CBFB

CBFB core-binding factor subunit beta

Annotation transcript: NM_022845.3

500 unique variant annotations were identified in 294 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
16-67063312-T-C c.2T>C p.M1? Missense 1/6 - 1
16-67063313-G-A c.3G>A p.M1? Missense 1/6 - 6
16-67063313-G-C c.3G>C p.M1? Missense 1/6 - 2
16-67063313-G-T c.3G>T p.M1? Missense 1/6 - 2
16-67063314-C-T c.4C>T p.P2S Missense 1/6 - 1
16-67063316-G-A c.6G>A p.P2= Synonymous 1/6 - 1
16-67063316-G-C c.6G>C p.P2= Synonymous 1/6 - 1
16-67063316-G-T c.6G>T p.P2= Synonymous 1/6 - 1
16-67063318-GC-AA c.8_9delinsAA p.R3Q Missense 1/6 - 1
16-67063318-G-T c.8G>T p.R3L Missense 1/6 - 1
16-67063320-G-C c.10G>C p.V4L Missense 1/6 - 1
16-67063320-G-T c.10G>T p.V4F Missense 1/6 - 2
16-67063321-T-G c.11T>G p.V4G Missense 1/6 - 2
16-67063323-G-A c.13G>A p.V5M Missense 1/6 - 1
16-67063325-G-C c.15G>C p.V5= Synonymous 1/6 - 1
16-67063326-C-T c.16C>T p.P6S Missense 1/6 - 1
16-67063326-GCCCGACCAGAGAA-G c.16_28del p.P6Afs*12 Frameshift 1/6 - 1
16-67063327-C-T c.17C>T p.P6L Missense 1/6 - 1
16-67063328-C-G c.18C>G p.P6= Synonymous 1/6 - 1
16-67063328-C-T c.18C>T p.P6= Synonymous 1/6 - 1
16-67063330-A-C c.20A>C p.D7A Missense 1/6 - 2
16-67063332-C-T c.22C>T p.Q8* Nonsense 1/6 - 1
16-67063333-A-G c.23A>G p.Q8R Missense 1/6 - 1
16-67063334-G-C c.24G>C p.Q8H Missense 1/6 - 1
16-67063334-G-T c.24G>T p.Q8H Missense 1/6 - 1
16-67063336-G-A c.26G>A p.R9K Missense 1/6 - 5
16-67063337-A-AT c.27_28insT p.S10* Nonsense 1/6 - 1
16-67063338-AG-GC c.28_29delinsGC p.S10A Missense 1/6 - 3
16-67063338-A-T c.28A>T p.S10C Missense 1/6 - 2
16-67063341-A-T c.31A>T p.K11* Nonsense 1/6 - 1
16-67063343-G-A c.33G>A p.K11= Synonymous 1/6 - 1
16-67063344-T-C c.34T>C p.F12L Missense 1/6 - 1
16-67063344-TTC-AAG c.34_36delinsAAG p.F12K Missense 1/6 - 2
16-67063346-C-A c.36C>A p.F12L Missense 1/6 - 1
16-67063345-T-C c.35T>C p.F12S Missense 1/6 - 1
16-67063346-C-G c.36C>G p.F12L Missense 1/6 - 3
16-67063356-G-T c.46G>T p.E16* Nonsense 1/6 - 1
16-67063358-G-C c.48G>C p.E16D Missense 1/6 - 1
16-67063358-G-T c.48G>T p.E16D Missense 1/6 - 1
16-67063365-AG-TA c.55_56delinsTA p.R19* Nonsense 1/6 - 2
16-67063371-C-G c.61C>G p.L21V Missense 1/6 - 5
16-67063375-G-C c.65G>C p.S22T Missense 1/6 - 1
16-67063377-CG-GC c.67_68delinsGC p.R23A Missense 1/6 - 1
16-67063378-G-A c.68G>A p.R23H Missense 1/6 - 1
16-67063379-C-CT c.69_70insT p.E24* Nonsense 1/6 - 1
16-67063380-G-A c.70G>A p.E24K Missense 1/6 - 1
16-67063380-G-T c.70G>T p.E24* Nonsense 1/6 - 1
16-67063385-T-C c.75T>C p.C25= Synonymous 1/6 - 1
16-67063386-G-A c.76G>A p.E26K Missense 1/6 - 1
16-67063386-G-T c.76G>T p.E26* Nonsense 1/6 - 1
16-67063387-A-C c.77A>C p.E26A Missense 1/6 - 1
16-67063387-A-G c.77A>G p.E26G Missense 1/6 - 1
16-67063388-G-A c.78G>A p.E26= Synonymous 1/6 - 1
16-67063388-G-C c.78G>C p.E26D Missense 1/6 - 1
16-67063388-G-T c.78G>T p.E26D Missense 1/6 - 1
16-67063389-G-A c.78+1G>A - IntronicSNV - 1/5 4
16-67063389-G-T c.78+1G>T - IntronicSNV - 1/5 2
16-67063509-C-T c.78+121C>T - IntronicSNV - 1/5 1
16-67063612-G-T c.79-18G>T - IntronicSNV - 1/5 1
16-67063630-A-G c.79A>G p.I27V Missense 2/6 - 2
16-67063630-A-T c.79A>T p.I27F Missense 2/6 - 1
16-67063634-A-AG c.84dup p.Y29Vfs*54 Frameshift 2/6 - 1
16-67063635-G-C c.84G>C p.K28N Missense 2/6 - 1
16-67063635-G-T c.84G>T p.K28N Missense 2/6 - 1
16-67063636-T-C c.85T>C p.Y29H Missense 2/6 - 1
16-67063637-A-G c.86A>G p.Y29C Missense 2/6 - 1
16-67063637-TACACGGG-T c.86_92del p.Y29Sfs*58 Frameshift 2/6 - 1
16-67063641-G-A c.90G>A p.T30= Synonymous 2/6 - 1
16-67063641-G-C c.90G>C p.T30= Synonymous 2/6 - 1
16-67063641-G-T c.90G>T p.T30= Synonymous 2/6 - 1
16-67063642-G-A c.91G>A p.G31S Missense 2/6 - 1
16-67063645-T-A c.94T>A p.F32I Missense 2/6 - 1
16-67063646-T-C c.95T>C p.F32S Missense 2/6 - 1
16-67063646-T-G c.95T>G p.F32C Missense 2/6 - 3
16-67063648-A-G c.97A>G p.R33G Missense 2/6 - 1
16-67063650-G-A c.99G>A p.R33= Synonymous 2/6 - 3
16-67063651-G-T c.100G>T p.D34Y Missense 2/6 - 1
16-67063654-C-A c.103C>A p.R35= Synonymous 2/6 - 2
16-67063654-C-G c.103C>G p.R35G Missense 2/6 - 1
16-67063656-G-A c.105G>A p.R35= Synonymous 2/6 - 2
16-67063656-G-C c.105G>C p.R35= Synonymous 2/6 - 2
16-67063656-G-T c.105G>T p.R35= Synonymous 2/6 - 2
16-67063655-G-C c.104G>C p.R35P Missense 2/6 - 9
16-67063657-C-T c.106C>T p.P36S Missense 2/6 - 1
16-67063658-CCCA-C c.109_111del p.H37del InFrameDeletion 2/6 - 2
16-67063663-G-A c.112G>A p.E38K Missense 2/6 - 1
16-67063663-G-C c.112G>C p.E38Q Missense 2/6 - 2
16-67063663-G-T c.112G>T p.E38* Nonsense 2/6 - 2
16-67063664-A-AT c.113_114insT p.E38Dfs*45 Frameshift 2/6 - 1
16-67063665-G-T c.114G>T p.E38D Missense 2/6 - 2
16-67063666-G-T c.115G>T p.E39* Nonsense 2/6 - 2
16-67063667-A-G c.116A>G p.E39G Missense 2/6 - 1
16-67063669-C-A c.118C>A p.R40S Missense 2/6 - 1
16-67063669-CGC-AAG c.118_120delinsAAG p.R40K Missense 2/6 - 1
16-67063669-C-T c.118C>T p.R40C Missense 2/6 - 2
16-67063670-G-A c.119G>A p.R40H Missense 2/6 - 2
16-67063672-C-T c.121C>T p.Q41* Nonsense 2/6 - 4
16-67063675-G-A c.124G>A p.A42T Missense 2/6 - 6
16-67063676-C-T c.125C>T p.A42V Missense 2/6 - 2
16-67063678-C-G c.127C>G p.R43G Missense 2/6 - 1
16-67063679-G-A c.128G>A p.R43H Missense 2/6 - 1
16-67063679-G-C c.128G>C p.R43P Missense 2/6 - 1
16-67063681-T-G c.130T>G p.F44V Missense 2/6 - 3
16-67063684-C-T c.133C>T p.Q45* Nonsense 2/6 - 6
16-67063686-G-C c.135G>C p.Q45H Missense 2/6 - 1
16-67063686-G-T c.135G>T p.Q45H Missense 2/6 - 1
16-67063689-C-A c.138C>A p.N46K Missense 2/6 - 1
16-67063690-G-A c.139G>A p.A47T Missense 2/6 - 1
16-67063691-C-G c.140C>G p.A47G Missense 2/6 - 1
16-67063693-T-C c.142T>C p.C48R Missense 2/6 - 1
16-67063695-C-G c.144C>G p.C48W Missense 2/6 - 1
16-67063694-GC-G c.145del p.R49Afs*40 Frameshift 2/6 - 4
16-67063697-G-A c.146G>A p.R49H Missense 2/6 - 1
16-67063696-CGCGACGGCCGCTCGGAAATCGTAAGTCGGCTGGCCCGGGGCGCGCGCGGGTCACTTGTT-C c.149_165+42del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/6 2/5 1
16-67063698-C-CT c.147_148insT p.D50* Nonsense 2/6 - 1
16-67063699-GAC-TAA c.148_150delinsTAA p.D50* Nonsense 2/6 - 2
16-67063700-A-G c.149A>G p.D50G Missense 2/6 - 1
16-67063702-CGG-C c.151_152del p.G51Pfs*31 Frameshift 2/6 - 2
16-67063702-G-T c.151G>T p.G51C Missense 2/6 - 1
16-67063703-G-T c.152G>T p.G51V Missense 2/6 - 1
16-67063703-G-GC c.154dup p.R52Pfs*31 Frameshift 2/6 - 2
16-67063706-G-C c.155G>C p.R52P Missense 2/6 - 1
16-67063707-GC-G c.156del p.S53Rfs*36 Frameshift 2/6 - 1
16-67063708-T-C c.157T>C p.S53P Missense 2/6 - 1
16-67063709-C-A c.158C>A p.S53* Nonsense 2/6 - 1
16-67063709-C-G c.158C>G p.S53W Missense 2/6 - 1
16-67063710-G-C c.159G>C p.S53= Synonymous 2/6 - 1
16-67063709-CG-C c.160del p.E54Kfs*35 Frameshift 2/6 - 1
16-67063711-G-T c.160G>T p.E54* Nonsense 2/6 - 3
16-67063711-GA-G c.163del p.I55Sfs*34 Frameshift 2/6 - 2
16-67063715-T-TC c.165dup p.A56Rfs*27 SpliceDonorInsertion - - 1
16-67063717-G-A c.165+1G>A - IntronicSNV - 2/5 1
16-67063717-G-C c.165+1G>C - IntronicSNV - 2/5 1
16-67063717-G-T c.165+1G>T - IntronicSNV - 2/5 4
16-67063717-G-GT c.165+2dup - IntronicInsertion - 2/5 2
16-67070510-C-G c.166-32C>G - IntronicSNV - 2/5 1
16-67070540-A-AG c.166dup p.A56Gfs*27 SpliceAcceptorInsertion 3/6 - 1
16-67070543-C-G c.167C>G p.A56G Missense 3/6 - 9
16-67070543-C-T c.167C>T p.A56V Missense 3/6 - 2
16-67070545-T-A c.169T>A p.F57I Missense 3/6 - 1
16-67070545-T-C c.169T>C p.F57L Missense 3/6 - 1
16-67070547-T-A c.171T>A p.F57L Missense 3/6 - 1
16-67070547-T-G c.171T>G p.F57L Missense 3/6 - 1
16-67070546-TTTGTGGCCACA-T c.170_180del p.F57Wfs*22 Frameshift 3/6 - 1
16-67070543-CT-C c.171del p.F57Lfs*32 Frameshift 3/6 - 1
16-67070547-T-TG c.172dup p.V58Gfs*25 Frameshift 3/6 - 3
16-67070548-G-T c.172G>T p.V58L Missense 3/6 - 1
16-67070548-GTG-ATC c.172_174delinsATC p.V58I Missense 3/6 - 1
16-67070549-T-A c.173T>A p.V58E Missense 3/6 - 1
16-67070551-G-A c.175G>A p.A59T Missense 3/6 - 1
16-67070551-G-C c.175G>C p.A59P Missense 3/6 - 1
16-67070551-GC-AT c.175_176delinsAT p.A59I Missense 3/6 - 1
16-67070551-G-T c.175G>T p.A59S Missense 3/6 - 2
16-67070552-CC-AG c.176_177delinsAG p.A59E Missense 3/6 - 1
16-67070553-C-T c.177C>T p.A59= Synonymous 3/6 - 2
16-67070555-C-T c.179C>T p.T60I Missense 3/6 - 3
16-67070557-G-A c.181G>A p.G61R Missense 3/6 - 1
16-67070557-GG-TT c.181_182delinsTT p.G61L Missense 3/6 - 1
16-67070557-G-T c.181G>T p.G61* Nonsense 3/6 - 1
16-67070558-G-A c.182G>A p.G61E Missense 3/6 - 2
16-67070558-G-C c.182G>C p.G61A Missense 3/6 - 1
16-67070560-A-G c.184A>G p.T62A Missense 3/6 - 2
16-67070563-A-T c.187A>T p.N63Y Missense 3/6 - 2
16-67070564-A-G c.188A>G p.N63S Missense 3/6 - 10
16-67070564-A-T c.188A>T p.N63I Missense 3/6 - 2
16-67070565-T-A c.189T>A p.N63K Missense 3/6 - 1
16-67070565-T-G c.189T>G p.N63K Missense 3/6 - 2
16-67070566-C-CT c.191dup p.S65Vfs*18 Frameshift 3/6 - 1
16-67070567-T-A c.191T>A p.L64Q Missense 3/6 - 3
16-67070566-C-T c.190C>T p.L64= Synonymous 3/6 - 2
16-67070568-G-A c.192G>A p.L64= Synonymous 3/6 - 2
16-67070568-G-C c.192G>C p.L64= Synonymous 3/6 - 2
16-67070568-G-T c.192G>T p.L64= Synonymous 3/6 - 2
16-67070569-T-C c.193T>C p.S65P Missense 3/6 - 1
16-67070570-C-T c.194C>T p.S65F Missense 3/6 - 1
16-67070572-C-G c.196C>G p.L66V Missense 3/6 - 2
16-67070572-C-T c.196C>T p.L66F Missense 3/6 - 4
16-67070568-GTC-G c.197_198del p.L66Pfs*16 Frameshift 3/6 - 2
16-67070573-T-G c.197T>G p.L66R Missense 3/6 - 1
16-67070575-C-T c.199C>T p.Q67* Nonsense 3/6 - 4
16-67070577-G-C c.201G>C p.Q67H Missense 3/6 - 7
16-67070577-G-T c.201G>T p.Q67H Missense 3/6 - 8
16-67070581-T-C c.205T>C p.F69L Missense 3/6 - 2
16-67070581-T-G c.205T>G p.F69V Missense 3/6 - 1
16-67070583-T-A c.207T>A p.F69L Missense 3/6 - 2
16-67070583-T-G c.207T>G p.F69L Missense 3/6 - 2
16-67070577-G-GT c.207dup p.P70Sfs*13 Frameshift 3/6 - 16
16-67070584-C-T c.208C>T p.P70S Missense 3/6 - 2
16-67070583-TC-T c.209del p.P70Rfs*19 Frameshift 3/6 - 1
16-67070585-C-T c.209C>T p.P70L Missense 3/6 - 2
16-67070586-G-A c.210G>A p.P70= Synonymous 3/6 - 2
16-67070586-G-C c.210G>C p.P70= Synonymous 3/6 - 1
16-67070586-G-T c.210G>T p.P70= Synonymous 3/6 - 1
16-67070587-G-A c.211G>A p.A71T Missense 3/6 - 1
16-67070590-CAGCTGGCA-C c.214_221del p.S72Gfs*8 Frameshift 3/6 - 2
16-67070593-T-G c.217T>G p.W73G Missense 3/6 - 1
16-67070594-G-A c.218G>A p.W73* Nonsense 3/6 - 12
16-67070595-G-A c.219G>A p.W73* Nonsense 3/6 - 14
16-67070596-C-A c.220C>A p.Q74K UnclassifiedSNV 3/6 - 6
16-67070596-C-T c.220C>T p.Q74* Nonsense 3/6 - 2
16-67070598-G-A c.222G>A p.Q74= Synonymous 3/6 - 1
16-67070599-G-T c.223G>T p.G75* Nonsense 3/6 - 1
16-67070601-A-AT c.225_226insT p.E76* Nonsense 3/6 - 1
16-67070599-GGA-G c.226_227del p.E76Tfs*6 Frameshift 3/6 - 1
16-67070602-G-A c.226G>A p.E76K Missense 3/6 - 1
16-67070603-GAA-G c.227_228del p.E76Afs*6 Frameshift 3/6 - 1
16-67070605-C-T c.229C>T p.Q77* Nonsense 3/6 - 1
16-67070606-A-G c.230A>G p.Q77R Missense 3/6 - 1
16-67070608-CG-AT c.232_233delinsAT p.R78I Missense 3/6 - 1
16-67070608-C-T c.232C>T p.R78* Nonsense 3/6 - 11
16-67070609-G-A c.233G>A p.R78Q Missense 3/6 - 2
16-67070609-G-T c.233G>T p.R78L Missense 3/6 - 1
16-67070611-CAA-C c.237_238del p.Q79Hfs*3 Frameshift 3/6 - 2
16-67070613-A-AGAGGTTGGCATCAAG c.237_238insGAGGTTGGCATCAAG p.Q79_T80insEVGIK InFrameInsertion 3/6 - 1
16-67070611-C-CA c.238dup p.T80Nfs*3 Frameshift 3/6 - 1
16-67070614-A-G c.238A>G p.T80A Missense 3/6 - 1
16-67070614-ACACCTAG-A c.240_246del p.P81Efs*6 Frameshift 3/6 - 1
16-67070617-C-A c.241C>A p.P81T Missense 3/6 - 1
16-67070617-C-T c.241C>T p.P81S Missense 3/6 - 1
16-67070618-C-CT c.243dup p.S82* Nonsense 3/6 - 1
16-67070621-G-A c.245G>A p.S82N Missense 3/6 - 1
16-67070622-C-T c.246C>T p.S82= Synonymous 3/6 - 1
16-67070623-C-T c.247C>T p.R83* Nonsense 3/6 - 6
16-67070624-G-A c.248G>A p.R83Q Missense 3/6 - 2
16-67070624-G-C c.248G>C p.R83P Missense 3/6 - 1
16-67070624-G-T c.248G>T p.R83L Missense 3/6 - 9
16-67070625-A-AT c.249_250insT p.E84* Nonsense 3/6 - 1
16-67070625-A-T c.249A>T p.R83= Synonymous 3/6 - 1
16-67070626-G-T c.250G>T p.E84* Nonsense 3/6 - 2
16-67070628-G-C c.252G>C p.E84D Missense 3/6 - 1
16-67070628-G-T c.252G>T p.E84D Missense 3/6 - 1
16-67070628-G-GT c.253dup p.Y85Lfs*31 Frameshift 3/6 - 1
16-67070629-T-TA c.254dup p.Y85* Nonsense 3/6 - 1
16-67070628-GTATGTCGACT-G c.255_264del p.Y85* UnclassifiedDeletion 3/6 - 1
16-67070631-AT-A c.255del p.Y85* Frameshift 3/6 - 1
16-67070631-T-A c.255T>A p.Y85* Nonsense 3/6 - 4
16-67070631-T-G c.255T>G p.Y85* Nonsense 3/6 - 4
16-67070634-C-A c.258C>A p.V86= Synonymous 3/6 - 5
16-67070634-C-G c.258C>G p.V86= Synonymous 3/6 - 4
16-67070634-C-T c.258C>T p.V86= Synonymous 3/6 - 4
16-67070635-G-A c.259G>A p.D87N Missense 3/6 - 6
16-67070635-GA-AT c.259_260delinsAT p.D87I Missense 3/6 - 2
16-67070635-G-C c.259G>C p.D87H Missense 3/6 - 1
16-67070636-A-G c.260A>G p.D87G Missense 3/6 - 1
16-67070637-C-CT c.263dup p.L88Ffs*28 Frameshift 3/6 - 1
16-67070640-A-C c.264A>C p.L88F Missense 3/6 - 1
16-67070640-A-T c.264A>T p.L88F Missense 3/6 - 1
16-67070641-AGAAAG-A c.265_269del p.E89Rfs*25 Frameshift 3/6 - 1
16-67070641-G-T c.265G>T p.E89* Nonsense 3/6 - 1
16-67070639-TAGAA-T c.267_270del p.R90Kfs*7 Frameshift 3/6 - 1
16-67070643-A-AT c.267_268insT p.R90* Nonsense 3/6 - 3
16-67070644-A-AT c.268_269insT p.R90Mfs*26 Frameshift 3/6 - 4
16-67070644-AG-GA c.268_269delinsGA p.R90E Missense 3/6 - 1
16-67070643-AAGAG-A c.269_272del p.R90Kfs*7 Frameshift 3/6 - 1
16-67070645-G-A c.269G>A p.R90K Missense 3/6 - 1
16-67070647-AGAAGC-A c.271_275del p.E91Rfs*23 Frameshift 3/6 - 2
16-67070652-A-C c.276A>C p.A92= Synonymous 3/6 - 1
16-67070652-A-G c.276A>G p.A92= Synonymous 3/6 - 1
16-67070652-A-T c.276A>T p.A92= Synonymous 3/6 - 1
16-67070653-G-A c.277G>A p.G93S Missense 3/6 - 1
16-67070654-G-A c.278G>A p.G93D Missense 3/6 - 1
16-67070655-C-CT c.279_280insT p.K94* Nonsense 3/6 - 1
16-67070658-G-A c.282G>A p.K94= Synonymous 3/6 - 3
16-67070657-A-AG c.282+1dup - SpliceDonorInsertion - 3/5 1
16-67070862-C-T c.282+204C>T - IntronicSNV - 3/5 1
16-67076762-T-C c.282+6104T>C - IntronicSNV - 3/5 1
16-67083609-C-A c.282+12951C>A - IntronicSNV - 3/5 1
16-67100296-C-A c.283-289C>A - IntronicSNV - 3/5 1
16-67100585-G-A c.283G>A p.V95I Missense 4/6 - 1
16-67100586-T-A c.284T>A p.V95E Missense 4/6 - 3
16-67100586-T-G c.284T>G p.V95G Missense 4/6 - 1
16-67100586-T-TA c.285dup p.Y96Ifs*20 Frameshift 4/6 - 2
16-67100587-A-G c.285A>G p.V95= Synonymous 4/6 - 2
16-67100587-ATAT-A c.287_289del p.Y96del InFrameDeletion 4/6 - 1
16-67100589-ATT-A c.289_290del p.L97Efs*18 Frameshift 4/6 - 1
16-67100589-A-AT c.290dup p.L97Ffs*19 Frameshift 4/6 - 2
16-67100592-T-A c.290T>A p.L97* Nonsense 4/6 - 1
16-67100594-A-G c.292A>G p.K98E Missense 4/6 - 1
16-67100598-C-T c.296C>T p.A99V Missense 4/6 - 11
16-67100598-GC-G c.296del p.A99Vfs*3 Frameshift 4/6 - 2
16-67100600-C-G c.298C>G p.P100A Missense 4/6 - 2
16-67100603-A-G c.301A>G p.M101V Missense 4/6 - 2
16-67100604-T-G c.302T>G p.M101R Missense 4/6 - 3
16-67100606-A-G c.304A>G p.I102V Missense 4/6 - 1
16-67100606-A-T c.304A>T p.I102F Missense 4/6 - 2
16-67100607-T-A c.305T>A p.I102N Missense 4/6 - 7
16-67100608-T-G c.306T>G p.I102M Missense 4/6 - 10
16-67100611-GA-G c.311del p.N104Mfs*35 Frameshift 4/6 - 1
16-67100613-A-G c.311A>G p.N104S Missense 4/6 - 19
16-67100615-G-A c.313G>A p.G105R Missense 4/6 - 1
16-67100616-G-A c.314G>A p.G105E Missense 4/6 - 3
16-67100616-G-T c.314G>T p.G105V Missense 4/6 - 1
16-67100619-T-G c.317T>G p.V106G Missense 4/6 - 2
16-67100621-T-G c.319T>G p.C107G Missense 4/6 - 1
16-67100622-G-A c.320G>A p.C107Y Missense 4/6 - 2
16-67100622-G-T c.320G>T p.C107F Missense 4/6 - 2
16-67100623-T-A c.321T>A p.C107* Nonsense 4/6 - 1
16-67100623-T-C c.321T>C p.C107= Synonymous 4/6 - 1
16-67100625-T-G c.323T>G p.V108G Missense 4/6 - 1
16-67100628-T-C c.326T>C p.I109T Missense 4/6 - 2
16-67100631-G-A c.329G>A p.W110* Nonsense 4/6 - 3
16-67100632-G-A c.330G>A p.W110* Nonsense 4/6 - 1
16-67100633-A-G c.331A>G p.K111E Missense 4/6 - 1
16-67100636-G-A c.334G>A p.G112S Missense 4/6 - 4
16-67100636-G-C c.334G>C p.G112R Missense 4/6 - 1
16-67100637-G-A c.335G>A p.G112D Missense 4/6 - 2
16-67100637-G-T c.335G>T p.G112V Missense 4/6 - 1
16-67100638-C-T c.336C>T p.G112= Synonymous 4/6 - 1
16-67100640-G-A c.338G>A p.W113* Nonsense 4/6 - 3
16-67100641-G-A c.339G>A p.W113* Nonsense 4/6 - 6
16-67100643-T-A c.341T>A p.I114N Missense 4/6 - 1
16-67100643-T-G c.341T>G p.I114S Missense 4/6 - 1
16-67100642-A-AT c.342dup p.D115* Nonsense 4/6 - 1
16-67100643-TTGA-T c.343_345del p.D115del InFrameDeletion 4/6 - 1
16-67100648-C-T c.346C>T p.L116F Missense 4/6 - 1
16-67100651-CCAA-C c.349_351del p.Q117del InFrameDeletion 4/6 - 1
16-67100651-C-T c.349C>T p.Q117* Nonsense 4/6 - 2
16-67100652-A-G c.350A>G p.Q117R Missense 4/6 - 1
16-67100654-A-T c.352A>T p.R118* Nonsense 4/6 - 1
16-67100655-AG-A c.353del p.R118Nfs*21 Frameshift 4/6 - 1
16-67100657-C-G c.355C>G p.L119V Missense 4/6 - 5
16-67100658-T-G c.356T>G p.L119R Missense 4/6 - 2
16-67100660-G-A c.358G>A p.D120N Missense 4/6 - 1
16-67100663-G-A c.361G>A p.G121S Missense 4/6 - 3
16-67100664-G-A c.362G>A p.G121D Missense 4/6 - 12
16-67100665-T-A c.363T>A p.G121= Synonymous 4/6 - 1
16-67100665-T-C c.363T>C p.G121= Synonymous 4/6 - 1
16-67100665-T-G c.363T>G p.G121= Synonymous 4/6 - 1
16-67100666-A-C c.364A>C p.M122L Missense 4/6 - 1
16-67100668-G-A c.366G>A p.M122I Missense 4/6 - 1
16-67100668-G-C c.366G>C p.M122I Missense 4/6 - 1
16-67100668-G-T c.366G>T p.M122I Missense 4/6 - 1
16-67100669-G-T c.367G>T p.G123C Missense 4/6 - 6
16-67100673-G-T c.371G>T p.C124F Missense 4/6 - 1
16-67100675-C-G c.373C>G p.L125V Missense 4/6 - 1
16-67100676-T-C c.374T>C p.L125P Missense 4/6 - 1
16-67100675-C-T c.373C>T p.L125= Synonymous 4/6 - 1
16-67100677-G-A c.375G>A p.L125= Synonymous 4/6 - 1
16-67100677-G-C c.375G>C p.L125= Synonymous 4/6 - 1
16-67100677-G-T c.375G>T p.L125= Synonymous 4/6 - 1
16-67100678-G-T c.376G>T p.E126* Nonsense 4/6 - 2
16-67100679-A-T c.377A>T p.E126V Missense 4/6 - 1
16-67100680-G-A c.378G>A p.E126= Synonymous 4/6 - 2
16-67100680-G-C c.378G>C p.E126D Missense 4/6 - 1
16-67100680-G-T c.378G>T p.E126D Missense 4/6 - 1
16-67100682-T-C c.380T>C p.F127S Missense 4/6 - 3
16-67100684-G-A c.382G>A p.D128N Missense 4/6 - 2
16-67100684-G-C c.382G>C p.D128H Missense 4/6 - 1
16-67100687-TG-T c.385del p.E129Rfs*10 Frameshift 4/6 - 1
16-67100690-G-A c.388G>A p.E130K Missense 4/6 - 1
16-67100690-G-T c.388G>T p.E130* Nonsense 4/6 - 3
16-67100693-C-T c.391C>T p.R131* Nonsense 4/6 - 2
16-67100694-G-A c.392G>A p.R131Q Missense 4/6 - 1
16-67100696-G-A c.394G>A p.A132T Missense 4/6 - 10
16-67100696-G-T c.394G>T p.A132S Missense 4/6 - 2
16-67100697-C-T c.395C>T p.A132V Missense 4/6 - 2
16-67100696-GC-G c.397del p.Q133Sfs*6 Frameshift 4/6 - 2
16-67100699-CCAG-C c.397_399del p.Q134del InFrameDeletion 4/6 - 1
16-67100699-C-T c.397C>T p.Q133* Nonsense 4/6 - 1
16-67100700-A-T c.398A>T p.Q133L Missense 4/6 - 1
16-67100701-G-A c.399G>A p.Q133= Synonymous 4/6 - 2
16-67100701-G-C c.399G>C p.Q133H Missense 4/6 - 4
16-67100701-G-T c.399G>T p.Q133H Missense 4/6 - 4
16-67100702-G-A c.399+1G>A - IntronicSNV - 4/5 1
16-67100703-T-C c.399+2T>C - IntronicSNV - 4/5 2
16-67100763-G-A c.399+62G>A - IntronicSNV - 4/5 1
16-67101112-GT-G c.399+414del - IntronicDeletion - 4/5 1
16-67101115-TAAAA-T c.399+428_399+431del - IntronicDeletion - 4/5 1
16-67101115-TAA-T c.399+430_399+431del - IntronicDeletion - 4/5 2
16-67101115-TA-T c.399+431del - IntronicDeletion - 4/5 2
16-67102364-A-G c.399+1663A>G - IntronicSNV - 4/5 1
16-67102420-C-T c.399+1719C>T - IntronicSNV - 4/5 1
16-67102422-G-A c.399+1721G>A - IntronicSNV - 4/5 1
16-67102425-G-T c.399+1724G>T - IntronicSNV - 4/5 1
16-67104590-CA-C c.399+3903del - IntronicDeletion - 4/5 1
16-67106869-G-T c.399+6168G>T - IntronicSNV - 4/5 1
16-67108289-CT-C c.399+7603del - IntronicDeletion - 4/5 1
16-67109100-A-AT c.400-7015dup - IntronicInsertion - 4/5 1
16-67109100-A-ATACG c.400-7015_400-7014insACGT - IntronicInsertion - 4/5 1
16-67109100-A-ATACGTG c.400-7015_400-7014insACGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATACGTGTG c.400-7015_400-7014insACGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATACGTGTGTG c.400-7015_400-7014insACGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATACGTGTGTGTG c.400-7015_400-7014insACGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATACGTGTGTGTGTG c.400-7015_400-7014insACGTGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATACGTGTGTGTGTGTG c.400-7015_400-7014insACGTGTGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATAGG c.400-7015_400-7014insAGGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATG c.400-7015_400-7014insATGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTATGTGTGTG c.400-7015_400-7014insATGTATGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTG c.400-7015_400-7014insATGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTGTG c.400-7015_400-7014insATGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTGTGTG c.400-7015_400-7014insATGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTGTGTGTG c.400-7015_400-7014insATGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTGTGTGTGTG c.400-7015_400-7014insATGTGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTGTGTGTGTGTG c.400-7015_400-7014insATGTGTGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTGTGTGTGTGTGTG c.400-7015_400-7014insATGTGTGTGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATATGTGTGTGTGTGTGTGTG c.400-7015_400-7014insATGTGTGTGTGTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATTG c.400-7015_400-7014insTGT - IntronicInsertion - 4/5 1
16-67109100-A-ATTGTGTGTG c.400-7015_400-7014insTGTGTGTGT - IntronicInsertion - 4/5 1
16-67109469-G-A c.400-6647G>A - IntronicSNV - 4/5 1
16-67114866-A-C c.400-1250A>C - IntronicSNV - 4/5 1
16-67116033-A-G c.400-83A>G - IntronicSNV - 4/5 1
16-67116045-A-C c.400-71A>C - IntronicSNV - 4/5 1
16-67116045-A-G c.400-71A>G - IntronicSNV - 4/5 1
16-67116116-C-T c.400C>T p.Q134* Nonsense 5/6 - 5
16-67116117-A-T c.401A>T p.Q134L Missense 5/6 - 1
16-67116118-G-T c.402G>T p.Q134H Missense 5/6 - 1
16-67116119-G-A c.403G>A p.E135K Missense 5/6 - 2
16-67116119-G-T c.403G>T p.E135* Nonsense 5/6 - 1
16-67116120-A-T c.404A>T p.E135V Missense 5/6 - 2
16-67116125-G-A c.409G>A p.A137T Missense 5/6 - 1
16-67116126-C-T c.410C>T p.A137V Missense 5/6 - 1
16-67116129-T-A c.413T>A p.L138* Nonsense 5/6 - 2
16-67116129-T-G c.413T>G p.L138* Nonsense 5/6 - 2
16-67116131-G-A c.415G>A p.A139T Missense 5/6 - 1
16-67116131-G-T c.415G>T p.A139S Missense 5/6 - 1
16-67116134-C-T c.418C>T p.Q140* Nonsense 5/6 - 5
16-67116138-A-AAAGGCC c.422_423insAAGGCC p.Q141_A142insRP InFrameInsertion 5/6 - 1
16-67116138-A-G c.422A>G p.Q141R Missense 5/6 - 2
16-67116141-C-T c.425C>T p.A142V Missense 5/6 - 1
16-67116146-G-T c.430G>T p.E144* Nonsense 5/6 - 1
16-67116149-G-C c.433G>C p.E145Q Missense 5/6 - 1
16-67116152-G-A c.436G>A p.A146T Missense 5/6 - 3
16-67116155-C-T c.439C>T p.R147W Missense 5/6 - 4
16-67116156-G-A c.440G>A p.R147Q Missense 5/6 - 1
16-67116156-G-T c.440G>T p.R147L Missense 5/6 - 1
16-67116155-CG-C c.441del p.R148Efs*31 Frameshift 5/6 - 1
16-67116158-AGA-CAT c.442_444delinsCAT p.R148H Missense 5/6 - 1
16-67116162-G-A c.446G>A p.R149K Missense 5/6 - 1
16-67116163-G-C c.447G>C p.R149S Missense 5/6 - 1
16-67116167-C-T c.451C>T p.R151C Missense 5/6 - 2
16-67116168-G-A c.452G>A p.R151H Missense 5/6 - 7
16-67116169-C-CT c.453_454insT p.E152* Nonsense 5/6 - 1
16-67116169-C-T c.453C>T p.R151= Synonymous 5/6 - 5
16-67116170-G-A c.454G>A p.E152K Missense 5/6 - 10
16-67116170-G-T c.454G>T p.E152* Nonsense 5/6 - 5
16-67116170-GA-G c.456del p.E152Dfs*27 Frameshift 5/6 - 1
16-67116170-G-GA c.456dup p.F153Ifs*2 Frameshift 5/6 - 1
16-67116176-G-T c.460G>T p.E154* Nonsense 5/6 - 1
16-67116177-A-T c.461A>T p.E154V Missense 5/6 - 1
16-67116179-G-A c.463G>A p.D155N Missense 5/6 - 2
16-67116180-A-AT c.465dup p.R156* Nonsense 5/6 - 2
16-67116182-AG-CA c.466_467delinsCA p.R156Q Missense 5/6 - 1
16-67116183-G-C c.467G>C p.R156T Missense 5/6 - 5
16-67116183-G-T c.467G>T p.R156I Missense 5/6 - 1
16-67116185-G-C c.469G>C p.D157H Missense 5/6 - 1
16-67116185-G-T c.469G>T p.D157Y Missense 5/6 - 1
16-67116186-A-G c.470A>G p.D157G Missense 5/6 - 1
16-67116189-G-A c.473G>A p.R158K Missense 5/6 - 1
16-67116194-C-G c.478C>G p.H160D Missense 5/6 - 4
16-67116197-C-T c.481C>T p.R161W Missense 5/6 - 4
16-67116198-G-A c.482G>A p.R161Q Missense 5/6 - 1
16-67116198-G-T c.482G>T p.R161L Missense 5/6 - 1
16-67116201-A-G c.485A>G p.E162G Missense 5/6 - 1
16-67116204-A-G c.488A>G p.E163G Missense 5/6 - 3
16-67116209-G-A c.493G>A p.E165K Missense 5/6 - 1
16-67116210-A-T c.494A>T p.E165V Missense 5/6 - 1
16-67116211-G-A c.495G>A p.E165= Synonymous 5/6 - 4
16-67116213-T-C c.495+2T>C - IntronicSNV - 5/5 2
16-67118606-G-T c.495+2395G>T - IntronicSNV - 5/5 1
16-67120453-C-T c.495+4242C>T - IntronicSNV - 5/5 1
16-67125065-G-A c.496-7548G>A - IntronicSNV - 5/5 1
16-67132613-G-A c.496G>A p.A166T Missense 6/6 - 2
16-67132615-A-AT c.498_499insT p.R167* Nonsense 6/6 - 1
16-67132616-A-G c.499A>G p.R167G Missense 6/6 - 1
16-67132617-G-C c.500G>C p.R167T Missense 6/6 - 1
16-67132620-G-A c.503G>A p.R168K Missense 6/6 - 2
16-67132622-C-A c.505C>A p.Q169K Missense 6/6 - 1
16-67132623-A-T c.506A>T p.Q169L Missense 6/6 - 1
16-67132624-A-C c.507A>C p.Q169H Missense 6/6 - 1
16-67132624-A-T c.507A>T p.Q169H Missense 6/6 - 2
16-67132620-GACA-G c.508_510del p.Q170del InFrameDeletion 6/6 - 1
16-67132626-A-AT c.509_510insT p.Q170Hfs*4 Frameshift 6/6 - 1
16-67132628-G-A c.511G>A p.D171N Missense 6/6 - 1
16-67132628-G-T c.511G>T p.D171Y Missense 6/6 - 4
16-67132629-A-G c.512A>G p.D171G Missense 6/6 - 1
16-67132629-AC-A c.515del p.P172Lfs*7 Frameshift 6/6 - 1
16-67132632-C-T c.515C>T p.P172L Missense 6/6 - 1
16-67132633-T-C c.516T>C p.P172= Synonymous 6/6 - 1
16-67132635-G-A c.518G>A p.S173N Missense 6/6 - 1
16-67132636-T-C c.519T>C p.S173= Synonymous 6/6 - 1
16-67132637-C-T c.520C>T p.P174S Missense 6/6 - 1
16-67132640-G-A c.523G>A p.G175S Missense 6/6 - 1
16-67132639-TG-T c.524del p.G175Vfs*4 Frameshift 6/6 - 1
16-67132641-G-A c.524G>A p.G175D Missense 6/6 - 2
16-67132644-CC-AA c.527_528delinsAA p.S176* Nonsense 6/6 - 1
16-67132644-C-T c.527C>T p.S176F Missense 6/6 - 1
16-67132645-C-A c.528C>A p.S176= Synonymous 6/6 - 1
16-67132653-G-A c.536G>A p.G179D Missense 6/6 - 1
16-67132655-G-A c.538G>A p.G180S Missense 6/6 - 2
16-67132659-G-A c.542G>A p.G181D Missense 6/6 - 1
16-67132662-A-AT c.546dup p.D183* Nonsense 6/6 - 1
16-67132668-T-C c.551T>C p.L184P Missense 6/6 - 1
16-67132671-A-C c.554A>C p.K185T Missense 6/6 - 2
16-67132673-ACTTC-A c.556_559del p.L186Vfs*3 Frameshift 6/6 - 1
16-67132674-T-C c.557T>C p.L186P Missense 6/6 - 1
16-67132676-C-T c.559C>T p.R187C Missense 6/6 - 1
16-67132788-C-T c.*107C>T - 3-UTRSNV 6/6 - 1
16-67133538-A-G c.*857A>G - 3-UTRSNV 6/6 - 1
16-67133740-T-C c.*1059T>C - 3-UTRSNV 6/6 - 1
16-67134102-G-A c.*1421G>A - 3-UTRSNV 6/6 - 1