RB1 RB transcriptional corepressor 1

Annotation transcript: NM_000321.3

1621 unique variant annotations were identified in 980 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
13-48877915-G-T c.-134G>T - 5-UTRSNV 1/27 - 1
13-48878047-TCATGCCGCCCAAAACCCCCCGAAAAACGGCCGCCACCGCCGCCGCTGCCGCCGCGGAAC-T c.1_59del p.M1_?20 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion,CdsStartDeletion,CdsStopDeletion 1/27 - 1
13-48878058-A-T c.10A>T p.K4* Nonsense 1/27 - 1
13-48878057-CA-C c.13del p.T5Pfs*60 Frameshift 1/27 - 1
13-48878061-A-C c.13A>C p.T5P Missense 1/27 - 1
13-48878061-A-AC c.19dup p.R7Pfs*24 Frameshift 1/27 - 5
13-48878067-C-T c.19C>T p.R7* Nonsense 1/27 - 1
13-48878068-G-C c.20G>C p.R7P Missense 1/27 - 1
13-48878070-A-T c.22A>T p.K8* Nonsense 1/27 - 1
13-48878072-A-C c.24A>C p.K8N Missense 1/27 - 2
13-48878072-A-T c.24A>T p.K8N Missense 1/27 - 1
13-48878068-GA-G c.25del p.T9Rfs*56 Frameshift 1/27 - 2
13-48878068-G-GA c.25dup p.T9Nfs*22 Frameshift 1/27 - 1
13-48878076-G-C c.28G>C p.A10P Missense 1/27 - 1
13-48878076-GC-AT c.28_29delinsAT p.A10I Missense 1/27 - 1
13-48878076-GC-CA c.28_29delinsCA p.A10H Missense 1/27 - 1
13-48878076-GC-TG c.28_29delinsTG p.A10C Missense 1/27 - 1
13-48878076-GC-TT c.28_29delinsTT p.A10F Missense 1/27 - 1
13-48878077-C-G c.29C>G p.A10G Missense 1/27 - 2
13-48878079-GC-TG c.31_32delinsTG p.A11C Missense 1/27 - 1
13-48878079-GC-TT c.31_32delinsTT p.A11F Missense 1/27 - 1
13-48878076-GCCGCCACCGCCGCCGCTGCCGCCGCGGAACCC-G c.32_63del p.A11Gfs*9 Frameshift 1/27 - 2
13-48878080-C-A c.32C>A p.A11D Missense 1/27 - 1
13-48878082-A-C c.34A>C p.T12P Missense 1/27 - 1
13-48878085-G-C c.37G>C p.A13P Missense 1/27 - 1
13-48878085-GCC-TGG c.37_39delinsTGG p.A13W Missense 1/27 - 1
13-48878086-C-G c.38C>G p.A13G Missense 1/27 - 1
13-48878086-C-T c.38C>T p.A13V Missense 1/27 - 1
13-48878088-GCC-AAG c.40_42delinsAAG p.A14K Missense 1/27 - 1
13-48878088-GC-CT c.40_41delinsCT p.A14L Missense 1/27 - 1
13-48878088-GCC-TAA c.40_42delinsTAA p.A14* Nonsense 1/27 - 1
13-48878088-GC-TG c.40_41delinsTG p.A14C Missense 1/27 - 1
13-48878089-C-A c.41C>A p.A14D Missense 1/27 - 1
13-48878090-C-A c.42C>A p.A14= Synonymous 1/27 - 1
13-48878090-C-G c.42C>G p.A14= Synonymous 1/27 - 1
13-48878090-C-T c.42C>T p.A14= Synonymous 1/27 - 1
13-48878091-G-A c.43G>A p.A15T Missense 1/27 - 1
13-48878091-GC-TT c.43_44delinsTT p.A15F Missense 1/27 - 1
13-48878091-GCT-TAA c.43_45delinsTAA p.A15* Nonsense 1/27 - 1
13-48878092-C-T c.44C>T p.A15V Missense 1/27 - 1
13-48878092-CT-AG c.44_45inv p.A15E Missense 1/27 - 1
13-48878092-GCTGCCGCC-G c.44_51del p.A15Gfs*13 Frameshift 1/27 - 1
13-48878080-CCACCGCCGCCGCTGCCGCCGCGGAACCCCCGG-C c.45_76del p.A17Pfs*3 Frameshift 1/27 - 2
13-48878084-CGCCGCCGCT-C c.45_53del p.A16_A18del InFrameDeletion 1/27 - 1
13-48878085-GCCGCCGCTGCCGCCGCGGAACCCCCGGCA-G c.45_73del p.A18Pfs*3 Frameshift 1/27 - 1
13-48878095-C-G c.47C>G p.A16G Missense 1/27 - 1
13-48878096-C-A c.48C>A p.A16= Synonymous 1/27 - 2
13-48878096-C-G c.48C>G p.A16= Synonymous 1/27 - 2
13-48878096-C-T c.48C>T p.A16= Synonymous 1/27 - 2
13-48878093-TGCCGCCGCGGAACCCCCGGCACCGCCGCC-T c.52_80del p.A18Pfs*3 Frameshift 1/27 - 1
13-48878100-G-A c.52G>A p.A18T Missense 1/27 - 1
13-48878100-G-C c.52G>C p.A18P Missense 1/27 - 1
13-48878100-GC-CA c.52_53delinsCA p.A18Q Missense 1/27 - 1
13-48878100-GC-CT c.52_53delinsCT p.A18L Missense 1/27 - 1
13-48878100-GCG-TTT c.52_54delinsTTT p.A18F Missense 1/27 - 1
13-48878100-G-T c.52G>T p.A18S Missense 1/27 - 1
13-48878099-CGCG-C c.53_55del p.A18del InFrameDeletion 1/27 - 1
13-48878101-C-G c.53C>G p.A18G Missense 1/27 - 1
13-48878093-TGCCGCCGCGGAACCCCCGGCACC-T c.54_76del p.E19Afs*4 Frameshift 1/27 - 3
13-48878101-CG-C c.55del p.E19Nfs*46 Frameshift 1/27 - 1
13-48878103-GGAA-G c.55_57del p.E19del InFrameDeletion 1/27 - 4
13-48878103-G-T c.55G>T p.E19* Nonsense 1/27 - 2
13-48878105-A-C c.57A>C p.E19D Missense 1/27 - 1
13-48878105-A-G c.57A>G p.E19= Synonymous 1/27 - 2
13-48878107-C-T c.59C>T p.P20L Missense 1/27 - 5
13-48878109-CC-TA c.61_62delinsTA p.P21* Nonsense 1/27 - 1
13-48878109-C-G c.61C>G p.P21A Missense 1/27 - 2
13-48878105-AC-A c.62del p.P21Rfs*44 Frameshift 1/27 - 2
13-48878110-C-CG c.64dup p.A22Gfs*9 Frameshift 1/27 - 1
13-48878112-G-A c.64G>A p.A22T Missense 1/27 - 1
13-48878112-G-C c.64G>C p.A22P Missense 1/27 - 1
13-48878113-C-T c.65C>T p.A22V Missense 1/27 - 1
13-48878116-CG-AT c.68_69delinsAT p.P23H Missense 1/27 - 1
13-48878116-C-T c.68C>T p.P23L Missense 1/27 - 1
13-48878117-G-A c.69G>A p.P23= Synonymous 1/27 - 1
13-48878117-G-C c.69G>C p.P23= Synonymous 1/27 - 1
13-48878117-G-T c.69G>T p.P23= Synonymous 1/27 - 1
13-48878120-G-A c.72G>A p.P24= Synonymous 1/27 - 1
13-48878120-G-C c.72G>C p.P24= Synonymous 1/27 - 1
13-48878120-G-T c.72G>T p.P24= Synonymous 1/27 - 1
13-48878114-ACCG-A c.78_80del p.P29del InFrameDeletion 1/27 - 2
13-48878126-GC-G c.83del p.P28Lfs*37 Frameshift 1/27 - 2
13-48878131-C-G c.83C>G p.P28R Missense 1/27 - 2
13-48878131-C-T c.83C>T p.P28L Missense 1/27 - 1
13-48878129-CCCT-C c.85_87del p.P29del InFrameDeletion 1/27 - 1
13-48878133-C-T c.85C>T p.P29S Missense 1/27 - 2
13-48878132-TC-T c.86del p.P29Lfs*36 Frameshift 1/27 - 1
13-48878135-T-A c.87T>A p.P29= Synonymous 1/27 - 1
13-48878135-T-C c.87T>C p.P29= Synonymous 1/27 - 1
13-48878135-T-G c.87T>G p.P29= Synonymous 1/27 - 1
13-48878136-GAG-TGT c.88_90delinsTGT p.E30C Missense 1/27 - 1
13-48878136-G-T c.88G>T p.E30* Nonsense 1/27 - 2
13-48878137-A-C c.89A>C p.E30A Missense 1/27 - 2
13-48878138-G-A c.90G>A p.E30= Synonymous 1/27 - 1
13-48878139-G-C c.91G>C p.E31Q Missense 1/27 - 1
13-48878139-G-T c.91G>T p.E31* Nonsense 1/27 - 2
13-48878138-GGA-G c.92_93del p.E31Gfs*17 Frameshift 1/27 - 1
13-48878140-AG-A c.94del p.D32Tfs*33 Frameshift 1/27 - 1
13-48878142-G-A c.94G>A p.D32N Missense 1/27 - 1
13-48878142-GA-TT c.94_95delinsTT p.D32F Missense 1/27 - 1
13-48878142-G-T c.94G>T p.D32Y Missense 1/27 - 1
13-48878143-A-C c.95A>C p.D32A Missense 1/27 - 1
13-48878144-C-A c.96C>A p.D32E Missense 1/27 - 1
13-48878144-C-G c.96C>G p.D32E Missense 1/27 - 1
13-48878150-G-T c.102G>T p.E34D Missense 1/27 - 1
13-48878151-C-T c.103C>T p.Q35* Nonsense 1/27 - 5
13-48878152-AG-A c.106del p.D36Tfs*29 Frameshift 1/27 - 1
13-48878154-G-A c.106G>A p.D36N Missense 1/27 - 1
13-48878157-AG-GC c.109_110delinsGC p.S37A Missense 1/27 - 1
13-48878158-G-C c.110G>C p.S37T Missense 1/27 - 1
13-48878160-GG-TT c.112_113delinsTT p.G38F Missense 1/27 - 1
13-48878161-G-A c.113G>A p.G38D Missense 1/27 - 2
13-48878161-G-C c.113G>C p.G38A Missense 1/27 - 1
13-48878162-C-CT c.114_115insT p.P39Sfs*10 Frameshift 1/27 - 1
13-48878161-GC-G c.116del p.P39Rfs*26 Frameshift 1/27 - 1
13-48878166-G-C c.118G>C p.E40Q Missense 1/27 - 1
13-48878172-C-T c.124C>T p.L42= Synonymous 1/27 - 1
13-48878176-C-A c.128C>A p.P43H Missense 1/27 - 1
13-48878178-C-CTT c.131_132insTT p.V45Sfs*21 Frameshift 1/27 - 1
13-48878180-CGTCAGGTGAGCGA-C c.134_137+9del - SpliceDonorDeletion 1/27 1/26 1
13-48878185-G-A c.137G>A p.R46K Missense 1/27 - 3
13-48878185-G-C c.137G>C p.R46T Missense 1/27 - 2
13-48878186-G-A c.137+1G>A - IntronicSNV - 1/26 1
13-48878186-G-C c.137+1G>C - IntronicSNV - 1/26 1
13-48878271-T-C c.137+86T>C - IntronicSNV - 1/26 2
13-48878292-G-A c.137+107G>A - IntronicSNV - 1/26 2
13-48881154-G-A c.138-262G>A - IntronicSNV - 1/26 2
13-48881154-G-C c.138-262G>C - IntronicSNV - 1/26 2
13-48881417-CTT-GAG c.139_141delinsGAG p.L47E Missense 2/27 - 1
13-48881417-CTTGAGTTTGAAGAAACAGAAGAACCTGAT-C c.142_170del p.E48Yfs*52 Frameshift 2/27 - 1
13-48881420-GA-CC c.142_143delinsCC p.E48P Missense 2/27 - 1
13-48881420-G-T c.142G>T p.E48* Nonsense 2/27 - 1
13-48881420-TGAG-T c.142_144del p.E48del InFrameDeletion 2/27 - 1
13-48881421-A-G c.143A>G p.E48G Missense 2/27 - 1
13-48881422-GT-G c.147del p.F49Lfs*16 Frameshift 2/27 - 1
13-48881426-GAA-TGT c.148_150delinsTGT p.E50C Missense 2/27 - 1
13-48881426-G-T c.148G>T p.E50* Nonsense 2/27 - 2
13-48881433-C-T c.155C>T p.T52I Missense 2/27 - 1
13-48881435-G-T c.157G>T p.E53* Nonsense 2/27 - 2
13-48881436-A-C c.158A>C p.E53A Missense 2/27 - 1
13-48881437-A-C c.159A>C p.E53D Missense 2/27 - 1
13-48881437-A-T c.159A>T p.E53D Missense 2/27 - 1
13-48881438-G-T c.160G>T p.E54* Nonsense 2/27 - 3
13-48881441-CCT-TAA c.163_165delinsTAA p.P55* Nonsense 2/27 - 1
13-48881445-A-C c.167A>C p.D56A Missense 2/27 - 1
13-48881446-T-C c.168T>C p.D56= Synonymous 2/27 - 1
13-48881448-T-A c.170T>A p.F57Y Missense 2/27 - 1
13-48881448-T-G c.170T>G p.F57C Missense 2/27 - 1
13-48881450-AC-CA c.172_173delinsCA p.T58H Missense 2/27 - 1
13-48881450-A-G c.172A>G p.T58A Missense 2/27 - 10
13-48881451-AC-A c.173del p.T58Mfs*7 Frameshift 2/27 - 1
13-48881448-TTACTGCATTATGTCAGAAATTAAAGA-T c.174_199del p.A59Rfs*42 Frameshift 2/27 - 1
13-48881453-G-A c.175G>A p.A59T Missense 2/27 - 1
13-48881453-G-C c.175G>C p.A59P Missense 2/27 - 1
13-48881453-GCA-TGT c.175_177delinsTGT p.A59C Missense 2/27 - 1
13-48881453-TG-T c.175del p.A59Hfs*6 Frameshift 2/27 - 1
13-48881454-CA-AC c.176_177delinsAC p.A59D Missense 2/27 - 1
13-48881454-C-G c.176C>G p.A59G Missense 2/27 - 1
13-48881456-TT-CC c.178_179delinsCC p.L60P Missense 2/27 - 1
13-48881455-ATTATG-A c.179_183del p.L60Sfs*48 Frameshift 2/27 - 1
13-48881457-T-A c.179T>A p.L60* Nonsense 2/27 - 1
13-48881457-T-G c.179T>G p.L60* Nonsense 2/27 - 1
13-48881459-TG-GA c.181_182delinsGA p.C61D Missense 2/27 - 1
13-48881459-TG-GC c.181_182delinsGC p.C61A Missense 2/27 - 1
13-48881462-C-T c.184C>T p.Q62* Nonsense 2/27 - 4
13-48881465-A-G c.187A>G p.K63E Missense 2/27 - 1
13-48881457-TATGTCAGAAATTAAAGATACCAGATC-T c.188_213del p.K63Rfs*38 Frameshift 2/27 - 1
13-48881464-GAA-G c.188_189del p.K63Ifs*46 Frameshift 2/27 - 1
13-48881466-A-G c.188A>G p.K63R Missense 2/27 - 2
13-48881467-A-G c.189A>G p.K63= Synonymous 2/27 - 1
13-48881469-T-G c.191T>G p.L64* Nonsense 2/27 - 1
13-48881475-T-A c.197T>A p.I66K Missense 2/27 - 1
13-48881475-TA-AC c.197_198delinsAC p.I66N Missense 2/27 - 1
13-48881477-C-G c.199C>G p.P67A Missense 2/27 - 1
13-48881476-AC-A c.200del p.P67Qfs*10 Frameshift 2/27 - 2
13-48881483-CA-AG c.205_206delinsAG p.H69S Missense 2/27 - 1
13-48881483-CA-GC c.205_206delinsGC p.H69A Missense 2/27 - 1
13-48881483-C-T c.205C>T p.H69Y Missense 2/27 - 1
13-48881484-A-C c.206A>C p.H69P Missense 2/27 - 1
13-48881488-C-CT c.210_211insT p.R71* Nonsense 2/27 - 1
13-48881489-A-AAG c.211_212insAG p.R71Kfs*7 Frameshift 2/27 - 1
13-48881489-A-G c.211A>G p.R71G Missense 2/27 - 1
13-48881491-AGAGAGAGCTTG-A c.215_225del p.E72Vfs*34 Frameshift 2/27 - 1
13-48881494-G-GT c.216_217insT p.R73* Nonsense 2/27 - 1
13-48881496-AG-A c.218del p.R73Kfs*4 Frameshift 2/27 - 1
13-48881496-G-A c.218G>A p.R73K Missense 2/27 - 1
13-48881488-CAG-C c.219_220del p.R73Sfs*36 Frameshift 2/27 - 3
13-48881495-AGAGCTTG-A c.219_225del p.R73Sfs*2 Frameshift 2/27 - 1
13-48881498-AGC-A c.220_221del p.A74Lfs*35 Frameshift 2/27 - 1
13-48881498-GC-TG c.220_221delinsTG p.A74C Missense 2/27 - 1
13-48881498-G-GAA c.220_221insAA p.A74Efs*4 Frameshift 2/27 - 1
13-48881502-G-A c.224G>A p.W75* Nonsense 2/27 - 7
13-48881503-G-A c.225G>A p.W75* Nonsense 2/27 - 2
13-48881505-T-A c.227T>A p.L76* Nonsense 2/27 - 1
13-48881505-T-G c.227T>G p.L76* Nonsense 2/27 - 1
13-48881507-AC-CA c.229_230delinsCA p.T77H Missense 2/27 - 1
13-48881510-TG-AC c.232_233delinsAC p.W78T Missense 2/27 - 1
13-48881511-G-A c.233G>A p.W78* Nonsense 2/27 - 5
13-48881512-G-A c.234G>A p.W78* Nonsense 2/27 - 3
13-48881510-TGG-T c.234_235del p.W78* Frameshift 2/27 - 1
13-48881513-G-A c.235G>A p.E79K Missense 2/27 - 1
13-48881513-G-T c.235G>T p.E79* Nonsense 2/27 - 2
13-48881514-GA-G c.236del p.E79Gfs*32 Frameshift 2/27 - 1
13-48881516-A-G c.238A>G p.K80E Missense 2/27 - 1
13-48881515-GA-G c.240del p.V81Ffs*30 Frameshift 2/27 - 1
13-48881519-G-GT c.244dup p.S82Ffs*28 Frameshift 2/27 - 1
13-48881523-C-A c.245C>A p.S82* Nonsense 2/27 - 3
13-48881523-C-G c.245C>G p.S82* Nonsense 2/27 - 3
13-48881528-G-T c.250G>T p.V84L Missense 2/27 - 1
13-48881534-G-A c.256G>A p.G86R Missense 2/27 - 2
13-48881534-G-C c.256G>C p.G86R Missense 2/27 - 1
13-48881534-G-T c.256G>T p.G86* Nonsense 2/27 - 1
13-48881540-T-C c.262T>C p.L88= Synonymous 2/27 - 1
13-48881542-G-A c.264G>A p.L88= Synonymous 2/27 - 1
13-48881541-TG-T c.264+1del - Frameshift - 2/26 1
13-48881543-G-C c.264+1G>C - IntronicSNV - 2/26 1
13-48881543-G-T c.264+1G>T - IntronicSNV - 2/26 1
13-48881544-T-A c.264+2T>A - IntronicSNV - 2/26 1
13-48881544-T-C c.264+2T>C - IntronicSNV - 2/26 1
13-48881547-G-A c.264+5G>A - IntronicSNV - 2/26 2
13-48881617-T-C c.264+75T>C - IntronicSNV - 2/26 1
13-48882363-A-G c.264+821A>G - IntronicSNV - 2/26 3
13-48891236-A-G c.264+9694A>G - IntronicSNV - 2/26 3
13-48891804-G-C c.264+10262G>C - IntronicSNV - 2/26 1
13-48894425-G-A c.264+12883G>A - IntronicSNV - 2/26 1
13-48895804-T-A c.264+14262T>A - IntronicSNV - 2/26 1
13-48895804-T-C c.264+14262T>C - IntronicSNV - 2/26 1
13-48901375-C-G c.265-15360C>G - IntronicSNV - 2/26 1
13-48916733-AGGGAG-A c.265_269del p.G89Lfs*19 SpliceAcceptorDeletion 3/27 - 1
13-48916735-G-T c.265G>T p.G89* Nonsense 3/27 - 2
13-48916733-AG-A c.266del p.G89Efs*22 Frameshift 3/27 - 1
13-48916736-GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTT-G c.268_326del p.G90Pfs*3 Unclassified 3/27 - 1
13-48916736-G-T c.266G>T p.G89V Missense 3/27 - 1
13-48916735-GGAGGTTATATTCAAAAGAAAAAGGAACTGTGGGGAATCTGTATCTTTATTGCAGCAGTT-G c.268_326del p.G90Pfs*3 Multi:SpliceAcceptorDeletion,CdsStopDeletion 3/27 - 1
13-48916738-G-A c.268G>A p.G90S Missense 3/27 - 1
13-48916739-G-C c.269G>C p.G90A Missense 3/27 - 1
13-48916738-GGTTATATTCAAAA-G c.270_282del p.Y91Kfs*16 Frameshift 3/27 - 1
13-48916744-TA-T c.274del p.I92Ffs*19 Frameshift 3/27 - 1
13-48916747-C-T c.277C>T p.Q93* Nonsense 3/27 - 3
13-48916747-TC-T c.277del p.Q93Kfs*18 Frameshift 3/27 - 1
13-48916750-A-T c.280A>T p.K94* Nonsense 3/27 - 1
13-48916752-G-GA c.287dup p.E97Gfs*13 Frameshift 3/27 - 2
13-48916757-AAG-A c.287_288del p.K96Rfs*13 Frameshift 3/27 - 1
13-48916759-GAA-TTT c.289_291delinsTTT p.E97F Missense 3/27 - 1
13-48916759-G-T c.289G>T p.E97* Nonsense 3/27 - 1
13-48916765-T-G c.295T>G p.W99G Missense 3/27 - 1
13-48916766-G-A c.296G>A p.W99* Nonsense 3/27 - 1
13-48916767-G-A c.297G>A p.W99* Nonsense 3/27 - 6
13-48916768-G-T c.298G>T p.G100* Nonsense 3/27 - 1
13-48916765-TG-T c.299del p.G100Efs*11 Frameshift 3/27 - 1
13-48916769-GA-G c.301del p.I101Sfs*10 Frameshift 3/27 - 1
13-48916769-G-GA c.301dup p.I101Nfs*9 Frameshift 3/27 - 1
13-48916772-T-C c.302T>C p.I101T Missense 3/27 - 1
13-48916773-CTG-C c.305_306del p.C102Yfs*7 Frameshift 3/27 - 1
13-48916773-CTGTATCTTTATTGCAGCAGTTGACCTAGATGAGATGTCGT-C c.305_344del p.C102Sfs*10 Frameshift 3/27 - 1
13-48916776-T-A c.306T>A p.C102* Nonsense 3/27 - 1
13-48916777-ATCTT-A c.309_312del p.F104Lfs*6 Frameshift 3/27 - 1
13-48916780-T-A c.310T>A p.F104I Missense 3/27 - 1
13-48916780-T-C c.310T>C p.F104L Missense 3/27 - 2
13-48916782-T-A c.312T>A p.F104L Missense 3/27 - 1
13-48916782-T-G c.312T>G p.F104L Missense 3/27 - 1
13-48916781-T-G c.311T>G p.F104C Missense 3/27 - 1
13-48916795-G-T c.325G>T p.D109Y Missense 3/27 - 1
13-48916796-A-T c.326A>T p.D109V Missense 3/27 - 1
13-48916799-CT-C c.329del p.L110Qfs*15 Frameshift 3/27 - 1
13-48916806-AGATGT-A c.336_340del p.E112Dfs*6 Frameshift 3/27 - 1
13-48916806-G-GA c.337dup p.M113Nfs*7 Frameshift 3/27 - 1
13-48916809-G-A c.339G>A p.M113I Missense 3/27 - 1
13-48916811-C-T c.341C>T p.S114L Missense 3/27 - 4
13-48916813-GTTCACTTTTACTGAGCTACAGAAAAACATAGAAATCAGGTAA-G c.343_380+4del - SpliceDonorDeletion 3/27 3/26 1
13-48916813-GTTCACTTTTA-G c.343_352del p.F115Lfs*7 Frameshift 3/27 - 1
13-48916816-CACTT-C c.346_349del p.T116Lfs*8 Frameshift 3/27 - 2
13-48916825-G-T c.355G>T p.E119* Nonsense 3/27 - 1
13-48916831-C-T c.361C>T p.Q121* Nonsense 3/27 - 4
13-48916832-A-G c.362A>G p.Q121R Missense 3/27 - 1
13-48916834-A-G c.364A>G p.K122E Missense 3/27 - 1
13-48916839-CAT-C c.371_372del p.I124Rfs*6 Frameshift 3/27 - 1
13-48916843-G-T c.373G>T p.E125* Nonsense 3/27 - 2
13-48916841-TAGAAATC-T c.374_380del p.E125Vfs*9 SpliceDonorDeletion 3/27 - 1
13-48916844-A-C c.374A>C p.E125A Missense 3/27 - 1
13-48916843-GA-G c.376del p.I126Sfs*10 Frameshift 3/27 - 1
13-48916846-AATCAG-A c.376_380del p.I126Cfs*3 SpliceDonorDeletion 3/27 - 1
13-48916849-AG-GC c.379_380delinsGC p.S127A Missense 3/27 - 1
13-48916849-AG-TT c.379_380delinsTT p.S127F Missense 3/27 - 1
13-48916850-G-A c.380G>A p.S127N Missense 3/27 - 2
13-48916850-G-T c.380G>T p.S127I Missense 3/27 - 1
13-48916849-AG-A c.380+1del - IntronicDeletion - 3/26 1
13-48916851-G-A c.380+1G>A - IntronicSNV - 3/26 1
13-48916851-G-T c.380+1G>T - IntronicSNV - 3/26 1
13-48916860-C-G c.380+10C>G - IntronicSNV - 3/26 1
13-48916862-T-C c.380+12T>C - IntronicSNV - 3/26 1
13-48916887-A-G c.380+37A>G - IntronicSNV - 3/26 2
13-48916895-C-G c.380+45C>G - IntronicSNV - 3/26 1
13-48916895-C-T c.380+45C>T - IntronicSNV - 3/26 5
13-48916942-A-T c.380+92A>T - IntronicSNV - 3/26 1
13-48916963-A-G c.380+113A>G - IntronicSNV - 3/26 1
13-48918174-C-G c.381-1042C>G - IntronicSNV - 3/26 1
13-48919064-A-C c.381-152A>C - IntronicSNV - 3/26 1
13-48919064-A-G c.381-152A>G - IntronicSNV - 3/26 1
13-48919218-T-C c.383T>C p.V128A Missense 4/27 - 1
13-48919223-A-T c.388A>T p.K130* Nonsense 4/27 - 1
13-48919224-A-T c.389A>T p.K130I Missense 4/27 - 1
13-48919222-TA-T c.390del p.K130Nfs*6 Frameshift 4/27 - 2
13-48919229-T-C c.394T>C p.F132L Missense 4/27 - 1
13-48919230-T-A c.395T>A p.F132Y Missense 4/27 - 1
13-48919231-T-C c.396T>C p.F132= Synonymous 4/27 - 1
13-48919232-A-C c.397A>C p.N133H Missense 4/27 - 1
13-48919235-CTTACTAAA-C c.400_407del p.L134Rfs*3 Frameshift 4/27 - 1
13-48919239-T-C c.404T>C p.L135P Missense 4/27 - 1
13-48919241-A-T c.406A>T p.K136* Nonsense 4/27 - 1
13-48919240-AAAAG-A c.409_412del p.E137Lfs*15 Frameshift 4/27 - 1
13-48919244-AG-A c.409del p.E137Kfs*16 Frameshift 4/27 - 1
13-48919244-G-T c.409G>T p.E137* Nonsense 4/27 - 11
13-48919246-A-C c.411A>C p.E137D Missense 4/27 - 1
13-48919246-A-T c.411A>T p.E137D Missense 4/27 - 3
13-48919252-T-TA c.418dup p.T140Nfs*6 Frameshift 4/27 - 1
13-48919259-A-G c.424A>G p.T142A Missense 4/27 - 1
13-48919258-TACCA-T c.425_428del p.T142Kfs*10 Frameshift 4/27 - 1
13-48919261-C-CT c.426_427insT p.K143* Nonsense 4/27 - 1
13-48919261-CA-C c.429del p.V144Lfs*9 Frameshift 4/27 - 1
13-48919265-AG-A c.430del p.V144Lfs*9 Frameshift 4/27 - 2
13-48919266-T-TA c.431_432insA p.D145* Nonsense 4/27 - 1
13-48919273-T-C c.438T>C p.N146= Synonymous 4/27 - 1
13-48919274-G-A c.439G>A p.A147T Missense 4/27 - 1
13-48919281-C-A c.446C>A p.S149* Nonsense 4/27 - 1
13-48919281-C-G c.446C>G p.S149* Nonsense 4/27 - 2
13-48919283-AGA-TGG c.448_450delinsTGG p.R150W Missense 4/27 - 3
13-48919300-T-A c.465T>A p.Y155* Nonsense 4/27 - 3
13-48919300-T-G c.465T>G p.Y155* Nonsense 4/27 - 1
13-48919301-G-C c.466G>C p.D156H Missense 4/27 - 1
13-48919302-A-C c.467A>C p.D156A Missense 4/27 - 1
13-48919302-A-G c.467A>G p.D156G Missense 4/27 - 1
13-48919305-GTATT-G c.470_473del p.V157Gfs*17 Frameshift 4/27 - 1
13-48919307-ATTGTTTGCACTCTTCAGCAAATTGGAAAGGTAAAGTAAACATTTTATTAGGTTTACACT-A c.472_500+30del - SpliceDonorDeletion 4/27 4/26 1
13-48919308-T-A c.473T>A p.L158* Nonsense 4/27 - 1
13-48919308-T-C c.473T>C p.L158S Missense 4/27 - 1
13-48919320-TC-AA c.485_486delinsAA p.F162* Nonsense 4/27 - 1
13-48919322-A-T c.487A>T p.S163C Missense 4/27 - 1
13-48919329-T-A c.494T>A p.L165* Nonsense 4/27 - 1
13-48919331-G-T c.496G>T p.E166* Nonsense 4/27 - 1
13-48919334-AG-CA c.499_500delinsCA p.R167Q Missense 4/27 - 1
13-48919335-G-A c.500G>A p.R167K Missense 4/27 - 1
13-48919358-T-G c.500+23T>G - IntronicSNV - 4/26 3
13-48919851-C-T c.500+516C>T - IntronicSNV - 4/26 1
13-48919923-T-C c.500+588T>C - IntronicSNV - 4/26 2
13-48921884-A-G c.501-77A>G - IntronicSNV - 4/26 2
13-48921962-A-G c.502A>G p.T168A Missense 5/27 - 1
13-48921965-TG-AC c.505_506delinsAC p.C169T Missense 5/27 - 1
13-48921966-G-A c.506G>A p.C169Y Missense 5/27 - 1
13-48921968-G-T c.508G>T p.E170* Nonsense 5/27 - 2
13-48921971-C-G c.511C>G p.L171V Missense 5/27 - 1
13-48921972-T-G c.512T>G p.L171R Missense 5/27 - 2
13-48921975-T-TA c.516dup p.Y173Ifs*12 Frameshift 5/27 - 1
13-48921981-T-C c.521T>C p.L174S Missense 5/27 - 1
13-48921991-C-CT c.531_532insT p.S178* Nonsense 5/27 - 1
13-48921992-A-C c.532A>C p.S178R Missense 5/27 - 1
13-48921994-C-A c.534C>A p.S178R Missense 5/27 - 1
13-48921994-C-G c.534C>G p.S178R Missense 5/27 - 1
13-48921996-G-C c.536G>C p.S179T Missense 5/27 - 1
13-48921999-C-A c.539C>A p.S180* Nonsense 5/27 - 1
13-48921999-C-T c.539C>T p.S180L Missense 5/27 - 1
13-48922000-G-A c.539+1G>A - IntronicSNV - 5/26 2
13-48922042-A-G c.539+43A>G - IntronicSNV - 5/26 1
13-48923061-G-GT c.540-23dup - IntronicInsertion - 5/26 1
13-48923093-A-G c.541A>G p.I181V Missense 6/27 - 2
13-48923094-T-TA c.543dup p.S182Ifs*3 Frameshift 6/27 - 1
13-48923100-CTGAAA-C c.550_554del p.E184Kfs*17 Frameshift 6/27 - 1
13-48923106-T-C c.554T>C p.I185T Missense 6/27 - 1
13-48923110-T-G c.558T>G p.N186K Missense 6/27 - 1
13-48923110-TTC-T c.560_561del p.S187Cfs*15 Frameshift 6/27 - 1
13-48923116-A-AT c.566dup p.L189Ffs*14 Frameshift 6/27 - 2
13-48923120-G-A c.568G>A p.V190M Missense 6/27 - 1
13-48923121-T-C c.569T>C p.V190A Missense 6/27 - 1
13-48923123-CTAAAAGT-C c.573_579del p.K192Lfs*7 Frameshift 6/27 - 1
13-48923126-A-G c.574A>G p.K192E Missense 6/27 - 1
13-48923124-TAA-T c.575_576del p.K192Sfs*10 Frameshift 6/27 - 1
13-48923129-GTTTCT-G c.579_583del p.S194Dfs*7 Frameshift 6/27 - 1
13-48923136-G-A c.584G>A p.W195* Nonsense 6/27 - 4
13-48923136-G-T c.584G>T p.W195L Missense 6/27 - 1
13-48923137-G-A c.585G>A p.W195* Nonsense 6/27 - 2
13-48923138-A-G c.586A>G p.I196V Missense 6/27 - 1
13-48923141-AC-TA c.589_590delinsTA p.T197* Nonsense 6/27 - 1
13-48923144-T-C c.592T>C p.F198L Missense 6/27 - 1
13-48923146-T-A c.594T>A p.F198L Missense 6/27 - 1
13-48923146-T-G c.594T>G p.F198L Missense 6/27 - 1
13-48923145-T-G c.593T>G p.F198C Missense 6/27 - 1
13-48923143-AT-A c.596del p.L199Yfs*2 Frameshift 6/27 - 1
13-48923148-T-A c.596T>A p.L199* Nonsense 6/27 - 3
13-48923148-T-C c.596T>C p.L199S Missense 6/27 - 1
13-48923148-T-G c.596T>G p.L199* Nonsense 6/27 - 3
13-48923152-A-AT c.600_601insT p.A201Cfs*2 Frameshift 6/27 - 1
13-48923153-G-C c.601G>C p.A201P Missense 6/27 - 1
13-48923154-C-A c.602C>A p.A201D Missense 6/27 - 1
13-48923155-T-C c.603T>C p.A201= Synonymous 6/27 - 1
13-48923156-A-T c.604A>T p.K202* Nonsense 6/27 - 1
13-48923155-T-TA c.606dup p.G203Rfs*9 SpliceDonorInsertion 6/27 - 3
13-48923158-A-AC c.606_607insC p.G203Rfs*9 SpliceDonorInsertion 6/27 - 3
13-48923158-A-AT c.606_607insT p.G203Wfs*9 SpliceDonorInsertion 6/27 - 3
13-48923158-AG-A c.607+1del - Frameshift - 6/26 1
13-48923159-G-GGGGAA c.607+1_607+2insGGAAG - SpliceDonorInsertion - 6/26 1
13-48923160-G-A c.607+1G>A - IntronicSNV - 6/26 4
13-48923160-G-C c.607+1G>C - IntronicSNV - 6/26 3
13-48923160-G-T c.607+1G>T - IntronicSNV - 6/26 10
13-48923161-T-G c.607+2T>G - IntronicSNV - 6/26 1
13-48923186-T-C c.607+27T>C - IntronicSNV - 6/26 1
13-48923187-A-G c.607+28A>G - IntronicSNV - 6/26 1
13-48923194-C-A c.607+35C>A - IntronicSNV - 6/26 1
13-48923220-C-A c.607+61C>A - IntronicSNV - 6/26 1
13-48923221-T-C c.607+62T>C - IntronicSNV - 6/26 1
13-48923808-A-G c.607+649A>G - IntronicSNV - 6/26 1
13-48931979-T-C c.608-2174T>C - IntronicSNV - 6/26 2
13-48934153-GGGGAAGT-G c.608_614del p.G203Dfs*9 SpliceAcceptorDeletion 7/27 - 1
13-48934153-G-T c.608G>T p.G203V Missense 7/27 - 1
13-48934155-G-T c.610G>T p.E204* Nonsense 7/27 - 4
13-48934157-A-ATTTTTTT c.612_613insTTTTTTT p.V205Ffs*9 Frameshift 7/27 - 1
13-48934158-G-A c.613G>A p.V205I Missense 7/27 - 1
13-48934159-TATTAC-T c.616_620del p.L206Nfs*4 Frameshift 7/27 - 1
13-48934162-T-A c.617T>A p.L206* Nonsense 7/27 - 1
13-48934162-T-G c.617T>G p.L206* Nonsense 7/27 - 1
13-48934162-T-TA c.618dup p.Q207Tfs*5 Frameshift 7/27 - 1
13-48934164-C-T c.619C>T p.Q207* Nonsense 7/27 - 4
13-48934169-G-A c.624G>A p.M208I Missense 7/27 - 1
13-48934169-G-C c.624G>C p.M208I Missense 7/27 - 1
13-48934169-G-T c.624G>T p.M208I Missense 7/27 - 1
13-48934170-G-A c.625G>A p.E209K Missense 7/27 - 1
13-48934170-G-T c.625G>T p.E209* Nonsense 7/27 - 1
13-48934173-G-A c.628G>A p.D210N Missense 7/27 - 1
13-48934173-G-T c.628G>T p.D210Y Missense 7/27 - 1
13-48934185-A-G c.640A>G p.I214V Missense 7/27 - 1
13-48934185-GA-G c.640del p.I214Ffs*5 Frameshift 7/27 - 1
13-48934189-C-T c.644C>T p.S215L Missense 7/27 - 1
13-48934194-C-T c.649C>T p.Q217* Nonsense 7/27 - 6
13-48934197-T-G c.652T>G p.L218V Missense 7/27 - 1
13-48934196-GT-G c.653del p.L218* Frameshift 7/27 - 1
13-48934198-T-G c.653T>G p.L218* Nonsense 7/27 - 1
13-48934203-C-G c.658C>G p.L220V Missense 7/27 - 4
13-48934204-T-C c.659T>C p.L220P Missense 7/27 - 1
13-48934203-C-T c.658C>T p.L220= Synonymous 7/27 - 1
13-48934203-CTA-C c.660_661del p.V222Pfs*2 Frameshift 7/27 - 1
13-48934205-A-C c.660A>C p.L220= Synonymous 7/27 - 1
13-48934205-A-G c.660A>G p.L220= Synonymous 7/27 - 1
13-48934205-A-T c.660A>T p.L220= Synonymous 7/27 - 1
13-48934203-CTATGTGTCCTTGACTATTT-C c.662_680del p.C221Lfs*37 Frameshift 7/27 - 1
13-48934208-T-G c.663T>G p.C221W Missense 7/27 - 1
13-48934210-GTC-G c.665_666del p.V222Afs*2 Frameshift 7/27 - 1
13-48934213-T-C c.668T>C p.L223P Missense 7/27 - 1
13-48934220-T-G c.675T>G p.Y225* Nonsense 7/27 - 1
13-48934222-T-A c.677T>A p.F226Y Missense 7/27 - 1
13-48934219-A-AT c.678dup p.I227Yfs*2 Frameshift 7/27 - 1
13-48934222-TTA-T c.679_680del p.I227* Frameshift 7/27 - 1
13-48934230-C-T c.685C>T p.L229F Missense 7/27 - 1
13-48934234-C-A c.689C>A p.S230* Nonsense 7/27 - 3
13-48934234-C-G c.689C>G p.S230* Nonsense 7/27 - 2
13-48934235-A-C c.690A>C p.S230= Synonymous 7/27 - 1
13-48934235-A-G c.690A>G p.S230= Synonymous 7/27 - 1
13-48934235-A-T c.690A>T p.S230= Synonymous 7/27 - 1
13-48934238-CTCCCATGTTGCTCA-C c.693_706del p.P232Rfs*4 Frameshift 7/27 - 1
13-48934242-A-G c.697A>G p.M233V Missense 7/27 - 1
13-48934245-TT-GC c.700_701delinsGC p.L234A Missense 7/27 - 1
13-48934246-T-A c.701T>A p.L234* Nonsense 7/27 - 1
13-48934248-CT-GC c.703_704delinsGC p.L235A Missense 7/27 - 1
13-48934251-A-T c.706A>T p.K236* Nonsense 7/27 - 2
13-48934254-G-T c.709G>T p.E237* Nonsense 7/27 - 2
13-48934258-CCA-C c.713_714del p.P238Lfs*2 Frameshift 7/27 - 1
13-48934261-A-AT c.717dup p.K240* SpliceDonorInsertion 7/27 - 1
13-48934263-A-AAAACAGCTGTTATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACG c.718_718+1insAAACAGCTGTTATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCACG p.I263Nfs*7 SpliceDonorInsertion - - 1
13-48934263-A-T c.718A>T p.K240* Nonsense 7/27 - 1
13-48934289-T-C c.718+26T>C - IntronicSNV - 7/26 1
13-48934575-A-G c.718+312A>G - IntronicSNV - 7/26 1
13-48934575-A-T c.718+312A>T - IntronicSNV - 7/26 1
13-48936955-CA-C c.723del p.A242Lfs*22 Frameshift 8/27 - 1
13-48936963-T-C c.731T>C p.I244T Missense 8/27 - 1
13-48936962-ATACCCATTAATGGT-A c.732_745del p.P245Tfs*21 Frameshift 8/27 - 1
13-48936965-C-G c.733C>G p.P245A Missense 8/27 - 1
13-48936968-A-AT c.738dup p.N247* Nonsense 8/27 - 1
13-48936968-ATTAATGGT-A c.738_745del p.N247Tfs*21 Frameshift 8/27 - 1
13-48936975-G-A c.743G>A p.G248D Missense 8/27 - 2
13-48936978-C-A c.746C>A p.S249* Nonsense 8/27 - 1
13-48936978-CA-GT c.746_747delinsGT p.S249C Missense 8/27 - 1
13-48936978-C-G c.746C>G p.S249* Nonsense 8/27 - 2
13-48936979-CACCTCGAACACCCA-C c.747_760del p.P250Afs*16 Frameshift 8/27 - 1
13-48936980-C-T c.748C>T p.P250S Missense 8/27 - 2
13-48936983-C-T c.751C>T p.R251* Nonsense 8/27 - 35
13-48936984-G-A c.752G>A p.R251Q Missense 8/27 - 3
13-48936986-AC-GG c.754_755delinsGG p.T252G Missense 8/27 - 1
13-48936986-A-G c.754A>G p.T252A Missense 8/27 - 1
13-48936995-C-T c.763C>T p.R255* Nonsense 8/27 - 29
13-48936996-G-A c.764G>A p.R255Q Missense 8/27 - 1
13-48936999-G-A c.767G>A p.G256D Missense 8/27 - 1
13-48937001-C-T c.769C>T p.Q257* Nonsense 8/27 - 7
13-48937000-TCAGAA-T c.772_776del p.N258Efs*11 Frameshift 8/27 - 3
13-48937007-AG-TA c.775_776delinsTA p.R259* Nonsense 8/27 - 1
13-48937016-C-T c.784C>T p.R262W Missense 8/27 - 4
13-48937017-G-A c.785G>A p.R262Q Missense 8/27 - 3
13-48937017-GG-AT c.785_786delinsAT p.R262H Missense 8/27 - 1
13-48937031-AC-A c.799del p.L267* Frameshift 8/27 - 1
13-48937032-T-A c.800T>A p.L267Q Missense 8/27 - 1
13-48937034-G-T c.802G>T p.E268* Nonsense 8/27 - 2
13-48937034-GAA-G c.805_806del p.N269* Frameshift 8/27 - 1
13-48937034-GA-G c.806del p.N269Mfs*17 Frameshift 8/27 - 1
13-48937036-AAATGATACAAGAATT-A c.806_820del p.N269_I273del InFrameDeletion 8/27 - 1
13-48937046-AGA-TGT c.814_816delinsTGT p.R272C Missense 8/27 - 1
13-48937046-A-T c.814A>T p.R272* Nonsense 8/27 - 1
13-48937047-G-A c.815G>A p.R272K Missense 8/27 - 1
13-48937052-A-T c.820A>T p.I274F Missense 8/27 - 1
13-48937055-G-T c.823G>T p.E275* Nonsense 8/27 - 1
13-48937058-G-A c.826G>A p.V276I Missense 8/27 - 1
13-48937062-T-C c.830T>C p.L277P Missense 8/27 - 1
13-48937064-T-A c.832T>A p.C278S Missense 8/27 - 1
13-48937065-G-C c.833G>C p.C278S Missense 8/27 - 1
13-48937063-CTG-C c.833_834del p.C278* Frameshift 8/27 - 1
13-48937067-AAAG-A c.838_840del p.E280del InFrameDeletion 8/27 - 1
13-48937073-CAT-TAA c.841_843delinsTAA p.H281* Nonsense 8/27 - 1
13-48937074-A-G c.842A>G p.H281R Missense 8/27 - 1
13-48937076-G-T c.844G>T p.E282* Nonsense 8/27 - 2
13-48937079-T-A c.847T>A p.C283S Missense 8/27 - 1
13-48937080-G-C c.848G>C p.C283S Missense 8/27 - 1
13-48937080-G-A c.848G>A p.C283Y Missense 8/27 - 2
13-48937081-T-A c.849T>A p.C283* Nonsense 8/27 - 1
13-48937085-A-AAC c.853_854insAC p.I285Nfs*2 Frameshift 8/27 - 1
13-48937088-G-C c.856G>C p.D286H Missense 8/27 - 1
13-48937089-A-G c.857A>G p.D286G Missense 8/27 - 1
13-48937091-G-T c.859G>T p.E287* Nonsense 8/27 - 2
13-48937093-G-A c.861G>A p.E287= Synonymous 8/27 - 3
13-48937093-G-C c.861G>C p.E287D Missense 8/27 - 4
13-48937093-G-T c.861G>T p.E287D Missense 8/27 - 3
13-48937095-T-A c.861+2T>A - IntronicSNV - 8/26 2
13-48937095-T-C c.861+2T>C - IntronicSNV - 8/26 2
13-48937109-G-T c.861+16G>T - IntronicSNV - 8/26 1
13-48939028-AG-A c.862del p.V288* Frameshift 9/27 - 1
13-48939031-GTGAAAAATGTTTATTTCAAAAATTTTATACCTTTTATGAATTCTCTTGGACTTGTAACA-G c.864_922del p.K289* Multi:SpliceAcceptorDeletion,CdsStopDeletion 9/27 - 1
13-48939034-A-C c.866A>C p.K289T Missense 9/27 - 1
13-48939032-GA-G c.869del p.N290Mfs*11 Frameshift 9/27 - 2
13-48939032-G-GA c.869dup p.N290Kfs*20 Frameshift 9/27 - 1
13-48939039-GT-G c.874del p.Y292Ifs*9 Frameshift 9/27 - 1
13-48939052-A-AT c.888dup p.I297Yfs*13 Frameshift 9/27 - 1
13-48939052-AT-A c.888del p.F296Lfs*5 Frameshift 9/27 - 2
13-48939058-T-C c.890T>C p.I297T Missense 9/27 - 1
13-48939060-ACCTTT-A c.892_896del p.P298Yfs*10 Frameshift 9/27 - 1
13-48939060-C-A c.892C>A p.P298T Missense 9/27 - 1
13-48939062-CTTTTATGAATTCT-C c.894_906del p.F299Lfs*4 Frameshift 9/27 - 1
13-48939066-A-G c.898A>G p.M300V Missense 9/27 - 1
13-48939066-ATG-TTT c.898_900delinsTTT p.M300F Missense 9/27 - 1
13-48939071-T-A c.903T>A p.N301K Missense 9/27 - 1
13-48939071-T-G c.903T>G p.N301K Missense 9/27 - 1
13-48939076-T-A c.908T>A p.L303H Missense 9/27 - 1
13-48939078-G-T c.910G>T p.G304* Nonsense 9/27 - 2
13-48939084-TGTAACATCTAA-T c.916_926del p.V306Wfs*6 Frameshift 9/27 - 1
13-48939088-C-T c.920C>T p.T307I Missense 9/27 - 9
13-48939096-G-T c.928G>T p.G310* Nonsense 9/27 - 2
13-48939097-G-A c.929G>A p.G310E Missense 9/27 - 6
13-48939097-GA-AC c.929_930delinsAC p.G310D Missense 9/27 - 1
13-48939099-CT-C c.933del p.P312Qfs*20 Frameshift 9/27 - 1
13-48939105-G-T c.937G>T p.E313* Nonsense 9/27 - 2
13-48939106-A-T c.938A>T p.E313V Missense 9/27 - 1
13-48939107-G-A c.939G>A p.E313= Synonymous 9/27 - 2
13-48939107-G-T c.939G>T p.E313D Missense 9/27 - 1
13-48941628-A-AG c.940dup p.V314Gfs*2 SpliceAcceptorInsertion 10/27 - 1
13-48941630-G-A c.940G>A p.V314I Missense 10/27 - 1
13-48941631-T-A c.941T>A p.V314D Missense 10/27 - 1
13-48941633-G-T c.943G>T p.E315* Nonsense 10/27 - 3
13-48941637-A-T c.947A>T p.N316I Missense 10/27 - 1
13-48941638-ATCTTT-A c.948_952del p.L317* Frameshift 10/27 - 1
13-48941638-T-C c.948T>C p.N316= Synonymous 10/27 - 1
13-48941639-C-G c.949C>G p.L317V Missense 10/27 - 1
13-48941639-C-T c.949C>T p.L317F Missense 10/27 - 2
13-48941640-T-C c.950T>C p.L317P Missense 10/27 - 2
13-48941637-ATCTT-A c.951_954del p.S318Nfs*13 Frameshift 10/27 - 4
13-48941644-T-C c.954T>C p.S318= Synonymous 10/27 - 1
13-48941647-A-C c.957A>C p.K319N Missense 10/27 - 1
13-48941647-A-T c.957A>T p.K319N Missense 10/27 - 1
13-48941648-C-G c.958C>G p.R320G Missense 10/27 - 2
13-48941648-C-T c.958C>T p.R320* Nonsense 10/27 - 44
13-48941649-G-A c.959G>A p.R320Q Missense 10/27 - 1
13-48941649-G-T c.959G>T p.R320L Missense 10/27 - 1
13-48941652-A-T c.962A>T p.Y321F Missense 10/27 - 1
13-48941653-C-A c.963C>A p.Y321* Nonsense 10/27 - 3
13-48941653-C-CT c.963_964insT p.E322* Nonsense 10/27 - 1
13-48941653-C-G c.963C>G p.Y321* Nonsense 10/27 - 6
13-48941654-G-T c.964G>T p.E322* Nonsense 10/27 - 2
13-48941657-G-A c.967G>A p.E323K Missense 10/27 - 1
13-48941657-G-T c.967G>T p.E323* Nonsense 10/27 - 11
13-48941659-A-C c.969A>C p.E323D Missense 10/27 - 1
13-48941665-T-A c.975T>A p.Y325* Nonsense 10/27 - 1
13-48941665-T-G c.975T>G p.Y325* Nonsense 10/27 - 1
13-48941666-C-CT c.978dup p.K327* Nonsense 10/27 - 1
13-48941669-A-G c.979A>G p.K327E Missense 10/27 - 1
13-48941669-A-T c.979A>T p.K327* Nonsense 10/27 - 1
13-48941671-A-AT c.981_982insT p.N328* Nonsense 10/27 - 1
13-48941674-T-A c.984T>A p.N328K Missense 10/27 - 1
13-48941674-T-G c.984T>G p.N328K Missense 10/27 - 1
13-48941675-A-G c.985A>G p.K329E Missense 10/27 - 1
13-48941677-A-G c.987A>G p.K329= Synonymous 10/27 - 1
13-48941680-T-A c.990T>A p.D330E Missense 10/27 - 1
13-48941680-T-G c.990T>G p.D330E Missense 10/27 - 1
13-48941681-CT-TC c.991_992delinsTC p.L331S Missense 10/27 - 1
13-48941684-G-T c.994G>T p.D332Y Missense 10/27 - 1
13-48941685-A-G c.995A>G p.D332G Missense 10/27 - 1
13-48941687-G-A c.997G>A p.A333T Missense 10/27 - 1
13-48941691-G-A c.1001G>A p.R334K Missense 10/27 - 1
13-48941692-A-C c.1002A>C p.R334S Missense 10/27 - 1
13-48941692-A-T c.1002A>T p.R334S Missense 10/27 - 1
13-48941694-T-A c.1004T>A p.L335* Nonsense 10/27 - 2
13-48941694-T-G c.1004T>G p.L335* Nonsense 10/27 - 1
13-48941695-TA-T c.1005del p.L335Ffs*14 Frameshift 10/27 - 1
13-48941699-TT-CC c.1009_1010delinsCC p.L337P Missense 10/27 - 1
13-48941695-A-AT c.1010dup p.L337Ffs*4 Frameshift 10/27 - 1
13-48941703-A-T c.1013A>T p.D338V Missense 10/27 - 1
13-48941708-G-A c.1018G>A p.D340N Missense 10/27 - 1
13-48941711-A-T c.1021A>T p.K341* Nonsense 10/27 - 1
13-48941710-TAA-T c.1023_1024del p.K341Nfs*5 Frameshift 10/27 - 1
13-48941714-ACT-A c.1027_1028del p.L343Sfs*3 Frameshift 10/27 - 2
13-48941720-C-T c.1030C>T p.Q344* Nonsense 10/27 - 2
13-48941721-A-C c.1031A>C p.Q344P Missense 10/27 - 1
13-48941724-C-T c.1034C>T p.T345I Missense 10/27 - 1
13-48941724-C-CT c.1035dup p.D346* Nonsense 10/27 - 1
13-48941724-CTGATTCTA-C c.1036_1043del p.D346Rfs*4 Frameshift 10/27 - 1
13-48941727-A-AT c.1039dup p.S347Ffs*6 Frameshift 10/27 - 1
13-48941737-C-T c.1047C>T p.D349= Synonymous 10/27 - 1
13-48941738-A-T c.1048A>T p.S350C Missense 10/27 - 1
13-48941739-G-C c.1049G>C p.S350T Missense 10/27 - 1
13-48941739-G-T c.1049G>T p.S350I Missense 10/27 - 1
13-48941740-G-A c.1049+1G>A - IntronicSNV - 10/26 1
13-48941741-T-G c.1049+2T>G - IntronicSNV - 10/26 1
13-48941846-C-A c.1049+107C>A - IntronicSNV - 10/26 1
13-48942620-G-T c.1050-43G>T - IntronicSNV - 10/26 1
13-48942663-T-C c.1050T>C p.S350= Synonymous 11/27 - 1
13-48942667-G-C c.1054G>C p.E352Q Missense 11/27 - 1
13-48942667-G-T c.1054G>T p.E352* Nonsense 11/27 - 2
13-48942670-A-G c.1057A>G p.T353A Missense 11/27 - 1
13-48942673-C-T c.1060C>T p.Q354* Nonsense 11/27 - 2
13-48942674-A-G c.1061A>G p.Q354R Missense 11/27 - 1
13-48942674-A-T c.1061A>T p.Q354L Missense 11/27 - 1
13-48942676-A-T c.1063A>T p.R355* Nonsense 11/27 - 1
13-48942673-CAG-C c.1064_1065del p.R355Nfs*6 Frameshift 11/27 - 2
13-48942679-AC-GA c.1066_1067delinsGA p.T356E Missense 11/27 - 1
13-48942679-A-G c.1066A>G p.T356A Missense 11/27 - 2
13-48942683-C-T c.1070C>T p.P357L Missense 11/27 - 1
13-48942684-A-C c.1071A>C p.P357= Synonymous 11/27 - 1
13-48942684-A-G c.1071A>G p.P357= Synonymous 11/27 - 1
13-48942684-A-T c.1071A>T p.P357= Synonymous 11/27 - 1
13-48942685-C-G c.1072C>G p.R358G Missense 11/27 - 1
13-48942685-C-T c.1072C>T p.R358* Nonsense 11/27 - 42
13-48942686-G-A c.1073G>A p.R358Q Missense 11/27 - 1
13-48942688-A-T c.1075A>T p.K359* Nonsense 11/27 - 3
13-48942698-TTGA-T c.1089_1091del p.D363del InFrameDeletion 11/27 - 1
13-48942702-T-TG c.1090dup p.E364Gfs*13 Frameshift 11/27 - 1
13-48942703-TG-T c.1090del p.E364Kfs*3 Frameshift 11/27 - 1
13-48942706-G-A c.1093G>A p.E365K Missense 11/27 - 1
13-48942710-T-G c.1097T>G p.V366G Missense 11/27 - 1
13-48942713-A-C c.1100A>C p.N367T Missense 11/27 - 7
13-48942713-A-G c.1100A>G p.N367S Missense 11/27 - 1
13-48942715-TG-T c.1102del p.V368* Frameshift 11/27 - 1
13-48942715-G-GT c.1103dup p.I369Nfs*8 Frameshift 11/27 - 1
13-48942722-C-T c.1109C>T p.P370L Missense 11/27 - 1
13-48942728-ACACT-A c.1117_1120del p.T373Qfs*6 Frameshift 11/27 - 1
13-48942730-AC-GA c.1117_1118delinsGA p.T373D Missense 11/27 - 1
13-48942730-ACT-GAG c.1117_1119delinsGAG p.T373E Missense 11/27 - 1
13-48942734-CCA-C c.1121_1122del p.P374Rfs*2 Frameshift 11/27 - 1
13-48942741-G-A c.1127+1G>A - IntronicSNV - 11/26 1
13-48942744-T-C c.1127+4T>C - IntronicSNV - 11/26 1
13-48942757-T-C c.1127+17T>C - IntronicSNV - 11/26 1
13-48942814-C-T c.1127+74C>T - IntronicSNV - 11/26 1
13-48945175-G-A c.1128-2366G>A - IntronicSNV - 11/26 4
13-48946712-G-A c.1128-829G>A - IntronicSNV - 11/26 1
13-48947469-G-A c.1128-72G>A - IntronicSNV - 11/26 2
13-48947469-G-T c.1128-72G>T - IntronicSNV - 11/26 2
13-48947524-A-G c.1128-17A>G - IntronicSNV - 11/26 1
13-48947541-GGACTGT-G c.1128_1133del p.R376_V378delinsS SpliceAcceptorDeletion 12/27 - 1
13-48947542-A-T c.1129A>T p.T377S Missense 12/27 - 1
13-48947553-C-T c.1140C>T p.N380= Synonymous 12/27 - 1
13-48947560-C-T c.1147C>T p.Q383* Nonsense 12/27 - 6
13-48947563-C-A c.1150C>A p.Q384K Missense 12/27 - 1
13-48947563-C-T c.1150C>T p.Q384* Nonsense 12/27 - 5
13-48947563-CAATT-C c.1154_1157del p.L385* Frameshift 12/27 - 1
13-48947576-T-C c.1163T>C p.I388T Missense 12/27 - 1
13-48947576-T-G c.1163T>G p.I388S Missense 12/27 - 4
13-48947577-T-G c.1164T>G p.I388M Missense 12/27 - 1
13-48947579-T-A c.1166T>A p.L389* Nonsense 12/27 - 1
13-48947580-TAAATTCAG-T c.1167_1174del p.L389Ffs*3 Frameshift 12/27 - 1
13-48947582-A-G c.1169A>G p.N390S Missense 12/27 - 2
13-48947585-C-A c.1172C>A p.S391* Nonsense 12/27 - 1
13-48947592-GT-G c.1179del p.S393Rfs*8 Frameshift 12/27 - 1
13-48947594-A-T c.1181A>T p.D394V Missense 12/27 - 1
13-48947596-C-T c.1183C>T p.Q395* Nonsense 12/27 - 4
13-48947597-A-T c.1184A>T p.Q395L Missense 12/27 - 1
13-48947603-C-A c.1190C>A p.S397* Nonsense 12/27 - 1
13-48947603-C-G c.1190C>G p.S397* Nonsense 12/27 - 1
13-48947603-C-T c.1190C>T p.S397L Missense 12/27 - 1
13-48947605-G-T c.1192G>T p.E398* Nonsense 12/27 - 1
13-48947607-A-C c.1194A>C p.E398D Missense 12/27 - 1
13-48947607-A-T c.1194A>T p.E398D Missense 12/27 - 1
13-48947611-C-A c.1198C>A p.L400M Missense 12/27 - 1
13-48947611-C-CT c.1199dup p.I401Dfs*5 Frameshift 12/27 - 1
13-48947612-T-C c.1199T>C p.L400P Missense 12/27 - 1
13-48947619-C-T c.1206C>T p.S402= Synonymous 12/27 - 1
13-48947625-TTAA-T c.1212_1214del p.N406del SpliceDonorDeletion 12/27 - 1
13-48947629-CGTAAGCCATATA-C c.1215+1_1215+12del - SpliceDonorDeletion - 12/26 1
13-48947629-G-A c.1215+1G>A - IntronicSNV - 12/26 20
13-48947629-G-T c.1215+1G>T - IntronicSNV - 12/26 4
13-48947630-T-A c.1215+2T>A - IntronicSNV - 12/26 1
13-48947663-T-A c.1215+35T>A - IntronicSNV - 12/26 1
13-48948569-A-G c.1215+941A>G - IntronicSNV - 12/26 2
13-48950053-T-C c.1216-1001T>C - IntronicSNV - 12/26 1
13-48950928-T-C c.1216-126T>C - IntronicSNV - 12/26 1
13-48950928-T-G c.1216-126T>G - IntronicSNV - 12/26 1
13-48951014-C-T c.1216-40C>T - IntronicSNV - 12/26 1
13-48951056-ACTGCACAGTGAATCCAAAAGAAAGTATACTGAAAAGAGTGAAGGATATAGGATACATCT-A c.1218_1276del p.C407* Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 13/27 - 1
13-48951061-C-T c.1223C>T p.T408I Missense 13/27 - 1
13-48951070-C-A c.1232C>A p.P411Q Missense 13/27 - 1
13-48951074-A-C c.1236A>C p.K412N Missense 13/27 - 1
13-48951074-A-T c.1236A>T p.K412N Missense 13/27 - 1
13-48951075-G-T c.1237G>T p.E413* Nonsense 13/27 - 4
13-48951076-A-T c.1238A>T p.E413V Missense 13/27 - 1
13-48951075-GAA-G c.1239_1240del p.S414Yfs*13 Frameshift 13/27 - 1
13-48951081-A-C c.1243A>C p.I415L Missense 13/27 - 1
13-48951087-A-T c.1249A>T p.K417* Nonsense 13/27 - 1
13-48951086-GAA-G c.1251_1252del p.R418Sfs*9 Frameshift 13/27 - 2
13-48951090-A-T c.1252A>T p.R418* Nonsense 13/27 - 1
13-48951093-G-A c.1255G>A p.V419M Missense 13/27 - 1
13-48951096-A-T c.1258A>T p.K420* Nonsense 13/27 - 1
13-48951099-G-A c.1261G>A p.D421N Missense 13/27 - 1
13-48951102-A-ACTAT c.1264_1265insCTAT p.I422Tfs*7 Frameshift 13/27 - 1
13-48951105-G-T c.1267G>T p.G423* Nonsense 13/27 - 1
13-48951106-G-T c.1268G>T p.G423V Missense 13/27 - 1
13-48951110-C-A c.1272C>A p.Y424* Nonsense 13/27 - 1
13-48951110-C-G c.1272C>G p.Y424* Nonsense 13/27 - 1
13-48951111-A-G c.1273A>G p.I425V Missense 13/27 - 1
13-48951113-CT-C c.1278del p.F426Lfs*31 Frameshift 13/27 - 1
13-48951116-TA-T c.1281del p.E428Rfs*29 Frameshift 13/27 - 1
13-48951124-A-G c.1286A>G p.K429R Missense 13/27 - 1
13-48951125-AT-A c.1290del p.F430Lfs*27 Frameshift 13/27 - 2
13-48951131-CT-C c.1293del p.A433Lfs*24 Frameshift 13/27 - 1
13-48951132-A-T c.1294A>T p.K432* Nonsense 13/27 - 2
13-48951138-G-C c.1300G>C p.V434L Missense 13/27 - 1
13-48951138-G-T c.1300G>T p.V434L Missense 13/27 - 1
13-48951139-T-C c.1301T>C p.V434A Missense 13/27 - 1
13-48951140-G-T c.1302G>T p.V434= Synonymous 13/27 - 1
13-48951141-G-T c.1303G>T p.G435* Nonsense 13/27 - 4
13-48951139-TG-T c.1304del p.G435Dfs*22 Frameshift 13/27 - 1
13-48951139-T-TG c.1304dup p.Q436Tfs*27 Frameshift 13/27 - 1
13-48951144-C-A c.1306C>A p.Q436K Missense 13/27 - 1
13-48951144-C-T c.1306C>T p.Q436* Nonsense 13/27 - 5
13-48951147-G-T c.1309G>T p.G437C Missense 13/27 - 1
13-48951148-GT-G c.1312del p.C438Vfs*19 Frameshift 13/27 - 1
13-48951150-T-G c.1312T>G p.C438G Missense 13/27 - 1
13-48951156-G-A c.1318G>A p.E440K Missense 13/27 - 1
13-48951156-G-T c.1318G>T p.E440* Nonsense 13/27 - 1
13-48951160-T-C c.1322T>C p.I441T Missense 13/27 - 1
13-48951165-T-C c.1327T>C p.S443P Missense 13/27 - 1
13-48951166-C-A c.1328C>A p.S443* Nonsense 13/27 - 4
13-48951166-C-G c.1328C>G p.S443* Nonsense 13/27 - 5
13-48951168-ACAG-A c.1330_1332del p.Q444del InFrameDeletion 13/27 - 1
13-48951168-C-T c.1330C>T p.Q444* Nonsense 13/27 - 2
13-48951169-A-C c.1331A>C p.Q444P Missense 13/27 - 1
13-48951169-A-G c.1331A>G p.Q444R Missense 13/27 - 3
13-48951169-A-T c.1331A>T p.Q444L Missense 13/27 - 1
13-48951170-G-A c.1332G>A p.Q444= Synonymous 13/27 - 2
13-48951170-G-C c.1332G>C p.Q444H Missense 13/27 - 3
13-48951170-G-T c.1332G>T p.Q444H Missense 13/27 - 1
13-48951171-G-C c.1332+1G>C - IntronicSNV - 13/26 1
13-48951172-T-G c.1332+2T>G - IntronicSNV - 13/26 1
13-48951173-A-C c.1332+3A>C - IntronicSNV - 13/26 1
13-48951233-CCAGTTCGTATAAATACTCTAA-C c.1332+68_1332+88del - IntronicDeletion - 13/26 1
13-48953701-C-T c.1333-29C>T - IntronicSNV - 13/26 1
13-48953730-CG-AC c.1333_1334delinsAC p.R445T Missense 14/27 - 1
13-48953730-C-T c.1333C>T p.R445* Nonsense 14/27 - 31
13-48953731-G-A c.1334G>A p.R445Q Missense 14/27 - 1
13-48953731-G-C c.1334G>C p.R445P Missense 14/27 - 1
13-48953731-G-T c.1334G>T p.R445L Missense 14/27 - 1
13-48953733-T-C c.1336T>C p.Y446H Missense 14/27 - 1
13-48953734-A-G c.1337A>G p.Y446C Missense 14/27 - 1
13-48953735-C-A c.1338C>A p.Y446* Nonsense 14/27 - 1
13-48953735-C-G c.1338C>G p.Y446* Nonsense 14/27 - 1
13-48953736-A-C c.1339A>C p.K447Q Missense 14/27 - 1
13-48953736-A-T c.1339A>T p.K447* Nonsense 14/27 - 2
13-48953739-C-A c.1342C>A p.L448I Missense 14/27 - 1
13-48953740-T-C c.1343T>C p.L448P Missense 14/27 - 1
13-48953742-G-A c.1345G>A p.G449R Missense 14/27 - 3
13-48953742-G-T c.1345G>T p.G449* Nonsense 14/27 - 1
13-48953743-G-A c.1346G>A p.G449E Missense 14/27 - 5
13-48953743-G-T c.1346G>T p.G449V Missense 14/27 - 2
13-48953745-G-GA c.1348_1349insA p.V450Dfs*13 Frameshift 14/27 - 1
13-48953748-C-T c.1351C>T p.R451C Missense 14/27 - 4
13-48953748-TCGCTTG-T c.1351_1356del p.R451_L452del InFrameDeletion 14/27 - 1
13-48953749-G-A c.1352G>A p.R451H Missense 14/27 - 3
13-48953750-C-A c.1353C>A p.R451= Synonymous 14/27 - 1
13-48953750-C-G c.1353C>G p.R451= Synonymous 14/27 - 1
13-48953750-C-T c.1353C>T p.R451= Synonymous 14/27 - 1
13-48953754-T-A c.1357T>A p.Y453N Missense 14/27 - 1
13-48953755-A-T c.1358A>T p.Y453F Missense 14/27 - 1
13-48953756-T-A c.1359T>A p.Y453* Nonsense 14/27 - 1
13-48953757-T-C c.1360T>C p.Y454H Missense 14/27 - 1
13-48953757-T-G c.1360T>G p.Y454D Missense 14/27 - 1
13-48953758-AC-A c.1363del p.R455Efs*2 Frameshift 14/27 - 1
13-48953760-CGA-AGC c.1363_1365delinsAGC p.R455S Missense 14/27 - 1
13-48953760-C-T c.1363C>T p.R455* Nonsense 14/27 - 39
13-48953761-G-A c.1364G>A p.R455Q Missense 14/27 - 1
13-48953769-G-A c.1372G>A p.E458K Missense 14/27 - 1
13-48953769-G-T c.1372G>T p.E458* Nonsense 14/27 - 1
13-48953773-C-T c.1376C>T p.S459F Missense 14/27 - 1
13-48953778-C-CT c.1383dup p.K462* Nonsense 14/27 - 1
13-48953780-T-C c.1383T>C p.L461= Synonymous 14/27 - 1
13-48953785-C-A c.1388C>A p.S463* Nonsense 14/27 - 1
13-48953785-C-G c.1388C>G p.S463* Nonsense 14/27 - 3
13-48953785-C-CA c.1389dup p.E464Rfs*11 SpliceDonorInsertion - - 1
13-48953788-T-G c.1389+2T>G - IntronicSNV - 14/26 1
13-48953793-TA-T c.1389+12del - IntronicDeletion - 14/26 1
13-48953798-A-G c.1389+12A>G - IntronicSNV - 14/26 1
13-48953802-T-A c.1389+16T>A - IntronicSNV - 14/26 1
13-48953818-C-T c.1389+32C>T - IntronicSNV - 14/26 1
13-48953823-C-T c.1389+37C>T - IntronicSNV - 14/26 1
13-48953834-A-G c.1389+48A>G - IntronicSNV - 14/26 1
13-48953841-C-T c.1389+55C>T - IntronicSNV - 14/26 1
13-48953843-A-G c.1389+57A>G - IntronicSNV - 14/26 1
13-48953851-A-G c.1389+65A>G - IntronicSNV - 14/26 1
13-48953866-G-A c.1389+80G>A - IntronicSNV - 14/26 1
13-48953879-G-C c.1389+93G>C - IntronicSNV - 14/26 1
13-48953887-A-G c.1389+101A>G - IntronicSNV - 14/26 1
13-48953889-G-A c.1389+103G>A - IntronicSNV - 14/26 1
13-48954175-A-G c.1390-14A>G - IntronicSNV - 14/26 1
13-48954175-A-T c.1390-14A>T - IntronicSNV - 14/26 1
13-48954182-G-T c.1390-7G>T - IntronicSNV - 14/26 1
13-48954189-G-T c.1390G>T p.E464* Nonsense 15/27 - 1
13-48954192-G-T c.1393G>T p.E465* Nonsense 15/27 - 1
13-48954195-G-T c.1396G>T p.E466* Nonsense 15/27 - 2
13-48954195-GA-G c.1398del p.E466Dfs*12 Frameshift 15/27 - 2
13-48954198-C-A c.1399C>A p.R467= Synonymous 15/27 - 1
13-48954198-C-G c.1399C>G p.R467G Missense 15/27 - 1
13-48954198-CGA-AGC c.1399_1401delinsAGC p.R467S Missense 15/27 - 1
13-48954198-C-T c.1399C>T p.R467* Nonsense 15/27 - 24
13-48954199-G-A c.1400G>A p.R467Q Missense 15/27 - 1
13-48954199-G-C c.1400G>C p.R467P Missense 15/27 - 1
13-48954199-GATT-G c.1403_1405del p.L468del InFrameDeletion 15/27 - 1
13-48954200-A-AT c.1403dup p.L468Ffs*7 Frameshift 15/27 - 1
13-48954202-TTATC-T c.1403_1406del p.L468Sfs*9 Frameshift 15/27 - 1
13-48954202-T-TA c.1404dup p.S469Ifs*6 Frameshift 15/27 - 2
13-48954209-T-G c.1410T>G p.I470M Missense 15/27 - 1
13-48954210-C-T c.1411C>T p.Q471* Nonsense 15/27 - 2
13-48954214-A-T c.1415A>T p.N472I Missense 15/27 - 1
13-48954210-CAAAATTTTAGGTAAATTTTTTACTTTTAGTAA-C c.1420_1421+30del - SpliceDonorDeletion 15/27 15/26 1
13-48954214-ATTTTAGGTAAATTTTTTACTTTTAGTAAAAAAT-A c.1420_1421+31del - SpliceDonorDeletion 15/27 15/26 1
13-48954219-A-G c.1420A>G p.S474G Missense 15/27 - 1
13-48954220-G-A c.1421G>A p.S474N Missense 15/27 - 2
13-48954220-G-T c.1421G>T p.S474I Missense 15/27 - 4
13-48954221-G-A c.1421+1G>A - IntronicSNV - 15/26 1
13-48954221-G-C c.1421+1G>C - IntronicSNV - 15/26 1
13-48954222-T-A c.1421+2T>A - IntronicSNV - 15/26 1
13-48954222-T-C c.1421+2T>C - IntronicSNV - 15/26 1
13-48954223-A-T c.1421+3A>T - IntronicSNV - 15/26 1
13-48954220-GGTAAATTTTTTACTTTTA-G c.1421+6_1421+23del - IntronicDeletion - 15/26 1
13-48954224-AATTTTTTACTTTT-A c.1421+6_1421+18del - IntronicDeletion - 15/26 1
13-48954246-ATTTTTTTCTTTTTATAGAAGTAAGTATTTTATAATCTTTTTTTTTTTCCTTTAGCAAAC-A c.1421+29_1428del - Unclassified 16/27 15/26 1
13-48954301-C-G c.1422C>G p.S474R Missense 16/27 - 1
13-48954302-A-T c.1423A>T p.K475* Nonsense 16/27 - 1
13-48954308-TCTGAATGAC-T c.1429_1437del p.L477_D479del InFrameDeletion 16/27 - 1
13-48954309-T-C c.1430T>C p.L477P Missense 16/27 - 1
13-48954310-G-GA c.1433dup p.N478Kfs*2 Frameshift 16/27 - 1
13-48954312-A-AT c.1434dup p.D479* Nonsense 16/27 - 1
13-48954314-G-C c.1435G>C p.D479H Missense 16/27 - 1
13-48954315-A-C c.1436A>C p.D479A Missense 16/27 - 1
13-48954315-A-G c.1436A>G p.D479G Missense 16/27 - 1
13-48954315-A-T c.1436A>T p.D479V Missense 16/27 - 1
13-48954315-GACAACAT-G c.1436_1442del p.D479Vfs*14 Frameshift 16/27 - 1
13-48954314-GAC-G c.1437_1438del p.D479Efs*13 Frameshift 16/27 - 1
13-48954314-GACA-G c.1439_1441del p.N480del InFrameDeletion 16/27 - 4
13-48954319-C-A c.1440C>A p.N480K Missense 16/27 - 1
13-48954319-C-G c.1440C>G p.N480K Missense 16/27 - 1
13-48954321-ATTTTTCATATGTCTTTATTGGCGTGCGCT-A c.1442_1470del p.I481Tfs*2 Frameshift 16/27 - 1
13-48954320-A-AT c.1446dup p.H483Sfs*10 Frameshift 16/27 - 1
13-48954326-C-A c.1447C>A p.H483N Missense 16/27 - 1
13-48954326-C-T c.1447C>T p.H483Y Missense 16/27 - 6
13-48954327-A-G c.1448A>G p.H483R Missense 16/27 - 1
13-48954328-T-G c.1449T>G p.H483Q Missense 16/27 - 1
13-48954326-CAT-C c.1450_1451del p.M484Vfs*8 Frameshift 16/27 - 5
13-48954329-A-AAT c.1450_1451insAT p.M484Nfs*12 Frameshift 16/27 - 1
13-48954333-C-A c.1454C>A p.S485Y Missense 16/27 - 1
13-48954333-C-T c.1454C>T p.S485F Missense 16/27 - 1
13-48954333-CTT-C c.1456_1457del p.L486Ifs*6 Frameshift 16/27 - 1
13-48954336-T-A c.1457T>A p.L486* Nonsense 16/27 - 1
13-48954338-TT-GC c.1459_1460delinsGC p.L487A Missense 16/27 - 1
13-48954340-G-A c.1461G>A p.L487= Synonymous 16/27 - 1
13-48954341-G-A c.1462G>A p.A488T Missense 16/27 - 1
13-48954341-G-C c.1462G>C p.A488P Missense 16/27 - 1
13-48954342-C-T c.1463C>T p.A488V Missense 16/27 - 1
13-48954343-G-T c.1464G>T p.A488= Synonymous 16/27 - 1
13-48954345-G-A c.1466G>A p.C489Y Missense 16/27 - 1
13-48954346-C-A c.1467C>A p.C489* Nonsense 16/27 - 2
13-48954347-G-A c.1468G>A p.A490T Missense 16/27 - 2
13-48954350-TC-T c.1471del p.E492Rfs*3 Frameshift 16/27 - 1
13-48954351-T-C c.1472T>C p.L491P Missense 16/27 - 2
13-48954353-G-A c.1474G>A p.E492K Missense 16/27 - 2
13-48954353-G-T c.1474G>T p.E492* Nonsense 16/27 - 1
13-48954354-A-T c.1475A>T p.E492V Missense 16/27 - 1
13-48954359-G-T c.1480G>T p.V494L Missense 16/27 - 1
13-48954360-T-A c.1481T>A p.V494E Missense 16/27 - 1
13-48954363-T-C c.1484T>C p.M495T Missense 16/27 - 1
13-48954365-G-T c.1486G>T p.A496S Missense 16/27 - 1
13-48954368-AC-TA c.1489_1490delinsTA p.T497* Nonsense 16/27 - 1
13-48954370-A-G c.1491A>G p.T497= Synonymous 16/27 - 1
13-48954372-A-AT c.1494dup p.S499* Nonsense 16/27 - 1
13-48954373-T-A c.1494T>A p.Y498* Nonsense 16/27 - 1
13-48954373-T-C c.1494T>C p.Y498= Synonymous 16/27 - 2
13-48954373-T-G c.1494T>G p.Y498* Nonsense 16/27 - 5
13-48954372-ATAGCAG-A c.1496_1498+3del - SpliceDonorDeletion 16/27 16/26 1
13-48954378-G-C c.1498+1G>C - IntronicSNV - 16/26 1
13-48954378-G-T c.1498+1G>T - IntronicSNV - 16/26 1
13-48954379-T-G c.1498+2T>G - IntronicSNV - 16/26 1
13-48954382-AG-A c.1498+5del - IntronicDeletion - 16/26 1
13-48954383-T-G c.1498+6T>G - IntronicSNV - 16/26 1
13-48954450-G-A c.1498+73G>A - IntronicSNV - 16/26 1
13-48955201-T-A c.1499-182T>A - IntronicSNV - 16/26 1
13-48955288-T-C c.1499-95T>C - IntronicSNV - 16/26 1
13-48955319-C-T c.1499-64C>T - IntronicSNV - 16/26 1
13-48955383-G-T c.1499G>T p.R500I Missense 17/27 - 2
13-48955389-AC-A c.1505del p.T502Nfs*17 Frameshift 17/27 - 1
13-48955389-CATCTCAGAATCTTGATTCTG-T c.1505_1525delinsT p.T502Mfs*14 Frameshift 17/27 - 1
13-48955389-C-T c.1505C>T p.T502I Missense 17/27 - 1
13-48955391-T-C c.1507T>C p.S503P Missense 17/27 - 1
13-48955392-C-T c.1508C>T p.S503F Missense 17/27 - 1
13-48955392-TC-T c.1508del p.S503Ffs*16 Frameshift 17/27 - 1
13-48955394-C-T c.1510C>T p.Q504* Nonsense 17/27 - 6
13-48955400-C-T c.1516C>T p.L506F Missense 17/27 - 1
13-48955406-T-G c.1522T>G p.S508A Missense 17/27 - 1
13-48955410-G-A c.1526G>A p.G509E Missense 17/27 - 1
13-48955413-AC-A c.1529del p.T510Kfs*9 Frameshift 17/27 - 1
13-48955413-C-T c.1529C>T p.T510I Missense 17/27 - 1
13-48955413-CAG-C c.1531_1532del p.D511Ffs*11 Frameshift 17/27 - 1
13-48955418-TTG-T c.1536_1537del p.L512Ffs*10 Frameshift 17/27 - 1
13-48955421-T-G c.1537T>G p.S513A Missense 17/27 - 1
13-48955425-TC-T c.1544del p.P515Hfs*4 Frameshift 17/27 - 1
13-48955428-C-T c.1544C>T p.P515L Missense 17/27 - 4
13-48955431-G-A c.1547G>A p.W516* Nonsense 17/27 - 2
13-48955432-G-A c.1548G>A p.W516* Nonsense 17/27 - 3
13-48955433-GA-G c.1549del p.I517Ffs*2 Frameshift 17/27 - 1
13-48955434-T-G c.1550T>G p.I517S Missense 17/27 - 1
13-48955438-G-GT c.1554_1555insT p.N519* Nonsense 17/27 - 1
13-48955439-A-AG c.1555_1556insG p.N519Rfs*4 Frameshift 17/27 - 1
13-48955442-G-T c.1558G>T p.V520L Missense 17/27 - 1
13-48955443-T-C c.1559T>C p.V520A Missense 17/27 - 1
13-48955443-TGCTTAATTTAAAA-T c.1562_1574del p.L521Pfs*7 Frameshift 17/27 - 1
13-48955448-A-T c.1564A>T p.N522Y Missense 17/27 - 1
13-48955452-T-A c.1568T>A p.L523* Nonsense 17/27 - 2
13-48955452-T-G c.1568T>G p.L523* Nonsense 17/27 - 1
13-48955454-A-C c.1570A>C p.K524Q Missense 17/27 - 1
13-48955455-AAAGCCTTT-A c.1571_1578del p.K524Rfs*28 Frameshift 17/27 - 1
13-48955452-TA-T c.1572del p.A525Pfs*7 Frameshift 17/27 - 1
13-48955457-G-A c.1573G>A p.A525T Missense 17/27 - 4
13-48955458-C-T c.1574C>T p.A525V Missense 17/27 - 1
13-48955457-GC-G c.1575del p.F526Lfs*6 Frameshift 17/27 - 1
13-48955460-T-C c.1576T>C p.F526L Missense 17/27 - 1
13-48955459-C-CT c.1578dup p.D527* Nonsense 17/27 - 1
13-48955464-A-C c.1580A>C p.D527A Missense 17/27 - 1
13-48955461-TTGATTTTTACAAAG-T c.1582_1595del p.F528Rfs*22 Frameshift 17/27 - 1
13-48955472-AA-GC c.1588_1589delinsGC p.K530A Missense 17/27 - 1
13-48955471-CAA-C c.1589_1590del p.K530Sfs*24 Frameshift 17/27 - 1
13-48955478-A-T c.1594A>T p.I532F Missense 17/27 - 1
13-48955479-T-A c.1595T>A p.I532N Missense 17/27 - 1
13-48955480-C-A c.1596C>A p.I532= Synonymous 17/27 - 1
13-48955480-C-G c.1596C>G p.I532M Missense 17/27 - 1
13-48955481-G-T c.1597G>T p.E533* Nonsense 17/27 - 3
13-48955484-A-G c.1600A>G p.S534G Missense 17/27 - 1
13-48955484-AG-GC c.1600_1601delinsGC p.S534A Missense 17/27 - 1
13-48955485-GTT-G c.1604_1605del p.F535Yfs*19 Frameshift 17/27 - 1
13-48955493-A-G c.1609A>G p.K537E Missense 17/27 - 1
13-48955495-A-G c.1611A>G p.K537= Synonymous 17/27 - 1
13-48955496-G-C c.1612G>C p.A538P Missense 17/27 - 1
13-48955496-GCAGAAGGCAACTTGA-G c.1615_1629del p.E539_T543del InFrameDeletion 17/27 - 1
13-48955499-G-T c.1615G>T p.E539* Nonsense 17/27 - 1
13-48955501-A-G c.1617A>G p.E539= Synonymous 17/27 - 1
13-48955505-A-G c.1621A>G p.N541D Missense 17/27 - 1
13-48955506-A-G c.1622A>G p.N541S Missense 17/27 - 1
13-48955509-T-A c.1625T>A p.L542* Nonsense 17/27 - 2
13-48955509-T-C c.1625T>C p.L542S Missense 17/27 - 1
13-48955512-CA-C c.1630del p.R544Efs*3 Frameshift 17/27 - 2
13-48955514-A-G c.1630A>G p.R544G Missense 17/27 - 1
13-48955514-A-C c.1630A>C p.R544= Synonymous 17/27 - 1
13-48955516-A-G c.1632A>G p.R544= Synonymous 17/27 - 1
13-48955517-G-A c.1633G>A p.E545K Missense 17/27 - 6
13-48955517-G-C c.1633G>C p.E545Q Missense 17/27 - 1
13-48955517-G-T c.1633G>T p.E545* Nonsense 17/27 - 1
13-48955520-ATGATAAAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCT-A c.1639_1684del p.I547Hfs*49 Frameshift 17/27 - 1
13-48955522-GATAAAAC-G c.1641_1647del p.K548* Frameshift 17/27 - 1
13-48955526-A-T c.1642A>T p.K548* Nonsense 17/27 - 1
13-48955524-TA-T c.1644del p.K548Nfs*3 Frameshift 17/27 - 2
13-48955524-T-TA c.1644dup p.H549Tfs*6 Frameshift 17/27 - 2
13-48955530-A-G c.1646A>G p.H549R Missense 17/27 - 1
13-48955530-A-T c.1646A>T p.H549L Missense 17/27 - 1
13-48955526-AAACATTTAGAACGATGTG-A c.1648_1665del p.L550_H555del InFrameDeletion 17/27 - 1
13-48955533-T-A c.1649T>A p.L550* Nonsense 17/27 - 1
13-48955533-T-C c.1649T>C p.L550S Missense 17/27 - 1
13-48955534-A-C c.1650A>C p.L550F Missense 17/27 - 1
13-48955534-A-G c.1650A>G p.L550= Synonymous 17/27 - 1
13-48955535-G-T c.1651G>T p.E551* Nonsense 17/27 - 1
13-48955538-C-T c.1654C>T p.R552* Nonsense 17/27 - 34
13-48955539-CGATG-C c.1655_1658del p.R552Lfs*58 Frameshift 17/27 - 1
13-48955544-G-T c.1660G>T p.E554* Nonsense 17/27 - 1
13-48955545-GAACATCGAATCATGGAATCCCTTGCATGGCTCTCA-G c.1661_1695del p.E554Gfs*6 SpliceDonorDeletion 17/27 - 1
13-48955550-C-G c.1666C>G p.R556G Missense 17/27 - 1
13-48955550-C-T c.1666C>T p.R556* Nonsense 17/27 - 30
13-48955551-G-A c.1667G>A p.R556Q Missense 17/27 - 1
13-48955552-AATCATGGAATCCCTTGC-A c.1671_1687del p.I557Mfs*9 Frameshift 17/27 - 1
13-48955559-G-T c.1675G>T p.E559* Nonsense 17/27 - 1
13-48955564-C-T c.1680C>T p.S560= Synonymous 17/27 - 1
13-48955565-C-A c.1681C>A p.L561I Missense 17/27 - 1
13-48955568-G-A c.1684G>A p.A562T Missense 17/27 - 1
13-48955568-G-C c.1684G>C p.A562P Missense 17/27 - 2
13-48955569-C-A c.1685C>A p.A562E Missense 17/27 - 1
13-48955570-CATG-C c.1686_1688del p.W563del InFrameDeletion 17/27 - 1
13-48955571-T-A c.1687T>A p.W563R Missense 17/27 - 2
13-48955571-T-C c.1687T>C p.W563R Missense 17/27 - 1
13-48955572-G-A c.1688G>A p.W563* Nonsense 17/27 - 3
13-48955572-G-C c.1688G>C p.W563S Missense 17/27 - 1
13-48955572-G-T c.1688G>T p.W563L Missense 17/27 - 1
13-48955573-G-A c.1689G>A p.W563* Nonsense 17/27 - 3
13-48955573-G-C c.1689G>C p.W563C Missense 17/27 - 1
13-48955574-C-T c.1690C>T p.L564F Missense 17/27 - 1
13-48955577-CTCA-C c.1693_1695del p.S565del InFrameDeletion 17/27 - 1
13-48955578-C-A c.1694C>A p.S565* Nonsense 17/27 - 2
13-48955578-C-G c.1694C>G p.S565* Nonsense 17/27 - 1
13-48955580-G-A c.1695+1G>A - IntronicSNV - 17/26 1
13-48955583-A-G c.1695+4A>G - IntronicSNV - 17/26 1
13-48955584-G-T c.1695+5G>T - IntronicSNV - 17/26 1
13-48955659-C-CAA c.1695+81_1695+82insAA - IntronicInsertion - 17/26 3
13-48955676-T-A c.1695+97T>A - IntronicSNV - 17/26 1
13-48971936-G-A c.1695+16357G>A - IntronicSNV - 17/26 4
13-48971936-G-T c.1695+16357G>T - IntronicSNV - 17/26 4
13-48977638-A-C c.1695+22059A>C - IntronicSNV - 17/26 1
13-48984063-G-A c.1695+28484G>A - IntronicSNV - 17/26 1
13-48985439-G-T c.1695+29860G>T - IntronicSNV - 17/26 2
13-48985685-T-C c.1695+30106T>C - IntronicSNV - 17/26 1
13-48986751-G-A c.1695+31172G>A - IntronicSNV - 17/26 1
13-48987032-A-G c.1695+31453A>G - IntronicSNV - 17/26 4
13-48997693-G-A c.1696-29436G>A - IntronicSNV - 17/26 16
13-48997693-G-T c.1696-29436G>T - IntronicSNV - 17/26 16
13-49012265-G-A c.1696-14864G>A - IntronicSNV - 17/26 1
13-49012493-G-A c.1696-14636G>A - IntronicSNV - 17/26 2
13-49012493-G-C c.1696-14636G>C - IntronicSNV - 17/26 2
13-49016063-T-G c.1696-11066T>G - IntronicSNV - 17/26 1
13-49016510-G-T c.1696-10619G>T - IntronicSNV - 17/26 1
13-49027129-G-A c.1696G>A p.D566N Missense 18/27 - 3
13-49027129-G-T c.1696G>T p.D566Y Missense 18/27 - 1
13-49027132-T-C c.1699T>C p.S567P Missense 18/27 - 1
13-49027133-C-A c.1700C>A p.S567* Nonsense 18/27 - 3
13-49027133-C-G c.1700C>G p.S567* Nonsense 18/27 - 5
13-49027133-C-T c.1700C>T p.S567L Missense 18/27 - 5
13-49027135-C-T c.1702C>T p.P568S Missense 18/27 - 1
13-49027134-AC-A c.1703del p.P568Lfs*43 Frameshift 18/27 - 1
13-49027138-TT-CA c.1705_1706delinsCA p.L569Q Missense 18/27 - 1
13-49027136-CT-C c.1706del p.L569Yfs*42 Frameshift 18/27 - 1
13-49027139-T-A c.1706T>A p.L569* Nonsense 18/27 - 1
13-49027140-A-G c.1707A>G p.L569= Synonymous 18/27 - 1
13-49027151-T-C c.1718T>C p.I573T Missense 18/27 - 1
13-49027153-A-T c.1720A>T p.K574* Nonsense 18/27 - 1
13-49027152-T-TA c.1722dup p.Q575Tfs*10 Frameshift 18/27 - 1
13-49027156-C-T c.1723C>T p.Q575* Nonsense 18/27 - 5
13-49027156-CA-C c.1725del p.Q575Hfs*36 Frameshift 18/27 - 1
13-49027159-T-G c.1726T>G p.S576A Missense 18/27 - 1
13-49027160-C-A c.1727C>A p.S576* Nonsense 18/27 - 6
13-49027160-C-G c.1727C>G p.S576* Nonsense 18/27 - 6
13-49027160-C-T c.1727C>T p.S576L Missense 18/27 - 1
13-49027161-AAAGGACCGAGAAGGACC-A c.1731_1747del p.K577Nfs*2 Frameshift 18/27 - 1
13-49027167-CC-TT c.1734_1735delinsTT p.R579* Missense 18/27 - 1
13-49027166-AC-A c.1735del p.R579Efs*32 Frameshift 18/27 - 1
13-49027168-C-T c.1735C>T p.R579* Nonsense 18/27 - 36
13-49027161-AAAGGACCGAG-A c.1736_1745del p.R579Qfs*29 Frameshift 18/27 - 2
13-49027169-CG-C c.1736del p.R579Qfs*32 Frameshift 18/27 - 1
13-49027171-G-C c.1738G>C p.E580Q Missense 18/27 - 1
13-49027171-G-T c.1738G>T p.E580* Nonsense 18/27 - 3
13-49027173-AG-A c.1742del p.G581Dfs*30 Frameshift 18/27 - 1
13-49027177-C-T c.1744C>T p.P582S Missense 18/27 - 1
13-49027178-C-T c.1745C>T p.P582L Missense 18/27 - 1
13-49027183-G-T c.1750G>T p.D584Y Missense 18/27 - 1
13-49027186-C-T c.1753C>T p.H585Y Missense 18/27 - 1
13-49027189-CT-C c.1758del p.E587Nfs*24 Frameshift 18/27 - 1
13-49027192-G-T c.1759G>T p.E587* Nonsense 18/27 - 1
13-49027195-AT-A c.1762del p.S588Lfs*23 Frameshift 18/27 - 1
13-49027199-C-T c.1766C>T p.A589V Missense 18/27 - 1
13-49027199-CT-C c.1768del p.C590Vfs*21 Frameshift 18/27 - 1
13-49027205-C-G c.1772C>G p.P591R Missense 18/27 - 1
13-49027205-C-T c.1772C>T p.P591L Missense 18/27 - 1
13-49027207-C-T c.1774C>T p.L592F Missense 18/27 - 1
13-49027207-TCTTAATCTTCCTCTCCAGAATAATCACACTGCAGCAGATATGTAAGCAAAATA-T c.1774_1814+12del - SpliceDonorDeletion 18/27 18/26 1
13-49027208-TTAATC-T c.1777_1781del p.N593Sfs*5 Frameshift 18/27 - 1
13-49027209-TA-T c.1778del p.N593Ifs*18 Frameshift 18/27 - 1
13-49027217-C-T c.1784C>T p.P595L Missense 18/27 - 3
13-49027219-C-T c.1786C>T p.L596F Missense 18/27 - 1
13-49027220-T-G c.1787T>G p.L596R Missense 18/27 - 3
13-49027222-C-T c.1789C>T p.Q597* Nonsense 18/27 - 5
13-49027225-AAT-A c.1794_1795del p.N598Kfs*54 Frameshift 18/27 - 1
13-49027230-T-A c.1797T>A p.N599K Missense 18/27 - 1
13-49027231-C-T c.1798C>T p.H600Y Missense 18/27 - 1
13-49027240-G-A c.1807G>A p.A603T Missense 18/27 - 1
13-49027243-G-A c.1810G>A p.D604N Missense 18/27 - 1
13-49027244-A-G c.1811A>G p.D604G Missense 18/27 - 4
13-49027248-G-T c.1814+1G>T - IntronicSNV - 18/26 1
13-49027249-T-A c.1814+2T>A - IntronicSNV - 18/26 1
13-49027250-A-C c.1814+3A>C - IntronicSNV - 18/26 1
13-49027250-A-T c.1814+3A>T - IntronicSNV - 18/26 1
13-49027373-A-T c.1814+126A>T - IntronicSNV - 18/26 1
13-49027641-G-A c.1814+394G>A - IntronicSNV - 18/26 2
13-49028538-T-G c.1814+1291T>G - IntronicSNV - 18/26 1
13-49029385-T-C c.1815-955T>C - IntronicSNV - 18/26 1
13-49030342-A-G c.1817A>G p.Y606C Missense 19/27 - 1
13-49030343-T-A c.1818T>A p.Y606* Nonsense 19/27 - 3
13-49030343-T-G c.1818T>G p.Y606* Nonsense 19/27 - 3
13-49030344-C-A c.1819C>A p.L607I Missense 19/27 - 2
13-49030344-C-G c.1819C>G p.L607V Missense 19/27 - 1
13-49030345-T-C c.1820T>C p.L607P Missense 19/27 - 1
13-49030344-CTT-C c.1821_1822del p.P609Cfs*43 Frameshift 19/27 - 1
13-49030347-TCT-GAG c.1822_1824delinsGAG p.S608E Missense 19/27 - 1
13-49030348-C-G c.1823C>G p.S608C Missense 19/27 - 1
13-49030354-TA-T c.1831del p.R611Dfs*12 Frameshift 19/27 - 1
13-49030356-AGA-TGG c.1831_1833delinsTGG p.R611W Missense 19/27 - 1
13-49030356-A-T c.1831A>T p.R611* Nonsense 19/27 - 1
13-49030363-CA-C c.1841del p.K614Rfs*9 Frameshift 19/27 - 1
13-49030367-G-GT c.1842_1843insT p.K615* Nonsense 19/27 - 1
13-49030367-GAAAAA-G c.1844_1848del p.K615Rfs*36 Frameshift 19/27 - 1
13-49030370-A-AT c.1845_1846insT p.K616* Nonsense 19/27 - 1
13-49030371-A-G c.1846A>G p.K616E Missense 19/27 - 1
13-49030367-G-GA c.1848dup p.G617Rfs*36 Frameshift 19/27 - 2
13-49030378-C-A c.1853C>A p.S618* Nonsense 19/27 - 2
13-49030378-C-G c.1853C>G p.S618* Nonsense 19/27 - 1
13-49030386-C-A c.1861C>A p.R621S Missense 19/27 - 5
13-49030386-C-T c.1861C>T p.R621C Missense 19/27 - 5
13-49030387-G-A c.1862G>A p.R621H Missense 19/27 - 2
13-49030401-G-A c.1876G>A p.A626T Missense 19/27 - 1
13-49030401-GCA-TGT c.1876_1878delinsTGT p.A626C Missense 19/27 - 1
13-49030402-C-CA c.1880dup p.N627Kfs*26 Frameshift 19/27 - 1
13-49030409-A-C c.1884A>C p.A628= Synonymous 19/27 - 1
13-49030409-A-G c.1884A>G p.A628= Synonymous 19/27 - 1
13-49030409-A-T c.1884A>T p.A628= Synonymous 19/27 - 1
13-49030408-CAG-C c.1887_1888del p.E629Dfs*23 Frameshift 19/27 - 1
13-49030412-G-C c.1887G>C p.E629D Missense 19/27 - 2
13-49030412-G-T c.1887G>T p.E629D Missense 19/27 - 1
13-49030416-C-A c.1891C>A p.Q631K Missense 19/27 - 1
13-49030416-C-T c.1891C>T p.Q631* Nonsense 19/27 - 3
13-49030417-A-G c.1892A>G p.Q631R Missense 19/27 - 2
13-49030425-T-C c.1900T>C p.S634P Missense 19/27 - 1
13-49030426-C-A c.1901C>A p.S634* Nonsense 19/27 - 6
13-49030426-C-G c.1901C>G p.S634* Nonsense 19/27 - 4
13-49030429-GCCTTCCA-G c.1904_1910del p.A635Gfs*6 Frameshift 19/27 - 1
13-49030434-C-T c.1909C>T p.Q637* Nonsense 19/27 - 4
13-49030439-C-T c.1914C>T p.T638= Synonymous 19/27 - 1
13-49030440-C-T c.1915C>T p.Q639* Nonsense 19/27 - 2
13-49030456-C-A c.1931C>A p.S644Y Missense 19/27 - 1
13-49030462-C-T c.1937C>T p.S646F Missense 19/27 - 1
13-49030459-CCT-C c.1939_1940del p.L647Ffs*5 Frameshift 19/27 - 2
13-49030464-C-A c.1939C>A p.L647I Missense 19/27 - 1
13-49030468-C-A c.1943C>A p.S648* Nonsense 19/27 - 4
13-49030468-C-G c.1943C>G p.S648* Nonsense 19/27 - 2
13-49030468-C-T c.1943C>T p.S648L Missense 19/27 - 1
13-49030471-T-G c.1946T>G p.L649R Missense 19/27 - 1
13-49030472-TG-T c.1947del p.Y651Ifs*7 Frameshift 19/27 - 2
13-49030474-T-C c.1949T>C p.F650S Missense 19/27 - 2
13-49030475-TTTATAAAAAA-T c.1950_1959del p.F650Lfs*5 SpliceDonorDeletion 19/27 - 1
13-49030476-TATAAAAA-T c.1953_1959del p.Y651* SpliceDonorDeletion 19/27 - 1
13-49030477-A-AT c.1953dup p.K652* Nonsense 19/27 - 1
13-49030478-T-A c.1953T>A p.Y651* Nonsense 19/27 - 1
13-49030478-T-G c.1953T>G p.Y651* Nonsense 19/27 - 2
13-49030479-A-C c.1954A>C p.K652Q Missense 19/27 - 1
13-49030479-A-G c.1954A>G p.K652E Missense 19/27 - 5
13-49030479-A-T c.1954A>T p.K652* Nonsense 19/27 - 1
13-49030480-AA-TG c.1955_1956delinsTG p.K652M Missense 19/27 - 2
13-49030480-A-C c.1955A>C p.K652T Missense 19/27 - 1
13-49030481-A-AT c.1956_1957insT p.K653* Nonsense 19/27 - 1
13-49030481-A-C c.1956A>C p.K652N Missense 19/27 - 1
13-49030481-A-T c.1956A>T p.K652N Missense 19/27 - 1
13-49030483-AA-TG c.1958_1959delinsTG p.K653M Missense 19/27 - 1
13-49030478-T-TA c.1959dup p.V654Sfs*14 SpliceDonorInsertion 19/27 - 6
13-49030484-A-AC c.1959_1960insC p.V654Rfs*14 SpliceDonorInsertion 19/27 - 1
13-49030484-A-AT c.1959_1960insT p.V654Cfs*14 SpliceDonorInsertion 19/27 - 1
13-49030485-G-A c.1960G>A p.V654M Missense 19/27 - 8
13-49030485-G-C c.1960G>C p.V654L Missense 19/27 - 10
13-49030485-G-GTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCTTCTGTCTGAGCACCCA c.1960_1960+1insTGTATCGGCTAGCCTATCTCCGGCTAAATACACTTTGTGAACGCCTTCTGTCTGAGCACCCA p.E675Cfs*4 SpliceDonorInsertion - - 1
13-49030485-G-T c.1960G>T p.V654L Missense 19/27 - 5
13-49030486-G-A c.1960+1G>A - IntronicSNV - 19/26 3
13-49030486-G-C c.1960+1G>C - IntronicSNV - 19/26 2
13-49030490-G-A c.1960+5G>A - IntronicSNV - 19/26 1
13-49030490-G-C c.1960+5G>C - IntronicSNV - 19/26 1
13-49030490-G-T c.1960+5G>T - IntronicSNV - 19/26 1
13-49033747-G-A c.1961-77G>A - IntronicSNV - 19/26 9
13-49033812-T-C c.1961-12T>C - IntronicSNV - 19/26 1
13-49033824-GT-G c.1961del p.V654Gfs*4 Frameshift 20/27 - 1
13-49033824-GTGT-G c.1961_1963del p.V654_Y655delinsD SpliceAcceptorDeletion 20/27 - 1
13-49033824-T-A c.1961T>A p.V654E Missense 20/27 - 1
13-49033824-T-C c.1961T>C p.V654A Missense 20/27 - 2
13-49033825-TG-T c.1962del p.Y655Ifs*3 Frameshift 20/27 - 1
13-49033826-T-C c.1963T>C p.Y655H Missense 20/27 - 1
13-49033828-T-G c.1965T>G p.Y655* Nonsense 20/27 - 1
13-49033829-C-T c.1966C>T p.R656W Missense 20/27 - 10
13-49033830-G-A c.1967G>A p.R656Q Missense 20/27 - 1
13-49033835-G-C c.1972G>C p.A658P Missense 20/27 - 1
13-49033836-C-T c.1973C>T p.A658V Missense 20/27 - 1
13-49033835-GCCTATCT-G c.1975_1981del p.Y659Gfs*2 Frameshift 20/27 - 1
13-49033838-T-C c.1975T>C p.Y659H Missense 20/27 - 1
13-49033837-CTA-C c.1976_1977del p.Y659Sfs*8 Frameshift 20/27 - 1
13-49033839-A-G c.1976A>G p.Y659C Missense 20/27 - 1
13-49033840-T-A c.1977T>A p.Y659* Nonsense 20/27 - 1
13-49033840-T-G c.1977T>G p.Y659* Nonsense 20/27 - 1
13-49033842-T-C c.1979T>C p.L660P Missense 20/27 - 1
13-49033844-CG-TA c.1981_1982delinsTA p.R661* Nonsense 20/27 - 1
13-49033844-C-T c.1981C>T p.R661W Missense 20/27 - 45
13-49033845-G-A c.1982G>A p.R661Q Missense 20/27 - 4
13-49033848-T-G c.1985T>G p.L662R Missense 20/27 - 1
13-49033848-TA-T c.1988del p.N663Ifs*14 Frameshift 20/27 - 1
13-49033851-A-G c.1988A>G p.N663S Missense 20/27 - 2
13-49033855-A-G c.1992A>G p.T664= Synonymous 20/27 - 1
13-49033857-T-C c.1994T>C p.L665P Missense 20/27 - 3
13-49033857-T-G c.1994T>G p.L665R Missense 20/27 - 1
13-49033858-T-TG c.1995_1996insG p.C666Vfs*2 Frameshift 20/27 - 1
13-49033862-G-T c.1999G>T p.E667* Nonsense 20/27 - 1
13-49033864-A-G c.2001A>G p.E667= Synonymous 20/27 - 1
13-49033865-C-A c.2002C>A p.R668S Missense 20/27 - 1
13-49033865-C-T c.2002C>T p.R668C Missense 20/27 - 2
13-49033866-G-A c.2003G>A p.R668H Missense 20/27 - 2
13-49033872-T-C c.2009T>C p.L670P Missense 20/27 - 3
13-49033875-C-T c.2012C>T p.S671F Missense 20/27 - 1
13-49033876-T-C c.2013T>C p.S671= Synonymous 20/27 - 1
13-49033877-G-C c.2014G>C p.E672Q Missense 20/27 - 1
13-49033877-G-T c.2014G>T p.E672* Nonsense 20/27 - 2
13-49033878-A-G c.2015A>G p.E672G Missense 20/27 - 1
13-49033880-C-T c.2017C>T p.H673Y Missense 20/27 - 1
13-49033879-GCACCCAGAATTAGAA-G c.2019_2033del p.P674_H678del InFrameDeletion 20/27 - 1
13-49033883-C-T c.2020C>T p.P674S Missense 20/27 - 2
13-49033884-C-A c.2021C>A p.P674Q Missense 20/27 - 1
13-49033886-G-T c.2023G>T p.E675* Nonsense 20/27 - 2
13-49033891-TAGAACATATCATC-T c.2028_2040del p.L676Ffs*16 Frameshift 20/27 - 1
13-49033892-G-A c.2029G>A p.E677K Missense 20/27 - 1
13-49033892-G-T c.2029G>T p.E677* Nonsense 20/27 - 1
13-49033892-G-GA c.2031dup p.H678Tfs*14 Frameshift 20/27 - 1
13-49033895-C-A c.2032C>A p.H678N Missense 20/27 - 1
13-49033895-C-T c.2032C>T p.H678Y Missense 20/27 - 1
13-49033896-A-T c.2033A>T p.H678L Missense 20/27 - 2
13-49033896-A-AT c.2034dup p.I679Yfs*13 Frameshift 20/27 - 1
13-49033898-A-G c.2035A>G p.I679V Missense 20/27 - 1
13-49033902-T-C c.2039T>C p.I680T Missense 20/27 - 9
13-49033905-G-A c.2042G>A p.W681* Nonsense 20/27 - 5
13-49033906-G-A c.2043G>A p.W681* Nonsense 20/27 - 6
13-49033908-C-A c.2045C>A p.T682N Missense 20/27 - 1
13-49033907-AC-A c.2047del p.L683Ffs*13 Frameshift 20/27 - 1
13-49033910-C-T c.2047C>T p.L683F Missense 20/27 - 2
13-49033911-T-C c.2048T>C p.L683P Missense 20/27 - 1
13-49033910-CT-C c.2051del p.F684Sfs*12 Frameshift 20/27 - 2
13-49033916-C-T c.2053C>T p.Q685* Nonsense 20/27 - 6
13-49033917-A-C c.2054A>C p.Q685P Missense 20/27 - 1
13-49033919-C-T c.2056C>T p.H686Y Missense 20/27 - 1
13-49033920-A-G c.2057A>G p.H686R Missense 20/27 - 1
13-49033918-GCA-G c.2059_2060del p.T687Pfs*4 Frameshift 20/27 - 1
13-49033922-A-G c.2059A>G p.T687A Missense 20/27 - 1
13-49033923-C-CTCATT c.2060_2061insTCATT p.L688Hfs*10 Frameshift 20/27 - 1
13-49033926-T-C c.2063T>C p.L688P Missense 20/27 - 2
13-49033927-G-A c.2064G>A p.L688= Synonymous 20/27 - 1
13-49033927-TGCAGAATGAG-T c.2064_2073del p.Q689Mfs*4 Frameshift 20/27 - 1
13-49033928-C-T c.2065C>T p.Q689* Nonsense 20/27 - 3
13-49033930-G-C c.2067G>C p.Q689H Missense 20/27 - 1
13-49033932-A-G c.2069A>G p.N690S Missense 20/27 - 2
13-49033934-G-A c.2071G>A p.E691K Missense 20/27 - 1
13-49033935-A-C c.2072A>C p.E691A Missense 20/27 - 1
13-49033935-A-G c.2072A>G p.E691G Missense 20/27 - 1
13-49033936-AG-A c.2073del p.E691Dfs*5 Frameshift 20/27 - 1
13-49033936-G-GT c.2074dup p.Y692Lfs*2 Frameshift 20/27 - 1
13-49033937-T-C c.2074T>C p.Y692H Missense 20/27 - 1
13-49033938-A-G c.2075A>G p.Y692C Missense 20/27 - 1
13-49033939-T-G c.2076T>G p.Y692* Nonsense 20/27 - 1
13-49033940-G-A c.2077G>A p.E693K Missense 20/27 - 1
13-49033940-G-T c.2077G>T p.E693* Nonsense 20/27 - 1
13-49033942-AACTCATGAGAGACAGGCATTTGGACCAAGTAAGAAAATCAAGCACTTCACCTTCTCTCC-A c.2079_2106+31del - SpliceDonorDeletion 20/27 20/26 1
13-49033942-A-G c.2079A>G p.E693= Synonymous 20/27 - 1
13-49033943-C-G c.2080C>G p.L694V Missense 20/27 - 1
13-49033943-CTC-TAA c.2080_2082delinsTAA p.L694* Nonsense 20/27 - 1
13-49033944-T-C c.2081T>C p.L694P Missense 20/27 - 1
13-49033945-TC-T c.2082del p.M695* Frameshift 20/27 - 1
13-49033945-C-CA c.2083dup p.M695Nfs*26 Frameshift 20/27 - 3
13-49033946-A-G c.2083A>G p.M695V Missense 20/27 - 1
13-49033947-T-A c.2084T>A p.M695K Missense 20/27 - 1
13-49033948-G-A c.2085G>A p.M695I Missense 20/27 - 1
13-49033949-A-T c.2086A>T p.R696* Nonsense 20/27 - 1
13-49033950-G-C c.2087G>C p.R696T Missense 20/27 - 1
13-49033952-G-A c.2089G>A p.D697N Missense 20/27 - 2
13-49033952-G-C c.2089G>C p.D697H Missense 20/27 - 1
13-49033954-C-A c.2091C>A p.D697E Missense 20/27 - 1
13-49033954-C-G c.2091C>G p.D697E Missense 20/27 - 1
13-49033955-A-G c.2092A>G p.R698G Missense 20/27 - 1
13-49033955-A-T c.2092A>T p.R698W Missense 20/27 - 4
13-49033956-G-T c.2093G>T p.R698M Missense 20/27 - 1
13-49033964-G-C c.2101G>C p.D701H Missense 20/27 - 1
13-49033965-A-T c.2102A>T p.D701V Missense 20/27 - 1
13-49033964-GACCAAGTAAGAAA-G c.2103_2106+9del - SpliceDonorDeletion 20/27 20/26 1
13-49033967-C-A c.2104C>A p.Q702K Missense 20/27 - 3
13-49033967-C-T c.2104C>T p.Q702* Nonsense 20/27 - 2
13-49033968-A-G c.2105A>G p.Q702R Missense 20/27 - 1
13-49033970-G-A c.2106+1G>A - IntronicSNV - 20/26 2
13-49033970-G-C c.2106+1G>C - IntronicSNV - 20/26 1
13-49033971-T-C c.2106+2T>C - IntronicSNV - 20/26 2
13-49033971-T-G c.2106+2T>G - IntronicSNV - 20/26 2
13-49033974-GA-G c.2106+9del - IntronicDeletion - 20/26 1
13-49034022-ATTC-A c.2106+56_2106+58del - IntronicDeletion - 20/26 1
13-49034154-A-G c.2106+185A>G - IntronicSNV - 20/26 1
13-49035467-T-C c.2106+1498T>C - IntronicSNV - 20/26 1
13-49037867-GA-G c.2107del p.I703Lfs*2 Frameshift 21/27 - 1
13-49037867-GAT-G c.2107_2108del p.I703Yfs*17 SpliceAcceptorDeletion 21/27 - 1
13-49037870-A-G c.2110A>G p.M704V Missense 21/27 - 1
13-49037871-T-G c.2111T>G p.M704R Missense 21/27 - 1
13-49037873-ATGTG-A c.2115_2118del p.M705Ifs*9 Frameshift 21/27 - 1
13-49037877-G-A c.2117G>A p.C706Y Missense 21/27 - 5
13-49037877-G-T c.2117G>T p.C706F Missense 21/27 - 11
13-49037878-GTTCCAT-G c.2118_2123del p.C706_M708delinsW MultiAAMissense 21/27 - 1
13-49037878-T-C c.2118T>C p.C706= Synonymous 21/27 - 1
13-49037877-GT-G c.2119del p.S707Pfs*8 Frameshift 21/27 - 1
13-49037879-T-C c.2119T>C p.S707P Missense 21/27 - 1
13-49037883-T-G c.2123T>G p.M708R Missense 21/27 - 1
13-49037883-TGTATG-T c.2125_2129del p.Y709Hfs*10 Frameshift 21/27 - 1
13-49037884-G-GT c.2125dup p.Y709Lfs*12 Frameshift 21/27 - 1
13-49037885-T-G c.2125T>G p.Y709D Missense 21/27 - 1
13-49037886-A-G c.2126A>G p.Y709C Missense 21/27 - 1
13-49037887-T-A c.2127T>A p.Y709* Nonsense 21/27 - 2
13-49037887-T-G c.2127T>G p.Y709* Nonsense 21/27 - 1
13-49037891-A-C c.2131A>C p.I711L Missense 21/27 - 1
13-49037891-A-G c.2131A>G p.I711V Missense 21/27 - 1
13-49037891-A-T c.2131A>T p.I711L Missense 21/27 - 1
13-49037890-CATATGCAAAGTG-C c.2132_2143del p.I711_V714del InFrameDeletion 21/27 - 1
13-49037894-T-C c.2134T>C p.C712R Missense 21/27 - 10
13-49037903-A-T c.2143A>T p.K715* Nonsense 21/27 - 2
13-49037905-G-C c.2145G>C p.K715N Missense 21/27 - 1
13-49037907-A-ATC c.2148_2149insCT p.I717Lfs*2 Frameshift 21/27 - 1
13-49037907-ATATAGACCT-A c.2150_2158del p.I717_L719del InFrameDeletion 21/27 - 1
13-49037912-G-C c.2152G>C p.D718H Missense 21/27 - 1
13-49037915-C-A c.2155C>A p.L719I Missense 21/27 - 1
13-49037918-A-T c.2158A>T p.K720* Nonsense 21/27 - 2
13-49037919-A-G c.2159A>G p.K720R Missense 21/27 - 1
13-49037929-TCATTGTAACAGCATACA-T c.2169_2185del p.I724Gfs*21 Frameshift 21/27 - 1
13-49037931-T-G c.2171T>G p.I724S Missense 21/27 - 1
13-49037933-G-GT c.2174dup p.T726Nfs*25 Frameshift 21/27 - 2
13-49037936-A-G c.2176A>G p.T726A Missense 21/27 - 1
13-49037939-GCATACAAGGAT-G c.2181_2191del p.Y728Sfs*19 Frameshift 21/27 - 1
13-49037941-A-G c.2181A>G p.A727= Synonymous 21/27 - 1
13-49037944-C-G c.2184C>G p.Y728* Nonsense 21/27 - 2
13-49037946-A-G c.2186A>G p.K729R Missense 21/27 - 1
13-49037955-C-A c.2195C>A p.P732H Missense 21/27 - 1
13-49037958-A-AT c.2199dup p.A734Cfs*17 Frameshift 21/27 - 1
13-49037966-C-T c.2206C>T p.Q736* Nonsense 21/27 - 5
13-49037969-G-T c.2209G>T p.E737* Nonsense 21/27 - 2
13-49037971-G-A c.2211G>A p.E737= Synonymous 21/27 - 2
13-49037971-G-C c.2211G>C p.E737D Missense 21/27 - 1
13-49037971-G-T c.2211G>T p.E737D Missense 21/27 - 2
13-49037972-G-A c.2211+1G>A - IntronicSNV - 21/26 1
13-49037972-G-C c.2211+1G>C - IntronicSNV - 21/26 1
13-49037972-G-GT c.2211+2dup - IntronicInsertion - 21/26 1
13-49037976-G-A c.2211+5G>A - IntronicSNV - 21/26 1
13-49037976-G-T c.2211+5G>T - IntronicSNV - 21/26 1
13-49038003-T-A c.2211+32T>A - IntronicSNV - 21/26 1
13-49038677-G-A c.2212-457G>A - IntronicSNV - 21/26 1
13-49038677-G-T c.2212-457G>T - IntronicSNV - 21/26 1
13-49039134-A-C c.2212A>C p.T738P Missense 22/27 - 1
13-49039134-GACATTCAAACGTGTTTTGATCAAAGAAGAGGAGTATGATTCTATTATAGTATTCTATAA-G c.2212_2270del p.T738Lfs*37 Unclassified 22/27 - 1
13-49039135-C-A c.2213C>A p.T738K Missense 22/27 - 1
13-49039136-A-G c.2214A>G p.T738= Synonymous 22/27 - 1
13-49039135-CATTCAA-C c.2215_2220del p.F739_K740del InFrameDeletion 22/27 - 1
13-49039137-T-C c.2215T>C p.F739L Missense 22/27 - 1
13-49039139-C-G c.2217C>G p.F739L Missense 22/27 - 1
13-49039139-C-A c.2217C>A p.F739L Missense 22/27 - 2
13-49039140-A-T c.2218A>T p.K740* Nonsense 22/27 - 3
13-49039143-C-A c.2221C>A p.R741S Missense 22/27 - 2
13-49039143-C-T c.2221C>T p.R741C Missense 22/27 - 1
13-49039144-CG-C c.2222del p.R741Lfs*3 Frameshift 22/27 - 1
13-49039149-T-TAA c.2227_2228insAA p.L743* Nonsense 22/27 - 1
13-49039150-TTGATCAAAGAA-T c.2228_2238del p.L743* Frameshift 22/27 - 1
13-49039155-A-T c.2233A>T p.K745* Nonsense 22/27 - 1
13-49039157-A-G c.2235A>G p.K745= Synonymous 22/27 - 1
13-49039158-G-T c.2236G>T p.E746* Nonsense 22/27 - 3
13-49039159-GAAGAGGAGTATGATT-G c.2237_2251del p.E746_S751delinsA MultiAAMissense 22/27 - 1
13-49039155-AAAG-A c.2238_2240del p.E748del InFrameDeletion 22/27 - 1
13-49039161-G-T c.2239G>T p.E747* Nonsense 22/27 - 1
13-49039163-G-T c.2241G>T p.E747D Missense 22/27 - 1
13-49039164-G-A c.2242G>A p.E748K Missense 22/27 - 1
13-49039164-GAG-TGT c.2242_2244delinsTGT p.E748C Missense 22/27 - 1
13-49039164-G-T c.2242G>T p.E748* Nonsense 22/27 - 6
13-49039169-T-TAA c.2247_2248insAA p.D750Kfs*5 Frameshift 22/27 - 1
13-49039170-G-A c.2248G>A p.D750N Missense 22/27 - 1
13-49039174-C-A c.2252C>A p.S751Y Missense 22/27 - 1
13-49039174-CTA-C c.2254_2255del p.I752Yfs*5 Frameshift 22/27 - 1
13-49039179-AT-GC c.2257_2258delinsGC p.I753A Missense 22/27 - 1
13-49039182-G-A c.2260G>A p.V754I Missense 22/27 - 1
13-49039182-G-T c.2260G>T p.V754L Missense 22/27 - 2
13-49039185-TT-AA c.2263_2264inv p.F755N Missense 22/27 - 1
13-49039186-T-C c.2264T>C p.F755S Missense 22/27 - 1
13-49039187-C-A c.2265C>A p.F755L Missense 22/27 - 1
13-49039189-TA-T c.2267del p.Y756Lfs*9 Frameshift 22/27 - 1
13-49039190-ATAACTCGGTCTT-A c.2268_2279del p.N757_F760del InFrameDeletion 22/27 - 1
13-49039190-T-A c.2268T>A p.Y756* Nonsense 22/27 - 3
13-49039190-T-G c.2268T>G p.Y756* Nonsense 22/27 - 2
13-49039191-AA-GC c.2269_2270delinsGC p.N757A Missense 22/27 - 1
13-49039191-AA-TT c.2269_2270inv p.N757F Missense 22/27 - 2
13-49039191-A-G c.2269A>G p.N757D Missense 22/27 - 1
13-49039191-A-T c.2269A>T p.N757Y Missense 22/27 - 1
13-49039192-A-C c.2270A>C p.N757T Missense 22/27 - 1
13-49039194-T-C c.2272T>C p.S758P Missense 22/27 - 1
13-49039195-C-A c.2273C>A p.S758* Nonsense 22/27 - 2
13-49039195-C-T c.2273C>T p.S758L Missense 22/27 - 3
13-49039196-G-A c.2274G>A p.S758= Synonymous 22/27 - 2
13-49039196-G-C c.2274G>C p.S758= Synonymous 22/27 - 1
13-49039196-G-T c.2274G>T p.S758= Synonymous 22/27 - 2
13-49039197-GTCT-G c.2278_2280del p.F760del InFrameDeletion 22/27 - 1
13-49039203-AT-GC c.2281_2282delinsGC p.M761A Missense 22/27 - 1
13-49039203-CA-C c.2281del p.M761Cfs*4 Frameshift 22/27 - 1
13-49039204-T-C c.2282T>C p.M761T Missense 22/27 - 1
13-49039206-C-T c.2284C>T p.Q762* Nonsense 22/27 - 2
13-49039209-A-T c.2287A>T p.R763* Nonsense 22/27 - 2
13-49039206-CAG-C c.2288_2289del p.R763Tfs*31 Frameshift 22/27 - 2
13-49039214-GAAAAC-G c.2296_2300del p.T766Yfs*27 Frameshift 22/27 - 1
13-49039219-C-A c.2297C>A p.T766K Missense 22/27 - 1
13-49039219-CAA-AAGC c.2297_2299delinsAAGC p.T766Kfs*29 Frameshift 22/27 - 1
13-49039224-TATTTTGCAGTA-T c.2302_2312del p.I768Cfs*23 Frameshift 22/27 - 1
13-49039230-C-T c.2308C>T p.Q770* Nonsense 22/27 - 2
13-49039232-G-C c.2310G>C p.Q770H Missense 22/27 - 1
13-49039232-G-T c.2310G>T p.Q770H Missense 22/27 - 1
13-49039235-T-G c.2313T>G p.Y771* Nonsense 22/27 - 1
13-49039240-C-T c.2318C>T p.S773F Missense 22/27 - 2
13-49039242-A-G c.2320A>G p.T774A Missense 22/27 - 1
13-49039242-CA-C c.2320del p.T774Pfs*36 Frameshift 22/27 - 1
13-49039244-C-CT c.2322_2323insT p.R775* Nonsense 22/27 - 1
13-49039244-C-CA c.2323dup p.R775Kfs*20 SpliceDonorInsertion 22/27 - 1
13-49039245-AGG-CAT c.2323_2325delinsCAT p.R775H Missense 22/27 - 1
13-49039248-G-A c.2325+1G>A - IntronicSNV - 22/26 4
13-49039248-G-T c.2325+1G>T - IntronicSNV - 22/26 1
13-49039252-G-A c.2325+5G>A - IntronicSNV - 22/26 1
13-49039255-A-G c.2325+8A>G - IntronicSNV - 22/26 1
13-49039265-T-C c.2325+18T>C - IntronicSNV - 22/26 1
13-49039341-CC-GT c.2326_2327delinsGT p.P776V Missense 23/27 - 1
13-49039342-C-T c.2327C>T p.P776L Missense 23/27 - 1
13-49039340-GC-G c.2330del p.P777Lfs*33 Frameshift 23/27 - 3
13-49039340-G-GC c.2330dup p.T778Yfs*17 Frameshift 23/27 - 1
13-49039345-C-CT c.2331dup p.T778Yfs*17 Frameshift 23/27 - 1
13-49039347-A-T c.2332A>T p.T778S Missense 23/27 - 2
13-49039347-TACCTTGTCAC-T c.2332_2341del p.T778Qfs*29 Frameshift 23/27 - 1
13-49039348-C-G c.2333C>G p.T778S Missense 23/27 - 1
13-49039347-AC-A c.2334del p.L779Cfs*31 Frameshift 23/27 - 1
13-49039351-T-A c.2336T>A p.L779* Nonsense 23/27 - 1
13-49039353-TCA-GAC c.2338_2340delinsGAC p.S780D Missense 23/27 - 1
13-49039353-T-G c.2338T>G p.S780A Missense 23/27 - 1
13-49039355-A-C c.2340A>C p.S780= Synonymous 23/27 - 1
13-49039357-C-A c.2342C>A p.P781Q Missense 23/27 - 1
13-49039371-C-T c.2356C>T p.P786S Missense 23/27 - 2
13-49039374-C-T c.2359C>T p.R787* Nonsense 23/27 - 36
13-49039375-CG-C c.2360del p.R787Qfs*23 Frameshift 23/27 - 1
13-49039375-G-A c.2360G>A p.R787Q Missense 23/27 - 4
13-49039385-C-A c.2370C>A p.Y790* Nonsense 23/27 - 2
13-49039385-C-G c.2370C>G p.Y790* Nonsense 23/27 - 2
13-49039386-A-T c.2371A>T p.K791* Nonsense 23/27 - 1
13-49039399-C-A c.2384C>A p.S795* Nonsense 23/27 - 2
13-49039399-C-G c.2384C>G p.S795* Nonsense 23/27 - 1
13-49039402-C-T c.2387C>T p.P796L Missense 23/27 - 1
13-49039403-CT-C c.2390del p.L797Yfs*13 Frameshift 23/27 - 1
13-49039405-T-C c.2390T>C p.L797S Missense 23/27 - 1
13-49039407-C-T c.2392C>T p.R798W Missense 23/27 - 4
13-49039408-G-A c.2393G>A p.R798Q Missense 23/27 - 3
13-49039408-G-T c.2393G>T p.R798L Missense 23/27 - 1
13-49039407-CG-C c.2394del p.I799Ffs*11 Frameshift 23/27 - 1
13-49039416-G-T c.2401G>T p.G801* Nonsense 23/27 - 2
13-49039417-G-C c.2402G>C p.G801A Missense 23/27 - 2
13-49039418-GA-G c.2403del p.N803Tfs*7 Frameshift 23/27 - 1
13-49039421-G-A c.2406G>A p.G802= Synonymous 23/27 - 2
13-49039425-A-G c.2410A>G p.I804V Missense 23/27 - 1
13-49039428-T-G c.2413T>G p.Y805D Missense 23/27 - 1
13-49039434-T-G c.2419T>G p.S807A Missense 23/27 - 2
13-49039435-C-A c.2420C>A p.S807* Nonsense 23/27 - 3
13-49039435-C-G c.2420C>G p.S807* Nonsense 23/27 - 3
13-49039436-AC-A c.2425del p.L809* Frameshift 23/27 - 2
13-49039440-C-A c.2425C>A p.L809M Missense 23/27 - 1
13-49039443-AA-GC c.2428_2429delinsGC p.K810A Missense 23/27 - 1
13-49039443-A-T c.2428A>T p.K810* Nonsense 23/27 - 1
13-49039446-AG-GA c.2431_2432delinsGA p.S811D Missense 23/27 - 1
13-49039446-AG-GC c.2431_2432delinsGC p.S811A Missense 23/27 - 2
13-49039452-ATATAAAATTT-A c.2437_2446del p.Y813Qfs*10 Frameshift 23/27 - 1
13-49039454-T-A c.2439T>A p.Y813* Nonsense 23/27 - 1
13-49039454-T-G c.2439T>G p.Y813* Nonsense 23/27 - 3
13-49039455-A-T c.2440A>T p.K814* Nonsense 23/27 - 1
13-49039461-T-G c.2446T>G p.S816A Missense 23/27 - 1
13-49039462-C-A c.2447C>A p.S816* Nonsense 23/27 - 1
13-49039462-C-G c.2447C>G p.S816* Nonsense 23/27 - 1
13-49039464-G-T c.2449G>T p.E817* Nonsense 23/27 - 1
13-49039470-C-G c.2455C>G p.L819V Missense 23/27 - 8
13-49039471-T-TG c.2457dup p.P820Afs*18 Frameshift 23/27 - 1
13-49039473-C-T c.2458C>T p.P820S Missense 23/27 - 1
13-49039476-A-G c.2461A>G p.T821A Missense 23/27 - 1
13-49039477-C-G c.2462C>G p.T821R Missense 23/27 - 1
13-49039475-AACACCAACAAAAATG-A c.2463_2477del p.T823_P827del InFrameDeletion 23/27 - 1
13-49039479-C-G c.2464C>G p.P822A Missense 23/27 - 1
13-49039482-A-G c.2467A>G p.T823A Missense 23/27 - 1
13-49039483-AC-A c.2468del p.T823Kfs*3 Frameshift 23/27 - 1
13-49039488-A-G c.2473A>G p.M825V Missense 23/27 - 1
13-49039489-T-G c.2474T>G p.M825R Missense 23/27 - 1
13-49039491-AC-GA c.2476_2477delinsGA p.T826D Missense 23/27 - 1
13-49039491-ACT-GAG c.2476_2478delinsGAG p.T826E Missense 23/27 - 1
13-49039491-A-G c.2476A>G p.T826A Missense 23/27 - 2
13-49039494-C-T c.2479C>T p.P827S Missense 23/27 - 3
13-49039498-G-C c.2483G>C p.R828T Missense 23/27 - 1
13-49039501-C-A c.2486C>A p.S829* Nonsense 23/27 - 1
13-49039501-C-G c.2486C>G p.S829* Nonsense 23/27 - 2
13-49039503-A-T c.2488A>T p.R830* Nonsense 23/27 - 1
13-49039504-G-A c.2489G>A p.R830K Missense 23/27 - 1
13-49039504-G-T c.2489G>T p.R830I Missense 23/27 - 1
13-49039505-G-A c.2489+1G>A - IntronicSNV - 23/26 3
13-49039505-G-C c.2489+1G>C - IntronicSNV - 23/26 1
13-49047451-A-G c.2490-45A>G - IntronicSNV - 23/26 1
13-49047453-A-G c.2490-43A>G - IntronicSNV - 23/26 1
13-49047497-A-G c.2491A>G p.I831V Missense 24/27 - 2
13-49047500-CTT-C c.2494_2495del p.L832Sfs*5 Frameshift 24/27 - 1
13-49047503-G-GT c.2498dup p.S834Ifs*4 Frameshift 24/27 - 1
13-49047507-C-A c.2501C>A p.S834* Nonsense 24/27 - 2
13-49047507-C-G c.2501C>G p.S834* Nonsense 24/27 - 4
13-49047512-G-A c.2506G>A p.G836S Missense 24/27 - 1
13-49047513-G-A c.2507G>A p.G836D Missense 24/27 - 1
13-49047515-G-A c.2509G>A p.E837K Missense 24/27 - 2
13-49047515-G-T c.2509G>T p.E837* Nonsense 24/27 - 1
13-49047516-A-G c.2510A>G p.E837G Missense 24/27 - 1
13-49047519-C-G c.2513C>G p.S838* Nonsense 24/27 - 2
13-49047521-TTCGGGG-T c.2517_2520+2del - SpliceDonorDeletion 24/27 24/26 1
13-49047523-C-A c.2517C>A p.F839L Missense 24/27 - 1
13-49047524-G-A c.2518G>A p.G840R Missense 24/27 - 1
13-49047524-G-C c.2518G>C p.G840R Missense 24/27 - 1
13-49047525-G-T c.2519G>T p.G840V Missense 24/27 - 1
13-49047523-CGG-C c.2520_2520+1del - SpliceDonorDeletion 24/27 24/26 1
13-49047527-G-A c.2520+1G>A - IntronicSNV - 24/26 2
13-49047527-G-T c.2520+1G>T - IntronicSNV - 24/26 1
13-49047526-GGTGA-G c.2520+3_2520+6del - SpliceDonorDeletion - 24/26 2
13-49047531-G-A c.2520+5G>A - IntronicSNV - 24/26 1
13-49047531-G-T c.2520+5G>T - IntronicSNV - 24/26 2
13-49047532-T-C c.2520+6T>C - IntronicSNV - 24/26 1
13-49047931-G-A c.2520+405G>A - IntronicSNV - 24/26 2
13-49047931-G-T c.2520+405G>T - IntronicSNV - 24/26 2
13-49048919-T-C c.2520+1393T>C - IntronicSNV - 24/26 1
13-49049059-C-G c.2520+1533C>G - IntronicSNV - 24/26 3
13-49050826-G-A c.2521-11G>A - IntronicSNV - 24/26 1
13-49050837-ACT-TAA c.2521_2523delinsTAA p.T841* Nonsense 25/27 - 1
13-49050839-T-G c.2523T>G p.T841= Synonymous 25/27 - 1
13-49050847-AG-GC c.2531_2532delinsGC p.K844S Missense 25/27 - 1
13-49050852-C-T c.2536C>T p.Q846* Nonsense 25/27 - 5
13-49050854-G-C c.2538G>C p.Q846H Missense 25/27 - 1
13-49050859-T-C c.2543T>C p.I848T Missense 25/27 - 1
13-49050861-AATCAG-A c.2548_2552del p.Q850Gfs*3 Frameshift 25/27 - 1
13-49050864-C-T c.2548C>T p.Q850* Nonsense 25/27 - 5
13-49050867-AT-GC c.2551_2552delinsGC p.M851A Missense 25/27 - 1
13-49050869-G-A c.2553G>A p.M851I Missense 25/27 - 1
13-49050869-G-C c.2553G>C p.M851I Missense 25/27 - 1
13-49050869-G-T c.2553G>T p.M851I Missense 25/27 - 1
13-49050870-G-T c.2554G>T p.V852L Missense 25/27 - 1
13-49050870-G-GT c.2555dup p.C853Mfs*2 Frameshift 25/27 - 1
13-49050871-T-C c.2555T>C p.V852A Missense 25/27 - 1
13-49050875-GT-G c.2559del p.C853* Frameshift 25/27 - 1
13-49050881-C-T c.2565C>T p.S855= Synonymous 25/27 - 1
13-49050882-G-A c.2566G>A p.D856N Missense 25/27 - 1
13-49050882-G-T c.2566G>T p.D856Y Missense 25/27 - 1
13-49050885-C-T c.2569C>T p.R857C Missense 25/27 - 1
13-49050886-G-A c.2570G>A p.R857H Missense 25/27 - 1
13-49050886-G-C c.2570G>C p.R857P Missense 25/27 - 2
13-49050888-G-A c.2572G>A p.V858M Missense 25/27 - 1
13-49050898-AGAAGTGCTGAAGGAAGCAACCCTCCTAAACCACTGAAAAAACTACGCTTTGATATTG-A c.2582_2638del p.R861_E880delinsK MultiAAMissense 25/27 - 1
13-49050898-GAAGTGCTGAAGGAAGCAACCCTCCTAAACCACTGAAAAAACTACGCTTTGATATTG-A c.2582_2638delinsA p.R861Kfs*5 MultiAAMissense 25/27 - 1
13-49050900-A-G c.2584A>G p.S862G Missense 25/27 - 1
13-49050906-G-T c.2590G>T p.E864* Nonsense 25/27 - 4
13-49050913-GCAACC-G c.2599_2603del p.N867Sfs*2 Frameshift 25/27 - 1
13-49050919-C-T c.2603C>T p.P868L Missense 25/27 - 1
13-49050921-C-T c.2605C>T p.P869S Missense 25/27 - 1
13-49050922-C-T c.2606C>T p.P869L Missense 25/27 - 1
13-49050928-C-G c.2612C>G p.P871R Missense 25/27 - 1
13-49050928-C-T c.2612C>T p.P871L Missense 25/27 - 1
13-49050930-C-A c.2614C>A p.L872M Missense 25/27 - 1
13-49050931-T-C c.2615T>C p.L872P Missense 25/27 - 1
13-49050933-A-C c.2617A>C p.K873Q Missense 25/27 - 1
13-49050936-A-C c.2620A>C p.K874Q Missense 25/27 - 1
13-49050932-G-GA c.2622dup p.L875Tfs*4 Frameshift 25/27 - 2
13-49050942-C-T c.2626C>T p.R876C Missense 25/27 - 4
13-49050943-G-A c.2627G>A p.R876H Missense 25/27 - 1
13-49050944-C-A c.2628C>A p.R876= Synonymous 25/27 - 1
13-49050944-C-G c.2628C>G p.R876= Synonymous 25/27 - 1
13-49050944-C-T c.2628C>T p.R876= Synonymous 25/27 - 1
13-49050945-T-C c.2629T>C p.F877L Missense 25/27 - 29
13-49050947-T-A c.2631T>A p.F877L Missense 25/27 - 24
13-49050947-T-G c.2631T>G p.F877L Missense 25/27 - 24
13-49050957-G-A c.2641G>A p.G881R Missense 25/27 - 1
13-49050961-C-T c.2645C>T p.S882L Missense 25/27 - 1
13-49050963-G-A c.2647G>A p.D883N Missense 25/27 - 1
13-49050968-A-G c.2652A>G p.E884= Synonymous 25/27 - 1
13-49050970-C-A c.2654C>A p.A885E Missense 25/27 - 1
13-49050970-CAGATGGAAGGTAGGA-C c.2656_2663+7del - SpliceDonorDeletion 25/27 25/26 1
13-49050972-G-A c.2656G>A p.D886N Missense 25/27 - 1
13-49050975-G-A c.2659G>A p.G887R Missense 25/27 - 1
13-49050978-AG-GC c.2662_2663delinsGC p.S888A Missense 25/27 - 1
13-49050979-G-A c.2663G>A p.S888N Missense 25/27 - 2
13-49050980-G-A c.2663+1G>A - IntronicSNV - 25/26 2
13-49050980-G-T c.2663+1G>T - IntronicSNV - 25/26 1
13-49050981-T-C c.2663+2T>C - IntronicSNV - 25/26 2
13-49051012-C-T c.2663+33C>T - IntronicSNV - 25/26 3
13-49051410-C-T c.2664-81C>T - IntronicSNV - 25/26 1
13-49051481-T-A c.2664-10T>A - IntronicSNV - 25/26 6
13-49051491-T-C c.2664T>C p.S888= Synonymous 26/27 - 1
13-49051492-A-G c.2665A>G p.K889E Missense 26/27 - 1
13-49051508-A-T c.2681A>T p.E894V Missense 26/27 - 1
13-49051519-C-T c.2692C>T p.Q898* Nonsense 26/27 - 1
13-49051521-G-T c.2694G>T p.Q898H Missense 26/27 - 1
13-49051524-G-GTT c.2697_2698insTT p.K900Lfs*6 Frameshift 26/27 - 1
13-49051524-G-GAC c.2698_2699insCA p.K900Tfs*6 Frameshift 26/27 - 1
13-49051532-C-A c.2705C>A p.A902E Missense 26/27 - 2
13-49051539-G-A c.2712G>A p.M904I Missense 26/27 - 1
13-49051539-G-C c.2712G>C p.M904I Missense 26/27 - 1
13-49051539-G-T c.2712G>T p.M904I Missense 26/27 - 1
13-49054143-G-A c.2723G>A p.R908Q Missense 27/27 - 1
13-49054146-C-A c.2726C>A p.T909K Missense 27/27 - 1
13-49054146-C-T c.2726C>T p.T909I Missense 27/27 - 1
13-49054149-G-A c.2729G>A p.R910Q Missense 27/27 - 1
13-49054160-C-A c.2740C>A p.Q914K Missense 27/27 - 1
13-49054172-G-A c.2752G>A p.D918N Missense 27/27 - 1
13-49054172-G-C c.2752G>C p.D918H Missense 27/27 - 1
13-49054177-C-G c.2757C>G p.S919R Missense 27/27 - 1
13-49054184-A-G c.2764A>G p.T922A Missense 27/27 - 1
13-49054194-A-G c.2774A>G p.K925R Missense 27/27 - 1
13-49054523-T-A c.*316T>A - 3-UTRSNV 27/27 - 1
13-49054781-T-C c.*574T>C - 3-UTRSNV 27/27 - 1
13-49055243-G-T c.*1036G>T - 3-UTRSNV 27/27 - 1