CFTR CF transmembrane conductance regulator

Annotation transcript: NM_000492.4

4356 unique variant annotations were identified in 2530 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
7-117120101-A-G c.-48A>G - 5-UTRSNV 1/27 - 1
7-117120107-A-G c.-42A>G - 5-UTRSNV 1/27 - 1
7-117120108-G-C c.-41G>C - 5-UTRSNV 1/27 - 1
7-117120115-C-A c.-34C>A - 5-UTRSNV 1/27 - 1
7-117120115-C-T c.-34C>T - 5-UTRSNV 1/27 - 1
7-117120118-C-T c.-31C>T - 5-UTRSNV 1/27 - 1
7-117120120-C-T c.-29C>T - 5-UTRSNV 1/27 - 1
7-117120125-A-G c.-24A>G - 5-UTRSNV 1/27 - 1
7-117120128-G-T c.-21G>T - 5-UTRSNV 1/27 - 1
7-117120129-A-G c.-20A>G - 5-UTRSNV 1/27 - 1
7-117120133-C-T c.-16C>T - 5-UTRSNV 1/27 - 1
7-117120136-C-G c.-13C>G - 5-UTRSNV 1/27 - 1
7-117120136-C-T c.-13C>T - 5-UTRSNV 1/27 - 1
7-117120141-G-C c.-8G>C - 5-UTRSNV 1/27 - 5
7-117120145-G-C c.-4G>C - 5-UTRSNV 1/27 - 2
7-117120147-C-G c.-2C>G - 5-UTRSNV 1/27 - 1
7-117120147-C-T c.-2C>T - 5-UTRSNV 1/27 - 1
7-117120149-A-G c.1A>G p.M1? Missense 1/27 - 6
7-117120149-A-AC c.1_2insC p.M1? CdsStartInsertion 1/27 - 2
7-117120149-CAT-C c.1_2del p.M1? CdsStartDeletion 1/27 - 2
7-117120149-A-ACCTAC c.1_2insCCTAC p.M1? CdsStartInsertion 1/27 - 2
7-117120149-A-T c.1A>T p.M1? Missense 1/27 - 1
7-117120150-T-C c.2T>C p.M1? Missense 1/27 - 4
7-117120150-T-A c.2T>A p.M1? Missense 1/27 - 2
7-117120150-T-G c.2T>G p.M1? Missense 1/27 - 1
7-117120151-G-A c.3G>A p.M1? Missense 1/27 - 5
7-117120151-G-T c.3G>T p.M1? Missense 1/27 - 1
7-117120152-C-T c.4C>T p.Q2* Nonsense 1/27 - 1
7-117120155-A-T c.7A>T p.R3W Missense 1/27 - 1
7-117120156-G-T c.8G>T p.R3M Missense 1/27 - 1
7-117120157-G-A c.9G>A p.R3= Synonymous 1/27 - 1
7-117120155-A-C c.7A>C p.R3= Synonymous 1/27 - 1
7-117120157-G-T c.9G>T p.R3S Missense 1/27 - 1
7-117120158-T-G c.10T>G p.S4A Missense 1/27 - 1
7-117120159-C-A c.11C>A p.S4* Nonsense 1/27 - 6
7-117120159-C-T c.11C>T p.S4L Missense 1/27 - 4
7-117120160-G-T c.12G>T p.S4= Synonymous 1/27 - 2
7-117120162-C-T c.14C>T p.P5L Missense 1/27 - 7
7-117120163-T-C c.15T>C p.P5= Synonymous 1/27 - 3
7-117120163-T-G c.15T>G p.P5= Synonymous 1/27 - 1
7-117120163-T-A c.15T>A p.P5= Synonymous 1/27 - 1
7-117120164-C-G c.16C>G p.L6V Missense 1/27 - 1
7-117120165-T-G c.17T>G p.L6R Missense 1/27 - 1
7-117120166-G-C c.18G>C p.L6= Synonymous 1/27 - 1
7-117120167-G-C c.19G>C p.E7Q Missense 1/27 - 2
7-117120167-G-T c.19G>T p.E7* Nonsense 1/27 - 5
7-117120167-GGAA-G c.19_21del p.E7del InFrameDeletion 1/27 - 1
7-117120169-AAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAGGTGAGAAGGTGGCCAACCGAGCTTCG-A c.21_53+26del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/27 1/26 1
7-117120172-G-A c.24G>A p.K8= Synonymous 1/27 - 1
7-117120173-G-A c.25G>A p.A9T Missense 1/27 - 1
7-117120171-A-AG c.25dup p.A9Gfs*36 Frameshift 1/27 - 1
7-117120174-C-T c.26C>T p.A9V Missense 1/27 - 1
7-117120176-AG-CC c.28_29delinsCC p.S10P Missense 1/27 - 1
7-117120176-AG-GC c.28_29delinsGC p.S10A Missense 1/27 - 28
7-117120176-A-T c.28A>T p.S10C Missense 1/27 - 9
7-117120176-AGC-GAG c.28_30delinsGAG p.S10E Missense 1/27 - 4
7-117120176-A-G c.28A>G p.S10G Missense 1/27 - 2
7-117120176-AG-TT c.28_29delinsTT p.S10F Missense 1/27 - 3
7-117120176-AG-GA c.28_29delinsGA p.S10D Missense 1/27 - 4
7-117120176-AG-CA c.28_29delinsCA p.S10H Missense 1/27 - 1
7-117120177-G-A c.29G>A p.S10N Missense 1/27 - 2
7-117120178-C-G c.30C>G p.S10R Missense 1/27 - 1
7-117120178-C-T c.30C>T p.S10= Synonymous 1/27 - 1
7-117120179-G-A c.31G>A p.V11I Missense 1/27 - 7
7-117120179-G-C c.31G>C p.V11L Missense 1/27 - 4
7-117120179-GT-TG c.31_32delinsTG p.V11C Missense 1/27 - 1
7-117120180-T-C c.32T>C p.V11A Missense 1/27 - 1
7-117120182-G-C c.34G>C p.V12L Missense 1/27 - 1
7-117120182-G-T c.34G>T p.V12F Missense 1/27 - 1
7-117120183-T-C c.35T>C p.V12A Missense 1/27 - 1
7-117120185-T-G c.37T>G p.S13A Missense 1/27 - 12
7-117120185-TC-GA c.37_38inv p.S13D Missense 1/27 - 2
7-117120186-C-T c.38C>T p.S13F Missense 1/27 - 14
7-117120186-C-G c.38C>G p.S13C Missense 1/27 - 4
7-117120186-C-A c.38C>A p.S13Y Missense 1/27 - 1
7-117120188-A-G c.40A>G p.K14E Missense 1/27 - 1
7-117120188-A-T c.40A>T p.K14* Nonsense 1/27 - 2
7-117120189-A-G c.41A>G p.K14R Missense 1/27 - 2
7-117120189-A-T c.41A>T p.K14I Missense 1/27 - 1
7-117120187-CA-C c.42del p.K14Nfs*11 Frameshift 1/27 - 1
7-117120191-AC-A c.43del p.L15Ffs*10 Frameshift 1/27 - 2
7-117120191-C-G c.43C>G p.L15V Missense 1/27 - 1
7-117120191-C-T c.43C>T p.L15F Missense 1/27 - 1
7-117120191-CT-GC c.43_44delinsGC p.L15A Missense 1/27 - 1
7-117120192-T-C c.44T>C p.L15P Missense 1/27 - 4
7-117120194-TTT-GAG c.46_48delinsGAG p.F16E Missense 1/27 - 1
7-117120194-T-G c.46T>G p.F16V Missense 1/27 - 1
7-117120195-T-G c.47T>G p.F16C Missense 1/27 - 1
7-117120196-T-TGC c.48_49insGC p.F17Afs*9 Frameshift 1/27 - 1
7-117120197-T-C c.49T>C p.F17L Missense 1/27 - 1
7-117120197-T-G c.49T>G p.F17V Missense 1/27 - 1
7-117120197-TTC-GAG c.49_51delinsGAG p.F17E Missense 1/27 - 1
7-117120191-CTT-C c.49_50del p.F17Qfs*27 Frameshift 1/27 - 1
7-117120191-C-CT c.50dup p.S18Qfs*27 Frameshift 1/27 - 1
7-117120191-CT-C c.50del p.F17Sfs*8 Frameshift 1/27 - 1
7-117120199-C-T c.51C>T p.F17= Synonymous 1/27 - 2
7-117120200-A-G c.52A>G p.S18G Missense 1/27 - 2
7-117120200-A-T c.52A>T p.S18C Missense 1/27 - 2
7-117120200-AG-GC c.52_53delinsGC p.S18A Missense 1/27 - 3
7-117120200-AG-TA c.52_53delinsTA p.S18Y Missense 1/27 - 1
7-117120202-G-T c.53+1G>T - IntronicSNV - 1/26 3
7-117120203-T-G c.53+2T>G - IntronicSNV - 1/26 2
7-117120205-A-T c.53+4A>T - IntronicSNV - 1/26 1
7-117120229-A-G c.53+28A>G - IntronicSNV - 1/26 1
7-117120675-T-C c.53+474T>C - IntronicSNV - 1/26 1
7-117126401-G-A c.53+6200G>A - IntronicSNV - 1/26 1
7-117128942-A-C c.53+8741A>C - IntronicSNV - 1/26 1
7-117129404-T-C c.53+9203T>C - IntronicSNV - 1/26 1
7-117129491-A-G c.53+9290A>G - IntronicSNV - 1/26 1
7-117130142-A-C c.53+9941A>C - IntronicSNV - 1/26 1
7-117130643-G-C c.53+10442G>C - IntronicSNV - 1/26 1
7-117131336-T-A c.53+11135T>A - IntronicSNV - 1/26 1
7-117134517-C-G c.54-9790C>G - IntronicSNV - 1/26 3
7-117135025-G-C c.54-9282G>C - IntronicSNV - 1/26 2
7-117137616-A-G c.54-6691A>G - IntronicSNV - 1/26 1
7-117140634-G-A c.54-3673G>A - IntronicSNV - 1/26 1
7-117141305-C-T c.54-3002C>T - IntronicSNV - 1/26 2
7-117143602-C-G c.54-705C>G - IntronicSNV - 1/26 2
7-117144307-C-G c.54C>G p.S18R Missense 2/27 - 1
7-117144307-C-A c.54C>A p.S18R Missense 2/27 - 1
7-117120200-A-C c.52A>C p.S18R Missense 1/27 - 1
7-117144309-G-A c.56G>A p.W19* Nonsense 2/27 - 3
7-117144310-G-A c.57G>A p.W19* Nonsense 2/27 - 3
7-117144310-G-T c.57G>T p.W19C Missense 2/27 - 4
7-117144310-G-C c.57G>C p.W19C Missense 2/27 - 4
7-117144311-AC-TG c.58_59delinsTG p.T20C Missense 2/27 - 1
7-117144311-A-T c.58A>T p.T20S Missense 2/27 - 1
7-117144312-CC-AG c.59_60delinsAG p.T20K Missense 2/27 - 1
7-117144312-C-G c.59C>G p.T20S Missense 2/27 - 1
7-117144312-C-T c.59C>T p.T20I Missense 2/27 - 1
7-117144314-AGA-TGT c.61_63delinsTGT p.R21C Missense 2/27 - 1
7-117144315-G-T c.62G>T p.R21I Missense 2/27 - 1
7-117144316-A-G c.63A>G p.R21= Synonymous 2/27 - 1
7-117144318-C-T c.65C>T p.P22L Missense 2/27 - 2
7-117144319-A-G c.66A>G p.P22= Synonymous 2/27 - 1
7-117144323-T-G c.70T>G p.L24V Missense 2/27 - 1
7-117144323-TT-GC c.70_71delinsGC p.L24A Missense 2/27 - 1
7-117144323-TTG-CAT c.70_72delinsCAT p.L24H Missense 2/27 - 1
7-117144327-G-C c.74G>C p.R25T Missense 2/27 - 1
7-117144329-A-G c.76A>G p.K26E Missense 2/27 - 1
7-117144332-G-T c.79G>T p.G27* Nonsense 2/27 - 6
7-117144332-G-A c.79G>A p.G27R Missense 2/27 - 6
7-117144332-G-C c.79G>C p.G27R Missense 2/27 - 5
7-117144333-G-T c.80G>T p.G27V Missense 2/27 - 2
7-117144333-G-A c.80G>A p.G27E Missense 2/27 - 1
7-117144335-T-C c.82T>C p.Y28H Missense 2/27 - 1
7-117144337-C-T c.84C>T p.Y28= Synonymous 2/27 - 1
7-117144338-A-G c.85A>G p.R29G Missense 2/27 - 1
7-117144338-A-T c.85A>T p.R29* Nonsense 2/27 - 2
7-117144338-AGA-TGT c.85_87delinsTGT p.R29C Missense 2/27 - 1
7-117144339-G-C c.86G>C p.R29T Missense 2/27 - 1
7-117144339-G-A c.86G>A p.R29K Missense 2/27 - 15
7-117144339-G-T c.86G>T p.R29I Missense 2/27 - 1
7-117144340-A-G c.87A>G p.R29= Synonymous 2/27 - 1
7-117144343-G-A c.90G>A p.Q30= Synonymous 2/27 - 1
7-117144343-AG-A c.90del p.Q30Hfs*61 Frameshift 2/27 - 1
7-117144342-A-AG c.90dup p.R31Afs*14 Frameshift 2/27 - 1
7-117144344-C-T c.91C>T p.R31C Missense 2/27 - 32
7-117144344-C-A c.91C>A p.R31S Missense 2/27 - 6
7-117144345-G-T c.92G>T p.R31L Missense 2/27 - 9
7-117144345-G-A c.92G>A p.R31H Missense 2/27 - 3
7-117144346-C-A c.93C>A p.R31= Synonymous 2/27 - 2
7-117144346-C-G c.93C>G p.R31= Synonymous 2/27 - 1
7-117144346-C-T c.93C>T p.R31= Synonymous 2/27 - 1
7-117144347-C-A c.94C>A p.L32M Missense 2/27 - 3
7-117144348-T-C c.95T>C p.L32P Missense 2/27 - 6
7-117144348-T-G c.95T>G p.L32R Missense 2/27 - 1
7-117144350-G-C c.97G>C p.E33Q Missense 2/27 - 1
7-117144350-G-A c.97G>A p.E33K Missense 2/27 - 1
7-117144351-A-C c.98A>C p.E33A Missense 2/27 - 2
7-117144350-GAATTGTCAGACATATACC-G c.100_117del p.L34_Q39del InFrameDeletion 2/27 - 2
7-117144354-T-G c.101T>G p.L34W Missense 2/27 - 1
7-117144356-TCA-GAC c.103_105delinsGAC p.S35D Missense 2/27 - 1
7-117144357-C-T c.104C>T p.S35L Missense 2/27 - 1
7-117144357-CA-GT c.104_105delinsGT p.S35C Missense 2/27 - 1
7-117144359-GA-TT c.106_107delinsTT p.D36F Missense 2/27 - 1
7-117144359-G-A c.106G>A p.D36N Missense 2/27 - 1
7-117144362-A-G c.109A>G p.I37V Missense 2/27 - 1
7-117144362-A-T c.109A>T p.I37L Missense 2/27 - 1
7-117144363-T-G c.110T>G p.I37R Missense 2/27 - 1
7-117144364-A-G c.111A>G p.I37M Missense 2/27 - 1
7-117144365-T-A c.112T>A p.Y38N Missense 2/27 - 1
7-117144365-T-C c.112T>C p.Y38H Missense 2/27 - 1
7-117144368-C-T c.115C>T p.Q39* Nonsense 2/27 - 16
7-117144368-C-A c.115C>A p.Q39K Missense 2/27 - 1
7-117144368-CCAA-C c.115_117del p.Q39del InFrameDeletion 2/27 - 1
7-117144370-A-C c.117A>C p.Q39H Missense 2/27 - 1
7-117144372-TC-T c.122del p.P41Lfs*50 Frameshift 2/27 - 11
7-117144377-T-C c.124T>C p.S42P Missense 2/27 - 1
7-117144378-C-T c.125C>T p.S42F Missense 2/27 - 7
7-117144378-C-A c.125C>A p.S42Y Missense 2/27 - 1
7-117144380-G-A c.127G>A p.V43I Missense 2/27 - 1
7-117144380-G-C c.127G>C p.V43L Missense 2/27 - 1
7-117144381-T-C c.128T>C p.V43A Missense 2/27 - 3
7-117144384-A-G c.131A>G p.D44G Missense 2/27 - 3
7-117144384-A-T c.131A>T p.D44V Missense 2/27 - 3
7-117144386-TC-GA c.133_134inv p.S45D Missense 2/27 - 2
7-117144386-T-G c.133T>G p.S45A Missense 2/27 - 4
7-117144386-T-A c.133T>A p.S45T Missense 2/27 - 1
7-117144387-C-G c.134C>G p.S45C Missense 2/27 - 1
7-117144390-C-A c.137C>A p.A46D Missense 2/27 - 4
7-117144390-C-T c.137C>T p.A46V Missense 2/27 - 2
7-117144393-A-C c.140A>C p.D47A Missense 2/27 - 1
7-117144394-C-G c.141C>G p.D47E Missense 2/27 - 1
7-117144394-C-A c.141C>A p.D47E Missense 2/27 - 1
7-117144395-A-T c.142A>T p.N48Y Missense 2/27 - 1
7-117144397-T-G c.144T>G p.N48K Missense 2/27 - 2
7-117144397-T-A c.144T>A p.N48K Missense 2/27 - 1
7-117144399-T-C c.146T>C p.L49P Missense 2/27 - 1
7-117144400-A-C c.147A>C p.L49= Synonymous 2/27 - 1
7-117144400-A-G c.147A>G p.L49= Synonymous 2/27 - 3
7-117144401-T-C c.148T>C p.S50P Missense 2/27 - 1
7-117144404-G-GA c.156dup p.L53Ifs*7 Frameshift 2/27 - 1
7-117144410-T-G c.157T>G p.L53V Missense 2/27 - 1
7-117144410-T-C c.157T>C p.L53= Synonymous 2/27 - 1
7-117144412-G-A c.159G>A p.L53= Synonymous 2/27 - 1
7-117144413-G-T c.160G>T p.E54* Nonsense 2/27 - 1
7-117144414-A-C c.161A>C p.E54A Missense 2/27 - 1
7-117144417-G-A c.164G>A p.R55K Missense 2/27 - 1
7-117144417-G-C c.164G>C p.R55T Missense 2/27 - 1
7-117144418-G-A c.164+1G>A - IntronicSNV - 2/26 3
7-117144418-G-C c.164+1G>C - IntronicSNV - 2/26 1
7-117144418-G-T c.164+1G>T - IntronicSNV - 2/26 1
7-117144419-T-C c.164+2T>C - IntronicSNV - 2/26 1
7-117144419-T-A c.164+2T>A - IntronicSNV - 2/26 1
7-117144429-T-C c.164+12T>C - IntronicSNV - 2/26 5
7-117144445-A-G c.164+28A>G - IntronicSNV - 2/26 3
7-117145102-T-C c.164+685T>C - IntronicSNV - 2/26 1
7-117146020-TG-T c.164+1603del - IntronicDeletion - 2/26 1
7-117146602-GA-G c.164+2187del - IntronicDeletion - 2/26 2
7-117147500-C-A c.165-1588C>A - IntronicSNV - 2/26 1
7-117147500-C-G c.165-1588C>G - IntronicSNV - 2/26 1
7-117147500-C-T c.165-1588C>T - IntronicSNV - 2/26 1
7-117149021-A-C c.165-67A>C - IntronicSNV - 2/26 1
7-117149085-C-A c.165-3C>A - IntronicSNV - 2/26 1
7-117149085-C-T c.165-3C>T - IntronicSNV - 2/26 1
7-117149087-G-A c.165-1G>A - IntronicSNV - 2/26 1
7-117149087-G-GA c.165dup p.E56Rfs*4 SpliceAcceptorInsertion 3/27 - 1
7-117149089-G-A c.166G>A p.E56K Missense 3/27 - 28
7-117149089-G-T c.166G>T p.E56* Nonsense 3/27 - 2
7-117149089-GA-CT c.166_167delinsCT p.E56L Missense 3/27 - 1
7-117149090-A-G c.167A>G p.E56G Missense 3/27 - 1
7-117149091-A-G c.168A>G p.E56= Synonymous 3/27 - 1
7-117149092-T-C c.169T>C p.W57R Missense 3/27 - 2
7-117149092-T-G c.169T>G p.W57G Missense 3/27 - 3
7-117149092-TG-GC c.169_170delinsGC p.W57A Missense 3/27 - 1
7-117149092-T-A c.169T>A p.W57R Missense 3/27 - 1
7-117149093-G-A c.170G>A p.W57* Nonsense 3/27 - 7
7-117149094-G-A c.171G>A p.W57* Nonsense 3/27 - 7
7-117149094-G-T c.171G>T p.W57C Missense 3/27 - 1
7-117149094-G-C c.171G>C p.W57C Missense 3/27 - 1
7-117149095-G-C c.172G>C p.D58H Missense 3/27 - 2
7-117149095-G-A c.172G>A p.D58N Missense 3/27 - 4
7-117149096-A-G c.173A>G p.D58G Missense 3/27 - 3
7-117149096-A-T c.173A>T p.D58V Missense 3/27 - 2
7-117149096-A-C c.173A>C p.D58A Missense 3/27 - 1
7-117149094-GGATA-G c.174_177del p.D58Efs*32 Frameshift 3/27 - 1
7-117149097-T-TA c.175dup p.R59Kfs*10 Frameshift 3/27 - 1
7-117149101-G-A c.178G>A p.E60K Missense 3/27 - 8
7-117149101-G-T c.178G>T p.E60* Nonsense 3/27 - 48
7-117149101-GAG-TAT c.178_180delinsTAT p.E60Y Missense 3/27 - 2
7-117149101-G-C c.178G>C p.E60Q Missense 3/27 - 1
7-117149102-A-C c.179A>C p.E60A Missense 3/27 - 1
7-117149103-G-A c.180G>A p.E60= Synonymous 3/27 - 1
7-117149103-G-C c.180G>C p.E60D Missense 3/27 - 1
7-117149105-T-G c.182T>G p.L61R Missense 3/27 - 1
7-117149106-G-T c.183G>T p.L61= Synonymous 3/27 - 1
7-117149107-GC-TT c.184_185delinsTT p.A62F Missense 3/27 - 1
7-117149108-CT-AG c.185_186inv p.A62E Missense 3/27 - 1
7-117149110-T-A c.187T>A p.S63T Missense 3/27 - 1
7-117149113-A-G c.190A>G p.K64E Missense 3/27 - 2
7-117149114-A-C c.191A>C p.K64T Missense 3/27 - 1
7-117149115-G-A c.192G>A p.K64= Synonymous 3/27 - 1
7-117149116-AAA-GAC c.193_195delinsGAC p.K65D Missense 3/27 - 1
7-117149117-A-G c.194A>G p.K65R Missense 3/27 - 1
7-117149120-A-G c.197A>G p.N66S Missense 3/27 - 1
7-117149122-C-T c.199C>T p.P67S Missense 3/27 - 3
7-117149122-C-A c.199C>A p.P67T Missense 3/27 - 1
7-117149123-C-T c.200C>T p.P67L Missense 3/27 - 81
7-117149125-A-G c.202A>G p.K68E Missense 3/27 - 8
7-117149125-AA-GC c.202_203delinsGC p.K68A Missense 3/27 - 1
7-117149125-A-T c.202A>T p.K68* Nonsense 3/27 - 1
7-117149126-A-G c.203A>G p.K68R Missense 3/27 - 1
7-117149127-A-C c.204A>C p.K68N Missense 3/27 - 2
7-117149127-A-T c.204A>T p.K68N Missense 3/27 - 5
7-117149128-C-T c.205C>T p.L69F Missense 3/27 - 1
7-117149129-T-A c.206T>A p.L69H Missense 3/27 - 3
7-117149131-A-C c.208A>C p.I70L Missense 3/27 - 1
7-117149133-T-C c.210T>C p.I70= Synonymous 3/27 - 1
7-117149133-T-A c.210T>A p.I70= Synonymous 3/27 - 1
7-117149137-G-A c.214G>A p.A72T Missense 3/27 - 5
7-117149138-C-A c.215C>A p.A72D Missense 3/27 - 3
7-117149138-C-T c.215C>T p.A72V Missense 3/27 - 1
7-117149140-C-T c.217C>T p.L73F Missense 3/27 - 1
7-117149143-C-T c.220C>T p.R74W Missense 3/27 - 70
7-117149143-CG-GC c.220_221delinsGC p.R74A Missense 3/27 - 1
7-117149143-CG-GA c.220_221delinsGA p.R74E Missense 3/27 - 1
7-117149144-G-A c.221G>A p.R74Q Missense 3/27 - 12
7-117149144-G-C c.221G>C p.R74P Missense 3/27 - 1
7-117149146-C-T c.223C>T p.R75* Nonsense 3/27 - 28
7-117149146-CG-GC c.223_224delinsGC p.R75A Missense 3/27 - 1
7-117149146-CG-GA c.223_224delinsGA p.R75E Missense 3/27 - 1
7-117149147-G-A c.224G>A p.R75Q Missense 3/27 - 73
7-117149147-G-T c.224G>T p.R75L Missense 3/27 - 3
7-117149149-T-A c.226T>A p.C76S Missense 3/27 - 4
7-117149149-T-C c.226T>C p.C76R Missense 3/27 - 2
7-117149150-G-C c.227G>C p.C76S Missense 3/27 - 3
7-117149149-T-G c.226T>G p.C76G Missense 3/27 - 1
7-117149151-T-G c.228T>G p.C76W Missense 3/27 - 2
7-117149155-T-C c.232T>C p.F78L Missense 3/27 - 1
7-117149150-G-GT c.233dup p.W79Lfs*32 Frameshift 3/27 - 4
7-117149156-T-A c.233T>A p.F78Y Missense 3/27 - 1
7-117149156-T-C c.233T>C p.F78S Missense 3/27 - 1
7-117149157-C-T c.234C>T p.F78= Synonymous 3/27 - 1
7-117149158-T-C c.235T>C p.W79R Missense 3/27 - 2
7-117149158-TG-GC c.235_236delinsGC p.W79A Missense 3/27 - 1
7-117149161-AG-GA c.238_239delinsGA p.R80E Missense 3/27 - 1
7-117149161-AG-GC c.238_239delinsGC p.R80A Missense 3/27 - 1
7-117149164-T-C c.241T>C p.F81L Missense 3/27 - 2
7-117149167-A-C c.244A>C p.M82L Missense 3/27 - 1
7-117149167-A-T c.244A>T p.M82L Missense 3/27 - 1
7-117149167-A-G c.244A>G p.M82V Missense 3/27 - 3
7-117149168-T-A c.245T>A p.M82K Missense 3/27 - 1
7-117149172-C-G c.249C>G p.F83L Missense 3/27 - 1
7-117149173-T-C c.250T>C p.Y84H Missense 3/27 - 2
7-117149174-A-G c.251A>G p.Y84C Missense 3/27 - 1
7-117149175-T-A c.252T>A p.Y84* Nonsense 3/27 - 2
7-117149175-T-C c.252T>C p.Y84= Synonymous 3/27 - 1
7-117149176-G-A c.253G>A p.G85R Missense 3/27 - 6
7-117149176-G-C c.253G>C p.G85R Missense 3/27 - 6
7-117149177-G-A c.254G>A p.G85E Missense 3/27 - 191
7-117149177-G-T c.254G>T p.G85V Missense 3/27 - 8
7-117149177-G-C c.254G>C p.G85A Missense 3/27 - 1
7-117149179-A-G c.256A>G p.I86V Missense 3/27 - 2
7-117149180-T-A c.257T>A p.I86N Missense 3/27 - 1
7-117149181-C-A c.258C>A p.I86= Synonymous 3/27 - 1
7-117149182-T-C c.259T>C p.F87L Missense 3/27 - 4
7-117149184-T-A c.261T>A p.F87L Missense 3/27 - 4
7-117149184-T-G c.261T>G p.F87L Missense 3/27 - 4
7-117149182-T-A c.259T>A p.F87I Missense 3/27 - 2
7-117149183-T-G c.260T>G p.F87C Missense 3/27 - 1
7-117149181-CTT-C c.262_263del p.L88Ifs*22 Frameshift 3/27 - 18
7-117149185-TT-CC c.262_263delinsCC p.L88P Missense 3/27 - 1
7-117149185-T-A c.262T>A p.L88I Missense 3/27 - 1
7-117149186-T-C c.263T>C p.L88S Missense 3/27 - 3
7-117149186-T-A c.263T>A p.L88* Nonsense 3/27 - 6
7-117149186-T-G c.263T>G p.L88* Nonsense 3/27 - 16
7-117149184-TTTATA-T c.264_268del p.L88Ffs*21 Frameshift 3/27 - 2
7-117149187-A-C c.264A>C p.L88F Missense 3/27 - 1
7-117149188-T-C c.265T>C p.Y89H Missense 3/27 - 1
7-117149189-A-G c.266A>G p.Y89C Missense 3/27 - 2
7-117149190-T-C c.267T>C p.Y89= Synonymous 3/27 - 1
7-117149192-T-C c.269T>C p.L90S Missense 3/27 - 1
7-117149194-G-A c.271G>A p.G91R Missense 3/27 - 21
7-117149194-G-C c.271G>C p.G91R Missense 3/27 - 17
7-117149195-G-A c.272G>A p.G91E Missense 3/27 - 1
7-117149195-G-C c.272G>C p.G91A Missense 3/27 - 1
7-117149196-G-T c.273G>T p.G91= Synonymous 3/27 - 3
7-117149196-G-A c.273G>A p.G91= Synonymous 3/27 - 4
7-117149196-G-C c.273G>C p.G91= Synonymous 3/27 - 4
7-117149196-G-GCCCTA c.273_273+1insCCCTA p.E92Pfs*2 SpliceDonorInsertion - - 1
7-117149197-G-A c.273+1G>A - IntronicSNV - 3/26 8
7-117149198-T-A c.273+2T>A - IntronicSNV - 3/26 1
7-117149199-A-C c.273+3A>C - IntronicSNV - 3/26 3
7-117149199-A-G c.273+3A>G - IntronicSNV - 3/26 1
7-117150075-C-A c.273+879C>A - IntronicSNV - 3/26 1
7-117151828-A-C c.273+2632A>C - IntronicSNV - 3/26 1
7-117154159-G-A c.273+4963G>A - IntronicSNV - 3/26 3
7-117163616-A-G c.274-7337A>G - IntronicSNV - 3/26 1
7-117163674-T-G c.274-7279T>G - IntronicSNV - 3/26 1
7-117165514-C-T c.274-5439C>T - IntronicSNV - 3/26 1
7-117170947-T-C c.274-6T>C - IntronicSNV - 3/26 1
7-117170952-G-A c.274-1G>A - IntronicSNV - 3/26 1
7-117170952-G-C c.274-1G>C - IntronicSNV - 3/26 1
7-117170952-G-T c.274-1G>T - IntronicSNV - 3/26 1
7-117170953-G-A c.274G>A p.E92K Missense 4/27 - 49
7-117170953-G-T c.274G>T p.E92* Nonsense 4/27 - 15
7-117170953-GA-AG c.274_275delinsAG p.E92R Missense 4/27 - 1
7-117170953-GA-AC c.274_275delinsAC p.E92T Missense 4/27 - 1
7-117170953-G-C c.274G>C p.E92Q Missense 4/27 - 1
7-117170953-GAA-AAC c.274_276delinsAAC p.E92N Missense 4/27 - 1
7-117170953-GAA-TGT c.274_276delinsTGT p.E92C Missense 4/27 - 3
7-117170954-A-T c.275A>T p.E92V Missense 4/27 - 1
7-117170954-A-C c.275A>C p.E92A Missense 4/27 - 2
7-117170955-A-C c.276A>C p.E92D Missense 4/27 - 1
7-117170955-A-T c.276A>T p.E92D Missense 4/27 - 1
7-117170955-A-G c.276A>G p.E92= Synonymous 4/27 - 1
7-117170958-C-T c.279C>T p.V93= Synonymous 4/27 - 2
7-117170959-AC-CT c.280_281delinsCT p.T94L Missense 4/27 - 1
7-117170959-A-C c.280A>C p.T94P Missense 4/27 - 1
7-117170960-C-T c.281C>T p.T94I Missense 4/27 - 2
7-117170960-CC-GG c.281_282inv p.T94R Missense 4/27 - 1
7-117170961-C-G c.282C>G p.T94= Synonymous 4/27 - 1
7-117170962-A-C c.283A>C p.K95Q Missense 4/27 - 4
7-117170962-A-G c.283A>G p.K95E Missense 4/27 - 3
7-117170962-AAA-TGT c.283_285delinsTGT p.K95C Missense 4/27 - 9
7-117170962-AAA-GAC c.283_285delinsGAC p.K95D Missense 4/27 - 2
7-117170962-AA-GC c.283_284delinsGC p.K95A Missense 4/27 - 1
7-117170963-AA-GC c.284_285delinsGC p.K95S Missense 4/27 - 6
7-117170965-GCA-TTT c.286_288delinsTTT p.A96F Missense 4/27 - 1
7-117170965-G-T c.286G>T p.A96S Missense 4/27 - 1
7-117170965-GCA-TGT c.286_288delinsTGT p.A96C Missense 4/27 - 1
7-117170966-C-A c.287C>A p.A96E Missense 4/27 - 3
7-117170967-A-C c.288A>C p.A96= Synonymous 4/27 - 1
7-117170967-A-G c.288A>G p.A96= Synonymous 4/27 - 1
7-117170967-A-T c.288A>T p.A96= Synonymous 4/27 - 1
7-117170968-GT-TC c.289_290delinsTC p.V97S Missense 4/27 - 1
7-117170968-G-C c.289G>C p.V97L Missense 4/27 - 1
7-117170968-G-T c.289G>T p.V97L Missense 4/27 - 1
7-117170969-T-C c.290T>C p.V97A Missense 4/27 - 1
7-117170971-C-T c.292C>T p.Q98* Nonsense 4/27 - 10
7-117170971-C-A c.292C>A p.Q98K Missense 4/27 - 4
7-117170971-CAG-TGT c.292_294delinsTGT p.Q98C Missense 4/27 - 6
7-117170972-A-G c.293A>G p.Q98R Missense 4/27 - 24
7-117170972-A-C c.293A>C p.Q98P Missense 4/27 - 3
7-117170973-G-A c.294G>A p.Q98= Synonymous 4/27 - 1
7-117170974-C-G c.295C>G p.P99A Missense 4/27 - 1
7-117170974-CC-TG c.295_296delinsTG p.P99C Missense 4/27 - 3
7-117170974-C-T c.295C>T p.P99S Missense 4/27 - 1
7-117170975-C-T c.296C>T p.P99L Missense 4/27 - 5
7-117170977-C-T c.298C>T p.L100F Missense 4/27 - 2
7-117170977-C-G c.298C>G p.L100V Missense 4/27 - 1
7-117170978-T-G c.299T>G p.L100R Missense 4/27 - 1
7-117170980-TT-CC c.301_302delinsCC p.L101P Missense 4/27 - 1
7-117170981-T-C c.302T>C p.L101S Missense 4/27 - 1
7-117170981-T-G c.302T>G p.L101* Nonsense 4/27 - 2
7-117170983-CTG-TGT c.304_306delinsTGT p.L102C Missense 4/27 - 5
7-117170984-T-C c.305T>C p.L102P Missense 4/27 - 3
7-117170984-T-G c.305T>G p.L102R Missense 4/27 - 3
7-117170986-GGA-TGT c.307_309delinsTGT p.G103C Missense 4/27 - 1
7-117170987-G-A c.308G>A p.G103E Missense 4/27 - 1
7-117170989-A-G c.310A>G p.R104G Missense 4/27 - 1
7-117170989-AGA-TGT c.310_312delinsTGT p.R104C Missense 4/27 - 4
7-117170989-AG-GA c.310_311delinsGA p.R104E Missense 4/27 - 1
7-117170989-AG-CA c.310_311delinsCA p.R104Q Missense 4/27 - 1
7-117170990-G-A c.311G>A p.R104K Missense 4/27 - 1
7-117170990-G-C c.311G>C p.R104T Missense 4/27 - 1
7-117170990-G-T c.311G>T p.R104I Missense 4/27 - 1
7-117170992-A-G c.313A>G p.I105V Missense 4/27 - 1
7-117170990-GA-G c.313del p.I105Sfs*2 Frameshift 4/27 - 7
7-117170993-T-A c.314T>A p.I105N Missense 4/27 - 3
7-117170995-ATA-TGT c.316_318delinsTGT p.I106C Missense 4/27 - 2
7-117170996-T-TATA c.318_319insTAA p.I106_A107ins* InFrameInsertion 4/27 - 1
7-117170998-GC-TG c.319_320delinsTG p.A107C Missense 4/27 - 3
7-117170998-G-A c.319G>A p.A107T Missense 4/27 - 1
7-117170995-ATAGCTTCC-A c.319_326del p.A107* Frameshift 4/27 - 2
7-117170998-GCT-TAA c.319_321delinsTAA p.A107* Nonsense 4/27 - 3
7-117170999-C-A c.320C>A p.A107D Missense 4/27 - 1
7-117171000-T-G c.321T>G p.A107= Synonymous 4/27 - 1
7-117171002-C-A c.323C>A p.S108Y Missense 4/27 - 1
7-117171002-C-T c.323C>T p.S108F Missense 4/27 - 2
7-117171002-C-G c.323C>G p.S108C Missense 4/27 - 1
7-117171003-C-CGG c.324_325insGG p.Y109Gfs*16 Frameshift 4/27 - 1
7-117171004-T-A c.325T>A p.Y109N Missense 4/27 - 3
7-117171004-T-C c.325T>C p.Y109H Missense 4/27 - 1
7-117171004-TAT-G c.325_327delinsG p.Y109Gfs*4 Frameshift 4/27 - 4
7-117171004-TA-GG c.325_326delinsGG p.Y109G Missense 4/27 - 1
7-117171005-A-G c.326A>G p.Y109C Missense 4/27 - 10
7-117171006-T-A c.327T>A p.Y109* Nonsense 4/27 - 1
7-117171006-T-C c.327T>C p.Y109= Synonymous 4/27 - 1
7-117171007-G-C c.328G>C p.D110H Missense 4/27 - 50
7-117171007-G-A c.328G>A p.D110N Missense 4/27 - 2
7-117171007-G-T c.328G>T p.D110Y Missense 4/27 - 1
7-117171007-GA-CG c.328_329delinsCG p.D110R Missense 4/27 - 4
7-117171007-GA-TG c.328_329delinsTG p.D110C Missense 4/27 - 2
7-117171008-A-C c.329A>C p.D110A Missense 4/27 - 2
7-117171009-C-G c.330C>G p.D110E Missense 4/27 - 17
7-117171009-C-A c.330C>A p.D110E Missense 4/27 - 23
7-117171010-C-G c.331C>G p.P111A Missense 4/27 - 1
7-117171011-C-T c.332C>T p.P111L Missense 4/27 - 4
7-117171011-C-G c.332C>G p.P111R Missense 4/27 - 3
7-117171011-C-A c.332C>A p.P111Q Missense 4/27 - 1
7-117171012-G-T c.333G>T p.P111= Synonymous 4/27 - 1
7-117171012-G-A c.333G>A p.P111= Synonymous 4/27 - 3
7-117171012-G-C c.333G>C p.P111= Synonymous 4/27 - 1
7-117171013-G-A c.334G>A p.D112N Missense 4/27 - 1
7-117171013-GA-CG c.334_335delinsCG p.D112R Missense 4/27 - 1
7-117171013-GA-TG c.334_335delinsTG p.D112C Missense 4/27 - 1
7-117171014-A-G c.335A>G p.D112G Missense 4/27 - 2
7-117171019-CAAG-C c.340_342del p.K114del InFrameDeletion 4/27 - 2
7-117171019-AAG-GAC c.340_342delinsGAC p.K114D Missense 4/27 - 1
7-117171019-AAG-TGT c.340_342delinsTGT p.K114C Missense 4/27 - 1
7-117171020-A-C c.341A>C p.K114T Missense 4/27 - 1
7-117171020-A-G c.341A>G p.K114R Missense 4/27 - 1
7-117171022-GA-AG c.343_344delinsAG p.E115R Missense 4/27 - 1
7-117171022-GAG-TGT c.343_345delinsTGT p.E115C Missense 4/27 - 1
7-117171019-AAGG-A c.345_347del p.E116del InFrameDeletion 4/27 - 1
7-117171025-G-A c.346G>A p.E116K Missense 4/27 - 7
7-117171025-G-C c.346G>C p.E116Q Missense 4/27 - 3
7-117171025-GAA-TGT c.346_348delinsTGT p.E116C Missense 4/27 - 2
7-117171025-GA-AG c.346_347delinsAG p.E116R Missense 4/27 - 3
7-117171026-A-C c.347A>C p.E116A Missense 4/27 - 1
7-117171026-A-G c.347A>G p.E116G Missense 4/27 - 1
7-117171027-A-C c.348A>C p.E116D Missense 4/27 - 1
7-117171027-A-T c.348A>T p.E116D Missense 4/27 - 1
7-117171028-C-T c.349C>T p.R117C Missense 4/27 - 58
7-117171028-CG-GC c.349_350delinsGC p.R117A Missense 4/27 - 4
7-117171028-C-G c.349C>G p.R117G Missense 4/27 - 8
7-117171028-C-A c.349C>A p.R117S Missense 4/27 - 3
7-117171028-CGC-AAG c.349_351delinsAAG p.R117K Missense 4/27 - 1
7-117171028-CGC-GAG c.349_351delinsGAG p.R117E Missense 4/27 - 2
7-117171029-G-A c.350G>A p.R117H Missense 4/27 - 513
7-117171029-G-C c.350G>C p.R117P Missense 4/27 - 10
7-117171029-G-T c.350G>T p.R117L Missense 4/27 - 15
7-117171029-GC-AA c.350_351delinsAA p.R117Q Missense 4/27 - 1
7-117171031-T-A c.352T>A p.S118T Missense 4/27 - 1
7-117171032-C-G c.353C>G p.S118C Missense 4/27 - 1
7-117171032-C-T c.353C>T p.S118F Missense 4/27 - 1
7-117171032-C-A c.353C>A p.S118Y Missense 4/27 - 1
7-117171034-A-G c.355A>G p.I119V Missense 4/27 - 2
7-117171036-C-T c.357C>T p.I119= Synonymous 4/27 - 1
7-117171036-C-G c.357C>G p.I119M Missense 4/27 - 1
7-117171036-C-A c.357C>A p.I119= Synonymous 4/27 - 1
7-117171037-G-C c.358G>C p.A120P Missense 4/27 - 3
7-117171037-G-A c.358G>A p.A120T Missense 4/27 - 10
7-117171037-G-T c.358G>T p.A120S Missense 4/27 - 2
7-117171038-C-T c.359C>T p.A120V Missense 4/27 - 2
7-117171039-G-A c.360G>A p.A120= Synonymous 4/27 - 4
7-117171039-G-C c.360G>C p.A120= Synonymous 4/27 - 1
7-117171039-G-T c.360G>T p.A120= Synonymous 4/27 - 2
7-117171040-A-T c.361A>T p.I121F Missense 4/27 - 1
7-117171040-A-G c.361A>G p.I121V Missense 4/27 - 1
7-117171043-T-C c.364T>C p.Y122H Missense 4/27 - 2
7-117171044-A-G c.365A>G p.Y122C Missense 4/27 - 1
7-117171045-T-A c.366T>A p.Y122* Nonsense 4/27 - 42
7-117171045-T-G c.366T>G p.Y122* Nonsense 4/27 - 30
7-117171046-C-G c.367C>G p.L123V Missense 4/27 - 2
7-117171048-A-T c.369A>T p.L123= Synonymous 4/27 - 1
7-117171048-A-G c.369A>G p.L123= Synonymous 4/27 - 1
7-117171048-A-C c.369A>C p.L123= Synonymous 4/27 - 1
7-117171046-C-T c.367C>T p.L123= Synonymous 4/27 - 1
7-117171049-G-C c.370G>C p.G124R Missense 4/27 - 1
7-117171050-G-A c.371G>A p.G124D Missense 4/27 - 1
7-117171052-A-G c.373A>G p.I125V Missense 4/27 - 1
7-117171053-T-C c.374T>C p.I125T Missense 4/27 - 11
7-117171055-G-A c.376G>A p.G126S Missense 4/27 - 4
7-117171056-G-A c.377G>A p.G126D Missense 4/27 - 9
7-117171056-G-C c.377G>C p.G126A Missense 4/27 - 2
7-117171056-G-T c.377G>T p.G126V Missense 4/27 - 1
7-117171058-T-C c.379T>C p.L127= Synonymous 4/27 - 1
7-117171060-A-G c.381A>G p.L127= Synonymous 4/27 - 1
7-117171057-C-CTTA c.380_382dup p.L127dup InFrameInsertion 4/27 - 1
7-117171059-T-G c.380T>G p.L127* Nonsense 4/27 - 1
7-117171059-T-C c.380T>C p.L127S Missense 4/27 - 1
7-117171061-T-A c.382T>A p.C128S Missense 4/27 - 1
7-117171062-G-C c.383G>C p.C128S Missense 4/27 - 1
7-117171064-C-T c.385C>T p.L129F Missense 4/27 - 1
7-117171065-T-A c.386T>A p.L129H Missense 4/27 - 1
7-117171066-T-C c.387T>C p.L129= Synonymous 4/27 - 1
7-117171067-C-G c.388C>G p.L130V Missense 4/27 - 3
7-117171067-C-A c.388C>A p.L130I Missense 4/27 - 2
7-117171067-C-T c.388C>T p.L130F Missense 4/27 - 2
7-117171069-C-T c.390C>T p.L130= Synonymous 4/27 - 2
7-117171069-C-G c.390C>G p.L130= Synonymous 4/27 - 1
7-117171069-C-A c.390C>A p.L130= Synonymous 4/27 - 1
7-117171070-T-C c.391T>C p.F131L Missense 4/27 - 2
7-117171072-T-C c.393T>C p.F131= Synonymous 4/27 - 1
7-117171073-A-G c.394A>G p.I132V Missense 4/27 - 1
7-117171074-T-C c.395T>C p.I132T Missense 4/27 - 2
7-117171074-ATT-A c.395_396del p.I132Sfs*26 Frameshift 4/27 - 1
7-117171079-AG-CA c.400_401delinsCA p.R134Q Missense 4/27 - 2
7-117171079-AG-GA c.400_401delinsGA p.R134E Missense 4/27 - 1
7-117171079-A-G c.400A>G p.R134G Missense 4/27 - 3
7-117171079-A-T c.400A>T p.R134W Missense 4/27 - 1
7-117171079-AG-GC c.400_401delinsGC p.R134A Missense 4/27 - 1
7-117171080-G-A c.401G>A p.R134K Missense 4/27 - 1
7-117171081-G-A c.402G>A p.R134= Synonymous 4/27 - 1
7-117171079-A-C c.400A>C p.R134= Synonymous 4/27 - 1
7-117171082-A-G c.403A>G p.T135A Missense 4/27 - 2
7-117171082-A-T c.403A>T p.T135S Missense 4/27 - 1
7-117171083-C-T c.404C>T p.T135I Missense 4/27 - 1
7-117171084-A-C c.405A>C p.T135= Synonymous 4/27 - 1
7-117171085-C-T c.406C>T p.L136= Synonymous 4/27 - 1
7-117171086-T-C c.407T>C p.L136P Missense 4/27 - 1
7-117171088-C-T c.409C>T p.L137F Missense 4/27 - 2
7-117171088-GC-G c.409del p.L137Sfs*16 Frameshift 4/27 - 1
7-117171089-T-C c.410T>C p.L137P Missense 4/27 - 2
7-117171089-T-A c.410T>A p.L137H Missense 4/27 - 1
7-117171089-CTCCT-C c.410_413del p.L137Hfs*15 Frameshift 4/27 - 1
7-117171091-C-CACT c.412_413insACT p.L137_L138insH InFrameInsertion 4/27 - 2
7-117171090-C-CCTA c.413_415dup p.L138dup InFrameInsertion 4/27 - 2
7-117171092-T-C c.413T>C p.L138P Missense 4/27 - 2
7-117171094-C-CGA c.415_416insGA p.H139Rfs*15 Frameshift 4/27 - 1
7-117171093-A-ACTT c.415_416insTTC p.L138dup InFrameInsertion 4/27 - 2
7-117171095-A-T c.416A>T p.H139L Missense 4/27 - 15
7-117171095-A-C c.416A>C p.H139P Missense 4/27 - 1
7-117171095-A-G c.416A>G p.H139R Missense 4/27 - 9
7-117171096-C-T c.417C>T p.H139= Synonymous 4/27 - 1
7-117171097-C-T c.418C>T p.P140S Missense 4/27 - 5
7-117171098-C-G c.419C>G p.P140R Missense 4/27 - 3
7-117171098-C-T c.419C>T p.P140L Missense 4/27 - 2
7-117171100-G-T c.421G>T p.A141S Missense 4/27 - 1
7-117171100-G-A c.421G>A p.A141T Missense 4/27 - 1
7-117171101-C-A c.422C>A p.A141D Missense 4/27 - 2
7-117171106-TTT-AAG c.427_429delinsAAG p.F143K Missense 4/27 - 1
7-117171109-G-T c.430G>T p.G144C Missense 4/27 - 1
7-117171111-C-T c.432C>T p.G144= Synonymous 4/27 - 1
7-117171113-T-A c.434T>A p.L145H Missense 4/27 - 1
7-117171115-C-T c.436C>T p.H146Y Missense 4/27 - 1
7-117171113-TTCA-T c.438_440del p.H147del InFrameDeletion 4/27 - 1
7-117171118-C-A c.439C>A p.H147N Missense 4/27 - 1
7-117171119-A-C c.440A>C p.H147P Missense 4/27 - 1
7-117171120-C-G c.441C>G p.H147Q Missense 4/27 - 1
7-117171121-CA-C c.442del p.I148Lfs*5 Frameshift 4/27 - 6
7-117171122-T-C c.443T>C p.I148T Missense 4/27 - 62
7-117171122-T-A c.443T>A p.I148N Missense 4/27 - 2
7-117171123-T-G c.444T>G p.I148M Missense 4/27 - 1
7-117171124-G-A c.445G>A p.G149R Missense 4/27 - 5
7-117171124-G-C c.445G>C p.G149R Missense 4/27 - 3
7-117171125-G-A c.446G>A p.G149E Missense 4/27 - 1
7-117171127-A-G c.448A>G p.M150V Missense 4/27 - 1
7-117171129-G-A c.450G>A p.M150I Missense 4/27 - 1
7-117171130-C-A c.451C>A p.Q151K Missense 4/27 - 2
7-117171130-C-T c.451C>T p.Q151* Nonsense 4/27 - 2
7-117171131-A-C c.452A>C p.Q151P Missense 4/27 - 1
7-117171131-A-G c.452A>G p.Q151R Missense 4/27 - 1
7-117171132-G-T c.453G>T p.Q151H Missense 4/27 - 1
7-117171132-G-C c.453G>C p.Q151H Missense 4/27 - 1
7-117171133-A-G c.454A>G p.M152V Missense 4/27 - 6
7-117171133-A-T c.454A>T p.M152L Missense 4/27 - 2
7-117171130-CAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA-C c.454_489del p.M152_K163del InFrameDeletion 4/27 - 1
7-117171135-G-C c.456G>C p.M152I Missense 4/27 - 1
7-117171136-AGA-TGT c.457_459delinsTGT p.R153C Missense 4/27 - 1
7-117171136-AGA-CAT c.457_459delinsCAT p.R153H Missense 4/27 - 1
7-117171137-G-A c.458G>A p.R153K Missense 4/27 - 1
7-117171137-G-T c.458G>T p.R153I Missense 4/27 - 3
7-117171140-T-C c.461T>C p.I154T Missense 4/27 - 2
7-117171139-A-AT c.461dup p.A155Sfs*4 Frameshift 4/27 - 1
7-117171142-G-T c.463G>T p.A155S Missense 4/27 - 1
7-117171145-A-G c.466A>G p.M156V Missense 4/27 - 3
7-117171146-T-G c.467T>G p.M156R Missense 4/27 - 3
7-117171147-G-A c.468G>A p.M156I Missense 4/27 - 1
7-117171149-T-G c.470T>G p.F157C Missense 4/27 - 2
7-117171150-T-TA c.472dup p.S158Kfs*5 Frameshift 4/27 - 2
7-117171151-A-C c.472A>C p.S158R Missense 4/27 - 2
7-117171151-A-G c.472A>G p.S158G Missense 4/27 - 2
7-117171151-A-T c.472A>T p.S158C Missense 4/27 - 1
7-117171151-AGT-GAG c.472_474delinsGAG p.S158E Missense 4/27 - 1
7-117171152-AG-A c.473del p.S158Ifs*2 Frameshift 4/27 - 1
7-117171152-G-A c.473G>A p.S158N Missense 4/27 - 5
7-117171152-G-C c.473G>C p.S158T Missense 4/27 - 7
7-117171153-T-C c.474T>C p.S158= Synonymous 4/27 - 1
7-117171154-T-C c.475T>C p.L159= Synonymous 4/27 - 2
7-117171155-T-A c.476T>A p.L159* Nonsense 4/27 - 1
7-117171155-T-C c.476T>C p.L159S Missense 4/27 - 2
7-117171157-A-G c.478A>G p.I160V Missense 4/27 - 1
7-117171160-T-G c.481T>G p.Y161D Missense 4/27 - 2
7-117171161-A-C c.482A>C p.Y161S Missense 4/27 - 3
7-117171161-A-G c.482A>G p.Y161C Missense 4/27 - 5
7-117171161-TA-T c.482del p.Y161Lfs*5 Frameshift 4/27 - 1
7-117171163-A-T c.484A>T p.K162* Nonsense 4/27 - 1
7-117171165-G-T c.486G>T p.K162N Missense 4/27 - 1
7-117171166-A-G c.487A>G p.K163E Missense 4/27 - 1
7-117171169-G-T c.489+1G>T - IntronicSNV - 4/26 39
7-117171171-A-G c.489+3A>G - IntronicSNV - 4/26 3
7-117171259-A-C c.489+91A>C - IntronicSNV - 4/26 1
7-117171259-A-G c.489+91A>G - IntronicSNV - 4/26 1
7-117172221-G-A c.489+1053G>A - IntronicSNV - 4/26 1
7-117172340-A-G c.489+1172A>G - IntronicSNV - 4/26 1
7-117174328-A-G c.490-2A>G - IntronicSNV - 4/26 1
7-117174330-A-G c.490A>G p.T164A Missense 5/27 - 1
7-117174334-T-C c.494T>C p.L165S Missense 5/27 - 4
7-117174334-T-A c.494T>A p.L165* Nonsense 5/27 - 1
7-117174335-A-T c.495A>T p.L165F Missense 5/27 - 1
7-117174335-A-C c.495A>C p.L165F Missense 5/27 - 1
7-117174336-A-G c.496A>G p.K166E Missense 5/27 - 1
7-117174340-T-C c.500T>C p.L167P Missense 5/27 - 1
7-117174340-T-G c.500T>G p.L167R Missense 5/27 - 1
7-117174342-TC-AG c.502_503delinsAG p.S168R Missense 5/27 - 2
7-117174343-C-T c.503C>T p.S168L Missense 5/27 - 2
7-117174348-C-A c.508C>A p.R170S Missense 5/27 - 1
7-117174348-C-T c.508C>T p.R170C Missense 5/27 - 5
7-117174348-C-G c.508C>G p.R170G Missense 5/27 - 7
7-117174349-G-A c.509G>A p.R170H Missense 5/27 - 21
7-117174349-G-T c.509G>T p.R170L Missense 5/27 - 1
7-117174350-T-A c.510T>A p.R170= Synonymous 5/27 - 1
7-117174351-G-A c.511G>A p.V171I Missense 5/27 - 1
7-117174351-G-T c.511G>T p.V171F Missense 5/27 - 1
7-117174351-GT-TG c.511_512delinsTG p.V171C Missense 5/27 - 1
7-117174354-C-A c.514C>A p.L172I Missense 5/27 - 1
7-117174354-CTA-TGT c.514_516delinsTGT p.L172C Missense 5/27 - 1
7-117174355-T-C c.515T>C p.L172P Missense 5/27 - 1
7-117174356-A-G c.516A>G p.L172= Synonymous 5/27 - 1
7-117174357-G-A c.517G>A p.D173N Missense 5/27 - 1
7-117174357-GA-CG c.517_518delinsCG p.D173R Missense 5/27 - 1
7-117174357-G-C c.517G>C p.D173H Missense 5/27 - 1
7-117174360-AA-GC c.520_521delinsGC p.K174A Missense 5/27 - 1
7-117174363-A-G c.523A>G p.I175V Missense 5/27 - 4
7-117174360-AAAATAAGTATTGGACAACTTGTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATG-A c.523_579del p.I175_E193del InFrameDeletion 5/27 - 1
7-117174366-A-C c.526A>C p.S176R Missense 5/27 - 1
7-117174367-G-A c.527G>A p.S176N Missense 5/27 - 2
7-117174367-G-C c.527G>C p.S176T Missense 5/27 - 1
7-117174369-A-G c.529A>G p.I177V Missense 5/27 - 1
7-117174369-A-T c.529A>T p.I177F Missense 5/27 - 1
7-117174370-T-C c.530T>C p.I177T Missense 5/27 - 1
7-117174371-T-G c.531T>G p.I177M Missense 5/27 - 1
7-117174369-A-AT c.531dup p.G178Wfs*5 Frameshift 5/27 - 1
7-117174369-AT-A c.531del p.I177Mfs*12 Frameshift 5/27 - 4
7-117174372-G-A c.532G>A p.G178R Missense 5/27 - 116
7-117174372-G-C c.532G>C p.G178R Missense 5/27 - 56
7-117174372-G-T c.532G>T p.G178* Nonsense 5/27 - 1
7-117174373-G-A c.533G>A p.G178E Missense 5/27 - 2
7-117174375-C-A c.535C>A p.Q179K Missense 5/27 - 7
7-117174375-C-T c.535C>T p.Q179* Nonsense 5/27 - 3
7-117174375-CA-GC c.535_536delinsGC p.Q179A Missense 5/27 - 1
7-117174377-A-G c.537A>G p.Q179= Synonymous 5/27 - 1
7-117174377-A-T c.537A>T p.Q179H Missense 5/27 - 1
7-117174377-A-C c.537A>C p.Q179H Missense 5/27 - 1
7-117174378-C-G c.538C>G p.L180V Missense 5/27 - 2
7-117174384-A-G c.544A>G p.S182G Missense 5/27 - 1
7-117174384-AG-GC c.544_545delinsGC p.S182A Missense 5/27 - 1
7-117174387-C-A c.547C>A p.L183I Missense 5/27 - 3
7-117174387-C-T c.547C>T p.L183F Missense 5/27 - 2
7-117174388-T-C c.548T>C p.L183P Missense 5/27 - 2
7-117174389-C-T c.549C>T p.L183= Synonymous 5/27 - 2
7-117174389-C-G c.549C>G p.L183= Synonymous 5/27 - 1
7-117174389-C-A c.549C>A p.L183= Synonymous 5/27 - 1
7-117174390-C-T c.550C>T p.L184F Missense 5/27 - 1
7-117174396-AA-TG c.556_557delinsTG p.N186C Missense 5/27 - 1
7-117174398-C-G c.558C>G p.N186K Missense 5/27 - 7
7-117174403-T-C c.563T>C p.L188P Missense 5/27 - 2
7-117174403-T-A c.563T>A p.L188Q Missense 5/27 - 1
7-117174407-C-A c.567C>A p.N189K Missense 5/27 - 4
7-117174408-AAA-TGT c.568_570delinsTGT p.K190C Missense 5/27 - 7
7-117174408-A-G c.568A>G p.K190E Missense 5/27 - 1
7-117174408-AA-GC c.568_569delinsGC p.K190A Missense 5/27 - 1
7-117174408-A-C c.568A>C p.K190Q Missense 5/27 - 1
7-117174411-T-G c.571T>G p.F191V Missense 5/27 - 3
7-117174411-T-C c.571T>C p.F191L Missense 5/27 - 1
7-117174413-T-A c.573T>A p.F191L Missense 5/27 - 1
7-117174413-T-G c.573T>G p.F191L Missense 5/27 - 1
7-117174411-TT-GC c.571_572delinsGC p.F191A Missense 5/27 - 1
7-117174414-GA-AG c.574_575delinsAG p.D192S Missense 5/27 - 1
7-117174415-A-G c.575A>G p.D192G Missense 5/27 - 8
7-117174417-G-A c.577G>A p.E193K Missense 5/27 - 32
7-117174417-G-T c.577G>T p.E193* Nonsense 5/27 - 5
7-117174418-A-G c.578A>G p.E193G Missense 5/27 - 1
7-117174420-G-T c.579+1G>T - IntronicSNV - 5/26 22
7-117174420-G-A c.579+1G>A - IntronicSNV - 5/26 2
7-117174422-A-G c.579+3A>G - IntronicSNV - 5/26 10
7-117174422-A-C c.579+3A>C - IntronicSNV - 5/26 2
7-117174422-A-T c.579+3A>T - IntronicSNV - 5/26 2
7-117174423-T-C c.579+4T>C - IntronicSNV - 5/26 1
7-117174424-G-A c.579+5G>A - IntronicSNV - 5/26 8
7-117174422-ATG-A c.579+5_579+6del - IntronicDeletion - 5/26 1
7-117175301-G-A c.580-1G>A - IntronicSNV - 5/26 3
7-117175301-G-T c.580-1G>T - IntronicSNV - 5/26 3
7-117175302-G-T c.580G>T p.G194* Nonsense 6/27 - 2
7-117175302-G-A c.580G>A p.G194R Missense 6/27 - 2
7-117175302-G-C c.580G>C p.G194R Missense 6/27 - 1
7-117175303-G-T c.581G>T p.G194V Missense 6/27 - 3
7-117175303-G-A c.581G>A p.G194E Missense 6/27 - 1
7-117175303-GA-AC c.581_582delinsAC p.G194D Missense 6/27 - 1
7-117175304-A-G c.582A>G p.G194= Synonymous 6/27 - 1
7-117175304-A-T c.582A>T p.G194= Synonymous 6/27 - 1
7-117175309-C-T c.587C>T p.A196V Missense 6/27 - 1
7-117175310-A-G c.588A>G p.A196= Synonymous 6/27 - 1
7-117175310-A-C c.588A>C p.A196= Synonymous 6/27 - 1
7-117175311-T-C c.589T>C p.L197= Synonymous 6/27 - 2
7-117175313-G-A c.591G>A p.L197= Synonymous 6/27 - 1
7-117175314-G-A c.592G>A p.A198T Missense 6/27 - 2
7-117175314-G-C c.592G>C p.A198P Missense 6/27 - 5
7-117175315-C-T c.593C>T p.A198V Missense 6/27 - 1
7-117175316-A-C c.594A>C p.A198= Synonymous 6/27 - 1
7-117175316-A-G c.594A>G p.A198= Synonymous 6/27 - 1
7-117175317-C-T c.595C>T p.H199Y Missense 6/27 - 20
7-117175318-A-G c.596A>G p.H199R Missense 6/27 - 7
7-117175319-T-A c.597T>A p.H199Q Missense 6/27 - 1
7-117175319-T-G c.597T>G p.H199Q Missense 6/27 - 1
7-117175320-T-A c.598T>A p.F200I Missense 6/27 - 1
7-117175320-T-C c.598T>C p.F200L Missense 6/27 - 1
7-117175322-C-A c.600C>A p.F200L Missense 6/27 - 1
7-117175322-C-T c.600C>T p.F200= Synonymous 6/27 - 1
7-117175323-G-A c.601G>A p.V201M Missense 6/27 - 26
7-117175323-GTG-ATC c.601_603delinsATC p.V201I Missense 6/27 - 1
7-117175327-G-C c.605G>C p.W202S Missense 6/27 - 1
7-117175327-G-A c.605G>A p.W202* Nonsense 6/27 - 1
7-117175327-TGGATCGCTC-T c.605_613del p.W202_P205delinsS MultiAAMissense 6/27 - 1
7-117175331-C-G c.609C>G p.I203M Missense 6/27 - 1
7-117175331-C-T c.609C>T p.I203= Synonymous 6/27 - 2
7-117175331-C-A c.609C>A p.I203= Synonymous 6/27 - 1
7-117175332-G-A c.610G>A p.A204T Missense 6/27 - 2
7-117175332-G-T c.610G>T p.A204S Missense 6/27 - 1
7-117175332-GC-CT c.610_611delinsCT p.A204L Missense 6/27 - 1
7-117175334-T-G c.612T>G p.A204= Synonymous 6/27 - 1
7-117175334-T-C c.612T>C p.A204= Synonymous 6/27 - 1
7-117175335-C-A c.613C>A p.P205T Missense 6/27 - 4
7-117175335-C-T c.613C>T p.P205S Missense 6/27 - 36
7-117175335-C-G c.613C>G p.P205A Missense 6/27 - 1
7-117175336-C-G c.614C>G p.P205R Missense 6/27 - 1
7-117175336-C-T c.614C>T p.P205L Missense 6/27 - 1
7-117175338-TT-CC c.616_617delinsCC p.L206P Missense 6/27 - 1
7-117175339-T-G c.617T>G p.L206W Missense 6/27 - 74
7-117175341-C-T c.619C>T p.Q207* Nonsense 6/27 - 1
7-117175343-A-C c.621A>C p.Q207H Missense 6/27 - 1
7-117175345-T-C c.623T>C p.V208A Missense 6/27 - 1
7-117175347-G-T c.625G>T p.A209S Missense 6/27 - 1
7-117175348-C-T c.626C>T p.A209V Missense 6/27 - 1
7-117175349-A-G c.627A>G p.A209= Synonymous 6/27 - 1
7-117175350-C-T c.628C>T p.L210F Missense 6/27 - 1
7-117175351-T-C c.629T>C p.L210P Missense 6/27 - 1
7-117175352-C-T c.630C>T p.L210= Synonymous 6/27 - 1
7-117175352-C-G c.630C>G p.L210= Synonymous 6/27 - 1
7-117175352-C-A c.630C>A p.L210= Synonymous 6/27 - 1
7-117175355-C-T c.633C>T p.L211= Synonymous 6/27 - 1
7-117175355-C-G c.633C>G p.L211= Synonymous 6/27 - 1
7-117175355-C-A c.633C>A p.L211= Synonymous 6/27 - 1
7-117175356-A-G c.634A>G p.M212V Missense 6/27 - 1
7-117175360-G-A c.638G>A p.G213E Missense 6/27 - 1
7-117175361-G-A c.639G>A p.G213= Synonymous 6/27 - 1
7-117175362-C-G c.640C>G p.L214V Missense 6/27 - 3
7-117175362-C-T c.640C>T p.L214= Synonymous 6/27 - 1
7-117175364-A-G c.642A>G p.L214= Synonymous 6/27 - 1
7-117175364-A-AT c.642_643insT p.I215Yfs*43 Frameshift 6/27 - 1
7-117175369-G-A c.647G>A p.W216* Nonsense 6/27 - 2
7-117175370-G-A c.648G>A p.W216* Nonsense 6/27 - 5
7-117175370-G-T c.648G>T p.W216C Missense 6/27 - 2
7-117175371-G-A c.649G>A p.E217K Missense 6/27 - 1
7-117175371-GAG-TGT c.649_651delinsTGT p.E217C Missense 6/27 - 1
7-117175371-GAG-TTT c.649_651delinsTTT p.E217F Missense 6/27 - 1
7-117175371-GA-TC c.649_650inv p.E217S Missense 6/27 - 1
7-117175372-A-G c.650A>G p.E217G Missense 6/27 - 28
7-117175372-A-T c.650A>T p.E217V Missense 6/27 - 1
7-117175372-GAGTTGTTACA-G c.650_659del p.E217Gfs*11 Frameshift 6/27 - 1
7-117175373-G-A c.651G>A p.E217= Synonymous 6/27 - 1
7-117175375-T-A c.653T>A p.L218* Nonsense 6/27 - 6
7-117175380-C-T c.658C>T p.Q220* Nonsense 6/27 - 19
7-117175380-CA-TG c.658_659inv p.Q220W Missense 6/27 - 2
7-117175381-A-G c.659A>G p.Q220R Missense 6/27 - 3
7-117175381-A-C c.659A>C p.Q220P Missense 6/27 - 1
7-117175382-G-A c.660G>A p.Q220= Synonymous 6/27 - 1
7-117175384-C-T c.662C>T p.A221V Missense 6/27 - 2
7-117175385-G-A c.663G>A p.A221= Synonymous 6/27 - 2
7-117175385-G-C c.663G>C p.A221= Synonymous 6/27 - 1
7-117175385-G-T c.663G>T p.A221= Synonymous 6/27 - 1
7-117175388-T-C c.666T>C p.S222= Synonymous 6/27 - 1
7-117175394-C-G c.672C>G p.F224L Missense 6/27 - 1
7-117175395-T-A c.673T>A p.C225S Missense 6/27 - 3
7-117175396-G-C c.674G>C p.C225S Missense 6/27 - 3
7-117175396-G-A c.674G>A p.C225Y Missense 6/27 - 1
7-117175397-T-A c.675T>A p.C225* Nonsense 6/27 - 2
7-117175399-G-A c.677G>A p.G226E Missense 6/27 - 1
7-117175399-G-T c.677G>T p.G226V Missense 6/27 - 1
7-117175402-T-G c.680T>G p.L227R Missense 6/27 - 7
7-117175404-GG-CT c.682_683delinsCT p.G228L Missense 6/27 - 2
7-117175406-T-C c.684T>C p.G228= Synonymous 6/27 - 1
7-117175407-TT-GC c.685_686delinsGC p.F229A Missense 6/27 - 1
7-117175407-T-C c.685T>C p.F229L Missense 6/27 - 1
7-117175409-C-A c.687C>A p.F229L Missense 6/27 - 1
7-117175409-C-G c.687C>G p.F229L Missense 6/27 - 1
7-117175408-T-A c.686T>A p.F229Y Missense 6/27 - 1
7-117175409-C-T c.687C>T p.F229= Synonymous 6/27 - 1
7-117175412-G-T c.690G>T p.L230= Synonymous 6/27 - 1
7-117175412-G-A c.690G>A p.L230= Synonymous 6/27 - 1
7-117175412-G-C c.690G>C p.L230= Synonymous 6/27 - 1
7-117175410-C-T c.688C>T p.L230= Synonymous 6/27 - 1
7-117175416-GTC-AAG c.694_696delinsAAG p.V232K Missense 6/27 - 2
7-117175417-T-A c.695T>A p.V232D Missense 6/27 - 35
7-117175417-T-C c.695T>C p.V232A Missense 6/27 - 1
7-117175419-C-G c.697C>G p.L233V Missense 6/27 - 1
7-117175419-C-T c.697C>T p.L233F Missense 6/27 - 1
7-117175420-T-C c.698T>C p.L233P Missense 6/27 - 1
7-117175422-G-T c.700G>T p.A234S Missense 6/27 - 1
7-117175423-C-A c.701C>A p.A234D Missense 6/27 - 2
7-117175423-C-T c.701C>T p.A234V Missense 6/27 - 1
7-117175426-T-C c.704T>C p.L235P Missense 6/27 - 1
7-117175426-T-G c.704T>G p.L235R Missense 6/27 - 1
7-117175427-T-C c.705T>C p.L235= Synonymous 6/27 - 1
7-117175427-T-G c.705T>G p.L235= Synonymous 6/27 - 1
7-117175428-TT-GC c.706_707delinsGC p.F236A Missense 6/27 - 1
7-117175429-T-C c.707T>C p.F236S Missense 6/27 - 1
7-117175431-C-G c.709C>G p.Q237E Missense 6/27 - 6
7-117175431-C-T c.709C>T p.Q237* Nonsense 6/27 - 1
7-117175431-CA-GC c.709_710delinsGC p.Q237A Missense 6/27 - 1
7-117175433-G-A c.711G>A p.Q237= Synonymous 6/27 - 1
7-117175433-G-C c.711G>C p.Q237H Missense 6/27 - 2
7-117175433-G-T c.711G>T p.Q237H Missense 6/27 - 1
7-117175434-G-C c.712G>C p.A238P Missense 6/27 - 2
7-117175435-C-T c.713C>T p.A238V Missense 6/27 - 4
7-117175437-G-A c.715G>A p.G239R Missense 6/27 - 2
7-117175437-G-C c.715G>C p.G239R Missense 6/27 - 1
7-117175439-G-C c.717G>C p.G239= Synonymous 6/27 - 1
7-117175440-C-G c.718C>G p.L240V Missense 6/27 - 1
7-117175442-A-G c.720A>G p.L240= Synonymous 6/27 - 1
7-117175442-TAGGGAGAATGATGATGAAGTACA-T c.720_742del p.G241Rfs*9 SpliceDonorDeletion 6/27 - 1
7-117175443-G-A c.721G>A p.G241R Missense 6/27 - 2
7-117175443-G-T c.721G>T p.G241W Missense 6/27 - 2
7-117175444-G-A c.722G>A p.G241E Missense 6/27 - 1
7-117175446-AG-GA c.724_725delinsGA p.R242E Missense 6/27 - 1
7-117175447-G-A c.725G>A p.R242K Missense 6/27 - 1
7-117175449-A-G c.727A>G p.M243V Missense 6/27 - 1
7-117175450-T-C c.728T>C p.M243T Missense 6/27 - 1
7-117175451-G-C c.729G>C p.M243I Missense 6/27 - 1
7-117175451-G-A c.729G>A p.M243I Missense 6/27 - 1
7-117175451-G-T c.729G>T p.M243I Missense 6/27 - 1
7-117175452-A-G c.730A>G p.M244V Missense 6/27 - 1
7-117175454-G-C c.732G>C p.M244I Missense 6/27 - 1
7-117175459-A-C c.737A>C p.K246T Missense 6/27 - 1
7-117175460-G-A c.738G>A p.K246= Synonymous 6/27 - 4
7-117175462-A-T c.740A>T p.Y247F Missense 6/27 - 1
7-117175464-A-G c.742A>G p.R248G Missense 6/27 - 2
7-117175464-AG-CA c.742_743delinsCA p.R248Q Missense 6/27 - 2
7-117175464-A-T c.742A>T p.R248* Nonsense 6/27 - 2
7-117175465-G-A c.743G>A p.R248K Missense 6/27 - 1
7-117175465-G-C c.743G>C p.R248T Missense 6/27 - 4
7-117175466-G-A c.743+1G>A - IntronicSNV - 6/26 2
7-117175466-G-C c.743+1G>C - IntronicSNV - 6/26 1
7-117175473-C-T c.743+8C>T - IntronicSNV - 6/26 1
7-117175505-A-G c.743+40A>G - IntronicSNV - 6/26 4
7-117175713-G-A c.743+248G>A - IntronicSNV - 6/26 1
7-117176587-T-C c.744-15T>C - IntronicSNV - 6/26 1
7-117176602-GAGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTGATTACCTCAGAAATGATTGAAA-G c.745_803del p.D249Yfs*5 SpliceAcceptorDeletion 7/27 - 2
7-117176602-GA-G c.744del p.D249Ifs*12 Frameshift 7/27 - 1
7-117176603-G-T c.745G>T p.D249Y Missense 7/27 - 1
7-117176604-A-C c.746A>C p.D249A Missense 7/27 - 1
7-117176607-A-G c.749A>G p.Q250R Missense 7/27 - 1
7-117176609-AGA-TGG c.751_753delinsTGG p.R251W Missense 7/27 - 1
7-117176609-AGA-TGT c.751_753delinsTGT p.R251C Missense 7/27 - 1
7-117176606-CAG-C c.753_754del p.R251Sfs*6 Frameshift 7/27 - 1
7-117176612-G-A c.754G>A p.A252T Missense 7/27 - 1
7-117176612-G-C c.754G>C p.A252P Missense 7/27 - 1
7-117176612-G-T c.754G>T p.A252S Missense 7/27 - 1
7-117176615-G-A c.757G>A p.G253R Missense 7/27 - 2
7-117176618-A-G c.760A>G p.K254E Missense 7/27 - 1
7-117176618-AAG-TGT c.760_762delinsTGT p.K254C Missense 7/27 - 1
7-117176619-A-G c.761A>G p.K254R Missense 7/27 - 1
7-117176617-GA-G c.761del p.K254Rfs*7 Frameshift 7/27 - 1
7-117176621-A-G c.763A>G p.I255V Missense 7/27 - 1
7-117176622-T-A c.764T>A p.I255N Missense 7/27 - 2
7-117176622-AT-A c.764del p.I255Tfs*6 Frameshift 7/27 - 1
7-117176623-C-T c.765C>T p.I255= Synonymous 7/27 - 1
7-117176624-A-G c.766A>G p.S256G Missense 7/27 - 1
7-117176625-G-A c.767G>A p.S256N Missense 7/27 - 1
7-117176626-T-C c.768T>C p.S256= Synonymous 7/27 - 1
7-117176627-G-T c.769G>T p.E257* Nonsense 7/27 - 1
7-117176628-A-C c.770A>C p.E257A Missense 7/27 - 1
7-117176630-A-G c.772A>G p.R258G Missense 7/27 - 12
7-117176631-G-T c.773G>T p.R258I Missense 7/27 - 1
7-117176632-A-T c.774A>T p.R258S Missense 7/27 - 1
7-117176633-C-G c.775C>G p.L259V Missense 7/27 - 1
7-117176633-C-T c.775C>T p.L259F Missense 7/27 - 1
7-117176636-G-A c.778G>A p.V260M Missense 7/27 - 1
7-117176636-GT-AG c.778_779delinsAG p.V260R Missense 7/27 - 1
7-117176636-GT-CC c.778_779delinsCC p.V260P Missense 7/27 - 1
7-117176636-GTG-ATC c.778_780delinsATC p.V260I Missense 7/27 - 1
7-117176637-T-C c.779T>C p.V260A Missense 7/27 - 2
7-117176637-T-G c.779T>G p.V260G Missense 7/27 - 1
7-117176637-TG-AC c.779_780delinsAC p.V260D Missense 7/27 - 1
7-117176645-T-G c.787T>G p.S263A Missense 7/27 - 1
7-117176648-G-A c.790G>A p.E264K Missense 7/27 - 1
7-117176649-A-T c.791A>T p.E264V Missense 7/27 - 9
7-117176651-A-G c.793A>G p.M265V Missense 7/27 - 1
7-117176652-T-G c.794T>G p.M265R Missense 7/27 - 3
7-117176654-A-G c.796A>G p.I266V Missense 7/27 - 1
7-117176657-GA-AG c.799_800delinsAG p.E267R Missense 7/27 - 2
7-117176657-GAA-TGT c.799_801delinsTGT p.E267C Missense 7/27 - 1
7-117176657-G-A c.799G>A p.E267K Missense 7/27 - 2
7-117176658-A-G c.800A>G p.E267G Missense 7/27 - 1
7-117176658-A-C c.800A>C p.E267A Missense 7/27 - 1
7-117176659-A-G c.801A>G p.E267= Synonymous 7/27 - 1
7-117176660-AA-TG c.802_803delinsTG p.N268C Missense 7/27 - 2
7-117176657-GA-G c.803del p.N268Ifs*17 Frameshift 7/27 - 4
7-117176660-AAT-A c.805_806del p.I269Pfs*4 Frameshift 7/27 - 1
7-117176664-T-C c.806T>C p.I269T Missense 7/27 - 3
7-117176665-C-A c.807C>A p.I269= Synonymous 7/27 - 1
7-117176665-C-T c.807C>T p.I269= Synonymous 7/27 - 1
7-117176666-C-G c.808C>G p.Q270E Missense 7/27 - 2
7-117176668-A-G c.810A>G p.Q270= Synonymous 7/27 - 2
7-117176670-C-T c.812C>T p.S271F Missense 7/27 - 1
7-117176670-C-G c.812C>G p.S271C Missense 7/27 - 1
7-117176673-T-C c.815T>C p.V272A Missense 7/27 - 2
7-117176675-A-C c.817A>C p.K273Q Missense 7/27 - 1
7-117176676-A-T c.818A>T p.K273M Missense 7/27 - 1
7-117176678-GCA-TGT c.820_822delinsTGT p.A274C Missense 7/27 - 1
7-117176683-C-A c.825C>A p.Y275* Nonsense 7/27 - 1
7-117176683-C-G c.825C>G p.Y275* Nonsense 7/27 - 1
7-117176684-T-A c.826T>A p.C276S Missense 7/27 - 3
7-117176685-G-C c.827G>C p.C276S Missense 7/27 - 3
7-117176685-G-T c.827G>T p.C276F Missense 7/27 - 1
7-117176686-C-A c.828C>A p.C276* Nonsense 7/27 - 7
7-117176686-C-T c.828C>T p.C276= Synonymous 7/27 - 2
7-117176687-T-A c.829T>A p.W277R Missense 7/27 - 1
7-117176687-T-C c.829T>C p.W277R Missense 7/27 - 1
7-117176688-G-A c.830G>A p.W277* Nonsense 7/27 - 1
7-117176689-G-A c.831G>A p.W277* Nonsense 7/27 - 1
7-117176693-G-A c.835G>A p.E279K Missense 7/27 - 1
7-117176695-A-T c.837A>T p.E279D Missense 7/27 - 1
7-117176696-G-T c.838G>T p.A280S Missense 7/27 - 1
7-117176696-AG-A c.838del p.A280Qfs*5 Frameshift 7/27 - 1
7-117176697-C-T c.839C>T p.A280V Missense 7/27 - 1
7-117176699-A-G c.841A>G p.M281V Missense 7/27 - 2
7-117176700-T-C c.842T>C p.M281T Missense 7/27 - 2
7-117176702-G-C c.844G>C p.E282Q Missense 7/27 - 1
7-117176704-A-G c.846A>G p.E282= Synonymous 7/27 - 2
7-117176704-A-T c.846A>T p.E282D Missense 7/27 - 3
7-117176706-A-G c.848A>G p.K283R Missense 7/27 - 1
7-117176702-G-GA c.850dup p.M284Nfs*3 Frameshift 7/27 - 2
7-117176708-AT-TA c.850_851delinsTA p.M284* Nonsense 7/27 - 1
7-117176709-T-C c.851T>C p.M284T Missense 7/27 - 1
7-117176710-G-C c.852G>C p.M284I Missense 7/27 - 1
7-117176710-G-A c.852G>A p.M284I Missense 7/27 - 1
7-117176710-G-T c.852G>T p.M284I Missense 7/27 - 1
7-117176711-A-T c.853A>T p.I285F Missense 7/27 - 6
7-117176712-T-C c.854T>C p.I285T Missense 7/27 - 1
7-117176713-T-C c.855T>C p.I285= Synonymous 7/27 - 1
7-117176717-A-T c.859A>T p.N287Y Missense 7/27 - 15
7-117176718-A-G c.860A>G p.N287S Missense 7/27 - 1
7-117176714-GA-G c.860del p.N287Tfs*2 Frameshift 7/27 - 1
7-117176714-G-GA c.860dup p.N287Kfs*21 Frameshift 7/27 - 2
7-117176719-C-G c.861C>G p.N287K Missense 7/27 - 5
7-117176716-AAACTT-A c.861_865del p.N287Kfs*19 Frameshift 7/27 - 1
7-117176719-C-A c.861C>A p.N287K Missense 7/27 - 1
7-117176723-A-T c.865A>T p.R289* Nonsense 7/27 - 4
7-117176723-AGA-TGT c.865_867delinsTGT p.R289C Missense 7/27 - 1
7-117176726-C-T c.868C>T p.Q290* Nonsense 7/27 - 7
7-117176727-A-G c.869A>G p.Q290R Missense 7/27 - 1
7-117176727-A-AAACAGAACTGAAACTGACTC c.869_869+1insAACAGAACTGAAACTGACTC p.R297Qfs*4 SpliceDonorInsertion - - 1
7-117176729-T-G c.869+2T>G - IntronicSNV - 7/26 1
7-117176732-G-A c.869+5G>A - IntronicSNV - 7/26 2
7-117176738-C-T c.869+11C>T - IntronicSNV - 7/26 6
7-117176741-A-G c.869+14A>G - IntronicSNV - 7/26 1
7-117177013-G-A c.869+286G>A - IntronicSNV - 7/26 1
7-117178754-A-G c.870-1400A>G - IntronicSNV - 7/26 1
7-117178929-G-A c.870-1225G>A - IntronicSNV - 7/26 1
7-117179059-A-C c.870-1095A>C - IntronicSNV - 7/26 1
7-117179059-A-G c.870-1095A>G - IntronicSNV - 7/26 1
7-117180155-A-G c.871A>G p.T291A Missense 8/27 - 1
7-117180156-C-G c.872C>G p.T291R Missense 8/27 - 1
7-117180156-C-T c.872C>T p.T291I Missense 8/27 - 2
7-117180157-A-C c.873A>C p.T291= Synonymous 8/27 - 1
7-117180158-G-T c.874G>T p.E292* Nonsense 8/27 - 1
7-117180158-G-A c.874G>A p.E292K Missense 8/27 - 1
7-117180159-A-T c.875A>T p.E292V Missense 8/27 - 1
7-117180161-C-A c.877C>A p.L293M Missense 8/27 - 1
7-117180164-A-T c.880A>T p.K294* Nonsense 8/27 - 1
7-117180164-AAA-TGT c.880_882delinsTGT p.K294C Missense 8/27 - 1
7-117180167-CTG-TGT c.883_885delinsTGT p.L295C Missense 8/27 - 1
7-117180173-CGG-TGT c.889_891delinsTGT p.R297C Missense 8/27 - 1
7-117180173-C-A c.889C>A p.R297= Synonymous 8/27 - 2
7-117180173-C-T c.889C>T p.R297W Missense 8/27 - 4
7-117180174-G-A c.890G>A p.R297Q Missense 8/27 - 10
7-117180176-AAG-TGT c.892_894delinsTGT p.K298C Missense 8/27 - 1
7-117180178-G-A c.894G>A p.K298= Synonymous 8/27 - 1
7-117180179-G-A c.895G>A p.A299T Missense 8/27 - 1
7-117180179-GC-AG c.895_896delinsAG p.A299R Missense 8/27 - 1
7-117180179-GCA-TGT c.895_897delinsTGT p.A299C Missense 8/27 - 1
7-117180182-G-A c.898G>A p.A300T Missense 8/27 - 1
7-117180183-C-T c.899C>T p.A300V Missense 8/27 - 1
7-117180183-C-G c.899C>G p.A300G Missense 8/27 - 2
7-117180184-C-A c.900C>A p.A300= Synonymous 8/27 - 1
7-117180185-T-C c.901T>C p.Y301H Missense 8/27 - 1
7-117180186-A-G c.902A>G p.Y301C Missense 8/27 - 8
7-117180191-AGA-TGT c.907_909delinsTGT p.R303C Missense 8/27 - 8
7-117180191-AG-CA c.907_908delinsCA p.R303Q Missense 8/27 - 4
7-117180191-AG-GA c.907_908delinsGA p.R303E Missense 8/27 - 2
7-117180192-G-A c.908G>A p.R303K Missense 8/27 - 1
7-117180194-TA-GC c.910_911delinsGC p.Y304A Missense 8/27 - 3
7-117180194-TA-AC c.910_911delinsAC p.Y304T Missense 8/27 - 1
7-117180193-A-ATAC c.911_913dup p.Y304dup InFrameInsertion 8/27 - 1
7-117180195-A-T c.911A>T p.Y304F Missense 8/27 - 1
7-117180195-A-G c.911A>G p.Y304C Missense 8/27 - 1
7-117180196-C-G c.912C>G p.Y304* Nonsense 8/27 - 1
7-117180196-C-T c.912C>T p.Y304= Synonymous 8/27 - 1
7-117180197-T-G c.913T>G p.F305V Missense 8/27 - 2
7-117180197-T-A c.913T>A p.F305I Missense 8/27 - 1
7-117180199-C-T c.915C>T p.F305= Synonymous 8/27 - 2
7-117180199-C-A c.915C>A p.F305L Missense 8/27 - 1
7-117180200-AA-TG c.916_917delinsTG p.N306C Missense 8/27 - 2
7-117180200-AAT-GAG c.916_918delinsGAG p.N306E Missense 8/27 - 2
7-117180200-A-G c.916A>G p.N306D Missense 8/27 - 3
7-117180201-A-G c.917A>G p.N306S Missense 8/27 - 3
7-117180201-AT-GG c.917_918delinsGG p.N306R Missense 8/27 - 1
7-117180202-T-C c.918T>C p.N306= Synonymous 8/27 - 1
7-117180203-A-T c.919A>T p.S307C Missense 8/27 - 2
7-117180204-G-A c.920G>A p.S307N Missense 8/27 - 3
7-117180205-C-T c.921C>T p.S307= Synonymous 8/27 - 1
7-117180205-C-G c.921C>G p.S307R Missense 8/27 - 1
7-117180205-C-A c.921C>A p.S307R Missense 8/27 - 1
7-117180203-A-C c.919A>C p.S307R Missense 8/27 - 1
7-117180206-T-G c.922T>G p.S308A Missense 8/27 - 1
7-117180209-GCC-CAA c.925_927delinsCAA p.A309Q Missense 8/27 - 1
7-117180209-G-A c.925G>A p.A309T Missense 8/27 - 2
7-117180209-G-T c.925G>T p.A309S Missense 8/27 - 1
7-117180210-C-G c.926C>G p.A309G Missense 8/27 - 4
7-117180210-C-A c.926C>A p.A309D Missense 8/27 - 1
7-117180210-C-T c.926C>T p.A309V Missense 8/27 - 1
7-117180211-C-A c.927C>A p.A309= Synonymous 8/27 - 3
7-117180211-C-G c.927C>G p.A309= Synonymous 8/27 - 4
7-117180211-C-T c.927C>T p.A309= Synonymous 8/27 - 4
7-117180212-TT-CG c.928_929delinsCG p.F310R Missense 8/27 - 1
7-117180213-T-G c.929T>G p.F310C Missense 8/27 - 2
7-117180214-C-G c.930C>G p.F310L Missense 8/27 - 1
7-117180214-C-T c.930C>T p.F310= Synonymous 8/27 - 1
7-117180215-T-C c.931T>C p.F311L Missense 8/27 - 3
7-117180217-C-A c.933C>A p.F311L Missense 8/27 - 3
7-117180217-C-G c.933C>G p.F311L Missense 8/27 - 5
7-117180215-TT-CG c.931_932delinsCG p.F311R Missense 8/27 - 1
7-117180216-T-G c.932T>G p.F311C Missense 8/27 - 3
7-117180218-TT-GC c.934_935delinsGC p.F312A Missense 8/27 - 3
7-117180210-CCTT-C c.935_937del p.F312del InFrameDeletion 8/27 - 11
7-117180223-A-C c.939A>C p.S313= Synonymous 8/27 - 1
7-117180223-A-G c.939A>G p.S313= Synonymous 8/27 - 1
7-117180224-G-A c.940G>A p.G314R Missense 8/27 - 2
7-117180224-GGG-TGT c.940_942delinsTGT p.G314C Missense 8/27 - 1
7-117180225-G-C c.941G>C p.G314A Missense 8/27 - 2
7-117180225-G-A c.941G>A p.G314E Missense 8/27 - 5
7-117180225-G-T c.941G>T p.G314V Missense 8/27 - 1
7-117180226-G-T c.942G>T p.G314= Synonymous 8/27 - 1
7-117180228-T-C c.944T>C p.F315S Missense 8/27 - 2
7-117180228-T-G c.944T>G p.F315C Missense 8/27 - 1
7-117180229-C-G c.945C>G p.F315L Missense 8/27 - 1
7-117180229-C-T c.945C>T p.F315= Synonymous 8/27 - 1
7-117180230-TT-GC c.946_947delinsGC p.F316A Missense 8/27 - 1
7-117180231-T-G c.947T>G p.F316C Missense 8/27 - 2
7-117180231-T-A c.947T>A p.F316Y Missense 8/27 - 1
7-117180229-CT-C c.948del p.F316Lfs*12 Frameshift 8/27 - 11
7-117180232-T-G c.948T>G p.F316L Missense 8/27 - 1
7-117180233-G-A c.949G>A p.V317M Missense 8/27 - 1
7-117180234-T-A c.950T>A p.V317E Missense 8/27 - 1
7-117180234-T-C c.950T>C p.V317A Missense 8/27 - 2
7-117180234-T-G c.950T>G p.V317G Missense 8/27 - 1
7-117180232-TGTG-T c.952_954del p.V318del InFrameDeletion 8/27 - 1
7-117180237-T-C c.953T>C p.V318A Missense 8/27 - 1
7-117180238-G-A c.954G>A p.V318= Synonymous 8/27 - 1
7-117180242-T-G c.958T>G p.L320V Missense 8/27 - 9
7-117180244-A-C c.960A>C p.L320F Missense 8/27 - 1
7-117180244-A-T c.960A>T p.L320F Missense 8/27 - 2
7-117180244-A-G c.960A>G p.L320= Synonymous 8/27 - 2
7-117180243-T-TA c.960dup p.S321Ifs*43 Frameshift 8/27 - 2
7-117180245-T-C c.961T>C p.S321P Missense 8/27 - 1
7-117180245-T-G c.961T>G p.S321A Missense 8/27 - 1
7-117180246-C-T c.962C>T p.S321F Missense 8/27 - 1
7-117180247-T-C c.963T>C p.S321= Synonymous 8/27 - 1
7-117180248-G-A c.964G>A p.V322M Missense 8/27 - 1
7-117180248-GTG-TGT c.964_966delinsTGT p.V322C Missense 8/27 - 1
7-117180249-T-C c.965T>C p.V322A Missense 8/27 - 1
7-117180251-CT-TG c.967_968delinsTG p.L323C Missense 8/27 - 2
7-117180252-T-C c.968T>C p.L323P Missense 8/27 - 1
7-117180254-C-T c.970C>T p.P324S Missense 8/27 - 1
7-117180256-C-G c.972C>G p.P324= Synonymous 8/27 - 1
7-117180258-A-G c.974A>G p.Y325C Missense 8/27 - 2
7-117180258-A-T c.974A>T p.Y325F Missense 8/27 - 1
7-117180260-GCA-TGT c.976_978delinsTGT p.A326C Missense 8/27 - 2
7-117180261-C-T c.977C>T p.A326V Missense 8/27 - 1
7-117180262-A-G c.978A>G p.A326= Synonymous 8/27 - 1
7-117180263-C-T c.979C>T p.L327= Synonymous 8/27 - 1
7-117180263-C-A c.979C>A p.L327I Missense 8/27 - 1
7-117180264-T-G c.980T>G p.L327R Missense 8/27 - 2
7-117180265-A-G c.981A>G p.L327= Synonymous 8/27 - 1
7-117180268-C-G c.984C>G p.I328M Missense 8/27 - 1
7-117180269-AA-GC c.985_986delinsGC p.K329A Missense 8/27 - 2
7-117180269-A-T c.985A>T p.K329* Nonsense 8/27 - 1
7-117180269-AAA-TGT c.985_987delinsTGT p.K329C Missense 8/27 - 1
7-117180269-A-G c.985A>G p.K329E Missense 8/27 - 1
7-117180272-G-T c.988G>T p.G330* Nonsense 8/27 - 15
7-117180272-GGA-TGT c.988_990delinsTGT p.G330C Missense 8/27 - 1
7-117180273-G-A c.989G>A p.G330E Missense 8/27 - 3
7-117180275-AT-TG c.991_992delinsTG p.I331C Missense 8/27 - 1
7-117180276-T-A c.992T>A p.I331N Missense 8/27 - 2
7-117180276-T-C c.992T>C p.I331T Missense 8/27 - 1
7-117180278-AT-TG c.994_995delinsTG p.I332C Missense 8/27 - 1
7-117180281-C-T c.997C>T p.L333F Missense 8/27 - 3
7-117180281-CT-TG c.997_998delinsTG p.L333C Missense 8/27 - 3
7-117180282-T-C c.998T>C p.L333P Missense 8/27 - 1
7-117180284-C-T c.1000C>T p.R334W Missense 8/27 - 180
7-117180284-CG-GC c.1000_1001delinsGC p.R334A Missense 8/27 - 6
7-117180284-CGG-TGT c.1000_1002delinsTGT p.R334C Missense 8/27 - 26
7-117180284-CG-GA c.1000_1001delinsGA p.R334E Missense 8/27 - 1
7-117180284-CG-AA c.1000_1001delinsAA p.R334K Missense 8/27 - 1
7-117180285-G-A c.1001G>A p.R334Q Missense 8/27 - 17
7-117180285-G-T c.1001G>T p.R334L Missense 8/27 - 11
7-117180285-GG-AT c.1001_1002delinsAT p.R334H Missense 8/27 - 2
7-117180287-AA-GC c.1003_1004delinsGC p.K335A Missense 8/27 - 7
7-117180287-A-G c.1003A>G p.K335E Missense 8/27 - 3
7-117180287-AAA-TGT c.1003_1005delinsTGT p.K335C Missense 8/27 - 7
7-117180290-A-AG c.1006_1007insG p.I336Sfs*28 Frameshift 8/27 - 3
7-117180290-ATA-TGT c.1006_1008delinsTGT p.I336C Missense 8/27 - 5
7-117180290-A-G c.1006A>G p.I336V Missense 8/27 - 1
7-117180286-GA-G c.1006del p.I336Yfs*33 Frameshift 8/27 - 1
7-117180291-T-A c.1007T>A p.I336K Missense 8/27 - 20
7-117180291-T-C c.1007T>C p.I336T Missense 8/27 - 1
7-117180292-A-G c.1008A>G p.I336M Missense 8/27 - 1
7-117180293-T-G c.1009T>G p.F337V Missense 8/27 - 1
7-117180293-TT-GC c.1009_1010delinsGC p.F337A Missense 8/27 - 5
7-117180293-TT-CG c.1009_1010delinsCG p.F337R Missense 8/27 - 1
7-117180293-T-C c.1009T>C p.F337L Missense 8/27 - 1
7-117180295-C-A c.1011C>A p.F337L Missense 8/27 - 1
7-117180295-C-G c.1011C>G p.F337L Missense 8/27 - 1
7-117180294-T-G c.1010T>G p.F337C Missense 8/27 - 12
7-117180294-T-A c.1010T>A p.F337Y Missense 8/27 - 2
7-117180294-T-C c.1010T>C p.F337S Missense 8/27 - 6
7-117180296-AC-TG c.1012_1013delinsTG p.T338C Missense 8/27 - 20
7-117180296-AC-GG c.1012_1013delinsGG p.T338G Missense 8/27 - 1
7-117180296-A-G c.1012A>G p.T338A Missense 8/27 - 14
7-117180296-AC-CA c.1012_1013delinsCA p.T338H Missense 8/27 - 1
7-117180297-C-T c.1013C>T p.T338I Missense 8/27 - 39
7-117180297-C-G c.1013C>G p.T338S Missense 8/27 - 2
7-117180296-A-T c.1012A>T p.T338S Missense 8/27 - 2
7-117180297-CC-TG c.1013_1014delinsTG p.T338M Missense 8/27 - 1
7-117180299-AC-TG c.1015_1016delinsTG p.T339C Missense 8/27 - 3
7-117180302-A-G c.1018A>G p.I340V Missense 8/27 - 1
7-117180302-AT-TG c.1018_1019delinsTG p.I340C Missense 8/27 - 3
7-117180303-T-A c.1019T>A p.I340N Missense 8/27 - 2
7-117180303-T-C c.1019T>C p.I340T Missense 8/27 - 1
7-117180305-T-C c.1021T>C p.S341P Missense 8/27 - 9
7-117180302-A-ATC c.1021_1022dup p.F342Hfs*28 Frameshift 8/27 - 1
7-117180305-T-G c.1021T>G p.S341A Missense 8/27 - 7
7-117180305-TC-AA c.1021_1022delinsAA p.S341K Missense 8/27 - 3
7-117180306-CA-GT c.1022_1023delinsGT p.S341C Missense 8/27 - 9
7-117180308-TT-GC c.1024_1025delinsGC p.F342A Missense 8/27 - 1
7-117180308-T-TAA c.1024_1025insAA p.F342* Nonsense 8/27 - 1
7-117180309-T-G c.1025T>G p.F342C Missense 8/27 - 2
7-117180310-C-T c.1026C>T p.F342= Synonymous 8/27 - 1
7-117180311-T-A c.1027T>A p.C343S Missense 8/27 - 3
7-117180312-G-C c.1028G>C p.C343S Missense 8/27 - 3
7-117180312-G-T c.1028G>T p.C343F Missense 8/27 - 1
7-117180313-GC-G c.1029del p.C343* Frameshift 8/27 - 2
7-117180314-A-G c.1030A>G p.I344V Missense 8/27 - 1
7-117180314-AT-TG c.1030_1031delinsTG p.I344C Missense 8/27 - 13
7-117180314-AT-CA c.1030_1031delinsCA p.I344H Missense 8/27 - 1
7-117180314-AT-GC c.1030_1031delinsGC p.I344A Missense 8/27 - 1
7-117180315-TT-AG c.1031_1032delinsAG p.I344K Missense 8/27 - 3
7-117180317-GTT-AAG c.1033_1035delinsAAG p.V345K Missense 8/27 - 3
7-117180317-GT-TG c.1033_1034delinsTG p.V345C Missense 8/27 - 6
7-117180317-GT-CA c.1033_1034delinsCA p.V345H Missense 8/27 - 1
7-117180320-C-T c.1036C>T p.L346= Synonymous 8/27 - 2
7-117180320-CTG-TGT c.1036_1038delinsTGT p.L346C Missense 8/27 - 2
7-117180321-T-C c.1037T>C p.L346P Missense 8/27 - 8
7-117180321-T-TA c.1037_1038insA p.R347Afs*17 Frameshift 8/27 - 1
7-117180323-CG-GT c.1039_1040delinsGT p.R347V Missense 8/27 - 1
7-117180323-C-A c.1039C>A p.R347S Missense 8/27 - 2
7-117180323-C-T c.1039C>T p.R347C Missense 8/27 - 11
7-117180323-CG-GA c.1039_1040delinsGA p.R347D Missense 8/27 - 12
7-117180323-CG-GC c.1039_1040delinsGC p.R347A Missense 8/27 - 4
7-117180323-CGC-AAG c.1039_1041delinsAAG p.R347K Missense 8/27 - 2
7-117180323-CGC-GAG c.1039_1041delinsGAG p.R347E Missense 8/27 - 2
7-117180323-CGC-TGA c.1039_1041delinsTGA p.R347* Nonsense 8/27 - 1
7-117180324-G-C c.1040G>C p.R347P Missense 8/27 - 171
7-117180324-G-A c.1040G>A p.R347H Missense 8/27 - 94
7-117180324-G-T c.1040G>T p.R347L Missense 8/27 - 9
7-117180324-GC-AA c.1040_1041delinsAA p.R347Q Missense 8/27 - 2
7-117180326-ATG-TGT c.1042_1044delinsTGT p.M348C Missense 8/27 - 12
7-117180326-A-G c.1042A>G p.M348V Missense 8/27 - 6
7-117180327-T-A c.1043T>A p.M348K Missense 8/27 - 11
7-117180327-T-G c.1043T>G p.M348R Missense 8/27 - 1
7-117180329-GCG-TGT c.1045_1047delinsTGT p.A349C Missense 8/27 - 3
7-117180329-GC-AA c.1045_1046delinsAA p.A349K Missense 8/27 - 2
7-117180330-C-T c.1046C>T p.A349V Missense 8/27 - 8
7-117180331-G-A c.1047G>A p.A349= Synonymous 8/27 - 1
7-117180331-G-C c.1047G>C p.A349= Synonymous 8/27 - 1
7-117180331-G-T c.1047G>T p.A349= Synonymous 8/27 - 1
7-117180332-GT-TG c.1048_1049delinsTG p.V350C Missense 8/27 - 2
7-117180334-C-G c.1050C>G p.V350= Synonymous 8/27 - 1
7-117180335-AC-TG c.1051_1052delinsTG p.T351C Missense 8/27 - 5
7-117180335-A-G c.1051A>G p.T351A Missense 8/27 - 1
7-117180336-C-G c.1052C>G p.T351S Missense 8/27 - 7
7-117180335-A-T c.1051A>T p.T351S Missense 8/27 - 3
7-117180336-C-T c.1052C>T p.T351I Missense 8/27 - 4
7-117180338-CGG-TGT c.1054_1056delinsTGT p.R352C Missense 8/27 - 21
7-117180338-C-G c.1054C>G p.R352G Missense 8/27 - 3
7-117180338-C-T c.1054C>T p.R352W Missense 8/27 - 6
7-117180338-CG-GC c.1054_1055delinsGC p.R352A Missense 8/27 - 4
7-117180338-CG-GA c.1054_1055delinsGA p.R352E Missense 8/27 - 8
7-117180338-CG-AA c.1054_1055delinsAA p.R352K Missense 8/27 - 3
7-117180339-G-A c.1055G>A p.R352Q Missense 8/27 - 60
7-117180339-GG-AT c.1055_1056delinsAT p.R352H Missense 8/27 - 2
7-117180341-CAA-TGT c.1057_1059delinsTGT p.Q353C Missense 8/27 - 3
7-117180343-A-C c.1059A>C p.Q353H Missense 8/27 - 2
7-117180343-A-G c.1059A>G p.Q353= Synonymous 8/27 - 2
7-117180344-T-A c.1060T>A p.F354I Missense 8/27 - 1
7-117180345-T-G c.1061T>G p.F354C Missense 8/27 - 1
7-117180346-T-A c.1062T>A p.F354L Missense 8/27 - 1
7-117180347-C-T c.1063C>T p.P355S Missense 8/27 - 3
7-117180347-CC-TT c.1063_1064delinsTT p.P355F Missense 8/27 - 1
7-117180347-C-G c.1063C>G p.P355A Missense 8/27 - 2
7-117180347-CC-TG c.1063_1064delinsTG p.P355C Missense 8/27 - 1
7-117180348-C-T c.1064C>T p.P355L Missense 8/27 - 2
7-117180348-C-G c.1064C>G p.P355R Missense 8/27 - 1
7-117180351-G-A c.1067G>A p.W356* Nonsense 8/27 - 1
7-117180352-G-A c.1068G>A p.W356* Nonsense 8/27 - 1
7-117180352-G-T c.1068G>T p.W356C Missense 8/27 - 3
7-117180352-G-C c.1068G>C p.W356C Missense 8/27 - 3
7-117180353-G-A c.1069G>A p.A357T Missense 8/27 - 2
7-117180354-C-T c.1070C>T p.A357V Missense 8/27 - 2
7-117180358-A-G c.1074A>G p.V358= Synonymous 8/27 - 1
7-117180359-C-A c.1075C>A p.Q359K Missense 8/27 - 10
7-117180359-C-T c.1075C>T p.Q359* Nonsense 8/27 - 3
7-117180359-CAAACA-AAGAAG c.1075_1080delinsAAGAAG p.Q359_T360delinsKK MultiAAMissense 8/27 - 1
7-117180360-A-G c.1076A>G p.Q359R Missense 8/27 - 2
7-117180362-A-G c.1078A>G p.T360A Missense 8/27 - 1
7-117180363-C-A c.1079C>A p.T360K Missense 8/27 - 7
7-117180363-C-G c.1079C>G p.T360R Missense 8/27 - 2
7-117180363-C-T c.1079C>T p.T360I Missense 8/27 - 3
7-117180365-T-A c.1081T>A p.W361R Missense 8/27 - 3
7-117180365-T-C c.1081T>C p.W361R Missense 8/27 - 2
7-117180365-AT-A c.1081del p.W361Gfs*8 Frameshift 8/27 - 2
7-117180367-G-A c.1083G>A p.W361* Nonsense 8/27 - 1
7-117180368-TA-GC c.1084_1085delinsGC p.Y362A Missense 8/27 - 1
7-117180369-A-C c.1085A>C p.Y362S Missense 8/27 - 1
7-117180370-T-A c.1086T>A p.Y362* Nonsense 8/27 - 2
7-117180370-T-G c.1086T>G p.Y362* Nonsense 8/27 - 1
7-117180370-T-C c.1086T>C p.Y362= Synonymous 8/27 - 1
7-117180373-C-T c.1089C>T p.D363= Synonymous 8/27 - 1
7-117180374-T-C c.1090T>C p.S364P Missense 8/27 - 3
7-117180374-T-G c.1090T>G p.S364A Missense 8/27 - 1
7-117180375-C-G c.1091C>G p.S364C Missense 8/27 - 2
7-117180378-T-C c.1094T>C p.L365P Missense 8/27 - 2
7-117180379-T-G c.1095T>G p.L365= Synonymous 8/27 - 1
7-117180379-T-A c.1095T>A p.L365= Synonymous 8/27 - 1
7-117180379-T-C c.1095T>C p.L365= Synonymous 8/27 - 1
7-117180382-A-G c.1098A>G p.G366= Synonymous 8/27 - 1
7-117180383-G-A c.1099G>A p.A367T Missense 8/27 - 1
7-117180388-A-C c.1104A>C p.I368= Synonymous 8/27 - 1
7-117180390-A-G c.1106A>G p.N369S Missense 8/27 - 1
7-117180392-AAA-TGT c.1108_1110delinsTGT p.K370C Missense 8/27 - 2
7-117180392-A-G c.1108A>G p.K370E Missense 8/27 - 2
7-117180392-A-C c.1108A>C p.K370Q Missense 8/27 - 2
7-117180395-AT-GC c.1111_1112delinsGC p.I371A Missense 8/27 - 1
7-117180396-T-C c.1112T>C p.I371T Missense 8/27 - 2
7-117180397-A-G c.1113A>G p.I371M Missense 8/27 - 1
7-117180398-C-T c.1114C>T p.Q372* Nonsense 8/27 - 1
7-117180400-G-A c.1116G>A p.Q372= Synonymous 8/27 - 2
7-117180401-G-A c.1116+1G>A - IntronicSNV - 8/26 9
7-117180401-G-C c.1116+1G>C - IntronicSNV - 8/26 1
7-117180401-G-T c.1116+1G>T - IntronicSNV - 8/26 1
7-117180402-T-A c.1116+2T>A - IntronicSNV - 8/26 1
7-117181152-A-G c.1116+752A>G - IntronicSNV - 8/26 1
7-117182069-G-A c.1117-1G>A - IntronicSNV - 8/26 1
7-117182070-G-A c.1117G>A p.D373N Missense 9/27 - 3
7-117182070-G-T c.1117G>T p.D373Y Missense 9/27 - 1
7-117182070-GAT-TAA c.1117_1119delinsTAA p.D373* Nonsense 9/27 - 1
7-117182071-A-T c.1118A>T p.D373V Missense 9/27 - 1
7-117182073-TT-GC c.1120_1121delinsGC p.F374A Missense 9/27 - 1
7-117182076-TT-GC c.1123_1124delinsGC p.L375A Missense 9/27 - 1
7-117182077-T-G c.1124T>G p.L375* Nonsense 9/27 - 1
7-117182078-A-C c.1125A>C p.L375F Missense 9/27 - 5
7-117182078-A-T c.1125A>T p.L375F Missense 9/27 - 2
7-117182082-AA-GC c.1129_1130delinsGC p.K377A Missense 9/27 - 1
7-117182079-C-CA c.1130dup p.Q378Afs*4 Frameshift 9/27 - 3
7-117182083-A-G c.1130A>G p.K377R Missense 9/27 - 1
7-117182085-C-T c.1132C>T p.Q378* Nonsense 9/27 - 4
7-117182086-A-G c.1133A>G p.Q378R Missense 9/27 - 1
7-117182088-G-A c.1135G>A p.E379K Missense 9/27 - 1
7-117182088-G-T c.1135G>T p.E379* Nonsense 9/27 - 5
7-117182089-A-T c.1136A>T p.E379V Missense 9/27 - 2
7-117182090-A-C c.1137A>C p.E379D Missense 9/27 - 1
7-117182092-A-G c.1139A>G p.Y380C Missense 9/27 - 1
7-117182093-T-A c.1140T>A p.Y380* Nonsense 9/27 - 1
7-117182097-A-C c.1144A>C p.T382P Missense 9/27 - 1
7-117182098-C-T c.1145C>T p.T382I Missense 9/27 - 2
7-117182099-A-G c.1146A>G p.T382= Synonymous 9/27 - 1
7-117182103-G-T c.1150G>T p.E384* Nonsense 9/27 - 1
7-117182107-A-AT c.1155dup p.N386* Nonsense 9/27 - 1
7-117182110-A-C c.1157A>C p.N386T Missense 9/27 - 1
7-117182111-C-T c.1158C>T p.N386= Synonymous 9/27 - 1
7-117182112-CTT-C c.1159_1160del p.L387Nfs*23 Frameshift 9/27 - 2
7-117182113-T-C c.1160T>C p.L387S Missense 9/27 - 1
7-117182116-C-T c.1163C>T p.T388M Missense 9/27 - 4
7-117182116-C-A c.1163C>A p.T388K Missense 9/27 - 2
7-117182117-G-A c.1164G>A p.T388= Synonymous 9/27 - 3
7-117182117-G-T c.1164G>T p.T388= Synonymous 9/27 - 3
7-117182118-A-T c.1165A>T p.T389S Missense 9/27 - 2
7-117182119-C-T c.1166C>T p.T389I Missense 9/27 - 1
7-117182119-C-G c.1166C>G p.T389S Missense 9/27 - 1
7-117182121-A-G c.1168A>G p.T390A Missense 9/27 - 2
7-117182122-C-T c.1169C>T p.T390I Missense 9/27 - 1
7-117182123-A-C c.1170A>C p.T390= Synonymous 9/27 - 1
7-117182127-G-A c.1174G>A p.V392I Missense 9/27 - 1
7-117182128-T-G c.1175T>G p.V392G Missense 9/27 - 2
7-117182129-A-G c.1176A>G p.V392= Synonymous 9/27 - 1
7-117182134-T-C c.1181T>C p.M394T Missense 9/27 - 1
7-117182134-T-G c.1181T>G p.M394R Missense 9/27 - 2
7-117182136-G-A c.1183G>A p.E395K Missense 9/27 - 1
7-117182138-G-GAAT c.1186_1188dup p.N396dup InFrameInsertion 9/27 - 1
7-117182139-A-T c.1186A>T p.N396Y Missense 9/27 - 1
7-117182140-A-C c.1187A>C p.N396T Missense 9/27 - 1
7-117182141-T-TG c.1189dup p.V397Gfs*14 Frameshift 9/27 - 1
7-117182144-A-G c.1191A>G p.V397= Synonymous 9/27 - 1
7-117182148-G-A c.1195G>A p.A399T Missense 9/27 - 1
7-117182149-C-T c.1196C>T p.A399V Missense 9/27 - 3
7-117182149-C-A c.1196C>A p.A399D Missense 9/27 - 3
7-117182149-C-G c.1196C>G p.A399G Missense 9/27 - 1
7-117182150-C-T c.1197C>T p.A399= Synonymous 9/27 - 1
7-117182151-TT-GC c.1198_1199delinsGC p.F400A Missense 9/27 - 1
7-117182154-T-G c.1201T>G p.W401G Missense 9/27 - 11
7-117182154-TG-GC c.1201_1202delinsGC p.W401A Missense 9/27 - 1
7-117182154-TG-AT c.1201_1202delinsAT p.W401M Missense 9/27 - 1
7-117182154-TGG-ATC c.1201_1203delinsATC p.W401I Missense 9/27 - 2
7-117182155-G-A c.1202G>A p.W401* Nonsense 9/27 - 8
7-117182155-G-T c.1202G>T p.W401L Missense 9/27 - 1
7-117182155-GG-TT c.1202_1203delinsTT p.W401F Missense 9/27 - 7
7-117182155-GG-AT c.1202_1203delinsAT p.W401Y Missense 9/27 - 2
7-117182156-G-A c.1203G>A p.W401* Nonsense 9/27 - 7
7-117182156-G-C c.1203G>C p.W401C Missense 9/27 - 2
7-117182156-G-T c.1203G>T p.W401C Missense 9/27 - 2
7-117182157-G-T c.1204G>T p.E402* Nonsense 9/27 - 2
7-117182157-GAG-TGT c.1204_1206delinsTGT p.E402C Missense 9/27 - 1
7-117182159-G-A c.1206G>A p.E402= Synonymous 9/27 - 1
7-117182160-G-A c.1207G>A p.E403K Missense 9/27 - 1
7-117182161-A-C c.1208A>C p.E403A Missense 9/27 - 1
7-117182162-G-C c.1209G>C p.E403D Missense 9/27 - 2
7-117182162-G-A c.1209G>A p.E403= Synonymous 9/27 - 1
7-117182162-G-T c.1209G>T p.E403D Missense 9/27 - 1
7-117182163-G-A c.1209+1G>A - IntronicSNV - 9/26 5
7-117182163-G-T c.1209+1G>T - IntronicSNV - 9/26 1
7-117182164-T-A c.1209+2T>A - IntronicSNV - 9/26 1
7-117183268-A-T c.1209+1106A>T - IntronicSNV - 9/26 1
7-117185705-A-G c.1210-2990A>G - IntronicSNV - 9/26 1
7-117188684-T-G c.1210-11T>G - IntronicSNV - 9/26 2
7-117188689-T-A c.1210-6T>A - IntronicSNV - 9/26 1
7-117188695-G-C c.1210G>C p.G404R Missense 10/27 - 1
7-117188696-G-C c.1211G>C p.G404A Missense 10/27 - 1
7-117188696-G-T c.1211G>T p.G404V Missense 10/27 - 2
7-117188696-G-A c.1211G>A p.G404E Missense 10/27 - 3
7-117188702-G-C c.1217G>C p.G406A Missense 10/27 - 1
7-117188702-G-A c.1217G>A p.G406E Missense 10/27 - 1
7-117188703-G-A c.1218G>A p.G406= Synonymous 10/27 - 1
7-117188700-TG-T c.1219del p.E407Nfs*35 Frameshift 10/27 - 1
7-117188704-G-A c.1219G>A p.E407K Missense 10/27 - 3
7-117188704-G-T c.1219G>T p.E407* Nonsense 10/27 - 1
7-117188704-GAA-TGT c.1219_1221delinsTGT p.E407C Missense 10/27 - 1
7-117188705-A-T c.1220A>T p.E407V Missense 10/27 - 1
7-117188704-GA-G c.1221del p.E407Dfs*35 Frameshift 10/27 - 1
7-117188708-TA-GT c.1223_1224delinsGT p.L408C Missense 10/27 - 1
7-117188710-T-C c.1225T>C p.F409L Missense 10/27 - 5
7-117188712-T-A c.1227T>A p.F409L Missense 10/27 - 5
7-117188712-T-G c.1227T>G p.F409L Missense 10/27 - 5
7-117188710-T-A c.1225T>A p.F409I Missense 10/27 - 1
7-117188712-T-C c.1227T>C p.F409= Synonymous 10/27 - 1
7-117188716-A-G c.1231A>G p.K411E Missense 10/27 - 4
7-117188718-A-G c.1233A>G p.K411= Synonymous 10/27 - 1
7-117188719-G-T c.1234G>T p.A412S Missense 10/27 - 1
7-117188719-AG-A c.1234del p.A412Qfs*30 Frameshift 10/27 - 1
7-117188715-GAAAGC-G c.1234_1238del p.A412Tfs*4 Frameshift 10/27 - 1
7-117188720-GC-G c.1235del p.A412Efs*30 Frameshift 10/27 - 1
7-117188720-C-CAGAT c.1236_1237insGATA p.K413Dfs*6 Frameshift 10/27 - 1
7-117188722-A-T c.1237A>T p.K413* Nonsense 10/27 - 1
7-117188725-C-T c.1240C>T p.Q414* Nonsense 10/27 - 3
7-117188726-A-C c.1241A>C p.Q414P Missense 10/27 - 2
7-117188719-GCAAAA-G c.1243_1247del p.N415* Frameshift 10/27 - 2
7-117188731-A-G c.1246A>G p.N416D Missense 10/27 - 1
7-117188732-A-G c.1247A>G p.N416S Missense 10/27 - 2
7-117188727-A-AAACAAAC c.1247_1248insACAACAA p.N416Kfs*4 Frameshift 10/27 - 1
7-117188735-A-C c.1250A>C p.N417T Missense 10/27 - 1
7-117188736-C-G c.1251C>G p.N417K Missense 10/27 - 2
7-117188736-C-A c.1251C>A p.N417K Missense 10/27 - 9
7-117188737-A-G c.1252A>G p.N418D Missense 10/27 - 1
7-117188738-A-G c.1253A>G p.N418S Missense 10/27 - 1
7-117188739-T-C c.1254T>C p.N418= Synonymous 10/27 - 2
7-117188741-G-C c.1256G>C p.R419T Missense 10/27 - 1
7-117188741-G-T c.1256G>T p.R419I Missense 10/27 - 2
7-117188746-A-G c.1261A>G p.T421A Missense 10/27 - 3
7-117188749-T-G c.1264T>G p.S422A Missense 10/27 - 5
7-117188749-TC-GA c.1264_1265inv p.S422D Missense 10/27 - 6
7-117188749-T-C c.1264T>C p.S422P Missense 10/27 - 6
7-117188750-C-T c.1265C>T p.S422F Missense 10/27 - 8
7-117188750-C-A c.1265C>A p.S422Y Missense 10/27 - 1
7-117188750-CTAA-C c.1267_1269del p.N423del InFrameDeletion 10/27 - 1
7-117188754-T-A c.1269T>A p.N423K Missense 10/27 - 1
7-117188754-T-C c.1269T>C p.N423= Synonymous 10/27 - 1
7-117188755-G-A c.1270G>A p.G424S Missense 10/27 - 1
7-117188759-A-G c.1274A>G p.D425G Missense 10/27 - 1
7-117188763-C-T c.1278C>T p.D426= Synonymous 10/27 - 2
7-117188763-AC-A c.1278del p.D426Efs*16 Frameshift 10/27 - 1
7-117188764-AG-CT c.1279_1280inv p.S427L Missense 10/27 - 5
7-117188767-C-A c.1282C>A p.L428I Missense 10/27 - 1
7-117188767-C-G c.1282C>G p.L428V Missense 10/27 - 1
7-117188770-TT-AA c.1285_1286inv p.F429N Missense 10/27 - 1
7-117188771-T-C c.1286T>C p.F429S Missense 10/27 - 18
7-117188772-C-T c.1287C>T p.F429= Synonymous 10/27 - 1
7-117188772-C-A c.1287C>A p.F429L Missense 10/27 - 1
7-117188773-TT-GG c.1288_1289delinsGG p.F430G Missense 10/27 - 1
7-117188775-C-T c.1290C>T p.F430= Synonymous 10/27 - 1
7-117188776-A-G c.1291A>G p.S431G Missense 10/27 - 2
7-117188776-AG-CT c.1291_1292inv p.S431L Missense 10/27 - 1
7-117188781-T-C c.1296T>C p.N432= Synonymous 10/27 - 1
7-117188782-T-C c.1297T>C p.F433L Missense 10/27 - 3
7-117188784-C-A c.1299C>A p.F433L Missense 10/27 - 8
7-117188784-C-G c.1299C>G p.F433L Missense 10/27 - 3
7-117188782-T-A c.1297T>A p.F433I Missense 10/27 - 1
7-117188784-C-T c.1299C>T p.F433= Synonymous 10/27 - 1
7-117188785-T-C c.1300T>C p.S434P Missense 10/27 - 2
7-117188786-C-A c.1301C>A p.S434* Nonsense 10/27 - 3
7-117188786-C-G c.1301C>G p.S434* Nonsense 10/27 - 2
7-117188786-CA-GT c.1301_1302delinsGT p.S434C Missense 10/27 - 1
7-117188789-T-C c.1304T>C p.L435P Missense 10/27 - 1
7-117188790-T-C c.1305T>C p.L435= Synonymous 10/27 - 1
7-117188795-G-A c.1310G>A p.G437D Missense 10/27 - 1
7-117188797-A-G c.1312A>G p.T438A Missense 10/27 - 5
7-117188800-C-G c.1315C>G p.P439A Missense 10/27 - 1
7-117188800-C-A c.1315C>A p.P439T Missense 10/27 - 1
7-117188800-C-T c.1315C>T p.P439S Missense 10/27 - 3
7-117188804-T-C c.1319T>C p.V440A Missense 10/27 - 1
7-117188807-T-C c.1322T>C p.L441P Missense 10/27 - 6
7-117188809-A-T c.1324A>T p.K442* Nonsense 10/27 - 1
7-117188812-G-T c.1327G>T p.D443Y Missense 10/27 - 16
7-117188810-A-AAGAT c.1327_1330dup p.I444Rfs*3 Frameshift 10/27 - 1
7-117188814-T-G c.1329T>G p.D443E Missense 10/27 - 1
7-117188815-A-G c.1330A>G p.I444V Missense 10/27 - 1
7-117188812-GAT-G c.1330_1331del p.I444* Frameshift 10/27 - 1
7-117188815-A-T c.1330A>T p.I444F Missense 10/27 - 1
7-117188816-T-C c.1331T>C p.I444T Missense 10/27 - 2
7-117188816-T-G c.1331T>G p.I444S Missense 10/27 - 2
7-117188816-ATTAATTT-A c.1331_1337del p.I444Tfs*3 Frameshift 10/27 - 1
7-117188823-C-A c.1338C>A p.F446L Missense 10/27 - 1
7-117188825-A-G c.1340A>G p.K447R Missense 10/27 - 3
7-117188823-CA-C c.1340del p.K447Rfs*2 Frameshift 10/27 - 3
7-117188828-T-C c.1343T>C p.I448T Missense 10/27 - 2
7-117188828-T-G c.1343T>G p.I448R Missense 10/27 - 1
7-117188830-G-C c.1345G>C p.E449Q Missense 10/27 - 1
7-117188831-A-G c.1346A>G p.E449G Missense 10/27 - 1
7-117188836-G-A c.1351G>A p.G451R Missense 10/27 - 2
7-117188836-GG-AA c.1351_1352delinsAA p.G451K Missense 10/27 - 1
7-117188837-G-T c.1352G>T p.G451V Missense 10/27 - 2
7-117188838-A-G c.1353A>G p.G451= Synonymous 10/27 - 1
7-117188840-A-C c.1355A>C p.Q452P Missense 10/27 - 1
7-117188840-A-G c.1355A>G p.Q452R Missense 10/27 - 1
7-117188841-G-A c.1356G>A p.Q452= Synonymous 10/27 - 1
7-117188843-T-C c.1358T>C p.L453S Missense 10/27 - 1
7-117188840-AGTT-A c.1360_1362del p.L454del InFrameDeletion 10/27 - 1
7-117188848-G-T c.1363G>T p.A455S Missense 10/27 - 1
7-117188849-C-A c.1364C>A p.A455E Missense 10/27 - 163
7-117188849-C-T c.1364C>T p.A455V Missense 10/27 - 5
7-117188850-G-A c.1365G>A p.A455= Synonymous 10/27 - 2
7-117188850-G-T c.1365G>T p.A455= Synonymous 10/27 - 4
7-117188851-G-T c.1366G>T p.V456F Missense 10/27 - 6
7-117188852-T-C c.1367T>C p.V456A Missense 10/27 - 12
7-117188854-G-C c.1369G>C p.A457P Missense 10/27 - 4
7-117188857-G-A c.1372G>A p.G458R Missense 10/27 - 1
7-117188857-G-C c.1372G>C p.G458R Missense 10/27 - 1
7-117188858-G-T c.1373G>T p.G458V Missense 10/27 - 3
7-117188858-G-A c.1373G>A p.G458E Missense 10/27 - 2
7-117188858-GA-AC c.1373_1374delinsAC p.G458D Missense 10/27 - 1
7-117188856-TG-T c.1373del p.G458Dfs*11 Frameshift 10/27 - 1
7-117188854-GCTGGATCCA-G c.1375_1383del p.S459_G461del InFrameDeletion 10/27 - 1
7-117188861-C-T c.1376C>T p.S459F Missense 10/27 - 1
7-117188861-C-G c.1376C>G p.S459C Missense 10/27 - 1
7-117188862-C-T c.1377C>T p.S459= Synonymous 10/27 - 1
7-117188863-A-G c.1378A>G p.T460A Missense 10/27 - 2
7-117188864-C-G c.1379C>G p.T460S Missense 10/27 - 1
7-117188863-A-T c.1378A>T p.T460S Missense 10/27 - 1
7-117188867-G-A c.1382G>A p.G461E Missense 10/27 - 2
7-117188865-TGGA-T c.1382_1384del p.G461del InFrameDeletion 10/27 - 1
7-117188869-GCA-TGT c.1384_1386delinsTGT p.A462C Missense 10/27 - 2
7-117188869-GCA-TTT c.1384_1386delinsTTT p.A462F Missense 10/27 - 4
7-117188870-C-T c.1385C>T p.A462V Missense 10/27 - 1
7-117188873-G-A c.1388G>A p.G463D Missense 10/27 - 1
7-117188873-G-T c.1388G>T p.G463V Missense 10/27 - 1
7-117188873-G-C c.1388G>C p.G463A Missense 10/27 - 1
7-117188875-A-C c.1390A>C p.K464Q Missense 10/27 - 2
7-117188875-A-T c.1390A>T p.K464* Nonsense 10/27 - 1
7-117188875-AA-GC c.1390_1391delinsGC p.K464A Missense 10/27 - 24
7-117188875-A-G c.1390A>G p.K464E Missense 10/27 - 1
7-117188877-G-T c.1392G>T p.K464N Missense 10/27 - 5
7-117188877-G-C c.1392G>C p.K464N Missense 10/27 - 3
7-117188877-G-A c.1392G>A p.K464= Synonymous 10/27 - 1
7-117188878-G-A c.1392+1G>A - IntronicSNV - 10/26 1
7-117189272-G-A c.1392+395G>A - IntronicSNV - 10/26 1
7-117189272-G-C c.1392+395G>C - IntronicSNV - 10/26 1
7-117190996-T-A c.1392+2119T>A - IntronicSNV - 10/26 1
7-117190996-T-G c.1392+2119T>G - IntronicSNV - 10/26 1
7-117194082-G-A c.1392+5205G>A - IntronicSNV - 10/26 1
7-117199457-A-G c.1393-61A>G - IntronicSNV - 10/26 4
7-117199476-G-A c.1393-42G>A - IntronicSNV - 10/26 1
7-117199476-G-T c.1393-42G>T - IntronicSNV - 10/26 1
7-117199516-A-G c.1393-2A>G - IntronicSNV - 10/26 1
7-117199517-G-A c.1393-1G>A - IntronicSNV - 10/26 2
7-117199517-G-C c.1393-1G>C - IntronicSNV - 10/26 2
7-117199519-C-A c.1394C>A p.T465N Missense 11/27 - 4
7-117199519-C-T c.1394C>T p.T465I Missense 11/27 - 3
7-117199521-T-A c.1396T>A p.S466T Missense 11/27 - 2
7-117199522-C-G c.1397C>G p.S466* Nonsense 11/27 - 30
7-117199522-C-A c.1397C>A p.S466* Nonsense 11/27 - 14
7-117199522-C-T c.1397C>T p.S466L Missense 11/27 - 1
7-117199522-CA-GG c.1397_1398delinsGG p.S466W Missense 11/27 - 1
7-117199524-C-T c.1399C>T p.L467F Missense 11/27 - 20
7-117199525-T-C c.1400T>C p.L467P Missense 11/27 - 11
7-117199527-C-G c.1402C>G p.L468V Missense 11/27 - 1
7-117199528-T-C c.1403T>C p.L468P Missense 11/27 - 1
7-117199530-A-G c.1405A>G p.M469V Missense 11/27 - 5
7-117199532-G-A c.1407G>A p.M469I Missense 11/27 - 7
7-117199532-G-T c.1407G>T p.M469I Missense 11/27 - 8
7-117199532-G-C c.1407G>C p.M469I Missense 11/27 - 5
7-117199533-G-A c.1408G>A p.V470M Missense 11/27 - 57
7-117199534-T-A c.1409T>A p.V470E Missense 11/27 - 2
7-117199535-G-A c.1410G>A p.V470= Synonymous 11/27 - 2
7-117199535-G-C c.1410G>C p.V470= Synonymous 11/27 - 2
7-117199535-G-T c.1410G>T p.V470= Synonymous 11/27 - 2
7-117199536-A-G c.1411A>G p.I471V Missense 11/27 - 1
7-117199540-TG-T c.1418del p.G473Efs*54 Frameshift 11/27 - 10
7-117199543-G-A c.1418G>A p.G473E Missense 11/27 - 1
7-117199545-G-A c.1420G>A p.E474K Missense 11/27 - 2
7-117199545-G-C c.1420G>C p.E474Q Missense 11/27 - 2
7-117199545-GAA-TTT c.1420_1422delinsTTT p.E474F Missense 11/27 - 1
7-117199545-GA-AG c.1420_1421delinsAG p.E474R Missense 11/27 - 1
7-117199545-GAA-TGT c.1420_1422delinsTGT p.E474C Missense 11/27 - 1
7-117199546-A-C c.1421A>C p.E474A Missense 11/27 - 1
7-117199547-A-C c.1422A>C p.E474D Missense 11/27 - 1
7-117199547-A-T c.1422A>T p.E474D Missense 11/27 - 1
7-117199548-C-A c.1423C>A p.L475M Missense 11/27 - 1
7-117199548-CTG-TAT c.1423_1425delinsTAT p.L475Y Missense 11/27 - 2
7-117199551-GAG-TGT c.1426_1428delinsTGT p.E476C Missense 11/27 - 1
7-117199554-C-G c.1429C>G p.P477A Missense 11/27 - 2
7-117199554-C-A c.1429C>A p.P477T Missense 11/27 - 1
7-117199554-C-T c.1429C>T p.P477S Missense 11/27 - 1
7-117199558-C-A c.1433C>A p.S478* Nonsense 11/27 - 1
7-117199558-C-G c.1433C>G p.S478* Nonsense 11/27 - 1
7-117199560-G-T c.1435G>T p.E479* Nonsense 11/27 - 2
7-117199561-A-C c.1436A>C p.E479A Missense 11/27 - 1
7-117199561-A-G c.1436A>G p.E479G Missense 11/27 - 1
7-117199562-G-A c.1437G>A p.E479= Synonymous 11/27 - 1
7-117199562-G-C c.1437G>C p.E479D Missense 11/27 - 2
7-117199562-G-T c.1437G>T p.E479D Missense 11/27 - 1
7-117199563-G-T c.1438G>T p.G480C Missense 11/27 - 20
7-117199563-G-A c.1438G>A p.G480S Missense 11/27 - 3
7-117199563-GGT-AAG c.1438_1440delinsAAG p.G480K Missense 11/27 - 1
7-117199564-G-A c.1439G>A p.G480D Missense 11/27 - 2
7-117199575-C-T c.1450C>T p.H484Y Missense 11/27 - 2
7-117199578-A-G c.1453A>G p.S485G Missense 11/27 - 4
7-117199578-A-T c.1453A>T p.S485C Missense 11/27 - 7
7-117199579-G-A c.1454G>A p.S485N Missense 11/27 - 1
7-117199579-G-C c.1454G>C p.S485T Missense 11/27 - 1
7-117199580-T-G c.1455T>G p.S485R Missense 11/27 - 1
7-117199580-T-A c.1455T>A p.S485R Missense 11/27 - 1
7-117199578-A-C c.1453A>C p.S485R Missense 11/27 - 1
7-117199581-G-A c.1456G>A p.G486R Missense 11/27 - 5
7-117199581-G-C c.1456G>C p.G486R Missense 11/27 - 5
7-117199581-G-T c.1456G>T p.G486* Nonsense 11/27 - 1
7-117199583-A-T c.1458A>T p.G486= Synonymous 11/27 - 1
7-117199583-A-G c.1458A>G p.G486= Synonymous 11/27 - 1
7-117199583-A-C c.1458A>C p.G486= Synonymous 11/27 - 1
7-117199585-G-A c.1460G>A p.R487K Missense 11/27 - 1
7-117199585-G-T c.1460G>T p.R487I Missense 11/27 - 1
7-117199586-A-C c.1461A>C p.R487S Missense 11/27 - 1
7-117199586-A-T c.1461A>T p.R487S Missense 11/27 - 1
7-117199591-C-A c.1466C>A p.S489* Nonsense 11/27 - 59
7-117199591-C-G c.1466C>G p.S489* Nonsense 11/27 - 36
7-117199591-C-T c.1466C>T p.S489L Missense 11/27 - 3
7-117199593-T-C c.1468T>C p.F490L Missense 11/27 - 2
7-117199595-C-A c.1470C>A p.F490L Missense 11/27 - 2
7-117199595-C-G c.1470C>G p.F490L Missense 11/27 - 2
7-117199594-T-G c.1469T>G p.F490C Missense 11/27 - 1
7-117199595-C-T c.1470C>T p.F490= Synonymous 11/27 - 1
7-117199596-CT-C c.1471del p.C491Vfs*36 Frameshift 11/27 - 1
7-117199596-T-A c.1471T>A p.C491S Missense 11/27 - 3
7-117199597-G-C c.1472G>C p.C491S Missense 11/27 - 3
7-117199596-TG-GT c.1471_1472delinsGT p.C491V Missense 11/27 - 1
7-117199596-TG-GC c.1471_1472delinsGC p.C491A Missense 11/27 - 1
7-117199597-G-T c.1472G>T p.C491F Missense 11/27 - 2
7-117199598-T-A c.1473T>A p.C491* Nonsense 11/27 - 1
7-117199599-T-C c.1474T>C p.S492P Missense 11/27 - 16
7-117199600-C-T c.1475C>T p.S492F Missense 11/27 - 30
7-117199602-C-T c.1477C>T p.Q493* Nonsense 11/27 - 31
7-117199602-TCA-T c.1477_1478del p.Q493Vfs*10 Frameshift 11/27 - 1
7-117199603-A-C c.1478A>C p.Q493P Missense 11/27 - 2
7-117199603-A-G c.1478A>G p.Q493R Missense 11/27 - 3
7-117199603-A-T c.1478A>T p.Q493L Missense 11/27 - 1
7-117199604-G-C c.1479G>C p.Q493H Missense 11/27 - 1
7-117199605-TT-AA c.1480_1481inv p.F494N Missense 11/27 - 31
7-117199605-TT-GG c.1480_1481delinsGG p.F494G Missense 11/27 - 1
7-117199608-T-C c.1483T>C p.S495P Missense 11/27 - 5
7-117199609-C-T c.1484C>T p.S495F Missense 11/27 - 1
7-117199610-C-T c.1485C>T p.S495= Synonymous 11/27 - 1
7-117199610-C-G c.1485C>G p.S495= Synonymous 11/27 - 1
7-117199610-C-A c.1485C>A p.S495= Synonymous 11/27 - 1
7-117199611-T-C c.1486T>C p.W496R Missense 11/27 - 1
7-117199611-TG-GT c.1486_1487delinsGT p.W496V Missense 11/27 - 2
7-117199612-G-A c.1487G>A p.W496* Nonsense 11/27 - 8
7-117199613-G-A c.1488G>A p.W496* Nonsense 11/27 - 6
7-117199612-GG-TT c.1487_1488delinsTT p.W496F Missense 11/27 - 2
7-117199612-G-T c.1487G>T p.W496L Missense 11/27 - 1
7-117199613-G-T c.1488G>T p.W496C Missense 11/27 - 3
7-117199613-G-C c.1488G>C p.W496C Missense 11/27 - 3
7-117199614-A-G c.1489A>G p.I497V Missense 11/27 - 1
7-117199617-A-G c.1492A>G p.M498V Missense 11/27 - 1
7-117199617-ATG-TGT c.1492_1494delinsTGT p.M498C Missense 11/27 - 2
7-117199618-T-C c.1493T>C p.M498T Missense 11/27 - 1
7-117199620-C-T c.1495C>T p.P499S Missense 11/27 - 4
7-117199620-C-G c.1495C>G p.P499A Missense 11/27 - 3
7-117199621-C-A c.1496C>A p.P499H Missense 11/27 - 1
7-117199622-T-C c.1497T>C p.P499= Synonymous 11/27 - 1
7-117199624-G-A c.1499G>A p.G500D Missense 11/27 - 1
7-117199625-C-A c.1500C>A p.G500= Synonymous 11/27 - 2
7-117199625-C-T c.1500C>T p.G500= Synonymous 11/27 - 1
7-117199625-C-G c.1500C>G p.G500= Synonymous 11/27 - 1
7-117199626-A-G c.1501A>G p.T501A Missense 11/27 - 2
7-117199627-C-T c.1502C>T p.T501I Missense 11/27 - 1
7-117199627-C-A c.1502C>A p.T501N Missense 11/27 - 1
7-117199629-A-G c.1504A>G p.I502V Missense 11/27 - 2
7-117199630-T-C c.1505T>C p.I502T Missense 11/27 - 9
7-117199630-T-A c.1505T>A p.I502N Missense 11/27 - 2
7-117199630-T-G c.1505T>G p.I502S Missense 11/27 - 2
7-117199632-AA-GC c.1507_1508delinsGC p.K503A Missense 11/27 - 1
7-117199633-A-G c.1508A>G p.K503R Missense 11/27 - 1
7-117199636-A-C c.1511A>C p.E504A Missense 11/27 - 1
7-117199638-A-C c.1513A>C p.N505H Missense 11/27 - 1
7-117199638-A-G c.1513A>G p.N505D Missense 11/27 - 1
7-117199639-A-T c.1514A>T p.N505I Missense 11/27 - 1
7-117199641-A-G c.1516A>G p.I506V Missense 11/27 - 23
7-117199641-A-C c.1516A>C p.I506L Missense 11/27 - 2
7-117199642-T-C c.1517T>C p.I506T Missense 11/27 - 8
7-117199642-T-G c.1517T>G p.I506S Missense 11/27 - 1
7-117199643-C-A c.1518C>A p.I506= Synonymous 11/27 - 2
7-117199643-C-G c.1518C>G p.I506M Missense 11/27 - 3
7-117199643-C-T c.1518C>T p.I506= Synonymous 11/27 - 1
7-117199640-TATC-T c.1519_1521del p.I507del InFrameDeletion 11/27 - 92
7-117199644-A-G c.1519A>G p.I507V Missense 11/27 - 17
7-117199644-A-T c.1519A>T p.I507F Missense 11/27 - 2
7-117199644-CATCTTT-C c.1519_1524del p.I507_F508del InFrameDeletion 11/27 - 1
7-117199645-T-A c.1520T>A p.I507N Missense 11/27 - 3
7-117199645-T-TA c.1520_1521insA p.F508Lfs*6 Frameshift 11/27 - 1
7-117199644-ATCT-A c.1521_1523del p.F508del InFrameDeletion 11/27 - 1828
7-117199646-C-A c.1521C>A p.I507= Synonymous 11/27 - 2
7-117199646-C-T c.1521C>T p.I507= Synonymous 11/27 - 3
7-117199647-CTTT-C c.1522_1524del p.F508del InFrameDeletion 11/27 - 603
7-117199647-TT-GC c.1522_1523delinsGC p.F508A Missense 11/27 - 10
7-117199647-T-C c.1522T>C p.F508L Missense 11/27 - 3
7-117199647-T-G c.1522T>G p.F508V Missense 11/27 - 2
7-117199649-T-A c.1524T>A p.F508L Missense 11/27 - 2
7-117199647-TTT-CAA c.1522_1524delinsCAA p.F508Q Missense 11/27 - 1
7-117199647-TT-GG c.1522_1523delinsGG p.F508G Missense 11/27 - 4
7-117199649-T-G c.1524T>G p.F508L Missense 11/27 - 2
7-117199647-TT-AC c.1522_1523delinsAC p.F508T Missense 11/27 - 1
7-117199647-TT-AA c.1522_1523inv p.F508N Missense 11/27 - 2
7-117199647-TT-CG c.1522_1523delinsCG p.F508R Missense 11/27 - 8
7-117199647-T-A c.1522T>A p.F508I Missense 11/27 - 1
7-117199647-TTT-GAG c.1522_1524delinsGAG p.F508E Missense 11/27 - 2
7-117199647-TTT-AAG c.1522_1524delinsAAG p.F508K Missense 11/27 - 3
7-117199647-TT-CA c.1522_1523delinsCA p.F508H Missense 11/27 - 1
7-117199647-TTT-ATG c.1522_1524delinsATG p.F508M Missense 11/27 - 1
7-117199647-TT-CC c.1522_1523delinsCC p.F508P Missense 11/27 - 2
7-117199647-TT-GA c.1522_1523delinsGA p.F508D Missense 11/27 - 6
7-117199648-T-G c.1523T>G p.F508C Missense 11/27 - 55
7-117199648-T-A c.1523T>A p.F508Y Missense 11/27 - 3
7-117199648-T-C c.1523T>C p.F508S Missense 11/27 - 10
7-117199648-TT-GG c.1523_1524delinsGG p.F508W Missense 11/27 - 2
7-117199648-TT-AA c.1523_1524inv p.F508* Nonsense 11/27 - 4
7-117199649-T-C c.1524T>C p.F508= Synonymous 11/27 - 4
7-117199650-G-C c.1525G>C p.G509R Missense 11/27 - 1
7-117199651-G-C c.1526G>C p.G509A Missense 11/27 - 1
7-117199651-G-A c.1526G>A p.G509D Missense 11/27 - 1
7-117199653-TG-T c.1528del p.V510Ffs*17 Frameshift 11/27 - 1
7-117199653-G-A c.1528G>A p.V510I Missense 11/27 - 1
7-117199653-GT-TG c.1528_1529delinsTG p.V510C Missense 11/27 - 8
7-117199653-GTT-ATG c.1528_1530delinsATG p.V510M Missense 11/27 - 1
7-117199653-GT-CG c.1528_1529delinsCG p.V510R Missense 11/27 - 1
7-117199654-T-A c.1529T>A p.V510D Missense 11/27 - 28
7-117199654-T-C c.1529T>C p.V510A Missense 11/27 - 17
7-117199654-TT-AG c.1529_1530delinsAG p.V510E Missense 11/27 - 1
7-117199656-TC-GA c.1531_1532inv p.S511D Missense 11/27 - 3
7-117199656-T-G c.1531T>G p.S511A Missense 11/27 - 3
7-117199657-C-T c.1532C>T p.S511F Missense 11/27 - 1
7-117199659-TAT-GAG c.1534_1536delinsGAG p.Y512E Missense 11/27 - 3
7-117199659-T-G c.1534T>G p.Y512D Missense 11/27 - 1
7-117199659-TA-GC c.1534_1535delinsGC p.Y512A Missense 11/27 - 1
7-117199660-A-T c.1535A>T p.Y512F Missense 11/27 - 4
7-117199660-A-G c.1535A>G p.Y512C Missense 11/27 - 1
7-117199662-G-T c.1537G>T p.D513Y Missense 11/27 - 1
7-117199663-A-G c.1538A>G p.D513G Missense 11/27 - 4
7-117199665-G-A c.1540G>A p.E514K Missense 11/27 - 1
7-117199667-A-C c.1542A>C p.E514D Missense 11/27 - 1
7-117199667-A-T c.1542A>T p.E514D Missense 11/27 - 1
7-117199668-T-C c.1543T>C p.Y515H Missense 11/27 - 2
7-117199669-TATA-T c.1544_1546del p.Y515_R516delins* MultiAAMissense 11/27 - 1
7-117199666-AAT-A c.1545_1546del p.Y515* Frameshift 11/27 - 18
7-117199670-T-C c.1545T>C p.Y515= Synonymous 11/27 - 1
7-117199670-T-A c.1545T>A p.Y515* Nonsense 11/27 - 1
7-117199670-T-G c.1545T>G p.Y515* Nonsense 11/27 - 1
7-117199671-A-G c.1546A>G p.R516G Missense 11/27 - 3
7-117199671-AGA-TGG c.1546_1548delinsTGG p.R516W Missense 11/27 - 1
7-117199672-G-A c.1547G>A p.R516K Missense 11/27 - 8
7-117199674-TA-AT c.1549_1550delinsAT p.Y517I Missense 11/27 - 2
7-117199675-A-G c.1550A>G p.Y517C Missense 11/27 - 1
7-117199676-C-A c.1551C>A p.Y517* Nonsense 11/27 - 1
7-117199676-C-G c.1551C>G p.Y517* Nonsense 11/27 - 1
7-117199681-G-A c.1556G>A p.S519N Missense 11/27 - 1
7-117199682-C-T c.1557C>T p.S519= Synonymous 11/27 - 1
7-117199683-G-T c.1558G>T p.V520F Missense 11/27 - 54
7-117199683-G-A c.1558G>A p.V520I Missense 11/27 - 9
7-117199684-T-C c.1559T>C p.V520A Missense 11/27 - 1
7-117199685-C-T c.1560C>T p.V520= Synonymous 11/27 - 1
7-117199686-A-T c.1561A>T p.I521F Missense 11/27 - 3
7-117199686-A-C c.1561A>C p.I521L Missense 11/27 - 1
7-117199690-A-G c.1565A>G p.K522R Missense 11/27 - 1
7-117199692-G-A c.1567G>A p.A523T Missense 11/27 - 1
7-117199693-C-CA c.1569dup p.C524Mfs*44 Frameshift 11/27 - 1
7-117199695-T-C c.1570T>C p.C524R Missense 11/27 - 1
7-117199695-T-A c.1570T>A p.C524S Missense 11/27 - 4
7-117199696-G-C c.1571G>C p.C524S Missense 11/27 - 4
7-117199695-TG-AC c.1570_1571delinsAC p.C524T Missense 11/27 - 1
7-117199695-TG-GC c.1570_1571delinsGC p.C524A Missense 11/27 - 2
7-117199696-G-A c.1571G>A p.C524Y Missense 11/27 - 1
7-117199697-C-A c.1572C>A p.C524* Nonsense 11/27 - 15
7-117199698-C-T c.1573C>T p.Q525* Nonsense 11/27 - 4
7-117199701-CT-GC c.1576_1577delinsGC p.L526A Missense 11/27 - 2
7-117199704-G-C c.1579G>C p.E527Q Missense 11/27 - 2
7-117199704-GAA-AAC c.1579_1581delinsAAC p.E527N Missense 11/27 - 1
7-117199705-A-G c.1580A>G p.E527G Missense 11/27 - 1
7-117199706-A-G c.1581A>G p.E527= Synonymous 11/27 - 1
7-117199707-G-A c.1582G>A p.E528K Missense 11/27 - 3
7-117199707-G-C c.1582G>C p.E528Q Missense 11/27 - 1
7-117199709-G-A c.1584G>A p.E528= Synonymous 11/27 - 19
7-117199709-G-C c.1584G>C p.E528D Missense 11/27 - 4
7-117199709-G-T c.1584G>T p.E528D Missense 11/27 - 5
7-117199710-G-A c.1584+1G>A - IntronicSNV - 11/26 2
7-117200398-G-A c.1584+689G>A - IntronicSNV - 11/26 1
7-117200481-G-C c.1584+772G>C - IntronicSNV - 11/26 1
7-117200899-C-T c.1584+1190C>T - IntronicSNV - 11/26 2
7-117202817-A-G c.1584+3108A>G - IntronicSNV - 11/26 1
7-117203417-A-G c.1584+3708A>G - IntronicSNV - 11/26 6
7-117204462-A-G c.1584+4753A>G - IntronicSNV - 11/26 1
7-117206695-G-A c.1584+6986G>A - IntronicSNV - 11/26 1
7-117206883-A-G c.1584+7174A>G - IntronicSNV - 11/26 1
7-117207864-C-T c.1584+8155C>T - IntronicSNV - 11/26 1
7-117210123-G-A c.1584+10414G>A - IntronicSNV - 11/26 1
7-117214089-T-C c.1585-13704T>C - IntronicSNV - 11/26 2
7-117214471-T-G c.1585-13322T>G - IntronicSNV - 11/26 1
7-117217134-T-C c.1585-10659T>C - IntronicSNV - 11/26 1
7-117218381-A-G c.1585-9412A>G - IntronicSNV - 11/26 2
7-117219835-C-T c.1585-7958C>T - IntronicSNV - 11/26 1
7-117219835-C-A c.1585-7958C>A - IntronicSNV - 11/26 1
7-117226904-G-A c.1585-889G>A - IntronicSNV - 11/26 1
7-117227613-A-G c.1585-180A>G - IntronicSNV - 11/26 1
7-117227784-T-A c.1585-9T>A - IntronicSNV - 11/26 1
7-117227784-T-C c.1585-9T>C - IntronicSNV - 11/26 1
7-117227785-G-A c.1585-8G>A - IntronicSNV - 11/26 2
7-117227785-G-T c.1585-8G>T - IntronicSNV - 11/26 2
7-117227792-G-A c.1585-1G>A - IntronicSNV - 11/26 5
7-117227793-GA-TT c.1585_1586delinsTT p.D529F Missense 12/27 - 2
7-117227793-G-A c.1585G>A p.D529N Missense 12/27 - 2
7-117227794-A-C c.1586A>C p.D529A Missense 12/27 - 1
7-117227794-A-G c.1586A>G p.D529G Missense 12/27 - 1
7-117227795-C-T c.1587C>T p.D529= Synonymous 12/27 - 1
7-117227796-A-T c.1588A>T p.I530F Missense 12/27 - 1
7-117227796-A-C c.1588A>C p.I530L Missense 12/27 - 1
7-117227796-A-G c.1588A>G p.I530V Missense 12/27 - 1
7-117227797-T-C c.1589T>C p.I530T Missense 12/27 - 1
7-117227797-T-A c.1589T>A p.I530N Missense 12/27 - 1
7-117227798-C-G c.1590C>G p.I530M Missense 12/27 - 1
7-117227799-T-A c.1591T>A p.S531T Missense 12/27 - 1
7-117227801-C-T c.1593C>T p.S531= Synonymous 12/27 - 1
7-117227801-C-G c.1593C>G p.S531= Synonymous 12/27 - 1
7-117227801-C-A c.1593C>A p.S531= Synonymous 12/27 - 1
7-117227802-A-G c.1594A>G p.K532E Missense 12/27 - 1
7-117227802-AAG-TAT c.1594_1596delinsTAT p.K532Y Missense 12/27 - 1
7-117227804-G-T c.1596G>T p.K532N Missense 12/27 - 1
7-117227805-T-C c.1597T>C p.F533L Missense 12/27 - 1
7-117227808-G-C c.1600G>C p.A534P Missense 12/27 - 9
7-117227808-GC-CA c.1600_1601delinsCA p.A534Q Missense 12/27 - 1
7-117227809-C-A c.1601C>A p.A534E Missense 12/27 - 2
7-117227809-C-T c.1601C>T p.A534V Missense 12/27 - 1
7-117227812-A-C c.1604A>C p.E535A Missense 12/27 - 2
7-117227813-G-A c.1605G>A p.E535= Synonymous 12/27 - 1
7-117227813-G-C c.1605G>C p.E535D Missense 12/27 - 2
7-117227813-G-T c.1605G>T p.E535D Missense 12/27 - 2
7-117227814-A-G c.1606A>G p.K536E Missense 12/27 - 4
7-117227814-A-T c.1606A>T p.K536* Nonsense 12/27 - 4
7-117227814-A-C c.1606A>C p.K536Q Missense 12/27 - 1
7-117227813-GA-G c.1608del p.D537Tfs*3 Frameshift 12/27 - 1
7-117227817-GA-TT c.1609_1610delinsTT p.D537F Missense 12/27 - 2
7-117227817-G-A c.1609G>A p.D537N Missense 12/27 - 1
7-117227819-C-A c.1611C>A p.D537E Missense 12/27 - 2
7-117227819-C-T c.1611C>T p.D537= Synonymous 12/27 - 1
7-117227819-C-G c.1611C>G p.D537E Missense 12/27 - 1
7-117227820-A-T c.1612A>T p.N538Y Missense 12/27 - 1
7-117227822-T-A c.1614T>A p.N538K Missense 12/27 - 1
7-117227822-T-C c.1614T>C p.N538= Synonymous 12/27 - 1
7-117227824-T-C c.1616T>C p.I539T Missense 12/27 - 44
7-117227826-G-A c.1618G>A p.V540I Missense 12/27 - 2
7-117227826-G-T c.1618G>T p.V540F Missense 12/27 - 1
7-117227829-C-A c.1621C>A p.L541I Missense 12/27 - 1
7-117227829-CT-GC c.1621_1622delinsGC p.L541A Missense 12/27 - 1
7-117227832-G-T c.1624G>T p.G542* Nonsense 12/27 - 538
7-117227832-G-A c.1624G>A p.G542R Missense 12/27 - 9
7-117227832-GGA-TGT c.1624_1626delinsTGT p.G542C Missense 12/27 - 6
7-117227832-GGA-TGG c.1624_1626delinsTGG p.G542W Missense 12/27 - 5
7-117227832-G-C c.1624G>C p.G542R Missense 12/27 - 4
7-117227832-GGA-AGC c.1624_1626delinsAGC p.G542S Missense 12/27 - 1
7-117227833-G-A c.1625G>A p.G542E Missense 12/27 - 1
7-117227833-G-C c.1625G>C p.G542A Missense 12/27 - 1
7-117227835-GAA-TGT c.1627_1629delinsTGT p.E543C Missense 12/27 - 2
7-117227836-A-C c.1628A>C p.E543A Missense 12/27 - 2
7-117227837-A-G c.1629A>G p.E543= Synonymous 12/27 - 1
7-117227838-G-A c.1630G>A p.G544S Missense 12/27 - 1
7-117227839-G-T c.1631G>T p.G544V Missense 12/27 - 1
7-117227840-T-G c.1632T>G p.G544= Synonymous 12/27 - 1
7-117227841-G-A c.1633G>A p.G545R Missense 12/27 - 1
7-117227842-G-C c.1634G>C p.G545A Missense 12/27 - 1
7-117227846-C-T c.1638C>T p.I546= Synonymous 12/27 - 1
7-117227847-A-G c.1639A>G p.T547A Missense 12/27 - 1
7-117227847-ACA-TGT c.1639_1641inv p.T547C Missense 12/27 - 1
7-117227848-C-T c.1640C>T p.T547I Missense 12/27 - 1
7-117227849-A-T c.1641A>T p.T547= Synonymous 12/27 - 2
7-117227850-CTG-TGT c.1642_1644delinsTGT p.L548C Missense 12/27 - 1
7-117227851-T-C c.1643T>C p.L548P Missense 12/27 - 1
7-117227853-AG-GA c.1645_1646delinsGA p.S549D Missense 12/27 - 1
7-117227853-A-T c.1645A>T p.S549C Missense 12/27 - 5
7-117227853-AG-TT c.1645_1646delinsTT p.S549F Missense 12/27 - 1
7-117227854-G-A c.1646G>A p.S549N Missense 12/27 - 166
7-117227854-G-T c.1646G>T p.S549I Missense 12/27 - 8
7-117227854-G-C c.1646G>C p.S549T Missense 12/27 - 1
7-117227855-T-G c.1647T>G p.S549R Missense 12/27 - 163
7-117227855-T-A c.1647T>A p.S549R Missense 12/27 - 82
7-117227853-A-C c.1645A>C p.S549R Missense 12/27 - 116
7-117227855-T-C c.1647T>C p.S549= Synonymous 12/27 - 5
7-117227856-G-A c.1648G>A p.G550R Missense 12/27 - 4
7-117227856-G-T c.1648G>T p.G550* Nonsense 12/27 - 2
7-117227856-G-C c.1648G>C p.G550R Missense 12/27 - 3
7-117227857-G-A c.1649G>A p.G550E Missense 12/27 - 50
7-117227859-G-A c.1651G>A p.G551S Missense 12/27 - 100
7-117227859-GGT-AAG c.1651_1653delinsAAG p.G551K Missense 12/27 - 3
7-117227859-G-T c.1651G>T p.G551C Missense 12/27 - 2
7-117227859-G-C c.1651G>C p.G551R Missense 12/27 - 1
7-117227860-G-A c.1652G>A p.G551D Missense 12/27 - 1251
7-117227860-GT-AG c.1652_1653delinsAG p.G551E Missense 12/27 - 5
7-117227858-AG-A c.1652del p.G551Vfs*8 Frameshift 12/27 - 2
7-117227860-G-C c.1652G>C p.G551A Missense 12/27 - 2
7-117227860-GGTC-G c.1652_1654del p.G551_Q552delinsE MultiAAMissense 12/27 - 1
7-117227861-T-G c.1653T>G p.G551= Synonymous 12/27 - 1
7-117227861-T-A c.1653T>A p.G551= Synonymous 12/27 - 1
7-117227861-T-C c.1653T>C p.G551= Synonymous 12/27 - 1
7-117227862-C-A c.1654C>A p.Q552K Missense 12/27 - 1
7-117227862-C-T c.1654C>T p.Q552* Nonsense 12/27 - 24
7-117227862-C-G c.1654C>G p.Q552E Missense 12/27 - 1
7-117227862-CA-GC c.1654_1655delinsGC p.Q552A Missense 12/27 - 1
7-117227862-CAA-TGT c.1654_1656delinsTGT p.Q552C Missense 12/27 - 1
7-117227863-A-C c.1655A>C p.Q552P Missense 12/27 - 1
7-117227864-A-T c.1656A>T p.Q552H Missense 12/27 - 1
7-117227864-A-C c.1656A>C p.Q552H Missense 12/27 - 1
7-117227865-C-T c.1657C>T p.R553* Nonsense 12/27 - 240
7-117227865-C-G c.1657C>G p.R553G Missense 12/27 - 5
7-117227865-CGA-ATG c.1657_1659delinsATG p.R553M Missense 12/27 - 21
7-117227865-CG-AA c.1657_1658delinsAA p.R553K Missense 12/27 - 4
7-117227865-CGA-TGG c.1657_1659delinsTGG p.R553W Missense 12/27 - 1
7-117227865-CGA-TGT c.1657_1659delinsTGT p.R553C Missense 12/27 - 2
7-117227866-G-A c.1658G>A p.R553Q Missense 12/27 - 33
7-117227866-G-C c.1658G>C p.R553P Missense 12/27 - 1
7-117227869-C-A c.1661C>A p.A554E Missense 12/27 - 2
7-117227871-AG-CA c.1663_1664delinsCA p.R555Q Missense 12/27 - 1
7-117227871-AG-GC c.1663_1664delinsGC p.R555A Missense 12/27 - 1
7-117227871-A-G c.1663A>G p.R555G Missense 12/27 - 1
7-117227872-G-A c.1664G>A p.R555K Missense 12/27 - 58
7-117227872-G-C c.1664G>C p.R555T Missense 12/27 - 1
7-117227874-A-G c.1666A>G p.I556V Missense 12/27 - 26
7-117227876-T-C c.1668T>C p.I556= Synonymous 12/27 - 1
7-117227877-T-A c.1669T>A p.S557T Missense 12/27 - 2
7-117227878-C-A c.1670C>A p.S557Y Missense 12/27 - 1
7-117227878-C-T c.1670C>T p.S557F Missense 12/27 - 2
7-117227881-T-C c.1673T>C p.L558S Missense 12/27 - 13
7-117227882-A-G c.1674A>G p.L558= Synonymous 12/27 - 1
7-117227882-A-T c.1674A>T p.L558F Missense 12/27 - 1
7-117227883-G-A c.1675G>A p.A559T Missense 12/27 - 36
7-117227883-G-T c.1675G>T p.A559S Missense 12/27 - 2
7-117227883-G-C c.1675G>C p.A559P Missense 12/27 - 1
7-117227884-C-A c.1676C>A p.A559E Missense 12/27 - 1
7-117227886-A-T c.1678A>T p.R560* Nonsense 12/27 - 1
7-117227886-A-G c.1678A>G p.R560G Missense 12/27 - 1
7-117227884-CA-C c.1678del p.R560Efs*12 Frameshift 12/27 - 1
7-117227887-G-C c.1679G>C p.R560T Missense 12/27 - 103
7-117227887-G-A c.1679G>A p.R560K Missense 12/27 - 13
7-117227888-G-A c.1679+1G>A - IntronicSNV - 12/26 1
7-117227888-G-C c.1679+1G>C - IntronicSNV - 12/26 1
7-117227889-T-C c.1679+2T>C - IntronicSNV - 12/26 2
7-117228453-G-T c.1679+566G>T - IntronicSNV - 12/26 1
7-117229167-G-A c.1680-1240G>A - IntronicSNV - 12/26 1
7-117229336-A-G c.1680-1071A>G - IntronicSNV - 12/26 1
7-117229426-T-C c.1680-981T>C - IntronicSNV - 12/26 1
7-117229521-A-G c.1680-886A>G - IntronicSNV - 12/26 9
7-117229530-G-A c.1680-877G>A - IntronicSNV - 12/26 1
7-117229530-G-T c.1680-877G>T - IntronicSNV - 12/26 3
7-117229537-T-A c.1680-870T>A - IntronicSNV - 12/26 1
7-117229993-C-T c.1680-414C>T - IntronicSNV - 12/26 2
7-117230283-T-C c.1680-124T>C - IntronicSNV - 12/26 3
7-117230406-G-A c.1680-1G>A - IntronicSNV - 12/26 4
7-117230406-G-C c.1680-1G>C - IntronicSNV - 12/26 4
7-117230407-A-T c.1680A>T p.R560S Missense 13/27 - 14
7-117230407-A-C c.1680A>C p.R560S Missense 13/27 - 16
7-117230408-GCA-TGT c.1681_1683delinsTGT p.A561C Missense 13/27 - 1
7-117230408-G-A c.1681G>A p.A561T Missense 13/27 - 1
7-117230409-C-A c.1682C>A p.A561E Missense 13/27 - 38
7-117230409-C-T c.1682C>T p.A561V Missense 13/27 - 1
7-117230411-G-C c.1684G>C p.V562L Missense 13/27 - 3
7-117230411-G-T c.1684G>T p.V562L Missense 13/27 - 2
7-117230411-G-A c.1684G>A p.V562I Missense 13/27 - 21
7-117230414-T-A c.1687T>A p.Y563N Missense 13/27 - 12
7-117230414-T-C c.1687T>C p.Y563H Missense 13/27 - 1
7-117230414-T-G c.1687T>G p.Y563D Missense 13/27 - 3
7-117230414-TA-GT c.1687_1688delinsGT p.Y563V Missense 13/27 - 2
7-117230415-A-G c.1688A>G p.Y563C Missense 13/27 - 1
7-117230416-C-A c.1689C>A p.Y563* Nonsense 13/27 - 2
7-117230416-C-G c.1689C>G p.Y563* Nonsense 13/27 - 2
7-117230417-A-G c.1690A>G p.K564E Missense 13/27 - 3
7-117230417-AAA-TGT c.1690_1692delinsTGT p.K564C Missense 13/27 - 2
7-117230418-A-G c.1691A>G p.K564R Missense 13/27 - 1
7-117230420-G-C c.1693G>C p.D565H Missense 13/27 - 1
7-117230420-G-T c.1693G>T p.D565Y Missense 13/27 - 1
7-117230421-A-G c.1694A>G p.D565G Missense 13/27 - 7
7-117230421-A-C c.1694A>C p.D565A Missense 13/27 - 3
7-117230422-T-A c.1695T>A p.D565E Missense 13/27 - 1
7-117230423-G-A c.1696G>A p.A566T Missense 13/27 - 3
7-117230423-G-C c.1696G>C p.A566P Missense 13/27 - 2
7-117230424-C-A c.1697C>A p.A566D Missense 13/27 - 2
7-117230424-C-T c.1697C>T p.A566V Missense 13/27 - 1
7-117230426-G-A c.1699G>A p.D567N Missense 13/27 - 1
7-117230426-G-T c.1699G>T p.D567Y Missense 13/27 - 3
7-117230427-A-C c.1700A>C p.D567A Missense 13/27 - 5
7-117230429-TT-GC c.1702_1703delinsGC p.L568A Missense 13/27 - 1
7-117230431-G-T c.1704G>T p.L568F Missense 13/27 - 2
7-117230431-G-C c.1704G>C p.L568F Missense 13/27 - 2
7-117230432-T-C c.1705T>C p.Y569H Missense 13/27 - 2
7-117230432-T-G c.1705T>G p.Y569D Missense 13/27 - 15
7-117230433-A-G c.1706A>G p.Y569C Missense 13/27 - 1
7-117230434-T-A c.1707T>A p.Y569* Nonsense 13/27 - 1
7-117230434-T-C c.1707T>C p.Y569= Synonymous 13/27 - 1
7-117230435-TTA-GAC c.1708_1710delinsGAC p.L570D Missense 13/27 - 1
7-117230438-T-C c.1711T>C p.L571= Synonymous 13/27 - 1
7-117230439-T-C c.1712T>C p.L571S Missense 13/27 - 2
7-117230441-G-C c.1714G>C p.D572H Missense 13/27 - 1
7-117230441-G-A c.1714G>A p.D572N Missense 13/27 - 12
7-117230443-C-G c.1716C>G p.D572E Missense 13/27 - 1
7-117230444-TCT-GAG c.1717_1719delinsGAG p.S573E Missense 13/27 - 4
7-117230444-T-G c.1717T>G p.S573A Missense 13/27 - 1
7-117230445-C-G c.1718C>G p.S573C Missense 13/27 - 2
7-117230445-C-T c.1718C>T p.S573F Missense 13/27 - 1
7-117230447-C-G c.1720C>G p.P574A Missense 13/27 - 3
7-117230447-C-T c.1720C>T p.P574S Missense 13/27 - 3
7-117230448-C-A c.1721C>A p.P574H Missense 13/27 - 22
7-117230450-T-A c.1723T>A p.F575I Missense 13/27 - 1
7-117230450-TT-AC c.1723_1724delinsAC p.F575T Missense 13/27 - 2
7-117230451-T-A c.1724T>A p.F575Y Missense 13/27 - 3
7-117230448-CTTTTGGATACCTAGATGT-C c.1725_1742del p.F575_V580del InFrameDeletion 13/27 - 1
7-117230453-G-A c.1726G>A p.G576R Missense 13/27 - 1
7-117230453-G-C c.1726G>C p.G576R Missense 13/27 - 1
7-117230454-G-C c.1727G>C p.G576A Missense 13/27 - 66
7-117230454-G-T c.1727G>T p.G576V Missense 13/27 - 2
7-117230454-G-A c.1727G>A p.G576E Missense 13/27 - 1
7-117230456-T-C c.1729T>C p.Y577H Missense 13/27 - 1
7-117230456-TAC-AAG c.1729_1731delinsAAG p.Y577K Missense 13/27 - 1
7-117230456-TAC-GAG c.1729_1731delinsGAG p.Y577E Missense 13/27 - 1
7-117230457-A-G c.1730A>G p.Y577C Missense 13/27 - 1
7-117230457-A-T c.1730A>T p.Y577F Missense 13/27 - 1
7-117230458-C-G c.1731C>G p.Y577* Nonsense 13/27 - 1
7-117230458-C-A c.1731C>A p.Y577* Nonsense 13/27 - 1
7-117230458-C-T c.1731C>T p.Y577= Synonymous 13/27 - 4
7-117230459-C-A c.1732C>A p.L578I Missense 13/27 - 2
7-117230459-C-G c.1732C>G p.L578V Missense 13/27 - 1
7-117230460-CTA-C c.1733_1734del p.L578Rfs*10 Frameshift 13/27 - 3
7-117230460-T-C c.1733T>C p.L578P Missense 13/27 - 1
7-117230461-A-G c.1734A>G p.L578= Synonymous 13/27 - 2
7-117230462-G-T c.1735G>T p.D579Y Missense 13/27 - 2
7-117230463-A-G c.1736A>G p.D579G Missense 13/27 - 46
7-117230463-A-C c.1736A>C p.D579A Missense 13/27 - 1
7-117230465-G-A c.1738G>A p.V580I Missense 13/27 - 1
7-117230470-A-T c.1743A>T p.L581F Missense 13/27 - 1
7-117230470-A-C c.1743A>C p.L581F Missense 13/27 - 1
7-117230471-A-T c.1744A>T p.T582S Missense 13/27 - 3
7-117230471-A-G c.1744A>G p.T582A Missense 13/27 - 3
7-117230472-C-G c.1745C>G p.T582R Missense 13/27 - 1
7-117230473-A-C c.1746A>C p.T582= Synonymous 13/27 - 1
7-117230474-G-A c.1747G>A p.E583K Missense 13/27 - 1
7-117230475-A-G c.1748A>G p.E583G Missense 13/27 - 2
7-117230477-A-G c.1750A>G p.K584E Missense 13/27 - 1
7-117230477-A-C c.1750A>C p.K584Q Missense 13/27 - 1
7-117230480-G-T c.1753G>T p.E585* Nonsense 13/27 - 29
7-117230480-G-A c.1753G>A p.E585K Missense 13/27 - 2
7-117230481-A-G c.1754A>G p.E585G Missense 13/27 - 1
7-117230485-A-T c.1758A>T p.I586= Synonymous 13/27 - 1
7-117230486-T-C c.1759T>C p.F587L Missense 13/27 - 2
7-117230488-T-G c.1761T>G p.F587L Missense 13/27 - 2
7-117230488-T-A c.1761T>A p.F587L Missense 13/27 - 2
7-117230486-T-A c.1759T>A p.F587I Missense 13/27 - 1
7-117230486-T-G c.1759T>G p.F587V Missense 13/27 - 1
7-117230489-G-A c.1762G>A p.E588K Missense 13/27 - 2
7-117230489-G-T c.1762G>T p.E588* Nonsense 13/27 - 2
7-117230490-A-T c.1763A>T p.E588V Missense 13/27 - 7
7-117230490-A-C c.1763A>C p.E588A Missense 13/27 - 2
7-117230490-A-G c.1763A>G p.E588G Missense 13/27 - 2
7-117230493-G-A c.1766G>A p.S589N Missense 13/27 - 4
7-117230494-G-A c.1766+1G>A - IntronicSNV - 13/26 15
7-117230494-G-C c.1766+1G>C - IntronicSNV - 13/26 3
7-117230494-G-T c.1766+1G>T - IntronicSNV - 13/26 4
7-117230495-T-C c.1766+2T>C - IntronicSNV - 13/26 4
7-117230496-A-G c.1766+3A>G - IntronicSNV - 13/26 5
7-117230496-A-C c.1766+3A>C - IntronicSNV - 13/26 1
7-117230498-G-T c.1766+5G>T - IntronicSNV - 13/26 8
7-117230645-T-A c.1766+152T>A - IntronicSNV - 13/26 2
7-117231852-T-C c.1767-136T>C - IntronicSNV - 13/26 2
7-117231989-TG-CT c.1768_1769delinsCT p.C590L Missense 14/27 - 5
7-117231989-TG-GT c.1768_1769delinsGT p.C590V Missense 14/27 - 3
7-117231989-T-A c.1768T>A p.C590S Missense 14/27 - 1
7-117231990-G-C c.1769G>C p.C590S Missense 14/27 - 1
7-117231989-TG-GC c.1768_1769delinsGC p.C590A Missense 14/27 - 1
7-117231989-TG-AC c.1768_1769delinsAC p.C590T Missense 14/27 - 1
7-117231990-G-T c.1769G>T p.C590F Missense 14/27 - 1
7-117231991-T-A c.1770T>A p.C590* Nonsense 14/27 - 1
7-117231994-C-A c.1773C>A p.V591= Synonymous 14/27 - 1
7-117231994-C-G c.1773C>G p.V591= Synonymous 14/27 - 1
7-117231994-C-T c.1773C>T p.V591= Synonymous 14/27 - 1
7-117231995-TG-CT c.1774_1775delinsCT p.C592L Missense 14/27 - 4
7-117231995-TG-GT c.1774_1775delinsGT p.C592V Missense 14/27 - 1
7-117231996-G-A c.1775G>A p.C592Y Missense 14/27 - 1
7-117231996-G-T c.1775G>T p.C592F Missense 14/27 - 1
7-117231997-T-A c.1776T>A p.C592* Nonsense 14/27 - 1
7-117232000-A-G c.1779A>G p.K593= Synonymous 14/27 - 1
7-117232003-G-T c.1782G>T p.L594= Synonymous 14/27 - 1
7-117232003-G-A c.1782G>A p.L594= Synonymous 14/27 - 1
7-117232003-G-C c.1782G>C p.L594= Synonymous 14/27 - 1
7-117232001-C-T c.1780C>T p.L594= Synonymous 14/27 - 1
7-117232004-A-G c.1783A>G p.M595V Missense 14/27 - 1
7-117232004-A-T c.1783A>T p.M595L Missense 14/27 - 1
7-117232012-C-G c.1791C>G p.N597K Missense 14/27 - 1
7-117232012-C-T c.1791C>T p.N597= Synonymous 14/27 - 1
7-117232012-C-CA c.1795dup p.T599Nfs*2 Frameshift 14/27 - 1
7-117232016-A-G c.1795A>G p.T599A Missense 14/27 - 1
7-117232017-C-G c.1796C>G p.T599S Missense 14/27 - 1
7-117232019-A-G c.1798A>G p.R600G Missense 14/27 - 1
7-117232021-G-A c.1800G>A p.R600= Synonymous 14/27 - 1
7-117232019-A-C c.1798A>C p.R600= Synonymous 14/27 - 1
7-117232022-A-G c.1801A>G p.I601V Missense 14/27 - 2
7-117232022-A-T c.1801A>T p.I601F Missense 14/27 - 4
7-117232022-AT-GA c.1801_1802delinsGA p.I601D Missense 14/27 - 1
7-117232023-T-C c.1802T>C p.I601T Missense 14/27 - 1
7-117232028-G-A c.1807G>A p.V603I Missense 14/27 - 2
7-117232028-G-T c.1807G>T p.V603F Missense 14/27 - 1
7-117232030-C-T c.1809C>T p.V603= Synonymous 14/27 - 1
7-117232030-C-A c.1809C>A p.V603= Synonymous 14/27 - 1
7-117232030-C-G c.1809C>G p.V603= Synonymous 14/27 - 1
7-117232031-A-G c.1810A>G p.T604A Missense 14/27 - 2
7-117232032-C-G c.1811C>G p.T604S Missense 14/27 - 1
7-117232031-A-T c.1810A>T p.T604S Missense 14/27 - 1
7-117232032-C-T c.1811C>T p.T604I Missense 14/27 - 1
7-117232034-T-C c.1813T>C p.S605P Missense 14/27 - 2
7-117232035-C-G c.1814C>G p.S605C Missense 14/27 - 2
7-117232035-C-T c.1814C>T p.S605F Missense 14/27 - 1
7-117232036-TA-T c.1819del p.M607Wfs*4 Frameshift 14/27 - 2
7-117232041-ATGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTT-A c.1821_1879del p.M607Ifs*15 InFrameDeletion 14/27 - 3
7-117232042-G-C c.1821G>C p.M607I Missense 14/27 - 1
7-117232042-G-A c.1821G>A p.M607I Missense 14/27 - 1
7-117232042-G-T c.1821G>T p.M607I Missense 14/27 - 1
7-117232043-G-A c.1822G>A p.E608K Missense 14/27 - 1
7-117232044-A-G c.1823A>G p.E608G Missense 14/27 - 1
7-117232046-CAT-TAA c.1825_1827delinsTAA p.H609* Nonsense 14/27 - 1
7-117232046-CA-AC c.1825_1826delinsAC p.H609T Missense 14/27 - 2
7-117232047-A-G c.1826A>G p.H609R Missense 14/27 - 7
7-117232047-A-T c.1826A>T p.H609L Missense 14/27 - 2
7-117232049-T-A c.1828T>A p.L610I Missense 14/27 - 2
7-117232050-T-C c.1829T>C p.L610S Missense 14/27 - 2
7-117232051-A-G c.1830A>G p.L610= Synonymous 14/27 - 1
7-117232051-A-T c.1830A>T p.L610F Missense 14/27 - 1
7-117232054-G-C c.1833G>C p.K611N Missense 14/27 - 1
7-117232054-G-T c.1833G>T p.K611N Missense 14/27 - 1
7-117232057-A-T c.1836A>T p.K612N Missense 14/27 - 1
7-117232058-G-A c.1837G>A p.A613T Missense 14/27 - 4
7-117232061-GA-AG c.1840_1841delinsAG p.D614S Missense 14/27 - 1
7-117232062-A-G c.1841A>G p.D614G Missense 14/27 - 41
7-117232067-A-G c.1846A>G p.I616V Missense 14/27 - 1
7-117232072-A-T c.1851A>T p.L617F Missense 14/27 - 2
7-117232074-T-C c.1853T>C p.I618T Missense 14/27 - 13
7-117232076-T-C c.1855T>C p.L619= Synonymous 14/27 - 1
7-117232078-G-A c.1857G>A p.L619= Synonymous 14/27 - 2
7-117232077-T-C c.1856T>C p.L619S Missense 14/27 - 1
7-117232079-C-T c.1858C>T p.H620Y Missense 14/27 - 1
7-117232080-A-C c.1859A>C p.H620P Missense 14/27 - 4
7-117232080-A-G c.1859A>G p.H620R Missense 14/27 - 2
7-117232080-A-T c.1859A>T p.H620L Missense 14/27 - 3
7-117232081-T-A c.1860T>A p.H620Q Missense 14/27 - 6
7-117232081-T-G c.1860T>G p.H620Q Missense 14/27 - 6
7-117232080-A-AT c.1860dup p.E621* Nonsense 14/27 - 1
7-117232082-G-A c.1861G>A p.E621K Missense 14/27 - 1
7-117232083-A-G c.1862A>G p.E621G Missense 14/27 - 1
7-117232086-G-A c.1865G>A p.G622D Missense 14/27 - 21
7-117232086-G-C c.1865G>C p.G622A Missense 14/27 - 1
7-117232088-AG-GC c.1867_1868delinsGC p.S623A Missense 14/27 - 1
7-117232091-AG-GC c.1870_1871delinsGC p.S624A Missense 14/27 - 1
7-117232094-T-A c.1873T>A p.Y625N Missense 14/27 - 1
7-117232099-T-G c.1878T>G p.F626L Missense 14/27 - 1
7-117232101-A-G c.1880A>G p.Y627C Missense 14/27 - 1
7-117232103-G-A c.1882G>A p.G628R Missense 14/27 - 8
7-117232103-G-C c.1882G>C p.G628R Missense 14/27 - 8
7-117232105-G-T c.1884G>T p.G628= Synonymous 14/27 - 1
7-117232105-G-A c.1884G>A p.G628= Synonymous 14/27 - 1
7-117232105-G-C c.1884G>C p.G628= Synonymous 14/27 - 1
7-117232106-A-G c.1885A>G p.T629A Missense 14/27 - 2
7-117232107-C-T c.1886C>T p.T629I Missense 14/27 - 1
7-117232111-T-G c.1890T>G p.F630L Missense 14/27 - 1
7-117232112-T-C c.1891T>C p.S631P Missense 14/27 - 1
7-117232108-A-AT c.1891dup p.S631Ffs*11 Frameshift 14/27 - 1
7-117232112-T-G c.1891T>G p.S631A Missense 14/27 - 3
7-117232115-G-A c.1894G>A p.E632K Missense 14/27 - 1
7-117232115-G-T c.1894G>T p.E632* Nonsense 14/27 - 1
7-117232118-C-A c.1897C>A p.L633I Missense 14/27 - 5
7-117232120-C-T c.1899C>T p.L633= Synonymous 14/27 - 1
7-117232120-C-G c.1899C>G p.L633= Synonymous 14/27 - 1
7-117232120-C-A c.1899C>A p.L633= Synonymous 14/27 - 1
7-117232121-C-T c.1900C>T p.Q634* Nonsense 14/27 - 1
7-117232125-A-C c.1904A>C p.N635T Missense 14/27 - 1
7-117232127-CT-GA c.1906_1907delinsGA p.L636E Missense 14/27 - 2
7-117232127-CTA-GAC c.1906_1908delinsGAC p.L636D Missense 14/27 - 1
7-117232127-C-G c.1906C>G p.L636V Missense 14/27 - 1
7-117232128-T-C c.1907T>C p.L636P Missense 14/27 - 1
7-117232130-CA-GC c.1909_1910delinsGC p.Q637A Missense 14/27 - 1
7-117232130-C-T c.1909C>T p.Q637* Nonsense 14/27 - 1
7-117232131-A-G c.1910A>G p.Q637R Missense 14/27 - 22
7-117232132-AG-A c.1911del p.Q637Hfs*26 Frameshift 14/27 - 12
7-117232133-C-T c.1912C>T p.P638S Missense 14/27 - 1
7-117232136-G-A c.1915G>A p.D639N Missense 14/27 - 1
7-117232141-T-C c.1920T>C p.F640= Synonymous 14/27 - 1
7-117232142-A-G c.1921A>G p.S641G Missense 14/27 - 1
7-117232142-AG-GC c.1921_1922delinsGC p.S641A Missense 14/27 - 4
7-117232144-C-A c.1923C>A p.S641R Missense 14/27 - 1
7-117232152-T-C c.1931T>C p.L644P Missense 14/27 - 1
7-117232153-C-G c.1932C>G p.L644= Synonymous 14/27 - 2
7-117232153-C-T c.1932C>T p.L644= Synonymous 14/27 - 1
7-117232153-C-A c.1932C>A p.L644= Synonymous 14/27 - 1
7-117232155-T-A c.1934T>A p.M645K Missense 14/27 - 1
7-117232155-T-C c.1934T>C p.M645T Missense 14/27 - 2
7-117232155-T-G c.1934T>G p.M645R Missense 14/27 - 1
7-117232157-GGA-TGT c.1936_1938delinsTGT p.G646C Missense 14/27 - 1
7-117232157-G-T c.1936G>T p.G646* Nonsense 14/27 - 1
7-117232161-G-T c.1940G>T p.C647F Missense 14/27 - 1
7-117232163-G-A c.1942G>A p.D648N Missense 14/27 - 3
7-117232164-A-T c.1943A>T p.D648V Missense 14/27 - 6
7-117232166-T-C c.1945T>C p.S649P Missense 14/27 - 1
7-117232168-T-C c.1947T>C p.S649= Synonymous 14/27 - 1
7-117232171-C-A c.1950C>A p.F650L Missense 14/27 - 3
7-117232171-C-T c.1950C>T p.F650= Synonymous 14/27 - 3
7-117232172-G-A c.1951G>A p.D651N Missense 14/27 - 2
7-117232172-GAC-TAA c.1951_1953delinsTAA p.D651* Nonsense 14/27 - 1
7-117232175-C-A c.1954C>A p.Q652K Missense 14/27 - 1
7-117232175-C-G c.1954C>G p.Q652E Missense 14/27 - 1
7-117232175-C-T c.1954C>T p.Q652* Nonsense 14/27 - 1
7-117232178-T-G c.1957T>G p.F653V Missense 14/27 - 1
7-117232181-A-G c.1960A>G p.S654G Missense 14/27 - 3
7-117232183-T-G c.1962T>G p.S654R Missense 14/27 - 1
7-117232187-G-C c.1966G>C p.E656Q Missense 14/27 - 1
7-117232187-G-T c.1966G>T p.E656* Nonsense 14/27 - 2
7-117232194-G-A c.1973G>A p.R658K Missense 14/27 - 1
7-117232194-G-T c.1973G>T p.R658I Missense 14/27 - 1
7-117232194-GAAATTCAATCCT-A c.1973_1985delinsA p.R658_L662delinsK MultiAAMissense 14/27 - 1
7-117232194-GAAATTCAATCCT-AGAAA c.1973_1985delinsAGAAA p.R658Kfs*4 Frameshift 14/27 - 2
7-117232194-GA-G c.1976del p.N659Ifs*4 Frameshift 14/27 - 2
7-117232199-T-G c.1978T>G p.S660A Missense 14/27 - 15
7-117232199-TC-GA c.1978_1979inv p.S660E Missense 14/27 - 1
7-117232199-T-A c.1978T>A p.S660T Missense 14/27 - 1
7-117232200-C-A c.1979C>A p.S660* Nonsense 14/27 - 1
7-117232200-C-G c.1979C>G p.S660* Nonsense 14/27 - 1
7-117232201-A-G c.1980A>G p.S660= Synonymous 14/27 - 1
7-117232202-A-G c.1981A>G p.I661V Missense 14/27 - 1
7-117232203-T-C c.1982T>C p.I661T Missense 14/27 - 2
7-117232204-CCTAA-C c.1986_1989del p.T663Rfs*8 Frameshift 14/27 - 1
7-117232208-A-G c.1987A>G p.T663A Missense 14/27 - 3
7-117232209-C-T c.1988C>T p.T663I Missense 14/27 - 1
7-117232211-G-T c.1990G>T p.E664* Nonsense 14/27 - 3
7-117232213-G-T c.1992G>T p.E664D Missense 14/27 - 2
7-117232213-G-C c.1992G>C p.E664D Missense 14/27 - 1
7-117232214-A-T c.1993A>T p.T665S Missense 14/27 - 4
7-117232214-A-G c.1993A>G p.T665A Missense 14/27 - 1
7-117232215-C-G c.1994C>G p.T665S Missense 14/27 - 2
7-117232217-TT-GC c.1996_1997delinsGC p.L666A Missense 14/27 - 1
7-117232218-T-G c.1997T>G p.L666* Nonsense 14/27 - 3
7-117232220-C-T c.1999C>T p.H667Y Missense 14/27 - 1
7-117232221-A-G c.2000A>G p.H667R Missense 14/27 - 7
7-117232222-C-T c.2001C>T p.H667= Synonymous 14/27 - 1
7-117232223-C-T c.2002C>T p.R668C Missense 14/27 - 48
7-117232223-C-A c.2002C>A p.R668S Missense 14/27 - 1
7-117232224-G-T c.2003G>T p.R668L Missense 14/27 - 3
7-117232224-G-A c.2003G>A p.R668H Missense 14/27 - 3
7-117232226-TT-GC c.2005_2006delinsGC p.F669A Missense 14/27 - 1
7-117232229-T-G c.2008T>G p.S670A Missense 14/27 - 2
7-117232231-AT-A c.2012del p.L671* Frameshift 14/27 - 14
7-117232235-G-T c.2014G>T p.E672* Nonsense 14/27 - 1
7-117232235-G-A c.2014G>A p.E672K Missense 14/27 - 1
7-117232233-TAGA-T c.2015_2017del p.E672del InFrameDeletion 14/27 - 1
7-117232238-G-T c.2017G>T p.G673* Nonsense 14/27 - 5
7-117232238-G-A c.2017G>A p.G673R Missense 14/27 - 1
7-117232239-G-A c.2018G>A p.G673E Missense 14/27 - 1
7-117232242-A-G c.2021A>G p.D674G Missense 14/27 - 1
7-117232242-A-T c.2021A>T p.D674V Missense 14/27 - 1
7-117232245-C-T c.2024C>T p.A675V Missense 14/27 - 1
7-117232247-C-G c.2026C>G p.P676A Missense 14/27 - 2
7-117232247-C-T c.2026C>T p.P676S Missense 14/27 - 2
7-117232248-C-A c.2027C>A p.P676H Missense 14/27 - 1
7-117232249-T-C c.2028T>C p.P676= Synonymous 14/27 - 1
7-117232250-G-A c.2029G>A p.V677I Missense 14/27 - 1
7-117232257-G-A c.2036G>A p.W679* Nonsense 14/27 - 6
7-117232258-G-A c.2037G>A p.W679* Nonsense 14/27 - 4
7-117232263-A-T c.2042A>T p.E681V Missense 14/27 - 8
7-117232264-A-C c.2043A>C p.E681D Missense 14/27 - 1
7-117232264-A-T c.2043A>T p.E681D Missense 14/27 - 1
7-117232265-A-G c.2044A>G p.T682A Missense 14/27 - 3
7-117232270-A-AT c.2049_2050insT p.K684* Nonsense 14/27 - 1
7-117232271-AA-CT c.2050_2051delinsCT p.K684L Missense 14/27 - 1
7-117232271-A-G c.2050A>G p.K684E Missense 14/27 - 1
7-117232272-AA-G c.2051_2052delinsG p.K684Sfs*38 Frameshift 14/27 - 10
7-117232272-A-G c.2051A>G p.K684R Missense 14/27 - 2
7-117232272-A-C c.2051A>C p.K684T Missense 14/27 - 1
7-117232266-CAA-C c.2051_2052del p.K684Tfs*4 Frameshift 14/27 - 1
7-117232266-C-CA c.2052dup p.Q685Tfs*4 Frameshift 14/27 - 27
7-117232266-CA-C c.2052del p.K684Nfs*38 Frameshift 14/27 - 21
7-117232273-A-G c.2052A>G p.K684= Synonymous 14/27 - 1
7-117232274-C-T c.2053C>T p.Q685* Nonsense 14/27 - 3
7-117232275-A-G c.2054A>G p.Q685R Missense 14/27 - 2
7-117232276-A-G c.2055A>G p.Q685= Synonymous 14/27 - 1
7-117232277-T-A c.2056T>A p.S686T Missense 14/27 - 1
7-117232277-T-G c.2056T>G p.S686A Missense 14/27 - 5
7-117232277-TCT-GAG c.2056_2058delinsGAG p.S686E Missense 14/27 - 1
7-117232277-TC-GA c.2056_2057inv p.S686D Missense 14/27 - 1
7-117232278-C-A c.2057C>A p.S686Y Missense 14/27 - 3
7-117232278-C-CA c.2057_2058insA p.K688* Nonsense 14/27 - 1
7-117232282-T-G c.2061T>G p.F687L Missense 14/27 - 1
7-117232283-A-C c.2062A>C p.K688Q Missense 14/27 - 1
7-117232288-G-A c.2067G>A p.Q689= Synonymous 14/27 - 1
7-117232289-A-G c.2068A>G p.T690A Missense 14/27 - 2
7-117232292-G-A c.2071G>A p.G691R Missense 14/27 - 1
7-117232295-G-T c.2074G>T p.E692* Nonsense 14/27 - 1
7-117232298-T-C c.2077T>C p.F693L Missense 14/27 - 3
7-117232300-T-A c.2079T>A p.F693L Missense 14/27 - 3
7-117232300-T-G c.2079T>G p.F693L Missense 14/27 - 4
7-117232300-T-TG c.2083dup p.E695Gfs*35 Frameshift 14/27 - 5
7-117232305-A-G c.2084A>G p.E695G Missense 14/27 - 1
7-117232308-A-G c.2087A>G p.K696R Missense 14/27 - 1
7-117232310-AG-GC c.2089_2090delinsGC p.R697A Missense 14/27 - 1
7-117232304-G-GA c.2089dup p.R697Kfs*33 Frameshift 14/27 - 2
7-117232318-T-A c.2097T>A p.N699K Missense 14/27 - 1
7-117232319-TCT-GAG c.2098_2100delinsGAG p.S700E Missense 14/27 - 1
7-117232319-T-G c.2098T>G p.S700A Missense 14/27 - 1
7-117232325-C-A c.2104C>A p.L702I Missense 14/27 - 2
7-117232326-T-C c.2105T>C p.L702P Missense 14/27 - 1
7-117232327-C-T c.2106C>T p.L702= Synonymous 14/27 - 1
7-117232327-C-G c.2106C>G p.L702= Synonymous 14/27 - 1
7-117232327-C-A c.2106C>A p.L702= Synonymous 14/27 - 1
7-117232329-A-T c.2108A>T p.N703I Missense 14/27 - 1
7-117232330-T-C c.2109T>C p.N703= Synonymous 14/27 - 1
7-117232332-C-G c.2111C>G p.P704R Missense 14/27 - 2
7-117232332-C-T c.2111C>T p.P704L Missense 14/27 - 2
7-117232333-A-T c.2112A>T p.P704= Synonymous 14/27 - 1
7-117232333-A-G c.2112A>G p.P704= Synonymous 14/27 - 1
7-117232333-A-C c.2112A>C p.P704= Synonymous 14/27 - 1
7-117232334-A-G c.2113A>G p.I705V Missense 14/27 - 1
7-117232340-T-G c.2119T>G p.S707A Missense 14/27 - 3
7-117232341-C-G c.2120C>G p.S707C Missense 14/27 - 2
7-117232341-C-A c.2120C>A p.S707Y Missense 14/27 - 1
7-117232341-C-T c.2120C>T p.S707F Missense 14/27 - 1
7-117232343-A-G c.2122A>G p.I708V Missense 14/27 - 1
7-117232344-T-C c.2123T>C p.I708T Missense 14/27 - 1
7-117232345-A-G c.2124A>G p.I708M Missense 14/27 - 1
7-117232346-C-T c.2125C>T p.R709* Nonsense 14/27 - 28
7-117232346-C-A c.2125C>A p.R709= Synonymous 14/27 - 1
7-117232348-A-C c.2127A>C p.R709= Synonymous 14/27 - 1
7-117232348-A-G c.2127A>G p.R709= Synonymous 14/27 - 1
7-117232348-A-T c.2127A>T p.R709= Synonymous 14/27 - 1
7-117232346-CGA-AAC c.2125_2127delinsAAC p.R709N Missense 14/27 - 2
7-117232347-G-A c.2126G>A p.R709Q Missense 14/27 - 3
7-117232349-A-T c.2128A>T p.K710* Nonsense 14/27 - 20
7-117232350-A-G c.2129A>G p.K710R Missense 14/27 - 1
7-117232351-A-T c.2130A>T p.K710N Missense 14/27 - 1
7-117232355-T-G c.2134T>G p.S712A Missense 14/27 - 1
7-117232355-TCC-GAG c.2134_2136delinsGAG p.S712E Missense 14/27 - 1
7-117232356-C-T c.2135C>T p.S712F Missense 14/27 - 1
7-117232356-C-G c.2135C>G p.S712C Missense 14/27 - 1
7-117232360-T-A c.2139T>A p.I713= Synonymous 14/27 - 1
7-117232361-G-T c.2140G>T p.V714L Missense 14/27 - 2
7-117232363-G-T c.2142G>T p.V714= Synonymous 14/27 - 1
7-117232364-C-T c.2143C>T p.Q715* Nonsense 14/27 - 1
7-117232366-A-C c.2145A>C p.Q715H Missense 14/27 - 1
7-117232367-A-G c.2146A>G p.K716E Missense 14/27 - 1
7-117232367-A-T c.2146A>T p.K716* Nonsense 14/27 - 1
7-117232368-A-C c.2147A>C p.K716T Missense 14/27 - 1
7-117232368-A-G c.2147A>G p.K716R Missense 14/27 - 1
7-117232369-G-C c.2148G>C p.K716N Missense 14/27 - 1
7-117232369-G-T c.2148G>T p.K716N Missense 14/27 - 1
7-117232370-A-G c.2149A>G p.T717A Missense 14/27 - 1
7-117232374-C-G c.2153C>G p.P718R Missense 14/27 - 2
7-117232374-C-T c.2153C>T p.P718L Missense 14/27 - 1
7-117232379-C-T c.2158C>T p.Q720* Nonsense 14/27 - 2
7-117232380-A-G c.2159A>G p.Q720R Missense 14/27 - 1
7-117232384-G-C c.2163G>C p.M721I Missense 14/27 - 1
7-117232384-G-A c.2163G>A p.M721I Missense 14/27 - 1
7-117232384-G-T c.2163G>T p.M721I Missense 14/27 - 1
7-117232389-G-A c.2168G>A p.G723D Missense 14/27 - 1
7-117232389-G-T c.2168G>T p.G723V Missense 14/27 - 2
7-117232393-C-A c.2172C>A p.I724= Synonymous 14/27 - 1
7-117232393-C-T c.2172C>T p.I724= Synonymous 14/27 - 1
7-117232394-G-A c.2173G>A p.E725K Missense 14/27 - 5
7-117232394-G-GA c.2175dup p.E726Rfs*4 Frameshift 14/27 - 7
7-117232400-G-A c.2179G>A p.D727N Missense 14/27 - 1
7-117232401-A-C c.2180A>C p.D727A Missense 14/27 - 1
7-117232403-T-G c.2182T>G p.S728A Missense 14/27 - 1
7-117232405-T-TA c.2184_2185insA p.D729Rfs*2 Frameshift 14/27 - 1
7-117232405-T-G c.2184T>G p.S728= Synonymous 14/27 - 1
7-117232407-A-C c.2186A>C p.D729A Missense 14/27 - 1
7-117232409-G-T c.2188G>T p.E730* Nonsense 14/27 - 1
7-117232413-C-T c.2192C>T p.P731L Missense 14/27 - 2
7-117232416-T-G c.2195T>G p.L732* Nonsense 14/27 - 10
7-117232416-T-A c.2195T>A p.L732* Nonsense 14/27 - 5
7-117232416-T-C c.2195T>C p.L732S Missense 14/27 - 1
7-117232421-A-G c.2200A>G p.R734G Missense 14/27 - 1
7-117232424-A-T c.2203A>T p.R735W Missense 14/27 - 1
7-117232425-G-A c.2204G>A p.R735K Missense 14/27 - 1
7-117232429-G-GC c.2208_2209insC p.S737Lfs*7 Frameshift 14/27 - 1
7-117232430-T-G c.2209T>G p.S737A Missense 14/27 - 8
7-117232430-T-A c.2209T>A p.S737T Missense 14/27 - 1
7-117232430-TC-GA c.2209_2210inv p.S737D Missense 14/27 - 2
7-117232430-TCC-GAG c.2209_2211delinsGAG p.S737E Missense 14/27 - 1
7-117232431-C-T c.2210C>T p.S737F Missense 14/27 - 17
7-117232431-C-G c.2210C>G p.S737C Missense 14/27 - 1
7-117232435-A-C c.2214A>C p.L738F Missense 14/27 - 2
7-117232435-A-T c.2214A>T p.L738F Missense 14/27 - 1
7-117232436-G-A c.2215G>A p.V739I Missense 14/27 - 1
7-117232436-AG-A c.2215del p.V739Yfs*16 Frameshift 14/27 - 7
7-117232440-C-T c.2219C>T p.P740L Missense 14/27 - 1
7-117232442-G-A c.2221G>A p.D741N Missense 14/27 - 1
7-117232445-TCT-GAG c.2224_2226delinsGAG p.S742E Missense 14/27 - 3
7-117232445-T-G c.2224T>G p.S742A Missense 14/27 - 1
7-117232452-A-C c.2231A>C p.Q744P Missense 14/27 - 1
7-117232452-A-T c.2231A>T p.Q744L Missense 14/27 - 2
7-117232453-G-T c.2232G>T p.Q744H Missense 14/27 - 1
7-117232453-G-C c.2232G>C p.Q744H Missense 14/27 - 1
7-117232457-GAGGCGATACT-AAAAATC c.2236_2246delinsAAAAATC p.E746Kfs*8 Frameshift 14/27 - 1
7-117232456-AGAGGCGATACT-A c.2237_2247del p.E746Afs*29 Frameshift 14/27 - 1
7-117232461-C-T c.2240C>T p.A747V Missense 14/27 - 1
7-117232462-G-A c.2241G>A p.A747= Synonymous 14/27 - 2
7-117232462-G-C c.2241G>C p.A747= Synonymous 14/27 - 1
7-117232462-G-T c.2241G>T p.A747= Synonymous 14/27 - 1
7-117232466-C-T c.2245C>T p.L749= Synonymous 14/27 - 4
7-117232468-G-T c.2247G>T p.L749= Synonymous 14/27 - 1
7-117232468-G-A c.2247G>A p.L749= Synonymous 14/27 - 1
7-117232468-G-C c.2247G>C p.L749= Synonymous 14/27 - 2
7-117232470-C-T c.2249C>T p.P750L Missense 14/27 - 13
7-117232472-C-T c.2251C>T p.R751C Missense 14/27 - 4
7-117232473-G-A c.2252G>A p.R751H Missense 14/27 - 1
7-117232473-G-C c.2252G>C p.R751P Missense 14/27 - 3
7-117232473-G-T c.2252G>T p.R751L Missense 14/27 - 7
7-117232474-C-T c.2253C>T p.R751= Synonymous 14/27 - 1
7-117232475-A-G c.2254A>G p.I752V Missense 14/27 - 1
7-117232476-T-G c.2255T>G p.I752S Missense 14/27 - 2
7-117232476-T-C c.2255T>C p.I752T Missense 14/27 - 1
7-117232478-A-G c.2257A>G p.S753G Missense 14/27 - 1
7-117232478-AG-GC c.2257_2258delinsGC p.S753A Missense 14/27 - 2
7-117232479-G-A c.2258G>A p.S753N Missense 14/27 - 1
7-117232480-C-G c.2259C>G p.S753R Missense 14/27 - 2
7-117232480-C-T c.2259C>T p.S753= Synonymous 14/27 - 1
7-117232480-C-A c.2259C>A p.S753R Missense 14/27 - 1
7-117232478-A-C c.2257A>C p.S753R Missense 14/27 - 1
7-117232481-G-A c.2260G>A p.V754M Missense 14/27 - 25
7-117232481-G-T c.2260G>T p.V754L Missense 14/27 - 1
7-117232482-GT-G c.2261del p.V754Gfs*17 Frameshift 14/27 - 1
7-117232483-G-C c.2262G>C p.V754= Synonymous 14/27 - 1
7-117232483-G-A c.2262G>A p.V754= Synonymous 14/27 - 1
7-117232483-G-T c.2262G>T p.V754= Synonymous 14/27 - 1
7-117232484-A-T c.2263A>T p.I755F Missense 14/27 - 1
7-117232487-A-T c.2266A>T p.S756C Missense 14/27 - 1
7-117232491-C-G c.2270C>G p.T757S Missense 14/27 - 1
7-117232500-C-T c.2279C>T p.T760M Missense 14/27 - 4
7-117232500-C-G c.2279C>G p.T760R Missense 14/27 - 1
7-117232501-G-A c.2280G>A p.T760= Synonymous 14/27 - 2
7-117232502-CTT-TAA c.2281_2283delinsTAA p.L761* Nonsense 14/27 - 1
7-117232505-C-T c.2284C>T p.Q762* Nonsense 14/27 - 1
7-117232511-C-T c.2290C>T p.R764* Nonsense 14/27 - 23
7-117232511-CG-GC c.2290_2291delinsGC p.R764A Missense 14/27 - 1
7-117232512-G-A c.2291G>A p.R764Q Missense 14/27 - 1
7-117232514-A-G c.2293A>G p.R765G Missense 14/27 - 1
7-117232515-G-A c.2294G>A p.R765K Missense 14/27 - 1
7-117232516-G-C c.2295G>C p.R765S Missense 14/27 - 1
7-117232516-G-T c.2295G>T p.R765S Missense 14/27 - 1
7-117232517-AG-GC c.2296_2297delinsGC p.R766A Missense 14/27 - 1
7-117232518-G-A c.2297G>A p.R766K Missense 14/27 - 9
7-117232518-G-C c.2297G>C p.R766T Missense 14/27 - 2
7-117232518-G-T c.2297G>T p.R766M Missense 14/27 - 7
7-117232522-G-C c.2301G>C p.Q767H Missense 14/27 - 1
7-117232523-T-G c.2302T>G p.S768A Missense 14/27 - 9
7-117232523-TC-GA c.2302_2303inv p.S768D Missense 14/27 - 5
7-117232523-T-A c.2302T>A p.S768T Missense 14/27 - 1
7-117232523-TC-CG c.2302_2303delinsCG p.S768R Missense 14/27 - 1
7-117232523-TCT-GAG c.2302_2304delinsGAG p.S768E Missense 14/27 - 1
7-117232524-C-T c.2303C>T p.S768F Missense 14/27 - 1
7-117232524-C-G c.2303C>G p.S768C Missense 14/27 - 2
7-117232526-G-A c.2305G>A p.V769I Missense 14/27 - 2
7-117232526-GT-TG c.2305_2306delinsTG p.V769C Missense 14/27 - 1
7-117232527-T-C c.2306T>C p.V769A Missense 14/27 - 1
7-117232528-C-G c.2307C>G p.V769= Synonymous 14/27 - 1
7-117232530-T-C c.2309T>C p.L770P Missense 14/27 - 1
7-117232531-GA-G c.2312del p.N771Tfs*2 Frameshift 14/27 - 1
7-117232533-A-T c.2312A>T p.N771I Missense 14/27 - 1
7-117232534-C-T c.2313C>T p.N771= Synonymous 14/27 - 1
7-117232542-C-T c.2321C>T p.T774I Missense 14/27 - 1
7-117232543-A-T c.2322A>T p.T774= Synonymous 14/27 - 1
7-117232544-C-T c.2323C>T p.H775Y Missense 14/27 - 2
7-117232544-CA-TG c.2323_2324inv p.H775C Missense 14/27 - 1
7-117232544-CA-AC c.2323_2324delinsAC p.H775T Missense 14/27 - 1
7-117232544-CA-GC c.2323_2324delinsGC p.H775A Missense 14/27 - 1
7-117232545-A-G c.2324A>G p.H775R Missense 14/27 - 1
7-117232548-C-G c.2327C>G p.S776* Nonsense 14/27 - 1
7-117232548-C-T c.2327C>T p.S776L Missense 14/27 - 1
7-117232548-C-CA c.2328dup p.V777Sfs*2 Frameshift 14/27 - 2
7-117232556-C-T c.2335C>T p.Q779* Nonsense 14/27 - 2
7-117232564-G-C c.2343G>C p.Q781H Missense 14/27 - 1
7-117232568-A-G c.2347A>G p.I783V Missense 14/27 - 2
7-117232568-A-AT c.2349dup p.H784Sfs*21 Frameshift 14/27 - 1
7-117232572-A-G c.2351A>G p.H784R Missense 14/27 - 1
7-117232573-C-A c.2352C>A p.H784Q Missense 14/27 - 1
7-117232573-C-G c.2352C>G p.H784Q Missense 14/27 - 1
7-117232574-C-T c.2353C>T p.R785* Nonsense 14/27 - 21
7-117232575-G-A c.2354G>A p.R785Q Missense 14/27 - 3
7-117232575-G-C c.2354G>C p.R785P Missense 14/27 - 1
7-117232579-G-A c.2358G>A p.K786= Synonymous 14/27 - 1
7-117232579-G-C c.2358G>C p.K786N Missense 14/27 - 1
7-117232580-A-G c.2359A>G p.T787A Missense 14/27 - 1
7-117232585-A-T c.2364A>T p.T788= Synonymous 14/27 - 1
7-117232586-G-T c.2365G>T p.A789S Missense 14/27 - 1
7-117232586-GCA-TGT c.2365_2367delinsTGT p.A789C Missense 14/27 - 1
7-117232589-T-G c.2368T>G p.S790A Missense 14/27 - 4
7-117232592-A-G c.2371A>G p.T791A Missense 14/27 - 2
7-117232594-A-C c.2373A>C p.T791= Synonymous 14/27 - 1
7-117232594-A-G c.2373A>G p.T791= Synonymous 14/27 - 2
7-117232595-C-T c.2374C>T p.R792* Nonsense 14/27 - 13
7-117232595-C-G c.2374C>G p.R792G Missense 14/27 - 6
7-117232596-G-A c.2375G>A p.R792Q Missense 14/27 - 1
7-117232599-A-G c.2378A>G p.K793R Missense 14/27 - 1
7-117232600-A-G c.2379A>G p.K793= Synonymous 14/27 - 1
7-117232601-G-A c.2380G>A p.V794M Missense 14/27 - 1
7-117232601-G-C c.2380G>C p.V794L Missense 14/27 - 1
7-117232601-G-T c.2380G>T p.V794L Missense 14/27 - 1
7-117232604-T-G c.2383T>G p.S795A Missense 14/27 - 1
7-117232604-TC-GA c.2383_2384inv p.S795E Missense 14/27 - 1
7-117232608-T-C c.2387T>C p.L796P Missense 14/27 - 1
7-117232612-C-A c.2391C>A p.A797= Synonymous 14/27 - 1
7-117232612-C-G c.2391C>G p.A797= Synonymous 14/27 - 1
7-117232612-C-T c.2391C>T p.A797= Synonymous 14/27 - 1
7-117232613-C-G c.2392C>G p.P798A Missense 14/27 - 1
7-117232613-C-T c.2392C>T p.P798S Missense 14/27 - 2
7-117232614-C-T c.2393C>T p.P798L Missense 14/27 - 1
7-117232614-C-G c.2393C>G p.P798R Missense 14/27 - 1
7-117232616-C-A c.2395C>A p.Q799K Missense 14/27 - 1
7-117232616-C-T c.2395C>T p.Q799* Nonsense 14/27 - 1
7-117232616-C-G c.2395C>G p.Q799E Missense 14/27 - 1
7-117232619-G-T c.2398G>T p.A800S Missense 14/27 - 2
7-117232620-C-G c.2399C>G p.A800G Missense 14/27 - 3
7-117232620-C-T c.2399C>T p.A800V Missense 14/27 - 1
7-117232624-C-T c.2403C>T p.N801= Synonymous 14/27 - 1
7-117232624-C-G c.2403C>G p.N801K Missense 14/27 - 1
7-117232627-G-C c.2406G>C p.L802F Missense 14/27 - 1
7-117232630-T-C c.2409T>C p.T803= Synonymous 14/27 - 1
7-117232637-G-A c.2416G>A p.D806N Missense 14/27 - 1
7-117232638-A-G c.2417A>G p.D806G Missense 14/27 - 4
7-117232642-A-G c.2421A>G p.I807M Missense 14/27 - 21
7-117232644-A-G c.2423A>G p.Y808C Missense 14/27 - 1
7-117232637-G-GAT c.2423_2424dup p.S809Ifs*13 Frameshift 14/27 - 1
7-117232645-T-C c.2424T>C p.Y808= Synonymous 14/27 - 1
7-117232646-T-G c.2425T>G p.S809A Missense 14/27 - 5
7-117232646-TC-AG c.2425_2426delinsAG p.S809R Missense 14/27 - 1
7-117232649-A-G c.2428A>G p.R810G Missense 14/27 - 6
7-117232654-G-T c.2433G>T p.R811S Missense 14/27 - 2
7-117232658-T-G c.2437T>G p.S813A Missense 14/27 - 2
7-117232658-T-C c.2437T>C p.S813P Missense 14/27 - 2
7-117232658-TCT-GAG c.2437_2439delinsGAG p.S813E Missense 14/27 - 1
7-117232661-C-T c.2440C>T p.Q814* Nonsense 14/27 - 1
7-117232662-A-T c.2441A>T p.Q814L Missense 14/27 - 1
7-117232662-A-C c.2441A>C p.Q814P Missense 14/27 - 3
7-117232664-G-A c.2443G>A p.E815K Missense 14/27 - 1
7-117232664-G-T c.2443G>T p.E815* Nonsense 14/27 - 1
7-117232671-G-T c.2450G>T p.G817V Missense 14/27 - 2
7-117232673-T-C c.2452T>C p.L818= Synonymous 14/27 - 1
7-117232672-CT-C c.2453del p.L818Wfs*3 Frameshift 14/27 - 3
7-117232675-G-A c.2454G>A p.L818= Synonymous 14/27 - 1
7-117232676-G-T c.2455G>T p.E819* Nonsense 14/27 - 2
7-117232681-A-T c.2460A>T p.I820= Synonymous 14/27 - 1
7-117232685-G-T c.2464G>T p.E822* Nonsense 14/27 - 15
7-117232685-G-A c.2464G>A p.E822K Missense 14/27 - 7
7-117232686-A-C c.2465A>C p.E822A Missense 14/27 - 1
7-117232690-A-T c.2469A>T p.E823D Missense 14/27 - 1
7-117232696-C-T c.2475C>T p.N825= Synonymous 14/27 - 1
7-117232697-G-A c.2476G>A p.E826K Missense 14/27 - 7
7-117232697-G-T c.2476G>T p.E826* Nonsense 14/27 - 2
7-117232698-A-C c.2477A>C p.E826A Missense 14/27 - 1
7-117232699-A-C c.2478A>C p.E826D Missense 14/27 - 1
7-117232700-G-C c.2479G>C p.E827Q Missense 14/27 - 1
7-117232703-G-A c.2482G>A p.D828N Missense 14/27 - 1
7-117232704-A-G c.2483A>G p.D828G Missense 14/27 - 1
7-117232704-A-C c.2483A>C p.D828A Missense 14/27 - 1
7-117232705-C-A c.2484C>A p.D828E Missense 14/27 - 1
7-117232707-T-A c.2486T>A p.L829* Nonsense 14/27 - 1
7-117232707-T-G c.2486T>G p.L829* Nonsense 14/27 - 1
7-117232709-A-T c.2488A>T p.K830* Nonsense 14/27 - 1
7-117232711-G-A c.2490G>A p.K830= Synonymous 14/27 - 1
7-117232711-G-GT c.2490_2490+1insT p.E831* SpliceDonorInsertion - - 1
7-117232712-G-A c.2490+1G>A - IntronicSNV - 14/26 4
7-117232712-G-T c.2490+1G>T - IntronicSNV - 14/26 1
7-117232713-T-C c.2490+2T>C - IntronicSNV - 14/26 3
7-117232709-AAGGT-A c.2490+4_2490+7del - IntronicDeletion - 14/26 1
7-117232716-G-T c.2490+5G>T - IntronicSNV - 14/26 1
7-117232725-G-T c.2490+14G>T - IntronicSNV - 14/26 1
7-117232725-G-C c.2490+14G>C - IntronicSNV - 14/26 1
7-117234398-T-A c.2491-586T>A - IntronicSNV - 14/26 1
7-117234984-G-T c.2491G>T p.E831* Nonsense 15/27 - 40
7-117234981-CAGG-C c.2491_2493del p.E831del InFrameDeletion 15/27 - 2
7-117234984-G-C c.2491G>C p.E831Q Missense 15/27 - 1
7-117234985-A-C c.2492A>C p.E831A Missense 15/27 - 1
7-117234987-T-A c.2494T>A p.C832S Missense 15/27 - 5
7-117234987-T-G c.2494T>G p.C832G Missense 15/27 - 2
7-117234988-G-C c.2495G>C p.C832S Missense 15/27 - 4
7-117234987-TG-GC c.2494_2495delinsGC p.C832A Missense 15/27 - 3
7-117234988-G-A c.2495G>A p.C832Y Missense 15/27 - 1
7-117234990-T-C c.2497T>C p.F833L Missense 15/27 - 3
7-117234992-T-A c.2499T>A p.F833L Missense 15/27 - 3
7-117234992-T-G c.2499T>G p.F833L Missense 15/27 - 3
7-117234993-T-C c.2500T>C p.F834L Missense 15/27 - 1
7-117234995-T-A c.2502T>A p.F834L Missense 15/27 - 1
7-117234995-T-G c.2502T>G p.F834L Missense 15/27 - 2
7-117234989-CT-C c.2502del p.F834Lfs*10 Frameshift 15/27 - 1
7-117234996-GA-CG c.2503_2504delinsCG p.D835R Missense 15/27 - 1
7-117234997-A-T c.2504A>T p.D835V Missense 15/27 - 1
7-117234997-A-C c.2504A>C p.D835A Missense 15/27 - 2
7-117234998-T-C c.2505T>C p.D835= Synonymous 15/27 - 1
7-117234999-G-T c.2506G>T p.D836Y Missense 15/27 - 12
7-117234999-GA-TG c.2506_2507delinsTG p.D836C Missense 15/27 - 1
7-117234999-GA-CG c.2506_2507delinsCG p.D836R Missense 15/27 - 1
7-117234999-GAT-TAA c.2506_2508delinsTAA p.D836* Nonsense 15/27 - 2
7-117234999-G-A c.2506G>A p.D836N Missense 15/27 - 1
7-117235000-A-C c.2507A>C p.D836A Missense 15/27 - 2
7-117235002-AT-TA c.2509_2510delinsTA p.M837* Nonsense 15/27 - 1
7-117235003-T-C c.2510T>C p.M837T Missense 15/27 - 3
7-117235004-G-C c.2511G>C p.M837I Missense 15/27 - 1
7-117235004-G-A c.2511G>A p.M837I Missense 15/27 - 1
7-117235004-G-T c.2511G>T p.M837I Missense 15/27 - 1
7-117235005-G-A c.2512G>A p.E838K Missense 15/27 - 1
7-117235005-GA-AG c.2512_2513delinsAG p.E838R Missense 15/27 - 1
7-117235006-A-C c.2513A>C p.E838A Missense 15/27 - 1
7-117235007-G-A c.2514G>A p.E838= Synonymous 15/27 - 1
7-117235009-G-T c.2516G>T p.S839I Missense 15/27 - 2
7-117235015-C-T c.2522C>T p.P841L Missense 15/27 - 1
7-117235015-C-G c.2522C>G p.P841R Missense 15/27 - 1
7-117235016-A-G c.2523A>G p.P841= Synonymous 15/27 - 1
7-117235018-C-A c.2525C>A p.A842E Missense 15/27 - 1
7-117235019-A-G c.2526A>G p.A842= Synonymous 15/27 - 1
7-117235020-G-A c.2527G>A p.V843M Missense 15/27 - 1
7-117235027-C-T c.2534C>T p.T845I Missense 15/27 - 1
7-117235030-G-A c.2537G>A p.W846* Nonsense 15/27 - 13
7-117235030-G-T c.2537G>T p.W846L Missense 15/27 - 1
7-117235031-G-A c.2538G>A p.W846* Nonsense 15/27 - 12
7-117235032-AA-GC c.2539_2540delinsGC p.N847A Missense 15/27 - 1
7-117235033-A-G c.2540A>G p.N847S Missense 15/27 - 4
7-117235037-A-T c.2544A>T p.T848= Synonymous 15/27 - 1
7-117235037-A-G c.2544A>G p.T848= Synonymous 15/27 - 1
7-117235039-A-G c.2546A>G p.Y849C Missense 15/27 - 1
7-117235040-C-A c.2547C>A p.Y849* Nonsense 15/27 - 12
7-117235040-C-G c.2547C>G p.Y849* Nonsense 15/27 - 4
7-117235040-C-T c.2547C>T p.Y849= Synonymous 15/27 - 1
7-117235044-C-T c.2551C>T p.R851* Nonsense 15/27 - 13
7-117235044-C-G c.2551C>G p.R851G Missense 15/27 - 1
7-117235045-G-T c.2552G>T p.R851L Missense 15/27 - 4
7-117235045-G-A c.2552G>A p.R851Q Missense 15/27 - 6
7-117235046-A-AT c.2554dup p.Y852Lfs*44 Frameshift 15/27 - 1
7-117235048-A-T c.2555A>T p.Y852F Missense 15/27 - 2
7-117235050-A-G c.2557A>G p.I853V Missense 15/27 - 1
7-117235050-A-T c.2557A>T p.I853F Missense 15/27 - 3
7-117235052-T-C c.2559T>C p.I853= Synonymous 15/27 - 4
7-117235052-T-A c.2559T>A p.I853= Synonymous 15/27 - 2
7-117235053-A-G c.2560A>G p.T854A Missense 15/27 - 1
7-117235054-C-T c.2561C>T p.T854I Missense 15/27 - 1
7-117235054-C-A c.2561C>A p.T854N Missense 15/27 - 1
7-117235055-T-G c.2562T>G p.T854= Synonymous 15/27 - 32
7-117235055-T-C c.2562T>C p.T854= Synonymous 15/27 - 3
7-117235055-T-A c.2562T>A p.T854= Synonymous 15/27 - 20
7-117235056-G-A c.2563G>A p.V855I Missense 15/27 - 4
7-117235057-T-C c.2564T>C p.V855A Missense 15/27 - 1
7-117235058-C-CCTA c.2566_2567insTAC p.V855_H856insL InFrameInsertion 15/27 - 1
7-117235061-C-T c.2568C>T p.H856= Synonymous 15/27 - 1
7-117235061-CA-C c.2570del p.K857Rfs*3 Frameshift 15/27 - 1
7-117235064-G-A c.2571G>A p.K857= Synonymous 15/27 - 1
7-117235064-G-C c.2571G>C p.K857N Missense 15/27 - 1
7-117235063-A-AG c.2571dup p.S858Efs*38 Frameshift 15/27 - 1
7-117235065-A-T c.2572A>T p.S858C Missense 15/27 - 1
7-117235066-G-A c.2573G>A p.S858N Missense 15/27 - 1
7-117235070-A-C c.2577A>C p.L859F Missense 15/27 - 1
7-117235070-A-G c.2577A>G p.L859= Synonymous 15/27 - 1
7-117235071-A-C c.2578A>C p.I860L Missense 15/27 - 1
7-117235071-AT-TG c.2578_2579delinsTG p.I860C Missense 15/27 - 1
7-117235071-AT-A c.2583del p.F861Lfs*3 Frameshift 15/27 - 2
7-117235077-G-T c.2584G>T p.V862L Missense 15/27 - 1
7-117235077-GTG-TGT c.2584_2586delinsTGT p.V862C Missense 15/27 - 1
7-117235081-T-C c.2588T>C p.L863P Missense 15/27 - 1
7-117235076-TGTGCTAATTTG-T c.2589_2599del p.I864Sfs*28 Frameshift 15/27 - 2
7-117235083-ATT-A c.2592_2593del p.I864Mfs*31 Frameshift 15/27 - 1
7-117235089-TG-AC c.2596_2597delinsAC p.C866T Missense 15/27 - 1
7-117235089-T-A c.2596T>A p.C866S Missense 15/27 - 3
7-117235090-G-C c.2597G>C p.C866S Missense 15/27 - 3
7-117235090-G-A c.2597G>A p.C866Y Missense 15/27 - 3
7-117235093-T-TA c.2601dup p.V868Sfs*28 Frameshift 15/27 - 1
7-117235095-G-A c.2602G>A p.V868I Missense 15/27 - 2
7-117235097-A-G c.2604A>G p.V868= Synonymous 15/27 - 3
7-117235099-T-C c.2606T>C p.I869T Missense 15/27 - 1
7-117235108-C-T c.2615C>T p.A872V Missense 15/27 - 1
7-117235110-G-T c.2617G>T p.E873* Nonsense 15/27 - 1
7-117235110-G-C c.2617G>C p.E873Q Missense 15/27 - 1
7-117235111-A-T c.2618A>T p.E873V Missense 15/27 - 1
7-117235112-G-C c.2619G>C p.E873D Missense 15/27 - 2
7-117235113-G-GT c.2619+2dup - IntronicInsertion - 15/26 1
7-117235115-A-G c.2619+3A>G - IntronicSNV - 15/26 1
7-117235120-T-C c.2619+8T>C - IntronicSNV - 15/26 1
7-117235196-CAT-C c.2619+86_2619+87del - IntronicDeletion - 15/26 2
7-117235218-T-A c.2619+106T>A - IntronicSNV - 15/26 1
7-117238379-T-G c.2619+3267T>G - IntronicSNV - 15/26 2
7-117238445-T-G c.2619+3333T>G - IntronicSNV - 15/26 1
7-117238453-A-C c.2619+3341A>C - IntronicSNV - 15/26 1
7-117238790-C-T c.2619+3678C>T - IntronicSNV - 15/26 1
7-117239592-A-C c.2620-3288A>C - IntronicSNV - 15/26 1
7-117240668-A-T c.2620-2212A>T - IntronicSNV - 15/26 1
7-117241031-C-A c.2620-1849C>A - IntronicSNV - 15/26 1
7-117241031-C-G c.2620-1849C>G - IntronicSNV - 15/26 1
7-117241031-C-T c.2620-1849C>T - IntronicSNV - 15/26 1
7-117242783-C-T c.2620-97C>T - IntronicSNV - 15/26 1
7-117242854-A-G c.2620-26A>G - IntronicSNV - 15/26 1
7-117242865-C-G c.2620-15C>G - IntronicSNV - 15/26 2
7-117242874-T-C c.2620-6T>C - IntronicSNV - 15/26 1
7-117242880-G-C c.2620G>C p.V874L Missense 16/27 - 1
7-117242883-G-T c.2623G>T p.A875S Missense 16/27 - 1
7-117242887-C-T c.2627C>T p.A876V Missense 16/27 - 1
7-117242889-T-G c.2629T>G p.S877A Missense 16/27 - 3
7-117242890-TC-T c.2630del p.S877Ffs*29 Frameshift 16/27 - 1
7-117242890-C-G c.2630C>G p.S877C Missense 16/27 - 1
7-117242894-GGTTGTGCT-G c.2637_2644del p.V880Afs*13 Frameshift 16/27 - 1
7-117242898-GTG-TGT c.2638_2640delinsTGT p.V880C Missense 16/27 - 1
7-117242903-G-T c.2643G>T p.L881= Synonymous 16/27 - 1
7-117242903-G-A c.2643G>A p.L881= Synonymous 16/27 - 1
7-117242903-G-C c.2643G>C p.L881= Synonymous 16/27 - 1
7-117242901-C-T c.2641C>T p.L881= Synonymous 16/27 - 1
7-117242905-G-A c.2645G>A p.W882* Nonsense 16/27 - 5
7-117242906-G-A c.2646G>A p.W882* Nonsense 16/27 - 5
7-117242907-C-T c.2647C>T p.L883F Missense 16/27 - 1
7-117242907-GCTCC-G c.2647_2650del p.L884Efs*21 Frameshift 16/27 - 1
7-117242914-G-T c.2654G>T p.G885V Missense 16/27 - 1
7-117242919-T-TA c.2657+2_2657+3insA - IntronicInsertion - 16/26 1
7-117242920-G-T c.2657+3G>T - IntronicSNV - 16/26 1
7-117242920-TG-T c.2657+3del - IntronicDeletion - 16/26 1
7-117242920-G-A c.2657+3G>A - IntronicSNV - 16/26 1
7-117242922-G-A c.2657+5G>A - IntronicSNV - 16/26 41
7-117243585-G-C c.2658-1G>C - IntronicSNV - 16/26 1
7-117243585-G-T c.2658-1G>T - IntronicSNV - 16/26 1
7-117243587-A-C c.2659A>C p.T887P Missense 17/27 - 2
7-117243588-C-A c.2660C>A p.T887N Missense 17/27 - 1
7-117243591-C-A c.2663C>A p.P888H Missense 17/27 - 1
7-117243593-C-G c.2665C>G p.L889V Missense 17/27 - 1
7-117243593-C-T c.2665C>T p.L889F Missense 17/27 - 1
7-117243596-C-T c.2668C>T p.Q890* Nonsense 17/27 - 17
7-117243597-A-G c.2669A>G p.Q890R Missense 17/27 - 1
7-117243599-G-A c.2671G>A p.D891N Missense 17/27 - 1
7-117243599-GA-TG c.2671_2672delinsTG p.D891C Missense 17/27 - 1
7-117243600-GA-G c.2672del p.D891Afs*15 Frameshift 17/27 - 1
7-117243600-A-G c.2672A>G p.D891G Missense 17/27 - 3
7-117243601-C-G c.2673C>G p.D891E Missense 17/27 - 1
7-117243601-C-T c.2673C>T p.D891= Synonymous 17/27 - 1
7-117243602-A-C c.2674A>C p.K892Q Missense 17/27 - 2
7-117243602-AAA-TGT c.2674_2676delinsTGT p.K892C Missense 17/27 - 2
7-117243602-A-G c.2674A>G p.K892E Missense 17/27 - 1
7-117243605-G-A c.2677G>A p.G893R Missense 17/27 - 1
7-117243605-G-C c.2677G>C p.G893R Missense 17/27 - 1
7-117243607-G-T c.2679G>T p.G893= Synonymous 17/27 - 4
7-117243607-G-A c.2679G>A p.G893= Synonymous 17/27 - 2
7-117243607-G-C c.2679G>C p.G893= Synonymous 17/27 - 2
7-117243608-A-G c.2680A>G p.N894D Missense 17/27 - 6
7-117243608-AA-GC c.2680_2681delinsGC p.N894A Missense 17/27 - 2
7-117243608-AAT-CAA c.2680_2682delinsCAA p.N894Q Missense 17/27 - 1
7-117243609-A-G c.2681A>G p.N894S Missense 17/27 - 1
7-117243610-T-G c.2682T>G p.N894K Missense 17/27 - 1
7-117243612-G-A c.2684G>A p.S895N Missense 17/27 - 11
7-117243612-G-C c.2684G>C p.S895T Missense 17/27 - 3
7-117243615-C-T c.2687C>T p.T896I Missense 17/27 - 2
7-117243617-C-T c.2689C>T p.H897Y Missense 17/27 - 1
7-117243620-A-C c.2692A>C p.S898R Missense 17/27 - 1
7-117243622-T-G c.2694T>G p.S898R Missense 17/27 - 2
7-117243623-AG-CA c.2695_2696delinsCA p.R899Q Missense 17/27 - 2
7-117243623-AGA-TGT c.2695_2697delinsTGT p.R899C Missense 17/27 - 1
7-117243623-AG-GA c.2695_2696delinsGA p.R899E Missense 17/27 - 1
7-117243624-G-C c.2696G>C p.R899T Missense 17/27 - 1
7-117243624-G-A c.2696G>A p.R899K Missense 17/27 - 1
7-117243626-A-G c.2698A>G p.N900D Missense 17/27 - 5
7-117243626-AA-GC c.2698_2699delinsGC p.N900A Missense 17/27 - 2
7-117243626-AAT-CAA c.2698_2700delinsCAA p.N900Q Missense 17/27 - 1
7-117243628-T-G c.2700T>G p.N900K Missense 17/27 - 1
7-117243628-T-A c.2700T>A p.N900K Missense 17/27 - 2
7-117243630-A-T c.2702A>T p.N901I Missense 17/27 - 1
7-117243631-C-T c.2703C>T p.N901= Synonymous 17/27 - 1
7-117243635-T-C c.2707T>C p.Y903H Missense 17/27 - 1
7-117243636-A-G c.2708A>G p.Y903C Missense 17/27 - 1
7-117243636-A-T c.2708A>T p.Y903F Missense 17/27 - 1
7-117243641-G-C c.2713G>C p.V905L Missense 17/27 - 2
7-117243647-A-G c.2719A>G p.I907V Missense 17/27 - 1
7-117243648-T-G c.2720T>G p.I907S Missense 17/27 - 1
7-117243649-C-T c.2721C>T p.I907= Synonymous 17/27 - 1
7-117243649-C-A c.2721C>A p.I907= Synonymous 17/27 - 1
7-117243651-C-A c.2723C>A p.T908N Missense 17/27 - 4
7-117243651-C-G c.2723C>G p.T908S Missense 17/27 - 1
7-117243650-A-T c.2722A>T p.T908S Missense 17/27 - 1
7-117243653-A-T c.2725A>T p.S909C Missense 17/27 - 1
7-117243654-G-T c.2726G>T p.S909I Missense 17/27 - 1
7-117243657-C-G c.2729C>G p.T910S Missense 17/27 - 1
7-117243660-G-A c.2732G>A p.S911N Missense 17/27 - 1
7-117243660-G-C c.2732G>C p.S911T Missense 17/27 - 1
7-117243660-GTTCGTATTATGTGTTTTACATTTACGTGGGAGTAGCCGACACTTTGCTTGCTATGGGAT-G c.2734_2792del p.S912Lfs*43 InFrameDeletion 17/27 - 1
7-117243663-C-A c.2735C>A p.S912* Nonsense 17/27 - 11
7-117243663-C-T c.2735C>T p.S912L Missense 17/27 - 15
7-117243663-C-G c.2735C>G p.S912W Missense 17/27 - 1
7-117243664-G-A c.2736G>A p.S912= Synonymous 17/27 - 1
7-117243664-G-C c.2736G>C p.S912= Synonymous 17/27 - 2
7-117243664-G-T c.2736G>T p.S912= Synonymous 17/27 - 1
7-117243665-T-TG c.2737_2738insG p.Y913* Nonsense 17/27 - 5
7-117243666-A-G c.2738A>G p.Y913C Missense 17/27 - 4
7-117243667-T-A c.2739T>A p.Y913* Nonsense 17/27 - 7
7-117243667-T-G c.2739T>G p.Y913* Nonsense 17/27 - 4
7-117243670-T-C c.2742T>C p.Y914= Synonymous 17/27 - 1
7-117243671-G-C c.2743G>C p.V915L Missense 17/27 - 2
7-117243675-T-A c.2747T>A p.F916Y Missense 17/27 - 1
7-117243676-T-C c.2748T>C p.F916= Synonymous 17/27 - 1
7-117243677-T-G c.2749T>G p.Y917D Missense 17/27 - 1
7-117243678-A-G c.2750A>G p.Y917C Missense 17/27 - 2
7-117243680-A-G c.2752A>G p.I918V Missense 17/27 - 1
7-117243681-T-A c.2753T>A p.I918N Missense 17/27 - 1
7-117243684-A-G c.2756A>G p.Y919C Missense 17/27 - 4
7-117243686-G-C c.2758G>C p.V920L Missense 17/27 - 1
7-117243686-G-T c.2758G>T p.V920L Missense 17/27 - 4
7-117243686-G-A c.2758G>A p.V920M Missense 17/27 - 7
7-117243688-G-A c.2760G>A p.V920= Synonymous 17/27 - 1
7-117243689-G-A c.2761G>A p.G921R Missense 17/27 - 1
7-117243689-G-C c.2761G>C p.G921R Missense 17/27 - 1
7-117243690-G-A c.2762G>A p.G921E Missense 17/27 - 1
7-117243689-G-GGA c.2763_2764dup p.V922Efs*2 Frameshift 17/27 - 1
7-117243694-A-G c.2766A>G p.V922= Synonymous 17/27 - 1
7-117243694-TA-T c.2766del p.A923Pfs*19 Frameshift 17/27 - 1
7-117243696-C-A c.2768C>A p.A923D Missense 17/27 - 1
7-117243697-C-T c.2769C>T p.A923= Synonymous 17/27 - 2
7-117243698-G-A c.2770G>A p.D924N Missense 17/27 - 10
7-117243698-G-C c.2770G>C p.D924H Missense 17/27 - 2
7-117243698-GA-CG c.2770_2771delinsCG p.D924R Missense 17/27 - 4
7-117243699-A-G c.2771A>G p.D924G Missense 17/27 - 2
7-117243699-A-T c.2771A>T p.D924V Missense 17/27 - 2
7-117243699-A-C c.2771A>C p.D924A Missense 17/27 - 1
7-117243700-C-G c.2772C>G p.D924E Missense 17/27 - 2
7-117243700-C-A c.2772C>A p.D924E Missense 17/27 - 2
7-117243702-C-A c.2774C>A p.T925N Missense 17/27 - 1
7-117243702-C-T c.2774C>T p.T925I Missense 17/27 - 1
7-117243705-T-G c.2777T>G p.L926W Missense 17/27 - 2
7-117243705-T-C c.2777T>C p.L926S Missense 17/27 - 1
7-117243706-G-T c.2778G>T p.L926F Missense 17/27 - 1
7-117243708-T-C c.2780T>C p.L927P Missense 17/27 - 12
7-117243708-T-A c.2780T>A p.L927H Missense 17/27 - 1
7-117243710-G-C c.2782G>C p.A928P Missense 17/27 - 1
7-117243711-C-A c.2783C>A p.A928D Missense 17/27 - 1
7-117243716-G-T c.2788G>T p.G930* Nonsense 17/27 - 1
7-117243719-TT-GC c.2791_2792delinsGC p.F931A Missense 17/27 - 1
7-117243721-C-T c.2793C>T p.F931= Synonymous 17/27 - 2
7-117243722-T-C c.2794T>C p.F932L Missense 17/27 - 1
7-117243724-C-A c.2796C>A p.F932L Missense 17/27 - 1
7-117243724-C-G c.2796C>G p.F932L Missense 17/27 - 1
7-117243723-T-C c.2795T>C p.F932S Missense 17/27 - 1
7-117243725-A-G c.2797A>G p.R933G Missense 17/27 - 2
7-117243725-AG-GA c.2797_2798delinsGA p.R933E Missense 17/27 - 1
7-117243728-G-A c.2800G>A p.G934S Missense 17/27 - 2
7-117243732-T-A c.2804T>A p.L935Q Missense 17/27 - 1
7-117243733-A-G c.2805A>G p.L935= Synonymous 17/27 - 2
7-117243733-TA-T c.2805del p.P936Hfs*6 Frameshift 17/27 - 1
7-117243734-C-A c.2806C>A p.P936T Missense 17/27 - 1
7-117243735-C-T c.2807C>T p.P936L Missense 17/27 - 1
7-117243737-C-CT c.2810dup p.V938Gfs*37 Frameshift 17/27 - 1
7-117243739-G-T c.2811G>T p.L937= Synonymous 17/27 - 1
7-117243738-T-TG c.2812dup p.V938Gfs*37 Frameshift 17/27 - 1
7-117243740-G-A c.2812G>A p.V938M Missense 17/27 - 2
7-117243740-G-C c.2812G>C p.V938L Missense 17/27 - 1
7-117243740-G-T c.2812G>T p.V938L Missense 17/27 - 2
7-117243741-T-G c.2813T>G p.V938G Missense 17/27 - 6
7-117243743-C-G c.2815C>G p.H939D Missense 17/27 - 2
7-117243744-A-G c.2816A>G p.H939R Missense 17/27 - 7
7-117243744-A-T c.2816A>T p.H939L Missense 17/27 - 1
7-117243745-T-A c.2817T>A p.H939Q Missense 17/27 - 1
7-117243746-A-G c.2818A>G p.T940A Missense 17/27 - 1
7-117243746-AC-GA c.2818_2819delinsGA p.T940D Missense 17/27 - 1
7-117243748-T-G c.2820T>G p.T940= Synonymous 17/27 - 1
7-117243749-CT-TA c.2821_2822delinsTA p.L941* Nonsense 17/27 - 1
7-117243749-CTA-TGT c.2821_2823delinsTGT p.L941C Missense 17/27 - 1
7-117243750-CT-C c.2822del p.L941Qfs*27 Frameshift 17/27 - 1
7-117243752-AT-TG c.2824_2825delinsTG p.I942C Missense 17/27 - 1
7-117243752-ATC-TAA c.2824_2826delinsTAA p.I942* Nonsense 17/27 - 1
7-117243754-C-T c.2826C>T p.I942= Synonymous 17/27 - 1
7-117243755-ACA-TGT c.2827_2829inv p.T943C Missense 17/27 - 1
7-117243753-TCA-T c.2828_2829del p.T943Sfs*31 Frameshift 17/27 - 1
7-117243756-C-T c.2828C>T p.T943I Missense 17/27 - 1
7-117243758-GTG-TGT c.2830_2832delinsTGT p.V944C Missense 17/27 - 1
7-117243759-T-C c.2831T>C p.V944A Missense 17/27 - 1
7-117243760-G-A c.2832G>A p.V944= Synonymous 17/27 - 1
7-117243760-G-T c.2832G>T p.V944= Synonymous 17/27 - 2
7-117243762-C-T c.2834C>T p.S945L Missense 17/27 - 50
7-117243762-CG-GT c.2834_2835delinsGT p.S945C Missense 17/27 - 1
7-117243763-G-A c.2835G>A p.S945= Synonymous 17/27 - 2
7-117243763-G-T c.2835G>T p.S945= Synonymous 17/27 - 1
7-117243763-G-C c.2835G>C p.S945= Synonymous 17/27 - 1
7-117243764-AAA-TGT c.2836_2838delinsTGT p.K946C Missense 17/27 - 3
7-117243764-A-C c.2836A>C p.K946Q Missense 17/27 - 1
7-117243764-A-G c.2836A>G p.K946E Missense 17/27 - 1
7-117243764-A-T c.2836A>T p.K946* Nonsense 17/27 - 1
7-117243764-AA-GC c.2836_2837delinsGC p.K946A Missense 17/27 - 2
7-117243764-AAA-GAC c.2836_2838delinsGAC p.K946D Missense 17/27 - 1
7-117243765-A-G c.2837A>G p.K946R Missense 17/27 - 1
7-117243767-AT-TG c.2839_2840delinsTG p.I947C Missense 17/27 - 1
7-117243770-TT-AG c.2842_2843delinsAG p.L948R Missense 17/27 - 1
7-117243771-TA-GT c.2843_2844delinsGT p.L948C Missense 17/27 - 1
7-117243772-A-T c.2844A>T p.L948F Missense 17/27 - 1
7-117243773-CA-TG c.2845_2846inv p.H949C Missense 17/27 - 2
7-117243773-C-T c.2845C>T p.H949Y Missense 17/27 - 6
7-117243774-A-G c.2846A>G p.H949R Missense 17/27 - 2
7-117243774-A-T c.2846A>T p.H949L Missense 17/27 - 4
7-117243774-A-C c.2846A>C p.H949P Missense 17/27 - 1
7-117243775-C-T c.2847C>T p.H949= Synonymous 17/27 - 1
7-117243776-CA-TG c.2848_2849inv p.H950C Missense 17/27 - 3
7-117243776-CA-GC c.2848_2849delinsGC p.H950A Missense 17/27 - 2
7-117243776-C-G c.2848C>G p.H950D Missense 17/27 - 2
7-117243777-A-G c.2849A>G p.H950R Missense 17/27 - 4
7-117243778-C-A c.2850C>A p.H950Q Missense 17/27 - 1
7-117243778-C-G c.2850C>G p.H950Q Missense 17/27 - 1
7-117243779-A-G c.2851A>G p.K951E Missense 17/27 - 1
7-117243779-AAA-TGT c.2851_2853delinsTGT p.K951C Missense 17/27 - 2
7-117243779-AA-GC c.2851_2852delinsGC p.K951A Missense 17/27 - 2
7-117243780-A-C c.2852A>C p.K951T Missense 17/27 - 1
7-117243780-A-G c.2852A>G p.K951R Missense 17/27 - 2
7-117243783-T-C c.2855T>C p.M952T Missense 17/27 - 10
7-117243784-G-C c.2856G>C p.M952I Missense 17/27 - 12
7-117243784-G-A c.2856G>A p.M952I Missense 17/27 - 11
7-117243784-G-T c.2856G>T p.M952I Missense 17/27 - 7
7-117243787-A-G c.2859A>G p.L953= Synonymous 17/27 - 1
7-117243788-C-T c.2860C>T p.H954Y Missense 17/27 - 3
7-117243788-CA-TG c.2860_2861inv p.H954C Missense 17/27 - 2
7-117243788-CA-GC c.2860_2861delinsGC p.H954A Missense 17/27 - 2
7-117243791-T-G c.2863T>G p.S955A Missense 17/27 - 2
7-117243791-T-C c.2863T>C p.S955P Missense 17/27 - 4
7-117243789-A-AT c.2863dup p.S955Ffs*20 Frameshift 17/27 - 1
7-117243792-C-T c.2864C>T p.S955F Missense 17/27 - 1
7-117243792-C-G c.2864C>G p.S955C Missense 17/27 - 1
7-117243794-GT-TG c.2866_2867delinsTG p.V956C Missense 17/27 - 1
7-117243797-C-T c.2869C>T p.L957F Missense 17/27 - 1
7-117243800-CA-GC c.2872_2873delinsGC p.Q958A Missense 17/27 - 2
7-117243800-CAA-GAC c.2872_2874delinsGAC p.Q958D Missense 17/27 - 1
7-117243801-A-G c.2873A>G p.Q958R Missense 17/27 - 1
7-117243802-A-G c.2874A>G p.Q958= Synonymous 17/27 - 1
7-117243803-G-A c.2875G>A p.A959T Missense 17/27 - 1
7-117243803-AG-A c.2875del p.A959Hfs*9 Frameshift 17/27 - 3
7-117243804-C-T c.2876C>T p.A959V Missense 17/27 - 4
7-117243806-C-T c.2878C>T p.P960S Missense 17/27 - 1
7-117243807-C-T c.2879C>T p.P960L