MAPT microtubule associated protein tau

Canonical transcript: NM_016835

1161 unique variant annotations were identified in 1264 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
17-43971785-A-G c.-285A>G - 5_prime_UTR_variant 1/14 - 1
17-43971937-C-A c.-133C>A - 5_prime_UTR_variant 1/14 - 3
17-43971971-C-T c.-99C>T - 5_prime_UTR_variant 1/14 - 1
17-43971986-G-A c.-84G>A - 5_prime_UTR_variant 1/14 - 1
17-43972142-G-A c.-18+90G>A - intron_variant - 1/13 1
17-43972176-C-G c.-18+124C>G - intron_variant - 1/13 2
17-43973121-G-C c.-18+1069G>C - intron_variant - 1/13 1
17-43973121-G-T c.-18+1069G>T - intron_variant - 1/13 1
17-43973413-A-G c.-18+1361A>G - intron_variant - 1/13 3
17-43973498-T-G c.-18+1446T>G - intron_variant - 1/13 13
17-43973899-T-C c.-18+1847T>C - intron_variant - 1/13 1
17-43974065-C-A c.-18+2013C>A - intron_variant - 1/13 1
17-43974065-C-G c.-18+2013C>G - intron_variant - 1/13 1
17-43974230-C-T c.-18+2178C>T - intron_variant - 1/13 1
17-43974354-G-A c.-18+2302G>A - intron_variant - 1/13 1
17-43974477-A-G c.-18+2425A>G - intron_variant - 1/13 3
17-43974477-A-T c.-18+2425A>T - intron_variant - 1/13 3
17-43974549-G-C c.-18+2497G>C - intron_variant - 1/13 1
17-43974594-G-A c.-18+2542G>A - intron_variant - 1/13 2
17-43974889-C-G c.-18+2837C>G - intron_variant - 1/13 2
17-43975263-T-C c.-18+3211T>C - intron_variant - 1/13 2
17-43975415-A-C c.-18+3363A>C - intron_variant - 1/13 1
17-43975415-A-T c.-18+3363A>T - intron_variant - 1/13 1
17-43976627-G-C c.-18+4575G>C - intron_variant - 1/13 2
17-43976627-G-T c.-18+4575G>T - intron_variant - 1/13 2
17-43976684-T-C c.-18+4632T>C - intron_variant - 1/13 2
17-43976813-C-A c.-18+4761C>A - intron_variant - 1/13 3
17-43977702-C-T c.-18+5650C>T - intron_variant - 1/13 3
17-43977827-C-T c.-18+5775C>T - intron_variant - 1/13 34
17-43977846-T-C c.-18+5794T>C - intron_variant - 1/13 1
17-43977846-T-G c.-18+5794T>G - intron_variant - 1/13 1
17-43978320-G-A c.-18+6268G>A - intron_variant - 1/13 2
17-43978534-G-A c.-18+6482G>A - intron_variant - 1/13 16
17-43978625-T-C c.-18+6573T>C - intron_variant - 1/13 4
17-43978988-A-G c.-18+6936A>G - intron_variant - 1/13 5
17-43979822-A-T c.-18+7770A>T - intron_variant - 1/13 4
17-43979971-C-T c.-18+7919C>T - intron_variant - 1/13 5
17-43980530-A-C c.-18+8478A>C - intron_variant - 1/13 3
17-43980998-G-A c.-18+8946G>A - intron_variant - 1/13 1
17-43982961-T-A c.-18+10909T>A - intron_variant - 1/13 2
17-43982961-T-C c.-18+10909T>C - intron_variant - 1/13 2
17-43984399-C-T c.-18+12347C>T - intron_variant - 1/13 2
17-43985597-C-T c.-18+13545C>T - intron_variant - 1/13 1
17-43985636-C-A c.-18+13584C>A - intron_variant - 1/13 4
17-43985636-C-G c.-18+13584C>G - intron_variant - 1/13 4
17-43985636-C-T c.-18+13584C>T - intron_variant - 1/13 4
17-43985723-G-A c.-18+13671G>A - intron_variant - 1/13 1
17-43986179-G-A c.-18+14127G>A - intron_variant - 1/13 36
17-43986396-C-T c.-18+14344C>T - intron_variant - 1/13 2
17-43986992-G-C c.-18+14940G>C - intron_variant - 1/13 1
17-43987184-T-C c.-18+15132T>C - intron_variant - 1/13 3
17-43987723-G-A c.-18+15671G>A - intron_variant - 1/13 3
17-43988205-A-G c.-18+16153A>G - intron_variant - 1/13 2
17-43989909-A-G c.-18+17857A>G - intron_variant - 1/13 2
17-43990072-A-G c.-18+18020A>G - intron_variant - 1/13 2
17-43990919-A-G c.-18+18867A>G - intron_variant - 1/13 4
17-43991272-A-G c.-18+19220A>G - intron_variant - 1/13 25
17-43991515-T-G c.-18+19463T>G - intron_variant - 1/13 1
17-43991553-A-G c.-18+19501A>G - intron_variant - 1/13 1
17-43991781-G-T c.-18+19729G>T - intron_variant - 1/13 5
17-43992233-C-G c.-18+20181C>G - intron_variant - 1/13 1
17-43992233-C-T c.-18+20181C>T - intron_variant - 1/13 1
17-43992244-G-A c.-18+20192G>A - intron_variant - 1/13 2
17-43992244-G-T c.-18+20192G>T - intron_variant - 1/13 2
17-43992283-A-C c.-18+20231A>C - intron_variant - 1/13 3
17-43992283-A-G c.-18+20231A>G - intron_variant - 1/13 3
17-43992581-C-T c.-18+20529C>T - intron_variant - 1/13 1
17-43992943-G-A c.-18+20891G>A - intron_variant - 1/13 4
17-43993376-T-G c.-18+21324T>G - intron_variant - 1/13 9
17-43994252-T-C c.-18+22200T>C - intron_variant - 1/13 2
17-43994386-C-A c.-18+22334C>A - intron_variant - 1/13 2
17-43994623-G-A c.-18+22571G>A - intron_variant - 1/13 3
17-43994648-C-T c.-18+22596C>T - intron_variant - 1/13 41
17-43994763-A-G c.-18+22711A>G - intron_variant - 1/13 1
17-43994952-A-G c.-18+22900A>G - intron_variant - 1/13 2
17-43995098-G-A c.-18+23046G>A - intron_variant - 1/13 2
17-43995990-A-G c.-18+23938A>G - intron_variant - 1/13 4
17-43996140-T-C c.-18+24088T>C - intron_variant - 1/13 2
17-43996561-A-G c.-18+24509A>G - intron_variant - 1/13 1
17-43996561-A-T c.-18+24509A>T - intron_variant - 1/13 1
17-43996908-T-G c.-18+24856T>G - intron_variant - 1/13 3
17-43996960-A-G c.-18+24908A>G - intron_variant - 1/13 2
17-43997372-T-C c.-18+25320T>C - intron_variant - 1/13 4
17-43997499-A-T c.-18+25447A>T - intron_variant - 1/13 2
17-43997520-C-T c.-18+25468C>T - intron_variant - 1/13 3
17-43997901-G-C c.-18+25849G>C - intron_variant - 1/13 5
17-43998328-C-T c.-18+26276C>T - intron_variant - 1/13 5
17-43998574-T-G c.-18+26522T>G - intron_variant - 1/13 3
17-43998822-A-G c.-18+26770A>G - intron_variant - 1/13 1
17-43999203-G-A c.-18+27151G>A - intron_variant - 1/13 2
17-44000234-A-T c.-18+28182A>T - intron_variant - 1/13 6
17-44000505-C-T c.-18+28453C>T - intron_variant - 1/13 1
17-44000610-G-A c.-18+28558G>A - intron_variant - 1/13 3
17-44000610-G-T c.-18+28558G>T - intron_variant - 1/13 3
17-44001379-C-T c.-18+29327C>T - intron_variant - 1/13 7
17-44001621-A-G c.-18+29569A>G - intron_variant - 1/13 1
17-44001661-A-G c.-18+29609A>G - intron_variant - 1/13 4
17-44001957-T-G c.-18+29905T>G - intron_variant - 1/13 4
17-44002138-A-G c.-18+30086A>G - intron_variant - 1/13 6
17-44002250-A-T c.-18+30198A>T - intron_variant - 1/13 4
17-44002271-A-G c.-18+30219A>G - intron_variant - 1/13 3
17-44002431-C-T c.-18+30379C>T - intron_variant - 1/13 4
17-44002555-A-G c.-18+30503A>G - intron_variant - 1/13 8
17-44002595-C-T c.-18+30543C>T - intron_variant - 1/13 4
17-44002632-A-T c.-18+30580A>T - intron_variant - 1/13 1
17-44003893-A-G c.-18+31841A>G - intron_variant - 1/13 4
17-44004442-T-G c.-18+32390T>G - intron_variant - 1/13 2
17-44004472-A-G c.-18+32420A>G - intron_variant - 1/13 3
17-44004924-A-G c.-18+32872A>G - intron_variant - 1/13 3
17-44005254-T-A c.-18+33202T>A - intron_variant - 1/13 2
17-44005254-T-C c.-18+33202T>C - intron_variant - 1/13 2
17-44005297-C-G c.-18+33245C>G - intron_variant - 1/13 1
17-44005297-C-T c.-18+33245C>T - intron_variant - 1/13 1
17-44005329-G-A c.-18+33277G>A - intron_variant - 1/13 2
17-44005413-A-G c.-18+33361A>G - intron_variant - 1/13 4
17-44005615-A-G c.-18+33563A>G - intron_variant - 1/13 4
17-44005821-C-G c.-18+33769C>G - intron_variant - 1/13 4
17-44006085-A-G c.-17-33602A>G - IntronicSNV - 1/13 4
17-44006130-T-C c.-17-33557T>C - IntronicSNV - 1/13 3
17-44006601-T-C c.-17-33086T>C - IntronicSNV - 1/13 11
17-44008101-T-C c.-17-31586T>C - IntronicSNV - 1/13 5
17-44009921-A-G c.-17-29766A>G - IntronicSNV - 1/13 4
17-44010364-C-G c.-17-29323C>G - IntronicSNV - 1/13 3
17-44011018-A-G c.-17-28669A>G - IntronicSNV - 1/13 4
17-44011749-A-G c.-17-27938A>G - IntronicSNV - 1/13 2
17-44011825-A-C c.-17-27862A>C - IntronicSNV - 1/13 3
17-44012343-G-A c.-17-27344G>A - IntronicSNV - 1/13 6
17-44012463-T-C c.-17-27224T>C - IntronicSNV - 1/13 5
17-44012915-T-C c.-17-26772T>C - IntronicSNV - 1/13 2
17-44013024-T-C c.-17-26663T>C - IntronicSNV - 1/13 3
17-44013103-G-A c.-17-26584G>A - IntronicSNV - 1/13 4
17-44013103-G-T c.-17-26584G>T - IntronicSNV - 1/13 4
17-44013189-C-T c.-17-26498C>T - IntronicSNV - 1/13 2
17-44013235-A-G c.-17-26452A>G - IntronicSNV - 1/13 5
17-44013346-T-C c.-17-26341T>C - IntronicSNV - 1/13 3
17-44013483-A-G c.-17-26204A>G - IntronicSNV - 1/13 2
17-44013938-A-G c.-17-25749A>G - IntronicSNV - 1/13 8
17-44013964-T-TC c.-17-25723_-17-25722insC - IntronicInsertion - 1/13 2
17-44013964-T-TCTC c.-17-25723_-17-25722insCTC - IntronicInsertion - 1/13 2
17-44014137-G-T c.-17-25550G>T - IntronicSNV - 1/13 2
17-44014263-T-C c.-17-25424T>C - IntronicSNV - 1/13 3
17-44014384-G-A c.-17-25303G>A - IntronicSNV - 1/13 2
17-44014981-G-A c.-17-24706G>A - IntronicSNV - 1/13 1
17-44014981-G-T c.-17-24706G>T - IntronicSNV - 1/13 1
17-44014982-G-A c.-17-24705G>A - IntronicSNV - 1/13 1
17-44014982-G-T c.-17-24705G>T - IntronicSNV - 1/13 1
17-44015446-A-G c.-17-24241A>G - IntronicSNV - 1/13 3
17-44015464-A-G c.-17-24223A>G - IntronicSNV - 1/13 2
17-44015624-G-A c.-17-24063G>A - IntronicSNV - 1/13 2
17-44015745-A-G c.-17-23942A>G - IntronicSNV - 1/13 2
17-44015816-A-G c.-17-23871A>G - IntronicSNV - 1/13 5
17-44015929-G-A c.-17-23758G>A - IntronicSNV - 1/13 4
17-44016157-G-C c.-17-23530G>C - IntronicSNV - 1/13 3
17-44016341-G-A c.-17-23346G>A - IntronicSNV - 1/13 3
17-44016462-A-G c.-17-23225A>G - IntronicSNV - 1/13 2
17-44017124-G-A c.-17-22563G>A - IntronicSNV - 1/13 3
17-44017124-G-T c.-17-22563G>T - IntronicSNV - 1/13 3
17-44017180-T-G c.-17-22507T>G - IntronicSNV - 1/13 3
17-44017283-A-C c.-17-22404A>C - IntronicSNV - 1/13 3
17-44017283-A-G c.-17-22404A>G - IntronicSNV - 1/13 3
17-44018399-A-G c.-17-21288A>G - IntronicSNV - 1/13 1
17-44018488-T-A c.-17-21199T>A - IntronicSNV - 1/13 1
17-44018488-T-C c.-17-21199T>C - IntronicSNV - 1/13 1
17-44018519-T-C c.-17-21168T>C - IntronicSNV - 1/13 2
17-44018764-G-A c.-17-20923G>A - IntronicSNV - 1/13 6
17-44019479-C-G c.-17-20208C>G - IntronicSNV - 1/13 2
17-44019643-G-A c.-17-20044G>A - IntronicSNV - 1/13 1
17-44019680-T-C c.-17-20007T>C - IntronicSNV - 1/13 2
17-44019712-G-A c.-17-19975G>A - IntronicSNV - 1/13 96
17-44020282-G-A c.-17-19405G>A - IntronicSNV - 1/13 2
17-44020314-C-T c.-17-19373C>T - IntronicSNV - 1/13 2
17-44020545-A-G c.-17-19142A>G - IntronicSNV - 1/13 1
17-44021463-T-C c.-17-18224T>C - IntronicSNV - 1/13 2
17-44021699-G-T c.-17-17988G>T - IntronicSNV - 1/13 1
17-44021717-G-A c.-17-17970G>A - IntronicSNV - 1/13 5
17-44021717-G-C c.-17-17970G>C - IntronicSNV - 1/13 5
17-44022068-G-A c.-17-17619G>A - IntronicSNV - 1/13 2
17-44022528-A-G c.-17-17159A>G - IntronicSNV - 1/13 2
17-44022577-A-C c.-17-17110A>C - IntronicSNV - 1/13 2
17-44023520-T-G c.-17-16167T>G - IntronicSNV - 1/13 1
17-44024562-G-A c.-17-15125G>A - IntronicSNV - 1/13 1
17-44024562-G-T c.-17-15125G>T - IntronicSNV - 1/13 1
17-44024865-T-C c.-17-14822T>C - IntronicSNV - 1/13 1
17-44025033-T-C c.-17-14654T>C - IntronicSNV - 1/13 1
17-44025347-T-C c.-17-14340T>C - IntronicSNV - 1/13 1
17-44025592-G-A c.-17-14095G>A - IntronicSNV - 1/13 2
17-44025592-G-C c.-17-14095G>C - IntronicSNV - 1/13 2
17-44025592-G-T c.-17-14095G>T - IntronicSNV - 1/13 2
17-44025888-C-A c.-17-13799C>A - IntronicSNV - 1/13 12
17-44026321-T-C c.-17-13366T>C - IntronicSNV - 1/13 2
17-44026394-A-G c.-17-13293A>G - IntronicSNV - 1/13 1
17-44026478-A-G c.-17-13209A>G - IntronicSNV - 1/13 2
17-44026548-T-C c.-17-13139T>C - IntronicSNV - 1/13 3
17-44026739-G-A c.-17-12948G>A - IntronicSNV - 1/13 19
17-44029178-G-C c.-17-10509G>C - IntronicSNV - 1/13 2
17-44030115-C-T c.-17-9572C>T - IntronicSNV - 1/13 1
17-44030311-T-G c.-17-9376T>G - IntronicSNV - 1/13 4
17-44031385-C-T c.-17-8302C>T - IntronicSNV - 1/13 1
17-44031540-G-T c.-17-8147G>T - IntronicSNV - 1/13 2
17-44031596-A-G c.-17-8091A>G - IntronicSNV - 1/13 4
17-44032470-C-G c.-17-7217C>G - IntronicSNV - 1/13 3
17-44032470-C-T c.-17-7217C>T - IntronicSNV - 1/13 3
17-44032768-T-C c.-17-6919T>C - IntronicSNV - 1/13 6
17-44032879-A-G c.-17-6808A>G - IntronicSNV - 1/13 3
17-44032915-T-C c.-17-6772T>C - IntronicSNV - 1/13 7
17-44033132-C-T c.-17-6555C>T - IntronicSNV - 1/13 1
17-44033169-T-C c.-17-6518T>C - IntronicSNV - 1/13 3
17-44033394-G-C c.-17-6293G>C - IntronicSNV - 1/13 1
17-44033401-C-T c.-17-6286C>T - IntronicSNV - 1/13 1
17-44033802-T-C c.-17-5885T>C - IntronicSNV - 1/13 5
17-44033802-T-G c.-17-5885T>G - IntronicSNV - 1/13 5
17-44034859-A-G c.-17-4828A>G - IntronicSNV - 1/13 1
17-44035367-A-G c.-17-4320A>G - IntronicSNV - 1/13 3
17-44035516-G-A c.-17-4171G>A - IntronicSNV - 1/13 1
17-44035706-A-G c.-17-3981A>G - IntronicSNV - 1/13 5
17-44036787-T-C c.-17-2900T>C - IntronicSNV - 1/13 3
17-44037299-G-C c.-17-2388G>C - IntronicSNV - 1/13 4
17-44037491-A-G c.-17-2196A>G - IntronicSNV - 1/13 3
17-44038785-A-G c.-17-902A>G - IntronicSNV - 1/13 6
17-44039008-G-A c.-17-679G>A - IntronicSNV - 1/13 5
17-44039008-G-C c.-17-679G>C - IntronicSNV - 1/13 5
17-44039043-G-A c.-17-644G>A - IntronicSNV - 1/13 2
17-44039365-C-T c.-17-322C>T - IntronicSNV - 1/13 1
17-44039410-A-G c.-17-277A>G - IntronicSNV - 1/13 1
17-44039516-G-T c.-17-171G>T - IntronicSNV - 1/13 6
17-44039658-G-A c.-17-29G>A - IntronicSNV - 1/13 1
17-44039691-A-G c.-13A>G - 5-UTRSNV 2/14 - 23
17-44039708-GCTG-G c.5_7del p.Ala2del InFrameDeletion 2/14 - 1
17-44039709-T-A c.6T>A p.Ala2Ala Synonymous 2/14 - 3
17-44039709-T-C c.6T>C p.Ala2Ala Synonymous 2/14 - 3
17-44039709-T-G c.6T>G p.Ala2Ala Synonymous 2/14 - 3
17-44039712-G-A c.9G>A p.Glu3Glu Synonymous 2/14 - 3
17-44039715-C-A c.12C>A p.Pro4Pro Synonymous 2/14 - 1
17-44039715-C-G c.12C>G p.Pro4Pro Synonymous 2/14 - 1
17-44039715-C-T c.12C>T p.Pro4Pro Synonymous 2/14 - 1
17-44039716-C-T c.13C>T p.Arg5Cys Missense 2/14 - 2
17-44039717-G-A c.14G>A p.Arg5His Missense 2/14 - 8
17-44039717-G-T c.14G>T p.Arg5Leu Missense 2/14 - 8
17-44039718-C-T c.15C>T p.Arg5Arg Synonymous 2/14 - 1
17-44039719-C-A c.16C>A p.Gln6Lys Missense 2/14 - 1
17-44039719-C-T c.16C>T p.Gln6* Nonsense 2/14 - 1
17-44039725-T-C c.22T>C p.Phe8Leu Missense 2/14 - 1
17-44039727-C-T c.24C>T p.Phe8Phe Synonymous 2/14 - 1
17-44039731-G-A c.28G>A p.Val10Met Missense 2/14 - 1
17-44039731-GT-AA c.28_29delinsAA p.Val10Lys Missense 2/14 - 1
17-44039731-GT-AC c.28_29inv p.Val10Thr Missense 2/14 - 1
17-44039732-T-C c.29T>C p.Val10Ala Missense 2/14 - 2
17-44039734-AT-GC c.31_32delinsGC p.Met11Ala Missense 2/14 - 3
17-44039735-T-A c.32T>A p.Met11Lys Missense 2/14 - 1
17-44039735-T-C c.32T>C p.Met11Thr Missense 2/14 - 1
17-44039735-TG-GC c.32_33delinsGC p.Met11Ser Missense 2/14 - 1
17-44039737-G-C c.34G>C p.Glu12Gln Missense 2/14 - 1
17-44039738-A-C c.35A>C p.Glu12Ala Missense 2/14 - 1
17-44039740-G-A c.37G>A p.Asp13Asn Missense 2/14 - 2
17-44039740-GA-TG c.37_38delinsTG p.Asp13Cys Missense 2/14 - 2
17-44039740-GA-TT c.37_38delinsTT p.Asp13Phe Missense 2/14 - 1
17-44039740-G-C c.37G>C p.Asp13His Missense 2/14 - 1
17-44039740-G-T c.37G>T p.Asp13Tyr Missense 2/14 - 2
17-44039741-A-C c.38A>C p.Asp13Ala Missense 2/14 - 2
17-44039741-A-G c.38A>G p.Asp13Gly Missense 2/14 - 2
17-44039743-CA-GC c.40_41delinsGC p.His14Ala Missense 2/14 - 2
17-44039743-CA-TT c.40_41delinsTT p.His14Phe Missense 2/14 - 1
17-44039745-C-T c.42C>T p.His14His Synonymous 2/14 - 1
17-44039746-G-A c.43G>A p.Ala15Thr Missense 2/14 - 1
17-44039746-GC-CT c.43_44delinsCT p.Ala15Leu Missense 2/14 - 1
17-44039746-GC-TG c.43_44delinsTG p.Ala15Cys Missense 2/14 - 2
17-44039746-GC-TT c.43_44delinsTT p.Ala15Phe Missense 2/14 - 2
17-44039747-C-G c.44C>G p.Ala15Gly Missense 2/14 - 1
17-44039748-T-A c.45T>A p.Ala15Ala Synonymous 2/14 - 3
17-44039748-T-C c.45T>C p.Ala15Ala Synonymous 2/14 - 3
17-44039748-T-G c.45T>G p.Ala15Ala Synonymous 2/14 - 3
17-44039749-G-A c.46G>A p.Gly16Arg Missense 2/14 - 1
17-44039749-G-C c.46G>C p.Gly16Arg Missense 2/14 - 1
17-44039750-G-A c.47G>A p.Gly16Glu Missense 2/14 - 1
17-44039752-AC-GA c.49_50delinsGA p.Thr17Glu Missense 2/14 - 1
17-44039752-A-G c.49A>G p.Thr17Ala Missense 2/14 - 2
17-44039753-CG-AC c.50_51delinsAC p.Thr17Asn Missense 2/14 - 3
17-44039753-C-T c.50C>T p.Thr17Met Missense 2/14 - 4
17-44039755-TA-CG c.52_53delinsCG p.Tyr18Arg Missense 2/14 - 1
17-44039755-TAC-GAG c.52_54delinsGAG p.Tyr18Glu Missense 2/14 - 6
17-44039755-TA-GC c.52_53delinsGC p.Tyr18Ala Missense 2/14 - 3
17-44039756-A-T c.53A>T p.Tyr18Phe Missense 2/14 - 14
17-44039757-C-T c.54C>T p.Tyr18Tyr Synonymous 2/14 - 2
17-44039759-G-C c.56G>C p.Gly19Ala Missense 2/14 - 1
17-44039760-G-C c.57G>C p.Gly19Gly Synonymous 2/14 - 1
17-44039760-G-T c.57G>T p.Gly19Gly Synonymous 2/14 - 1
17-44039761-TT-CC c.58_59delinsCC p.Leu20Pro Missense 2/14 - 5
17-44039761-TT-GC c.58_59delinsGC p.Leu20Ala Missense 2/14 - 2
17-44039764-G-A c.61G>A p.Gly21Arg Missense 2/14 - 1
17-44039767-G-A c.64G>A p.Asp22Asn Missense 2/14 - 2
17-44039768-A-C c.65A>C p.Asp22Ala Missense 2/14 - 1
17-44039770-AG-GC c.67_68delinsGC p.Arg23Ala Missense 2/14 - 1
17-44039770-A-C c.67A>C p.Arg23Arg Synonymous 2/14 - 1
17-44039772-G-A c.69G>A p.Arg23Arg Synonymous 2/14 - 1
17-44039773-AA-GC c.70_71delinsGC p.Lys24Ala Missense 2/14 - 2
17-44039773-A-C c.70A>C p.Lys24Gln Missense 2/14 - 1
17-44039774-A-G c.71A>G p.Lys24Arg Missense 2/14 - 4
17-44039776-GAT-ATG c.73_75delinsATG p.Asp25Met Missense 2/14 - 1
17-44039782-GGG-TGT c.79_81delinsTGT p.Gly27Cys Missense 2/14 - 1
17-44039785-G-A c.82G>A p.Gly28Ser Missense 2/14 - 1
17-44039785-G-C c.82G>C p.Gly28Arg Missense 2/14 - 1
17-44039785-GG-AA c.82_83delinsAA p.Gly28Asn Missense 2/14 - 1
17-44039785-GG-AT c.82_83delinsAT p.Gly28Ile Missense 2/14 - 1
17-44039785-GG-CC c.82_83inv p.Gly28Pro Missense 2/14 - 1
17-44039785-GG-CT c.82_83delinsCT p.Gly28Leu Missense 2/14 - 1
17-44039785-GG-TA c.82_83delinsTA p.Gly28Tyr Missense 2/14 - 1
17-44039786-G-C c.83G>C p.Gly28Ala Missense 2/14 - 1
17-44039788-TA-CG c.85_86delinsCG p.Tyr29Arg Missense 2/14 - 1
17-44039788-TAC-GAG c.85_87delinsGAG p.Tyr29Glu Missense 2/14 - 1
17-44039788-TA-GC c.85_86delinsGC p.Tyr29Ala Missense 2/14 - 1
17-44039789-A-T c.86A>T p.Tyr29Phe Missense 2/14 - 5
17-44039791-A-G c.88A>G p.Thr30Ala Missense 2/14 - 1
17-44039792-C-T c.89C>T p.Thr30Ile Missense 2/14 - 1
17-44039798-A-C c.95A>C p.His32Pro Missense 2/14 - 1
17-44039798-A-G c.95A>G p.His32Arg Missense 2/14 - 1
17-44039798-A-T c.95A>T p.His32Leu Missense 2/14 - 1
17-44039803-G-A c.100G>A p.Asp34Asn Missense 2/14 - 1
17-44039803-G-C c.100G>C p.Asp34His Missense 2/14 - 1
17-44039804-A-C c.101A>C p.Asp34Ala Missense 2/14 - 1
17-44039805-C-T c.102C>T p.Asp34Asp Synonymous 2/14 - 1
17-44039812-G-C c.109G>C p.Gly37Arg Missense 2/14 - 39
17-44039812-GG-CT c.109_110delinsCT p.Gly37Leu Missense 2/14 - 3
17-44039812-GG-TT c.109_110delinsTT p.Gly37Phe Missense 2/14 - 2
17-44039812-G-T c.109G>T p.Gly37Cys Missense 2/14 - 1
17-44039813-G-A c.110G>A p.Gly37Asp Missense 2/14 - 4
17-44039813-G-C c.110G>C p.Gly37Ala Missense 2/14 - 2
17-44039819-C-T c.116C>T p.Thr39Met Missense 2/14 - 1
17-44039820-G-A c.117G>A p.Thr39Thr Synonymous 2/14 - 3
17-44039820-G-C c.117G>C p.Thr39Thr Synonymous 2/14 - 1
17-44039820-G-T c.117G>T p.Thr39Thr Synonymous 2/14 - 1
17-44039823-C-A c.120C>A p.Asp40Glu Missense 2/14 - 1
17-44039823-C-G c.120C>G p.Asp40Glu Missense 2/14 - 1
17-44039824-G-A c.121G>A p.Ala41Thr Missense 2/14 - 1
17-44039824-G-C c.121G>C p.Ala41Pro Missense 2/14 - 1
17-44039824-GC-AA c.121_122delinsAA p.Ala41Asn Missense 2/14 - 1
17-44039824-GC-CG c.121_122delinsCG p.Ala41Arg Missense 2/14 - 1
17-44039824-GCT-CAA c.121_123delinsCAA p.Ala41Gln Missense 2/14 - 1
17-44039824-GC-TG c.121_122delinsTG p.Ala41Cys Missense 2/14 - 3
17-44039824-G-T c.121G>T p.Ala41Ser Missense 2/14 - 1
17-44039825-C-G c.122C>G p.Ala41Gly Missense 2/14 - 1
17-44039825-C-T c.122C>T p.Ala41Val Missense 2/14 - 1
17-44039826-T-A c.123T>A p.Ala41Ala Synonymous 2/14 - 1
17-44039826-T-C c.123T>C p.Ala41Ala Synonymous 2/14 - 1
17-44039826-T-G c.123T>G p.Ala41Ala Synonymous 2/14 - 1
17-44039830-CT-GC c.127_128delinsGC p.Leu43Ala Missense 2/14 - 3
17-44039833-AA-GC c.130_131delinsGC p.Lys44Ala Missense 2/14 - 8
17-44039833-AA-GT c.130_131delinsGT p.Lys44Val Missense 2/14 - 2
17-44039833-A-G c.130A>G p.Lys44Glu Missense 2/14 - 1
17-44039855-A-G c.133+19A>G - IntronicSNV - 2/13 1
17-44040626-C-T c.133+790C>T - IntronicSNV - 2/13 9
17-44041107-G-A c.133+1271G>A - IntronicSNV - 2/13 1
17-44041771-C-G c.133+1935C>G - IntronicSNV - 2/13 1
17-44041771-C-T c.133+1935C>T - IntronicSNV - 2/13 1
17-44042221-A-G c.133+2385A>G - IntronicSNV - 2/13 1
17-44042782-T-A c.133+2946T>A - IntronicSNV - 2/13 1
17-44042782-T-C c.133+2946T>C - IntronicSNV - 2/13 1
17-44043378-T-C c.133+3542T>C - IntronicSNV - 2/13 1
17-44043636-C-T c.133+3800C>T - IntronicSNV - 2/13 2
17-44043819-G-A c.133+3983G>A - IntronicSNV - 2/13 2
17-44044157-G-A c.133+4321G>A - IntronicSNV - 2/13 2
17-44044220-A-T c.133+4384A>T - IntronicSNV - 2/13 1
17-44044431-C-T c.133+4595C>T - IntronicSNV - 2/13 2
17-44044508-A-C c.133+4672A>C - IntronicSNV - 2/13 2
17-44044508-A-G c.133+4672A>G - IntronicSNV - 2/13 2
17-44044940-T-C c.134-4285T>C - IntronicSNV - 2/13 4
17-44044985-A-G c.134-4240A>G - IntronicSNV - 2/13 3
17-44045474-A-G c.134-3751A>G - IntronicSNV - 2/13 2
17-44045974-C-T c.134-3251C>T - IntronicSNV - 2/13 8
17-44046202-C-T c.134-3023C>T - IntronicSNV - 2/13 3
17-44047802-A-T c.134-1423A>T - IntronicSNV - 2/13 3
17-44048026-G-A c.134-1199G>A - IntronicSNV - 2/13 1
17-44048026-G-C c.134-1199G>C - IntronicSNV - 2/13 1
17-44048323-G-T c.134-902G>T - IntronicSNV - 2/13 2
17-44048350-T-C c.134-875T>C - IntronicSNV - 2/13 2
17-44049133-T-C c.134-92T>C - IntronicSNV - 2/13 2
17-44049227-TCT-GAG c.136_138delinsGAG p.Ser46Glu Missense 3/14 - 1
17-44049227-T-G c.136T>G p.Ser46Ala Missense 3/14 - 2
17-44049230-C-T c.139C>T p.Pro47Ser Missense 3/14 - 4
17-44049231-C-A c.140C>A p.Pro47His Missense 3/14 - 1
17-44049232-C-A c.141C>A p.Pro47Pro Synonymous 3/14 - 1
17-44049233-C-G c.142C>G p.Leu48Val Missense 3/14 - 2
17-44049239-ACC-GAG c.148_150delinsGAG p.Thr50Glu Missense 3/14 - 1
17-44049239-A-G c.148A>G p.Thr50Ala Missense 3/14 - 1
17-44049245-A-G c.154A>G p.Thr52Ala Missense 3/14 - 1
17-44049246-C-CG c.155_156insG p.Glu53* Nonsense 3/14 - 1
17-44049248-GA-AC c.157_158delinsAC p.Glu53Thr Missense 3/14 - 1
17-44049248-GA-AG c.157_158delinsAG p.Glu53Arg Missense 3/14 - 1
17-44049251-G-T c.160G>T p.Asp54Tyr Missense 3/14 - 1
17-44049253-C-A c.162C>A p.Asp54Glu Missense 3/14 - 1
17-44049253-C-G c.162C>G p.Asp54Glu Missense 3/14 - 1
17-44049254-G-A c.163G>A p.Gly55Arg Missense 3/14 - 7
17-44049260-G-A c.169G>A p.Glu57Lys Missense 3/14 - 7
17-44049260-GA-AC c.169_170delinsAC p.Glu57Thr Missense 3/14 - 1
17-44049262-AGGAAC-A c.171_175del p.Glu57Aspfs*4 Frameshift 3/14 - 1
17-44049263-G-A c.172G>A p.Glu58Lys Missense 3/14 - 1
17-44049265-A-C c.174A>C p.Glu58Asp Missense 3/14 - 1
17-44049265-A-T c.174A>T p.Glu58Asp Missense 3/14 - 1
17-44049266-C-G c.175C>G p.Pro59Ala Missense 3/14 - 1
17-44049267-C-T c.176C>T p.Pro59Leu Missense 3/14 - 1
17-44049270-G-C c.179G>C p.Gly60Ala Missense 3/14 - 1
17-44049271-C-G c.180C>G p.Gly60Gly Synonymous 3/14 - 1
17-44049273-C-T c.182C>T p.Ser61Phe Missense 3/14 - 1
17-44049285-A-G c.194A>G p.Asp65Gly Missense 3/14 - 1
17-44049287-GC-CG c.196_197delinsCG p.Ala66Arg Missense 3/14 - 1
17-44049288-C-G c.197C>G p.Ala66Gly Missense 3/14 - 5
17-44049288-CT-AG c.197_198inv p.Ala66Glu Missense 3/14 - 2
17-44049290-AA-GC c.199_200delinsGC p.Lys67Ala Missense 3/14 - 1
17-44049296-AC-GA c.205_206delinsGA p.Thr69Asp Missense 3/14 - 2
17-44049296-CACTCCAACAGC-C c.205_215del p.Thr69Glyfs*10 Frameshift 3/14 - 1
17-44049297-C-T c.206C>T p.Thr69Ile Missense 3/14 - 1
17-44049299-C-T c.208C>T p.Pro70Ser Missense 3/14 - 1
17-44049301-A-C c.210A>C p.Pro70Pro Synonymous 3/14 - 1
17-44049301-A-G c.210A>G p.Pro70Pro Synonymous 3/14 - 1
17-44049301-A-T c.210A>T p.Pro70Pro Synonymous 3/14 - 1
17-44049302-AC-GA c.211_212delinsGA p.Thr71Glu Missense 3/14 - 1
17-44049303-C-T c.212C>T p.Thr71Ile Missense 3/14 - 1
17-44049305-GC-AG c.214_215delinsAG p.Ala72Arg Missense 3/14 - 1
17-44049305-GCG-TGT c.214_216delinsTGT p.Ala72Cys Missense 3/14 - 1
17-44049306-C-A c.215C>A p.Ala72Glu Missense 3/14 - 4
17-44049306-C-G c.215C>G p.Ala72Gly Missense 3/14 - 2
17-44049306-CG-AC c.215_216delinsAC p.Ala72Asp Missense 3/14 - 2
17-44049550-G-A c.220+239G>A - IntronicSNV - 3/13 1
17-44049867-A-G c.220+556A>G - IntronicSNV - 3/13 5
17-44049900-A-G c.220+589A>G - IntronicSNV - 3/13 2
17-44050282-G-A c.220+971G>A - IntronicSNV - 3/13 2
17-44050340-G-A c.220+1029G>A - IntronicSNV - 3/13 4
17-44050395-C-A c.220+1084C>A - IntronicSNV - 3/13 1
17-44050828-G-C c.221-923G>C - IntronicSNV - 3/13 1
17-44051588-C-G c.221-163C>G - IntronicSNV - 3/13 1
17-44051752-T-C c.222T>C p.Asp74Asp Synonymous 4/14 - 1
17-44051753-GT-TC c.223_224delinsTC p.Val75Ser Missense 4/14 - 1
17-44051754-T-C c.224T>C p.Val75Ala Missense 4/14 - 4
17-44051760-C-A c.230C>A p.Ala77Glu Missense 4/14 - 2
17-44051772-A-C c.242A>C p.Asp81Ala Missense 4/14 - 1
17-44051774-GAG-TGT c.244_246delinsTGT p.Glu82Cys Missense 4/14 - 1
17-44051774-GAG-TTT c.244_246delinsTTT p.Glu82Phe Missense 4/14 - 1
17-44051776-G-A c.246G>A p.Glu82Glu Synonymous 4/14 - 2
17-44051777-G-A c.247G>A p.Gly83Arg Missense 4/14 - 1
17-44051779-A-G c.249A>G p.Gly83Gly Synonymous 4/14 - 1
17-44051780-GC-TG c.250_251delinsTG p.Ala84Cys Missense 4/14 - 1
17-44051781-C-A c.251C>A p.Ala84Asp Missense 4/14 - 1
17-44051783-C-G c.253C>G p.Pro85Ala Missense 4/14 - 3
17-44051784-C-T c.254C>T p.Pro85Leu Missense 4/14 - 1
17-44051786-G-A c.256G>A p.Gly86Ser Missense 4/14 - 1
17-44051788-C-A c.258C>A p.Gly86Gly Synonymous 4/14 - 1
17-44051788-C-G c.258C>G p.Gly86Gly Synonymous 4/14 - 1
17-44051788-C-T c.258C>T p.Gly86Gly Synonymous 4/14 - 1
17-44051789-AA-GC c.259_260delinsGC p.Lys87Ala Missense 4/14 - 1
17-44051789-A-G c.259A>G p.Lys87Glu Missense 4/14 - 1
17-44051792-C-T c.262C>T p.Gln88* Nonsense 4/14 - 1
17-44051795-GC-CA c.265_266delinsCA p.Ala89His Missense 4/14 - 1
17-44051795-GC-TT c.265_266delinsTT p.Ala89Phe Missense 4/14 - 2
17-44051796-C-T c.266C>T p.Ala89Val Missense 4/14 - 3
17-44051798-GC-TG c.268_269delinsTG p.Ala90Cys Missense 4/14 - 5
17-44051799-C-A c.269C>A p.Ala90Asp Missense 4/14 - 1
17-44051800-C-A c.270C>A p.Ala90Ala Synonymous 4/14 - 1
17-44051800-C-G c.270C>G p.Ala90Ala Synonymous 4/14 - 1
17-44051800-C-T c.270C>T p.Ala90Ala Synonymous 4/14 - 1
17-44051801-GCG-TTT c.271_273delinsTTT p.Ala91Phe Missense 4/14 - 4
17-44051802-C-T c.272C>T p.Ala91Val Missense 4/14 - 2
17-44051803-G-A c.273G>A p.Ala91Ala Synonymous 4/14 - 2
17-44051803-G-C c.273G>C p.Ala91Ala Synonymous 4/14 - 2
17-44051803-G-T c.273G>T p.Ala91Ala Synonymous 4/14 - 2
17-44051806-G-A c.276G>A p.Gln92Gln Synonymous 4/14 - 1
17-44051807-CC-GG c.277_278inv p.Pro93Gly Missense 4/14 - 1
17-44051810-C-A c.280C>A p.His94Asn Missense 4/14 - 1
17-44051814-C-T c.284C>T p.Thr95Met Missense 4/14 - 2
17-44051816-GAG-TTT c.286_288delinsTTT p.Glu96Phe Missense 4/14 - 2
17-44051816-G-C c.286G>C p.Glu96Gln Missense 4/14 - 1
17-44051818-G-C c.288G>C p.Glu96Asp Missense 4/14 - 1
17-44051818-G-T c.288G>T p.Glu96Asp Missense 4/14 - 1
17-44051822-C-T c.292C>T p.Pro98Ser Missense 4/14 - 1
17-44051826-A-C c.296A>C p.Glu99Ala Missense 4/14 - 1
17-44051830-A-C c.300A>C p.Gly100Gly Synonymous 4/14 - 1
17-44051830-A-G c.300A>G p.Gly100Gly Synonymous 4/14 - 1
17-44051830-A-T c.300A>T p.Gly100Gly Synonymous 4/14 - 1
17-44051831-AC-TG c.301_302delinsTG p.Thr101Cys Missense 4/14 - 1
17-44051834-ACA-TGT c.304_306inv p.Thr102Cys Missense 4/14 - 4
17-44051834-ACA-TTT c.304_306delinsTTT p.Thr102Phe Missense 4/14 - 1
17-44051834-A-T c.304A>T p.Thr102Ser Missense 4/14 - 1
17-44051846-A-G c.307+9A>G - IntronicSNV - 4/13 55
17-44051924-G-A c.307+87G>A - IntronicSNV - 4/13 9
17-44052009-T-C c.307+172T>C - IntronicSNV - 4/13 8
17-44052284-G-A c.307+447G>A - IntronicSNV - 4/13 5
17-44052733-A-G c.307+896A>G - IntronicSNV - 4/13 3
17-44053448-A-G c.307+1611A>G - IntronicSNV - 4/13 3
17-44054237-G-A c.308-1504G>A - IntronicSNV - 4/13 5
17-44054388-T-C c.308-1353T>C - IntronicSNV - 4/13 1
17-44054433-A-G c.308-1308A>G - IntronicSNV - 4/13 42
17-44054596-T-G c.308-1145T>G - IntronicSNV - 4/13 5
17-44054671-C-T c.308-1070C>T - IntronicSNV - 4/13 1
17-44054696-G-A c.308-1045G>A - IntronicSNV - 4/13 12
17-44055638-T-A c.308-103T>A - IntronicSNV - 4/13 3
17-44055647-A-T c.308-94A>T - IntronicSNV - 4/13 10
17-44055743-G-C c.310G>C p.Glu104Gln Missense 5/14 - 1
17-44055745-A-C c.312A>C p.Glu104Asp Missense 5/14 - 1
17-44055745-A-T c.312A>T p.Glu104Asp Missense 5/14 - 1
17-44055746-G-C c.313G>C p.Glu105Gln Missense 5/14 - 1
17-44055749-G-A c.316G>A p.Ala106Thr Missense 5/14 - 1
17-44055752-G-A c.319G>A p.Gly107Ser Missense 5/14 - 3
17-44055753-G-A c.320G>A p.Gly107Asp Missense 5/14 - 1
17-44055753-G-T c.320G>T p.Gly107Val Missense 5/14 - 2
17-44055754-C-T c.321C>T p.Gly107Gly Synonymous 5/14 - 1
17-44055764-AC-TG c.331_332delinsTG p.Thr111Cys Missense 5/14 - 1
17-44055768-C-T c.335C>T p.Pro112Leu Missense 5/14 - 1
17-44055770-AGC-GAG c.337_339delinsGAG p.Ser113Glu Missense 5/14 - 1
17-44055770-CAGCCTGGAAGACGAAGCTGCTGGTCACGTGACCCAAGGTCAGTGAACTGGAATTGCCTG-C c.337_373+22del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 5/14 5/13 1
17-44055770-A-C c.337A>C p.Ser113Arg Missense 5/14 - 1
17-44055772-C-A c.339C>A p.Ser113Arg Missense 5/14 - 1
17-44055772-C-G c.339C>G p.Ser113Arg Missense 5/14 - 1
17-44055773-CTG-TTT c.340_342delinsTTT p.Leu114Phe Missense 5/14 - 1
17-44055773-C-T c.340C>T p.Leu114Leu Synonymous 5/14 - 1
17-44055775-G-A c.342G>A p.Leu114Leu Synonymous 5/14 - 1
17-44055775-G-C c.342G>C p.Leu114Leu Synonymous 5/14 - 1
17-44055775-G-T c.342G>T p.Leu114Leu Synonymous 5/14 - 1
17-44055782-G-A c.349G>A p.Glu117Lys Missense 5/14 - 1
17-44055783-A-C c.350A>C p.Glu117Ala Missense 5/14 - 1
17-44055785-G-A c.352G>A p.Ala118Thr Missense 5/14 - 1
17-44055786-C-T c.353C>T p.Ala118Val Missense 5/14 - 1
17-44055792-G-T c.359G>T p.Gly120Val Missense 5/14 - 1
17-44055793-T-A c.360T>A p.Gly120Gly Synonymous 5/14 - 1
17-44055793-T-C c.360T>C p.Gly120Gly Synonymous 5/14 - 1
17-44055793-T-G c.360T>G p.Gly120Gly Synonymous 5/14 - 1
17-44055796-C-A c.363C>A p.His121Gln Missense 5/14 - 1
17-44055797-GT-AC c.364_365inv p.Val122Thr Missense 5/14 - 1
17-44055797-GTG-ATC c.364_366delinsATC p.Val122Ile Missense 5/14 - 10
17-44055801-CC-AG c.368_369delinsAG p.Thr123Lys Missense 5/14 - 1
17-44055803-C-G c.370C>G p.Gln124Glu Missense 5/14 - 3
17-44056434-G-A c.373+628G>A - IntronicSNV - 5/13 1
17-44056767-G-A c.373+961G>A - IntronicSNV - 5/13 47
17-44056833-G-A c.373+1027G>A - IntronicSNV - 5/13 4
17-44056833-G-T c.373+1027G>T - IntronicSNV - 5/13 4
17-44057595-G-A c.373+1789G>A - IntronicSNV - 5/13 1
17-44057886-A-AC c.373+2080_373+2081insC - IntronicInsertion - 5/13 2
17-44058004-A-G c.373+2198A>G - IntronicSNV - 5/13 4
17-44058111-C-T c.373+2305C>T - IntronicSNV - 5/13 3
17-44058629-T-A c.374-1915T>A - IntronicSNV - 5/13 3
17-44058640-A-G c.374-1904A>G - IntronicSNV - 5/13 2
17-44058861-C-A c.374-1683C>A - IntronicSNV - 5/13 3
17-44058861-C-T c.374-1683C>T - IntronicSNV - 5/13 3
17-44058928-G-A c.374-1616G>A - IntronicSNV - 5/13 14
17-44059010-A-T c.374-1534A>T - IntronicSNV - 5/13 4
17-44059666-C-T c.374-878C>T - IntronicSNV - 5/13 1
17-44060248-G-A c.374-296G>A - IntronicSNV - 5/13 1
17-44060544-A-G c.374A>G p.Glu125Gly Missense 6/14 - 1
17-44060562-T-C c.392T>C p.Val131Ala Missense 6/14 - 1
17-44060566-C-T c.396C>T p.Val132Val Synonymous 6/14 - 1
17-44060567-C-A c.397C>A p.Gln133Lys Missense 6/14 - 1
17-44060574-G-T c.404G>T p.Gly135Val Missense 6/14 - 1
17-44060580-T-A c.410T>A p.Leu137His Missense 6/14 - 1
17-44060582-C-T c.412C>T p.Arg138* Nonsense 6/14 - 1
17-44060584-A-G c.414A>G p.Arg138Arg Synonymous 6/14 - 1
17-44060585-GA-AT c.415_416delinsAT p.Glu139Met Missense 6/14 - 1
17-44060588-CC-AT c.418_419delinsAT p.Pro140Ile Missense 6/14 - 1
17-44060588-C-T c.418C>T p.Pro140Ser Missense 6/14 - 1
17-44060589-C-T c.419C>T p.Pro140Leu Missense 6/14 - 2
17-44060591-GGC-TGA c.421_423delinsTGA p.Gly141* Nonsense 6/14 - 2
17-44060594-C-T c.424C>T p.Pro142Ser Missense 6/14 - 1
17-44060603-C-T c.433C>T p.Leu145Leu Synonymous 6/14 - 1
17-44060606-AG-CC c.436_437delinsCC p.Ser146Pro Missense 6/14 - 1
17-44060609-C-T c.439C>T p.His147Tyr Missense 6/14 - 1
17-44060613-A-G c.443A>G p.Gln148Arg Missense 6/14 - 1
17-44060614-G-C c.444G>C p.Gln148His Missense 6/14 - 1
17-44060614-G-T c.444G>T p.Gln148His Missense 6/14 - 1
17-44060621-TCC-AAG c.451_453delinsAAG p.Ser151Lys Missense 6/14 - 1
17-44060624-G-A c.454G>A p.Gly152Ser Missense 6/14 - 7
17-44060625-G-A c.455G>A p.Gly152Asp Missense 6/14 - 1
17-44060625-G-C c.455G>C p.Gly152Ala Missense 6/14 - 1
17-44060628-T-C c.458T>C p.Met153Thr Missense 6/14 - 4
17-44060642-CT-TA c.472_473delinsTA p.Leu158Tyr Missense 6/14 - 1
17-44060647-G-A c.477G>A p.Leu159Leu Synonymous 6/14 - 1
17-44060651-GA-AG c.481_482delinsAG p.Glu161Arg Missense 6/14 - 1
17-44060659-C-T c.489C>T p.Pro163Pro Synonymous 6/14 - 1
17-44060663-GA-TC c.493_494inv p.Glu165Ser Missense 6/14 - 1
17-44060669-A-G c.499A>G p.Thr167Ala Missense 6/14 - 1
17-44060672-CGC-TGG c.502_504delinsTGG p.Arg168Trp Missense 6/14 - 1
17-44060672-CG-GC c.502_503delinsGC p.Arg168Ala Missense 6/14 - 1
17-44060672-C-T c.502C>T p.Arg168Cys Missense 6/14 - 1
17-44060673-G-A c.503G>A p.Arg168His Missense 6/14 - 2
17-44060677-A-G c.507A>G p.Gln169Gln Synonymous 6/14 - 1
17-44060678-C-T c.508C>T p.Pro170Ser Missense 6/14 - 1
17-44060687-AC-GG c.517_518delinsGG p.Thr173Gly Missense 6/14 - 1
17-44060698-G-A c.528G>A p.Glu176Glu Synonymous 6/14 - 1
17-44060700-A-T c.530A>T p.Asp177Val Missense 6/14 - 3
17-44060701-C-T c.531C>T p.Asp177Asp Synonymous 6/14 - 2
17-44060702-ACA-TGT c.532_534inv p.Thr178Cys Missense 6/14 - 1
17-44060706-A-G c.536A>G p.Glu179Gly Missense 6/14 - 1
17-44060711-G-A c.541G>A p.Gly181Ser Missense 6/14 - 1
17-44060714-C-T c.544C>T p.Arg182Cys Missense 6/14 - 1
17-44060715-G-A c.545G>A p.Arg182His Missense 6/14 - 1
17-44060721-C-T c.551C>T p.Ala184Val Missense 6/14 - 1
17-44060728-G-A c.558G>A p.Glu186Glu Synonymous 6/14 - 1
17-44060733-TC-AA c.563_564delinsAA p.Leu188Gln Missense 6/14 - 1
17-44060743-G-A c.573G>A p.Gln191Gln Synonymous 6/14 - 1
17-44060750-G-A c.580G>A p.Gly194Arg Missense 6/14 - 1
17-44060751-GA-AC c.581_582delinsAC p.Gly194Asp Missense 6/14 - 1
17-44060756-C-T c.586C>T p.Leu196Leu Synonymous 6/14 - 1
17-44060759-CA-GC c.589_590delinsGC p.His197Ala Missense 6/14 - 1
17-44060762-C-A c.592C>A p.Gln198Lys Missense 6/14 - 1
17-44060765-G-A c.595G>A p.Glu199Lys Missense 6/14 - 1
17-44060765-G-T c.595G>T p.Glu199* Nonsense 6/14 - 1
17-44060768-GG-AA c.598_599delinsAA p.Gly200Lys Missense 6/14 - 1
17-44060769-G-A c.599G>A p.Gly200Glu Missense 6/14 - 1
17-44060769-G-C c.599G>C p.Gly200Ala Missense 6/14 - 1
17-44060771-C-T c.601C>T p.Pro201Ser Missense 6/14 - 3
17-44060772-CG-AT c.602_603delinsAT p.Pro201His Missense 6/14 - 1
17-44060775-C-A c.605C>A p.Pro202Gln Missense 6/14 - 9
17-44060775-C-T c.605C>T p.Pro202Leu Missense 6/14 - 14
17-44060784-G-A c.614G>A p.Gly205Glu Missense 6/14 - 2
17-44060786-G-A c.616G>A p.Ala206Thr Missense 6/14 - 1
17-44060786-GC-AA c.616_617delinsAA p.Ala206Lys Missense 6/14 - 6
17-44060790-G-C c.620G>C p.Gly207Ala Missense 6/14 - 1
17-44060790-G-T c.620G>T p.Gly207Val Missense 6/14 - 1
17-44060798-G-A c.628G>A p.Glu210Lys Missense 6/14 - 1
17-44060801-A-C c.631A>C p.Arg211Arg Synonymous 6/14 - 1
17-44060803-G-A c.633G>A p.Arg211Arg Synonymous 6/14 - 1
17-44060806-G-A c.636G>A p.Pro212Pro Synonymous 6/14 - 1
17-44060807-G-A c.637G>A p.Gly213Arg Missense 6/14 - 3
17-44060808-G-A c.638G>A p.Gly213Glu Missense 6/14 - 1
17-44060810-AGC-GAG c.640_642delinsGAG p.Ser214Glu Missense 6/14 - 3
17-44060810-AGC-TGA c.640_642delinsTGA p.Ser214* Nonsense 6/14 - 1
17-44060810-AG-GA c.640_641delinsGA p.Ser214Asp Missense 6/14 - 1
17-44060810-AG-GC c.640_641delinsGC p.Ser214Ala Missense 6/14 - 12
17-44060811-G-A c.641G>A p.Ser214Asn Missense 6/14 - 1
17-44060812-C-T c.642C>T p.Ser214Ser Synonymous 6/14 - 1
17-44060818-G-GT c.648_649insT p.Glu217* Nonsense 6/14 - 1
17-44060819-G-A c.649G>A p.Glu217Lys Missense 6/14 - 1
17-44060819-GA-AG c.649_650delinsAG p.Glu217Arg Missense 6/14 - 1
17-44060821-G-A c.651G>A p.Glu217Glu Synonymous 6/14 - 1
17-44060826-A-T c.656A>T p.Asp219Val Missense 6/14 - 1
17-44060829-A-G c.659A>G p.Glu220Gly Missense 6/14 - 1
17-44060831-G-A c.661G>A p.Asp221Asn Missense 6/14 - 1
17-44060834-C-A c.664C>A p.Arg222Ser Missense 6/14 - 1
17-44060834-C-G c.664C>G p.Arg222Gly Missense 6/14 - 1
17-44060834-CG-AA c.664_665delinsAA p.Arg222Asn Missense 6/14 - 1
17-44060835-G-A c.665G>A p.Arg222His Missense 6/14 - 1
17-44060837-G-A c.667G>A p.Asp223Asn Missense 6/14 - 2
17-44060841-T-C c.671T>C p.Val224Ala Missense 6/14 - 1
17-44060841-T-G c.671T>G p.Val224Gly Missense 6/14 - 10
17-44060844-A-G c.674A>G p.Asp225Gly Missense 6/14 - 1
17-44060852-T-C c.682T>C p.Ser228Pro Missense 6/14 - 1
17-44060859-A-G c.689A>G p.Gln230Arg Missense 6/14 - 15
17-44060862-A-C c.692A>C p.Asp231Ala Missense 6/14 - 1
17-44060864-TC-GA c.694_695inv p.Ser232Asp Missense 6/14 - 1
17-44060864-T-G c.694T>G p.Ser232Ala Missense 6/14 - 1
17-44060867-C-G c.697C>G p.Pro233Ala Missense 6/14 - 2
17-44060867-C-T c.697C>T p.Pro233Ser Missense 6/14 - 2
17-44060868-C-T c.698C>T p.Pro233Leu Missense 6/14 - 1
17-44060871-C-T c.701C>T p.Pro234Leu Missense 6/14 - 1
17-44060873-TCC-GAG c.703_705delinsGAG p.Ser235Glu Missense 6/14 - 2
17-44060873-TC-GA c.703_704inv p.Ser235Asp Missense 6/14 - 3
17-44060873-T-G c.703T>G p.Ser235Ala Missense 6/14 - 6
17-44060877-A-G c.707A>G p.Lys236Arg Missense 6/14 - 1
17-44060886-C-T c.716C>T p.Pro239Leu Missense 6/14 - 1
17-44060894-G-A c.724G>A p.Asp242Asn Missense 6/14 - 1
17-44060897-G-A c.727G>A p.Gly243Arg Missense 6/14 - 1
17-44060901-G-A c.731G>A p.Arg244Gln Missense 6/14 - 1
17-44060902-G-GG c.732dup p.Pro245Alafs*106 Frameshift 6/14 - 1
17-44060903-C-T c.733C>T p.Pro245Ser Missense 6/14 - 1
17-44060907-C-T c.737C>T p.Pro246Leu Missense 6/14 - 4
17-44060908-C-T c.738C>T p.Pro246Pro Synonymous 6/14 - 1
17-44060916-C-G c.746C>G p.Ala249Gly Missense 6/14 - 1
17-44060919-C-T c.749C>T p.Ala250Val Missense 6/14 - 1
17-44060928-C-T c.758C>T p.Ala253Val Missense 6/14 - 1
17-44060932-C-T c.762C>T p.Thr254Thr Synonymous 6/14 - 1
17-44060942-G-A c.772G>A p.Gly258Ser Missense 6/14 - 1
17-44060960-G-A c.790G>A p.Ala264Thr Missense 6/14 - 1
17-44060961-CC-AG c.791_792delinsAG p.Ala264Glu Missense 6/14 - 1
17-44060967-C-T c.797C>T p.Pro266Leu Missense 6/14 - 1
17-44060974-T-A c.804T>A p.Pro268Pro Synonymous 6/14 - 1
17-44060976-T-C c.806T>C p.Val269Ala Missense 6/14 - 4
17-44060984-C-A c.814C>A p.Leu272Ile Missense 6/14 - 1
17-44060990-A-C c.820A>C p.Lys274Gln Missense 6/14 - 9
17-44060990-A-G c.820A>G p.Lys274Glu Missense 6/14 - 1
17-44060991-A-G c.821A>G p.Lys274Arg Missense 6/14 - 3
17-44060993-G-A c.823G>A p.Val275Ile Missense 6/14 - 1
17-44060996-T-G c.826T>G p.Ser276Ala Missense 6/14 - 1
17-44060997-C-G c.827C>G p.Ser276Cys Missense 6/14 - 2
17-44061002-G-T c.832G>T p.Glu278* Nonsense 6/14 - 1
17-44061012-C-T c.842C>T p.Ala281Val Missense 6/14 - 1
17-44061018-A-C c.848A>C p.Glu283Ala Missense 6/14 - 1
17-44061021-C-T c.851C>T p.Pro284Leu Missense 6/14 - 1
17-44061023-G-A c.853G>A p.Asp285Asn Missense 6/14 - 12
17-44061024-A-C c.854A>C p.Asp285Ala Missense 6/14 - 1
17-44061025-C-A c.855C>A p.Asp285Glu Missense 6/14 - 2
17-44061025-C-G c.855C>G p.Asp285Glu Missense 6/14 - 2
17-44061025-C-T c.855C>T p.Asp285Asp Synonymous 6/14 - 3
17-44061032-A-T c.862A>T p.Ser288Cys Missense 6/14 - 17
17-44061036-T-C c.866T>C p.Val289Ala Missense 6/14 - 9
17-44061038-G-A c.868G>A p.Gly290Arg Missense 6/14 - 1
17-44061039-G-A c.869G>A p.Gly290Glu Missense 6/14 - 1
17-44061041-CG-AA c.871_872delinsAA p.Arg291Lys Missense 6/14 - 1
17-44061042-G-C c.872G>C p.Arg291Pro Missense 6/14 - 1
17-44061043-G-A c.873G>A p.Arg291Arg Synonymous 6/14 - 1
17-44061050-G-A c.880G>A p.Gly294Arg Missense 6/14 - 1
17-44061060-C-T c.890C>T p.Ala297Val Missense 6/14 - 2
17-44061067-G-A c.897G>A p.Leu299Leu Synonymous 6/14 - 1
17-44061068-G-A c.898G>A p.Glu300Lys Missense 6/14 - 1
17-44061068-G-C c.898G>C p.Glu300Gln Missense 6/14 - 1
17-44061072-T-A c.902T>A p.Phe301Tyr Missense 6/14 - 1
17-44061072-T-C c.902T>C p.Phe301Ser Missense 6/14 - 1
17-44061073-C-G c.903C>G p.Phe301Leu Missense 6/14 - 1
17-44061073-C-T c.903C>T p.Phe301Phe Synonymous 6/14 - 1
17-44061075-C-G c.905C>G p.Thr302Arg Missense 6/14 - 1
17-44061076-G-A c.906G>A p.Thr302Thr Synonymous 6/14 - 1
17-44061080-C-A c.910C>A p.His304Asn Missense 6/14 - 1
17-44061082-C-A c.912C>A p.His304Gln Missense 6/14 - 2
17-44061082-C-G c.912C>G p.His304Gln Missense 6/14 - 2
17-44061082-C-T c.912C>T p.His304His Synonymous 6/14 - 1
17-44061092-A-G c.922A>G p.Thr308Ala Missense 6/14 - 1
17-44061093-CA-TG c.923_924inv p.Thr308Met Missense 6/14 - 1
17-44061095-C-T c.925C>T p.Pro309Ser Missense 6/14 - 1
17-44061117-C-T c.947C>T p.Ala316Val Missense 6/14 - 1
17-44061120-A-T c.950A>T p.His317Leu Missense 6/14 - 2
17-44061121-C-G c.951C>G p.His317Gln Missense 6/14 - 1
17-44061121-C-T c.951C>T p.His317His Synonymous 6/14 - 1
17-44061123-C-T c.953C>T p.Ser318Leu Missense 6/14 - 9
17-44061131-C-T c.961C>T p.His321Tyr Missense 6/14 - 1
17-44061137-GG-AT c.967_968delinsAT p.Gly323Ile Missense 6/14 - 1
17-44061140-AGG-CAT c.970_972delinsCAT p.Arg324His Missense 6/14 - 1
17-44061140-AGG-TGT c.970_972delinsTGT p.Arg324Cys Missense 6/14 - 1
17-44061145-T-C c.975T>C p.Ala325Ala Synonymous 6/14 - 1
17-44061152-C-G c.982C>G p.Pro328Ala Missense 6/14 - 1
17-44061161-C-T c.991C>T p.Pro331Ser Missense 6/14 - 1
17-44061169-G-A c.999G>A p.Glu333Glu Synonymous 6/14 - 1
17-44061173-C-G c.1003C>G p.Pro335Ala Missense 6/14 - 1
17-44061173-C-T c.1003C>T p.Pro335Ser Missense 6/14 - 1
17-44061174-C-CG c.1004_1005insG p.Glu336Argfs*15 Frameshift 6/14 - 1
17-44061176-G-A c.1006G>A p.Glu336Lys Missense 6/14 - 1
17-44061177-A-G c.1007A>G p.Glu336Gly Missense 6/14 - 1
17-44061178-G-C c.1008G>C p.Glu336Asp Missense 6/14 - 1
17-44061182-C-T c.1012C>T p.Arg338Trp Missense 6/14 - 1
17-44061185-G-T c.1015G>T p.Gly339Cys Missense 6/14 - 1
17-44061189-C-T c.1019C>T p.Pro340Leu Missense 6/14 - 1
17-44061198-G-C c.1028G>C p.Gly343Ala Missense 6/14 - 1
17-44061203-GA-TG c.1033_1034delinsTG p.Asp345Cys Missense 6/14 - 1
17-44061209-AAA-TGT c.1039_1041delinsTGT p.Lys347Cys Missense 6/14 - 1
17-44061216-C-T c.1046C>T p.Ala349Val Missense 6/14 - 1
17-44061221-C-T c.1051C>T p.Leu351Phe Missense 6/14 - 1
17-44061222-T-C c.1052T>C p.Leu351Pro Missense 6/14 - 1
17-44061232-C-G c.1062C>G p.Pro354Pro Synonymous 6/14 - 1
17-44061242-C-T c.1072C>T p.Gln358* Nonsense 6/14 - 1
17-44061260-C-T c.1090C>T p.Arg364Trp Missense 6/14 - 1
17-44061273-T-C c.1103T>C p.Val368Ala Missense 6/14 - 1
17-44061278-C-T c.1108C>T p.Arg370Trp Missense 6/14 - 33
17-44061281-GTC-ATG c.1111_1113delinsATG p.Val371Met Missense 6/14 - 1
17-44061285-C-G c.1115C>G p.Pro372Arg Missense 6/14 - 1
17-44061292-C-A c.1122C>A p.Leu374Leu Synonymous 6/14 - 1
17-44061292-C-G c.1122C>G p.Leu374Leu Synonymous 6/14 - 1
17-44061292-C-T c.1122C>T p.Leu374Leu Synonymous 6/14 - 1
17-44061293-AAA-TGT c.1123_1125delinsTGT p.Lys375Cys Missense 6/14 - 1
17-44061696-C-T c.1126+400C>T - IntronicSNV - 6/13 1
17-44061894-C-T c.1126+598C>T - IntronicSNV - 6/13 1
17-44061898-T-C c.1126+602T>C - IntronicSNV - 6/13 1
17-44062603-A-G c.1126+1307A>G - IntronicSNV - 6/13 1
17-44062689-A-C c.1126+1393A>C - IntronicSNV - 6/13 1
17-44062915-G-T c.1127-1491G>T - IntronicSNV - 6/13 2
17-44063140-A-G c.1127-1266A>G - IntronicSNV - 6/13 4
17-44063244-C-G c.1127-1162C>G - IntronicSNV - 6/13 17
17-44063244-C-T c.1127-1162C>T - IntronicSNV - 6/13 17
17-44063393-G-A c.1127-1013G>A - IntronicSNV - 6/13 3
17-44063563-T-C c.1127-843T>C - IntronicSNV - 6/13 2
17-44063766-A-G c.1127-640A>G - IntronicSNV - 6/13 7
17-44063787-A-G c.1127-619A>G - IntronicSNV - 6/13 2
17-44064208-G-A c.1127-198G>A - IntronicSNV - 6/13 6
17-44064334-T-C c.1127-72T>C - IntronicSNV - 6/13 1
17-44064406-C-G c.1127C>G p.Ala376Gly Missense 7/14 - 2
17-44064408-C-T c.1129C>T p.Arg377Cys Missense 7/14 - 1
17-44064409-G-A c.1130G>A p.Arg377His Missense 7/14 - 1
17-44064409-GC-AA c.1130_1131delinsAA p.Arg377Gln Missense 7/14 - 1
17-44064415-T-C c.1136T>C p.Val379Ala Missense 7/14 - 1
17-44064423-AGC-GAG c.1144_1146delinsGAG p.Ser382Glu Missense 7/14 - 1
17-44064438-G-A c.1159G>A p.Gly387Arg Missense 7/14 - 1
17-44064438-G-C c.1159G>C p.Gly387Arg Missense 7/14 - 1
17-44064444-G-A c.1165G>A p.Asp389Asn Missense 7/14 - 2
17-44064444-G-C c.1165G>C p.Asp389His Missense 7/14 - 1
17-44064453-A-G c.1174A>G p.Lys392Glu Missense 7/14 - 1
17-44064457-C-T c.1178C>T p.Ala393Val Missense 7/14 - 1
17-44064759-A-C c.1182+298A>C - IntronicSNV - 7/13 4
17-44064851-C-T c.1182+390C>T - IntronicSNV - 7/13 13
17-44065063-C-T c.1182+602C>T - IntronicSNV - 7/13 1
17-44065125-C-G c.1182+664C>G - IntronicSNV - 7/13 1
17-44065125-C-T c.1182+664C>T - IntronicSNV - 7/13 1
17-44065263-T-C c.1182+802T>C - IntronicSNV - 7/13 4
17-44065410-G-A c.1182+949G>A - IntronicSNV - 7/13 1
17-44065740-C-T c.1182+1279C>T - IntronicSNV - 7/13 3
17-44065741-G-A c.1182+1280G>A - IntronicSNV - 7/13 1
17-44066088-T-A c.1183-1156T>A - IntronicSNV - 7/13 1
17-44066172-A-G c.1183-1072A>G - IntronicSNV - 7/13 1
17-44066464-G-A c.1183-780G>A - IntronicSNV - 7/13 1
17-44066634-C-G c.1183-610C>G - IntronicSNV - 7/13 1
17-44066634-C-T c.1183-610C>T - IntronicSNV - 7/13 1
17-44067247-T-C c.1186T>C p.Ser396Pro Missense 8/14 - 1
17-44067247-TCC-GAG c.1186_1188delinsGAG p.Ser396Glu Missense 8/14 - 7
17-44067247-TC-GA c.1186_1187inv p.Ser396Asp Missense 8/14 - 2
17-44067247-T-G c.1186T>G p.Ser396Ala Missense 8/14 - 10
17-44067249-C-A c.1188C>A p.Ser396Ser Synonymous 8/14 - 1
17-44067249-C-G c.1188C>G p.Ser396Ser Synonymous 8/14 - 1
17-44067249-C-T c.1188C>T p.Ser396Ser Synonymous 8/14 - 1
17-44067254-G-A c.1193G>A p.Arg398His Missense 8/14 - 1
17-44067259-TCT-ATG c.1198_1200delinsATG p.Ser400Met Missense 8/14 - 1
17-44067259-T-G c.1198T>G p.Ser400Ala Missense 8/14 - 1
17-44067260-C-G c.1199C>G p.Ser400Cys Missense 8/14 - 1
17-44067280-A-T c.1219A>T p.Arg407Trp Missense 8/14 - 1
17-44067282-G-A c.1221G>A p.Arg407Arg Synonymous 8/14 - 1
17-44067289-C-T c.1228C>T p.Leu410Phe Missense 8/14 - 1
17-44067290-T-C c.1229T>C p.Leu410Pro Missense 8/14 - 1
17-44067297-C-T c.1236C>T p.Pro412Pro Synonymous 8/14 - 1
17-44067304-C-A c.1243C>A p.Pro415Thr Missense 8/14 - 1
17-44067307-A-G c.1246A>G p.Thr416Ala Missense 8/14 - 1
17-44067313-GGT-ATG c.1252_1254delinsATG p.Gly418Met Missense 8/14 - 1
17-44067319-T-C c.1258T>C p.Ser420Pro Missense 8/14 - 1
17-44067323-A-C c.1262A>C p.Asp421Ala Missense 8/14 - 3
17-44067324-C-A c.1263C>A p.Asp421Glu Missense 8/14 - 4
17-44067324-C-G c.1263C>G p.Asp421Glu Missense 8/14 - 4
17-44067325-C-T c.1264C>T p.Pro422Ser Missense 8/14 - 1
17-44067341-C-T c.1280C>T p.Ser427Phe Missense 8/14 - 11
17-44067367-C-A c.1306C>A p.Pro436Thr Missense 8/14 - 1
17-44067370-T-G c.1309T>G p.Ser437Ala Missense 8/14 - 1
17-44067382-TA-GC c.1321_1322delinsGC p.Tyr441Ala Missense 8/14 - 1
17-44067382-T-C c.1321T>C p.Tyr441His Missense 8/14 - 20
17-44067383-A-G c.1322A>G p.Tyr441Cys Missense 8/14 - 1
17-44067391-T-G c.1330T>G p.Ser444Ala Missense 8/14 - 1
17-44067400-T-C c.1339T>C p.Ser447Pro Missense 8/14 - 25
17-44067401-CC-AA c.1340_1341delinsAA p.Ser447* Nonsense 8/14 - 2
17-44067403-C-T c.1342C>T p.Arg448* Nonsense 8/14 - 1
17-44067406-AC-GT c.1345_1346inv p.Thr449Val Missense 8/14 - 1
17-44067406-A-T c.1345A>T p.Thr449Ser Missense 8/14 - 1
17-44067407-C-G c.1346C>G p.Thr449Ser Missense 8/14 - 1
17-44067419-G-A c.1358G>A p.Gly453Glu Missense 8/14 - 1
17-44067419-GA-AC c.1358_1359delinsAC p.Gly453Asp Missense 8/14 - 1
17-44067422-C-G c.1361C>G p.Ala454Gly Missense 8/14 - 3
17-44067546-T-C c.1380+105T>C - IntronicSNV - 8/13 4
17-44067682-G-A c.1380+241G>A - IntronicSNV - 8/13 5
17-44068112-C-G c.1380+671C>G - IntronicSNV - 8/13 2
17-44068112-C-T c.1380+671C>T - IntronicSNV - 8/13 2
17-44068238-C-T c.1381-588C>T - IntronicSNV - 8/13 3
17-44068289-G-A c.1381-537G>A - IntronicSNV - 8/13 2
17-44068339-G-A c.1381-487G>A - IntronicSNV - 8/13 1
17-44068481-G-A c.1381-345G>A - IntronicSNV - 8/13 2
17-44068492-A-G c.1381-334A>G - IntronicSNV - 8/13 1
17-44068752-G-A c.1381-74G>A - IntronicSNV - 8/13 1
17-44068835-G-C c.1390G>C p.Gly464Arg Missense 9/14 - 1
17-44068836-G-A c.1391G>A p.Gly464Asp Missense 9/14 - 1
17-44068836-G-T c.1391G>T p.Gly464Val Missense 9/14 - 1
17-44068836-GT-AG c.1391_1392delinsAG p.Gly464Glu Missense 9/14 - 1
17-44068848-T-C c.1403T>C p.Ile468Thr Missense 9/14 - 1
17-44068850-G-A c.1405G>A p.Ala469Thr Missense 9/14 - 20
17-44068850-G-T c.1405G>T p.Ala469Ser Missense 9/14 - 15
17-44068851-C-G c.1406C>G p.Ala469Gly Missense 9/14 - 1
17-44068856-C-T c.1411C>T p.Pro471Ser Missense 9/14 - 1
17-44068864-A-C c.1419A>C p.Gly473Gly Synonymous 9/14 - 1
17-44068864-A-G c.1419A>G p.Gly473Gly Synonymous 9/14 - 1
17-44068864-A-T c.1419A>T p.Gly473Gly Synonymous 9/14 - 1
17-44068866-C-A c.1421C>A p.Ala474Glu Missense 9/14 - 1
17-44068884-A-G c.1439A>G p.Lys480Arg Missense 9/14 - 1
17-44068886-GGC-ATG c.1441_1443delinsATG p.Gly481Met Missense 9/14 - 1
17-44068886-G-T c.1441G>T p.Gly481Cys Missense 9/14 - 1
17-44068887-G-C c.1442G>C p.Gly481Ala Missense 9/14 - 1
17-44068889-C-T c.1444C>T p.Gln482* Nonsense 9/14 - 1
17-44068897-C-T c.1452C>T p.Asn484Asn Synonymous 9/14 - 1
17-44068904-AGG-CAT c.1459_1461delinsCAT p.Arg487His Missense 9/14 - 1
17-44068917-A-G c.1472A>G p.Lys491Arg Missense 9/14 - 1
17-44068919-AC-GT c.1474_1475inv p.Thr492Val Missense 9/14 - 2
17-44068924-G-A c.1479G>A p.Pro493Pro Synonymous 9/14 - 19
17-44068924-G-T c.1479G>T p.Pro493Pro Synonymous 9/14 - 18
17-44068928-G-A c.1483G>A p.Ala495Thr Missense 9/14 - 3
17-44068935-A-G c.1490A>G p.Lys497Arg Missense 9/14 - 1
17-44068949-T-C c.1504T>C p.Ser502Pro Missense 9/14 - 1
17-44068949-TC-AA c.1504_1505delinsAA p.Ser502Asn Missense 9/14 - 1
17-44068950-C-A c.1505C>A p.Ser502Tyr Missense 9/14 - 1
17-44069147-C-A c.1507+195C>A - IntronicSNV - 9/13 1
17-44070111-G-C c.1507+1159G>C - IntronicSNV - 9/13 1
17-44070545-G-A c.1507+1593G>A - IntronicSNV - 9/13 1
17-44070583-A-G c.1507+1631A>G - IntronicSNV - 9/13 3
17-44070956-T-A c.1507+2004T>A - IntronicSNV - 9/13 1
17-44071089-C-G c.1507+2137C>G - IntronicSNV - 9/13 8
17-44071089-C-T c.1507+2137C>T - IntronicSNV - 9/13 8
17-44071294-T-C c.1507+2342T>C - IntronicSNV - 9/13 3
17-44071674-A-G c.1508-2091A>G - IntronicSNV - 9/13 1
17-44071851-G-A c.1508-1914G>A - IntronicSNV - 9/13 14
17-44072017-C-A c.1508-1748C>A - IntronicSNV - 9/13 1
17-44072017-C-T c.1508-1748C>T - IntronicSNV - 9/13 1
17-44072041-T-A c.1508-1724T>A - IntronicSNV - 9/13 2
17-44072854-T-C c.1508-911T>C - IntronicSNV - 9/13 1
17-44072881-C-G c.1508-884C>G - IntronicSNV - 9/13 1
17-44072984-A-G c.1508-781A>G - IntronicSNV - 9/13 1
17-44073027-G-A c.1508-738G>A - IntronicSNV - 9/13 2
17-44073062-T-G c.1508-703T>G - IntronicSNV - 9/13 1
17-44073145-G-C c.1508-620G>C - IntronicSNV - 9/13 1
17-44073739-G-A c.1508-26G>A - IntronicSNV - 9/13 3
17-44073765-G-C c.1508G>C p.Gly503Ala Missense 10/14 - 1
17-44073765-G-T c.1508G>T p.Gly503Val Missense 10/14 - 1
17-44073770-C-T c.1513C>T p.Pro505Ser Missense 10/14 - 1
17-44073773-C-A c.1516C>A p.Pro506Thr Missense 10/14 - 1
17-44073780-CA-GT c.1523_1524delinsGT p.Ser508Cys Missense 10/14 - 1
17-44073789-G-A c.1532G>A p.Arg511His Missense 10/14 - 1
17-44073800-A-T c.1543A>T p.Ser515Cys Missense 10/14 - 1
17-44073801-G-T c.1544G>T p.Ser515Ile Missense 10/14 - 1
17-44073818-G-A c.1561G>A p.Gly521Ser Missense 10/14 - 2
17-44073821-A-G c.1564A>G p.Thr522Ala Missense 10/14 - 1
17-44073826-C-G c.1569C>G p.Pro523Pro Synonymous 10/14 - 1
17-44073834-G-A c.1577G>A p.Arg526His Missense 10/14 - 1
17-44073834-G-T c.1577G>T p.Arg526Leu Missense 10/14 - 1
17-44073839-CG-AC c.1582_1583delinsAC p.Arg528Thr Missense 10/14 - 1
17-44073840-GC-AA c.1583_1584delinsAA p.Arg528Gln Missense 10/14 - 1
17-44073869-C-T c.1612C>T p.Arg538Trp Missense 10/14 - 1
17-44073873-A-G c.1616A>G p.Glu539Gly Missense 10/14 - 1
17-44073878-A-C c.1621A>C p.Lys541Gln Missense 10/14 - 1
17-44073882-A-T c.1625A>T p.Lys542Met Missense 10/14 - 1
17-44073884-G-A c.1627G>A p.Val543Met Missense 10/14 - 1
17-44073886-G-A c.1629G>A p.Val543Val Synonymous 10/14 - 1
17-44073889-A-C c.1632A>C p.Ala544Ala Synonymous 10/14 - 2
17-44073889-A-G c.1632A>G p.Ala544Ala Synonymous 10/14 - 82
17-44073889-A-T c.1632A>T p.Ala544Ala Synonymous 10/14 - 2
17-44073890-G-A c.1633G>A p.Val545Met Missense 10/14 - 2
17-44073890-G-C c.1633G>C p.Val545Leu Missense 10/14 - 1
17-44073890-GTG-ATC c.1633_1635delinsATC p.Val545Ile Missense 10/14 - 1
17-44073892-G-C c.1635G>C p.Val545Val Synonymous 10/14 - 1
17-44073892-G-T c.1635G>T p.Val545Val Synonymous 10/14 - 1
17-44073894-T-C c.1637T>C p.Val546Ala Missense 10/14 - 1
17-44073906-C-G c.1649C>G p.Pro550Arg Missense 10/14 - 1
17-44073910-G-A c.1653G>A p.Lys551Lys Synonymous 10/14 - 1
17-44073914-C-A c.1657C>A p.Pro553Thr Missense 10/14 - 1
17-44073923-G-A c.1666G>A p.Ala556Thr Missense 10/14 - 6
17-44073923-G-T c.1666G>T p.Ala556Ser Missense 10/14 - 4
17-44073941-A-G c.1684A>G p.Thr562Ala Missense 10/14 - 1
17-44073943-A-G c.1686A>G p.Thr562Thr Synonymous 10/14 - 1
17-44073949-C-CC c.1692dup p.Val565Argfs*17 Frameshift 10/14 - 1
17-44073972-A-G c.1715A>G p.Asn572Ser Missense 10/14 - 1
17-44073973-T-C c.1716T>C p.Asn572Asn Synonymous 10/14 - 25
17-44073978-A-C c.1721A>C p.Lys574Thr Missense 10/14 - 3
17-44073986-A-G c.1729A>G p.Ile577Val Missense 10/14 - 1
17-44073990-G-GG c.1733dup p.Ser579Leufs*3 Frameshift 10/14 - 1
17-44074004-C-G c.1747C>G p.Leu583Val Missense 10/14 - 1
17-44074004-C-T c.1747C>T p.Leu583Leu Synonymous 10/14 - 1
17-44074012-C-T c.1755C>T p.His585His Synonymous 10/14 - 1
17-44074018-G-A c.1761G>A p.Pro587Pro Synonymous 10/14 - 8
17-44074018-G-C c.1761G>C p.Pro587Pro Synonymous 10/14 - 2
17-44074018-G-T c.1761G>T p.Pro587Pro Synonymous 10/14 - 2
17-44074023-G-T c.1766G>T p.Gly589Val Missense 10/14 - 1
17-44074435-C-G c.1773+405C>G - IntronicSNV - 10/13 2
17-44074581-A-G c.1773+551A>G - IntronicSNV - 10/13 2
17-44074613-A-G c.1773+583A>G - IntronicSNV - 10/13 2
17-44074619-G-A c.1773+589G>A - IntronicSNV - 10/13 2
17-44075099-T-C c.1773+1069T>C - IntronicSNV - 10/13 3
17-44075110-A-T c.1773+1080A>T - IntronicSNV - 10/13 3
17-44075535-T-C c.1773+1505T>C - IntronicSNV - 10/13 2
17-44075837-T-A c.1773+1807T>A - IntronicSNV - 10/13 1
17-44075837-T-C c.1773+1807T>C - IntronicSNV - 10/13 1
17-44075901-A-G c.1773+1871A>G - IntronicSNV - 10/13 10
17-44076063-C-T c.1773+2033C>T - IntronicSNV - 10/13 43
17-44076466-A-G c.1773+2436A>G - IntronicSNV - 10/13 2
17-44077708-G-T c.1773+3678G>T - IntronicSNV - 10/13 1
17-44077850-G-A c.1773+3820G>A - IntronicSNV - 10/13 3
17-44077850-G-T c.1773+3820G>T - IntronicSNV - 10/13 3
17-44077851-T-A c.1773+3821T>A - IntronicSNV - 10/13 2
17-44078616-G-A c.1773+4586G>A - IntronicSNV - 10/13 2
17-44078832-G-A c.1773+4802G>A - IntronicSNV - 10/13 2
17-44078892-G-A c.1773+4862G>A - IntronicSNV - 10/13 2
17-44078982-T-A c.1773+4952T>A - IntronicSNV - 10/13 2
17-44079721-A-G c.1773+5691A>G - IntronicSNV - 10/13 2
17-44080039-T-G c.1773+6009T>G - IntronicSNV - 10/13 2
17-44080836-G-A c.1773+6806G>A - IntronicSNV - 10/13 1
17-44081064-A-G c.1774-6612A>G - IntronicSNV - 10/13 76
17-44081178-T-C c.1774-6498T>C - IntronicSNV - 10/13 1
17-44081224-G-A c.1774-6452G>A - IntronicSNV - 10/13 4
17-44081268-G-A c.1774-6408G>A - IntronicSNV - 10/13 3
17-44081462-T-C c.1774-6214T>C - IntronicSNV - 10/13 2
17-44081527-T-C c.1774-6149T>C - IntronicSNV - 10/13 2
17-44082514-T-C c.1774-5162T>C - IntronicSNV - 10/13 2
17-44082528-A-C c.1774-5148A>C - IntronicSNV - 10/13 2
17-44082528-A-T c.1774-5148A>T - IntronicSNV - 10/13 2
17-44082603-A-C c.1774-5073A>C - IntronicSNV - 10/13 2
17-44082981-G-A c.1774-4695G>A - IntronicSNV - 10/13 2
17-44083081-G-A c.1774-4595G>A - IntronicSNV - 10/13 3
17-44083297-T-C c.1774-4379T>C - IntronicSNV - 10/13 2
17-44083323-C-T c.1774-4353C>T - IntronicSNV - 10/13 2
17-44083402-G-A c.1774-4274G>A - IntronicSNV - 10/13 12
17-44083948-T-C c.1774-3728T>C - IntronicSNV - 10/13 6
17-44083948-T-G c.1774-3728T>G - IntronicSNV - 10/13 6
17-44084002-T-C c.1774-3674T>C - IntronicSNV - 10/13 1
17-44084403-G-A c.1774-3273G>A - IntronicSNV - 10/13 1
17-44084403-G-C c.1774-3273G>C - IntronicSNV - 10/13 1
17-44084676-C-T c.1774-3000C>T - IntronicSNV - 10/13 2
17-44087500-A-G c.1774-176A>G - IntronicSNV - 10/13 1
17-44087677-T-C c.1775T>C p.Val592Ala Missense 11/14 - 1
17-44087685-A-G c.1783A>G p.Ile595Val Missense 11/14 - 1
17-44087686-T-C c.1784T>C p.Ile595Thr Missense 11/14 - 1
17-44087688-AA-GG c.1786_1787delinsGG p.Asn596Gly Missense 11/14 - 1
17-44087690-T-G c.1788T>G p.Asn596Lys Missense 11/14 - 4
17-44087691-A-C c.1789A>C p.Lys597Gln Missense 11/14 - 1
17-44087700-G-A c.1798G>A p.Asp600Asn Missense 11/14 - 1
17-44087700-G-T c.1798G>T p.Asp600Tyr Missense 11/14 - 1
17-44087703-C-G c.1801C>G p.Leu601Val Missense 11/14 - 1
17-44087717-G-A c.1815G>A p.Gln605Gln Synonymous 11/14 - 2
17-44087742-A-G c.1840A>G p.Ile614Val Missense 11/14 - 1
17-44087751-G-T c.1849G>T p.Val617Phe Missense 11/14 - 4
17-44087754-C-T c.1852C>T p.Pro618Ser Missense 11/14 - 1
17-44087755-C-T c.1853C>T p.Pro618Leu Missense 11/14 - 9
17-44087757-GG-CC c.1855_1856inv p.Gly619Pro Missense 11/14 - 1
17-44087767-G-A c.1865G>A p.Ser622Asn Missense 11/14 - 3
17-44087768-T-C c.1866T>C p.Ser622Ser Synonymous 11/14 - 1
17-44087784-C-T c.1866+16C>T - IntronicSNV - 11/13 1
17-44087793-C-G c.1866+25C>G - IntronicSNV - 11/13 1
17-44087793-C-T c.1866+25C>T - IntronicSNV - 11/13 1
17-44088937-G-A c.1866+1169G>A - IntronicSNV - 11/13 4
17-44088937-G-C c.1866+1169G>C - IntronicSNV - 11/13 4
17-44089108-T-C c.1866+1340T>C - IntronicSNV - 11/13 1
17-44089563-C-T c.1866+1795C>T - IntronicSNV - 11/13 3
17-44089690-T-C c.1867-1919T>C - IntronicSNV - 11/13 1
17-44089715-C-T c.1867-1894C>T - IntronicSNV - 11/13 1
17-44089727-G-A c.1867-1882G>A - IntronicSNV - 11/13 1
17-44090035-C-G c.1867-1574C>G - IntronicSNV - 11/13 1
17-44090196-T-C c.1867-1413T>C - IntronicSNV - 11/13 1
17-44090455-T-C c.1867-1154T>C - IntronicSNV - 11/13 1
17-44090536-G-A c.1867-1073G>A - IntronicSNV - 11/13 3
17-44090685-G-T c.1867-924G>T - IntronicSNV - 11/13 4
17-44090704-A-G c.1867-905A>G - IntronicSNV - 11/13 1
17-44090778-T-A c.1867-831T>A - IntronicSNV - 11/13 1
17-44090779-C-A c.1867-830C>A - IntronicSNV - 11/13 1
17-44090779-C-T c.1867-830C>T - IntronicSNV - 11/13 1
17-44090796-T-C c.1867-813T>C - IntronicSNV - 11/13 2
17-44090854-C-T c.1867-755C>T - IntronicSNV - 11/13 1
17-44090858-C-T c.1867-751C>T - IntronicSNV - 11/13 1
17-44091092-G-A c.1867-517G>A - IntronicSNV - 11/13 1
17-44091092-G-C c.1867-517G>C - IntronicSNV - 11/13 1
17-44091195-T-C c.1867-414T>C - IntronicSNV - 11/13 1
17-44091624-A-G c.1882A>G p.Lys628Glu Missense 12/14 - 1
17-44091637-T-G c.1895T>G p.Leu632Arg Missense 12/14 - 2
17-44091638-G-A c.1896G>A p.Leu632Leu Synonymous 12/14 - 2
17-44091643-A-T c.1901A>T p.Lys634Met Missense 12/14 - 1
17-44091649-C-T c.1907C>T p.Thr636Ile Missense 12/14 - 9
17-44091651-TC-GA c.1909_1910inv p.Ser637Asp Missense 12/14 - 1
17-44091652-C-T c.1910C>T p.Ser637Phe Missense 12/14 - 2
17-44091661-G-A c.1919G>A p.Gly640Asp Missense 12/14 - 7
17-44091661-G-T c.1919G>T p.Gly640Val Missense 12/14 - 1
17-44091685-AA-GC c.1943_1944delinsGC p.Lys648Ser Missense 12/14 - 1
17-44091724-G-A c.1948+34G>A - IntronicSNV - 12/13 3
17-44091780-G-A c.1948+90G>A - IntronicSNV - 12/13 1
17-44091886-C-T c.1948+196C>T - IntronicSNV - 12/13 1
17-44092497-T-C c.1948+807T>C - IntronicSNV - 12/13 1
17-44093319-G-A c.1948+1629G>A - IntronicSNV - 12/13 2
17-44093496-A-G c.1948+1806A>G - IntronicSNV - 12/13 2
17-44093627-A-G c.1948+1937A>G - IntronicSNV - 12/13 1
17-44093860-A-G c.1949-2124A>G - IntronicSNV - 12/13 2
17-44093964-T-C c.1949-2020T>C - IntronicSNV - 12/13 1
17-44093964-T-G c.1949-2020T>G - IntronicSNV - 12/13 1
17-44094471-G-A c.1949-1513G>A - IntronicSNV - 12/13 8
17-44094471-G-T c.1949-1513G>T - IntronicSNV - 12/13 8
17-44094667-C-G c.1949-1317C>G - IntronicSNV - 12/13 2
17-44095986-G-A c.1951G>A p.Gly651Ser Missense 13/14 - 1
17-44095989-G-A c.1954G>A p.Gly652Ser Missense 13/14 - 1
17-44095990-G-T c.1955G>T p.Gly652Val Missense 13/14 - 1
17-44095992-C-T c.1957C>T p.Gln653* Nonsense 13/14 - 1
17-44095993-A-G c.1958A>G p.Gln653Arg Missense 13/14 - 1
17-44095994-G-A c.1959G>A p.Gln653Gln Synonymous 13/14 - 1
17-44095995-G-A c.1960G>A p.Val654Met Missense 13/14 - 2
17-44095996-T-C c.1961T>C p.Val654Ala Missense 13/14 - 1
17-44096008-C-G c.1973C>G p.Ser658Cys Missense 13/14 - 1
17-44096011-A-T c.1976A>T p.Glu659Val Missense 13/14 - 1
17-44096018-T-A c.1983T>A p.Leu661Leu Synonymous 13/14 - 1
17-44096018-T-C c.1983T>C p.Leu661Leu Synonymous 13/14 - 1
17-44096027-G-A c.1992G>A p.Lys664Lys Synonymous 13/14 - 1
17-44096041-C-T c.2006C>T p.Ser669Leu Missense 13/14 - 2
17-44096043-AA-CT c.2008_2009delinsCT p.Lys670Leu Missense 13/14 - 1
17-44096044-A-G c.2009A>G p.Lys670Arg Missense 13/14 - 1
17-44096044-A-T c.2009A>T p.Lys670Met Missense 13/14 - 13
17-44096045-G-C c.2010G>C p.Lys670Asn Missense 13/14 - 77
17-44096045-G-T c.2010G>T p.Lys670Asn Missense 13/14 - 77
17-44096049-G-A c.2014G>A p.Gly672Arg Missense 13/14 - 4
17-44096066-C-G c.2031C>G p.Ile677Met Missense 13/14 - 1
17-44096073-G-A c.2038G>A p.Val680Ile Missense 13/14 - 2
17-44096092-A-T c.2057A>T p.Lys686Ile Missense 13/14 - 2
17-44096553-G-A c.2061+457G>A - IntronicSNV - 13/13 3
17-44097249-G-A c.2061+1153G>A - IntronicSNV - 13/13 2
17-44098797-C-T c.2062-2525C>T - IntronicSNV - 13/13 2
17-44098967-G-A c.2062-2355G>A - IntronicSNV - 13/13 1
17-44099417-C-T c.2062-1905C>T - IntronicSNV - 13/13 1
17-44101329-C-T c.2069C>T p.Thr690Ile Missense 14/14 - 1
17-44101349-G-T c.2089G>T p.Glu697* Nonsense 14/14 - 1
17-44101361-G-A c.2101G>A p.Ala701Thr Missense 14/14 - 1
17-44101366-G-A c.2106G>A p.Lys702Lys Synonymous 14/14 - 1
17-44101370-G-A c.2110G>A p.Asp704Asn Missense 14/14 - 2
17-44101372-C-T c.2112C>T p.Asp704Asp Synonymous 14/14 - 1
17-44101376-G-A c.2116G>A p.Gly706Arg Missense 14/14 - 3
17-44101376-G-C c.2116G>C p.Gly706Arg Missense 14/14 - 3
17-44101377-G-T c.2117G>T p.Gly706Val Missense 14/14 - 1
17-44101384-G-A c.2124G>A p.Glu708Glu Synonymous 14/14 - 1
17-44101385-A-G c.2125A>G p.Ile709Val Missense 14/14 - 1
17-44101400-C-T c.2140C>T p.Pro714Ser Missense 14/14 - 1
17-44101403-G-A c.2143G>A p.Val715Met Missense 14/14 - 1
17-44101406-GTG-TTT c.2146_2148delinsTTT p.Val716Phe Missense 14/14 - 1
17-44101409-T-G c.2149T>G p.Ser717Ala Missense 14/14 - 1
17-44101410-C-T c.2150C>T p.Ser717Phe Missense 14/14 - 1
17-44101415-G-A c.2155G>A p.Asp719Asn Missense 14/14 - 2
17-44101415-G-T c.2155G>T p.Asp719Tyr Missense 14/14 - 1
17-44101427-C-T c.2167C>T p.Arg723Trp Missense 14/14 - 9
17-44101431-CATCTCAGCAATG-C c.2171_2182del p.His724_Val728delinsLeu MultiAAMissense 14/14 - 1
17-44101463-G-A c.2203G>A p.Asp735Asn Missense 14/14 - 1
17-44101469-GG-G c.2209del p.Val737* Frameshift 14/14 - 1
17-44101481-C-A c.2221C>A p.Gln741Lys Missense 14/14 - 3
17-44101481-C-T c.2221C>T p.Gln741* Nonsense 14/14 - 4
17-44101485-T-C c.2225T>C p.Leu742Pro Missense 14/14 - 1
17-44101491-C-A c.2231C>A p.Thr744Lys Missense 14/14 - 3
17-44101491-C-T c.2231C>T p.Thr744Met Missense 14/14 - 3
17-44101495-TAGCTGACGAGGTGTC-T c.2235_2249del p.Asp747_Ala751del InFrameDeletion 14/14 - 1
17-44101495-TAGCTGACGAGGTGTCTGC-T c.2235_2252del p.Ala746_Ala751del InFrameDeletion 14/14 - 1
17-44101496-AGCTGACGAGGTGTCTGCC-A c.2236_2253del p.Ala746_Ala751del InFrameDeletion 14/14 - 1
17-44101496-G-A c.2236G>A p.Ala746Thr Missense 14/14 - 1
17-44101498-CTGACGAGGTGTCTGC-C c.2238_2252del p.Asp747_Ala751del InFrameDeletion 14/14 - 1
17-44101498-CTGACGAGGTGTCTGCCTC-C c.2238_2255del p.Asp747_Ser752del InFrameDeletion 14/14 - 1
17-44101499-TGACGAGGTG-T c.2239_2247del p.Asp747_Val749del InFrameDeletion 14/14 - 1
17-44101499-TGACGAGGTGTCTGCC-T c.2239_2253del p.Asp747_Ala751del InFrameDeletion 14/14 - 1
17-44101499-TGACGAGGTGTCTGCCTCC-T c.2239_2256del p.Asp747_Ser752del InFrameDeletion 14/14 - 1
17-44101500-GACGAGGTGTCTGCCTCCC-G c.2240_2257del p.Asp747_Leu753delinsVal MultiAAMissense 14/14 - 1
17-44101500-GACGAGGTGTCTGCCT-G c.2240_2254del p.Asp747_Ser752delinsAla MultiAAMissense 14/14 - 1
17-44101500-GACGAGGTGTCTG-G c.2240_2251del p.Asp747_Ser750del InFrameDeletion 14/14 - 1
17-44101502-G-T c.2242G>T p.Glu748* Nonsense 14/14 - 1
17-44101511-GC-TT c.2251_2252delinsTT p.Ala751Phe Missense 14/14 - 1
17-44101513-CCTCCCTGGCCAAGCAGGGTTTGTG-C c.2253_2276del p.SerLeuAlaLysGlnGlyLeu*752delext*? InFrameDeletion 14/14 - 1
17-44101515-C-A c.2255C>A p.Ser752Tyr Missense 14/14 - 1
17-44101516-CCCTGGCCAAGCAGGGTTTGTGATC-C c.2256_*2del - CdsStopDeletion 14/14 - 1
17-44101517-C-T c.2257C>T p.Leu753Leu Synonymous 14/14 - 1
17-44101563-T-C c.*26T>C - 3-UTRSNV 14/14 - 36
17-44101613-G-A c.*76G>A - 3-UTRSNV 14/14 - 1
17-44101778-T-TT c.*241dup - 3-UTRInsertion 14/14 - 1
17-44101779-A-T c.*242A>T - 3-UTRSNV 14/14 - 1
17-44101854-C-CC c.*317dup - 3-UTRInsertion 14/14 - 1
17-44101871-A-G c.*334A>G - 3-UTRSNV 14/14 - 1
17-44102001-G-A c.*464G>A - 3-UTRSNV 14/14 - 2
17-44102446-C-CCT c.*909_*910insCT - 3-UTRInsertion 14/14 - 1
17-44102446-CT-CTCT c.*909_*910dup - 3-UTRInsertion 14/14 - 1
17-44102497-C-CC c.*960dup - 3-UTRInsertion 14/14 - 1
17-44102604-T-C c.*1067T>C - 3-UTRSNV 14/14 - 13
17-44102638-A-G c.*1101A>G - 3-UTRSNV 14/14 - 1
17-44102689-G-A c.*1152G>A - 3-UTRSNV 14/14 - 3
17-44102689-G-C c.*1152G>C - 3-UTRSNV 14/14 - 3
17-44102865-A-C c.*1328A>C - 3-UTRSNV 14/14 - 6
17-44102933-T-C c.*1396T>C - 3-UTRSNV 14/14 - 3
17-44103140-C-A c.*1603C>A - 3-UTRSNV 14/14 - 1
17-44103296-T-C c.*1759T>C - 3-UTRSNV 14/14 - 4
17-44103474-G-A c.*1937G>A - 3-UTRSNV 14/14 - 1
17-44103616-C-T c.*2079C>T - 3-UTRSNV 14/14 - 3
17-44103704-G-A c.*2167G>A - 3-UTRSNV 14/14 - 2
17-44103704-G-C c.*2167G>C - 3-UTRSNV 14/14 - 2
17-44103806-G-A c.*2269G>A - 3-UTRSNV 14/14 - 1
17-44103806-G-T c.*2269G>T - 3-UTRSNV 14/14 - 1
17-44103826-G-A c.*2289G>A - 3-UTRSNV 14/14 - 9
17-44103927-C-CT c.*2390_*2391insT - 3-UTRInsertion 14/14 - 2
17-44104343-A-C c.*2806A>C - 3-UTRSNV 14/14 - 6
17-44104347-G-A c.*2810G>A - 3-UTRSNV 14/14 - 1
17-44104410-T-TT c.*2873dup - 3-UTRInsertion 14/14 - 1
17-44104509-T-C c.*2972T>C - 3-UTRSNV 14/14 - 13
17-44104580-CT-CTCT c.*3043_*3044dup - 3-UTRInsertion 14/14 - 1
17-44104599-G-GG c.*3062dup - 3-UTRInsertion 14/14 - 1
17-44104616-G-GG c.*3079dup - 3-UTRInsertion 14/14 - 1
17-44104972-T-C c.*3435T>C - 3-UTRSNV 14/14 - 1
17-44105385-A-G c.*3848A>G - 3-UTRSNV 14/14 - 1
17-44105395-A-C c.*3858A>C - 3-UTRSNV 14/14 - 40
17-44105395-A-G c.*3858A>G - 3-UTRSNV 14/14 - 40