363 - 1
2-179397264-G-A c.104078C>T p.A34693V Missense 358/363 - 1
2-179397276-A-T c.104066T>A p.L34689* Nonsense 358/363 - 1
2-179397280-C-T c.104062G>A p.E34688K Missense 358/363 - 1
2-179397286-C-T c.104056G>A p.E34686K Missense 358/363 - 1
2-179397288-T-A c.104054A>T p.E34685V Missense 358/363 - 1
2-179397290-CTTCAAGACGCAGCCTCTCTTCCTCTGTTCTTTTCATTGCTAAGTAGTCATCAATGGGGA-C c.103994_104052del p.L34665Rfs*4 InFrameDeletion 358/363 - 1
2-179397295-G-T c.104047C>A p.L34683I Missense 358/363 - 2
2-179397297-C-T c.104045G>A p.R34682H Missense 358/363 - 1
2-179397298-G-A c.104044C>T p.R34682C Missense 358/363 - 3
2-179397302-C-G c.104040G>C p.R34680S Missense 358/363 - 1
2-179397303-C-T c.104039G>A p.R34680K Missense 358/363 - 1
2-179397310-C-T c.104032G>A p.E34678K Missense 358/363 - 2
2-179397315-G-C c.104027C>G p.T34676R Missense 358/363 - 1
2-179397316-T-G c.104026A>C p.T34676P Missense 358/363 - 1
2-179397318-C-A c.104024G>T p.R34675I Missense 358/363 - 2
2-179397318-C-T c.104024G>A p.R34675K Missense 358/363 - 1
2-179397321-T-G c.104021A>C p.K34674T Missense 358/363 - 1
2-179397323-C-G c.104019G>C p.M34673I Missense 358/363 - 1
2-179397323-C-T c.104019G>A p.M34673I Missense 358/363 - 1
2-179397323-C-A c.104019G>T p.M34673I Missense 358/363 - 1
2-179397325-T-C c.104017A>G p.M34673V Missense 358/363 - 1
2-179397329-T-A c.104013A>T p.L34671F Missense 358/363 - 2
2-179397329-T-G c.104013A>C p.L34671F Missense 358/363 - 1
2-179397332-G-T c.104010C>A p.Y34670* Nonsense 358/363 - 1
2-179397343-T-C c.103999A>G p.I34667V Missense 358/363 - 1
2-179397349-G-A c.103993C>T p.L34665F Missense 358/363 - 1
2-179397349-G-C c.103993C>G p.L34665V Missense 358/363 - 1
2-179397358-C-T c.103984G>A p.E34662K Missense 358/363 - 1
2-179397363-T-C c.103979A>G p.D34660G Missense 358/363 - 1
2-179397378-A-G c.103964T>C p.L34655P Missense 358/363 - 1
2-179397384-C-T c.103958G>A p.R34653H Missense 358/363 - 1
2-179397384-C-A c.103958G>T p.R34653L Missense 358/363 - 2
2-179397385-G-A c.103957C>T p.R34653C Missense 358/363 - 1
2-179397387-C-T c.103955G>A p.R34652K Missense 358/363 - 1
2-179397390-C-T c.103952G>A p.R34651K Missense 358/363 - 1
2-179397391-T-C c.103951A>G p.R34651G Missense 358/363 - 1
2-179397396-C-T c.103946G>A p.R34649Q Missense 358/363 - 3
2-179397397-G-A c.103945C>T p.R34649* Nonsense 358/363 - 2
2-179397402-T-G c.103940A>C p.Y34647S Missense 358/363 - 1
2-179397403-A-G c.103939T>C p.Y34647H Missense 358/363 - 1
2-179397415-C-T c.103927G>A p.D34643N Missense 358/363 - 1
2-179397415-CAGG-C c.103924_103926del p.P34642del InFrameDeletion 358/363 - 1
2-179397424-G-A c.103918C>T p.P34640S Missense 358/363 - 1
2-179397429-C-T c.103913G>A p.R34638H Missense 358/363 - 2
2-179397430-G-A c.103912C>T p.R34638C Missense 358/363 - 4
2-179397432-C-T c.103910G>A p.R34637Q Missense 358/363 - 3
2-179397433-G-A c.103909C>T p.R34637W Missense 358/363 - 1
2-179397435-C-T c.103907G>A p.R34636H Missense 358/363 - 1
2-179397443-TCTCA-T c.103895_103898del p.V34632Dfs*39 Frameshift 358/363 - 1
2-179397450-A-C c.103892T>G p.I34631R Missense 358/363 - 1
2-179397454-C-T c.103888G>A p.E34630K Missense 358/363 - 1
2-179397463-C-T c.103879G>A p.D34627N Missense 358/363 - 2
2-179397471-A-T c.103871T>A p.L34624Q Missense 358/363 - 1
2-179397473-T-C c.103869A>G p.K34623= Synonymous 358/363 - 1
2-179397475-T-G c.103867A>C p.K34623Q Missense 358/363 - 1
2-179397483-C-A c.103859G>T p.R34620L Missense 358/363 - 1
2-179397483-C-T c.103859G>A p.R34620H Missense 358/363 - 1
2-179397484-G-A c.103858C>T p.R34620C Missense 358/363 - 3
2-179397485-C-T c.103857G>A p.W34619* Nonsense 358/363 - 1
2-179397484-GC-G c.103857del p.W34619Cfs*13 Frameshift 358/363 - 1
2-179397486-C-G c.103856G>C p.W34619S Missense 358/363 - 1
2-179397491-TAG-T c.103850_103851del p.P34617Qfs*6 Frameshift 358/363 - 1
2-179397492-G-A c.103850C>T p.P34617L Missense 358/363 - 1
2-179397494-T-G c.103848A>C p.R34616S Missense 358/363 - 1
2-179397494-T-A c.103848A>T p.R34616S Missense 358/363 - 1
2-179397495-C-T c.103847G>A p.R34616K Missense 358/363 - 1
2-179397513-C-T c.103829G>A p.R34610H Missense 358/363 - 3
2-179397514-CG-C c.103828del p.R34610Afs*22 Frameshift 358/363 - 1
2-179397514-G-A c.103828C>T p.R34610C Missense 358/363 - 1
2-179397516-G-A c.103826C>T p.P34609L Missense 358/363 - 1
2-179397517-G-A c.103825C>T p.P34609S Missense 358/363 - 1
2-179397523-G-A c.103819C>T p.P34607S Missense 358/363 - 1
2-179397528-A-C c.103814T>G p.V34605G Missense 358/363 - 1
2-179397538-G-A c.103804C>T p.Q34602* Nonsense 358/363 - 1
2-179397538-G-T c.103804C>A p.Q34602K Missense 358/363 - 1
2-179397541-C-T c.103801G>A p.E34601K Missense 358/363 - 1
2-179397541-C-A c.103801G>T p.E34601* Nonsense 358/363 - 1
2-179397545-AT-A c.103797del p.R34599Sfs*7 Frameshift 358/363 - 1
2-179397547-T-TA c.103794_103795insT p.R34599* Nonsense 358/363 - 1
2-179397556-G-A c.103786C>T p.R34596C Missense 358/363 - 1
2-179397560-G-T c.103782C>A p.R34594= Synonymous 358/363 - 2
2-179397560-G-C c.103782C>G p.R34594= Synonymous 358/363 - 2
2-179397560-G-A c.103782C>T p.R34594= Synonymous 358/363 - 2
2-179397561-C-T c.103781G>A p.R34594H Missense 358/363 - 21
2-179397562-G-A c.103780C>T p.R34594C Missense 358/363 - 1
2-179397569-T-C c.103773A>G p.R34591= Synonymous 358/363 - 1
2-179397570-C-T c.103772G>A p.R34591Q Missense 358/363 - 1
2-179397571-G-A c.103771C>T p.R34591* Nonsense 358/363 - 3
2-179397571-G-T c.103771C>A p.R34591= Synonymous 358/363 - 1
2-179397575-C-A c.103767G>T p.Q34589H Missense 358/363 - 1
2-179397575-C-G c.103767G>C p.Q34589H Missense 358/363 - 1
2-179397577-G-A c.103765C>T p.Q34589* Nonsense 358/363 - 1
2-179397578-T-G c.103764A>C p.V34588= Synonymous 358/363 - 1
2-179397580-C-T c.103762G>A p.V34588I Missense 358/363 - 1
2-179397592-G-A c.103750C>T p.L34584F Missense 358/363 - 1
2-179397600-G-A c.103742C>T p.P34581L Missense 358/363 - 1
2-179397600-G-C c.103742C>G p.P34581R Missense 358/363 - 1
2-179397607-C-T c.103735G>A p.E34579K Missense 358/363 - 1
2-179397610-A-T c.103732T>A p.Y34578N Missense 358/363 - 1
2-179397612-T-C c.103730A>G p.Q34577R Missense 358/363 - 1
2-179397613-G-A c.103729C>T p.Q34577* Nonsense 358/363 - 1
2-179397613-G-C c.103729C>G p.Q34577E Missense 358/363 - 1
2-179397618-C-T c.103724G>A p.R34575H Missense 358/363 - 1
2-179397619-G-A c.103723C>T p.R34575C Missense 358/363 - 3
2-179397619-G-T c.103723C>A p.R34575S Missense 358/363 - 1
2-179397637-T-A c.103705A>T p.K34569* Nonsense 358/363 - 1
2-179397639-A-G c.103703T>C p.M34568T Missense 358/363 - 1
2-179397650-G-A c.103692C>T p.P34564= Synonymous 358/363 - 1
2-179397654-A-G c.103688T>C p.V34563A Missense 358/363 - 3
2-179397655-C-T c.103687G>A p.V34563M Missense 358/363 - 1
2-179397655-C-G c.103687G>C p.V34563L Missense 358/363 - 2
2-179397655-C-A c.103687G>T p.V34563L Missense 358/363 - 2
2-179397658-A-G c.103684T>C p.F34562L Missense 358/363 - 1
2-179397656-G-T c.103686C>A p.F34562L Missense 358/363 - 1
2-179397656-G-C c.103686C>G p.F34562L Missense 358/363 - 1
2-179397661-G-T c.103681C>A p.Q34561K Missense 358/363 - 1
2-179397669-C-T c.103673G>A p.R34558H Missense 358/363 - 2
2-179397670-G-A c.103672C>T p.R34558C Missense 358/363 - 4
2-179397677-T-G c.103665A>C p.E34555D Missense 358/363 - 1
2-179397680-T-G c.103662A>C p.E34554D Missense 358/363 - 1
2-179397684-A-G c.103658T>C p.I34553T Missense 358/363 - 2
2-179397694-TG-T c.103648del p.Q34550Rfs*4 Frameshift 358/363 - 1
2-179397694-G-A c.103648C>T p.Q34550* Nonsense 358/363 - 1
2-179397696-T-C c.103646A>G p.K34549R Missense 358/363 - 1
2-179397705-C-T c.103637G>A p.R34546H Missense 358/363 - 2
2-179397706-G-A c.103636C>T p.R34546C Missense 358/363 - 2
2-179397709-G-T c.103633C>A p.P34545T Missense 358/363 - 1
2-179397714-G-A c.103628C>T p.P34543L Missense 358/363 - 1
2-179397715-G-A c.103627C>T p.P34543S Missense 358/363 - 1
2-179397716-T-G c.103626A>C p.V34542= Synonymous 358/363 - 1
2-179397716-T-C c.103626A>G p.V34542= Synonymous 358/363 - 1
2-179397716-T-A c.103626A>T p.V34542= Synonymous 358/363 - 1
2-179397717-A-G c.103625T>C p.V34542A Missense 358/363 - 1
2-179397726-G-T c.103616C>A p.P34539H Missense 358/363 - 3
2-179397732-C-T c.103610G>A p.R34537Q Missense 358/363 - 4
2-179397733-G-A c.103609C>T p.R34537W Missense 358/363 - 2
2-179397733-G-T c.103609C>A p.R34537= Synonymous 358/363 - 1
2-179397731-C-T c.103611G>A p.R34537= Synonymous 358/363 - 1
2-179397731-C-G c.103611G>C p.R34537= Synonymous 358/363 - 1
2-179397731-C-A c.103611G>T p.R34537= Synonymous 358/363 - 1
2-179397739-T-C c.103603A>G p.K34535E Missense 358/363 - 1
2-179397741-C-T c.103601G>A p.R34534K Missense 358/363 - 1
2-179397742-T-TA c.103599_103600insT p.R34534* Nonsense 358/363 - 1
2-179397743-C-G c.103599G>C p.E34533D Missense 358/363 - 1
2-179397749-C-T c.103593G>A p.K34531= Synonymous 358/363 - 1
2-179397750-T-C c.103592A>G p.K34531R Missense 358/363 - 1
2-179397751-T-C c.103591A>G p.K34531E Missense 358/363 - 1
2-179397751-T-A c.103591A>T p.K34531* Nonsense 358/363 - 1
2-179397753-T-A c.103589A>T p.K34530M Missense 358/363 - 1
2-179397759-T-C c.103583A>G p.E34528G Missense 358/363 - 1
2-179397765-T-A c.103577A>T p.E34526V Missense 358/363 - 1
2-179397769-G-A c.103573C>T p.L34525F Missense 358/363 - 1
2-179397775-A-G c.103567T>C p.F34523L Missense 358/363 - 1
2-179397773-G-T c.103569C>A p.F34523L Missense 358/363 - 1
2-179397773-G-C c.103569C>G p.F34523L Missense 358/363 - 1
2-179397779-C-T c.103563G>A p.G34521= Synonymous 358/363 - 1
2-179397780-C-T c.103562G>A p.G34521E Missense 358/363 - 1
2-179397802-C-T c.103540G>A p.V34514I Missense 358/363 - 1
2-179397804-G-A c.103538C>T p.A34513V Missense 358/363 - 1
2-179397807-G-A c.103535C>T p.P34512L Missense 358/363 - 1
2-179397812-A-T c.103530T>A p.Y34510* Nonsense 358/363 - 2
2-179397812-A-C c.103530T>G p.Y34510* Nonsense 358/363 - 1
2-179397823-C-T c.103519G>A p.A34507T Missense 358/363 - 1
2-179397824-CA-C c.103518del p.A34507Lfs*8 Frameshift 358/363 - 1
2-179397829-C-T c.103513G>A p.E34505K Missense 358/363 - 1
2-179397829-C-A c.103513G>T p.E34505* Nonsense 358/363 - 1
2-179397837-G-A c.103505C>T p.A34502V Missense 358/363 - 1
2-179397838-C-A c.103504G>T p.A34502S Missense 358/363 - 1
2-179397839-C-T c.103503G>A p.E34501= Synonymous 358/363 - 1
2-179397839-C-G c.103503G>C p.E34501D Missense 358/363 - 1
2-179397839-C-A c.103503G>T p.E34501D Missense 358/363 - 1
2-179397847-C-T c.103495G>A p.A34499T Missense 358/363 - 1
2-179397852-T-C c.103490A>G p.Q34497R Missense 358/363 - 1
2-179397856-T-C c.103486A>G p.T34496A Missense 358/363 - 2
2-179397858-A-G c.103484T>C p.L34495P Missense 358/363 - 3
2-179397863-T-G c.103479A>C p.V34493= Synonymous 358/363 - 1
2-179397863-T-C c.103479A>G p.V34493= Synonymous 358/363 - 1
2-179397863-T-A c.103479A>T p.V34493= Synonymous 358/363 - 1
2-179397865-C-T c.103477G>A p.V34493I Missense 358/363 - 1
2-179397865-C-A c.103477G>T p.V34493L Missense 358/363 - 1
2-179397871-C-T c.103471G>A p.E34491K Missense 358/363 - 4
2-179397871-C-G c.103471G>C p.E34491Q Missense 358/363 - 1
2-179397873-G-C c.103469C>G p.T34490S Missense 358/363 - 1
2-179397877-C-T c.103465G>A p.G34489R Missense 358/363 - 3
2-179397877-C-G c.103465G>C p.G34489R Missense 358/363 - 1
2-179397880-A-G c.103462T>C p.S34488P Missense 358/363 - 1
2-179397883-G-T c.103459C>A p.L34487I Missense 358/363 - 3
2-179397887-T-A c.103455A>T p.E34485D Missense 358/363 - 1
2-179397889-C-A c.103453G>T p.E34485* Nonsense 358/363 - 1
2-179397895-T-C c.103447A>G p.M34483V Missense 358/363 - 1
2-179397903-G-A c.103439C>T p.T34480I Missense 358/363 - 1
2-179397908-G-T c.103434C>A p.D34478E Missense 358/363 - 2
2-179397909-T-G c.103433A>C p.D34478A Missense 358/363 - 2
2-179397912-A-G c.103430T>C p.I34477T Missense 358/363 - 2
2-179397916-G-T c.103426C>A p.Q34476K Missense 358/363 - 1
2-179397919-T-C c.103423A>G p.K34475E Missense 358/363 - 1
2-179397922-G-A c.103420C>T p.Q34474* Nonsense 358/363 - 1
2-179397925-C-T c.103417G>A p.V34473I Missense 358/363 - 1
2-179397926-G-C c.103416C>G p.H34472Q Missense 358/363 - 1
2-179397930-C-T c.103412G>A p.R34471Q Missense 358/363 - 4
2-179397931-G-A c.103411C>T p.R34471* Nonsense 358/363 - 1
2-179397940-C-T c.103402G>A p.E34468K Missense 358/363 - 2
2-179397943-C-T c.103399G>A p.E34467K Missense 358/363 - 1
2-179397950-C-G c.103392G>C p.K34464N Missense 358/363 - 1
2-179397958-C-T c.103384G>A p.E34462K Missense 358/363 - 1
2-179397961-G-A c.103381C>T p.Q34461* Nonsense 358/363 - 1
2-179397966-T-G c.103376A>C p.K34459T Missense 358/363 - 1
2-179397968-G-T c.103374C>A p.Y34458* Nonsense 358/363 - 1
2-179397968-G-C c.103374C>G p.Y34458* Nonsense 358/363 - 1
2-179397970-A-G c.103372T>C p.Y34458H Missense 358/363 - 1
2-179397975-A-G c.103367T>C p.L34456P Missense 358/363 - 1
2-179397977-G-T c.103365C>A p.R34455= Synonymous 358/363 - 1
2-179397977-G-C c.103365C>G p.R34455= Synonymous 358/363 - 1
2-179397977-G-A c.103365C>T p.R34455= Synonymous 358/363 - 1
2-179397978-C-T c.103364G>A p.R34455H Missense 358/363 - 1
2-179397979-G-A c.103363C>T p.R34455C Missense 358/363 - 3
2-179397981-TC-T c.103360del p.E34454Nfs*3 Frameshift 358/363 - 4
2-179397985-C-T c.103357G>A p.V34453M Missense 358/363 - 2
2-179397991-G-A c.103351C>T p.L34451= Synonymous 358/363 - 1
2-179397991-G-C c.103351C>G p.L34451V Missense 358/363 - 1
2-179398006-CT-C c.103336del p.S34446Afs*11 Frameshift 358/363 - 1
2-179398008-G-A c.103334C>T p.T34445I Missense 358/363 - 1
2-179398018-C-G c.103324G>C p.A34442P Missense 358/363 - 1
2-179398029-G-A c.103313C>T p.A34438V Missense 358/363 - 1
2-179398040-A-G c.103302T>C p.Y34434= Synonymous 358/363 - 1
2-179398047-C-T c.103295G>A p.G34432D Missense 358/363 - 1
2-179398049-C-T c.103293G>A p.T34431= Synonymous 358/363 - 1
2-179398049-C-A c.103293G>T p.T34431= Synonymous 358/363 - 1
2-179398049-C-G c.103293G>C p.T34431= Synonymous 358/363 - 1
2-179398050-G-A c.103292C>T p.T34431M Missense 358/363 - 3
2-179398054-C-G c.103288G>C p.D34430H Missense 358/363 - 1
2-179398054-C-A c.103288G>T p.D34430Y Missense 358/363 - 1
2-179398057-C-A c.103285G>T p.E34429* Nonsense 358/363 - 1
2-179398062-A-G c.103280T>C p.L34427S Missense 358/363 - 1
2-179398065-G-A c.103277C>T p.T34426I Missense 358/363 - 1
2-179398071-C-T c.103271G>A p.R34424K Missense 358/363 - 1
2-179398075-T-C c.103267A>G p.I34423V Missense 358/363 - 1
2-179398087-A-T c.103255T>A p.Y34419N Missense 358/363 - 1
2-179398099-C-T c.103243G>A p.G34415S Missense 358/363 - 1
2-179398099-C-G c.103243G>C p.G34415R Missense 358/363 - 2
2-179398100-T-G c.103242A>C p.E34414D Missense 358/363 - 1
2-179398100-T-A c.103242A>T p.E34414D Missense 358/363 - 1
2-179398110-A-T c.103232T>A p.I34411N Missense 358/363 - 2
2-179398114-C-T c.103228G>A p.E34410K Missense 358/363 - 2
2-179398118-G-A c.103224C>T p.N34408= Synonymous 358/363 - 2
2-179398121-A-C c.103221T>G p.P34407= Synonymous 358/363 - 1
2-179398121-A-T c.103221T>A p.P34407= Synonymous 358/363 - 1
2-179398121-A-G c.103221T>C p.P34407= Synonymous 358/363 - 1
2-179398123-G-A c.103219C>T p.P34407S Missense 358/363 - 1
2-179398125-C-T c.103217G>A p.G34406E Missense 358/363 - 1
2-179398126-C-T c.103216G>A p.G34406R Missense 358/363 - 3
2-179398126-C-A c.103216G>T p.G34406W Missense 358/363 - 1
2-179398129-G-A c.103213C>T p.L34405F Missense 358/363 - 1
2-179398135-G-C c.103207C>G p.L34403V Missense 358/363 - 1
2-179398152-TC-T c.103189del p.E34397Rfs*60 Frameshift 358/363 - 1
2-179398164-G-A c.103178C>T p.T34393I Missense 358/363 - 2
2-179398165-T-A c.103177A>T p.T34393S Missense 358/363 - 1
2-179398168-G-A c.103174C>T p.P34392S Missense 358/363 - 1
2-179398170-G-T c.103172C>A p.P34391Q Missense 358/363 - 2
2-179398170-G-C c.103172C>G p.P34391R Missense 358/363 - 1
2-179398179-C-T c.103163G>A p.G34388D Missense 358/363 - 1
2-179398188-C-T c.103154G>A p.R34385K Missense 358/363 - 1
2-179398188-C-A c.103154G>T p.R34385I Missense 358/363 - 1
2-179398189-T-TA c.103152_103153insT p.R34385* Nonsense 358/363 - 1
2-179398193-C-G c.103149G>C p.E34383D Missense 358/363 - 1
2-179398193-C-A c.103149G>T p.E34383D Missense 358/363 - 1
2-179398195-C-G c.103147G>C p.E34383Q Missense 358/363 - 2
2-179398197-A-G c.103145T>C p.F34382S Missense 358/363 - 2
2-179398216-C-A c.103126G>T p.E34376* Nonsense 358/363 - 1
2-179398225-C-T c.103117G>A p.E34373K Missense 358/363 - 1
2-179398233-G-T c.103109C>A p.A34370E Missense 358/363 - 1
2-179398239-A-C c.103103T>G p.L34368* Nonsense 358/363 - 1
2-179398243-T-C c.103099A>G p.R34367G Missense 358/363 - 1
2-179398251-A-G c.103091T>C p.M34364T Missense 358/363 - 1
2-179398252-T-G c.103090A>C p.M34364L Missense 358/363 - 1
2-179398252-T-A c.103090A>T p.M34364L Missense 358/363 - 1
2-179398254-G-C c.103088C>G p.P34363R Missense 358/363 - 1
2-179398255-G-A c.103087C>T p.P34363S Missense 358/363 - 1
2-179398257-C-G c.103085G>C p.R34362T Missense 358/363 - 1
2-179398266-C-T c.103076G>A p.S34359N Missense 358/363 - 1
2-179398268-A-C c.103074T>G p.D34358E Missense 358/363 - 1
2-179398276-G-T c.103066C>A p.P34356T Missense 358/363 - 1
2-179398282-G-A c.103060C>T p.P34354S Missense 358/363 - 1
2-179398288-G-T c.103054C>A p.L34352I Missense 358/363 - 3
2-179398289-G-A c.103053C>T p.T34351= Synonymous 358/363 - 1
2-179398290-G-A c.103052C>T p.T34351I Missense 358/363 - 1
2-179398293-A-T c.103049T>A p.V34350E Missense 358/363 - 1
2-179398313-G-T c.103029C>A p.S34343R Missense 358/363 - 1
2-179398316-G-C c.103026C>G p.D34342E Missense 358/363 - 2
2-179398316-G-T c.103026C>A p.D34342E Missense 358/363 - 1
2-179398319-T-G c.103023A>C p.E34341D Missense 358/363 - 1
2-179398321-C-T c.103021G>A p.E34341K Missense 358/363 - 1
2-179398323-C-G c.103019G>C p.G34340A Missense 358/363 - 1
2-179398334-C-T c.103008G>A p.R34336= Synonymous 358/363 - 1
2-179398336-T-G c.103006A>C p.R34336= Synonymous 358/363 - 1
2-179398347-G-A c.102995C>T p.T34332I Missense 358/363 - 2
2-179398348-T-C c.102994A>G p.T34332A Missense 358/363 - 1
2-179398350-T-C c.102992A>G p.Y34331C Missense 358/363 - 1
2-179398351-A-G c.102991T>C p.Y34331H Missense 358/363 - 1
2-179398356-G-A c.102986C>T p.A34329V Missense 358/363 - 1
2-179398357-C-T c.102985G>A p.A34329T Missense 358/363 - 1
2-179398357-C-G c.102985G>C p.A34329P Missense 358/363 - 1
2-179398371-G-T c.102971C>A p.T34324N Missense 358/363 - 1
2-179398376-A-T c.102966T>A p.S34322R Missense 358/363 - 1
2-179398377-C-T c.102965G>A p.S34322N Missense 358/363 - 1
2-179398383-AT-A c.102958del p.I34320Sfs*29 Frameshift 358/363 - 1
2-179398386-G-A c.102956C>T p.T34319I Missense 358/363 - 1
2-179398383-ATTG-A c.102956_102958del p.T34319del InFrameDeletion 358/363 - 2
2-179398387-T-C c.102955A>G p.T34319A Missense 358/363 - 3
2-179398388-T-A c.102954A>T p.L34318F Missense 358/363 - 1
2-179398392-T-C c.102950A>G p.Q34317R Missense 358/363 - 3
2-179398393-G-A c.102949C>T p.Q34317* Nonsense 358/363 - 2
2-179398398-A-G c.102944T>C p.L34315P Missense 358/363 - 1
2-179398401-C-T c.102941G>A p.G34314D Missense 358/363 - 1
2-179398402-C-G c.102940G>C p.G34314R Missense 358/363 - 1
2-179398404-T-G c.102938A>C p.K34313T Missense 358/363 - 1
2-179398406-G-T c.102936C>A p.D34312E Missense 358/363 - 1
2-179398414-C-T c.102928G>A p.E34310K Missense 358/363 - 1
2-179398417-A-T c.102925T>A p.F34309I Missense 358/363 - 1
2-179398422-T-G c.102920A>C p.Y34307S Missense 358/363 - 1
2-179398423-A-T c.102919T>A p.Y34307N Missense 358/363 - 2
2-179398426-T-A c.102916A>T p.K34306* Nonsense 358/363 - 1
2-179398423-ACTT-A c.102916_102918del p.K34306del InFrameDeletion 358/363 - 1
2-179398438-C-T c.102904G>A p.D34302N Missense 358/363 - 1
2-179398439-A-T c.102903T>A p.G34301= Synonymous 358/363 - 1
2-179398451-T-G c.102891A>C p.K34297N Missense 358/363 - 1
2-179398465-T-C c.102877A>G p.K34293E Missense 358/363 - 4
2-179398470-C-T c.102872G>A p.W34291* Nonsense 358/363 - 1
2-179398469-C-T c.102873G>A p.W34291* Nonsense 358/363 - 1
2-179398471-A-T c.102871T>A p.W34291R Missense 358/363 - 1
2-179398471-A-G c.102871T>C p.W34291R Missense 358/363 - 1
2-179398476-A-G c.102866T>C p.V34289A Missense 358/363 - 1
2-179398477-C-T c.102865G>A p.V34289I Missense 358/363 - 1
2-179398483-G-A c.102859C>T p.P34287S Missense 358/363 - 1
2-179398484-C-G c.102858G>C p.E34286D Missense 358/363 - 1
2-179398484-C-A c.102858G>T p.E34286D Missense 358/363 - 1
2-179398486-C-A c.102856G>T p.E34286* Nonsense 358/363 - 1
2-179398489-G-A c.102853C>T p.P34285S Missense 358/363 - 4
2-179398500-A-G c.102842T>C p.I34281T Missense 358/363 - 2
2-179398502-AG-CA c.102839_102840delinsTG p.T34280M Missense 358/363 - 1
2-179398503-G-A c.102839C>T p.T34280I Missense 358/363 - 1
2-179398506-A-T c.102836T>A p.V34279E Missense 358/363 - 2
2-179398507-C-T c.102835G>A p.V34279I Missense 358/363 - 1
2-179398508-T-A c.102834A>T p.G34278= Synonymous 358/363 - 1
2-179398508-T-C c.102834A>G p.G34278= Synonymous 358/363 - 1
2-179398508-T-G c.102834A>C p.G34278= Synonymous 358/363 - 1
2-179398509-C-A c.102833G>T p.G34278V Missense 358/363 - 12
2-179398515-C-T c.102827G>A p.R34276Q Missense 358/363 - 1
2-179398516-G-A c.102826C>T p.R34276W Missense 358/363 - 5
2-179398519-C-T c.102823G>A p.V34275I Missense 358/363 - 1
2-179398523-T-G c.102819A>C p.E34273D Missense 358/363 - 1
2-179398523-T-A c.102819A>T p.E34273D Missense 358/363 - 1
2-179398531-C-A c.102811G>T p.V34271L Missense 358/363 - 1
2-179398533-T-G c.102809A>C p.Y34270S Missense 358/363 - 1
2-179398537-C-T c.102805G>A p.A34269T Missense 358/363 - 1
2-179398543-T-C c.102799A>G p.K34267E Missense 358/363 - 1
2-179398544-A-G c.102798T>C p.N34266= Synonymous 358/363 - 1
2-179398541-CTTA-C c.102798_102800del p.N34266del InFrameDeletion 358/363 - 1
2-179398546-T-C c.102796A>G p.N34266D Missense 358/363 - 1
2-179398560-G-T c.102782C>A p.T34261N Missense 358/363 - 2
2-179398561-T-G c.102781A>C p.T34261P Missense 358/363 - 1
2-179398565-T-C c.102777A>G p.E34259= Synonymous 358/363 - 1
2-179398567-C-G c.102775G>C p.E34259Q Missense 358/363 - 1
2-179398567-C-A c.102775G>T p.E34259* Nonsense 358/363 - 1
2-179398570-G-T c.102772C>A p.P34258T Missense 358/363 - 2
2-179398570-G-A c.102772C>T p.P34258S Missense 358/363 - 1
2-179398574-C-T c.102768G>A p.R34256= Synonymous 358/363 - 1
2-179398580-C-A c.102762G>T p.L34254= Synonymous 358/363 - 1
2-179398581-A-G c.102761T>C p.L34254P Missense 358/363 - 1
2-179398585-G-C c.102757C>G p.L34253V Missense 358/363 - 1
2-179398591-T-C c.102751A>G p.M34251V Missense 358/363 - 3
2-179398605-C-T c.102737G>A p.R34246H Missense 358/363 - 2
2-179398606-G-A c.102736C>T p.R34246C Missense 358/363 - 3
2-179398617-T-C c.102725A>G p.K34242R Missense 358/363 - 1
2-179398623-GGT-G c.102718_102719del p.T34240Hfs*5 Frameshift 358/363 - 1
2-179398624-T-G c.102718A>C p.T34240P Missense 358/363 - 1
2-179398629-C-T c.102713G>A p.R34238H Missense 358/363 - 1
2-179398630-G-A c.102712C>T p.R34238C Missense 358/363 - 5
2-179398642-C-T c.102700G>A p.D34234N Missense 358/363 - 1
2-179398648-C-T c.102694G>A p.V34232I Missense 358/363 - 2
2-179398651-C-T c.102691G>A p.E34231K Missense 358/363 - 2
2-179398653-C-T c.102689G>A p.R34230K Missense 358/363 - 1
2-179398660-C-A c.102682G>T p.G34228C Missense 358/363 - 1
2-179398662-T-A c.102680A>T p.K34227I Missense 358/363 - 1
2-179398671-A-T c.102671T>A p.L34224Q Missense 358/363 - 1
2-179398677-G-A c.102665C>T p.A34222V Missense 358/363 - 1
2-179398684-A-C c.102658T>G p.S34220A Missense 358/363 - 1
2-179398695-C-T c.102647G>A p.G34216D Missense 358/363 - 1
2-179398704-T-C c.102638A>G p.N34213S Missense 358/363 - 3
2-179398725-G-A c.102617C>T p.T34206I Missense 358/363 - 1
2-179398728-C-T c.102614G>A p.G34205D Missense 358/363 - 1
2-179398737-A-G c.102605T>C p.L34202S Missense 358/363 - 1
2-179398747-T-C c.102595A>G p.I34199V Missense 358/363 - 4
2-179398748-G-C c.102594C>G p.D34198E Missense 358/363 - 1
2-179398748-G-T c.102594C>A p.D34198E Missense 358/363 - 1
2-179398749-T-C c.102593A>G p.D34198G Missense 358/363 - 1
2-179398762-G-T c.102580C>A p.L34194I Missense 358/363 - 1
2-179398766-TGGC-T c.102574_102576del p.A34192del InFrameDeletion 358/363 - 1
2-179398767-G-A c.102575C>T p.A34192V Missense 358/363 - 1
2-179398768-C-T c.102574G>A p.A34192T Missense 358/363 - 1
2-179398770-CA-C c.102572del p.V34191Gfs*12 Frameshift 358/363 - 1
2-179398777-C-G c.102565G>C p.D34189H Missense 358/363 - 1
2-179398780-C-T c.102562G>A p.E34188K Missense 358/363 - 1
2-179398781-G-T c.102561C>A p.Y34187* Nonsense 358/363 - 1
2-179398782-T-C c.102560A>G p.Y34187C Missense 358/363 - 1
2-179398791-T-G c.102551A>C p.E34184A Missense 358/363 - 1
2-179398792-C-T c.102550G>A p.E34184K Missense 358/363 - 5
2-179398793-G-A c.102549C>T p.Y34183= Synonymous 358/363 - 2
2-179398795-A-G c.102547T>C p.Y34183H Missense 358/363 - 1
2-179398803-C-T c.102539G>A p.S34180N Missense 358/363 - 1
2-179398810-C-G c.102532G>C p.E34178Q Missense 358/363 - 1
2-179398818-C-T c.102524G>A p.R34175Q Missense 358/363 - 1
2-179398819-G-A c.102523C>T p.R34175* Nonsense 358/363 - 7
2-179398819-G-C c.102523C>G p.R34175G Missense 358/363 - 1
2-179398820-G-T c.102522C>A p.V34174= Synonymous 358/363 - 1
2-179398820-G-C c.102522C>G p.V34174= Synonymous 358/363 - 1
2-179398820-G-A c.102522C>T p.V34174= Synonymous 358/363 - 1
2-179398823-G-A c.102519C>T p.G34173= Synonymous 358/363 - 13
2-179398823-GC-CT c.102518_102519delinsAG p.G34173E Missense 358/363 - 2
2-179398823-G-C c.102519C>G p.G34173= Synonymous 358/363 - 3
2-179398823-G-T c.102519C>A p.G34173= Synonymous 358/363 - 3
2-179398824-C-T c.102518G>A p.G34173D Missense 358/363 - 5
2-179398845-G-C c.102497C>G p.T34166S Missense 358/363 - 1
2-179398858-A-G c.102484T>C p.Y34162H Missense 358/363 - 1
2-179398861-T-A c.102481A>T p.N34161Y Missense 358/363 - 1
2-179398872-C-T c.102470G>A p.C34157Y Missense 358/363 - 1
2-179398873-A-T c.102469T>A p.C34157S Missense 358/363 - 1
2-179398872-C-G c.102470G>C p.C34157S Missense 358/363 - 1
2-179398881-T-G c.102461A>C p.K34154T Missense 358/363 - 1
2-179398886-A-T c.102456T>A p.H34152Q Missense 358/363 - 1
2-179398887-T-A c.102455A>T p.H34152L Missense 358/363 - 1
2-179398893-C-T c.102449G>A p.G34150E Missense 358/363 - 1
2-179398896-T-G c.102446A>C p.E34149A Missense 358/363 - 1
2-179398900-C-T c.102442G>A p.E34148K Missense 358/363 - 2
2-179398902-C-A c.102440G>T p.G34147V Missense 358/363 - 1
2-179398912-G-T c.102430C>A p.H34144N Missense 358/363 - 1
2-179398914-A-G c.102428T>C p.M34143T Missense 358/363 - 2
2-179398919-C-A c.102423G>T p.Q34141H Missense 358/363 - 1
2-179398921-GC-G c.102420del p.Q34141Rfs*2 Frameshift 358/363 - 1
2-179398929-A-G c.102413T>C p.V34138A Missense 358/363 - 1
2-179398941-T-A c.102401A>T p.E34134V Missense 358/363 - 1
2-179398942-C-T c.102400G>A p.E34134K Missense 358/363 - 1
2-179398944-A-G c.102398T>C p.I34133T Missense 358/363 - 1
2-179398948-A-G c.102394T>C p.S34132P Missense 358/363 - 1
2-179398948-A-T c.102394T>A p.S34132T Missense 358/363 - 1
2-179398965-G-A c.102377C>T p.A34126V Missense 358/363 - 2
2-179398969-C-T c.102373G>A p.V34125I Missense 358/363 - 1
2-179398978-C-A c.102364G>T p.G34122* Nonsense 358/363 - 2
2-179398978-C-T c.102364G>A p.G34122R Missense 358/363 - 2
2-179398980-T-C c.102362A>G p.K34121R Missense 358/363 - 2
2-179398981-T-C c.102361A>G p.K34121E Missense 358/363 - 1
2-179398989-C-A c.102353G>T p.R34118L Missense 358/363 - 1
2-179398989-C-T c.102353G>A p.R34118Q Missense 358/363 - 1
2-179398990-G-A c.102352C>T p.R34118* Nonsense 358/363 - 1
2-179399008-A-T c.102334T>A p.S34112T Missense 358/363 - 1
2-179399013-C-T c.102329G>A p.R34110Q Missense 358/363 - 2
2-179399014-G-A c.102328C>T p.R34110W Missense 358/363 - 2
2-179399016-G-A c.102326C>T p.A34109V Missense 358/363 - 1
2-179399017-C-T c.102325G>A p.A34109T Missense 358/363 - 2
2-179399018-T-G c.102324A>C p.A34108= Synonymous 358/363 - 1
2-179399018-T-C c.102324A>G p.A34108= Synonymous 358/363 - 1
2-179399018-T-A c.102324A>T p.A34108= Synonymous 358/363 - 1
2-179399026-C-T c.102316G>A p.V34106M Missense 358/363 - 1
2-179399029-C-T c.102313G>A p.V34105I Missense 358/363 - 1
2-179399034-T-A c.102308A>T p.N34103I Missense 358/363 - 1
2-179399034-T-C c.102308A>G p.N34103S Missense 358/363 - 2
2-179399038-G-A c.102304C>T p.L34102F Missense 358/363 - 1
2-179399041-C-T c.102301G>A p.D34101N Missense 358/363 - 1
2-179399048-G-C c.102294C>G p.I34098M Missense 358/363 - 1
2-179399049-A-T c.102293T>A p.I34098N Missense 358/363 - 1
2-179399055-G-A c.102287C>T p.T34096I Missense 358/363 - 1
2-179399058-T-G c.102284A>C p.H34095P Missense 358/363 - 2
2-179399061-T-G c.102281A>C p.Y34094S Missense 358/363 - 1
2-179399065-A-G c.102277T>C p.Y34093H Missense 358/363 - 1
2-179399067-C-T c.102275G>A p.R34092H Missense 358/363 - 5
2-179399068-G-A c.102274C>T p.R34092C Missense 358/363 - 1
2-179399069-C-T c.102273G>A p.R34091= Synonymous 358/363 - 1
2-179399070-C-T c.102272G>A p.R34091Q Missense 358/363 - 1
2-179399071-G-A c.102271C>T p.R34091W Missense 358/363 - 5
2-179399085-C-G c.102257G>C p.R34086T Missense 358/363 - 2
2-179399087-G-C c.102255C>G p.I34085M Missense 358/363 - 1
2-179399092-C-T c.102250G>A p.V34084I Missense 358/363 - 1
2-179399097-G-T c.102245C>A p.T34082N Missense 358/363 - 1
2-179399101-T-C c.102241A>G p.S34081G Missense 358/363 - 1
2-179399102-G-T c.102240C>A p.V34080= Synonymous 358/363 - 1
2-179399102-G-C c.102240C>G p.V34080= Synonymous 358/363 - 1
2-179399102-G-A c.102240C>T p.V34080= Synonymous 358/363 - 1
2-179399104-C-G c.102238G>C p.V34080L Missense 358/363 - 1
2-179399107-T-TA c.102234_102235insT p.R34079* Nonsense 358/363 - 1
2-179399109-T-A c.102233A>T p.E34078V Missense 358/363 - 1
2-179399110-C-T c.102232G>A p.E34078K Missense 358/363 - 1
2-179399110-C-G c.102232G>C p.E34078Q Missense 358/363 - 1
2-179399119-G-A c.102223C>T p.Q34075* Nonsense 358/363 - 1
2-179399119-G-C c.102223C>G p.Q34075E Missense 358/363 - 1
2-179399125-A-T c.102217T>A p.L34073M Missense 358/363 - 1
2-179399128-A-T c.102214T>A p.W34072R Missense 358/363 - 5
2-179399128-A-G c.102214T>C p.W34072R Missense 358/363 - 11
2-179399135-C-T c.102207G>A p.Q34069= Synonymous 358/363 - 1
2-179399136-T-C c.102206A>G p.Q34069R Missense 358/363 - 1
2-179399137-G-C c.102205C>G p.Q34069E Missense 358/363 - 1
2-179399143-C-T c.102199G>A p.A34067T Missense 358/363 - 1
2-179399145-T-C c.102197A>G p.E34066G Missense 358/363 - 1
2-179399146-C-T c.102196G>A p.E34066K Missense 358/363 - 2
2-179399147-C-T c.102195G>A p.S34065= Synonymous 358/363 - 1
2-179399148-G-A c.102194C>T p.S34065L Missense 358/363 - 3
2-179399151-G-C c.102191C>G p.A34064G Missense 358/363 - 1
2-179399151-G-A c.102191C>T p.A34064V Missense 358/363 - 2
2-179399152-C-T c.102190G>A p.A34064T Missense 358/363 - 1
2-179399156-C-A c.102186G>T p.M34062I Missense 358/363 - 1
2-179399157-A-T c.102185T>A p.M34062K Missense 358/363 - 1
2-179399157-A-C c.102185T>G p.M34062R Missense 358/363 - 1
2-179399159-G-A c.102183C>T p.R34061= Synonymous 358/363 - 1
2-179399160-C-T c.102182G>A p.R34061H Missense 358/363 - 1
2-179399161-G-A c.102181C>T p.R34061C Missense 358/363 - 2
2-179399169-C-T c.102173G>A p.R34058K Missense 358/363 - 2
2-179399173-C-T c.102169G>A p.E34057K Missense 358/363 - 1
2-179399173-C-G c.102169G>C p.E34057Q Missense 358/363 - 1
2-179399178-A-G c.102164T>C p.V34055A Missense 358/363 - 1
2-179399187-C-T c.102155G>A p.R34052Q Missense 358/363 - 3
2-179399188-G-A c.102154C>T p.R34052W Missense 358/363 - 1
2-179399194-C-T c.102148G>A p.V34050I Missense 358/363 - 4
2-179399200-C-T c.102142G>A p.D34048N Missense 358/363 - 1
2-179399201-C-G c.102141G>C p.M34047I Missense 358/363 - 2
2-179399201-C-T c.102141G>A p.M34047I Missense 358/363 - 2
2-179399201-C-A c.102141G>T p.M34047I Missense 358/363 - 2
2-179399205-G-C c.102137C>G p.A34046G Missense 358/363 - 1
2-179399210-A-G c.102132T>C p.I34044= Synonymous 358/363 - 1
2-179399210-A-T c.102132T>A p.I34044= Synonymous 358/363 - 1
2-179399212-T-A c.102130A>T p.I34044F Missense 358/363 - 2
2-179399218-T-G c.102124A>C p.I34042L Missense 358/363 - 1
2-179399221-C-T c.102121G>A p.E34041K Missense 358/363 - 2
2-179399226-A-G c.102116T>C p.F34039S Missense 358/363 - 1
2-179399237-A-T c.102105T>A p.D34035E Missense 358/363 - 1
2-179399239-C-G c.102103G>C p.D34035H Missense 358/363 - 2
2-179399239-C-T c.102103G>A p.D34035N Missense 358/363 - 2
2-179399240-G-A c.102102C>T p.F34034= Synonymous 358/363 - 2
2-179399244-G-A c.102098C>T p.T34033I Missense 358/363 - 1
2-179399254-C-T c.102088G>A p.A34030T Missense 358/363 - 1
2-179399264-A-G c.102078T>C p.N34026= Synonymous 358/363 - 1
2-179399265-T-C c.102077A>G p.N34026S Missense 358/363 - 1
2-179399269-C-G c.102073G>C p.E34025Q Missense 358/363 - 1
2-179399271-A-G c.102071T>C p.I34024T Missense 358/363 - 1
2-179399272-T-A c.102070A>T p.I34024F Missense 358/363 - 1
2-179399273-G-C c.102069C>G p.I34023M Missense 358/363 - 1
2-179399274-A-T c.102068T>A p.I34023N Missense 358/363 - 1
2-179399277-T-G c.102065A>C p.Q34022P Missense 358/363 - 1
2-179399278-G-C c.102064C>G p.Q34022E Missense 358/363 - 1
2-179399281-G-C c.102061C>G p.Q34021E Missense 358/363 - 1
2-179399281-G-A c.102061C>T p.Q34021* Nonsense 358/363 - 2
2-179399281-G-T c.102061C>A p.Q34021K Missense 358/363 - 1
2-179399282-G-A c.102060C>T p.N34020= Synonymous 358/363 - 1
2-179399282-GT-G c.102059del p.N34020Tfs*9 Frameshift 358/363 - 3
2-179399285-TA-T c.102057del p.N34020Tfs*9 Frameshift 358/363 - 1
2-179399286-G-A c.102056C>T p.T34019I Missense 358/363 - 1
2-179399296-G-A c.102046C>T p.L34016= Synonymous 358/363 - 1
2-179399302-G-T c.102040C>A p.P34014T Missense 358/363 - 1
2-179399346-C-T c.101996G>A p.W33999* Nonsense 358/363 - 5
2-179399351-G-C c.101991C>G p.D33997E Missense 358/363 - 1
2-179399351-G-T c.101991C>A p.D33997E Missense 358/363 - 1
2-179399355-G-A c.101987C>T p.T33996I Missense 358/363 - 1
2-179399358-G-T c.101984C>A p.A33995D Missense 358/363 - 1
2-179399359-C-T c.101983G>A p.A33995T Missense 358/363 - 1
2-179399361-G-T c.101981C>A p.T33994K Missense 358/363 - 1
2-179399362-T-G c.101980A>C p.T33994P Missense 358/363 - 1
2-179399371-C-T c.101971G>A p.V33991I Missense 358/363 - 1
2-179399373-T-C c.101969A>G p.D33990G Missense 358/363 - 1
2-179399374-C-T c.101968G>A p.D33990N Missense 358/363 - 1
2-179399389-C-G c.101953G>C p.E33985Q Missense 358/363 - 2
2-179399398-A-T c.101944T>A p.Y33982N Missense 358/363 - 1
2-179399398-A-G c.101944T>C p.Y33982H Missense 358/363 - 1
2-179399399-G-T c.101943C>A p.Y33981* Nonsense 358/363 - 1
2-179399406-G-C c.101936C>G p.P33979R Missense 358/363 - 2
2-179399416-A-G c.101926T>C p.F33976L Missense 358/363 - 1
2-179399418-A-G c.101924T>C p.L33975P Missense 358/363 - 1
2-179399419-G-T c.101923C>A p.L33975I Missense 358/363 - 1
2-179399429-G-A c.101913C>T p.N33971= Synonymous 358/363 - 1
2-179399451-C-T c.101891G>A p.R33964H Missense 358/363 - 7
2-179399467-C-T c.101875G>A p.E33959K Missense 358/363 - 2
2-179399471-G-A c.101871C>T p.I33957= Synonymous 358/363 - 1
2-179399484-G-C c.101858C>G p.S33953C Missense 358/363 - 1
2-179399484-G-A c.101858C>T p.S33953F Missense 358/363 - 1
2-179399494-T-C c.101848A>G p.R33950G Missense 358/363 - 1
2-179399497-T-A c.101845A>T p.T33949S Missense 358/363 - 1
2-179399510-A-C c.101832T>G p.N33944K Missense 358/363 - 2
2-179399510-A-T c.101832T>A p.N33944K Missense 358/363 - 2
2-179399515-C-A c.101827G>T p.E33943* Nonsense 358/363 - 2
2-179399520-C-T c.101822G>A p.R33941K Missense 358/363 - 1
2-179399520-C-G c.101822G>C p.R33941T Missense 358/363 - 1
2-179399522-AATGTCAAAGTGTCCAATATT-A c.101800_101819del p.N33934* Frameshift 358/363 - 1
2-179399533-G-A c.101809C>T p.H33937Y Missense 358/363 - 1
2-179399534-T-G c.101808A>C p.G33936= Synonymous 358/363 - 1
2-179399539-T-C c.101803A>G p.I33935V Missense 358/363 - 4
2-179399544-T-C c.101798A>G p.H33933R Missense 358/363 - 1
2-179399559-T-C c.101783A>G p.Q33928R Missense 358/363 - 1
2-179399563-G-A c.101779C>T p.L33927F Missense 358/363 - 1
2-179399568-T-G c.101774A>C p.E33925A Missense 358/363 - 1
2-179399576-C-G c.101766G>C p.Q33922H Missense 358/363 - 11
2-179399576-C-A c.101766G>T p.Q33922H Missense 358/363 - 2
2-179399579-G-A c.101763C>T p.H33921= Synonymous 358/363 - 1
2-179399583-A-T c.101759T>A p.V33920D Missense 358/363 - 1
2-179399586-T-G c.101756A>C p.Y33919S Missense 358/363 - 1
2-179399588-A-C c.101754T>G p.S33918R Missense 358/363 - 2
2-179399588-A-T c.101754T>A p.S33918R Missense 358/363 - 1
2-179399590-T-G c.101752A>C p.S33918R Missense 358/363 - 1
2-179399593-C-T c.101749G>A p.V33917I Missense 358/363 - 1
2-179399595-AT-A c.101746del p.I33916Lfs*2 Frameshift 358/363 - 1
2-179399605-C-T c.101737G>A p.E33913K Missense 358/363 - 1
2-179399607-T-C c.101735A>G p.N33912S Missense 358/363 - 1
2-179399614-C-T c.101728G>A p.E33910K Missense 358/363 - 1
2-179399614-C-A c.101728G>T p.E33910* Nonsense 358/363 - 1
2-179399620-C-T c.101722G>A p.A33908T Missense 358/363 - 1
2-179399622-C-T c.101720G>A p.S33907N Missense 358/363 - 1
2-179399625-G-A c.101717C>T p.T33906I Missense 358/363 - 1
2-179399626-T-C c.101716A>G p.T33906A Missense 358/363 - 1
2-179399634-C-T c.101708G>A p.R33903H Missense 358/363 - 5
2-179399634-C-A c.101708G>T p.R33903L Missense 358/363 - 1
2-179399635-G-A c.101707C>T p.R33903C Missense 358/363 - 1
2-179399637-T-A c.101705A>T p.E33902V Missense 358/363 - 1
2-179399646-T-C c.101696A>G p.D33899G Missense 358/363 - 1
2-179399648-A-G c.101694T>C p.L33898= Synonymous 358/363 - 1
2-179399650-G-A c.101692C>T p.L33898F Missense 358/363 - 2
2-179399655-G-T c.101687C>A p.S33896* Nonsense 358/363 - 1
2-179399658-A-G c.101684T>C p.I33895T Missense 358/363 - 1
2-179399661-A-T c.101681T>A p.F33894Y Missense 358/363 - 1
2-179399662-A-T c.101680T>A p.F33894I Missense 358/363 - 1
2-179399663-C-T c.101679G>A p.E33893= Synonymous 358/363 - 1
2-179399663-C-G c.101679G>C p.E33893D Missense 358/363 - 1
2-179399673-A-G c.101669T>C p.M33890T Missense 358/363 - 1
2-179399677-C-T c.101665G>A p.V33889I Missense 358/363 - 5
2-179399683-C-T c.101659G>A p.E33887K Missense 358/363 - 1
2-179399685-T-A c.101657A>T p.E33886V Missense 358/363 - 4
2-179399687-C-T c.101655G>A p.M33885I Missense 358/363 - 1
2-179399690-G-C c.101652C>G p.S33884R Missense 358/363 - 1
2-179399700-G-A c.101642C>T p.S33881L Missense 358/363 - 1
2-179399704-C-A c.101638G>T p.E33880* Nonsense 358/363 - 1
2-179399726-A-G c.101616T>C p.H33872= Synonymous 358/363 - 1
2-179399734-C-T c.101608G>A p.A33870T Missense 358/363 - 1
2-179399736-A-G c.101606T>C p.I33869T Missense 358/363 - 1
2-179399740-T-C c.101602A>G p.N33868D Missense 358/363 - 1
2-179399743-G-C c.101599C>G p.L33867V Missense 358/363 - 4
2-179399739-TTCAGAATGGAAATTTCCTTCTTTACCAAAACCTGA-T c.101568_101602del p.D33856Efs*4 Frameshift 358/363 - 1
2-179399748-G-A c.101594C>T p.S33865F Missense 358/363 - 1
2-179399755-C-T c.101587G>A p.E33863K Missense 358/363 - 1
2-179399756-C-A c.101586G>T p.K33862N Missense 358/363 - 1
2-179399776-C-CA c.101565dup p.D33856* Nonsense 358/363 - 1
2-179399778-G-T c.101564C>A p.T33855N Missense 358/363 - 2
2-179399790-T-G c.101552A>C p.K33851T Missense 358/363 - 1
2-179399796-A-G c.101546T>C p.F33849S Missense 358/363 - 1
2-179399798-T-G c.101544A>C p.K33848N Missense 358/363 - 2
2-179399798-T-A c.101544A>T p.K33848N Missense 358/363 - 1
2-179399802-G-A c.101540C>T p.A33847V Missense 358/363 - 1
2-179399808-T-A c.101534A>T p.Y33845F Missense 358/363 - 2
2-179399808-T-C c.101534A>G p.Y33845C Missense 358/363 - 1
2-179399811-G-A c.101531C>T p.T33844I Missense 358/363 - 1
2-179399813-C-G c.101529G>C p.K33843N Missense 358/363 - 1
2-179399814-T-C c.101528A>G p.K33843R Missense 358/363 - 1
2-179399830-C-T c.101512G>A p.E33838K Missense 358/363 - 3
2-179399830-C-G c.101512G>C p.E33838Q Missense 358/363 - 1
2-179399833-C-T c.101509G>A p.V33837I Missense 358/363 - 1
2-179399834-A-G c.101508T>C p.C33836= Synonymous 358/363 - 1
2-179399838-C-T c.101504G>A p.R33835H Missense 358/363 - 1
2-179399840-A-G c.101502T>C p.H33834= Synonymous 358/363 - 1
2-179399842-G-A c.101500C>T p.H33834Y Missense 358/363 - 1
2-179399850-C-G c.101492G>C p.G33831A Missense 358/363 - 1
2-179399851-C-G c.101491G>C p.G33831R Missense 358/363 - 1
2-179399858-A-G c.101484T>C p.G33828= Synonymous 358/363 - 1
2-179399862-C-T c.101480G>A p.R33827H Missense 358/363 - 4
2-179399862-C-A c.101480G>T p.R33827L Missense 358/363 - 1
2-179399863-G-C c.101479C>G p.R33827G Missense 358/363 - 1
2-179399863-G-A c.101479C>T p.R33827C Missense 358/363 - 3
2-179399867-A-C c.101475T>G p.L33825= Synonymous 358/363 - 1
2-179399868-A-G c.101474T>C p.L33825P Missense 358/363 - 1
2-179399869-G-A c.101473C>T p.L33825F Missense 358/363 - 1
2-179399878-C-A c.101464G>T p.A33822S Missense 358/363 - 1
2-179399878-C-T c.101464G>A p.A33822T Missense 358/363 - 1
2-179399891-C-G c.101451G>C p.E33817D Missense 358/363 - 2
2-179399891-C-A c.101451G>T p.E33817D Missense 358/363 - 2
2-179399899-G-C c.101443C>G p.L33815V Missense 358/363 - 1
2-179399902-C-T c.101440G>A p.E33814K Missense 358/363 - 1
2-179399903-C-A c.101439G>T p.K33813N Missense 358/363 - 1
2-179399904-T-C c.101438A>G p.K33813R Missense 358/363 - 1
2-179399908-T-C c.101434A>G p.T33812A Missense 358/363 - 1
2-179399917-G-A c.101425C>T p.H33809Y Missense 358/363 - 1
2-179399922-G-T c.101420C>A p.A33807E Missense 358/363 - 1
2-179399922-G-A c.101420C>T p.A33807V Missense 358/363 - 1
2-179399931-A-G c.101411T>C p.M33804T Missense 358/363 - 1
2-179399935-A-T c.101407T>A p.S33803T Missense 358/363 - 1
2-179399936-G-C c.101406C>G p.V33802= Synonymous 358/363 - 2
2-179399941-C-T c.101401G>A p.E33801K Missense 358/363 - 1
2-179399942-C-T c.101400G>A p.R33800= Synonymous 358/363 - 2
2-179399944-CT-C c.101398del p.R33800Gfs*5 Frameshift 358/363 - 1
2-179399946-G-C c.101396C>G p.T33799S Missense 358/363 - 1
2-179399947-T-C c.101395A>G p.T33799A Missense 358/363 - 1
2-179399950-C-G c.101392G>C p.E33798Q Missense 358/363 - 1
2-179399955-A-G c.101387T>C p.V33796A Missense 358/363 - 1
2-179399956-C-T c.101386G>A p.V33796I Missense 358/363 - 1
2-179399959-C-T c.101383G>A p.E33795K Missense 358/363 - 1
2-179399960-T-A c.101382A>T p.E33794D Missense 358/363 - 1
2-179399963-A-C c.101379T>G p.D33793E Missense 358/363 - 1
2-179399963-A-T c.101379T>A p.D33793E Missense 358/363 - 1
2-179399964-T-A c.101378A>T p.D33793V Missense 358/363 - 1
2-179399966-A-G c.101376T>C p.Y33792= Synonymous 358/363 - 1
2-179399969-G-C c.101373C>G p.N33791K Missense 358/363 - 1
2-179399969-G-T c.101373C>A p.N33791K Missense 358/363 - 1
2-179399973-A-T c.101369T>A p.M33790K Missense 358/363 - 1
2-179399975-A-T c.101367T>A p.A33789= Synonymous 358/363 - 1
2-179399975-A-G c.101367T>C p.A33789= Synonymous 358/363 - 1
2-179399975-A-C c.101367T>G p.A33789= Synonymous 358/363 - 1
2-179399979-C-G c.101363G>C p.R33788T Missense 358/363 - 1
2-179399982-G-A c.101360C>T p.T33787I Missense 358/363 - 1
2-179399989-C-G c.101353G>C p.D33785H Missense 358/363 - 1
2-179399992-C-G c.101350G>C p.E33784Q Missense 358/363 - 1
2-179399992-C-T c.101350G>A p.E33784K Missense 358/363 - 1
2-179399993-T-G c.101349A>C p.K33783N Missense 358/363 - 1
2-179399993-T-A c.101349A>T p.K33783N Missense 358/363 - 1
2-179399997-G-A c.101345C>T p.T33782I Missense 358/363 - 1
2-179399998-T-C c.101344A>G p.T33782A Missense 358/363 - 1
2-179399999-T-A c.101343A>T p.I33781= Synonymous 358/363 - 1
2-179400001-T-C c.101341A>G p.I33781V Missense 358/363 - 1
2-179400003-G-A c.101339C>T p.T33780I Missense 358/363 - 1
2-179400007-G-A c.101335C>T p.P33779S Missense 358/363 - 1
2-179400014-A-G c.101328T>C p.P33776= Synonymous 358/363 - 1
2-179400015-G-A c.101327C>T p.P33776L Missense 358/363 - 2
2-179400016-G-A c.101326C>T p.P33776S Missense 358/363 - 1
2-179400019-C-A c.101323G>T p.E33775* Nonsense 358/363 - 1
2-179400019-C-T c.101323G>A p.E33775K Missense 358/363 - 1
2-179400023-A-T c.101319T>A p.P33773= Synonymous 358/363 - 1
2-179400029-G-C c.101313C>G p.S33771R Missense 358/363 - 1
2-179400029-G-T c.101313C>A p.S33771R Missense 358/363 - 1
2-179400031-T-G c.101311A>C p.S33771R Missense 358/363 - 1
2-179400035-A-G c.101307T>C p.G33769= Synonymous 358/363 - 1
2-179400049-C-T c.101293G>A p.E33765K Missense 358/363 - 1
2-179400051-G-A c.101291C>T p.A33764V Missense 358/363 - 2
2-179400051-G-T c.101291C>A p.A33764D Missense 358/363 - 1
2-179400059-C-T c.101283G>A p.R33761= Synonymous 358/363 - 1
2-179400060-C-T c.101282G>A p.R33761Q Missense 358/363 - 1
2-179400060-C-A c.101282G>T p.R33761L Missense 358/363 - 1
2-179400061-G-A c.101281C>T p.R33761W Missense 358/363 - 3
2-179400059-C-G c.101283G>C p.R33761= Synonymous 358/363 - 1
2-179400068-G-T c.101274C>A p.Y33758* Nonsense 358/363 - 1
2-179400068-G-C c.101274C>G p.Y33758* Nonsense 358/363 - 1
2-179400072-C-T c.101270G>A p.S33757N Missense 358/363 - 2
2-179400084-A-G c.101258T>C p.F33753S Missense 358/363 - 1
2-179400085-A-G c.101257T>C p.F33753L Missense 358/363 - 1
2-179400083-A-T c.101259T>A p.F33753L Missense 358/363 - 1
2-179400083-A-C c.101259T>G p.F33753L Missense 358/363 - 1
2-179400086-T-C c.101256A>G p.L33752= Synonymous 358/363 - 1
2-179400087-A-T c.101255T>A p.L33752* Nonsense 358/363 - 1
2-179400087-A-C c.101255T>G p.L33752* Nonsense 358/363 - 1
2-179400097-C-T c.101245G>A p.V33749M Missense 358/363 - 2
2-179400097-C-G c.101245G>C p.V33749L Missense 358/363 - 1
2-179400097-C-A c.101245G>T p.V33749L Missense 358/363 - 1
2-179400103-A-G c.101239T>C p.Y33747H Missense 358/363 - 1
2-179400105-C-G c.101237G>C p.R33746P Missense 358/363 - 1
2-179400105-C-T c.101237G>A p.R33746H Missense 358/363 - 2
2-179400106-G-A c.101236C>T p.R33746C Missense 358/363 - 3
2-179400111-T-A c.101231A>T p.E33744V Missense 358/363 - 1
2-179400112-C-T c.101230G>A p.E33744K Missense 358/363 - 1
2-179400112-TC-T c.101230del p.E33744Kfs*6 Frameshift 358/363 - 1
2-179400114-C-T c.101228G>A p.R33743Q Missense 358/363 - 3
2-179400115-G-A c.101227C>T p.R33743* Nonsense 358/363 - 2
2-179400119-C-G c.101223G>C p.Q33741H Missense 358/363 - 1
2-179400124-C-T c.101218G>A p.G33740R Missense 358/363 - 2
2-179400129-C-T c.101213G>A p.R33738H Missense 358/363 - 1
2-179400130-G-A c.101212C>T p.R33738C Missense 358/363 - 9
2-179400131-G-A c.101211C>T p.L33737= Synonymous 358/363 - 1
2-179400131-G-C c.101211C>G p.L33737= Synonymous 358/363 - 1
2-179400131-G-T c.101211C>A p.L33737= Synonymous 358/363 - 1
2-179400134-C-T c.101208G>A p.W33736* Nonsense 358/363 - 1
2-179400140-T-TA c.101201_101202insT p.E33734Dfs*32 Frameshift 358/363 - 1
2-179400149-A-G c.101193T>C p.T33731= Synonymous 358/363 - 2
2-179400151-T-C c.101191A>G p.T33731A Missense 358/363 - 1
2-179400165-A-T c.101177T>A p.V33726D Missense 358/363 - 1
2-179400171-T-C c.101171A>G p.Y33724C Missense 358/363 - 2
2-179400173-G-A c.101169C>T p.N33723= Synonymous 358/363 - 2
2-179400177-G-A c.101165C>T p.T33722I Missense 358/363 - 1
2-179400197-A-C c.101145T>G p.S33715= Synonymous 358/363 - 1
2-179400197-A-G c.101145T>C p.S33715= Synonymous 358/363 - 1
2-179400197-A-T c.101145T>A p.S33715= Synonymous 358/363 - 1
2-179400198-G-A c.101144C>T p.S33715F Missense 358/363 - 1
2-179400204-G-A c.101138C>T p.P33713L Missense 358/363 - 1
2-179400208-C-T c.101134G>A p.E33712K Missense 358/363 - 3
2-179400213-C-T c.101129G>A p.W33710* Nonsense 358/363 - 3
2-179400212-C-T c.101130G>A p.W33710* Nonsense 358/363 - 4
2-179400216-G-A c.101126C>T p.T33709I Missense 358/363 - 2
2-179400225-A-G c.101117T>C p.V33706A Missense 358/363 - 1
2-179400228-AG-A c.101114del p.S33705Lfs*4 Frameshift 358/363 - 1
2-179400228-GA-G c.101113del p.S33705Lfs*4 Frameshift 358/363 - 1
2-179400234-C-T c.101108G>A p.R33703Q Missense 358/363 - 3
2-179400235-G-A c.101107C>T p.R33703* Nonsense 358/363 - 4
2-179400238-A-G c.101104T>C p.S33702P Missense 358/363 - 1
2-179400243-T-TA c.101098_101099insT p.D33700Vfs*13 Frameshift 358/363 - 2
2-179400244-C-AG c.101098delinsCT p.D33700Lfs*13 Frameshift 358/363 - 1
2-179400244-C-CA c.101097dup p.D33700* Nonsense 358/363 - 1
2-179400248-A-T c.101094T>A p.V33698= Synonymous 358/363 - 2
2-179400248-A-G c.101094T>C p.V33698= Synonymous 358/363 - 2
2-179400248-A-C c.101094T>G p.V33698= Synonymous 358/363 - 2
2-179400261-C-T c.101081G>A p.R33694K Missense 358/363 - 1
2-179400267-G-T c.101075C>A p.P33692Q Missense 358/363 - 1
2-179400268-G-A c.101074C>T p.P33692S Missense 358/363 - 2
2-179400278-A-G c.101064T>C p.D33688= Synonymous 358/363 - 1
2-179400280-C-A c.101062G>T p.D33688Y Missense 358/363 - 1
2-179400283-C-T c.101059G>A p.A33687T Missense 358/363 - 3
2-179400292-G-T c.101050C>A p.L33684M Missense 358/363 - 1
2-179400296-A-G c.101046T>C p.V33682= Synonymous 358/363 - 1
2-179400302-C-A c.101040G>T p.K33680N Missense 358/363 - 1
2-179400304-T-A c.101038A>T p.K33680* Nonsense 358/363 - 1
2-179400305-C-T c.101037G>A p.Q33679= Synonymous 358/363 - 1
2-179400306-T-C c.101036A>G p.Q33679R Missense 358/363 - 1
2-179400307-G-C c.101035C>G p.Q33679E Missense 358/363 - 1
2-179400310-C-T c.101032G>A p.D33678N Missense 358/363 - 1
2-179400321-C-T c.101021G>A p.R33674K Missense 358/363 - 1
2-179400319-ATC-A c.101021_101022del p.R33674Ifs*4 Frameshift 358/363 - 1
2-179400330-G-T c.101012C>A p.A33671D Missense 358/363 - 1
2-179400333-C-T c.101009G>A p.C33670Y Missense 358/363 - 1
2-179400340-CAT-C c.101000_101001del p.Y33667Cfs*5 Frameshift 358/363 - 1
2-179400342-T-G c.101000A>C p.Y33667S Missense 358/363 - 1
2-179400346-A-G c.100996T>C p.F33666L Missense 358/363 - 1
2-179400344-G-T c.100998C>A p.F33666L Missense 358/363 - 1
2-179400344-G-C c.100998C>G p.F33666L Missense 358/363 - 1
2-179400347-A-G c.100995T>C p.G33665= Synonymous 358/363 - 1
2-179400348-C-T c.100994G>A p.G33665D Missense 358/363 - 1
2-179400356-T-G c.100986A>C p.K33662N Missense 358/363 - 1
2-179400356-T-A c.100986A>T p.K33662N Missense 358/363 - 1
2-179400360-C-G c.100982G>C p.R33661T Missense 358/363 - 1
2-179400360-C-T c.100982G>A p.R33661K Missense 358/363 - 1
2-179400362-C-G c.100980G>C p.E33660D Missense 358/363 - 1
2-179400362-C-A c.100980G>T p.E33660D Missense 358/363 - 1
2-179400363-T-C c.100979A>G p.E33660G Missense 358/363 - 1
2-179400370-C-T c.100972G>A p.G33658R Missense 358/363 - 1
2-179400371-A-C c.100971T>G p.N33657K Missense 358/363 - 1
2-179400371-A-T c.100971T>A p.N33657K Missense 358/363 - 1
2-179400372-T-A c.100970A>T p.N33657I Missense 358/363 - 1
2-179400375-G-T c.100967C>A p.P33656H Missense 358/363 - 1
2-179400378-A-T c.100964T>A p.F33655Y Missense 358/363 - 1
2-179400389-T-C c.100953A>G p.T33651= Synonymous 358/363 - 1
2-179400393-A-G c.100949T>C p.F33650S Missense 358/363 - 1
2-179400396-G-A c.100946C>T p.S33649F Missense 358/363 - 1
2-179400398-TCT-A c.100942_100944delinsT p.R33648Ffs*24 Frameshift 358/363 - 1
2-179400400-T-C c.100942A>G p.R33648G Missense 358/363 - 1
2-179400400-T-A c.100942A>T p.R33648* Nonsense 358/363 - 1
2-179400403-T-G c.100939A>C p.T33647P Missense 358/363 - 1
2-179400405-A-G c.100937T>C p.V33646A Missense 358/363 - 1
2-179400408-A-G c.100934T>C p.I33645T Missense 358/363 - 1
2-179400409-T-A c.100933A>T p.I33645F Missense 358/363 - 1
2-179400418-A-C c.100924T>G p.Y33642D Missense 358/363 - 1
2-179400421-G-A c.100921C>T p.H33641Y Missense 358/363 - 1
2-179400441-T-A c.100901A>T p.D33634V Missense 358/363 - 1
2-179400442-C-T c.100900G>A p.D33634N Missense 358/363 - 2
2-179400455-C-T c.100887G>A p.W33629* Nonsense 358/363 - 1
2-179400456-C-T c.100886G>A p.W33629* Nonsense 358/363 - 2
2-179400459-G-T c.100883C>A p.T33628N Missense 358/363 - 1
2-179400460-T-G c.100882A>C p.T33628P Missense 358/363 - 1
2-179400460-GT-G c.100882del p.T33628Pfs*32 Frameshift 358/363 - 1
2-179400472-C-T c.100870G>A p.D33624N Missense 358/363 - 1
2-179400472-C-G c.100870G>C p.D33624H Missense 358/363 - 1
2-179400474-G-A c.100868C>T p.P33623L Missense 358/363 - 1
2-179400479-G-A c.100863C>T p.G33621= Synonymous 358/363 - 1
2-179400479-G-C c.100863C>G p.G33621= Synonymous 358/363 - 1
2-179400479-G-T c.100863C>A p.G33621= Synonymous 358/363 - 1
2-179400483-C-G c.100859G>C p.S33620T Missense 358/363 - 1
2-179400484-T-G c.100858A>C p.S33620R Missense 358/363 - 1
2-179400492-A-G c.100850T>C p.I33617T Missense 358/363 - 1
2-179400508-C-G c.100834G>C p.V33612L Missense 358/363 - 1
2-179400508-C-A c.100834G>T p.V33612L Missense 358/363 - 1
2-179400511-C-T c.100831G>A p.E33611K Missense 358/363 - 2
2-179400513-C-T c.100829G>A p.G33610D Missense 358/363 - 1
2-179400513-C-A c.100829G>T p.G33610V Missense 358/363 - 1
2-179400516-C-A c.100826G>T p.R33609L Missense 358/363 - 1
2-179400516-C-T c.100826G>A p.R33609Q Missense 358/363 - 2
2-179400516-C-G c.100826G>C p.R33609P Missense 358/363 - 1
2-179400517-G-A c.100825C>T p.R33609* Nonsense 358/363 - 5
2-179400523-C-T c.100819G>A p.A33607T Missense 358/363 - 1
2-179400526-G-T c.100816C>A p.H33606N Missense 358/363 - 2
2-179400535-C-T c.100807G>A p.G33603R Missense 358/363 - 2
2-179400535-C-G c.100807G>C p.G33603R Missense 358/363 - 2
2-179400536-C-G c.100806G>C p.M33602I Missense 358/363 - 3
2-179400536-C-T c.100806G>A p.M33602I Missense 358/363 - 3
2-179400536-C-A c.100806G>T p.M33602I Missense 358/363 - 3
2-179400537-A-G c.100805T>C p.M33602T Missense 358/363 - 1
2-179400538-T-A c.100804A>T p.M33602L Missense 358/363 - 1
2-179400544-C-G c.100798G>C p.E33600Q Missense 358/363 - 1
2-179400544-C-T c.100798G>A p.E33600K Missense 358/363 - 1
2-179400555-G-A c.100787C>T p.P33596L Missense 358/363 - 1
2-179400573-G-A c.100769C>T p.P33590L Missense 358/363 - 2
2-179400574-G-T c.100768C>A p.P33590T Missense 358/363 - 1
2-179400710-T-G c.100764A>C p.E33588D Missense 357/363 - 2
2-179400712-C-A c.100762G>T p.E33588* Nonsense 357/363 - 1
2-179400718-C-G c.100756G>C p.E33586Q Missense 357/363 - 1
2-179400724-A-G c.100750T>C p.S33584P Missense 357/363 - 1
2-179400726-G-A c.100748C>T p.A33583V Missense 357/363 - 1
2-179400750-T-C c.100724A>G p.Q33575R Missense 357/363 - 1
2-179400756-G-A c.100718C>T p.T33573I Missense 357/363 - 1
2-179400757-T-A c.100717A>T p.T33573S Missense 357/363 - 1
2-179400759-G-A c.100715C>T p.A33572V Missense 357/363 - 1
2-179400760-C-A c.100714G>T p.A33572S Missense 357/363 - 1
2-179400766-C-T c.100708G>A p.V33570I Missense 357/363 - 1
2-179400767-T-G c.100707A>C p.Q33569H Missense 357/363 - 1
2-179400770-G-T c.100704C>A p.Y33568* Nonsense 357/363 - 2
2-179400775-C-T c.100699G>A p.V33567I Missense 357/363 - 1
2-179400777-G-A c.100697C>T p.T33566I Missense 357/363 - 1
2-179400787-C-T c.100687G>A p.D33563N Missense 357/363 - 1
2-179400795-A-G c.100679T>C p.V33560A Missense 357/363 - 1
2-179400797-A-C c.100677T>G p.S33559R Missense 357/363 - 1
2-179400797-A-T c.100677T>A p.S33559R Missense 357/363 - 1
2-179400799-T-G c.100675A>C p.S33559R Missense 357/363 - 1
2-179400802-C-A c.100672G>T p.A33558S Missense 357/363 - 1
2-179400804-A-G c.100670T>C p.I33557T Missense 357/363 - 1
2-179400807-A-G c.100667T>C p.I33556T Missense 357/363 - 1
2-179400814-G-A c.100660C>T p.Q33554* Nonsense 357/363 - 1
2-179400821-G-A c.100653C>T p.G33551= Synonymous 357/363 - 1
2-179400821-G-T c.100653C>A p.G33551= Synonymous 357/363 - 1
2-179400824-A-G c.100650T>C p.G33550= Synonymous 357/363 - 1
2-179400829-T-G c.100645A>C p.K33549Q Missense 357/363 - 1
2-179400830-A-G c.100644T>C p.F33548= Synonymous 357/363 - 1
2-179400829-T-TA c.100644dup p.K33549* Nonsense 357/363 - 1
2-179400832-AT-A c.100641del p.E33547Dfs*80 Frameshift 357/363 - 1
2-179400835-C-G c.100639G>C p.E33547Q Missense 357/363 - 1
2-179400835-C-A c.100639G>T p.E33547* Nonsense 357/363 - 1
2-179400845-A-T c.100629T>A p.Y33543* Nonsense 357/363 - 1
2-179400845-A-C c.100629T>G p.Y33543* Nonsense 357/363 - 1
2-179400852-A-G c.100622T>C p.L33541S Missense 357/363 - 1
2-179400871-C-T c.100603G>A p.E33535K Missense 357/363 - 1
2-179400885-T-A c.100589A>T p.Y33530F Missense 357/363 - 1
2-179400887-C-T c.100587G>A p.W33529* Nonsense 357/363 - 4
2-179400888-C-T c.100586G>A p.W33529* Nonsense 357/363 - 1
2-179400889-A-G c.100585T>C p.W33529R Missense 357/363 - 1
2-179400895-C-T c.100579G>A p.V33527I Missense 357/363 - 11
2-179400896-G-A c.100578C>T p.I33526= Synonymous 357/363 - 1
2-179400898-T-TC c.100575_100576insG p.I33526Dfs*19 Frameshift 357/363 - 1
2-179400904-T-A c.100570A>T p.K33524* Nonsense 357/363 - 1
2-179400912-C-G c.100562G>C p.G33521A Missense 357/363 - 1
2-179400913-C-G c.100561G>C p.G33521R Missense 357/363 - 1
2-179400918-A-G c.100556T>C p.V33519A Missense 357/363 - 2
2-179400928-C-T c.100546G>A p.V33516I Missense 357/363 - 1
2-179400929-C-T c.100545G>A p.L33515= Synonymous 357/363 - 1
2-179400933-G-A c.100541C>T p.T33514I Missense 357/363 - 1
2-179400934-T-A c.100540A>T p.T33514S Missense 357/363 - 1
2-179400936-G-A c.100538C>T p.A33513V Missense 357/363 - 3
2-179400941-G-C c.100533C>G p.S33511R Missense 357/363 - 1
2-179400941-G-T c.100533C>A p.S33511R Missense 357/363 - 1
2-179400943-T-G c.100531A>C p.S33511R Missense 357/363 - 1
2-179400954-A-T c.100520T>A p.V33507D Missense 357/363 - 1
2-179400954-A-C c.100520T>G p.V33507G Missense 357/363 - 1
2-179400956-A-G c.100518T>C p.N33506= Synonymous 357/363 - 1
2-179400964-T-C c.100510A>G p.N33504D Missense 357/363 - 1
2-179400969-A-G c.100505T>C p.L33502P Missense 357/363 - 1
2-179400973-C-T c.100501G>A p.E33501K Missense 357/363 - 1
2-179400977-T-G c.100497A>C p.K33499N Missense 357/363 - 2
2-179400983-G-T c.100491C>A p.H33497Q Missense 357/363 - 1
2-179400994-G-C c.100480C>G p.Q33494E Missense 357/363 - 1
2-179400994-G-A c.100480C>T p.Q33494* Nonsense 357/363 - 1
2-179400998-T-G c.100476A>C p.P33492= Synonymous 357/363 - 1
2-179401001-G-A c.100473C>T p.V33491= Synonymous 357/363 - 1
2-179401002-A-T c.100472T>A p.V33491D Missense 357/363 - 1
2-179401013-G-T c.100461C>A p.P33487= Synonymous 357/363 - 1
2-179401014-G-A c.100460C>T p.P33487L Missense 357/363 - 1
2-179401015-G-A c.100459C>T p.P33487S Missense 357/363 - 2
2-179401025-T-G c.100449A>C p.E33483D Missense 357/363 - 1
2-179401027-C-G c.100447G>C p.E33483Q Missense 357/363 - 3
2-179401027-C-CT c.100446dup p.E33483Rfs*8 Frameshift 357/363 - 1
2-179401029-G-T c.100445C>A p.S33482* Nonsense 357/363 - 2
2-179401036-C-T c.100438G>A p.E33480K Missense 357/363 - 1
2-179401041-C-T c.100433G>A p.W33478* Nonsense 357/363 - 1
2-179401040-C-T c.100434G>A p.W33478* Nonsense 357/363 - 1
2-179401042-A-C c.100432T>G p.W33478G Missense 357/363 - 2
2-179401045-C-A c.100429G>T p.E33477* Nonsense 357/363 - 1
2-179401047-C-T c.100427G>A p.S33476N Missense 357/363 - 1
2-179401051-C-A c.100423G>T p.E33475* Nonsense 357/363 - 1
2-179401051-C-T c.100423G>A p.E33475K Missense 357/363 - 2
2-179401053-C-G c.100421G>C p.G33474A Missense 357/363 - 1
2-179401056-C-G c.100418G>C p.G33473A Missense 357/363 - 1
2-179401058-T-A c.100416A>T p.L33472= Synonymous 357/363 - 1
2-179401058-T-C c.100416A>G p.L33472= Synonymous 357/363 - 1
2-179401058-T-G c.100416A>C p.L33472= Synonymous 357/363 - 1
2-179401060-G-A c.100414C>T p.L33472= Synonymous 357/363 - 1
2-179401059-A-T c.100415T>A p.L33472Q Missense 357/363 - 1
2-179401063-T-A c.100411A>T p.N33471Y Missense 357/363 - 1
2-179401064-T-G c.100410A>C p.E33470D Missense 357/363 - 1
2-179401064-T-A c.100410A>T p.E33470D Missense 357/363 - 1
2-179401066-C-G c.100408G>C p.E33470Q Missense 357/363 - 2
2-179401066-C-T c.100408G>A p.E33470K Missense 357/363 - 1
2-179401074-A-C c.100400T>G p.V33467G Missense 357/363 - 1
2-179401077-C-T c.100397G>A p.R33466H Missense 357/363 - 3
2-179401078-G-A c.100396C>T p.R33466C Missense 357/363 - 3
2-179401079-A-G c.100395T>C p.F33465= Synonymous 357/363 - 1
2-179401084-C-A c.100390G>T p.E33464* Nonsense 357/363 - 3
2-179401085-G-A c.100389C>T p.Y33463= Synonymous 357/363 - 2
2-179401086-T-C c.100388A>G p.Y33463C Missense 357/363 - 1
2-179401090-C-T c.100384G>A p.E33462K Missense 357/363 - 1
2-179401090-C-G c.100384G>C p.E33462Q Missense 357/363 - 1
2-179401090-C-A c.100384G>T p.E33462* Nonsense 357/363 - 1
2-179401099-C-T c.100375G>A p.E33459K Missense 357/363 - 1
2-179401111-T-G c.100363A>C p.K33455Q Missense 357/363 - 2
2-179401116-G-T c.100358C>A p.S33453* Nonsense 357/363 - 1
2-179401116-G-C c.100358C>G p.S33453* Nonsense 357/363 - 1
2-179401118-A-G c.100356T>C p.F33452= Synonymous 357/363 - 1
2-179401122-A-G c.100352T>C p.V33451A Missense 357/363 - 1
2-179401129-C-A c.100345G>T p.E33449* Nonsense 357/363 - 1
2-179401131-C-G c.100343G>C p.R33448P Missense 357/363 - 1
2-179401132-G-A c.100342C>T p.R33448* Nonsense 357/363 - 3
2-179401138-C-A c.100336G>T p.E33446* Nonsense 357/363 - 2
2-179401141-C-T c.100333G>A p.E33445K Missense 357/363 - 1
2-179401144-T-C c.100330A>G p.T33444A Missense 357/363 - 2
2-179401147-T-C c.100327A>G p.T33443A Missense 357/363 - 1
2-179401152-G-A c.100322C>T p.S33441F Missense 357/363 - 1
2-179401154-A-C c.100320T>G p.I33440M Missense 357/363 - 1
2-179401166-C-G c.100308G>C p.Q33436H Missense 357/363 - 1
2-179401168-G-A c.100306C>T p.Q33436* Nonsense 357/363 - 1
2-179401171-T-G c.100303A>C p.K33435Q Missense 357/363 - 1
2-179401179-C-T c.100295G>A p.R33432H Missense 357/363 - 3
2-179401188-A-G c.100286T>C p.L33429P Missense 357/363 - 1
2-179401194-T-A c.100280A>T p.Y33427F Missense 357/363 - 1
2-179401198-T-A c.100276A>T p.N33426Y Missense 357/363 - 1
2-179401200-C-G c.100274G>C p.R33425T Missense 357/363 - 1
2-179401200-C-A c.100274G>T p.R33425I Missense 357/363 - 1
2-179401205-CTT-C c.100267_100268del p.K33423Dfs*2 Frameshift 357/363 - 1
2-179401208-TG-GT c.100265_100266delinsAC p.A33422D Missense 357/363 - 2
2-179401209-G-T c.100265C>A p.A33422E Missense 357/363 - 1
2-179401210-C-T c.100264G>A p.A33422T Missense 357/363 - 1
2-179401215-C-T c.100259G>A p.G33420E Missense 357/363 - 1
2-179401227-G-A c.100247C>T p.P33416L Missense 357/363 - 1
2-179401228-G-A c.100246C>T p.P33416S Missense 357/363 - 1
2-179401231-G-A c.100243C>T p.P33415S Missense 357/363 - 1
2-179401231-G-C c.100243C>G p.P33415A Missense 357/363 - 1
2-179401242-A-C c.100232T>G p.V33411G Missense 357/363 - 1
2-179401248-C-CA c.100225dup p.C33409Lfs*11 Frameshift 357/363 - 1
2-179401251-G-T c.100223C>A p.S33408Y Missense 357/363 - 1
2-179401254-T-C c.100220A>G p.D33407G Missense 357/363 - 1
2-179401264-AC-A c.100210del p.V33404Sfs*39 Frameshift 357/363 - 1
2-179401270-T-C c.100204A>G p.T33402A Missense 357/363 - 1
2-179401286-A-T c.100188T>A p.P33396= Synonymous 357/363 - 1
2-179401288-G-A c.100186C>T p.P33396S Missense 357/363 - 1
2-179401291-C-A c.100183G>T p.A33395S Missense 357/363 - 1
2-179401293-C-T c.100181G>A p.G33394D Missense 357/363 - 2
2-179401294-C-T c.100180G>A p.G33394S Missense 357/363 - 4
2-179401298-C-T c.100176G>A p.K33392= Synonymous 357/363 - 1
2-179401670-G-A c.100166C>T p.P33389L Missense 356/363 - 1
2-179401671-G-T c.100165C>A p.P33389T Missense 356/363 - 1
2-179401673-C-T c.100163G>A p.S33388N Missense 356/363 - 1
2-179401688-A-G c.100148T>C p.V33383A Missense 356/363 - 1
2-179401691-G-A c.100145C>T p.S33382L Missense 356/363 - 1
2-179401698-C-T c.100138G>A p.V33380M Missense 356/363 - 2
2-179401698-C-G c.100138G>C p.V33380L Missense 356/363 - 1
2-179401698-C-A c.100138G>T p.V33380L Missense 356/363 - 1
2-179401719-C-T c.100117G>A p.G33373S Missense 356/363 - 3
2-179401719-C-A c.100117G>T p.G33373C Missense 356/363 - 1
2-179401725-T-C c.100111A>G p.T33371A Missense 356/363 - 1
2-179401731-G-A c.100105C>T p.Q33369* Nonsense 356/363 - 1
2-179401735-T-A c.100101A>T p.S33367= Synonymous 356/363 - 1
2-179401735-T-C c.100101A>G p.S33367= Synonymous 356/363 - 1
2-179401735-T-G c.100101A>C p.S33367= Synonymous 356/363 - 1
2-179401739-A-C c.100097T>G p.V33366G Missense 356/363 - 1
2-179401739-A-T c.100097T>A p.V33366D Missense 356/363 - 1
2-179401740-C-T c.100096G>A p.V33366I Missense 356/363 - 6
2-179401742-C-T c.100094G>A p.R33365Q Missense 356/363 - 6
2-179401743-G-A c.100093C>T p.R33365W Missense 356/363 - 2
2-179401743-G-T c.100093C>A p.R33365= Synonymous 356/363 - 1
2-179401741-C-T c.100095G>A p.R33365= Synonymous 356/363 - 1
2-179401741-C-G c.100095G>C p.R33365= Synonymous 356/363 - 1
2-179401741-C-A c.100095G>T p.R33365= Synonymous 356/363 - 1
2-179401750-AATAGCCAGCAT-A c.100076_100086del p.N33359Ifs*14 Frameshift 356/363 - 1
2-179401751-T-C c.100085A>G p.Y33362C Missense 356/363 - 1
2-179401752-A-T c.100084T>A p.Y33362N Missense 356/363 - 1
2-179401755-C-A c.100081G>T p.G33361C Missense 356/363 - 1
2-179401757-G-A c.100079C>T p.A33360V Missense 356/363 - 1
2-179401760-T-G c.100076A>C p.N33359T Missense 356/363 - 1
2-179401766-G-T c.100070C>A p.T33357K Missense 356/363 - 1
2-179401776-C-T c.100060G>A p.V33354M Missense 356/363 - 1
2-179401777-A-T c.100059T>A p.I33353= Synonymous 356/363 - 2
2-179401778-A-C c.100058T>G p.I33353S Missense 356/363 - 1
2-179401778-A-G c.100058T>C p.I33353T Missense 356/363 - 1
2-179401782-T-C c.100054A>G p.R33352G Missense 356/363 - 1
2-179401786-G-T c.100050C>A p.T33350= Synonymous 356/363 - 1
2-179401786-G-C c.100050C>G p.T33350= Synonymous 356/363 - 1
2-179401786-G-A c.100050C>T p.T33350= Synonymous 356/363 - 1
2-179401787-G-T c.100049C>A p.T33350N Missense 356/363 - 1
2-179401787-G-A c.100049C>T p.T33350I Missense 356/363 - 2
2-179401788-T-C c.100048A>G p.T33350A Missense 356/363 - 1
2-179401789-T-C c.100047A>G p.T33349= Synonymous 356/363 - 1
2-179401789-T-A c.100047A>T p.T33349= Synonymous 356/363 - 1
2-179401789-T-G c.100047A>C p.T33349= Synonymous 356/363 - 1
2-179401800-T-G c.100036A>C p.I33346L Missense 356/363 - 1
2-179401802-G-T c.100034C>A p.A33345D Missense 356/363 - 1
2-179401805-GA-CC c.100030_100031delinsGG p.S33344G Missense 356/363 - 1
2-179401805-G-A c.100031C>T p.S33344L Missense 356/363 - 1
2-179401806-A-T c.100030T>A p.S33344T Missense 356/363 - 1
2-179401805-GAAGAC-G c.100026_100030del p.S33344Hfs*7 Frameshift 356/363 - 1
2-179401808-G-T c.100028C>A p.S33343Y Missense 356/363 - 1
2-179401818-G-T c.100018C>A p.Q33340K Missense 356/363 - 2
2-179401828-C-A c.100008G>T p.G33336= Synonymous 356/363 - 1
2-179401830-C-T c.100006G>A p.G33336R Missense 356/363 - 1
2-179401833-C-A c.100003G>T p.E33335* Nonsense 356/363 - 1
2-179401834-C-T c.100002G>A p.K33334= Synonymous 356/363 - 1
2-179401839-C-G c.99997G>C p.A33333P Missense 356/363 - 1
2-179401845-A-G c.99991T>C p.C33331R Missense 356/363 - 3
2-179401848-T-A c.99988A>T p.K33330* Nonsense 356/363 - 1
2-179401850-T-C c.99986A>G p.E33329G Missense 356/363 - 2
2-179401854-C-T c.99982G>A p.V33328M Missense 356/363 - 1
2-179401857-C-A c.99979G>T p.V33327L Missense 356/363 - 1
2-179401858-A-T c.99978T>A p.Y33326* Nonsense 356/363 - 1
2-179401858-A-C c.99978T>G p.Y33326* Nonsense 356/363 - 1
2-179401858-A-G c.99978T>C p.Y33326= Synonymous 356/363 - 1
2-179401859-T-C c.99977A>G p.Y33326C Missense 356/363 - 1
2-179401867-G-A c.99969C>T p.I33323= Synonymous 356/363 - 1
2-179401870-C-A c.99966G>T p.W33322C Missense 356/363 - 3
2-179401870-C-G c.99966G>C p.W33322C Missense 356/363 - 1
2-179401881-C-T c.99955G>A p.G33319R Missense 356/363 - 1
2-179401884-C-G c.99952G>C p.D33318H Missense 356/363 - 1
2-179401885-CA-C c.99951del p.D33317Efs*32 Frameshift 356/363 - 1
2-179401887-C-A c.99949G>T p.D33317Y Missense 356/363 - 1
2-179401890-C-T c.99946G>A p.A33316T Missense 356/363 - 2
2-179401896-G-A c.99940C>T p.P33314S Missense 356/363 - 3
2-179401900-C-T c.99936G>A p.W33312* Nonsense 356/363 - 1
2-179401905-T-C c.99931A>G p.S33311G Missense 356/363 - 1
2-179401914-C-T c.99922G>A p.A33308T Missense 356/363 - 3
2-179401915-G-A c.99921C>T p.S33307= Synonymous 356/363 - 1
2-179401915-G-C c.99921C>G p.S33307= Synonymous 356/363 - 1
2-179401915-G-T c.99921C>A p.S33307= Synonymous 356/363 - 1
2-179401916-G-T c.99920C>A p.S33307Y Missense 356/363 - 2
2-179401929-G-C c.99907C>G p.L33303V Missense 356/363 - 1
2-179401935-C-T c.99901G>A p.E33301K Missense 356/363 - 3
2-179401936-G-T c.99900C>A p.I33300= Synonymous 356/363 - 2
2-179401936-G-A c.99900C>T p.I33300= Synonymous 356/363 - 2
2-179401943-A-G c.99893T>C p.I33298T Missense 356/363 - 1
2-179401946-G-A c.99890C>T p.P33297L Missense 356/363 - 1
2-179401954-A-C c.99882T>G p.P33294= Synonymous 356/363 - 1
2-179401954-A-T c.99882T>A p.P33294= Synonymous 356/363 - 1
2-179401954-A-G c.99882T>C p.P33294= Synonymous 356/363 - 1
2-179401955-G-T c.99881C>A p.P33294H Missense 356/363 - 1
2-179401957-T-C c.99879A>G p.K33293= Synonymous 356/363 - 1
2-179401965-G-T c.99871C>A p.P33291T Missense 356/363 - 1
2-179402072-G-A c.99862C>T p.Q33288* Nonsense 355/363 - 1
2-179402073-T-C c.99861A>G p.I33287M Missense 355/363 - 1
2-179402088-G-A c.99846C>T p.I33282= Synonymous 355/363 - 1
2-179402092-G-T c.99842C>A p.A33281D Missense 355/363 - 1
2-179402093-C-T c.99841G>A p.A33281T Missense 355/363 - 1
2-179402104-C-T c.99830G>A p.G33277E Missense 355/363 - 1
2-179402105-C-T c.99829G>A p.G33277R Missense 355/363 - 1
2-179402107-A-T c.99827T>A p.F33276Y Missense 355/363 - 1
2-179402112-ATTGCTGAGCTGGACT-A c.99807_99821del p.K33269_S33273del InFrameDeletion 355/363 - 1
2-179402120-G-A c.99814C>T p.L33272F Missense 355/363 - 1
2-179402130-G-A c.99804C>T p.Y33268= Synonymous 355/363 - 1
2-179402131-T-C c.99803A>G p.Y33268C Missense 355/363 - 1
2-179402136-C-T c.99798G>A p.G33266= Synonymous 355/363 - 1
2-179402138-C-A c.99796G>T p.G33266W Missense 355/363 - 2
2-179402140-G-T c.99794C>A p.A33265D Missense 355/363 - 1
2-179402151-A-T c.99783T>A p.R33261= Synonymous 355/363 - 1
2-179402150-T-TA c.99783dup p.K33262* Nonsense 355/363 - 1
2-179402152-C-G c.99782G>C p.R33261P Missense 355/363 - 1
2-179402152-C-T c.99782G>A p.R33261H Missense 355/363 - 1
2-179402155-T-A c.99779A>T p.Q33260L Missense 355/363 - 1
2-179402166-C-T c.99768G>A p.M33256I Missense 355/363 - 1
2-179402167-A-C c.99767T>G p.M33256R Missense 355/363 - 1
2-179402174-G-A c.99760C>T p.L33254F Missense 355/363 - 1
2-179402182-T-C c.99752A>G p.Y33251C Missense 355/363 - 1
2-179402185-T-C c.99749A>G p.H33250R Missense 355/363 - 2
2-179402215-G-C c.99719C>G p.S33240* Nonsense 355/363 - 1
2-179402216-A-T c.99718T>A p.S33240T Missense 355/363 - 1
2-179402222-G-A c.99712C>T p.Q33238* Nonsense 355/363 - 2
2-179402236-C-T c.99698G>A p.G33233D Missense 355/363 - 1
2-179402238-A-T c.99696T>A p.H33232Q Missense 355/363 - 1
2-179402239-T-C c.99695A>G p.H33232R Missense 355/363 - 1
2-179402245-C-T c.99689G>A p.W33230* Nonsense 355/363 - 1
2-179402244-C-T c.99690G>A p.W33230* Nonsense 355/363 - 1
2-179402259-T-G c.99675A>C p.V33225= Synonymous 355/363 - 1
2-179402259-T-C c.99675A>G p.V33225= Synonymous 355/363 - 1
2-179402259-T-A c.99675A>T p.V33225= Synonymous 355/363 - 1
2-179402266-C-T c.99668G>A p.R33223H Missense 355/363 - 1
2-179402267-G-C c.99667C>G p.R33223G Missense 355/363 - 1
2-179402273-T-G c.99661A>C p.I33221L Missense 355/363 - 2
2-179402273-T-C c.99661A>G p.I33221V Missense 355/363 - 1
2-179402283-A-T c.99651T>A p.H33217Q Missense 355/363 - 1
2-179402283-A-C c.99651T>G p.H33217Q Missense 355/363 - 1
2-179402290-C-T c.99644G>A p.R33215Q Missense 355/363 - 2
2-179402290-C-G c.99644G>C p.R33215P Missense 355/363 - 1
2-179402291-G-A c.99643C>T p.R33215W Missense 355/363 - 5
2-179402296-G-A c.99638C>T p.T33213I Missense 355/363 - 1
2-179402308-G-A c.99626C>T p.A33209V Missense 355/363 - 1
2-179402309-C-G c.99625G>C p.A33209P Missense 355/363 - 1
2-179402324-C-T c.99610G>A p.E33204K Missense 355/363 - 1
2-179402329-A-G c.99605T>C p.L33202P Missense 355/363 - 2
2-179402332-G-A c.99602C>T p.P33201L Missense 355/363 - 1
2-179402332-G-T c.99602C>A p.P33201Q Missense 355/363 - 1
2-179402338-C-T c.99596G>A p.G33199D Missense 355/363 - 1
2-179402338-C-G c.99596G>C p.G33199A Missense 355/363 - 1
2-179402339-CCAGGATGG-C c.99588_99595del p.F33196Lfs*48 Frameshift 355/363 - 1
2-179402342-G-T c.99592C>A p.P33198T Missense 355/363 - 1
2-179402350-T-A c.99584A>T p.Q33195L Missense 355/363 - 1
2-179402350-T-G c.99584A>C p.Q33195P Missense 355/363 - 1
2-179402351-G-T c.99583C>A p.Q33195K Missense 355/363 - 1
2-179402353-G-A c.99581C>T p.P33194L Missense 355/363 - 2
2-179402354-G-A c.99580C>T p.P33194S Missense 355/363 - 2
2-179402358-T-C c.99576A>G p.A33192= Synonymous 355/363 - 1
2-179402360-C-A c.99574G>T p.A33192S Missense 355/363 - 1
2-179402360-C-G c.99574G>C p.A33192P Missense 355/363 - 1
2-179402371-A-G c.99563T>C p.L33188P Missense 355/363 - 1
2-179402377-C-T c.99557G>A p.S33186N Missense 355/363 - 1
2-179402393-C-T c.99541G>A p.E33181K Missense 355/363 - 1
2-179402399-C-T c.99535G>A p.V33179I Missense 355/363 - 2
2-179402402-C-T c.99532G>A p.E33178K Missense 355/363 - 1
2-179402408-T-A c.99526A>T p.T33176S Missense 355/363 - 1
2-179402416-C-T c.99518G>A p.C33173Y Missense 355/363 - 1
2-179402417-A-T c.99517T>A p.C33173S Missense 355/363 - 1
2-179402416-C-G c.99518G>C p.C33173S Missense 355/363 - 1
2-179402429-C-A c.99505G>T p.G33169C Missense 355/363 - 1
2-179402435-C-T c.99499G>A p.D33167N Missense 355/363 - 1
2-179402438-C-T c.99496G>A p.E33166K Missense 355/363 - 3
2-179402438-C-A c.99496G>T p.E33166* Nonsense 355/363 - 1
2-179402439-C-T c.99495G>A p.Q33165= Synonymous 355/363 - 1
2-179402441-G-A c.99493C>T p.Q33165* Nonsense 355/363 - 1
2-179402444-C-T c.99490G>A p.E33164K Missense 355/363 - 2
2-179402444-C-G c.99490G>C p.E33164Q Missense 355/363 - 1
2-179402449-G-T c.99485C>A p.T33162K Missense 355/363 - 1
2-179402451-C-G c.99483G>C p.M33161I Missense 355/363 - 1
2-179402451-C-T c.99483G>A p.M33161I Missense 355/363 - 1
2-179402451-C-A c.99483G>T p.M33161I Missense 355/363 - 1
2-179402456-C-T c.99478G>A p.V33160I Missense 355/363 - 1
2-179402468-G-A c.99466C>T p.H33156Y Missense 355/363 - 1
2-179402473-C-T c.99461G>A p.R33154H Missense 355/363 - 2
2-179402474-G-A c.99460C>T p.R33154C Missense 355/363 - 2
2-179402474-G-C c.99460C>G p.R33154G Missense 355/363 - 1
2-179402480-C-T c.99454G>A p.D33152N Missense 355/363 - 1
2-179402486-A-G c.99448T>C p.S33150P Missense 355/363 - 1
2-179402488-A-G c.99446T>C p.M33149T Missense 355/363 - 2
2-179402491-T-C c.99443A>G p.K33148R Missense 355/363 - 1
2-179402492-T-C c.99442A>G p.K33148E Missense 355/363 - 1
2-179402496-T-C c.99438A>G p.K33146= Synonymous 355/363 - 1
2-179402495-AT-A c.99438del p.K33146Nfs*15 Frameshift 355/363 - 1
2-179402500-C-T c.99434G>A p.R33145Q Missense 355/363 - 3
2-179402501-G-A c.99433C>T p.R33145W Missense 355/363 - 1
2-179402503-C-T c.99431G>A p.S33144N Missense 355/363 - 1
2-179402504-T-G c.99430A>C p.S33144R Missense 355/363 - 1
2-179402507-G-A c.99427C>T p.Q33143* Nonsense 355/363 - 3
2-179402516-C-G c.99418G>C p.E33140Q Missense 355/363 - 1
2-179402519-T-C c.99415A>G p.K33139E Missense 355/363 - 1
2-179402528-T-A c.99406A>T p.R33136* Nonsense 355/363 - 1
2-179402529-G-A c.99405C>T p.Y33135= Synonymous 355/363 - 1
2-179402549-G-C c.99385C>G p.L33129V Missense 355/363 - 1
2-179402553-C-T c.99381G>A p.R33127= Synonymous 355/363 - 1
2-179402554-C-T c.99380G>A p.R33127K Missense 355/363 - 2
2-179402557-C-T c.99377G>A p.G33126E Missense 355/363 - 1
2-179402558-C-T c.99376G>A p.G33126R Missense 355/363 - 1
2-179402565-C-G c.99369G>C p.Q33123H Missense 355/363 - 1
2-179402568-G-T c.99366C>A p.C33122* Nonsense 355/363 - 1
2-179402569-C-A c.99365G>T p.C33122F Missense 355/363 - 1
2-179402576-G-A c.99358C>T p.L33120F Missense 355/363 - 1
2-179402578-T-C c.99356A>G p.Q33119R Missense 355/363 - 1
2-179402588-C-T c.99346G>A p.E33116K Missense 355/363 - 5
2-179402589-A-C c.99345T>G p.G33115= Synonymous 355/363 - 1
2-179402590-C-T c.99344G>A p.G33115D Missense 355/363 - 2
2-179402592-C-G c.99342G>C p.L33114F Missense 355/363 - 2
2-179402592-C-A c.99342G>T p.L33114F Missense 355/363 - 1
2-179402599-G-A c.99335C>T p.T33112I Missense 355/363 - 1
2-179402606-C-T c.99328G>A p.V33110I Missense 355/363 - 1
2-179402607-A-C c.99327T>G p.D33109E Missense 355/363 - 1
2-179402607-A-T c.99327T>A p.D33109E Missense 355/363 - 1
2-179402610-C-A c.99324G>T p.K33108N Missense 355/363 - 1
2-179402611-T-G c.99323A>C p.K33108T Missense 355/363 - 1
2-179402612-T-C c.99322A>G p.K33108E Missense 355/363 - 1
2-179402613-C-G c.99321G>C p.M33107I Missense 355/363 - 1
2-179402613-C-T c.99321G>A p.M33107I Missense 355/363 - 1
2-179402613-C-A c.99321G>T p.M33107I Missense 355/363 - 1
2-179402618-C-T c.99316G>A p.E33106K Missense 355/363 - 1
2-179402620-T-A c.99314A>T p.K33105I Missense 355/363 - 1
2-179402620-T-G c.99314A>C p.K33105T Missense 355/363 - 1
2-179402622-G-T c.99312C>A p.R33104= Synonymous 355/363 - 1
2-179402623-C-T c.99311G>A p.R33104H Missense 355/363 - 2
2-179402624-G-A c.99310C>T p.R33104C Missense 355/363 - 3
2-179402625-T-C c.99309A>G p.I33103M Missense 355/363 - 1
2-179402626-A-T c.99308T>A p.I33103K Missense 355/363 - 1
2-179402627-T-G c.99307A>C p.I33103L Missense 355/363 - 1
2-179402627-T-C c.99307A>G p.I33103V Missense 355/363 - 1
2-179402629-C-A c.99305G>T p.G33102V Missense 355/363 - 1
2-179402636-C-A c.99298G>T p.A33100S Missense 355/363 - 1
2-179402641-C-T c.99293G>A p.G33098E Missense 355/363 - 1
2-179402644-G-T c.99290C>A p.S33097Y Missense 355/363 - 2
2-179403178-C-G c.99289+89G>C - IntronicSNV - 354/362 1
2-179403268-T-C c.99288A>G p.T33096= Synonymous 354/363 - 1
2-179403278-G-C c.99278C>G p.T33093S Missense 354/363 - 1
2-179403279-T-A c.99277A>T p.T33093S Missense 354/363 - 1
2-179403280-C-A c.99276G>T p.K33092N Missense 354/363 - 1
2-179403293-G-A c.99263C>T p.A33088V Missense 354/363 - 2
2-179403318-C-T c.99238G>A p.G33080R Missense 354/363 - 1
2-179403324-C-T c.99232G>A p.E33078K Missense 354/363 - 4
2-179403330-C-T c.99226G>A p.E33076K Missense 354/363 - 1
2-179403330-C-G c.99226G>C p.E33076Q Missense 354/363 - 1
2-179403333-C-T c.99223G>A p.A33075T Missense 354/363 - 3
2-179403339-C-A c.99217G>T p.V33073F Missense 354/363 - 1
2-179403348-C-G c.99208G>C p.E33070Q Missense 354/363 - 1
2-179403351-ACTCAGTAGCTT-A c.99194_99204del p.E33065Vfs*2 Frameshift 354/363 - 1
2-179403354-C-A c.99202G>T p.E33068* Nonsense 354/363 - 1
2-179403356-G-T c.99200C>A p.T33067N Missense 354/363 - 1
2-179403362-T-A c.99194A>T p.E33065V Missense 354/363 - 1
2-179403364-CAG-AAA c.99190_99192delinsTTT p.L33064F Missense 354/363 - 1
2-179403365-A-AAACCTTGCAGACTCGCCCTCGTAGACGGTCAT c.99190_99191insATGACCGTCTACGAGGGCGAGTCTGCAAGGTT p.L33064Hfs*29 Frameshift 354/363 - 1
2-179403367-C-G c.99189G>C p.L33063F Missense 354/363 - 1
2-179403374-C-T c.99182G>A p.G33061E Missense 354/363 - 1
2-179403377-A-G c.99179T>C p.I33060T Missense 354/363 - 1
2-179403380-G-A c.99176C>T p.T33059I Missense 354/363 - 1
2-179403383-A-C c.99173T>G p.F33058C Missense 354/363 - 1
2-179403383-A-G c.99173T>C p.F33058S Missense 354/363 - 1
2-179403390-T-A c.99166A>T p.K33056* Nonsense 354/363 - 1
2-179403391-G-C c.99165C>G p.D33055E Missense 354/363 - 2
2-179403391-G-T c.99165C>A p.D33055E Missense 354/363 - 2
2-179403401-C-T c.99155G>A p.R33052H Missense 354/363 - 2
2-179403402-G-A c.99154C>T p.R33052C Missense 354/363 - 3
2-179403417-T-A c.99139A>T p.K33047* Nonsense 354/363 - 1
2-179403422-C-T c.99134G>A p.W33045* Nonsense 354/363 - 2
2-179403421-C-T c.99135G>A p.W33045* Nonsense 354/363 - 1
2-179403425-G-T c.99131C>A p.A33044D Missense 354/363 - 1
2-179403425-G-A c.99131C>T p.A33044V Missense 354/363 - 1
2-179403426-C-G c.99130G>C p.A33044P Missense 354/363 - 1
2-179403426-C-T c.99130G>A p.A33044T Missense 354/363 - 1
2-179403429-T-C c.99127A>G p.S33043G Missense 354/363 - 1
2-179403433-T-C c.99123A>G p.G33041= Synonymous 354/363 - 1
2-179403435-C-T c.99121G>A p.G33041R Missense 354/363 - 1
2-179403435-C-G c.99121G>C p.G33041R Missense 354/363 - 1
2-179403438-A-C c.99118T>G p.S33040A Missense 354/363 - 1
2-179403438-A-T c.99118T>A p.S33040T Missense 354/363 - 1
2-179403445-A-G c.99111T>C p.Y33037= Synonymous 354/363 - 1
2-179403454-C-G c.99102G>C p.W33034C Missense 354/363 - 3
2-179403455-C-A c.99101G>T p.W33034L Missense 354/363 - 1
2-179403456-A-C c.99100T>G p.W33034G Missense 354/363 - 1
2-179403465-G-A c.99091C>T p.L33031F Missense 354/363 - 2
2-179403465-G-C c.99091C>G p.L33031V Missense 354/363 - 1
2-179403477-C-A c.99079G>T p.G33027C Missense 354/363 - 6
2-179403480-C-T c.99076G>A p.G33026S Missense 354/363 - 1
2-179403480-C-G c.99076G>C p.G33026R Missense 354/363 - 1
2-179403482-T-A c.99074A>T p.D33025V Missense 354/363 - 1
2-179403483-C-T c.99073G>A p.D33025N Missense 354/363 - 2
2-179403486-A-G c.99070T>C p.C33024R Missense 354/363 - 1
2-179403489-C-T c.99067G>A p.E33023K Missense 354/363 - 2
2-179403492-G-A c.99064C>T p.P33022S Missense 354/363 - 1
2-179403495-TTCTCCCACTGTAGAGTGA-T c.99044_99061del p.V33015_K33021delinsE MultiAAMissense 354/363 - 1
2-179403492-GT-G c.99063del p.K33021Nfs*40 Frameshift 354/363 - 1
2-179403496-C-A c.99060G>T p.E33020D Missense 354/363 - 1
2-179403498-C-A c.99058G>T p.E33020* Nonsense 354/363 - 1
2-179403497-TC-T c.99058del p.E33020Rfs*41 Frameshift 354/363 - 1
2-179403509-G-C c.99047C>G p.T33016S Missense 354/363 - 1
2-179403510-T-A c.99046A>T p.T33016S Missense 354/363 - 1
2-179403519-C-G c.99037G>C p.D33013H Missense 354/363 - 1
2-179403522-T-A c.99034A>T p.K33012* Nonsense 354/363 - 1
2-179403524-G-A c.99032C>T p.S33011F Missense 354/363 - 2
2-179403524-GA-AG c.99031_99032delinsCT p.S33011L Missense 354/363 - 1
2-179403525-A-T c.99031T>A p.S33011T Missense 354/363 - 3
2-179403534-G-T c.99022C>A p.L33008I Missense 354/363 - 2
2-179403536-A-C c.99020T>G p.I33007S Missense 354/363 - 1
2-179403537-T-TTTCTCAGTGTGATTCGAGGGGCATG c.99018_99019insCATGCCCCTCGAATCACACTGAGAA p.I33007Hfs*16 Frameshift 354/363 - 1
2-179403540-C-T c.99016G>A p.E33006K Missense 354/363 - 2
2-179403542-A-T c.99014T>A p.L33005H Missense 354/363 - 1
2-179403551-G-A c.99005C>T p.P33002L Missense 354/363 - 1
2-179403555-G-A c.99001C>T p.Q33001* Nonsense 354/363 - 3
2-179403557-CT-AG c.98998_98999inv p.S33000L Missense 354/363 - 1
2-179403561-G-A c.98995C>T p.P32999S Missense 354/363 - 1
2-179403561-GT-G c.98994del p.K32998Nfs*63 Frameshift 354/363 - 3
2-179403667-C-T c.98989+6G>A - IntronicSNV - 353/362 1
2-179403672-C-T c.98989+1G>A - IntronicSNV - 353/362 1
2-179403673-C-T c.98989G>A p.D32997N Missense 353/363 - 3
2-179403677-T-G c.98985A>C p.P32995= Synonymous 353/363 - 1
2-179403691-C-G c.98971G>C p.V32991L Missense 353/363 - 2
2-179403695-T-A c.98967A>T p.P32989= Synonymous 353/363 - 1
2-179403696-G-A c.98966C>T p.P32989L Missense 353/363 - 1
2-179403697-GT-G c.98964del p.E32988Dfs*73 Frameshift 353/363 - 1
2-179403702-G-A c.98960C>T p.S32987F Missense 353/363 - 1
2-179403703-A-G c.98959T>C p.S32987P Missense 353/363 - 1
2-179403708-G-T c.98954C>A p.P32985H Missense 353/363 - 1
2-179403709-G-A c.98953C>T p.P32985S Missense 353/363 - 1
2-179403722-C-A c.98940G>T p.L32980= Synonymous 353/363 - 1
2-179403722-C-T c.98940G>A p.L32980= Synonymous 353/363 - 1
2-179403731-A-G c.98931T>C p.D32977= Synonymous 353/363 - 1
2-179403729-ACAT-A c.98930_98932del p.D32977del InFrameDeletion 353/363 - 1
2-179403733-C-T c.98929G>A p.D32977N Missense 353/363 - 1
2-179403734-A-C c.98928T>G p.N32976K Missense 353/363 - 1
2-179403738-T-A c.98924A>T p.Q32975L Missense 353/363 - 1
2-179403739-G-C c.98923C>G p.Q32975E Missense 353/363 - 1
2-179403742-C-T c.98920G>A p.A32974T Missense 353/363 - 1
2-179403743-G-A c.98919C>T p.I32973= Synonymous 353/363 - 1
2-179403747-A-G c.98915T>C p.I32972T Missense 353/363 - 4
2-179403749-G-T c.98913C>A p.R32971= Synonymous 353/363 - 2
2-179403749-G-C c.98913C>G p.R32971= Synonymous 353/363 - 2
2-179403749-G-A c.98913C>T p.R32971= Synonymous 353/363 - 2
2-179403750-C-T c.98912G>A p.R32971H Missense 353/363 - 10
2-179403754-A-C c.98908T>G p.F32970V Missense 353/363 - 1
2-179403754-A-G c.98908T>C p.F32970L Missense 353/363 - 1
2-179403756-T-C c.98906A>G p.Q32969R Missense 353/363 - 1
2-179403758-A-G c.98904T>C p.Y32968= Synonymous 353/363 - 1
2-179403763-C-T c.98899G>A p.E32967K Missense 353/363 - 3
2-179403765-G-A c.98897C>T p.A32966V Missense 353/363 - 2
2-179403766-C-T c.98896G>A p.A32966T Missense 353/363 - 1
2-179403769-C-T c.98893G>A p.D32965N Missense 353/363 - 1
2-179403774-A-G c.98888T>C p.V32963A Missense 353/363 - 1
2-179403781-C-T c.98881G>A p.G32961R Missense 353/363 - 1
2-179403781-C-G c.98881G>C p.G32961R Missense 353/363 - 1
2-179403783-G-T c.98879C>A p.T32960K Missense 353/363 - 1
2-179403789-G-A c.98873C>T p.T32958I Missense 353/363 - 2
2-179403791-G-T c.98871C>A p.Y32957* Nonsense 353/363 - 1
2-179403795-A-G c.98867T>C p.M32956T Missense 353/363 - 1
2-179403795-ATTG-A c.98864_98866del p.T32955del InFrameDeletion 353/363 - 1
2-179403798-G-A c.98864C>T p.T32955I Missense 353/363 - 1
2-179403800-G-A c.98862C>T p.T32954= Synonymous 353/363 - 1
2-179403801-G-A c.98861C>T p.T32954I Missense 353/363 - 1
2-179403808-T-A c.98854A>T p.I32952F Missense 353/363 - 2
2-179403811-G-T c.98851C>A p.Q32951K Missense 353/363 - 1
2-179403830-C-A c.98832G>T p.W32944C Missense 353/363 - 1
2-179403830-C-G c.98832G>C p.W32944C Missense 353/363 - 1
2-179403836-G-C c.98826C>G p.D32942E Missense 353/363 - 1
2-179403840-G-A c.98822C>T p.T32941I Missense 353/363 - 1
2-179403847-T-A c.98815A>T p.T32939S Missense 353/363 - 1
2-179403855-C-T c.98807G>A p.R32936H Missense 353/363 - 4
2-179403856-G-T c.98806C>A p.R32936S Missense 353/363 - 1
2-179403856-G-A c.98806C>T p.R32936C Missense 353/363 - 1
2-179403859-C-A c.98803G>T p.E32935* Nonsense 353/363 - 1
2-179403859-C-T c.98803G>A p.E32935K Missense 353/363 - 3
2-179403861-A-T c.98801T>A p.I32934N Missense 353/363 - 1
2-179403868-A-G c.98794T>C p.Y32932H Missense 353/363 - 1
2-179403869-G-A c.98793C>T p.G32931= Synonymous 353/363 - 2
2-179403869-G-C c.98793C>G p.G32931= Synonymous 353/363 - 1
2-179403869-G-T c.98793C>A p.G32931= Synonymous 353/363 - 1
2-179403869-GCC-TCA c.98791_98793delinsTGA p.G32931* Nonsense 353/363 - 1
2-179403871-C-T c.98791G>A p.G32931S Missense 353/363 - 2
2-179403871-C-A c.98791G>T p.G32931C Missense 353/363 - 1
2-179403878-T-G c.98784A>C p.R32928S Missense 353/363 - 1
2-179403878-T-A c.98784A>T p.R32928S Missense 353/363 - 1
2-179403892-C-A c.98770G>T p.D32924Y Missense 353/363 - 1
2-179403892-C-T c.98770G>A p.D32924N Missense 353/363 - 1
2-179403899-G-T c.98763C>A p.P32921= Synonymous 353/363 - 2
2-179403899-G-A c.98763C>T p.P32921= Synonymous 353/363 - 1
2-179403899-G-C c.98763C>G p.P32921= Synonymous 353/363 - 1
2-179403903-C-T c.98759G>A p.R32920Q Missense 353/363 - 2
2-179403904-G-A c.98758C>T p.R32920W Missense 353/363 - 2
2-179403906-G-A c.98756C>T p.S32919F Missense 353/363 - 1
2-179403912-G-A c.98750C>T p.S32917F Missense 353/363 - 3
2-179403919-T-A c.98743A>T p.S32915C Missense 353/363 - 1
2-179403924-G-A c.98738C>T p.S32913F Missense 353/363 - 1
2-179403929-C-T c.98733G>A p.K32911= Synonymous 353/363 - 1
2-179403929-C-G c.98733G>C p.K32911N Missense 353/363 - 1
2-179403933-G-A c.98729C>T p.T32910I Missense 353/363 - 2
2-179403937-C-T c.98725G>A p.V32909I Missense 353/363 - 1
2-179403940-C-T c.98722G>A p.D32908N Missense 353/363 - 4
2-179403943-G-A c.98719C>T p.L32907F Missense 353/363 - 1
2-179403946-C-T c.98716G>A p.V32906I Missense 353/363 - 1
2-179403949-C-T c.98713G>A p.E32905K Missense 353/363 - 1
2-179403950-TGGA-T c.98709_98711del p.P32904del InFrameDeletion 353/363 - 1
2-179403960-CT-AA c.98701_98702delinsTT p.S32901F Missense 353/363 - 1
2-179403975-G-T c.98687C>A p.P32896H Missense 353/363 - 1
2-179403976-G-T c.98686C>A p.P32896T Missense 353/363 - 2
2-179404059-G-A c.98683+50C>T - IntronicSNV - 352/362 1
2-179404106-T-G c.98683+3A>C - IntronicSNV - 352/362 1
2-179404112-A-G c.98680T>C p.L32894= Synonymous 352/363 - 1
2-179404115-G-A c.98677C>T p.P32893S Missense 352/363 - 2
2-179404124-G-A c.98668C>T p.P32890S Missense 352/363 - 2
2-179404126-G-A c.98666C>T p.T32889I Missense 352/363 - 1
2-179404133-G-A c.98659C>T p.P32887S Missense 352/363 - 1
2-179404133-G-T c.98659C>A p.P32887T Missense 352/363 - 1
2-179404133-G-C c.98659C>G p.P32887A Missense 352/363 - 1
2-179404131-TG-T c.98660del p.P32887Qfs*8 Frameshift 352/363 - 1
2-179404134-T-C c.98658A>G p.E32886= Synonymous 352/363 - 1
2-179404135-T-A c.98657A>T p.E32886V Missense 352/363 - 1
2-179404136-C-T c.98656G>A p.E32886K Missense 352/363 - 2
2-179404138-T-A c.98654A>T p.E32885V Missense 352/363 - 1
2-179404141-G-C c.98651C>G p.S32884C Missense 352/363 - 1
2-179404141-G-A c.98651C>T p.S32884F Missense 352/363 - 1
2-179404141-G-GA c.98650dup p.S32884Ffs*2 Frameshift 352/363 - 2
2-179404142-A-T c.98650T>A p.S32884T Missense 352/363 - 1
2-179404155-G-C c.98637C>G p.S32879R Missense 352/363 - 1
2-179404155-G-T c.98637C>A p.S32879R Missense 352/363 - 1
2-179404157-T-G c.98635A>C p.S32879R Missense 352/363 - 1
2-179404157-T-A c.98635A>T p.S32879C Missense 352/363 - 1
2-179404161-GC-CT c.98630_98631delinsAG p.G32877E Missense 352/363 - 2
2-179404162-C-T c.98630G>A p.G32877D Missense 352/363 - 2
2-179404162-C-G c.98630G>C p.G32877A Missense 352/363 - 1
2-179404164-A-G c.98628T>C p.F32876= Synonymous 352/363 - 1
2-179404171-T-C c.98621A>G p.N32874S Missense 352/363 - 1
2-179404172-T-A c.98620A>T p.N32874Y Missense 352/363 - 1
2-179404175-C-T c.98617G>A p.E32873K Missense 352/363 - 1
2-179404177-G-A c.98615C>T p.A32872V Missense 352/363 - 1
2-179404178-C-A c.98614G>T p.A32872S Missense 352/363 - 1
2-179404182-A-G c.98610T>C p.V32870= Synonymous 352/363 - 1
2-179404185-A-T c.98607T>A p.R32869= Synonymous 352/363 - 1
2-179404186-C-T c.98606G>A p.R32869H Missense 352/363 - 2
2-179404186-C-G c.98606G>C p.R32869P Missense 352/363 - 2
2-179404187-G-A c.98605C>T p.R32869C Missense 352/363 - 1
2-179404188-GA-G c.98603del p.F32868Sfs*11 Frameshift 352/363 - 1
2-179404193-G-C c.98599C>G p.H32867D Missense 352/363 - 1
2-179404194-G-A c.98598C>T p.Y32866= Synonymous 352/363 - 2
2-179404197-T-C c.98595A>G p.E32865= Synonymous 352/363 - 2
2-179404203-A-G c.98589T>C p.N32863= Synonymous 352/363 - 1
2-179404210-T-G c.98582A>C p.K32861T Missense 352/363 - 1
2-179404217-C-T c.98575G>A p.G32859S Missense 352/363 - 1
2-179404219-T-G c.98573A>C p.K32858T Missense 352/363 - 1
2-179404223-CCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATACCAGGCGGCTTTAGG-C c.98515_98568del p.P32839_V32856del InFrameDeletion 352/363 - 1
2-179404228-A-G c.98564T>C p.L32855P Missense 352/363 - 1
2-179404231-G-A c.98561C>T p.S32854F Missense 352/363 - 1
2-179404236-A-G c.98556T>C p.G32852= Synonymous 352/363 - 1
2-179404238-C-T c.98554G>A p.G32852S Missense 352/363 - 1
2-179404240-C-T c.98552G>A p.R32851Q Missense 352/363 - 2
2-179404241-G-A c.98551C>T p.R32851* Nonsense 352/363 - 3
2-179404242-G-A c.98550C>T p.V32850= Synonymous 352/363 - 1
2-179404264-C-T c.98528G>A p.W32843* Nonsense 352/363 - 2
2-179404263-C-T c.98529G>A p.W32843* Nonsense 352/363 - 1
2-179404268-C-A c.98524G>T p.A32842S Missense 352/363 - 2
2-179404268-C-T c.98524G>A p.A32842T Missense 352/363 - 1
2-179404270-G-A c.98522C>T p.A32841V Missense 352/363 - 1
2-179404270-G-T c.98522C>A p.A32841D Missense 352/363 - 2
2-179404277-G-T c.98515C>A p.P32839T Missense 352/363 - 1
2-179404279-A-C c.98513T>G p.V32838G Missense 352/363 - 1
2-179404280-C-T c.98512G>A p.V32838M Missense 352/363 - 1
2-179404286-G-A c.98506C>T p.R32836* Nonsense 352/363 - 8
2-179404286-GTC-G c.98504_98505del p.R32835Tfs*5 Frameshift 352/363 - 1
2-179404292-C-A c.98500G>T p.E32834* Nonsense 352/363 - 1
2-179404292-C-T c.98500G>A p.E32834K Missense 352/363 - 2
2-179404293-G-A c.98499C>T p.L32833= Synonymous 352/363 - 3
2-179404293-G-C c.98499C>G p.L32833= Synonymous 352/363 - 1
2-179404293-G-T c.98499C>A p.L32833= Synonymous 352/363 - 1
2-179404296-G-GA c.98495dup p.L32833Pfs*8 Frameshift 352/363 - 1
2-179404299-G-A c.98493C>T p.Y32831= Synonymous 352/363 - 1
2-179404300-T-C c.98492A>G p.Y32831C Missense 352/363 - 1
2-179404302-G-A c.98490C>T p.G32830= Synonymous 352/363 - 1
2-179404302-G-C c.98490C>G p.G32830= Synonymous 352/363 - 1
2-179404302-G-T c.98490C>A p.G32830= Synonymous 352/363 - 1
2-179404303-C-T c.98489G>A p.G32830D Missense 352/363 - 1
2-179404310-T-C c.98482A>G p.I32828V Missense 352/363 - 2
2-179404312-T-C c.98480A>G p.D32827G Missense 352/363 - 1
2-179404313-C-T c.98479G>A p.D32827N Missense 352/363 - 1
2-179404316-C-A c.98476G>T p.A32826S Missense 352/363 - 1
2-179404322-C-A c.98470G>T p.G32824C Missense 352/363 - 1
2-179404323-A-G c.98469T>C p.D32823= Synonymous 352/363 - 1
2-179404326-A-G c.98466T>C p.D32822= Synonymous 352/363 - 1
2-179404327-T-G c.98465A>C p.D32822A Missense 352/363 - 1
2-179404327-T-C c.98465A>G p.D32822G Missense 352/363 - 1
2-179404328-C-T c.98464G>A p.D32822N Missense 352/363 - 1
2-179404331-C-T c.98461G>A p.A32821T Missense 352/363 - 3
2-179404334-G-A c.98458C>T p.P32820S Missense 352/363 - 1
2-179404334-G-C c.98458C>G p.P32820A Missense 352/363 - 1
2-179404336-G-A c.98456C>T p.P32819L Missense 352/363 - 1
2-179404336-G-T c.98456C>A p.P32819H Missense 352/363 - 2
2-179404336-G-C c.98456C>G p.P32819R Missense 352/363 - 1
2-179404339-C-T c.98453G>A p.R32818K Missense 352/363 - 1
2-179404350-CCT-ATG c.98440_98442delinsCAT p.R32814H Missense 352/363 - 3
2-179404351-C-T c.98441G>A p.R32814K Missense 352/363 - 1
2-179404351-C-A c.98441G>T p.R32814M Missense 352/363 - 1
2-179404351-C-G c.98441G>C p.R32814T Missense 352/363 - 1
2-179404353-C-T c.98439G>A p.V32813= Synonymous 352/363 - 1
2-179404353-C-G c.98439G>C p.V32813= Synonymous 352/363 - 1
2-179404353-C-A c.98439G>T p.V32813= Synonymous 352/363 - 1
2-179404360-CG-C c.98431del p.R32811Afs*3 Frameshift 352/363 - 1
2-179404363-A-G c.98429T>C p.V32810A Missense 352/363 - 1
2-179404366-T-G c.98426A>C p.Q32809P Missense 352/363 - 1
2-179404367-G-A c.98425C>T p.Q32809* Nonsense 352/363 - 2
2-179404367-G-T c.98425C>A p.Q32809K Missense 352/363 - 1
2-179404370-T-TCC c.98421_98422insGG p.I32808Gfs*7 Frameshift 352/363 - 1
2-179404375-T-TC c.98416dup p.D32806Gfs*2 Frameshift 352/363 - 1
2-179404388-G-A c.98404C>T p.P32802S Missense 352/363 - 2
2-179404388-G-T c.98404C>A p.P32802T Missense 352/363 - 1
2-179404391-C-T c.98401G>A p.G32801R Missense 352/363 - 1
2-179404399-C-A c.98393G>T p.S32798I Missense 352/363 - 1
2-179404399-C-G c.98393G>C p.S32798T Missense 352/363 - 3
2-179404402-T-C c.98390A>G p.N32797S Missense 352/363 - 7
2-179404402-T-G c.98390A>C p.N32797T Missense 352/363 - 2
2-179404403-T-C c.98389A>G p.N32797D Missense 352/363 - 1
2-179404406-G-C c.98386C>G p.P32796A Missense 352/363 - 1
2-179404411-C-T c.98381G>A p.G32794E Missense 352/363 - 1
2-179404412-C-T c.98380G>A p.G32794R Missense 352/363 - 1
2-179404412-C-G c.98380G>C p.G32794R Missense 352/363 - 1
2-179404413-TAT-AAA c.98377_98379delinsTTT p.I32793F Missense 352/363 - 1
2-179404414-A-G c.98378T>C p.I32793T Missense 352/363 - 1
2-179404417-A-T c.98375T>A p.V32792E Missense 352/363 - 1
2-179404420-C-T c.98372G>A p.R32791K Missense 352/363 - 3
2-179404423-A-T c.98369T>A p.V32790D Missense 352/363 - 1
2-179404426-T-C c.98366A>G p.K32789R Missense 352/363 - 1
2-179404438-G-A c.98354C>T p.A32785V Missense 352/363 - 1
2-179404439-C-T c.98353G>A p.A32785T Missense 352/363 - 2
2-179404443-C-G c.98349G>C p.K32783N Missense 352/363 - 1
2-179404443-C-A c.98349G>T p.K32783N Missense 352/363 - 1
2-179404444-T-C c.98348A>G p.K32783R Missense 352/363 - 1
2-179404446-G-A c.98346C>T p.G32782= Synonymous 352/363 - 1
2-179404447-C-A c.98345G>T p.G32782V Missense 352/363 - 1
2-179404447-C-G c.98345G>C p.G32782A Missense 352/363 - 1
2-179404448-C-T c.98344G>A p.G32782S Missense 352/363 - 1
2-179404451-A-G c.98341T>C p.C32781R Missense 352/363 - 2
2-179404460-C-T c.98332G>A p.E32778K Missense 352/363 - 1
2-179404469-G-C c.98323C>G p.L32775V Missense 352/363 - 1
2-179404476-A-G c.98316T>C p.T32772= Synonymous 352/363 - 1
2-179404481-C-T c.98311G>A p.G32771S Missense 352/363 - 1
2-179404487-C-T c.98305G>A p.D32769N Missense 352/363 - 5
2-179404492-CCT-C c.98299_98300del p.R32767Gfs*2 Frameshift 352/363 - 5
2-179404493-CT-C c.98299del p.R32767Gfs*26 Frameshift 352/363 - 1
2-179404495-T-A c.98297A>T p.D32766V Missense 352/363 - 1
2-179404496-C-T c.98296G>A p.D32766N Missense 352/363 - 1
2-179404496-C-A c.98296G>T p.D32766Y Missense 352/363 - 2
2-179404498-G-C c.98294C>G p.A32765G Missense 352/363 - 10
2-179404499-C-T c.98293G>A p.A32765T Missense 352/363 - 2
2-179404501-T-G c.98291A>C p.E32764A Missense 352/363 - 1
2-179404506-G-T c.98286C>A p.I32762= Synonymous 352/363 - 1
2-179404506-G-A c.98286C>T p.I32762= Synonymous 352/363 - 1
2-179404517-TC-T c.98275del p.E32759Sfs*3 Frameshift 352/363 - 1
2-179404517-C-T c.98275G>A p.E32759K Missense 352/363 - 1
2-179404519-G-C c.98273C>G p.T32758S Missense 352/363 - 1
2-179404520-T-A c.98272A>T p.T32758S Missense 352/363 - 1
2-179404521-G-A c.98271C>T p.H32757= Synonymous 352/363 - 1
2-179404525-G-A c.98267C>T p.T32756I Missense 352/363 - 3
2-179404529-C-G c.98263G>C p.E32755Q Missense 352/363 - 1
2-179404529-C-T c.98263G>A p.E32755K Missense 352/363 - 1
2-179404530-A-C c.98262T>G p.S32754= Synonymous 352/363 - 1
2-179404531-G-T c.98261C>A p.S32754Y Missense 352/363 - 1
2-179404537-G-A c.98255C>T p.A32752V Missense 352/363 - 1
2-179404538-C-T c.98254G>A p.A32752T Missense 352/363 - 1
2-179404540-A-G c.98252T>C p.I32751T Missense 352/363 - 1
2-179404546-G-T c.98246C>A p.A32749D Missense 352/363 - 2
2-179404549-C-A c.98243G>T p.R32748L Missense 352/363 - 1
2-179404549-C-T c.98243G>A p.R32748H Missense 352/363 - 3
2-179404550-G-A c.98242C>T p.R32748C Missense 352/363 - 7
2-179404556-T-C c.98236A>G p.S32746G Missense 352/363 - 1
2-179404560-A-G c.98232T>C p.D32744= Synonymous 352/363 - 1
2-179404563-C-T c.98229G>A p.Q32743= Synonymous 352/363 - 1
2-179404571-C-G c.98221G>C p.E32741Q Missense 352/363 - 1
2-179404572-C-T c.98220G>A p.K32740= Synonymous 352/363 - 1
2-179404573-T-A c.98219A>T p.K32740M Missense 352/363 - 1
2-179404576-G-T c.98216C>A p.T32739N Missense 352/363 - 1
2-179404578-C-G c.98214G>C p.W32738C Missense 352/363 - 1
2-179404579-C-T c.98213G>A p.W32738* Nonsense 352/363 - 2
2-179404578-C-T c.98214G>A p.W32738* Nonsense 352/363 - 2
2-179404588-A-G c.98204T>C p.I32735T Missense 352/363 - 2
2-179404589-T-G c.98203A>C p.I32735L Missense 352/363 - 1
2-179404589-T-C c.98203A>G p.I32735V Missense 352/363 - 3
2-179404592-G-A c.98200C>T p.P32734S Missense 352/363 - 1
2-179404598-G-A c.98194C>T p.P32732S Missense 352/363 - 1
2-179404603-C-T c.98189G>A p.G32730E Missense 352/363 - 3
2-179404609-A-T c.98183T>A p.I32728N Missense 352/363 - 1
2-179404614-T-G c.98178A>C p.I32726= Synonymous 352/363 - 1
2-179404614-T-C c.98178A>G p.I32726M Missense 352/363 - 1
2-179404615-A-G c.98177T>C p.I32726T Missense 352/363 - 1
2-179404619-T-C c.98173A>G p.T32725A Missense 352/363 - 1
2-179404621-A-G c.98171T>C p.L32724P Missense 352/363 - 1
2-179404623-T-C c.98169A>G p.R32723= Synonymous 352/363 - 1
2-179404623-T-G c.98169A>C p.R32723S Missense 352/363 - 1
2-179404624-C-G c.98168G>C p.R32723T Missense 352/363 - 1
2-179404628-T-A c.98164A>T p.I32722F Missense 352/363 - 12
2-179404631-C-T c.98161G>A p.V32721I Missense 352/363 - 5
2-179404632-G-A c.98160C>T p.G32720= Synonymous 352/363 - 2
2-179404632-G-C c.98160C>G p.G32720= Synonymous 352/363 - 1
2-179404657-T-A c.98135A>T p.E32712V Missense 352/363 - 1
2-179404655-CT-C c.98136del p.G32713Vfs*4 Frameshift 352/363 - 1
2-179404658-C-A c.98134G>T p.E32712* Nonsense 352/363 - 1
2-179404667-T-A c.98125A>T p.R32709* Nonsense 352/363 - 1
2-179404670-C-T c.98122G>A p.E32708K Missense 352/363 - 1
2-179404673-C-G c.98119G>C p.D32707H Missense 352/363 - 1
2-179404679-C-T c.98113G>A p.E32705K Missense 352/363 - 2
2-179404685-C-T c.98107G>A p.D32703N Missense 352/363 - 1
2-179404687-G-T c.98105C>A p.P32702H Missense 352/363 - 1
2-179404686-AG-A c.98105del p.P32702Lfs*15 Frameshift 352/363 - 1
2-179404688-G-T c.98104C>A p.P32702T Missense 352/363 - 1
2-179404692-T-G c.98100A>C p.E32700D Missense 352/363 - 1
2-179404692-T-A c.98100A>T p.E32700D Missense 352/363 - 1
2-179404786-A-T c.98098+9T>A - IntronicSNV - 351/362 2
2-179404795-C-T c.98098G>A p.E32700K Missense 351/363 - 1
2-179404802-T-G c.98091A>C p.E32697D Missense 351/363 - 1
2-179404803-T-C c.98090A>G p.E32697G Missense 351/363 - 1
2-179404804-C-T c.98089G>A p.E32697K Missense 351/363 - 1
2-179404810-C-A c.98083G>T p.V32695F Missense 351/363 - 1
2-179404811-T-C c.98082A>G p.K32694= Synonymous 351/363 - 1
2-179404814-G-T c.98079C>A p.V32693= Synonymous 351/363 - 1
2-179404815-A-C c.98078T>G p.V32693G Missense 351/363 - 1
2-179404818-GT-G c.98074del p.T32692Qfs*25 Frameshift 351/363 - 1
2-179404824-G-A c.98069C>T p.P32690L Missense 351/363 - 1
2-179404824-G-C c.98069C>G p.P32690R Missense 351/363 - 1
2-179404825-G-T c.98068C>A p.P32690T Missense 351/363 - 1
2-179404825-G-C c.98068C>G p.P32690A Missense 351/363 - 1
2-179404825-G-A c.98068C>T p.P32690S Missense 351/363 - 2
2-179404827-A-T c.98066T>A p.V32689E Missense 351/363 - 1
2-179404828-C-T c.98065G>A p.V32689I Missense 351/363 - 1
2-179404832-A-C c.98061T>G p.A32687= Synonymous 351/363 - 1
2-179404834-C-G c.98059G>C p.A32687P Missense 351/363 - 2
2-179404839-T-C c.98054A>G p.E32685G Missense 351/363 - 1
2-179404840-C-T c.98053G>A p.E32685K Missense 351/363 - 1
2-179404840-C-A c.98053G>T p.E32685* Nonsense 351/363 - 2
2-179404842-C-T c.98051G>A p.G32684D Missense 351/363 - 2
2-179404842-C-G c.98051G>C p.G32684A Missense 351/363 - 1
2-179404852-C-CATTG c.98040_98041insCAAT p.G32681Qfs*6 Frameshift 351/363 - 1
2-179404855-C-T c.98038G>A p.A32680T Missense 351/363 - 1
2-179404859-A-T c.98034T>A p.C32678* Nonsense 351/363 - 1
2-179404870-C-T c.98023G>A p.V32675I Missense 351/363 - 7
2-179404872-C-T c.98021G>A p.R32674H Missense 351/363 - 2
2-179404873-G-A c.98020C>T p.R32674C Missense 351/363 - 2
2-179404878-C-T c.98015G>A p.R32672K Missense 351/363 - 3
2-179404885-C-T c.98008G>A p.E32670K Missense 351/363 - 1
2-179404886-T-G c.98007A>C p.A32669= Synonymous 351/363 - 1
2-179404886-T-C c.98007A>G p.A32669= Synonymous 351/363 - 1
2-179404886-T-A c.98007A>T p.A32669= Synonymous 351/363 - 1
2-179404905-G-A c.97988C>T p.T32663I Missense 351/363 - 1
2-179404905-G-T c.97988C>A p.T32663K Missense 351/363 - 1
2-179404906-T-C c.97987A>G p.T32663A Missense 351/363 - 1
2-179404910-A-T c.97983T>A p.T32661= Synonymous 351/363 - 1
2-179404910-A-C c.97983T>G p.T32661= Synonymous 351/363 - 1
2-179404910-A-G c.97983T>C p.T32661= Synonymous 351/363 - 1
2-179404913-A-T c.97980T>A p.Y32660* Nonsense 351/363 - 1
2-179404920-C-T c.97973G>A p.R32658Q Missense 351/363 - 2
2-179404939-T-C c.97954A>G p.T32652A Missense 351/363 - 1
2-179404943-A-T c.97950T>A p.C32650* Nonsense 351/363 - 1
2-179404944-C-T c.97949G>A p.C32650Y Missense 351/363 - 1
2-179404950-G-T c.97943C>A p.T32648N Missense 351/363 - 1
2-179404952-C-T c.97941G>A p.W32647* Nonsense 351/363 - 2
2-179404953-C-T c.97940G>A p.W32647* Nonsense 351/363 - 1
2-179404961-T-A c.97932A>T p.Q32644H Missense 351/363 - 1
2-179404961-T-G c.97932A>C p.Q32644H Missense 351/363 - 1
2-179404966-C-T c.97927G>A p.D32643N Missense 351/363 - 5
2-179404970-T-G c.97923A>C p.K32641N Missense 351/363 - 1
2-179404970-T-A c.97923A>T p.K32641N Missense 351/363 - 1
2-179404975-G-A c.97918C>T p.Q32640* Nonsense 351/363 - 1
2-179404976-C-G c.97917G>C p.M32639I Missense 351/363 - 1
2-179404976-C-T c.97917G>A p.M32639I Missense 351/363 - 1
2-179404976-C-A c.97917G>T p.M32639I Missense 351/363 - 1
2-179404977-A-C c.97916T>G p.M32639R Missense 351/363 - 1
2-179404983-A-G c.97910T>C p.I32637T Missense 351/363 - 4
2-179404992-C-T c.97901G>A p.G32634D Missense 351/363 - 1
2-179405001-T-A c.97892A>T p.K32631I Missense 351/363 - 1
2-179405008-C-A c.97885G>T p.G32629* Nonsense 351/363 - 1
2-179405008-C-T c.97885G>A p.G32629R Missense 351/363 - 1
2-179405011-C-T c.97882G>A p.G32628R Missense 351/363 - 1
2-179405011-C-A c.97882G>T p.G32628* Nonsense 351/363 - 1
2-179405025-A-G c.97868T>C p.V32623A Missense 351/363 - 1
2-179405026-C-T c.97867G>A p.V32623I Missense 351/363 - 1
2-179405027-ACT-TCA c.97864_97866delinsTGA p.S32622* Nonsense 351/363 - 1
2-179405028-CT-AG c.97864_97865inv p.S32622L Missense 351/363 - 1
2-179405028-C-G c.97865G>C p.S32622T Missense 351/363 - 1
2-179405028-C-T c.97865G>A p.S32622N Missense 351/363 - 2
2-179405029-T-A c.97864A>T p.S32622C Missense 351/363 - 1
2-179405030-C-T c.97863G>A p.W32621* Nonsense 351/363 - 1
2-179405034-G-A c.97859C>T p.A32620V Missense 351/363 - 2
2-179405043-A-G c.97850T>C p.V32617A Missense 351/363 - 1
2-179405046-G-A c.97847C>T p.S32616L Missense 351/363 - 1
2-179405052-C-T c.97841G>A p.R32614K Missense 351/363 - 1
2-179405055-G-A c.97838C>T p.T32613I Missense 351/363 - 1
2-179405056-T-G c.97837A>C p.T32613P Missense 351/363 - 1
2-179405058-G-A c.97835C>T p.T32612I Missense 351/363 - 1
2-179405065-T-C c.97828A>G p.T32610A Missense 351/363 - 1
2-179405066-AAC-CAT c.97825_97827delinsATG p.V32609M Missense 351/363 - 1
2-179405068-C-T c.97825G>A p.V32609I Missense 351/363 - 1
2-179405070-C-T c.97823G>A p.R32608K Missense 351/363 - 1
2-179405080-G-A c.97813C>T p.Q32605* Nonsense 351/363 - 1
2-179405094-G-A c.97799C>T p.P32600L Missense 351/363 - 1
2-179405097-G-C c.97796C>G p.A32599G Missense 351/363 - 1
2-179405807-A-G c.97795+202T>C - IntronicSNV - 350/362 1
2-179406003-C-A c.97795+6G>T - IntronicSNV - 350/362 2
2-179406009-C-T c.97795G>A p.A32599T Missense 350/363 - 1
2-179406012-T-C c.97792A>G p.I32598V Missense 350/363 - 1
2-179406023-GC-CA c.97780_97781delinsTG p.A32594C Missense 350/363 - 1
2-179406024-C-T c.97780G>A p.A32594T Missense 350/363 - 2
2-179406027-C-T c.97777G>A p.V32593I Missense 350/363 - 1
2-179406033-G-A c.97771C>T p.P32591S Missense 350/363 - 1
2-179406035-T-C c.97769A>G p.K32590R Missense 350/363 - 1
2-179406040-A-C c.97764T>G p.P32588= Synonymous 350/363 - 1
2-179406040-A-T c.97764T>A p.P32588= Synonymous 350/363 - 1
2-179406040-A-G c.97764T>C p.P32588= Synonymous 350/363 - 1
2-179406041-G-A c.97763C>T p.P32588L Missense 350/363 - 2
2-179406044-C-T c.97760G>A p.R32587H Missense 350/363 - 5
2-179406044-C-G c.97760G>C p.R32587P Missense 350/363 - 1
2-179406045-G-A c.97759C>T p.R32587C Missense 350/363 - 1
2-179406056-C-T c.97748G>A p.G32583E Missense 350/363 - 1
2-179406057-C-T c.97747G>A p.G32583R Missense 350/363 - 2
2-179406061-C-A c.97743G>T p.G32581= Synonymous 350/363 - 1
2-179406061-C-T c.97743G>A p.G32581= Synonymous 350/363 - 1
2-179406061-C-G c.97743G>C p.G32581= Synonymous 350/363 - 1
2-179406062-C-A c.97742G>T p.G32581V Missense 350/363 - 1
2-179406075-T-A c.97729A>T p.I32577F Missense 350/363 - 1
2-179406078-C-T c.97726G>A p.A32576T Missense 350/363 - 1
2-179406081-T-G c.97723A>C p.T32575P Missense 350/363 - 1
2-179406087-G-A c.97717C>T p.R32573C Missense 350/363 - 2
2-179406093-C-T c.97711G>A p.E32571K Missense 350/363 - 1
2-179406097-T-A c.97707A>T p.E32569D Missense 350/363 - 1
2-179406098-T-A c.97706A>T p.E32569V Missense 350/363 - 1
2-179406099-C-A c.97705G>T p.E32569* Nonsense 350/363 - 1
2-179406104-C-A c.97700G>T p.G32567V Missense 350/363 - 1
2-179406102-AGCCTTCAGTAAG-A c.97690_97701del p.T32565_L32568del InFrameDeletion 350/363 - 1
2-179406106-T-A c.97698A>T p.E32566D Missense 350/363 - 2
2-179406108-C-T c.97696G>A p.E32566K Missense 350/363 - 1
2-179406110-G-T c.97694C>A p.T32565N Missense 350/363 - 1
2-179406114-G-T c.97690C>A p.L32564I Missense 350/363 - 1
2-179406116-C-G c.97688G>C p.G32563A Missense 350/363 - 1
2-179406131-C-T c.97673G>A p.R32558Q Missense 350/363 - 1
2-179406133-TG-CA c.97670_97671inv p.T32557M Missense 350/363 - 1
2-179406134-G-A c.97670C>T p.T32557I Missense 350/363 - 3
2-179406135-T-C c.97669A>G p.T32557A Missense 350/363 - 2
2-179406135-T-A c.97669A>T p.T32557S Missense 350/363 - 1
2-179406161-C-T c.97643G>A p.R32548H Missense 350/363 - 2
2-179406162-G-A c.97642C>T p.R32548C Missense 350/363 - 2
2-179406163-G-A c.97641C>T p.V32547= Synonymous 350/363 - 1
2-179406165-C-T c.97639G>A p.V32547I Missense 350/363 - 3
2-179406167-C-A c.97637G>T p.W32546L Missense 350/363 - 1
2-179406171-G-A c.97633C>T p.R32545* Nonsense 350/363 - 2
2-179406174-C-A c.97630G>T p.D32544Y Missense 350/363 - 1
2-179406176-G-C c.97628C>G p.A32543G Missense 350/363 - 1
2-179406177-C-G c.97627G>C p.A32543P Missense 350/363 - 1
2-179406177-C-CA c.97626_97627insT p.A32543Cfs*9 Frameshift 350/363 - 1
2-179406177-C-T c.97627G>A p.A32543T Missense 350/363 - 4
2-179406179-C-G c.97625G>C p.R32542T Missense 350/363 - 1
2-179406183-C-T c.97621G>A p.V32541M Missense 350/363 - 1
2-179406183-C-A c.97621G>T p.V32541L Missense 350/363 - 1
2-179406190-G-T c.97614C>A p.R32538= Synonymous 350/363 - 2
2-179406190-G-C c.97614C>G p.R32538= Synonymous 350/363 - 2
2-179406190-G-A c.97614C>T p.R32538= Synonymous 350/363 - 2
2-179406191-C-T c.97613G>A p.R32538H Missense 350/363 - 21
2-179406192-G-A c.97612C>T p.R32538C Missense 350/363 - 1
2-179406196-C-T c.97608G>A p.V32536= Synonymous 350/363 - 2
2-179406198-C-T c.97606G>A p.V32536M Missense 350/363 - 1
2-179406199-A-C c.97605T>G p.I32535M Missense 350/363 - 1
2-179406200-A-G c.97604T>C p.I32535T Missense 350/363 - 1
2-179406209-G-A c.97595C>T p.T32532I Missense 350/363 - 2
2-179406214-T-A c.97590A>T p.Q32530H Missense 350/363 - 1
2-179406214-T-G c.97590A>C p.Q32530H Missense 350/363 - 1
2-179406225-C-T c.97579G>A p.G32527S Missense 350/363 - 1
2-179406225-C-A c.97579G>T p.G32527C Missense 350/363 - 1
2-179406226-G-C c.97578C>G p.D32526E Missense 350/363 - 1
2-179406227-T-C c.97577A>G p.D32526G Missense 350/363 - 1
2-179406230-ATCCTCTGGTGGGTACCAAGTAAGTGTCAT-A c.97546_97574del p.M32516* Frameshift 350/363 - 1
2-179406233-T-A c.97571A>T p.E32524V Missense 350/363 - 1
2-179406234-C-T c.97570G>A p.E32524K Missense 350/363 - 1
2-179406245-C-T c.97559G>A p.W32520* Nonsense 350/363 - 1
2-179406244-C-T c.97560G>A p.W32520* Nonsense 350/363 - 1
2-179406245-C-G c.97559G>C p.W32520S Missense 350/363 - 1
2-179406246-A-T c.97558T>A p.W32520R Missense 350/363 - 1
2-179406246-A-G c.97558T>C p.W32520R Missense 350/363 - 1
2-179406248-G-T c.97556C>A p.T32519N Missense 350/363 - 1
2-179406251-A-T c.97553T>A p.L32518H Missense 350/363 - 1
2-179406257-A-T c.97547T>A p.M32516K Missense 350/363 - 1
2-179406257-A-G c.97547T>C p.M32516T Missense 350/363 - 1
2-179406264-C-G c.97540G>C p.D32514H Missense 350/363 - 1
2-179406266-C-T c.97538G>A p.R32513H Missense 350/363 - 2
2-179406267-G-A c.97537C>T p.R32513C Missense 350/363 - 2
2-179406267-G-T c.97537C>A p.R32513S Missense 350/363 - 2
2-179406273-C-T c.97531G>A p.V32511I Missense 350/363 - 1
2-179406276-C-T c.97528G>A p.D32510N Missense 350/363 - 1
2-179406278-A-G c.97526T>C p.F32509S Missense 350/363 - 1
2-179406284-T-C c.97520A>G p.Q32507R Missense 350/363 - 1
2-179406286-T-G c.97518A>C p.L32506F Missense 350/363 - 1
2-179406292-T-G c.97512A>C p.E32504D Missense 350/363 - 1
2-179406292-T-A c.97512A>T p.E32504D Missense 350/363 - 1
2-179406294-C-T c.97510G>A p.E32504K Missense 350/363 - 1
2-179406297-G-GAA c.97506_97507insTT p.P32503Ffs*15 Frameshift 350/363 - 1
2-179406299-G-A c.97505C>T p.P32502L Missense 350/363 - 1
2-179406311-C-T c.97493G>A p.R32498H Missense 350/363 - 1
2-179406745-CTCCCTCCTCTTCTCTTTCATAAGAGTGAAGATATTAAAAAAAAAATCAAGCCTAAGTGT-C c.97492+188_97492+246del - SpliceDonorDeletion - 349/362 1
2-179406990-C-T c.97492+1G>A - IntronicSNV - 349/362 1
2-179406990-C-G c.97492+1G>C - IntronicSNV - 349/362 1
2-179406991-G-A c.97492C>T p.R32498C Missense 349/363 - 2
2-179406993-A-G c.97490T>C p.I32497T Missense 349/363