APOB apolipoprotein B

Annotation transcript: NM_000384.3

690 unique variant annotations were identified in 785 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-21224422-C-A c.*180G>T - 3-UTRSNV 29/29 - 1
2-21224422-C-T c.*180G>A - 3-UTRSNV 29/29 - 1
2-21224697-T-A c.13597A>T p.I4533L Missense 29/29 - 1
2-21224725-C-T c.13569G>A p.L4523= Synonymous 29/29 - 1
2-21224742-T-C c.13552A>G p.K4518E Missense 29/29 - 1
2-21224811-A-G c.13483T>C p.F4495L Missense 29/29 - 1
2-21224811-ACTG-A c.13480_13482del p.Q4494del InFrameDeletion 29/29 - 10
2-21224841-T-TA c.13452_13453insT p.K4485* Nonsense 29/29 - 1
2-21224843-G-A c.13451C>T p.T4484M Missense 29/29 - 3
2-21224843-G-T c.13451C>A p.T4484K Missense 29/29 - 1
2-21224849-A-G c.13445T>C p.I4482T Missense 29/29 - 1
2-21224853-C-G c.13441G>C p.A4481P Missense 29/29 - 1
2-21224853-C-T c.13441G>A p.A4481T Missense 29/29 - 7
2-21224854-C-T c.13440G>A p.Q4480= Synonymous 29/29 - 1
2-21224856-G-A c.13438C>T p.Q4480* Nonsense 29/29 - 1
2-21224871-C-CA c.13422_13423insT p.E4475* Nonsense 29/29 - 1
2-21224904-C-CA c.13389_13390insT p.E4464* Nonsense 29/29 - 1
2-21224907-T-C c.13387A>G p.K4463E Missense 29/29 - 1
2-21224927-G-A c.13367C>T p.T4456I Missense 29/29 - 1
2-21225006-A-T c.13288T>A p.S4430T Missense 29/29 - 1
2-21225030-G-A c.13264C>T p.H4422Y Missense 29/29 - 1
2-21225045-C-T c.13249G>A p.A4417T Missense 29/29 - 1
2-21225052-AC-A c.13242del p.L4415* Frameshift 29/29 - 1
2-21225106-CC-AT c.13187_13188delinsAT p.W4396Y Missense 29/29 - 2
2-21225111-C-T c.13183G>A p.G4395S Missense 29/29 - 1
2-21225113-A-G c.13181T>C p.V4394A Missense 29/29 - 1
2-21225119-C-T c.13175G>A p.S4392N Missense 29/29 - 2
2-21225140-C-T c.13154G>A p.R4385H Missense 29/29 - 1
2-21225143-A-G c.13151T>C p.L4384P Missense 29/29 - 3
2-21225168-G-A c.13126C>T p.Q4376* Nonsense 29/29 - 1
2-21225198-C-T c.13096G>A p.E4366K Missense 29/29 - 1
2-21225259-A-C c.13035T>G p.F4345L Missense 29/29 - 1
2-21225259-A-T c.13035T>A p.F4345L Missense 29/29 - 1
2-21225261-A-G c.13033T>C p.F4345L Missense 29/29 - 1
2-21225264-CAT-C c.13028_13029del p.Y4343Cfs*3 Frameshift 29/29 - 2
2-21225268-TG-T c.13025del p.P4342Hfs*7 Frameshift 29/29 - 1
2-21225281-C-A c.13013G>T p.S4338I Missense 29/29 - 2
2-21225281-C-T c.13013G>A p.S4338N Missense 29/29 - 59
2-21225311-T-A c.12983A>T p.Y4328F Missense 29/29 - 1
2-21225324-A-G c.12970T>C p.Y4324H Missense 29/29 - 1
2-21225354-T-C c.12940A>G p.I4314V Missense 29/29 - 2
2-21225357-T-A c.12937A>T p.N4313Y Missense 29/29 - 1
2-21225443-A-G c.12851T>C p.F4284S Missense 29/29 - 1
2-21225464-G-C c.12830C>G p.S4277* Nonsense 29/29 - 1
2-21225464-G-T c.12830C>A p.S4277* Nonsense 29/29 - 1
2-21225485-C-G c.12809G>C p.R4270T Missense 29/29 - 7
2-21225485-C-T c.12809G>A p.R4270K Missense 29/29 - 3
2-21225491-A-G c.12803T>C p.M4268T Missense 29/29 - 1
2-21225500-A-G c.12794T>C p.V4265A Missense 29/29 - 3
2-21225555-G-A c.12739C>T p.Q4247* Nonsense 29/29 - 2
2-21225581-C-T c.12713G>A p.G4238D Missense 29/29 - 1
2-21225612-G-C c.12682C>G p.L4228V Missense 29/29 - 1
2-21225615-C-A c.12679G>T p.V4227L Missense 29/29 - 1
2-21225615-C-G c.12679G>C p.V4227L Missense 29/29 - 1
2-21225625-C-T c.12669G>A p.E4223= Synonymous 29/29 - 1
2-21225654-C-T c.12640G>A p.E4214K Missense 29/29 - 1
2-21225667-C-T c.12627G>A p.G4209= Synonymous 29/29 - 1
2-21225680-G-A c.12614C>T p.P4205L Missense 29/29 - 2
2-21225687-G-A c.12607C>T p.Q4203* Nonsense 29/29 - 1
2-21225753-C-A c.12541G>T p.E4181* Nonsense 29/29 - 41
2-21225753-C-T c.12541G>A p.E4181K Missense 29/29 - 56
2-21225768-C-T c.12526G>A p.V4176I Missense 29/29 - 1
2-21225834-C-T c.12460G>A p.E4154K Missense 29/29 - 6
2-21225901-C-T c.12393G>A p.Q4131= Synonymous 29/29 - 1
2-21225912-C-A c.12382G>T p.V4128L Missense 29/29 - 1
2-21225912-C-G c.12382G>C p.V4128L Missense 29/29 - 1
2-21225912-C-T c.12382G>A p.V4128M Missense 29/29 - 4
2-21225917-A-G c.12377T>C p.I4126T Missense 29/29 - 1
2-21226119-C-T c.12175G>A p.E4059K Missense 29/29 - 1
2-21226182-T-C c.12112A>G p.I4038V Missense 29/29 - 1
2-21226465-A-G c.12088-259T>C - IntronicSNV - 28/28 1
2-21226560-A-G c.12088-354T>C - IntronicSNV - 28/28 4
2-21227212-C-T c.12016G>A p.V4006I Missense 28/29 - 3
2-21227223-G-A c.12005C>T p.A4002V Missense 28/29 - 1
2-21227263-G-A c.11965C>T p.R3989C Missense 28/29 - 1
2-21227299-T-G c.11929A>C p.N3977H Missense 28/29 - 1
2-21227300-TG-T c.11928del p.N3977Ifs*30 Frameshift 28/29 - 1
2-21227317-C-T c.11911G>A p.E3971K Missense 28/29 - 1
2-21227383-C-G c.11903+50G>C - IntronicSNV - 27/28 4
2-21227474-G-A c.11862C>T p.F3954= Synonymous 27/29 - 1
2-21227501-A-T c.11835T>A p.T3945= Synonymous 27/29 - 1
2-21227508-G-C c.11828C>G p.S3943C Missense 27/29 - 1
2-21227520-C-T c.11816G>A p.G3939D Missense 27/29 - 1
2-21227527-C-T c.11809G>A p.E3937K Missense 27/29 - 1
2-21227970-G-GGT c.11769_11770insAC p.L3924Tfs*2 Frameshift 26/29 - 1
2-21227976-G-A c.11764C>T p.Q3922* Nonsense 26/29 - 1
2-21227996-G-C c.11744C>G p.S3915C Missense 26/29 - 1
2-21228012-C-T c.11728G>A p.E3910K Missense 26/29 - 1
2-21228028-TG-T c.11712del p.N3904Kfs*21 Frameshift 26/29 - 1
2-21228086-G-A c.11654C>T p.A3885V Missense 26/29 - 1
2-21228104-G-A c.11636C>T p.S3879F Missense 26/29 - 1
2-21228198-C-T c.11542G>A p.A3848T Missense 26/29 - 1
2-21228233-G-A c.11507C>T p.A3836V Missense 26/29 - 1
2-21228263-G-A c.11477C>T p.T3826M Missense 26/29 - 2
2-21228306-C-CA c.11433dup p.E3812* Nonsense 26/29 - 1
2-21228339-A-T c.11401T>A p.S3801T Missense 26/29 - 3
2-21228357-C-A c.11383G>T p.D3795Y Missense 26/29 - 1
2-21228378-C-T c.11362G>A p.E3788K Missense 26/29 - 1
2-21228407-G-T c.11333C>A p.S3778* Nonsense 26/29 - 1
2-21228410-G-T c.11330C>A p.S3777* Nonsense 26/29 - 1
2-21228437-A-G c.11303T>C p.I3768T Missense 26/29 - 2
2-21228483-A-G c.11257T>C p.F3753L Missense 26/29 - 1
2-21228587-G-C c.11153C>G p.S3718* Nonsense 26/29 - 1
2-21228592-G-A c.11148C>T p.G3716= Synonymous 26/29 - 1
2-21228592-G-C c.11148C>G p.G3716= Synonymous 26/29 - 1
2-21228592-G-T c.11148C>A p.G3716= Synonymous 26/29 - 1
2-21228620-G-A c.11120C>T p.A3707V Missense 26/29 - 1
2-21228699-C-T c.11041G>A p.D3681N Missense 26/29 - 1
2-21228727-G-T c.11013C>A p.F3671L Missense 26/29 - 1
2-21228762-C-T c.10978G>A p.D3660N Missense 26/29 - 1
2-21228827-C-T c.10913G>A p.R3638Q Missense 26/29 - 15
2-21228850-C-A c.10890G>T p.K3630N Missense 26/29 - 1
2-21228921-G-T c.10819C>A p.P3607T Missense 26/29 - 1
2-21228932-T-C c.10808A>G p.H3603R Missense 26/29 - 1
2-21228960-A-C c.10780T>G p.W3594G Missense 26/29 - 1
2-21228960-A-G c.10780T>C p.W3594R Missense 26/29 - 2
2-21228960-A-T c.10780T>A p.W3594R Missense 26/29 - 1
2-21228996-C-T c.10744G>A p.E3582K Missense 26/29 - 1
2-21229000-G-A c.10740C>T p.N3580= Synonymous 26/29 - 1
2-21229000-G-C c.10740C>G p.N3580K Missense 26/29 - 1
2-21229001-T-C c.10739A>G p.N3580S Missense 26/29 - 2
2-21229032-G-A c.10708C>T p.H3570Y Missense 26/29 - 2
2-21229033-G-A c.10707C>T p.N3569= Synonymous 26/29 - 1
2-21229040-G-A c.10700C>T p.T3567M Missense 26/29 - 1
2-21229061-T-C c.10679A>G p.Y3560C Missense 26/29 - 1
2-21229066-G-A c.10674C>T p.R3558= Synonymous 26/29 - 1
2-21229066-G-C c.10674C>G p.R3558= Synonymous 26/29 - 1
2-21229066-G-T c.10674C>A p.R3558= Synonymous 26/29 - 1
2-21229068-G-A c.10672C>T p.R3558C Missense 26/29 - 11
2-21229107-C-A c.10633G>T p.E3545* Nonsense 26/29 - 1
2-21229160-C-A c.10580G>T p.R3527L Missense 26/29 - 14
2-21229160-CG-TC c.10579_10580delinsGA p.R3527E Missense 26/29 - 2
2-21229160-C-T c.10580G>A p.R3527Q Missense 26/29 - 120
2-21229161-G-A c.10579C>T p.R3527W Missense 26/29 - 36
2-21229188-T-C c.10552A>G p.N3518D Missense 26/29 - 1
2-21229188-T-G c.10552A>C p.N3518H Missense 26/29 - 1
2-21229191-C-T c.10549G>A p.A3517T Missense 26/29 - 2
2-21229220-C-G c.10520G>C p.R3507P Missense 26/29 - 1
2-21229221-G-A c.10519C>T p.R3507W Missense 26/29 - 4
2-21229277-GA-CC c.10462_10463delinsGG p.S3488G Missense 26/29 - 1
2-21229280-G-T c.10460C>A p.T3487N Missense 26/29 - 1
2-21229286-C-T c.10454G>A p.S3485N Missense 26/29 - 1
2-21229302-T-C c.10438A>G p.K3480E Missense 26/29 - 1
2-21229313-G-T c.10427C>A p.A3476E Missense 26/29 - 1
2-21229353-C-A c.10387G>T p.D3463Y Missense 26/29 - 1
2-21229355-T-C c.10385A>G p.Y3462C Missense 26/29 - 1
2-21229367-CA-C c.10373del p.M3458Rfs*64 Frameshift 26/29 - 1
2-21229446-G-C c.10294C>G p.Q3432E Missense 26/29 - 6
2-21229463-G-A c.10277C>T p.A3426V Missense 26/29 - 1
2-21229502-AG-A c.10238del p.T3413Mfs*2 Frameshift 26/29 - 1
2-21229554-C-T c.10186G>A p.A3396T Missense 26/29 - 5
2-21229558-C-A c.10182G>T p.K3394N Missense 26/29 - 2
2-21229558-C-G c.10182G>C p.K3394N Missense 26/29 - 1
2-21229577-G-T c.10163C>A p.T3388K Missense 26/29 - 1
2-21229596-C-G c.10144G>C p.E3382Q Missense 26/29 - 1
2-21229606-AC-A c.10134del p.Q3378Hfs*4 Frameshift 26/29 - 1
2-21229609-C-T c.10131G>A p.L3377= Synonymous 26/29 - 1
2-21229629-A-C c.10111T>G p.S3371A Missense 26/29 - 1
2-21229647-G-C c.10093C>G p.H3365D Missense 26/29 - 1
2-21229686-T-G c.10054A>C p.T3352P Missense 26/29 - 1
2-21229703-C-A c.10037G>T p.S3346I Missense 26/29 - 1
2-21229730-A-G c.10010T>C p.I3337T Missense 26/29 - 1
2-21229745-G-A c.9995C>T p.P3332L Missense 26/29 - 1
2-21229761-T-TA c.9978_9979insT p.S3327* Nonsense 26/29 - 1
2-21229776-C-T c.9964G>A p.E3322K Missense 26/29 - 1
2-21229803-G-T c.9937C>A p.L3313I Missense 26/29 - 1
2-21229857-A-G c.9883T>C p.Y3295H Missense 26/29 - 1
2-21229860-A-G c.9880T>C p.S3294P Missense 26/29 - 3
2-21229869-G-A c.9871C>T p.R3291C Missense 26/29 - 1
2-21229872-C-T c.9868G>A p.V3290I Missense 26/29 - 1
2-21229905-T-C c.9835A>G p.S3279G Missense 26/29 - 4
2-21229947-T-C c.9793A>G p.I3265V Missense 26/29 - 1
2-21229985-G-GT c.9754dup p.T3252Nfs*8 Frameshift 26/29 - 1
2-21230022-C-T c.9718G>A p.D3240N Missense 26/29 - 1
2-21230046-T-C c.9694A>G p.K3232E Missense 26/29 - 1
2-21230132-G-T c.9608C>A p.S3203Y Missense 26/29 - 1
2-21230191-C-A c.9549G>T p.R3183S Missense 26/29 - 1
2-21230191-C-G c.9549G>C p.R3183S Missense 26/29 - 1
2-21230258-A-G c.9482T>C p.F3161S Missense 26/29 - 1
2-21230264-T-A c.9476A>T p.K3159M Missense 26/29 - 1
2-21230273-G-GT c.9466dup p.T3156Nfs*15 Frameshift 26/29 - 1
2-21230282-C-A c.9458G>T p.W3153L Missense 26/29 - 1
2-21230291-A-G c.9449T>C p.F3150S Missense 26/29 - 1
2-21230292-A-G c.9448T>C p.F3150L Missense 26/29 - 1
2-21230293-A-C c.9447T>G p.D3149E Missense 26/29 - 1
2-21230293-A-T c.9447T>A p.D3149E Missense 26/29 - 1
2-21230314-G-C c.9426C>G p.I3142M Missense 26/29 - 1
2-21230334-G-A c.9406C>T p.R3136C Missense 26/29 - 1
2-21230419-G-C c.9321C>G p.N3107K Missense 26/29 - 1
2-21230480-C-T c.9260G>A p.W3087* Nonsense 26/29 - 2
2-21230498-C-T c.9242G>A p.S3081N Missense 26/29 - 1
2-21230514-G-T c.9226C>A p.L3076M Missense 26/29 - 1
2-21230539-C-G c.9201G>C p.K3067N Missense 26/29 - 1
2-21230558-G-A c.9182C>T p.P3061L Missense 26/29 - 1
2-21230565-G-A c.9175C>T p.R3059C Missense 26/29 - 4
2-21230620-TGAAAA-T c.9115_9119del p.F3039Sfs*5 Frameshift 26/29 - 1
2-21230661-C-G c.9079G>C p.G3027R Missense 26/29 - 1
2-21230661-C-T c.9079G>A p.G3027R Missense 26/29 - 1
2-21230775-G-A c.8965C>T p.Q2989* Nonsense 26/29 - 1
2-21230827-G-A c.8913C>T p.N2971= Synonymous 26/29 - 1
2-21230849-T-C c.8891A>G p.N2964S Missense 26/29 - 1
2-21230858-T-C c.8882A>G p.N2961S Missense 26/29 - 1
2-21230863-C-T c.8877G>A p.L2959= Synonymous 26/29 - 1
2-21230891-A-G c.8849T>C p.I2950T Missense 26/29 - 2
2-21230925-C-T c.8815G>A p.E2939K Missense 26/29 - 1
2-21231228-C-T c.8512G>A p.E2838K Missense 26/29 - 1
2-21231265-C-T c.8475G>A p.K2825= Synonymous 26/29 - 1
2-21231357-C-A c.8383G>T p.A2795S Missense 26/29 - 2
2-21231372-C-T c.8368G>A p.A2790T Missense 26/29 - 1
2-21231387-T-G c.8353A>C p.N2785H Missense 26/29 - 7
2-21231524-G-A c.8216C>T p.P2739L Missense 26/29 - 60
2-21231524-G-C c.8216C>G p.P2739R Missense 26/29 - 1
2-21231524-G-T c.8216C>A p.P2739Q Missense 26/29 - 41
2-21231527-A-T c.8213T>A p.I2738K Missense 26/29 - 1
2-21231559-G-C c.8181C>G p.N2727K Missense 26/29 - 1
2-21231559-G-T c.8181C>A p.N2727K Missense 26/29 - 1
2-21231592-G-A c.8148C>T p.I2716= Synonymous 26/29 - 2
2-21231602-A-G c.8138T>C p.L2713S Missense 26/29 - 1
2-21231606-G-A c.8134C>T p.R2712C Missense 26/29 - 1
2-21231628-C-T c.8112G>A p.A2704= Synonymous 26/29 - 1
2-21231683-C-A c.8057G>T p.W2686L Missense 26/29 - 1
2-21231803-G-A c.7937C>T p.S2646F Missense 26/29 - 1
2-21231873-C-T c.7867G>A p.D2623N Missense 26/29 - 1
2-21231888-T-C c.7852A>G p.I2618V Missense 26/29 - 1
2-21232013-C-G c.7727G>C p.R2576P Missense 26/29 - 1
2-21232016-T-A c.7724A>T p.K2575I Missense 26/29 - 1
2-21232044-C-T c.7696G>A p.E2566K Missense 26/29 - 6
2-21232121-C-A c.7619G>T p.G2540V Missense 26/29 - 1
2-21232125-C-T c.7615G>A p.V2539I Missense 26/29 - 1
2-21232128-G-A c.7612C>T p.L2538= Synonymous 26/29 - 2
2-21232143-G-A c.7597C>T p.Q2533* Nonsense 26/29 - 1
2-21232175-C-T c.7565G>A p.R2522Q Missense 26/29 - 1
2-21232195-G-A c.7545C>T p.T2515= Synonymous 26/29 - 131
2-21232195-G-C c.7545C>G p.T2515= Synonymous 26/29 - 6
2-21232195-G-T c.7545C>A p.T2515= Synonymous 26/29 - 6
2-21232202-C-T c.7538G>A p.R2513Q Missense 26/29 - 1
2-21232203-G-A c.7537C>T p.R2513* Nonsense 26/29 - 4
2-21232203-G-C c.7537C>G p.R2513G Missense 26/29 - 1
2-21232256-C-A c.7484G>T p.W2495L Missense 26/29 - 1
2-21232258-A-C c.7482T>G p.N2494K Missense 26/29 - 1
2-21232268-A-C c.7472T>G p.L2491* Nonsense 26/29 - 1
2-21232341-T-A c.7399A>T p.K2467* Nonsense 26/29 - 1
2-21232354-T-A c.7386A>T p.K2462N Missense 26/29 - 1
2-21232373-G-T c.7367C>A p.A2456D Missense 26/29 - 1
2-21232440-G-A c.7300C>T p.Q2434* Nonsense 26/29 - 1
2-21232455-A-T c.7285T>A p.S2429T Missense 26/29 - 1
2-21232498-T-A c.7242A>T p.E2414D Missense 26/29 - 1
2-21232498-T-G c.7242A>C p.E2414D Missense 26/29 - 1
2-21232530-G-T c.7210C>A p.L2404I Missense 26/29 - 1
2-21232567-C-A c.7173G>T p.E2391D Missense 26/29 - 1
2-21232567-C-G c.7173G>C p.E2391D Missense 26/29 - 1
2-21232579-T-A c.7161A>T p.K2387N Missense 26/29 - 1
2-21232579-T-G c.7161A>C p.K2387N Missense 26/29 - 1
2-21232606-G-T c.7134C>A p.S2378R Missense 26/29 - 1
2-21232611-G-C c.7129C>G p.L2377V Missense 26/29 - 1
2-21232622-G-T c.7118C>A p.T2373N Missense 26/29 - 1
2-21232634-T-A c.7106A>T p.K2369M Missense 26/29 - 1
2-21232683-G-A c.7057C>T p.Q2353* Nonsense 26/29 - 2
2-21232751-A-T c.6989T>A p.V2330E Missense 26/29 - 1
2-21232803-T-A c.6937A>T p.I2313F Missense 26/29 - 2
2-21232803-T-C c.6937A>G p.I2313V Missense 26/29 - 2
2-21232804-G-A c.6936C>T p.D2312= Synonymous 26/29 - 2
2-21232845-C-G c.6895G>C p.D2299H Missense 26/29 - 1
2-21232865-A-G c.6875T>C p.I2292T Missense 26/29 - 1
2-21232871-T-G c.6869A>C p.E2290A Missense 26/29 - 1
2-21232892-C-A c.6848G>T p.G2283V Missense 26/29 - 1
2-21233006-G-C c.6734C>G p.T2245S Missense 26/29 - 1
2-21233022-T-A c.6718A>T p.K2240* Nonsense 26/29 - 4
2-21233091-G-A c.6649C>T p.H2217Y Missense 26/29 - 1
2-21233098-CTCA-C c.6639_6641del p.D2213del InFrameDeletion 26/29 - 3
2-21233103-C-T c.6637G>A p.D2213N Missense 26/29 - 1
2-21233172-C-T c.6568G>A p.D2190N Missense 26/29 - 1
2-21233196-CA-C c.6543del p.F2181Lfs*14 Frameshift 26/29 - 1
2-21233202-G-A c.6538C>T p.Q2180* Nonsense 26/29 - 1
2-21233223-G-A c.6517C>T p.Q2173* Nonsense 26/29 - 1
2-21233305-TGAGAGCAG-T c.6428_6435del p.T2143Nfs*5 Frameshift 26/29 - 1
2-21233333-G-A c.6407C>T p.S2136L Missense 26/29 - 1
2-21233395-C-T c.6345G>A p.L2115= Synonymous 26/29 - 1
2-21233402-G-T c.6338C>A p.A2113E Missense 26/29 - 1
2-21233412-T-TA c.6327_6328insT p.K2110* Nonsense 26/29 - 1
2-21233456-A-T c.6284T>A p.V2095E Missense 26/29 - 2
2-21233487-G-A c.6253C>T p.R2085* Nonsense 26/29 - 1
2-21233500-A-T c.6240T>A p.Y2080* Nonsense 26/29 - 1
2-21233546-T-C c.6194A>G p.D2065G Missense 26/29 - 2
2-21233614-C-A c.6126G>T p.M2042I Missense 26/29 - 1
2-21233666-T-G c.6074A>C p.K2025T Missense 26/29 - 1
2-21233685-G-T c.6055C>A p.L2019I Missense 26/29 - 1
2-21233835-T-G c.5905A>C p.S1969R Missense 26/29 - 1
2-21233847-C-G c.5893G>C p.E1965Q Missense 26/29 - 1
2-21233877-C-A c.5863G>T p.V1955L Missense 26/29 - 1
2-21233877-C-T c.5863G>A p.V1955M Missense 26/29 - 1
2-21233902-G-C c.5838C>G p.Y1946* Nonsense 26/29 - 1
2-21233902-G-T c.5838C>A p.Y1946* Nonsense 26/29 - 1
2-21233918-G-A c.5822C>T p.T1941I Missense 26/29 - 1
2-21233972-T-C c.5768A>G p.H1923R Missense 26/29 - 8
2-21233973-G-C c.5767C>G p.H1923D Missense 26/29 - 1
2-21233999-T-C c.5741A>G p.N1914S Missense 26/29 - 3
2-21234051-G-T c.5689C>A p.R1897S Missense 26/29 - 1
2-21234079-TG-AC c.5660_5661delinsGT p.S1887C Missense 26/29 - 1
2-21234086-T-C c.5654A>G p.Y1885C Missense 26/29 - 1
2-21234123-C-T c.5617G>A p.A1873T Missense 26/29 - 1
2-21234125-A-T c.5615T>A p.I1872N Missense 26/29 - 1
2-21234129-C-T c.5611G>A p.D1871N Missense 26/29 - 1
2-21234141-G-A c.5599C>T p.R1867W Missense 26/29 - 1
2-21234160-C-A c.5580G>T p.Q1860H Missense 26/29 - 1
2-21234174-C-A c.5566G>T p.V1856F Missense 26/29 - 1
2-21234218-G-A c.5522C>T p.A1841V Missense 26/29 - 1
2-21234286-G-A c.5454C>T p.P1818= Synonymous 26/29 - 1
2-21234286-G-C c.5454C>G p.P1818= Synonymous 26/29 - 1
2-21234286-G-T c.5454C>A p.P1818= Synonymous 26/29 - 1
2-21234303-T-A c.5437A>T p.K1813* Nonsense 26/29 - 1
2-21234330-T-C c.5410A>G p.N1804D Missense 26/29 - 1
2-21234373-C-T c.5367G>A p.Q1789= Synonymous 26/29 - 1
2-21234396-G-A c.5344C>T p.Q1782* Nonsense 26/29 - 1
2-21234576-C-G c.5164G>C p.D1722H Missense 26/29 - 1
2-21234581-C-G c.5159G>C p.G1720A Missense 26/29 - 1
2-21234637-C-A c.5103G>T p.G1701= Synonymous 26/29 - 1
2-21234642-C-T c.5098G>A p.D1700N Missense 26/29 - 1
2-21234674-C-T c.5066G>A p.R1689H Missense 26/29 - 3
2-21234774-C-T c.4966G>A p.A1656T Missense 26/29 - 1
2-21234779-GTAGATATTCCA-G c.4950_4960del p.G1651Qfs*9 Frameshift 26/29 - 1
2-21234802-C-A c.4938G>T p.R1646S Missense 26/29 - 1
2-21234802-C-G c.4938G>C p.R1646S Missense 26/29 - 1
2-21234810-T-A c.4930A>T p.T1644S Missense 26/29 - 1
2-21234858-C-A c.4882G>T p.A1628S Missense 26/29 - 1
2-21234890-C-T c.4850G>A p.G1617E Missense 26/29 - 1
2-21234902-C-G c.4838G>C p.S1613T Missense 26/29 - 2
2-21234915-A-G c.4825T>C p.L1609= Synonymous 26/29 - 1
2-21235031-A-G c.4709T>C p.L1570S Missense 26/29 - 1
2-21235038-G-T c.4702C>A p.L1568M Missense 26/29 - 1
2-21235044-A-G c.4696T>C p.Y1566H Missense 26/29 - 1
2-21235089-G-A c.4651C>T p.Q1551* Nonsense 26/29 - 1
2-21235172-T-A c.4568A>T p.N1523I Missense 26/29 - 1
2-21235237-A-C c.4503T>G p.Y1501* Nonsense 26/29 - 1
2-21235259-G-A c.4481C>T p.S1494L Missense 26/29 - 1
2-21235365-T-C c.4375A>G p.S1459G Missense 26/29 - 1
2-21235375-G-A c.4365C>T p.F1455= Synonymous 26/29 - 1
2-21235375-G-C c.4365C>G p.F1455L Missense 26/29 - 1
2-21235389-C-A c.4351G>T p.G1451C Missense 26/29 - 1
2-21235442-G-A c.4298C>T p.S1433L Missense 26/29 - 1
2-21235460-C-T c.4280G>A p.R1427H Missense 26/29 - 1
2-21235475-T-A c.4265A>T p.C1422F Missense 26/29 - 3
2-21235475-T-C c.4265A>G p.C1422C Missense 26/29 - 3
2-21235475-T-G c.4265A>C p.C1422S Missense 26/29 - 3
2-21236030-A-G c.4216+2T>C - IntronicSNV - 25/28 1
2-21236070-G-A c.4178C>T p.A1393V Missense 25/29 - 1
2-21236085-C-T c.4163G>A p.R1388H Missense 25/29 - 4
2-21236086-G-A c.4162C>T p.R1388C Missense 25/29 - 1
2-21236157-C-G c.4091G>C p.S1364T Missense 25/29 - 1
2-21236221-G-A c.4027C>T p.P1343S Missense 25/29 - 2
2-21236238-A-G c.4010T>C p.V1337A Missense 25/29 - 1
2-21236251-G-A c.3997C>T p.R1333* Nonsense 25/29 - 2
2-21236251-G-C c.3997C>G p.R1333G Missense 25/29 - 1
2-21236269-C-G c.3979G>C p.G1327R Missense 25/29 - 1
2-21236269-C-T c.3979G>A p.G1327R Missense 25/29 - 1
2-21236324-T-C c.3924A>G p.R1308= Synonymous 25/29 - 1
2-21236326-T-G c.3922A>C p.R1308= Synonymous 25/29 - 1
2-21236350-A-T c.3898T>A p.L1300M Missense 25/29 - 1
2-21237238-A-T c.3842+82T>A - IntronicSNV - 24/28 1
2-21237413-G-T c.3749C>A p.T1250N Missense 24/29 - 1
2-21237421-A-T c.3741T>A p.Y1247* Nonsense 24/29 - 1
2-21237438-A-T c.3724T>A p.S1242T Missense 24/29 - 1
2-21237544-G-A c.3697-79C>T - IntronicSNV - 23/28 39
2-21237544-G-T c.3697-79C>A - IntronicSNV - 23/28 39
2-21237786-T-A c.3696+159A>T - IntronicSNV - 23/28 4
2-21237786-T-G c.3696+159A>C - IntronicSNV - 23/28 4
2-21237944-C-A c.3696+1G>T - IntronicSNV - 23/28 1
2-21237944-C-G c.3696+1G>C - IntronicSNV - 23/28 2
2-21238007-G-T c.3634C>A p.L1212M Missense 23/29 - 3
2-21238012-C-T c.3629G>A p.R1210K Missense 23/29 - 1
2-21238041-A-C c.3600T>G p.Y1200* Nonsense 23/29 - 1
2-21238041-A-T c.3600T>A p.Y1200* Nonsense 23/29 - 1
2-21238094-T-A c.3547A>T p.N1183Y Missense 23/29 - 1
2-21238110-T-A c.3531A>T p.E1177D Missense 23/29 - 1
2-21238110-T-G c.3531A>C p.E1177D Missense 23/29 - 1
2-21238116-T-A c.3525A>T p.E1175D Missense 23/29 - 1
2-21238116-T-G c.3525A>C p.E1175D Missense 23/29 - 1
2-21238117-T-G c.3524A>C p.E1175A Missense 23/29 - 1
2-21238122-C-T c.3519G>A p.K1173= Synonymous 23/29 - 1
2-21238252-TGC-ACA c.3496_3498delinsTGT p.A1166C Missense 22/29 - 6
2-21238259-C-G c.3491G>C p.R1164T Missense 22/29 - 10
2-21238259-C-T c.3491G>A p.R1164K Missense 22/29 - 1
2-21238298-T-C c.3452A>G p.D1151G Missense 22/29 - 1
2-21238323-G-A c.3427C>T p.P1143S Missense 22/29 - 2
2-21238346-C-A c.3404G>T p.S1135I Missense 22/29 - 1
2-21238346-C-T c.3404G>A p.S1135N Missense 22/29 - 1
2-21238367-C-T c.3383G>A p.R1128H Missense 22/29 - 2
2-21238413-C-G c.3337G>C p.D1113H Missense 22/29 - 4
2-21239339-T-C c.3304A>G p.T1102A Missense 21/29 - 1
2-21239352-C-T c.3291G>A p.Q1097= Synonymous 21/29 - 1
2-21239364-G-C c.3279C>G p.T1093= Synonymous 21/29 - 1
2-21239404-T-C c.3239A>G p.N1080S Missense 21/29 - 1
2-21239417-T-G c.3226A>C p.I1076L Missense 21/29 - 1
2-21239443-G-A c.3200C>T p.P1067L Missense 21/29 - 1
2-21239477-G-A c.3166C>T p.Q1056* Nonsense 21/29 - 1
2-21239479-C-T c.3164G>A p.R1055Q Missense 21/29 - 3
2-21239508-CAGTCT-C c.3131_3135del p.Q1044Rfs*9 Frameshift 21/29 - 1
2-21239861-A-AAAG c.3122-341_3122-340insCTT - IntronicInsertion - 20/28 1
2-21241505-A-G c.3121+359T>C - IntronicSNV - 20/28 3
2-21241744-C-T c.3121+120G>A - IntronicSNV - 20/28 1
2-21241966-G-C c.3019C>G p.P1007A Missense 20/29 - 1
2-21242527-G-T c.2999+68C>A - IntronicSNV - 19/28 1
2-21242595-CT-GC c.2998_2999delinsGC p.R1000A Missense 19/29 - 1
2-21242599-TGTCCCCG-T c.2988_2994del p.G997Pfs*3 Frameshift 19/29 - 1
2-21242613-G-A c.2981C>T p.P994L Missense 19/29 - 3
2-21242657-G-A c.2937C>T p.G979= Synonymous 19/29 - 1
2-21242679-C-G c.2915G>C p.G972A Missense 19/29 - 1
2-21242678-GC-G c.2915del p.G972Afs*2 Frameshift 19/29 - 1
2-21242680-C-G c.2914G>C p.G972R Missense 19/29 - 4
2-21242680-C-T c.2914G>A p.G972S Missense 19/29 - 2
2-21242731-G-A c.2863C>T p.P955S Missense 19/29 - 4
2-21242731-G-C c.2863C>G p.P955A Missense 19/29 - 2
2-21242731-G-T c.2863C>A p.P955T Missense 19/29 - 2
2-21243306-C-T c.2817-529G>A - IntronicSNV - 18/28 1
2-21244000-G-T c.2817-1223C>A - IntronicSNV - 18/28 5
2-21244358-T-G c.2816+1345A>C - IntronicSNV - 18/28 2
2-21245329-G-T c.2816+374C>A - IntronicSNV - 18/28 3
2-21245367-A-G c.2816+336T>C - IntronicSNV - 18/28 7
2-21245703-C-T c.2816G>A p.G939D Missense 18/29 - 2
2-21245706-C-G c.2813G>C p.G938A Missense 18/29 - 1
2-21245741-A-C c.2778T>G p.I926M Missense 18/29 - 1
2-21245813-G-A c.2706C>T p.N902= Synonymous 18/29 - 1
2-21245825-C-A c.2694G>T p.G898= Synonymous 18/29 - 1
2-21245863-T-G c.2656A>C p.N886H Missense 18/29 - 1
2-21245868-A-C c.2651T>G p.V884G Missense 18/29 - 1
2-21245889-G-A c.2630C>T p.P877L Missense 18/29 - 3
2-21245890-G-C c.2629C>G p.P877A Missense 18/29 - 1
2-21246367-CT-C c.2604+30del - IntronicDeletion - 17/28 1
2-21246401-G-A c.2600C>T p.A867V Missense 17/29 - 1
2-21246410-A-G c.2591T>C p.L864P Missense 17/29 - 1
2-21246416-A-G c.2585T>C p.V862A Missense 17/29 - 1
2-21246424-C-G c.2577G>C p.K859N Missense 17/29 - 1
2-21246432-C-T c.2569G>A p.G857R Missense 17/29 - 1
2-21246467-CT-C c.2534del p.Q845Rfs*18 Frameshift 17/29 - 1
2-21246473-C-A c.2528G>T p.G843V Missense 17/29 - 1
2-21246504-C-T c.2497G>A p.E833K Missense 17/29 - 1
2-21246515-T-C c.2486A>G p.Y829C Missense 17/29 - 1
2-21246531-C-T c.2470G>A p.D824N Missense 17/29 - 1
2-21247065-T-A c.2437-501A>T - IntronicSNV - 16/28 1
2-21247211-C-T c.2436+594G>A - IntronicSNV - 16/28 2
2-21247808-C-T c.2433G>A p.Q811= Synonymous 16/29 - 1
2-21247831-G-A c.2410C>T p.R804C Missense 16/29 - 1
2-21247834-C-T c.2407G>A p.A803T Missense 16/29 - 1
2-21247843-G-T c.2398C>A p.L800M Missense 16/29 - 1
2-21247848-CA-C c.2393del p.L798Rfs*3 Frameshift 16/29 - 1
2-21247854-C-T c.2387G>A p.G796E Missense 16/29 - 1
2-21247894-C-T c.2347G>A p.E783K Missense 16/29 - 1
2-21247908-C-A c.2333G>T p.R778L Missense 16/29 - 1
2-21247920-C-G c.2321G>C p.R774T Missense 16/29 - 1
2-21247937-T-A c.2304A>T p.K768N Missense 16/29 - 1
2-21247937-T-G c.2304A>C p.K768N Missense 16/29 - 1
2-21247946-C-G c.2295G>C p.L765F Missense 16/29 - 1
2-21247961-C-A c.2280G>T p.K760N Missense 16/29 - 1
2-21247961-C-G c.2280G>C p.K760N Missense 16/29 - 1
2-21247971-C-A c.2270G>T p.S757I Missense 16/29 - 1
2-21247978-T-A c.2263A>T p.M755L Missense 16/29 - 1
2-21247978-T-G c.2263A>C p.M755L Missense 16/29 - 1
2-21247983-C-G c.2258G>C p.G753A Missense 16/29 - 1
2-21247983-C-T c.2258G>A p.G753E Missense 16/29 - 1
2-21247996-C-A c.2245G>T p.D749Y Missense 16/29 - 1
2-21249681-G-A c.2223C>T p.T741= Synonymous 15/29 - 1
2-21249681-G-C c.2223C>G p.T741= Synonymous 15/29 - 1
2-21249681-G-T c.2223C>A p.T741= Synonymous 15/29 - 1
2-21249697-T-C c.2207A>G p.D736G Missense 15/29 - 1
2-21249716-C-T c.2188G>A p.V730I Missense 15/29 - 7
2-21249728-C-T c.2176G>A p.V726I Missense 15/29 - 1
2-21249731-G-T c.2173C>A p.Q725K Missense 15/29 - 1
2-21249735-CA-C c.2169del p.N723Kfs*12 Frameshift 15/29 - 1
2-21249759-GAC-TTA c.2143_2145delinsTAA p.V715* Nonsense 15/29 - 1
2-21249761-C-T c.2143G>A p.V715I Missense 15/29 - 1
2-21249767-C-T c.2137G>A p.D713N Missense 15/29 - 1
2-21249840-A-T c.2068-4T>A - IntronicSNV - 14/28 1
2-21250223-G-A c.2068-387C>T - IntronicSNV - 14/28 1
2-21250223-G-C c.2068-387C>G - IntronicSNV - 14/28 1
2-21250223-G-T c.2068-387C>A - IntronicSNV - 14/28 1
2-21250699-C-T c.2067+1G>A - IntronicSNV - 14/28 1
2-21250711-C-A c.2056G>T p.D686Y Missense 14/29 - 1
2-21250725-C-G c.2042G>C p.G681A Missense 14/29 - 1
2-21250758-T-C c.2009A>G p.E670G Missense 14/29 - 14
2-21250759-C-T c.2008G>A p.E670K Missense 14/29 - 1
2-21250760-T-A c.2007A>T p.K669N Missense 14/29 - 1
2-21250760-T-G c.2007A>C p.K669N Missense 14/29 - 1
2-21250769-G-T c.1998C>A p.Y666* Nonsense 14/29 - 1
2-21250804-T-C c.1963A>G p.I655V Missense 14/29 - 1
2-21250808-G-A c.1959C>T p.A653= Synonymous 14/29 - 2
2-21250830-G-A c.1937C>T p.P646L Missense 14/29 - 1
2-21250831-G-T c.1936C>A p.P646T Missense 14/29 - 1
2-21250863-C-T c.1904G>A p.R635Q Missense 14/29 - 1
2-21250873-T-G c.1894A>C p.K632Q Missense 14/29 - 1
2-21250914-G-A c.1853C>T p.A618V Missense 14/29 - 31
2-21251040-T-G c.1830-103A>C - IntronicSNV - 13/28 2
2-21251204-G-A c.1824C>T p.I608= Synonymous 13/29 - 1
2-21251250-A-C c.1778T>G p.V593G Missense 13/29 - 1
2-21251255-G-A c.1773C>T p.N591= Synonymous 13/29 - 2
2-21251274-T-G c.1754A>C p.Q585P Missense 13/29 - 1
2-21251279-C-A c.1749G>T p.W583C Missense 13/29 - 1
2-21251287-G-A c.1741C>T p.L581= Synonymous 13/29 - 1
2-21251342-GA-G c.1686del p.M564Cfs*2 Frameshift 13/29 - 1
2-21251346-GC-CA c.1681_1682delinsTG p.A561C Missense 13/29 - 1
2-21251351-CAG-AAA c.1675_1677delinsTTT p.L559F Missense 13/29 - 1
2-21251355-C-T c.1673G>A p.R558Q Missense 13/29 - 1
2-21251356-G-A c.1672C>T p.R558* Nonsense 13/29 - 1
2-21251359-T-A c.1669A>T p.K557* Nonsense 13/29 - 1
2-21251367-G-A c.1661C>T p.P554L Missense 13/29 - 1
2-21251367-G-C c.1661C>G p.P554R Missense 13/29 - 1
2-21251380-C-G c.1648G>C p.D550H Missense 13/29 - 2
2-21251384-G-A c.1644C>T p.F548= Synonymous 13/29 - 1
2-21251398-G-T c.1630C>A p.L544I Missense 13/29 - 1
2-21251407-G-A c.1621C>T p.Q541* Nonsense 13/29 - 1
2-21252533-C-T c.1595G>A p.R532Q Missense 12/29 - 1
2-21252534-G-A c.1594C>T p.R532W Missense 12/29 - 15
2-21252565-C-A c.1563G>T p.L521= Synonymous 12/29 - 1
2-21252565-C-G c.1563G>C p.L521= Synonymous 12/29 - 1
2-21252565-C-T c.1563G>A p.L521= Synonymous 12/29 - 1
2-21252567-G-A c.1561C>T p.L521= Synonymous 12/29 - 1
2-21252574-C-A c.1554G>T p.K518N Missense 12/29 - 1
2-21252574-C-G c.1554G>C p.K518N Missense 12/29 - 1
2-21252574-C-T c.1554G>A p.K518= Synonymous 12/29 - 1
2-21252596-A-C c.1532T>G p.L511R Missense 12/29 - 1
2-21252596-AG-GA c.1531_1532delinsTC p.L511S Missense 12/29 - 1
2-21252633-T-C c.1495A>G p.M499V Missense 12/29 - 1
2-21252635-G-T c.1493C>A p.T498N Missense 12/29 - 1
2-21252772-G-A c.1468C>T p.R490W Missense 11/29 - 4
2-21252807-C-T c.1433G>A p.C478Y Missense 11/29 - 1
2-21252820-T-C c.1420A>G p.I474V Missense 11/29 - 7
2-21252823-G-GT c.1416dup p.Q473Tfs*5 Frameshift 11/29 - 1
2-21252840-G-C c.1400C>G p.A467G Missense 11/29 - 1
2-21252852-A-G c.1388T>C p.L463P Missense 11/29 - 1
2-21252871-G-A c.1369C>T p.P457S Missense 11/29 - 1
2-21255166-G-T c.1352+60C>A - IntronicSNV - 10/28 1
2-21255227-T-G c.1351A>C p.N451H Missense 10/29 - 1
2-21255236-C-T c.1342G>A p.A448T Missense 10/29 - 1
2-21255247-G-A c.1331C>T p.A444V Missense 10/29 - 1
2-21255251-A-G c.1327T>C p.Y443H Missense 10/29 - 2
2-21255251-A-T c.1327T>A p.Y443N Missense 10/29 - 1
2-21255263-G-A c.1315C>T p.R439* Nonsense 10/29 - 4
2-21255269-G-A c.1309C>T p.R437C Missense 10/29 - 1
2-21255275-C-T c.1303G>A p.D435N Missense 10/29 - 1
2-21255280-G-A c.1298C>T p.A433V Missense 10/29 - 1
2-21255281-C-T c.1297G>A p.A433T Missense 10/29 - 1
2-21255285-G-C c.1293C>G p.N431K Missense 10/29 - 1
2-21255290-A-C c.1288T>G p.F430V Missense 10/29 - 1
2-21255301-A-G c.1277T>C p.L426P Missense 10/29 - 1
2-21255305-G-C c.1273C>G p.Q425E Missense 10/29 - 1
2-21255321-G-A c.1257C>T p.P419= Synonymous 10/29 - 1
2-21255355-A-G c.1223T>C p.I408T Missense 10/29 - 4
2-21255379-C-T c.1199G>A p.R400H Missense 10/29 - 1
2-21255389-A-C c.1189T>G p.W397G Missense 10/29 - 1
2-21255395-G-A c.1183C>T p.L395F Missense 10/29 - 1
2-21255398-T-C c.1180A>G p.I394V Missense 10/29 - 1
2-21255413-G-A c.1165C>T p.Q389* Nonsense 10/29 - 1
2-21255427-T-C c.1151A>G p.Q384R Missense 10/29 - 1
2-21255428-G-A c.1150C>T p.Q384* Nonsense 10/29 - 1
2-21255430-AACCAAG-A c.1143_1148del p.L382_V383del InFrameDeletion 10/29 - 1
2-21255438-T-A c.1140A>T p.Q380H Missense 10/29 - 1
2-21255438-T-G c.1140A>C p.Q380H Missense 10/29 - 1
2-21255447-G-A c.1131C>T p.I377= Synonymous 10/29 - 1
2-21255447-G-T c.1131C>A p.I377= Synonymous 10/29 - 1
2-21256187-G-C c.1108C>G p.L370V Missense 9/29 - 1
2-21256203-TG-CA c.1091_1092inv p.T364M Missense 9/29 - 1
2-21256225-C-T c.1070G>A p.G357D Missense 9/29 - 1
2-21256229-T-G c.1066A>C p.R356= Synonymous 9/29 - 1
2-21256230-C-CA c.1064dup p.R356Efs*5 Frameshift 9/29 - 1
2-21256236-A-G c.1059T>C p.T353= Synonymous 9/29 - 1
2-21256243-A-C c.1052T>G p.L351R Missense 9/29 - 1
2-21256244-G-T c.1051C>A p.L351M Missense 9/29 - 3
2-21256263-TC-CA c.1031_1032delinsTG p.R344M Missense 9/29 - 1
2-21256282-AG-A c.1013del p.S338Lfs*18 Frameshift 9/29 - 1
2-21256294-T-C c.1001A>G p.K334R Missense 9/29 - 1
2-21256298-T-C c.997A>G p.K333E Missense 9/29 - 1
2-21256318-AA-GG c.976_977delinsCC p.L326P Missense 9/29 - 1
2-21256365-AAA-CTT c.928_930delinsAAG p.F310K Missense 9/29 - 3
2-21257684-T-C c.904+4A>G - IntronicSNV - 8/28 1
2-21257688-C-T c.904G>A p.G302S Missense 8/29 - 2
2-21257697-A-C c.895T>G p.F299V Missense 8/29 - 2
2-21257717-G-C c.875C>G p.P292R Missense 8/29 - 1
2-21257725-T-A c.867A>T p.E289D Missense 8/29 - 1
2-21257725-T-G c.867A>C p.E289D Missense 8/29 - 1
2-21257727-C-T c.865G>A p.E289K Missense 8/29 - 1
2-21257756-A-T c.836T>A p.V279E Missense 8/29 - 1
2-21257758-C-A c.834G>T p.M278I Missense 8/29 - 1
2-21257758-C-G c.834G>C p.M278I Missense 8/29 - 1
2-21257758-C-T c.834G>A p.M278I Missense 8/29 - 1
2-21257761-CCC-GCT c.829_831delinsAGC p.G277S Missense 8/29 - 1
2-21257927-T-C c.819-154A>G - IntronicSNV - 7/28 2
2-21258469-G-C c.805C>G p.P269A Missense 7/29 - 1
2-21258490-T-C c.784A>G p.K262E Missense 7/29 - 1
2-21258519-T-A c.755A>T p.K252M Missense 7/29 - 1
2-21258529-AGTGTG-A c.741_745del p.T248Gfs*3 Frameshift 7/29 - 1
2-21258542-G-A c.732C>T p.S244= Synonymous 7/29 - 1
2-21258550-T-TA c.723_724insT p.S242* Nonsense 7/29 - 1
2-21258573-G-A c.701C>T p.P234L Missense 7/29 - 1
2-21259562-T-C c.693+410A>G - IntronicSNV - 6/28 6
2-21259612-A-G c.693+360T>C - IntronicSNV - 6/28 15
2-21259976-C-A c.689G>T p.G230V Missense 6/29 - 1
2-21259986-G-A c.679C>T p.L227F Missense 6/29 - 1
2-21259989-C-T c.676G>A p.A226T Missense 6/29 - 1
2-21259993-TG-T c.671del p.P224Hfs*8 Frameshift 6/29 - 1
2-21260009-C-T c.656G>A p.R219H Missense 6/29 - 2
2-21260023-GC-TT c.641_642delinsAA p.R214Q Missense 6/29 - 1
2-21260024-C-A c.641G>T p.R214L Missense 6/29 - 1
2-21260025-G-A c.640C>T p.R214C Missense 6/29 - 1
2-21260045-CT-GC c.619_620delinsGC p.R207A Missense 6/29 - 1
2-21260049-C-T c.616G>A p.E206K Missense 6/29 - 1
2-21260052-T-C c.613A>G p.T205A Missense 6/29 - 1
2-21260065-TGC-ACA c.598_600delinsTGT p.A200C Missense 6/29 - 1
2-21260074-TGCC-T c.589_591del p.G197del InFrameDeletion 6/29 - 3
2-21260076-C-T c.589G>A p.G197S Missense 6/29 - 1
2-21260084-G-A c.581C>T p.T194M Missense 6/29 - 5
2-21260117-T-C c.548A>G p.Y183C Missense 6/29 - 1
2-21260127-C-G c.538G>C p.D180H Missense 6/29 - 1
2-21260204-G-A c.538-77C>T - IntronicSNV - 5/28 1
2-21260601-G-A c.537+229C>T - IntronicSNV - 5/28 2
2-21260829-C-A c.537+1G>T - IntronicSNV - 5/28 1
2-21260833-A-C c.534T>G p.F178L Missense 5/29 - 1
2-21260853-C-A c.514G>T p.E172* Nonsense 5/29 - 1
2-21260868-G-A c.499C>T p.P167S Missense 5/29 - 1
2-21260882-G-A c.485C>T p.S162F Missense 5/29 - 1
2-21260882-G-T c.485C>A p.S162Y Missense 5/29 - 1
2-21260893-CCT-ACA c.472_474delinsTGT p.R158C Missense 5/29 - 11
2-21260934-G-A c.433C>T p.P145S Missense 5/29 - 5
2-21260934-G-C c.433C>G p.P145A Missense 5/29 - 2
2-21260937-A-G c.430T>C p.Y144H Missense 5/29 - 1
2-21261998-A-C c.384-1015T>G - IntronicSNV - 4/28 1
2-21262427-G-A c.383+1383C>T - IntronicSNV - 4/28 1
2-21262427-G-T c.383+1383C>A - IntronicSNV - 4/28 1
2-21262756-G-A c.383+1054C>T - IntronicSNV - 4/28 1
2-21263639-T-G c.383+171A>C - IntronicSNV - 4/28 5
2-21263810-CT-GC c.382_383delinsGC p.R128A Missense 4/29 - 1
2-21263813-GA-CG c.379_380delinsCG p.S127R Missense 4/29 - 2
2-21263814-A-C c.379T>G p.S127A Missense 4/29 - 1
2-21263851-C-A c.342G>T p.K114N Missense 4/29 - 1
2-21263851-C-G c.342G>C p.K114N Missense 4/29 - 1
2-21263851-C-T c.342G>A p.K114= Synonymous 4/29 - 1
2-21263873-G-A c.320C>T p.P107L Missense 4/29 - 1
2-21263883-C-G c.310G>C p.G104R Missense 4/29 - 1
2-21263892-C-T c.301G>A p.E101K Missense 4/29 - 2
2-21263900-G-A c.293C>T p.T98I Missense 4/29 - 95
2-21263900-GT-CC c.292_293delinsGG p.T98G Missense 4/29 - 1
2-21263928-T-A c.265A>T p.S89C Missense 4/29 - 1
2-21263945-T-G c.248A>C p.E83A Missense 4/29 - 1
2-21263952-C-A c.241G>T p.E81* Nonsense 4/29 - 1
2-21264007-T-C c.238-52A>G - IntronicSNV - 3/28 1
2-21264734-T-C c.237+499A>G - IntronicSNV - 3/28 1
2-21264937-T-A c.237+296A>T - IntronicSNV - 3/28 1
2-21264937-T-C c.237+296A>G - IntronicSNV - 3/28 1
2-21264937-T-G c.237+296A>C - IntronicSNV - 3/28 1
2-21265141-C-A c.237+92G>T - IntronicSNV - 3/28 2
2-21265141-C-T c.237+92G>A - IntronicSNV - 3/28 1
2-21265157-C-T c.237+76G>A - IntronicSNV - 3/28 1
2-21265252-G-T c.218C>A p.A73D Missense 3/29 - 1
2-21265265-C-T c.205G>A p.D69N Missense 3/29 - 1
2-21265267-G-T c.203C>A p.A68D Missense 3/29 - 1
2-21265298-C-G c.172G>C p.A58P Missense 3/29 - 2
2-21265304-A-G c.166T>C p.Y56H Missense 3/29 - 1
2-21265312-G-A c.158C>T p.T53I Missense 3/29 - 1
2-21265320-CCG-ACA c.148_150delinsTGT p.R50C Missense 3/29 - 2
2-21265321-C-T c.149G>A p.R50Q Missense 3/29 - 1
2-21265322-G-A c.148C>T p.R50W Missense 3/29 - 6
2-21265328-G-T c.142C>A p.H48N Missense 3/29 - 1
2-21265336-C-T c.134G>A p.R45Q Missense 3/29 - 1
2-21265337-G-A c.133C>T p.R45* Nonsense 3/29 - 1
2-21265341-C-G c.129G>C p.A43= Synonymous 3/29 - 1
2-21265341-C-T c.129G>A p.A43= Synonymous 3/29 - 1
2-21265518-A-T c.122-170T>A - IntronicSNV - 2/28 1
2-21265695-T-C c.122-347A>G - IntronicSNV - 2/28 1
2-21266390-CA-TC c.115_116delinsGA p.C39D Missense 2/29 - 1
2-21266396-AG-GC c.109_110delinsGC p.L37A Missense 2/29 - 1
2-21266659-C-G c.82+77G>C - IntronicSNV - 1/28 2
2-21266737-G-A c.81C>T p.A27= Synonymous 1/29 - 1
2-21266737-G-C c.81C>G p.A27= Synonymous 1/29 - 1
2-21266737-G-T c.81C>A p.A27= Synonymous 1/29 - 1
2-21266743-GG-CT c.74_75delinsAG p.A25E Missense 1/29 - 1
2-21266747-C-A c.71G>T p.G24V Missense 1/29 - 1
2-21266751-CCAGCAGCAG-C c.58_66del p.L20_L22del InFrameDeletion 1/29 - 1
2-21266771-G-A c.47C>T p.A16V Missense 1/29 - 2
2-21266778-GCGC-G c.37_39del p.A13del InFrameDeletion 1/29 - 1
2-21266780-GC-AG c.37_38delinsCT p.A13L Missense 1/29 - 1
2-21266783-A-G c.35T>C p.L12P Missense 1/29 - 1
2-21266774-GGCAGCGCCA-G c.35_43del p.L12_L14del InFrameDeletion 1/29 - 5
2-21266800-G-A c.18C>T p.P6= Synonymous 1/29 - 1
2-21266800-G-C c.18C>G p.P6= Synonymous 1/29 - 1
2-21266800-G-T c.18C>A p.P6= Synonymous 1/29 - 1
2-21266806-C-A c.12G>T p.P4= Synonymous 1/29 - 3
2-21266806-C-G c.12G>C p.P4= Synonymous 1/29 - 3
2-21266806-C-T c.12G>A p.P4= Synonymous 1/29 - 3
2-21266809-C-A c.9G>T p.P3= Synonymous 1/29 - 1
2-21266809-C-G c.9G>C p.P3= Synonymous 1/29 - 1
2-21266809-C-T c.9G>A p.P3= Synonymous 1/29 - 1
2-21266816-A-G c.2T>C p.M1? Missense 1/29 - 1