BRCA2 BRCA2 DNA repair associated

Annotation transcript: NM_000059.4

6715 unique variant annotations were identified in 2865 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
13-32889647-A-C c.-197A>C - 5_prime_UTR_variant 1/27 - 1
13-32889669-C-T c.-175C>T - 5_prime_UTR_variant 1/27 - 1
13-32889762-G-C c.-82G>C - 5_prime_UTR_variant 1/27 - 1
13-32889792-A-C c.-52A>C - 5_prime_UTR_variant 1/27 - 8
13-32889792-A-G c.-52A>G - 5_prime_UTR_variant 1/27 - 8
13-32889829-G-C c.-40+25G>C - intron_variant - 1/26 1
13-32889968-G-A c.-40+164G>A - intron_variant - 1/26 5
13-32890026-C-A c.-40+222C>A - intron_variant - 1/26 5
13-32890026-C-T c.-40+222C>T - intron_variant - 1/26 5
13-32890227-G-A c.-39-332G>A - IntronicSNV - 1/26 5
13-32890227-G-T c.-39-332G>T - IntronicSNV - 1/26 5
13-32890558-G-A c.-39-1G>A - IntronicSNV - 1/26 1
13-32890572-G-T c.-26G>T - 5-UTRSNV 2/27 - 25
13-32890572-G-A c.-26G>A - 5-UTRSNV 2/27 - 25
13-32890572-G-C c.-26G>C - 5-UTRSNV 2/27 - 25
13-32890583-A-C c.-15A>C - 5-UTRSNV 2/27 - 1
13-32890583-A-T c.-15A>T - 5-UTRSNV 2/27 - 1
13-32890587-C-T c.-11C>T - 5-UTRSNV 2/27 - 2
13-32890598-A-C c.1A>C p.M1? Missense 2/27 - 1
13-32890598-A-G c.1A>G p.M1? Missense 2/27 - 3
13-32890599-T-A c.2T>A p.M1? Missense 2/27 - 1
13-32890599-T-C c.2T>C p.M1? Missense 2/27 - 3
13-32890599-T-G c.2T>G p.M1? Missense 2/27 - 14
13-32890600-G-A c.3G>A p.M1? Missense 2/27 - 10
13-32890600-G-T c.3G>T p.M1? Missense 2/27 - 1
13-32890603-T-G c.6T>G p.P2= Synonymous 2/27 - 1
13-32890603-T-A c.6T>A p.P2= Synonymous 2/27 - 1
13-32890603-T-C c.6T>C p.P2= Synonymous 2/27 - 1
13-32890604-A-G c.7A>G p.I3V Missense 2/27 - 1
13-32890606-T-C c.9T>C p.I3= Synonymous 2/27 - 1
13-32890606-T-A c.9T>A p.I3= Synonymous 2/27 - 1
13-32890607-G-A c.10G>A p.G4R Missense 2/27 - 1
13-32890607-G-T c.10G>T p.G4* Nonsense 2/27 - 1
13-32890610-T-G c.13T>G p.S5A Missense 2/27 - 1
13-32890611-C-A c.14C>A p.S5Y Missense 2/27 - 1
13-32890612-CAAAG-C c.17_20del p.K6Rfs*18 Frameshift 2/27 - 2
13-32890610-TCCAAAGAGAGG-T c.18_28del p.K6Nfs*4 Frameshift 2/27 - 2
13-32890616-G-C c.19G>C p.E7Q Missense 2/27 - 1
13-32890616-G-T c.19G>T p.E7* Nonsense 2/27 - 2
13-32890613-AAAGAGAGGCCAACATTTTTTGAAATTTTT-A c.21_49del p.E7Dfs*14 Frameshift 2/27 - 2
13-32890614-AAG-A c.22_23del p.R8Afs*5 Frameshift 2/27 - 3
13-32890622-C-CGCGCCGCGG c.25_26insGCGCCGCGG p.P9delinsRAAA MultiAAMissense 2/27 - 1
13-32890621-GC-G c.26del p.P9Qfs*16 Frameshift 2/27 - 4
13-32890623-C-T c.26C>T p.P9L Missense 2/27 - 1
13-32890623-C-A c.26C>A p.P9Q Missense 2/27 - 1
13-32890626-C-A c.29C>A p.T10K Missense 2/27 - 1
13-32890628-TT-CG c.31_32delinsCG p.F11R Missense 2/27 - 14
13-32890628-TT-AA c.31_32inv p.F11N Missense 2/27 - 2
13-32890628-T-C c.31T>C p.F11L Missense 2/27 - 1
13-32890630-T-A c.33T>A p.F11L Missense 2/27 - 1
13-32890630-T-G c.33T>G p.F11L Missense 2/27 - 1
13-32890631-TTT-AAG c.34_36delinsAAG p.F12K Missense 2/27 - 9
13-32890631-T-G c.34T>G p.F12V Missense 2/27 - 2
13-32890627-AT-A c.36del p.F12Lfs*13 Frameshift 2/27 - 3
13-32890627-A-AT c.36dup p.E13* Nonsense 2/27 - 1
13-32890629-TTTTTGAAA-T c.37_44del p.E13* Frameshift 2/27 - 1
13-32890635-A-G c.38A>G p.E13G Missense 2/27 - 1
13-32890636-AATTTTTAAGACACGCTGCAACAAAGCAGGTATTGAC-A c.41_67+9del - SpliceDonorDeletion 2/27 2/26 1
13-32890638-T-A c.41T>A p.I14N Missense 2/27 - 1
13-32890638-T-C c.41T>C p.I14T Missense 2/27 - 1
13-32890639-T-G c.42T>G p.I14M Missense 2/27 - 1
13-32890637-ATTT-A c.43_45del p.F15del InFrameDeletion 2/27 - 1
13-32890640-TT-GA c.43_44delinsGA p.F15D Missense 2/27 - 1
13-32890641-TT-AA c.44_45inv p.F15* Nonsense 2/27 - 1
13-32890639-T-TTTA c.44_45insATT p.I14_F15insL InFrameInsertion 2/27 - 2
13-32890641-T-G c.44T>G p.F15C Missense 2/27 - 1
13-32890644-A-G c.47A>G p.K16R Missense 2/27 - 1
13-32890644-AAGACACGCTGCAACAAAGCAGGTATTGACAAATTTTATATAACTTTATAAATTACACCG-A c.50_67+41del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 2/27 2/26 1
13-32890645-GAC-G c.51_52del p.R18Lfs*12 Frameshift 2/27 - 3
13-32890647-C-CA c.51dup p.R18Tfs*13 Frameshift 2/27 - 1
13-32890649-C-CA c.52_53insA p.R18Qfs*13 Frameshift 2/27 - 1
13-32890649-C-T c.52C>T p.R18C Missense 2/27 - 1
13-32890650-G-A c.53G>A p.R18H Missense 2/27 - 15
13-32890652-TGC-GAG c.55_57delinsGAG p.C19E Missense 2/27 - 1
13-32890654-C-G c.57C>G p.C19W Missense 2/27 - 1
13-32890655-AAC-TAA c.58_60delinsTAA p.N20* Nonsense 2/27 - 1
13-32890653-GCAA-G c.60_62del p.N20del InFrameDeletion 2/27 - 2
13-32890659-A-G c.62A>G p.K21R Missense 2/27 - 3
13-32890659-A-C c.62A>C p.K21T Missense 2/27 - 1
13-32890661-G-C c.64G>C p.A22P Missense 2/27 - 1
13-32890662-C-T c.65C>T p.A22V Missense 2/27 - 2
13-32890662-C-CA c.66dup p.D23Rfs*8 SpliceDonorInsertion 2/27 - 9
13-32890663-CAG-C c.66_67del p.D23Ffs*7 SpliceDonorDeletion 2/27 - 6
13-32890664-G-T c.67G>T p.D23Y Missense 2/27 - 3
13-32890664-G-A c.67G>A p.D23N Missense 2/27 - 2
13-32890664-G-C c.67G>C p.D23H Missense 2/27 - 2
13-32890665-G-A c.67+1G>A - IntronicSNV - 2/26 6
13-32890663-AG-A c.67+1del - Frameshift - 2/26 1
13-32890665-G-T c.67+1G>T - IntronicSNV - 2/26 1
13-32890666-T-C c.67+2T>C - IntronicSNV - 2/26 5
13-32890667-A-G c.67+3A>G - IntronicSNV - 2/26 4
13-32890689-T-C c.67+25T>C - IntronicSNV - 2/26 1
13-32890721-A-C c.67+57A>C - IntronicSNV - 2/26 1
13-32890726-T-G c.67+62T>G - IntronicSNV - 2/26 1
13-32890746-C-G c.67+82C>G - IntronicSNV - 2/26 1
13-32891706-A-C c.67+1042A>C - IntronicSNV - 2/26 2
13-32891706-A-G c.67+1042A>G - IntronicSNV - 2/26 2
13-32891798-T-C c.67+1134T>C - IntronicSNV - 2/26 3
13-32892820-T-C c.68-394T>C - IntronicSNV - 2/26 1
13-32893207-T-A c.68-7T>A - IntronicSNV - 2/26 1
13-32893214-GAT-G c.68_69del p.D23Vfs*7 SpliceAcceptorDeletion 3/27 - 5
13-32893214-A-G c.68A>G p.D23G Missense 3/27 - 3
13-32893214-GATTTAGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTCCACCCTAT-G c.69_127del p.D23Efs*3 Unclassified 3/27 - 1
13-32893217-T-A c.71T>A p.L24* Nonsense 3/27 - 1
13-32893216-T-TTGTC c.71_72insGTCT p.G25Sfs*7 Frameshift 3/27 - 1
13-32893218-TA-T c.72del p.G25Dfs*3 Frameshift 3/27 - 1
13-32893218-A-T c.72A>T p.L24F Missense 3/27 - 3
13-32893218-A-C c.72A>C p.L24F Missense 3/27 - 1
13-32893219-G-A c.73G>A p.G25R Missense 3/27 - 18
13-32893219-G-C c.73G>C p.G25R Missense 3/27 - 5
13-32893219-AGGACCAATAAGTCTTAATTGGTTTGAAGAACTTTCTTCAGAAGCTC-A c.73_118del p.G25Hfs*40 Frameshift 3/27 - 1
13-32893219-G-GAA c.73_74insAA p.G25Efs*4 Frameshift 3/27 - 1
13-32893219-GG-AC c.73_74delinsAC p.G25T Missense 3/27 - 1
13-32893219-GG-AA c.73_74delinsAA p.G25K Missense 3/27 - 1
13-32893220-G-A c.74G>A p.G25E Missense 3/27 - 3
13-32893220-G-T c.74G>T p.G25V Missense 3/27 - 1
13-32893221-A-T c.75A>T p.G25= Synonymous 3/27 - 1
13-32893221-A-G c.75A>G p.G25= Synonymous 3/27 - 1
13-32893221-A-C c.75A>C p.G25= Synonymous 3/27 - 1
13-32893222-C-T c.76C>T p.P26S Missense 3/27 - 1
13-32893224-A-G c.78A>G p.P26= Synonymous 3/27 - 2
13-32893224-A-T c.78A>T p.P26= Synonymous 3/27 - 2
13-32893224-A-C c.78A>C p.P26= Synonymous 3/27 - 2
13-32893225-A-G c.79A>G p.I27V Missense 3/27 - 7
13-32893225-ATA-TGT c.79_81delinsTGT p.I27C Missense 3/27 - 1
13-32893229-AGT-A c.83_84del p.S28Tfs*2 Frameshift 3/27 - 1
13-32893231-C-G c.85C>G p.L29V Missense 3/27 - 1
13-32893233-T-TA c.89dup p.N30Kfs*4 Frameshift 3/27 - 1
13-32893237-T-C c.91T>C p.W31R Missense 3/27 - 13
13-32893237-T-G c.91T>G p.W31G Missense 3/27 - 4
13-32893237-T-A c.91T>A p.W31R Missense 3/27 - 2
13-32893238-G-C c.92G>C p.W31S Missense 3/27 - 1
13-32893238-G-A c.92G>A p.W31* Nonsense 3/27 - 11
13-32893238-G-T c.92G>T p.W31L Missense 3/27 - 3
13-32893239-G-T c.93G>T p.W31C Missense 3/27 - 20
13-32893239-G-C c.93G>C p.W31C Missense 3/27 - 5
13-32893239-G-A c.93G>A p.W31* Nonsense 3/27 - 9
13-32893241-T-G c.95T>G p.F32C Missense 3/27 - 1
13-32893242-T-C c.96T>C p.F32= Synonymous 3/27 - 1
13-32893242-T-G c.96T>G p.F32L Missense 3/27 - 1
13-32893243-G-T c.97G>T p.E33* Nonsense 3/27 - 3
13-32893243-G-A c.97G>A p.E33K Missense 3/27 - 1
13-32893245-A-G c.99A>G p.E33= Synonymous 3/27 - 1
13-32893243-G-GA c.99dup p.E34Rfs*10 Frameshift 3/27 - 1
13-32893246-G-A c.100G>A p.E34K Missense 3/27 - 2
13-32893246-G-C c.100G>C p.E34Q Missense 3/27 - 1
13-32893248-A-G c.102A>G p.E34= Synonymous 3/27 - 1
13-32893249-C-T c.103C>T p.L35F Missense 3/27 - 1
13-32893250-T-C c.104T>C p.L35P Missense 3/27 - 1
13-32893252-T-C c.106T>C p.S36P Missense 3/27 - 1
13-32893253-C-T c.107C>T p.S36F Missense 3/27 - 1
13-32893256-CA-TT c.110_111delinsTT p.S37F Missense 3/27 - 1
13-32893256-C-G c.110C>G p.S37* Nonsense 3/27 - 1
13-32893256-C-T c.110C>T p.S37L Missense 3/27 - 1
13-32893258-G-A c.112G>A p.E38K Missense 3/27 - 4
13-32893258-G-T c.112G>T p.E38* Nonsense 3/27 - 1
13-32893261-GC-TG c.115_116delinsTG p.A39C Missense 3/27 - 1
13-32893261-AG-A c.115del p.A39Lfs*41 Frameshift 3/27 - 2
13-32893262-C-A c.116C>A p.A39D Missense 3/27 - 1
13-32893262-C-T c.116C>T p.A39V Missense 3/27 - 1
13-32893263-T-A c.117T>A p.A39= Synonymous 3/27 - 1
13-32893263-T-C c.117T>C p.A39= Synonymous 3/27 - 1
13-32893263-T-G c.117T>G p.A39= Synonymous 3/27 - 1
13-32893264-CC-TA c.118_119delinsTA p.P40* Nonsense 3/27 - 1
13-32893265-CCACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCA-C c.119_177del p.P40Qfs*4 Frameshift 3/27 - 1
13-32893265-C-CA c.120dup p.P41Tfs*3 Frameshift 3/27 - 1
13-32893266-A-T c.120A>T p.P40= Synonymous 3/27 - 1
13-32893266-A-G c.120A>G p.P40= Synonymous 3/27 - 2
13-32893266-A-C c.120A>C p.P40= Synonymous 3/27 - 1
13-32893267-C-T c.121C>T p.P41S Missense 3/27 - 1
13-32893265-CACCCTATAATTCTGAACCTGCAGAAGAATCTGAACATAAAAACAACAATTACGAACCAA-C c.123_181del p.Y42Ifs*2 InFrameDeletion 3/27 - 1
13-32893268-C-T c.122C>T p.P41L Missense 3/27 - 3
13-32893271-A-G c.125A>G p.Y42C Missense 3/27 - 40
13-32893276-T-TA c.130_131insA p.S44Yfs*2 Frameshift 3/27 - 1
13-32893279-G-T c.133G>T p.E45* Nonsense 3/27 - 2
13-32893279-G-C c.133G>C p.E45Q Missense 3/27 - 1
13-32893285-GCA-TGT c.139_141delinsTGT p.A47C Missense 3/27 - 1
13-32893286-C-T c.140C>T p.A47V Missense 3/27 - 1
13-32893286-CA-AC c.140_141delinsAC p.A47D Missense 3/27 - 1
13-32893286-GC-G c.140del p.A47Efs*33 Frameshift 3/27 - 1
13-32893288-G-A c.142G>A p.E48K Missense 3/27 - 2
13-32893289-A-G c.143A>G p.E48G Missense 3/27 - 2
13-32893290-A-G c.144A>G p.E48= Synonymous 3/27 - 1
13-32893290-A-C c.144A>C p.E48D Missense 3/27 - 1
13-32893290-A-T c.144A>T p.E48D Missense 3/27 - 1
13-32893291-G-A c.145G>A p.E49K Missense 3/27 - 1
13-32893291-G-T c.145G>T p.E49* Nonsense 3/27 - 27
13-32893291-G-C c.145G>C p.E49Q Missense 3/27 - 1
13-32893291-AGAATCTGAACATAAAAACAACAAT-A c.145_168del p.E49_N56del InFrameDeletion 3/27 - 1
13-32893294-T-G c.148T>G p.S50A Missense 3/27 - 1
13-32893300-C-T c.154C>T p.H52Y Missense 3/27 - 2
13-32893301-A-G c.155A>G p.H52R Missense 3/27 - 1
13-32893302-T-TGC c.156_157insGC p.K53Afs*28 Frameshift 3/27 - 1
13-32893303-A-G c.157A>G p.K53E Missense 3/27 - 1
13-32893303-A-T c.157A>T p.K53* Nonsense 3/27 - 1
13-32893302-T-TA c.161dup p.N54Kfs*10 Frameshift 3/27 - 50
13-32893302-TA-T c.161del p.N54Tfs*26 Frameshift 3/27 - 2
13-32893310-A-G c.164A>G p.N55S Missense 3/27 - 2
13-32893311-C-T c.165C>T p.N55= Synonymous 3/27 - 1
13-32893311-AC-A c.165del p.N55Kfs*25 Frameshift 3/27 - 1
13-32893305-AAAC-A c.165_167del p.N56del InFrameDeletion 3/27 - 1
13-32893313-A-G c.167A>G p.N56S Missense 3/27 - 1
13-32893313-A-C c.167A>C p.N56T Missense 3/27 - 4
13-32893315-TA-GC c.169_170delinsGC p.Y57A Missense 3/27 - 1
13-32893317-C-G c.171C>G p.Y57* Nonsense 3/27 - 3
13-32893317-C-A c.171C>A p.Y57* Nonsense 3/27 - 1
13-32893317-AC-A c.171del p.Y57* Frameshift 3/27 - 1
13-32893318-G-A c.172G>A p.E58K Missense 3/27 - 4
13-32893318-G-T c.172G>T p.E58* Nonsense 3/27 - 1
13-32893319-A-C c.173A>C p.E58A Missense 3/27 - 1
13-32893321-CC-TA c.175_176delinsTA p.P59* Nonsense 3/27 - 3
13-32893325-A-G c.179A>G p.N60S Missense 3/27 - 2
13-32893328-T-C c.182T>C p.L61P Missense 3/27 - 3
13-32893328-T-G c.182T>G p.L61R Missense 3/27 - 1
13-32893328-CT-C c.182del p.L61Hfs*19 Frameshift 3/27 - 1
13-32893329-A-T c.183A>T p.L61= Synonymous 3/27 - 1
13-32893329-A-G c.183A>G p.L61= Synonymous 3/27 - 1
13-32893329-A-C c.183A>C p.L61= Synonymous 3/27 - 1
13-32893327-C-T c.181C>T p.L61= Synonymous 3/27 - 1
13-32893330-TTT-GAG c.184_186delinsGAG p.F62E Missense 3/27 - 2
13-32893332-TTA-T c.186_187del p.F62Lfs*10 Frameshift 3/27 - 1
13-32893329-AT-A c.186del p.F62Lfs*18 Frameshift 3/27 - 1
13-32893333-A-C c.187A>C p.K63Q Missense 3/27 - 1
13-32893334-A-G c.188A>G p.K63R Missense 3/27 - 5
13-32893335-A-C c.189A>C p.K63N Missense 3/27 - 1
13-32893335-A-T c.189A>T p.K63N Missense 3/27 - 1
13-32893335-A-AATGATTCT c.190_191insTGATTCTA p.T64Mfs*19 Frameshift 3/27 - 1
13-32893332-T-TA c.190dup p.T64Nfs*9 Frameshift 3/27 - 1
13-32893337-C-T c.191C>T p.T64I Missense 3/27 - 2
13-32893338-T-A c.192T>A p.T64= Synonymous 3/27 - 1
13-32893338-T-G c.192T>G p.T64= Synonymous 3/27 - 1
13-32893338-T-C c.192T>C p.T64= Synonymous 3/27 - 1
13-32893339-CCA-TTT c.193_195delinsTTT p.P65F Missense 3/27 - 1
13-32893340-C-G c.194C>G p.P65R Missense 3/27 - 1
13-32893342-C-T c.196C>T p.Q66* Nonsense 3/27 - 2
13-32893343-A-C c.197A>C p.Q66P Missense 3/27 - 1
13-32893344-A-G c.198A>G p.Q66= Synonymous 3/27 - 1
13-32893344-AAGGAAACCATCTT-A c.200_212del p.R67Ifs*9 Frameshift 3/27 - 1
13-32893349-A-C c.203A>C p.K68T Missense 3/27 - 1
13-32893349-A-T c.203A>T p.K68I Missense 3/27 - 1
13-32893351-C-A c.205C>A p.P69T Missense 3/27 - 1
13-32893352-C-T c.206C>T p.P69L Missense 3/27 - 1
13-32893353-A-T c.207A>T p.P69= Synonymous 3/27 - 1
13-32893353-A-G c.207A>G p.P69= Synonymous 3/27 - 1
13-32893353-A-C c.207A>C p.P69= Synonymous 3/27 - 1
13-32893352-CATCTTATA-C c.210_217del p.Y71Afs*27 Frameshift 3/27 - 1
13-32893355-CT-C c.211del p.Y71Ifs*9 Frameshift 3/27 - 1
13-32893357-T-C c.211T>C p.Y71H Missense 3/27 - 1
13-32893360-A-C c.214A>C p.N72H Missense 3/27 - 1
13-32893361-A-G c.215A>G p.N72S Missense 3/27 - 3
13-32893363-CA-GC c.217_218delinsGC p.Q73A Missense 3/27 - 1
13-32893367-T-C c.221T>C p.L74P Missense 3/27 - 2
13-32893368-G-T c.222G>T p.L74= Synonymous 3/27 - 1
13-32893368-G-A c.222G>A p.L74= Synonymous 3/27 - 1
13-32893368-G-C c.222G>C p.L74= Synonymous 3/27 - 1
13-32893366-C-T c.220C>T p.L74= Synonymous 3/27 - 3
13-32893369-G-C c.223G>C p.A75P Missense 3/27 - 20
13-32893369-GC-TG c.223_224delinsTG p.A75C Missense 3/27 - 1
13-32893369-GCT-TGG c.223_225delinsTGG p.A75W Missense 3/27 - 1
13-32893370-C-G c.224C>G p.A75G Missense 3/27 - 1
13-32893373-C-A c.227C>A p.S76* Nonsense 3/27 - 1
13-32893373-C-G c.227C>G p.S76* Nonsense 3/27 - 1
13-32893375-A-G c.229A>G p.T77A Missense 3/27 - 3
13-32893377-T-G c.231T>G p.T77= Synonymous 3/27 - 6
13-32893375-ACT-A c.231_232del p.P78Nfs*22 Frameshift 3/27 - 1
13-32893377-T-A c.231T>A p.T77= Synonymous 3/27 - 2
13-32893377-T-C c.231T>C p.T77= Synonymous 3/27 - 2
13-32893383-A-G c.237A>G p.I79M Missense 3/27 - 1
13-32893384-A-G c.238A>G p.I80V Missense 3/27 - 1
13-32893387-T-A c.241T>A p.F81I Missense 3/27 - 2
13-32893387-TT-GC c.241_242delinsGC p.F81A Missense 3/27 - 2
13-32893388-T-G c.242T>G p.F81C Missense 3/27 - 1
13-32893390-A-T c.244A>T p.K82* Nonsense 3/27 - 2
13-32893389-C-CA c.246dup p.E83Rfs*18 Frameshift 3/27 - 1
13-32893393-G-A c.247G>A p.E83K Missense 3/27 - 1
13-32893394-A-C c.248A>C p.E83A Missense 3/27 - 1
13-32893394-A-T c.248A>T p.E83V Missense 3/27 - 1
13-32893395-AG-A c.249del p.E83Dfs*4 Frameshift 3/27 - 1
13-32893396-C-T c.250C>T p.Q84* Nonsense 3/27 - 8
13-32893396-C-G c.250C>G p.Q84E Missense 3/27 - 2
13-32893399-G-A c.253G>A p.G85R Missense 3/27 - 1
13-32893399-G-C c.253G>C p.G85R Missense 3/27 - 1
13-32893405-ACT-CAA c.259_261delinsCAA p.T87Q Missense 3/27 - 1
13-32893405-ACT-A c.262_263del p.L88Afs*12 Frameshift 3/27 - 10
13-32893412-C-T c.266C>T p.P89L Missense 3/27 - 2
13-32893413-G-A c.267G>A p.P89= Synonymous 3/27 - 1
13-32893414-C-T c.268C>T p.L90= Synonymous 3/27 - 1
13-32893419-C-A c.273C>A p.Y91* Nonsense 3/27 - 2
13-32893419-C-G c.273C>G p.Y91* Nonsense 3/27 - 2
13-32893419-C-T c.273C>T p.Y91= Synonymous 3/27 - 1
13-32893420-C-T c.274C>T p.Q92* Nonsense 3/27 - 2
13-32893421-A-G c.275A>G p.Q92R Missense 3/27 - 1
13-32893420-C-CA c.276dup p.S93Ifs*8 Frameshift 3/27 - 5
13-32893423-T-G c.277T>G p.S93A Missense 3/27 - 1
13-32893423-T-C c.277T>C p.S93P Missense 3/27 - 1
13-32893426-C-T c.280C>T p.P94S Missense 3/27 - 5
13-32893427-C-A c.281C>A p.P94H Missense 3/27 - 2
13-32893428-T-G c.282T>G p.P94= Synonymous 3/27 - 1
13-32893428-T-A c.282T>A p.P94= Synonymous 3/27 - 1
13-32893428-T-C c.282T>C p.P94= Synonymous 3/27 - 1
13-32893429-GTA-TTT c.283_285delinsTTT p.V95F Missense 3/27 - 1
13-32893429-GT-AC c.283_284inv p.V95T Missense 3/27 - 1
13-32893429-G-A c.283G>A p.V95I Missense 3/27 - 2
13-32893430-TA-AC c.284_285delinsAC p.V95D Missense 3/27 - 1
13-32893435-G-T c.289G>T p.E97* Nonsense 3/27 - 9
13-32893435-GAA-TGT c.289_291delinsTGT p.E97C Missense 3/27 - 1
13-32893436-A-T c.290A>T p.E97V Missense 3/27 - 1
13-32893433-AAGAATT-A c.291_296del p.E97_L98del InFrameDeletion 3/27 - 1
13-32893440-A-G c.294A>G p.L98= Synonymous 3/27 - 1
13-32893443-T-C c.297T>C p.D99= Synonymous 3/27 - 1
13-32893444-A-T c.298A>T p.K100* Nonsense 3/27 - 4
13-32893444-A-G c.298A>G p.K100E Missense 3/27 - 2
13-32893445-A-G c.299A>G p.K100R Missense 3/27 - 1
13-32893448-TCA-CC c.302_304delinsCC p.F101Sfs*3 Frameshift 3/27 - 1
13-32893450-A-T c.304A>T p.K102* Nonsense 3/27 - 1
13-32893449-CA-C c.306del p.K102Nfs*2 Frameshift 3/27 - 2
13-32893449-C-CA c.306dup p.L103Ifs*10 Frameshift 3/27 - 2
13-32893453-T-A c.307T>A p.L103I Missense 3/27 - 2
13-32893455-A-G c.309A>G p.L103= Synonymous 3/27 - 1
13-32893456-AGAC-A c.310_312del p.D104del InFrameDeletion 3/27 - 1
13-32893456-G-A c.310G>A p.D104N Missense 3/27 - 1
13-32893456-G-C c.310G>C p.D104H Missense 3/27 - 1
13-32893458-C-G c.312C>G p.D104E Missense 3/27 - 1
13-32893459-CTTA-C c.313_315del p.L105del InFrameDeletion 3/27 - 1
13-32893459-T-G c.313T>G p.L105V Missense 3/27 - 1
13-32893460-T-A c.314T>A p.L105* Nonsense 3/27 - 1
13-32893460-T-G c.314T>G p.L105* Nonsense 3/27 - 2
13-32893462-G-A c.316G>A p.G106R Missense 3/27 - 1
13-32893462-G-C c.316G>C p.G106R Missense 3/27 - 1
13-32893462-G-T c.316G>T p.G106* Nonsense 3/27 - 1
13-32893463-G-A c.316+1G>A - IntronicSNV - 3/26 3
13-32893463-G-C c.316+1G>C - IntronicSNV - 3/26 1
13-32893463-G-T c.316+1G>T - IntronicSNV - 3/26 3
13-32893464-T-C c.316+2T>C - IntronicSNV - 3/26 1
13-32893465-A-C c.316+3A>C - IntronicSNV - 3/26 1
13-32893464-TA-T c.316+4del - IntronicDeletion - 3/26 2
13-32893467-G-C c.316+5G>C - IntronicSNV - 3/26 7
13-32893465-AAGT-A c.316+5_316+7del - IntronicDeletion - 3/26 1
13-32893467-G-A c.316+5G>A - IntronicSNV - 3/26 2
13-32893468-T-A c.316+6T>A - IntronicSNV - 3/26 1
13-32893468-T-G c.316+6T>G - IntronicSNV - 3/26 1
13-32893468-T-C c.316+6T>C - IntronicSNV - 3/26 1
13-32893471-T-A c.316+9T>A - IntronicSNV - 3/26 1
13-32893475-A-G c.316+13A>G - IntronicSNV - 3/26 1
13-32893495-C-G c.316+33C>G - IntronicSNV - 3/26 1
13-32893535-A-G c.316+73A>G - IntronicSNV - 3/26 1
13-32893583-T-C c.316+121T>C - IntronicSNV - 3/26 1
13-32893791-A-G c.316+329A>G - IntronicSNV - 3/26 3
13-32894484-G-A c.316+1022G>A - IntronicSNV - 3/26 1
13-32895377-G-C c.316+1915G>C - IntronicSNV - 3/26 1
13-32896846-G-A c.317-2367G>A - IntronicSNV - 3/26 3
13-32898192-A-G c.317-1021A>G - IntronicSNV - 3/26 1
13-32899191-C-T c.317-22C>T - IntronicSNV - 3/26 2
13-32899203-A-G c.317-10A>G - IntronicSNV - 3/26 2
13-32899214-GAAGGAATGTTCCCAATAGTAGACATAAAAGTCTTCGCACAGTGAAAACTAAAATGGATC-G c.321_379del p.R107Sfs*3 Unclassified 4/27 - 1
13-32899216-G-C c.320G>C p.R107T Missense 4/27 - 1
13-32899218-A-C c.322A>C p.N108H Missense 4/27 - 3
13-32899219-A-C c.323A>C p.N108T Missense 4/27 - 1
13-32899219-A-G c.323A>G p.N108S Missense 4/27 - 3
13-32899224-C-T c.328C>T p.P110S Missense 4/27 - 1
13-32899224-C-G c.328C>G p.P110A Missense 4/27 - 7
13-32899224-CC-GA c.328_329delinsGA p.P110D Missense 4/27 - 1
13-32899224-CC-GG c.328_329inv p.P110G Missense 4/27 - 1
13-32899227-AA-GC c.331_332delinsGC p.N111A Missense 4/27 - 1
13-32899233-AG-GC c.337_338delinsGC p.R113A Missense 4/27 - 2
13-32899233-TAGA-T c.337_339del p.R113del InFrameDeletion 4/27 - 1
13-32899234-G-A c.338G>A p.R113K Missense 4/27 - 1
13-32899236-C-T c.340C>T p.H114Y Missense 4/27 - 1
13-32899237-CATAAAA-C c.341_346del p.H114_S116delinsR MultiAAMissense 4/27 - 1
13-32899239-A-G c.343A>G p.K115E Missense 4/27 - 1
13-32899240-A-C c.344A>C p.K115T Missense 4/27 - 1
13-32899238-TA-T c.346del p.S116Vfs*5 Frameshift 4/27 - 1
13-32899245-C-T c.349C>T p.L117F Missense 4/27 - 2
13-32899247-TTC-T c.351_352del p.R118Hfs*5 Frameshift 4/27 - 2
13-32899248-C-T c.352C>T p.R118C Missense 4/27 - 2
13-32899248-C-G c.352C>G p.R118G Missense 4/27 - 1
13-32899249-G-A c.353G>A p.R118H Missense 4/27 - 8
13-32899249-G-T c.353G>T p.R118L Missense 4/27 - 1
13-32899251-A-G c.355A>G p.T119A Missense 4/27 - 1
13-32899252-C-T c.356C>T p.T119I Missense 4/27 - 1
13-32899253-A-G c.357A>G p.T119= Synonymous 4/27 - 1
13-32899253-A-T c.357A>T p.T119= Synonymous 4/27 - 1
13-32899253-A-C c.357A>C p.T119= Synonymous 4/27 - 1
13-32899254-G-A c.358G>A p.V120M Missense 4/27 - 1
13-32899258-AA-TG c.362_363delinsTG p.K121M Missense 4/27 - 3
13-32899261-C-CT c.366dup p.K123* Nonsense 4/27 - 1
13-32899264-AAAATG-A c.368_372del p.K123Rfs*5 Frameshift 4/27 - 1
13-32899262-TA-T c.370del p.M124Wfs*12 Frameshift 4/27 - 2
13-32899262-T-TA c.370dup p.M124Nfs*6 Frameshift 4/27 - 1
13-32899269-G-T c.373G>T p.D125Y Missense 4/27 - 1
13-32899270-A-G c.374A>G p.D125G Missense 4/27 - 1
13-32899275-G-A c.379G>A p.A127T Missense 4/27 - 1
13-32899275-G-T c.379G>T p.A127S Missense 4/27 - 1
13-32899277-CAGAT-C c.381_384del p.D128Mfs*7 Frameshift 4/27 - 1
13-32899279-A-G c.383A>G p.D128G Missense 4/27 - 2
13-32899281-G-A c.385G>A p.D129N Missense 4/27 - 1
13-32899282-A-G c.386A>G p.D129G Missense 4/27 - 1
13-32899284-G-A c.388G>A p.V130I Missense 4/27 - 1
13-32899285-T-C c.389T>C p.V130A Missense 4/27 - 1
13-32899285-GTTTCCTGTCCACTTCTAA-G c.389_406del p.V130_N136delinsD MultiAAMissense 4/27 - 1
13-32899287-TC-CT c.391_392delinsCT p.S131L Missense 4/27 - 1
13-32899290-TG-GC c.394_395delinsGC p.C132A Missense 4/27 - 1
13-32899290-T-A c.394T>A p.C132S Missense 4/27 - 1
13-32899291-G-C c.395G>C p.C132S Missense 4/27 - 1
13-32899292-T-A c.396T>A p.C132* Nonsense 4/27 - 2
13-32899293-C-A c.397C>A p.P133T Missense 4/27 - 1
13-32899294-C-G c.398C>G p.P133R Missense 4/27 - 1
13-32899297-T-C c.401T>C p.L134P Missense 4/27 - 1
13-32899297-CTT-C c.401_402del p.L134Pfs*6 Frameshift 4/27 - 1
13-32899299-CTA-TTT c.403_405delinsTTT p.L135F Missense 4/27 - 1
13-32899297-TTCTAAATTCTTG-T c.405_416del p.N136_L139del InFrameDeletion 4/27 - 1
13-32899300-TA-T c.407del p.N136Ifs*16 Frameshift 4/27 - 3
13-32899305-T-G c.409T>G p.S137A Missense 4/27 - 1
13-32899308-TG-GC c.412_413delinsGC p.C138A Missense 4/27 - 1
13-32899311-C-A c.415C>A p.L139I Missense 4/27 - 1
13-32899311-C-G c.415C>G p.L139V Missense 4/27 - 1
13-32899312-T-C c.416T>C p.L139P Missense 4/27 - 1
13-32899312-T-G c.416T>G p.L139R Missense 4/27 - 1
13-32899317-G-T c.421G>T p.E141* Nonsense 4/27 - 1
13-32899318-A-C c.422A>C p.E141A Missense 4/27 - 1
13-32899321-G-T c.425G>T p.S142I Missense 4/27 - 5
13-32899321-G-A c.425G>A p.S142N Missense 4/27 - 3
13-32899322-G-A c.425+1G>A - IntronicSNV - 4/26 1
13-32899323-T-C c.425+2T>C - IntronicSNV - 4/26 2
13-32899323-T-A c.425+2T>A - IntronicSNV - 4/26 1
13-32899323-T-G c.425+2T>G - IntronicSNV - 4/26 1
13-32899350-T-C c.425+29T>C - IntronicSNV - 4/26 1
13-32899354-A-G c.425+33A>G - IntronicSNV - 4/26 2
13-32899388-A-C c.425+67A>C - IntronicSNV - 4/26 7
13-32900149-T-C c.426-89T>C - IntronicSNV - 4/26 3
13-32900238-GT-G c.426del p.P143Lfs*9 Frameshift 5/27 - 1
13-32900239-C-T c.427C>T p.P143S Missense 5/27 - 1
13-32900238-T-TC c.428dup p.V144Cfs*14 Frameshift 5/27 - 1
13-32900242-G-T c.430G>T p.V144F Missense 5/27 - 1
13-32900243-T-C c.431T>C p.V144A Missense 5/27 - 1
13-32900243-TTG-T c.433_434del p.V145Sfs*12 Frameshift 5/27 - 1
13-32900240-CTGT-C c.433_435del p.V145del InFrameDeletion 5/27 - 4
13-32900246-T-G c.434T>G p.V145G Missense 5/27 - 1
13-32900251-C-T c.439C>T p.Q147* Nonsense 5/27 - 1
13-32900252-A-G c.440A>G p.Q147R Missense 5/27 - 10
13-32900253-A-G c.441A>G p.Q147= Synonymous 5/27 - 2
13-32900254-TG-GC c.442_443delinsGC p.C148A Missense 5/27 - 1
13-32900254-T-C c.442T>C p.C148R Missense 5/27 - 1
13-32900252-AATGTAC-A c.442_447del p.C148_T149del InFrameDeletion 5/27 - 1
13-32900256-T-C c.444T>C p.C148= Synonymous 5/27 - 1
13-32900257-ACA-GAC c.445_447delinsGAC p.T149D Missense 5/27 - 1
13-32900257-A-G c.445A>G p.T149A Missense 5/27 - 2
13-32900257-AC-GA c.445_446delinsGA p.T149E Missense 5/27 - 1
13-32900257-A-C c.445A>C p.T149P Missense 5/27 - 1
13-32900261-A-G c.449A>G p.H150R Missense 5/27 - 1
13-32900264-T-C c.452T>C p.V151A Missense 5/27 - 1
13-32900266-ACA-TGT c.454_456inv p.T152C Missense 5/27 - 2
13-32900271-A-T c.459A>T p.P153= Synonymous 5/27 - 1
13-32900271-A-G c.459A>G p.P153= Synonymous 5/27 - 1
13-32900271-A-C c.459A>C p.P153= Synonymous 5/27 - 1
13-32900273-A-G c.461A>G p.Q154R Missense 5/27 - 1
13-32900272-CAA-C c.462_463del p.D156* Frameshift 5/27 - 7
13-32900275-AG-CA c.463_464delinsCA p.R155Q Missense 5/27 - 1
13-32900275-AG-CC c.463_464delinsCC p.R155P Missense 5/27 - 1
13-32900275-AG-CT c.463_464inv p.R155L Missense 5/27 - 1
13-32900276-G-C c.464G>C p.R155T Missense 5/27 - 3
13-32900276-G-A c.464G>A p.R155K Missense 5/27 - 2
13-32900276-G-T c.464G>T p.R155I Missense 5/27 - 1
13-32900276-AGAGAT-A c.464_468del p.R155Kfs*26 Frameshift 5/27 - 2
13-32900276-G-GATA c.465_466insTAA p.R155_D156ins* InFrameInsertion 5/27 - 2
13-32900278-GAT-TAA c.466_468delinsTAA p.D156* Nonsense 5/27 - 1
13-32900274-AAG-A c.466_467del p.D156* Frameshift 5/27 - 2
13-32900279-A-G c.467A>G p.D156G Missense 5/27 - 2
13-32900280-T-G c.468T>G p.D156E Missense 5/27 - 2
13-32900280-T-A c.468T>A p.D156E Missense 5/27 - 1
13-32900279-A-AT c.468dup p.K157* Nonsense 5/27 - 1
13-32900281-TAA-T c.469_470del p.K157Vfs*25 Frameshift 5/27 - 7
13-32900281-A-T c.469A>T p.K157* Nonsense 5/27 - 3
13-32900280-TAAGTC-T c.470_474del p.K157Sfs*24 SpliceDonorDeletion 5/27 - 11
13-32900282-A-C c.470A>C p.K157T Missense 5/27 - 1
13-32900282-AAG-A c.470_471del p.K157Ifs*25 Frameshift 5/27 - 1
13-32900284-TCA-GAC c.472_474delinsGAC p.S158D Missense 5/27 - 2
13-32900284-T-G c.472T>G p.S158A Missense 5/27 - 1
13-32900284-T-C c.472T>C p.S158P Missense 5/27 - 2
13-32900285-C-A c.473C>A p.S158* Nonsense 5/27 - 2
13-32900285-C-G c.473C>G p.S158* Nonsense 5/27 - 1
13-32900285-C-T c.473C>T p.S158L Missense 5/27 - 1
13-32900285-C-CA c.474dup p.V159Sfs*24 SpliceDonorInsertion 5/27 - 1
13-32900286-A-AC c.474_475insC p.V159Rfs*24 SpliceDonorInsertion 5/27 - 1
13-32900286-A-AT c.474_475insT p.V159Cfs*24 SpliceDonorInsertion 5/27 - 1
13-32900287-G-A c.475G>A p.V159M Missense 5/27 - 8
13-32900288-G-A c.475+1G>A - IntronicSNV - 5/26 7
13-32900288-G-T c.475+1G>T - IntronicSNV - 5/26 3
13-32900290-A-G c.475+3A>G - IntronicSNV - 5/26 1
13-32900296-A-T c.475+9A>T - IntronicSNV - 5/26 1
13-32900379-T-A c.476T>A p.V159E Missense 6/27 - 1
13-32900379-T-C c.476T>C p.V159A Missense 6/27 - 2
13-32900381-G-A c.478G>A p.V160I Missense 6/27 - 1
13-32900383-A-G c.480A>G p.V160= Synonymous 6/27 - 1
13-32900384-TG-GC c.481_482delinsGC p.C161A Missense 6/27 - 1
13-32900385-G-A c.482G>A p.C161Y Missense 6/27 - 1
13-32900385-TG-T c.482del p.C161Lfs*11 Frameshift 6/27 - 1
13-32900386-T-A c.483T>A p.C161* Nonsense 6/27 - 2
13-32900386-T-G c.483T>G p.C161W Missense 6/27 - 3
13-32900386-TG-T c.486del p.S163Vfs*9 Frameshift 6/27 - 1
13-32900388-GGA-G c.487_488del p.S163Ffs*19 Frameshift 6/27 - 1
13-32900391-AGT-A c.488_489del p.S163Ifs*19 Frameshift 6/27 - 1
13-32900392-T-TG c.489_490insG p.L164Vfs*19 Frameshift 6/27 - 1
13-32900391-G-GTTAAATGC c.490_491insAAATGCTT p.L164* Nonsense 6/27 - 1
13-32900394-T-A c.491T>A p.L164* Nonsense 6/27 - 1
13-32900394-T-G c.491T>G p.L164W Missense 6/27 - 1
13-32900395-G-T c.492G>T p.L164F Missense 6/27 - 1
13-32900395-GT-G c.495del p.H166Ifs*6 Frameshift 6/27 - 1
13-32900399-C-T c.496C>T p.H166Y Missense 6/27 - 3
13-32900399-C-A c.496C>A p.H166N Missense 6/27 - 1
13-32900400-A-G c.497A>G p.H166R Missense 6/27 - 1
13-32900402-A-G c.499A>G p.T167A Missense 6/27 - 1
13-32900405-C-A c.502C>A p.P168T Missense 6/27 - 7
13-32900405-C-G c.502C>G p.P168A Missense 6/27 - 3
13-32900409-A-G c.506A>G p.K169R Missense 6/27 - 4
13-32900418-A-G c.515A>G p.K172R Missense 6/27 - 1
13-32900419-G-A c.516G>A p.K172= Synonymous 6/27 - 5
13-32900420-G-C c.516+1G>C - IntronicSNV - 6/26 2
13-32900420-G-A c.516+1G>A - IntronicSNV - 6/26 7
13-32900420-G-T c.516+1G>T - IntronicSNV - 6/26 8
13-32900421-T-C c.516+2T>C - IntronicSNV - 6/26 1
13-32900422-A-G c.516+3A>G - IntronicSNV - 6/26 1
13-32900422-A-T c.516+3A>T - IntronicSNV - 6/26 1
13-32900433-C-T c.516+14C>T - IntronicSNV - 6/26 2
13-32900473-T-C c.516+54T>C - IntronicSNV - 6/26 2
13-32900547-G-A c.517-89G>A - IntronicSNV - 6/26 1
13-32900617-C-T c.517-19C>T - IntronicSNV - 6/26 1
13-32900632-C-G c.517-4C>G - IntronicSNV - 6/26 2
13-32900634-A-C c.517-2A>C - IntronicSNV - 6/26 1
13-32900634-A-G c.517-2A>G - IntronicSNV - 6/26 1
13-32900636-G-T c.517G>T p.G173C Missense 7/27 - 4
13-32900634-AG-A c.518del p.G173Vfs*12 Frameshift 7/27 - 3
13-32900637-G-T c.518G>T p.G173V Missense 7/27 - 4
13-32900639-C-T c.520C>T p.R174C Missense 7/27 - 8
13-32900639-C-G c.520C>G p.R174G Missense 7/27 - 1
13-32900640-G-A c.521G>A p.R174H Missense 7/27 - 3
13-32900649-C-G c.530C>G p.P177R Missense 7/27 - 1
13-32900652-A-G c.533A>G p.K178R Missense 7/27 - 2
13-32900649-C-CA c.534dup p.H179Tfs*4 Frameshift 7/27 - 1
13-32900655-A-G c.536A>G p.H179R Missense 7/27 - 5
13-32900655-A-T c.536A>T p.H179L Missense 7/27 - 1
13-32900654-CAT-C c.538_539del p.I180Ffs*2 Frameshift 7/27 - 1
13-32900657-A-G c.538A>G p.I180V Missense 7/27 - 1
13-32900658-T-TA c.539_540insA p.S181Ffs*2 Frameshift 7/27 - 1
13-32900658-T-C c.539T>C p.I180T Missense 7/27 - 2
13-32900657-AT-A c.541del p.S181Lfs*4 Frameshift 7/27 - 1
13-32900660-TCT-GAG c.541_543delinsGAG p.S181E Missense 7/27 - 1
13-32900665-A-G c.546A>G p.E182= Synonymous 7/27 - 1
13-32900666-A-G c.547A>G p.S183G Missense 7/27 - 1
13-32900663-GA-G c.547del p.S183Vfs*2 Frameshift 7/27 - 1
13-32900669-CTA-TGG c.550_552delinsTGG p.L184W Missense 7/27 - 3
13-32900669-C-G c.550C>G p.L184V Missense 7/27 - 1
13-32900670-T-C c.551T>C p.L184P Missense 7/27 - 4
13-32900673-G-T c.554G>T p.G185V Missense 7/27 - 1
13-32900673-G-C c.554G>C p.G185A Missense 7/27 - 1
13-32900678-G-T c.559G>T p.E187* Nonsense 7/27 - 1
13-32900678-G-A c.559G>A p.E187K Missense 7/27 - 1
13-32900680-G-T c.561G>T p.E187D Missense 7/27 - 1
13-32900683-G-T c.564G>T p.V188= Synonymous 7/27 - 1
13-32900684-G-A c.565G>A p.D189N Missense 7/27 - 1
13-32900685-A-C c.566A>C p.D189A Missense 7/27 - 1
13-32900685-A-G c.566A>G p.D189G Missense 7/27 - 1
13-32900688-C-T c.569C>T p.P190L Missense 7/27 - 1
13-32900690-G-A c.571G>A p.D191N Missense 7/27 - 1
13-32900691-A-T c.572A>T p.D191V Missense 7/27 - 3
13-32900691-A-G c.572A>G p.D191G Missense 7/27 - 2
13-32900692-T-TA c.574dup p.M192Nfs*14 Frameshift 7/27 - 1
13-32900690-GAT-G c.574_575del p.M192Vfs*13 Frameshift 7/27 - 3
13-32900694-T-C c.575T>C p.M192T Missense 7/27 - 4
13-32900696-T-G c.577T>G p.S193A Missense 7/27 - 4
13-32900696-TCT-GAG c.577_579delinsGAG p.S193E Missense 7/27 - 1
13-32900697-C-G c.578C>G p.S193C Missense 7/27 - 1
13-32900700-G-A c.581G>A p.W194* Nonsense 7/27 - 4
13-32900701-G-A c.582G>A p.W194* Nonsense 7/27 - 13
13-32900703-C-G c.584C>G p.S195* Nonsense 7/27 - 1
13-32900706-G-T c.587G>T p.S196I Missense 7/27 - 5
13-32900706-G-A c.587G>A p.S196N Missense 7/27 - 2
13-32900709-C-T c.590C>T p.S197F Missense 7/27 - 1
13-32900711-TT-AG c.592_593delinsAG p.L198R Missense 7/27 - 1
13-32900711-T-C c.592T>C p.L198= Synonymous 7/27 - 1
13-32900713-A-G c.594A>G p.L198= Synonymous 7/27 - 1
13-32900712-T-C c.593T>C p.L198S Missense 7/27 - 1
13-32900714-G-C c.595G>C p.A199P Missense 7/27 - 1
13-32900715-C-A c.596C>A p.A199D Missense 7/27 - 1
13-32900717-A-G c.598A>G p.T200A Missense 7/27 - 1
13-32900718-C-T c.599C>T p.T200I Missense 7/27 - 7
13-32900718-C-A c.599C>A p.T200K Missense 7/27 - 1
13-32900718-C-CA c.600dup p.P201Tfs*5 Frameshift 7/27 - 1
13-32900720-C-A c.601C>A p.P201T Missense 7/27 - 1
13-32900723-C-G c.604C>G p.P202A Missense 7/27 - 1
13-32900726-AC-TT c.607_608delinsTT p.T203F Missense 7/27 - 1
13-32900726-AC-TA c.607_608delinsTA p.T203Y Missense 7/27 - 1
13-32900727-C-A c.608C>A p.T203N Missense 7/27 - 1
13-32900726-AC-A c.610del p.S205Vfs*6 Frameshift 7/27 - 1
13-32900733-AG-A c.614del p.S205Ifs*6 Frameshift 7/27 - 2
13-32900734-T-G c.615T>G p.S205R Missense 7/27 - 1
13-32900734-T-A c.615T>A p.S205R Missense 7/27 - 1
13-32900732-A-C c.613A>C p.S205R Missense 7/27 - 1
13-32900736-C-G c.617C>G p.S206C Missense 7/27 - 6
13-32900736-C-A c.617C>A p.S206Y Missense 7/27 - 1
13-32900737-T-G c.618T>G p.S206= Synonymous 7/27 - 1
13-32900737-T-C c.618T>C p.S206= Synonymous 7/27 - 1
13-32900737-T-A c.618T>A p.S206= Synonymous 7/27 - 1
13-32900738-A-G c.619A>G p.T207A Missense 7/27 - 7
13-32900738-AC-GA c.619_620delinsGA p.T207D Missense 7/27 - 1
13-32900739-C-T c.620C>T p.T207I Missense 7/27 - 2
13-32900741-G-A c.622G>A p.V208M Missense 7/27 - 1
13-32900742-T-G c.623T>G p.V208G Missense 7/27 - 10
13-32900742-T-C c.623T>C p.V208A Missense 7/27 - 1
13-32900744-C-T c.625C>T p.L209F Missense 7/27 - 1
13-32900745-T-C c.626T>C p.L209P Missense 7/27 - 1
13-32900746-C-A c.627C>A p.L209= Synonymous 7/27 - 1
13-32900747-CATA-C c.628_630del p.I210del InFrameDeletion 7/27 - 1
13-32900750-G-A c.631G>A p.V211I Missense 7/27 - 17
13-32900750-G-C c.631G>C p.V211L Missense 7/27 - 4
13-32900751-G-A c.631+1G>A - IntronicSNV - 7/26 6
13-32900752-T-G c.631+2T>G - IntronicSNV - 7/26 10
13-32900753-A-G c.631+3A>G - IntronicSNV - 7/26 2
13-32900754-A-G c.631+4A>G - IntronicSNV - 7/26 2
13-32900775-C-T c.631+25C>T - IntronicSNV - 7/26 2
13-32900793-G-T c.631+43G>T - IntronicSNV - 7/26 1
13-32900933-T-A c.631+183T>A - IntronicSNV - 7/26 2
13-32903511-T-C c.632-69T>C - IntronicSNV - 7/26 1
13-32903553-C-G c.632-27C>G - IntronicSNV - 7/26 1
13-32903578-A-C c.632-2A>C - IntronicSNV - 7/26 2
13-32903578-A-G c.632-2A>G - IntronicSNV - 7/26 2
13-32903579-G-A c.632-1G>A - IntronicSNV - 7/26 1
13-32903579-G-C c.632-1G>C - IntronicSNV - 7/26 1
13-32903579-G-T c.632-1G>T - IntronicSNV - 7/26 1
13-32903580-T-TC c.633dup p.R212Qfs*3 SpliceAcceptorInsertion 8/27 - 1
13-32903581-C-T c.633C>T p.V211= Synonymous 8/27 - 1
13-32903582-AG-CA c.634_635delinsCA p.R212Q Missense 8/27 - 1
13-32903582-A-T c.634A>T p.R212* Nonsense 8/27 - 1
13-32903581-CAG-C c.635_636del p.R212Kfs*2 Frameshift 8/27 - 2
13-32903589-A-T c.641A>T p.E214V Missense 8/27 - 1
13-32903591-G-A c.643G>A p.E215K Missense 8/27 - 1
13-32903587-TGAA-T c.644_646del p.E215del InFrameDeletion 8/27 - 3
13-32903592-A-G c.644A>G p.E215G Missense 8/27 - 1
13-32903594-AG-A c.646del p.A216Hfs*14 Frameshift 8/27 - 2
13-32903597-TC-CT c.649_650delinsCT p.S217L Missense 8/27 - 2
13-32903600-G-A c.652G>A p.E218K Missense 8/27 - 1
13-32903602-A-G c.654A>G p.E218= Synonymous 8/27 - 1
13-32903604-ACTGTATT-A c.656_662del p.T219Ifs*9 Frameshift 8/27 - 2
13-32903605-CT-C c.657del p.V220Yfs*10 Frameshift 8/27 - 1
13-32903604-CTG-C c.658_659del p.V220Ifs*4 Frameshift 8/27 - 57
13-32903606-G-T c.658G>T p.V220L Missense 8/27 - 2
13-32903606-G-C c.658G>C p.V220L Missense 8/27 - 1
13-32903606-G-A c.658G>A p.V220I Missense 8/27 - 2
13-32903608-ATT-A c.662_663del p.F221Sfs*3 Frameshift 8/27 - 1
13-32903612-C-A c.664C>A p.P222T Missense 8/27 - 1
13-32903615-C-G c.667C>G p.H223D Missense 8/27 - 1
13-32903615-C-CA c.668dup p.H223Qfs*2 Frameshift 8/27 - 1
13-32903617-T-C c.669T>C p.H223= Synonymous 8/27 - 1
13-32903618-G-T c.670G>T p.D224Y Missense 8/27 - 1
13-32903615-CATG-C c.670_672del p.D224del InFrameDeletion 8/27 - 1
13-32903620-AT-A c.672del p.D224Efs*6 Frameshift 8/27 - 1
13-32903621-A-G c.673A>G p.T225A Missense 8/27 - 2
13-32903624-TA-T c.676del p.T226Lfs*4 Frameshift 8/27 - 1
13-32903625-AC-A c.677del p.T226Mfs*4 Frameshift 8/27 - 1
13-32903625-C-T c.677C>T p.T226I Missense 8/27 - 2
13-32903627-G-A c.679G>A p.A227T Missense 8/27 - 1
13-32903629-T-A c.681T>A p.A227= Synonymous 8/27 - 1
13-32903629-T-C c.681T>C p.A227= Synonymous 8/27 - 1
13-32903629-T-G c.681T>G p.A227= Synonymous 8/27 - 1
13-32903630-G-A c.681+1G>A - IntronicSNV - 8/26 2
13-32903685-C-G c.681+56C>G - IntronicSNV - 8/26 9
13-32903685-C-T c.681+56C>T - IntronicSNV - 8/26 17
13-32903724-CTG-C c.681+97_681+98del - IntronicDeletion - 8/26 1
13-32904326-C-T c.681+697C>T - IntronicSNV - 8/26 1
13-32905026-A-C c.682-30A>C - IntronicSNV - 8/26 1
13-32905059-TG-T c.685del p.V229* Frameshift 9/27 - 1
13-32905061-GAA-G c.690_691del p.S231Lfs*6 Frameshift 9/27 - 1
13-32905065-AG-CC c.691_692delinsCC p.S231P Missense 9/27 - 1
13-32905066-G-A c.692G>A p.S231N Missense 9/27 - 1
13-32905069-A-G c.695A>G p.Y232C Missense 9/27 - 2
13-32905068-T-TA c.695dup p.Y232* Nonsense 9/27 - 1
13-32905071-T-G c.697T>G p.F233V Missense 9/27 - 1
13-32905069-ATT-A c.699_700del p.S234Qfs*3 Frameshift 9/27 - 1
13-32905069-AT-A c.700del p.S234Pfs*7 Frameshift 9/27 - 5
13-32905075-C-G c.701C>G p.S234C Missense 9/27 - 1
13-32905078-A-G c.704A>G p.N235S Missense 9/27 - 1
13-32905079-T-C c.705T>C p.N235= Synonymous 9/27 - 1
13-32905084-A-G c.710A>G p.D237G Missense 9/27 - 2
13-32905084-A-C c.710A>C p.D237A Missense 9/27 - 1
13-32905085-T-G c.711T>G p.D237E Missense 9/27 - 1
13-32905086-G-T c.712G>T p.E238* Nonsense 9/27 - 1
13-32905089-A-T c.715A>T p.S239C Missense 9/27 - 1
13-32905091-T-G c.717T>G p.S239R Missense 9/27 - 1
13-32905091-T-A c.717T>A p.S239R Missense 9/27 - 1
13-32905089-A-C c.715A>C p.S239R Missense 9/27 - 1
13-32905091-T-C c.717T>C p.S239= Synonymous 9/27 - 1
13-32905101-A-C c.727A>C p.N243H Missense 9/27 - 2
13-32905101-A-G c.727A>G p.N243D Missense 9/27 - 1
13-32905103-ATGAT-A c.729_732del p.N243Kfs*7 Frameshift 9/27 - 1
13-32905101-AATG-A c.730_732del p.D244del InFrameDeletion 9/27 - 1
13-32905108-G-C c.734G>C p.R245T Missense 9/27 - 1
13-32905108-G-A c.734G>A p.R245K Missense 9/27 - 2
13-32905110-T-G c.736T>G p.F246V Missense 9/27 - 1
13-32905106-TAGATTTATCGCTTCTGTGAC-T c.736_755del p.F246Qfs*2 Frameshift 9/27 - 1
13-32905111-T-G c.737T>G p.F246C Missense 9/27 - 1
13-32905109-AT-A c.738del p.F246Lfs*5 Frameshift 9/27 - 4
13-32905112-T-A c.738T>A p.F246L Missense 9/27 - 1
13-32905112-T-TA c.739dup p.I247Nfs*8 Frameshift 9/27 - 1
13-32905111-TTA-T c.739_740del p.I247Rfs*7 Frameshift 9/27 - 1
13-32905113-A-G c.739A>G p.I247V Missense 9/27 - 1
13-32905115-C-A c.741C>A p.I247= Synonymous 9/27 - 1
13-32905115-C-T c.741C>T p.I247= Synonymous 9/27 - 1
13-32905116-G-A c.742G>A p.A248T Missense 9/27 - 3
13-32905117-C-G c.743C>G p.A248G Missense 9/27 - 1
13-32905122-G-C c.748G>C p.V250L Missense 9/27 - 1
13-32905125-A-G c.751A>G p.T251A Missense 9/27 - 1
13-32905126-C-G c.752C>G p.T251R Missense 9/27 - 2
13-32905126-C-T c.752C>T p.T251I Missense 9/27 - 1
13-32905126-C-CTGTT c.752_753insTGTT p.D252Vfs*4 Frameshift 9/27 - 1
13-32905128-GA-CT c.754_755delinsCT p.D252L Missense 9/27 - 1
13-32905128-G-A c.754G>A p.D252N Missense 9/27 - 1
13-32905123-TGACA-T c.755_758del p.D252Vfs*24 Frameshift 9/27 - 32
13-32905129-GA-G c.755del p.D252Afs*25 Frameshift 9/27 - 2
13-32905129-A-G c.755A>G p.D252G Missense 9/27 - 1
13-32905138-ACACAAATCAAAG-TCAA c.764_776delinsTCAA p.N255_R259delinsIK MultiAAMissense 9/27 - 1
13-32905134-GAAAACAC-G c.764_770del p.N255Ifs*20 Frameshift 9/27 - 1
13-32905136-AAACAC-A c.765_769del p.N255Kfs*19 Frameshift 9/27 - 1
13-32905140-ACAAAT-A c.771_775del p.N257Kfs*17 Frameshift 9/27 - 36
13-32905145-AT-A c.771del p.Q258Kfs*19 Frameshift 9/27 - 1
13-32905146-C-A c.772C>A p.Q258K Missense 9/27 - 1
13-32905146-C-T c.772C>T p.Q258* Nonsense 9/27 - 3
13-32905146-CAA-C c.774_775del p.E260Sfs*15 Frameshift 9/27 - 8
13-32905148-A-AT c.774_775insT p.R259* Nonsense 9/27 - 1
13-32905149-A-T c.775A>T p.R259* Nonsense 9/27 - 3
13-32905151-A-AT c.777_778insT p.E260* Nonsense 9/27 - 1
13-32905148-AAG-A c.778_779del p.E260Sfs*15 Frameshift 9/27 - 2
13-32905153-A-G c.779A>G p.E260G Missense 9/27 - 1
13-32905158-G-A c.784G>A p.A262T Missense 9/27 - 2
13-32905158-TG-T c.784del p.A262Qfs*15 Frameshift 9/27 - 2
13-32905159-C-T c.785C>T p.A262V Missense 9/27 - 1
13-32905161-A-G c.787A>G p.S263G Missense 9/27 - 1
13-32905161-A-T c.787A>T p.S263C Missense 9/27 - 1
13-32905164-CA-TT c.790_791delinsTT p.H264F Missense 9/27 - 1
13-32905168-G-A c.793+1G>A - IntronicSNV - 9/26 2
13-32905166-TG-T c.793+1del - IntronicDeletion - 9/26 1
13-32905201-T-G c.793+34T>G - IntronicSNV - 9/26 1
13-32905219-AT-A c.793+64del - IntronicDeletion - 9/26 1
13-32905265-G-A c.793+98G>A - IntronicSNV - 9/26 1
13-32906405-A-G c.794-4A>G - IntronicSNV - 9/26 1
13-32906409-G-C c.794G>C p.G265A Missense 10/27 - 1
13-32906410-A-T c.795A>T p.G265= Synonymous 10/27 - 1
13-32906410-A-G c.795A>G p.G265= Synonymous 10/27 - 1
13-32906410-A-C c.795A>C p.G265= Synonymous 10/27 - 1
13-32906411-T-C c.796T>C p.F266L Missense 10/27 - 4
13-32906411-TT-GC c.796_797delinsGC p.F266A Missense 10/27 - 2
13-32906413-T-A c.798T>A p.F266L Missense 10/27 - 2
13-32906413-T-G c.798T>G p.F266L Missense 10/27 - 2
13-32906410-ATT-A c.797_798del p.F266Wfs*9 Frameshift 10/27 - 1
13-32906412-T-A c.797T>A p.F266Y Missense 10/27 - 1
13-32906412-T-G c.797T>G p.F266C Missense 10/27 - 2
13-32906413-TTG-T c.798_799del p.F266Lfs*9 Frameshift 10/27 - 1
13-32906414-G-T c.799G>T p.G267* Nonsense 10/27 - 2
13-32906415-G-A c.800G>A p.G267E Missense 10/27 - 2
13-32906413-T-TG c.800dup p.T269Nfs*7 Frameshift 10/27 - 1
13-32906418-A-G c.803A>G p.K268R Missense 10/27 - 1
13-32906415-G-GA c.805dup p.T269Nfs*7 Frameshift 10/27 - 2
13-32906420-A-T c.805A>T p.T269S Missense 10/27 - 1
13-32906421-CA-AC c.806_807delinsAC p.T269N Missense 10/27 - 1
13-32906421-C-T c.806C>T p.T269I Missense 10/27 - 1
13-32906424-C-G c.809C>G p.S270* Nonsense 10/27 - 3
13-32906424-TC-T c.809del p.S270* Frameshift 10/27 - 1
13-32906425-CAG-C c.810_811del p.G271Efs*4 Frameshift 10/27 - 1
13-32906426-G-A c.811G>A p.G271R Missense 10/27 - 3
13-32906429-A-C c.814A>C p.N272H Missense 10/27 - 1
13-32906430-A-T c.815A>T p.N272I Missense 10/27 - 1
13-32906433-C-T c.818C>T p.S273L Missense 10/27 - 2
13-32906438-AA-GC c.823_824delinsGC p.K275A Missense 10/27 - 1
13-32906444-A-C c.829A>C p.N277H Missense 10/27 - 1
13-32906446-T-G c.831T>G p.N277K Missense 10/27 - 7
13-32906446-T-A c.831T>A p.N277K Missense 10/27 - 1
13-32906446-T-C c.831T>C p.N277= Synonymous 10/27 - 1
13-32906447-A-G c.832A>G p.S278G Missense 10/27 - 2
13-32906448-G-A c.833G>A p.S278N Missense 10/27 - 2
13-32906450-TG-GC c.835_836delinsGC p.C279A Missense 10/27 - 3
13-32906452-C-T c.837C>T p.C279= Synonymous 10/27 - 1
13-32906456-G-T c.841G>T p.D281Y Missense 10/27 - 3
13-32906456-G-A c.841G>A p.D281N Missense 10/27 - 3
13-32906456-G-C c.841G>C p.D281H Missense 10/27 - 1
13-32906457-A-G c.842A>G p.D281G Missense 10/27 - 1
13-32906458-ACCAC-A c.843_846del p.D281Efs*10 Frameshift 10/27 - 1
13-32906459-C-T c.844C>T p.H282Y Missense 10/27 - 3
13-32906460-A-ATTTGG c.845_846insTTTGG p.I283Lfs*11 Frameshift 10/27 - 1
13-32906458-CCA-C c.846_847del p.I283Wfs*11 Frameshift 10/27 - 1
13-32906462-A-G c.847A>G p.I283V Missense 10/27 - 1
13-32906462-A-AT c.849dup p.G284Wfs*11 Frameshift 10/27 - 1
13-32906466-G-A c.851G>A p.G284E Missense 10/27 - 1
13-32906471-T-G c.856T>G p.S286A Missense 10/27 - 3
13-32906471-T-C c.856T>C p.S286P Missense 10/27 - 2
13-32906472-C-G c.857C>G p.S286* Nonsense 10/27 - 3
13-32906474-A-G c.859A>G p.M287V Missense 10/27 - 2
13-32906474-A-T c.859A>T p.M287L Missense 10/27 - 1
13-32906475-T-C c.860T>C p.M287T Missense 10/27 - 1
13-32906477-C-T c.862C>T p.P288S Missense 10/27 - 1
13-32906478-C-A c.863C>A p.P288Q Missense 10/27 - 1
13-32906478-CCA-C c.863_864del p.P288Qfs*6 Frameshift 10/27 - 1
13-32906479-A-AC c.864_865insC p.N289Qfs*6 Frameshift 10/27 - 1
13-32906480-A-C c.865A>C p.N289H Missense 10/27 - 76
13-32906480-A-G c.865A>G p.N289D Missense 10/27 - 15
13-32906483-G-T c.868G>T p.V290F Missense 10/27 - 1
13-32906483-GTC-ATG c.868_870delinsATG p.V290M Missense 10/27 - 1
13-32906487-T-G c.872T>G p.L291R Missense 10/27 - 1
13-32906490-A-C c.875A>C p.E292A Missense 10/27 - 1
13-32906494-T-C c.879T>C p.D293= Synonymous 10/27 - 1
13-32906495-G-T c.880G>T p.E294* Nonsense 10/27 - 3
13-32906501-T-C c.886T>C p.Y296H Missense 10/27 - 1
13-32906502-A-G c.887A>G p.Y296C Missense 10/27 - 1
13-32906505-AAACAGTTGT-AGATACTTCAG c.891_899delinsGATACTTCAG p.T298Ifs*7 Frameshift 10/27 - 1
13-32906507-A-ATACTT c.892_893insTACTT p.T298Ifs*5 Frameshift 10/27 - 1
13-32906520-C-G c.905C>G p.T302S Missense 10/27 - 1
13-32906520-C-CA c.905_906insA p.S303Lfs*2 Frameshift 10/27 - 1
13-32906528-G-A c.913G>A p.E305K Missense 10/27 - 1
13-32906529-GAA-G c.914_915del p.E305Gfs*2 Frameshift 10/27 - 1
13-32906531-G-A c.916G>A p.D306N Missense 10/27 - 1
13-32906532-A-T c.917A>T p.D306V Missense 10/27 - 1
13-32906529-AAGAT-A c.917_920del p.D306Vfs*17 Frameshift 10/27 - 1
13-32906532-A-C c.917A>C p.D306A Missense 10/27 - 2
13-32906531-G-GA c.917dup p.D306Efs*2 Frameshift 10/27 - 1
13-32906537-T-C c.922T>C p.F308L Missense 10/27 - 2
13-32906539-T-A c.924T>A p.F308L Missense 10/27 - 1
13-32906539-T-G c.924T>G p.F308L Missense 10/27 - 1
13-32906535-G-GT c.925dup p.S309Ffs*6 Frameshift 10/27 - 1
13-32906535-GT-G c.925del p.S309Hfs*15 Frameshift 10/27 - 1
13-32906542-CA-C c.927del p.L310Yfs*14 Frameshift 10/27 - 1
13-32906542-A-G c.927A>G p.S309= Synonymous 10/27 - 2
13-32906544-T-C c.929T>C p.L310S Missense 10/27 - 1
13-32906544-T-TA c.930dup p.C311Mfs*4 Frameshift 10/27 - 1
13-32906546-T-A c.931T>A p.C311S Missense 10/27 - 1
13-32906547-G-C c.932G>C p.C311S Missense 10/27 - 1
13-32906546-TG-AC c.931_932delinsAC p.C311T Missense 10/27 - 1
13-32906547-G-GC c.932_933insC p.S313Ffs*2 Frameshift 10/27 - 1
13-32906547-G-GT c.937dup p.S313Ffs*2 Frameshift 10/27 - 3
13-32906547-GT-G c.937del p.S313Lfs*11 Frameshift 10/27 - 1
13-32906552-TC-GG c.937_938delinsGG p.S313G Missense 10/27 - 1
13-32906554-T-G c.939T>G p.S313= Synonymous 10/27 - 1
13-32906558-T-A c.943T>A p.C315S Missense 10/27 - 22
13-32906558-TG-GC c.943_944delinsGC p.C315A Missense 10/27 - 1
13-32906559-G-C c.944G>C p.C315S Missense 10/27 - 3
13-32906559-G-A c.944G>A p.C315Y Missense 10/27 - 1
13-32906561-A-G c.946A>G p.R316G Missense 10/27 - 1
13-32906566-A-G c.951A>G p.T317= Synonymous 10/27 - 1
13-32906567-AA-GC c.952_953delinsGC p.K318A Missense 10/27 - 1
13-32906569-A-AT c.954_955insT p.N319* Nonsense 10/27 - 1
13-32906570-A-G c.955A>G p.N319D Missense 10/27 - 1
13-32906565-C-CA c.956dup p.N319Kfs*8 Frameshift 10/27 - 14
13-32906571-A-C c.956A>C p.N319T Missense 10/27 - 7
13-32906571-A-G c.956A>G p.N319S Missense 10/27 - 1
13-32906565-CA-C c.956del p.N319Ifs*5 Frameshift 10/27 - 1
13-32906572-T-G c.957T>G p.N319K Missense 10/27 - 1
13-32906572-T-A c.957T>A p.N319K Missense 10/27 - 1
13-32906573-C-T c.958C>T p.L320= Synonymous 10/27 - 1
13-32906573-TC-T c.958del p.L320Yfs*4 Frameshift 10/27 - 1
13-32906576-C-T c.961C>T p.Q321* Nonsense 10/27 - 5
13-32906576-CA-TC c.961_962delinsTC p.Q321S Missense 10/27 - 1
13-32906577-A-G c.962A>G p.Q321R Missense 10/27 - 1
13-32906578-A-C c.963A>C p.Q321H Missense 10/27 - 1
13-32906579-A-C c.964A>C p.K322Q Missense 10/27 - 14
13-32906576-C-CA c.966dup p.V323Sfs*4 Frameshift 10/27 - 1
13-32906584-A-AC c.969_970insC p.R324Qfs*3 Frameshift 10/27 - 1
13-32906584-A-C c.969A>C p.V323= Synonymous 10/27 - 1
13-32906584-A-G c.969A>G p.V323= Synonymous 10/27 - 1
13-32906584-A-T c.969A>T p.V323= Synonymous 10/27 - 1
13-32906585-AG-CT c.970_971inv p.R324L Missense 10/27 - 1
13-32906586-G-C c.971G>C p.R324T Missense 10/27 - 4
13-32906591-AG-GC c.976_977delinsGC p.S326A Missense 10/27 - 1
13-32906590-T-TA c.976dup p.S326Kfs*4 Frameshift 10/27 - 1
13-32906593-C-G c.978C>G p.S326R Missense 10/27 - 5
13-32906593-C-A c.978C>A p.S326R Missense 10/27 - 14
13-32906591-A-C c.976A>C p.S326R Missense 10/27 - 3
13-32906593-C-T c.978C>T p.S326= Synonymous 10/27 - 1
13-32906594-A-G c.979A>G p.K327E Missense 10/27 - 1
13-32906594-AAG-A c.981_982del p.K327Nfs*2 Frameshift 10/27 - 1
13-32906598-ACTAG-A c.983_986del p.T328Rfs*20 Frameshift 10/27 - 1
13-32906600-AGG-TGT c.985_987delinsTGT p.R329C Missense 10/27 - 1
13-32906602-G-A c.987G>A p.R329= Synonymous 10/27 - 1
13-32906600-A-C c.985A>C p.R329= Synonymous 10/27 - 1
13-32906607-A-G c.992A>G p.K331R Missense 10/27 - 1
13-32906602-GA-G c.994del p.I332Ffs*17 Frameshift 10/27 - 9
13-32906602-G-GA c.994dup p.I332Nfs*4 Frameshift 10/27 - 5
13-32906609-A-T c.994A>T p.I332F Missense 10/27 - 2
13-32906610-T-A c.995T>A p.I332N Missense 10/27 - 1
13-32906611-T-G c.996T>G p.I332M Missense 10/27 - 3
13-32906609-AT-A c.998del p.F333Sfs*16 Frameshift 10/27 - 1
13-32906615-C-T c.1000C>T p.H334Y Missense 10/27 - 3
13-32906615-C-G c.1000C>G p.H334D Missense 10/27 - 1
13-32906613-TC-T c.1000del p.H334Mfs*15 Frameshift 10/27 - 2
13-32906617-AT-A c.1002del p.H334Qfs*15 Frameshift 10/27 - 1
13-32906618-G-T c.1003G>T p.E335* Nonsense 10/27 - 1
13-32906621-G-A c.1006G>A p.A336T Missense 10/27 - 1
13-32906625-A-ATG c.1010_1011insTG p.D339Lfs*11 Frameshift 10/27 - 2
13-32906626-C-T c.1011C>T p.N337= Synonymous 10/27 - 1
13-32906627-G-A c.1012G>A p.A338T Missense 10/27 - 2
13-32906628-GC-G c.1013del p.A338Vfs*11 Frameshift 10/27 - 1
13-32906631-GA-G c.1016del p.D339Vfs*10 Frameshift 10/27 - 4
13-32906630-G-GA c.1016dup p.D339Efs*2 Frameshift 10/27 - 5
13-32906632-T-C c.1017T>C p.D339= Synonymous 10/27 - 1
13-32906633-G-T c.1018G>T p.E340* Nonsense 10/27 - 3
13-32906636-TG-GC c.1021_1022delinsGC p.C341A Missense 10/27 - 1
13-32906636-T-A c.1021T>A p.C341S Missense 10/27 - 2
13-32906637-G-C c.1022G>C p.C341S Missense 10/27 - 2
13-32906637-G-T c.1022G>T p.C341F Missense 10/27 - 1
13-32906638-T-A c.1023T>A p.C341* Nonsense 10/27 - 1
13-32906639-G-T c.1024G>T p.E342* Nonsense 10/27 - 2
13-32906639-G-A c.1024G>A p.E342K Missense 10/27 - 1
13-32906642-A-T c.1027A>T p.K343* Nonsense 10/27 - 1
13-32906639-GA-G c.1029del p.K343Nfs*6 Frameshift 10/27 - 1
13-32906639-G-GA c.1029dup p.S344Ifs*2 Frameshift 10/27 - 1
13-32906645-T-A c.1030T>A p.S344T Missense 10/27 - 1
13-32906646-C-G c.1031C>G p.S344C Missense 10/27 - 1
13-32906650-A-AT c.1035_1036insT p.N346* Nonsense 10/27 - 2
13-32906647-TAA-T c.1036_1037del p.N346Pfs*11 Frameshift 10/27 - 1
13-32906652-A-C c.1037A>C p.N346T Missense 10/27 - 1
13-32906654-C-T c.1039C>T p.Q347* Nonsense 10/27 - 3
13-32906655-A-C c.1040A>C p.Q347P Missense 10/27 - 1
13-32906655-A-G c.1040A>G p.Q347R Missense 10/27 - 2
13-32906654-C-CA c.1041dup p.V348Sfs*10 Frameshift 10/27 - 1
13-32906657-G-A c.1042G>A p.V348M Missense 10/27 - 1
13-32906658-T-A c.1043T>A p.V348E Missense 10/27 - 1
13-32906663-GA-G c.1053del p.K351Nfs*16 Frameshift 10/27 - 1
13-32906668-A-AT c.1054dup p.Y352Lfs*6 Frameshift 10/27 - 1
13-32906670-TA-T c.1055del p.Y352Sfs*15 Frameshift 10/27 - 1
13-32906673-C-T c.1058C>T p.S353L Missense 10/27 - 3
13-32906673-C-A c.1058C>A p.S353* Nonsense 10/27 - 1
13-32906675-T-C c.1060T>C p.F354L Missense 10/27 - 1
13-32906677-T-A c.1062T>A p.F354L Missense 10/27 - 1
13-32906677-T-G c.1062T>G p.F354L Missense 10/27 - 1
13-32906676-T-C c.1061T>C p.F354S Missense 10/27 - 1
13-32906684-G-T c.1069G>T p.E357* Nonsense 10/27 - 1
13-32906685-A-C c.1070A>C p.E357A Missense 10/27 - 1
13-32906688-T-C c.1073T>C p.V358A Missense 10/27 - 1
13-32906691-A-G c.1076A>G p.E359G Missense 10/27 - 1
13-32906697-AATGATACTGAT-A c.1082_1092del p.N361Tfs*13 Frameshift 10/27 - 1
13-32906699-G-GAC c.1085_1086insCA p.T363Ifs*5 Frameshift 10/27 - 1
13-32906701-ATACTGATCCATTAGATTCAAATGTAGCAAATCAGAAGCCCTTTGAGAGTGGAAGTG-A c.1086_1141del p.D362Efs*14 Frameshift 10/27 - 1
13-32906705-G-A c.1090G>A p.D364N Missense 10/27 - 1
13-32906708-C-G c.1093C>G p.P365A Missense 10/27 - 1
13-32906708-C-T c.1093C>T p.P365S Missense 10/27 - 1
13-32906709-C-T c.1094C>T p.P365L Missense 10/27 - 1
13-32906711-T-G c.1096T>G p.L366V Missense 10/27 - 2
13-32906711-T-C c.1096T>C p.L366= Synonymous 10/27 - 1
13-32906713-A-G c.1098A>G p.L366= Synonymous 10/27 - 1
13-32906710-A-AT c.1097dup p.L366Ffs*12 Frameshift 10/27 - 1
13-32906712-T-A c.1097T>A p.L366* Nonsense 10/27 - 2
13-32906712-T-G c.1097T>G p.L366* Nonsense 10/27 - 2
13-32906715-GA-G c.1100del p.D367Vfs*4 Frameshift 10/27 - 1
13-32906717-T-A c.1102T>A p.S368T Missense 10/27 - 1
13-32906718-C-A c.1103C>A p.S368* Nonsense 10/27 - 1
13-32906718-C-G c.1103C>G p.S368* Nonsense 10/27 - 3
13-32906721-A-AG c.1106_1107insG p.N369Kfs*9 Frameshift 10/27 - 1
13-32906722-T-C c.1107T>C p.N369= Synonymous 10/27 - 1
13-32906724-T-C c.1109T>C p.V370A Missense 10/27 - 1
13-32906726-G-A c.1111G>A p.A371T Missense 10/27 - 2
13-32906729-A-C c.1114A>C p.N372H Missense 10/27 - 182
13-32906731-T-C c.1116T>C p.N372= Synonymous 10/27 - 1
13-32906733-A-C c.1118A>C p.Q373P Missense 10/27 - 1
13-32906733-A-G c.1118A>G p.Q373R Missense 10/27 - 2
13-32906734-GA-G c.1121del p.K374Sfs*25 Frameshift 10/27 - 1
13-32906738-C-T c.1123C>T p.P375S Missense 10/27 - 4
13-32906737-GC-G c.1125del p.F376Lfs*23 Frameshift 10/27 - 1
13-32906742-T-G c.1127T>G p.F376C Missense 10/27 - 1
13-32906740-CT-C c.1128del p.F376Lfs*23 Frameshift 10/27 - 2
13-32906744-G-GA c.1130dup p.S378Efs*4 Frameshift 10/27 - 1
13-32906746-G-C c.1131G>C p.E377D Missense 10/27 - 1
13-32906751-G-C c.1136G>C p.G379A Missense 10/27 - 1
13-32906752-A-T c.1137A>T p.G379= Synonymous 10/27 - 1
13-32906752-A-G c.1137A>G p.G379= Synonymous 10/27 - 1
13-32906752-A-C c.1137A>C p.G379= Synonymous 10/27 - 1
13-32906751-GA-G c.1138del p.S380Vfs*19 Frameshift 10/27 - 5
13-32906755-T-C c.1140T>C p.S380= Synonymous 10/27 - 1
13-32906756-G-C c.1141G>C p.D381H Missense 10/27 - 1
13-32906757-A-C c.1142A>C p.D381A Missense 10/27 - 1
13-32906757-A-G c.1142A>G p.D381G Missense 10/27 - 1
13-32906761-A-C c.1146A>C p.K382N Missense 10/27 - 1
13-32906761-A-T c.1146A>T p.K382N Missense 10/27 - 1
13-32906758-CA-C c.1147del p.I383Sfs*16 Frameshift 10/27 - 1
13-32906758-C-CA c.1147dup p.I383Nfs*12 Frameshift 10/27 - 1
13-32906765-T-C c.1150T>C p.S384P Missense 10/27 - 1
13-32906766-C-T c.1151C>T p.S384F Missense 10/27 - 21
13-32906766-C-G c.1151C>G p.S384C Missense 10/27 - 1
13-32906772-A-G c.1157A>G p.E386G Missense 10/27 - 1
13-32906781-C-G c.1166C>G p.P389R Missense 10/27 - 1
13-32906781-C-T c.1166C>T p.P389L Missense 10/27 - 3
13-32906781-C-A c.1166C>A p.P389Q Missense 10/27 - 1
13-32906782-G-C c.1167G>C p.P389= Synonymous 10/27 - 1
13-32906782-G-A c.1167G>A p.P389= Synonymous 10/27 - 1
13-32906783-T-C c.1168T>C p.S390P Missense 10/27 - 1
13-32906790-C-T c.1175C>T p.A392V Missense 10/27 - 1
13-32906791-C-A c.1176C>A p.A392= Synonymous 10/27 - 1
13-32906791-C-G c.1176C>G p.A392= Synonymous 10/27 - 1
13-32906791-C-T c.1176C>T p.A392= Synonymous 10/27 - 1
13-32906792-T-A c.1177T>A p.C393S Missense 10/27 - 1
13-32906793-G-C c.1178G>C p.C393S Missense 10/27 - 1
13-32906793-G-A c.1178G>A p.C393Y Missense 10/27 - 2
13-32906793-G-GT c.1179dup p.E394* Nonsense 10/27 - 1
13-32906795-G-T c.1180G>T p.E394* Nonsense 10/27 - 2
13-32906796-A-C c.1181A>C p.E394A Missense 10/27 - 6
13-32906798-T-A c.1183T>A p.W395R Missense 10/27 - 1
13-32906798-T-C c.1183T>C p.W395R Missense 10/27 - 1
13-32906798-T-G c.1183T>G p.W395G Missense 10/27 - 1
13-32906799-G-A c.1184G>A p.W395* Nonsense 10/27 - 1
13-32906800-G-A c.1185G>A p.W395* Nonsense 10/27 - 1
13-32906804-C-CTTAG c.1189_1190insTTAG p.Q397Lfs*25 Frameshift 10/27 - 6
13-32906804-C-CTTAT c.1189_1190insTTAT p.Q397Lfs*25 Frameshift 10/27 - 2
13-32906804-C-T c.1189C>T p.Q397* Nonsense 10/27 - 1
13-32906805-A-G c.1190A>G p.Q397R Missense 10/27 - 1
13-32906806-A-C c.1191A>C p.Q397H Missense 10/27 - 1
13-32906807-CTA-ATG c.1192_1194delinsATG p.L398M Missense 10/27 - 1
13-32906808-T-C c.1193T>C p.L398P Missense 10/27 - 2
13-32906808-T-G c.1193T>G p.L398R Missense 10/27 - 1
13-32906810-A-G c.1195A>G p.T399A Missense 10/27 - 1
13-32906813-C-T c.1198C>T p.L400F Missense 10/27 - 1
13-32906817-C-G c.1202C>G p.S401* Nonsense 10/27 - 1
13-32906820-G-A c.1205G>A p.G402D Missense 10/27 - 2
13-32906818-AG-A c.1205del p.G402Vfs*2 Frameshift 10/27 - 1
13-32906822-TCTA-T c.1207_1209del p.L403del InFrameDeletion 10/27 - 1
13-32906824-A-T c.1209A>T p.L403= Synonymous 10/27 - 1
13-32906824-A-G c.1209A>G p.L403= Synonymous 10/27 - 1
13-32906824-A-C c.1209A>C p.L403= Synonymous 10/27 - 1
13-32906822-C-T c.1207C>T p.L403= Synonymous 10/27 - 1
13-32906826-A-G c.1211A>G p.N404S Missense 10/27 - 1
13-32906827-T-C c.1212T>C p.N404= Synonymous 10/27 - 1
13-32906828-G-A c.1213G>A p.G405R Missense 10/27 - 1
13-32906828-G-C c.1213G>C p.G405R Missense 10/27 - 1
13-32906831-G-A c.1216G>A p.A406T Missense 10/27 - 1
13-32906832-C-A c.1217C>A p.A406D Missense 10/27 - 1
13-32906834-C-T c.1219C>T p.Q407* Nonsense 10/27 - 2
13-32906834-C-G c.1219C>G p.Q407E Missense 10/27 - 2
13-32906834-CCAG-C c.1219_1221del p.Q407del InFrameDeletion 10/27 - 1
13-32906831-GC-G c.1219del p.Q407Rfs*23 Frameshift 10/27 - 1
13-32906837-GA-G c.1222del p.M408Wfs*22 Frameshift 10/27 - 1
13-32906839-G-A c.1224G>A p.M408I Missense 10/27 - 1
13-32906841-A-C c.1226A>C p.E409A Missense 10/27 - 1
13-32906843-A-G c.1228A>G p.K410E Missense 10/27 - 1
13-32906842-GA-G c.1231del p.I411Yfs*19 Frameshift 10/27 - 4
13-32906847-T-C c.1232T>C p.I411T Missense 10/27 - 1
13-32906847-T-TA c.1233dup p.P412Tfs*9 Frameshift 10/27 - 2
13-32906849-C-A c.1234C>A p.P412T Missense 10/27 - 1
13-32906849-C-T c.1234C>T p.P412S Missense 10/27 - 1
13-32906851-C-T c.1236C>T p.P412= Synonymous 10/27 - 1
13-32906853-CT-C c.1238del p.L413Hfs*17 Frameshift 10/27 - 10
13-32906853-TA-AT c.1238_1239delinsAT p.L413H Missense 10/27 - 1
13-32906855-T-C c.1240T>C p.L414= Synonymous 10/27 - 1
13-32906858-C-A c.1243C>A p.H415N Missense 10/27 - 1
13-32906859-A-G c.1244A>G p.H415R Missense 10/27 - 3
13-32906859-CA-C c.1244del p.H415Lfs*15 Frameshift 10/27 - 1
13-32906857-GCATATTTCTTCATGTGAC-G c.1245_1262del p.H415_D420del InFrameDeletion 10/27 - 1
13-32906861-A-G c.1246A>G p.I416V Missense 10/27 - 1
13-32906861-TA-T c.1246del p.I416Ffs*14 Frameshift 10/27 - 1
13-32906862-T-G c.1247T>G p.I416S Missense 10/27 - 2
13-32906862-T-A c.1247T>A p.I416N Missense 10/27 - 1
13-32906864-T-C c.1249T>C p.S417P Missense 10/27 - 1
13-32906865-C-A c.1250C>A p.S417Y Missense 10/27 - 1
13-32906867-T-C c.1252T>C p.S418P Missense 10/27 - 1
13-32906868-CA-GT c.1253_1254delinsGT p.S418C Missense 10/27 - 1
13-32906868-C-G c.1253C>G p.S418* Nonsense 10/27 - 1
13-32906868-C-T c.1253C>T p.S418L Missense 10/27 - 1
13-32906870-T-A c.1255T>A p.C419S Missense 10/27 - 1
13-32906871-G-C c.1256G>C p.C419S Missense 10/27 - 1
13-32906870-TG-GC c.1255_1256delinsGC p.C419A Missense 10/27 - 1
13-32906870-T-C c.1255T>C p.C419R Missense 10/27 - 1
13-32906872-GT-G c.1257del p.C419Wfs*11 Frameshift 10/27 - 2
13-32906873-G-A c.1258G>A p.D420N Missense 10/27 - 2
13-32906874-A-G c.1259A>G p.D420G Missense 10/27 - 2
13-32906876-C-T c.1261C>T p.Q421* Nonsense 10/27 - 6
13-32906876-C-A c.1261C>A p.Q421K Missense 10/27 - 1
13-32906878-A-G c.1263A>G p.Q421= Synonymous 10/27 - 1
13-32906876-CA-C c.1265del p.N422Ifs*8 Frameshift 10/27 - 3
13-32906880-A-G c.1265A>G p.N422S Missense 10/27 - 1
13-32906886-C-T c.1271C>T p.S424L Missense 10/27 - 1
13-32906890-A-G c.1275A>G p.E425= Synonymous 10/27 - 5
13-32906892-A-C c.1277A>C p.K426T Missense 10/27 - 1
13-32906893-A-AT c.1278_1279insT p.D427* Nonsense 10/27 - 2
13-32906888-GA-G c.1278del p.D427Tfs*3 Frameshift 10/27 - 8
13-32906901-T-G c.1286T>G p.L429* Nonsense 10/27 - 2
13-32906903-G-A c.1288G>A p.D430N Missense 10/27 - 1
13-32906903-G-C c.1288G>C p.D430H Missense 10/27 - 1
13-32906906-A-C c.1291A>C p.T431P Missense 10/27 - 1
13-32906906-A-AT c.1291_1292insT p.T431Ifs*21 Frameshift 10/27 - 1
13-32906906-A-G c.1291A>G p.T431A Missense 10/27 - 1
13-32906907-C-T c.1292C>T p.T431I Missense 10/27 - 1
13-32906908-CA-C c.1293del p.E432Rfs*28 Frameshift 10/27 - 1
13-32906909-G-T c.1294G>T p.E432* Nonsense 10/27 - 1
13-32906909-G-C c.1294G>C p.E432Q Missense 10/27 - 1
13-32906907-CAG-C c.1296_1297del p.N433Qfs*18 Frameshift 10/27 - 4
13-32906911-G-GA c.1298dup p.N433Kfs*19 Frameshift 10/27 - 5
13-32906915-CAAAA-C c.1300_1303del p.K434Efs*25 Frameshift 10/27 - 2
13-32906914-C-CA c.1303dup p.R435Kfs*17 Frameshift 10/27 - 1
13-32906919-G-T c.1304G>T p.R435I Missense 10/27 - 1
13-32906919-G-A c.1304G>A p.R435K Missense 10/27 - 1
13-32906921-A-G c.1306A>G p.K436E Missense 10/27 - 1
13-32906915-AAAAGAAAG-A c.1306_1313del p.K436Ffs*13 Frameshift 10/27 - 1
13-32906921-AAG-TTT c.1306_1308delinsTTT p.K436F Missense 10/27 - 1
13-32906924-AAA-TGG c.1309_1311delinsTGG p.K437W Missense 10/27 - 1
13-32906924-A-G c.1309A>G p.K437E Missense 10/27 - 1
13-32906915-AAAAG-A c.1310_1313del p.K437Ifs*22 Frameshift 10/27 - 48
13-32906925-A-T c.1310A>T p.K437I Missense 10/27 - 1
13-32906926-A-AT c.1311_1312insT p.D438* Nonsense 10/27 - 1
13-32906923-GA-G c.1311del p.D438Ifs*22 Frameshift 10/27 - 3
13-32906926-AAGAT-A c.1311_1314del p.K437Nfs*22 Frameshift 10/27 - 2
13-32906927-G-T c.1312G>T p.D438Y Missense 10/27 - 3
13-32906928-ATT-A c.1316_1317del p.F439Sfs*12 Frameshift 10/27 - 1
13-32906928-AT-A c.1317del p.T441Lfs*19 Frameshift 10/27 - 1
13-32906933-TC-T c.1318del p.T441Lfs*19 Frameshift 10/27 - 1
13-32906933-CTTACT-C c.1320_1324del p.T441Rfs*9 Frameshift 10/27 - 1
13-32906932-TCTTA-T c.1321_1324del p.T441Qfs*18 Frameshift 10/27 - 1
13-32906937-C-T c.1322C>T p.T441I Missense 10/27 - 1
13-32906939-T-G c.1324T>G p.S442A Missense 10/27 - 1
13-32906940-CA-TT c.1325_1326delinsTT p.S442F Missense 10/27 - 1
13-32906940-C-T c.1325C>T p.S442L Missense 10/27 - 1
13-32906949-C-A c.1334C>A p.S445Y Missense 10/27 - 2
13-32906952-T-A c.1337T>A p.L446* Nonsense 10/27 - 2
13-32906953-TG-T c.1338del p.L446Ffs*14 Frameshift 10/27 - 1
13-32906954-C-T c.1339C>T p.P447S Missense 10/27 - 2
13-32906956-A-C c.1341A>C p.P447= Synonymous 10/27 - 1
13-32906954-CCA-C c.1341_1342del p.R448Yfs*3 Frameshift 10/27 - 1
13-32906957-C-T c.1342C>T p.R448C Missense 10/27 - 3
13-32906957-C-A c.1342C>A p.R448S Missense 10/27 - 1
13-32906958-G-A c.1343G>A p.R448H Missense 10/27 - 4
13-32906966-A-T c.1351A>T p.S451C Missense 10/27 - 1
13-32906966-AGC-TGA c.1351_1353delinsTGA p.S451* Nonsense 10/27 - 1
13-32906967-G-A c.1352G>A p.S451N Missense 10/27 - 1
13-32906968-C-T c.1353C>T p.S451= Synonymous 10/27 - 1
13-32906969-C-G c.1354C>G p.L452V Missense 10/27 - 1
13-32906969-C-A c.1354C>A p.L452I Missense 10/27 - 2
13-32906970-T-A c.1355T>A p.L452Q Missense 10/27 - 1
13-32906970-T-G c.1355T>G p.L452R Missense 10/27 - 1
13-32906970-CTACCAAAATCAGAGAAGCCATTAAAT-C c.1355_1380del p.L452Rfs*7 Frameshift 10/27 - 1
13-32906970-T-C c.1355T>C p.L452P Missense 10/27 - 1
13-32906975-AA-GC c.1360_1361delinsGC p.K454A Missense 10/27 - 1
13-32906973-CAA-C c.1361_1362del p.K454Ifs*7 Frameshift 10/27 - 2
13-32906977-A-G c.1362A>G p.K454= Synonymous 10/27 - 4
13-32906973-CA-C c.1362del p.K454Nfs*6 Frameshift 10/27 - 2
13-32906980-A-G c.1365A>G p.S455= Synonymous 10/27 - 29
13-32906980-A-T c.1365A>T p.S455= Synonymous 10/27 - 3
13-32906980-A-C c.1365A>C p.S455= Synonymous 10/27 - 3
13-32906979-CAG-C c.1368_1369del p.K457Afs*4 Frameshift 10/27 - 5
13-32906983-G-C c.1368G>C p.E456D Missense 10/27 - 1
13-32906983-G-T c.1368G>T p.E456D Missense 10/27 - 1
13-32906985-A-C c.1370A>C p.K457T Missense 10/27 - 1
13-32906988-C-T c.1373C>T p.P458L Missense 10/27 - 1
13-32906990-T-A c.1375T>A p.L459I Missense 10/27 - 1
13-32906991-T-C c.1376T>C p.L459S Missense 10/27 - 2
13-32906994-A-C c.1379A>C p.N460T Missense 10/27 - 1
13-32906994-A-G c.1379A>G p.N460S Missense 10/27 - 1
13-32906996-G-T c.1381G>T p.E461* Nonsense 10/27 - 1
13-32906999-G-T c.1384G>T p.E462* Nonsense 10/27 - 2
13-32907000-A-G c.1385A>G p.E462G Missense 10/27 - 16
13-32907000-A-T c.1385A>T p.E462V Missense 10/27 - 3
13-32906999-GA-G c.1387del p.T463Qfs*3 Frameshift 10/27 - 1
13-32907004-CAG-C c.1389_1390del p.V464Gfs*3 Frameshift 10/27 - 7
13-32907005-G-T c.1390G>T p.V464L Missense 10/27 - 1
13-32907004-A-AG c.1390dup p.V464Gfs*4 Frameshift 10/27 - 1
13-32907006-T-C c.1391T>C p.V464A Missense 10/27 - 1
13-32907009-T-C c.1394T>C p.V465A Missense 10/27 - 1
13-32907009-T-G c.1394T>G p.V465G Missense 10/27 - 1
13-32907010-A-C c.1395A>C p.V465= Synonymous 10/27 - 6
13-32907010-A-G c.1395A>G p.V465= Synonymous 10/27 - 2
13-32907010-A-T c.1395A>T p.V465= Synonymous 10/27 - 2
13-32907014-A-T c.1399A>T p.K467* Nonsense 10/27 - 30
13-32907014-TAAGA-T c.1399_1402del p.K467Efs*17 Frameshift 10/27 - 1
13-32907017-AG-GC c.1402_1403delinsGC p.R468A Missense 10/27 - 1
13-32907017-A-G c.1402A>G p.R468G Missense 10/27 - 1
13-32907014-AAG-A c.1405_1406del p.D469* Frameshift 10/27 - 3
13-32907023-G-C c.1408G>C p.E470Q Missense 10/27 - 1
13-32907023-G-T c.1408G>T p.E470* Nonsense 10/27 - 1
13-32907026-G-C c.1411G>C p.E471Q Missense 10/27 - 1
13-32907028-G-C c.1413G>C p.E471D Missense 10/27 - 1
13-32907028-G-T c.1413G>T p.E471D Missense 10/27 - 1
13-32907029-C-T c.1414C>T p.Q472* Nonsense 10/27 - 2
13-32907031-AGCATC-A c.1416_1420del p.Q472Hfs*2 Frameshift 10/27 - 1
13-32907034-T-C c.1419T>C p.H473= Synonymous 10/27 - 1
13-32907034-T-G c.1419T>G p.H473Q Missense 10/27 - 1
13-32907037-T-G c.1422T>G p.L474= Synonymous 10/27 - 1
13-32907037-T-A c.1422T>A p.L474= Synonymous 10/27 - 1
13-32907037-T-C c.1422T>C p.L474= Synonymous 10/27 - 1
13-32907042-C-T c.1427C>T p.S476F Missense 10/27 - 2
13-32907044-TC-T c.1429del p.H477Ifs*8 Frameshift 10/27 - 1
13-32907046-T-C c.1431T>C p.H477= Synonymous 10/27 - 1
13-32907050-G-T c.1435G>T p.D479Y Missense 10/27 - 2
13-32907052-C-G c.1437C>G p.D479E Missense 10/27 - 2
13-32907052-C-A c.1437C>A p.D479E Missense 10/27 - 1
13-32907052-AC-A c.1437del p.C480Afs*5 Frameshift 10/27 - 1
13-32907054-G-C c.1439G>C p.C480S Missense 10/27 - 1
13-32907053-T-A c.1438T>A p.C480S Missense 10/27 - 1
13-32907055-C-A c.1440C>A p.C480* Nonsense 10/27 - 1
13-32907056-A-G c.1441A>G p.I481V Missense 10/27 - 2
13-32907057-T-G c.1442T>G p.I481S Missense 10/27 - 1
13-32907059-TC-T c.1444del p.A483Qfs*2 Frameshift 10/27 - 1
13-32907061-TTGC-T c.1446_1448del p.A483del InFrameDeletion 10/27 - 1
13-32907063-C-T c.1448C>T p.A483V Missense 10/27 - 1
13-32907065-G-GA c.1450_1451insA p.V484Dfs*30 Frameshift 10/27 - 1
13-32907067-A-G c.1452A>G p.V484= Synonymous 10/27 - 2
13-32907067-A-C c.1452A>C p.V484= Synonymous 10/27 - 1
13-32907067-A-T c.1452A>T p.V484= Synonymous 10/27 - 1
13-32907071-C-T c.1456C>T p.Q486* Nonsense 10/27 - 3
13-32907071-GC-G c.1456del p.Q486Rfs*23 Frameshift 10/27 - 1
13-32907075-C-A c.1460C>A p.A487E Missense 10/27 - 2
13-32907075-C-T c.1460C>T p.A487V Missense 10/27 - 1
13-32907076-A-T c.1461A>T p.A487= Synonymous 10/27 - 1
13-32907075-C-CA c.1462dup p.I488Nfs*26 Frameshift 10/27 - 1
13-32907077-A-G c.1462A>G p.I488V Missense 10/27 - 3
13-32907077-A-C c.1462A>C p.I488L Missense 10/27 - 1
13-32907078-T-G c.1463T>G p.I488R Missense 10/27 - 1
13-32907081-C-G c.1466C>G p.S489C Missense 10/27 - 3
13-32907086-AC-TG c.1471_1472delinsTG p.T491C Missense 10/27 - 1
13-32907087-AC-A c.1472del p.T491Ifs*18 Frameshift 10/27 - 1
13-32907090-C-T c.1475C>T p.S492F Missense 10/27 - 1
13-32907093-C-A c.1478C>A p.P493Q Missense 10/27 - 1
13-32907093-C-T c.1478C>T p.P493L Missense 10/27 - 1
13-32907094-A-T c.1479A>T p.P493= Synonymous 10/27 - 1
13-32907094-A-G c.1479A>G p.P493= Synonymous 10/27 - 1
13-32907094-A-C c.1479A>C p.P493= Synonymous 10/27 - 1
13-32907095-G-A c.1480G>A p.V494M Missense 10/27 - 2
13-32907095-AG-A c.1480del p.V494Wfs*15 Frameshift 10/27 - 1
13-32907096-GT-G c.1481del p.V494Gfs*15 Frameshift 10/27 - 1
13-32907098-G-A c.1483G>A p.A495T Missense 10/27 - 1
13-32907102-C-T c.1487C>T p.S496F Missense 10/27 - 1
13-32907100-TTC-T c.1487_1488del p.S496Ffs*17 Frameshift 10/27 - 1
13-32907107-T-C c.1492T>C p.F498L Missense 10/27 - 1
13-32907109-T-A c.1494T>A p.F498L Missense 10/27 - 1
13-32907109-T-G c.1494T>G p.F498L Missense 10/27 - 1
13-32907108-T-G c.1493T>G p.F498C Missense 10/27 - 1
13-32907110-C-T c.1495C>T p.Q499* Nonsense 10/27 - 2
13-32907111-AG-A c.1499del p.G500Vfs*9 Frameshift 10/27 - 2
13-32907118-C-G c.1503C>G p.I501M Missense 10/27 - 1
13-32907119-CAAAAA-C c.1504_1508del p.K502Vfs*10 Frameshift 10/27 - 4
13-32907119-A-C c.1504A>C p.K502Q Missense 10/27 - 2
13-32907118-CAAAA-C c.1505_1508del p.K502Sfs*6 Frameshift 10/27 - 1
13-32907124-GTC-G c.1511_1512del p.S504Yfs*9 Frameshift 10/27 - 1
13-32907128-A-T c.1513A>T p.I505L Missense 10/27 - 1
13-32907128-A-G c.1513A>G p.I505V Missense 10/27 - 1
13-32907129-T-C c.1514T>C p.I505T Missense 10/27 - 16
13-32907129-AT-A c.1514del p.I505Nfs*4 Frameshift 10/27 - 1
13-32907129-T-G c.1514T>G p.I505R Missense 10/27 - 1
13-32907131-ATTCAG-A c.1516_1520del p.F506Nfs*6 Frameshift 10/27 - 1
13-32907133-C-T c.1518C>T p.F506= Synonymous 10/27 - 1
13-32907135-G-A c.1520G>A p.R507K Missense 10/27 - 1
13-32907135-GA-G c.1522del p.I508* Frameshift 10/27 - 1
13-32907137-A-C c.1522A>C p.I508L Missense 10/27 - 1
13-32907140-A-T c.1525A>T p.R509* Nonsense 10/27 - 1
13-32907141-G-T c.1526G>T p.R509I Missense 10/27 - 1
13-32907143-G-T c.1528G>T p.E510* Nonsense 10/27 - 10
13-32907139-AAG-A c.1528_1529del p.E510Ifs*3 Frameshift 10/27 - 1
13-32907145-A-G c.1530A>G p.E510= Synonymous 10/27 - 1
13-32907149-C-T c.1534C>T p.P512S Missense 10/27 - 1
13-32907150-C-A c.1535C>A p.P512H Missense 10/27 - 1
13-32907153-A-G c.1538A>G p.K513R Missense 10/27 - 6
13-32907151-TA-T c.1539del p.E514Rfs*11 Frameshift 10/27 - 1
13-32907160-T-G c.1545T>G p.T515= Synonymous 10/27 - 1
13-32907159-CTT-C c.1546_1547del p.F516Qfs*10 Frameshift 10/27 - 1
13-32907159-CT-C c.1547del p.F516Sfs*9 Frameshift 10/27 - 1
13-32907164-A-G c.1549A>G p.N517D Missense 10/27 - 1
13-32907165-A-G c.1550A>G p.N517S Missense 10/27 - 7
13-32907165-A-T c.1550A>T p.N517I Missense 10/27 - 1
13-32907166-T-C c.1551T>C p.N517= Synonymous 10/27 - 1
13-32907168-C-CT c.1553_1554insT p.S519Kfs*8 Frameshift 10/27 - 1
13-32907171-G-C c.1556G>C p.S519T Missense 10/27 - 1
13-32907171-GT-G c.1561del p.S521Qfs*4 Frameshift 10/27 - 1
13-32907177-C-G c.1562C>G p.S521* Nonsense 10/27 - 1
13-32907182-C-T c.1567C>T p.H523Y Missense 10/27 - 1
13-32907183-A-G c.1568A>G p.H523R Missense 10/27 - 11
13-32907182-CAT-C c.1570_1571del p.M524Dfs*2 Frameshift 10/27 - 1
13-32907187-G-C c.1572G>C p.M524I Missense 10/27 - 1
13-32907187-G-T c.1572G>T p.M524I Missense 10/27 - 1
13-32907189-C-G c.1574C>G p.T525S Missense 10/27 - 1
13-32907189-C-T c.1574C>T p.T525I Missense 10/27 - 1
13-32907193-T-A c.1578T>A p.D526E Missense 10/27 - 1
13-32907195-CA-C c.1583del p.N528Tfs*30 Frameshift 10/27 - 1
13-32907198-A-C c.1583A>C p.N528T Missense 10/27 - 1
13-32907199-CT-C c.1587del p.F529Lfs*29 Frameshift 10/27 - 1
13-32907203-A-T c.1588A>T p.K530* Nonsense 10/27 - 1
13-32907206-A-G c.1591A>G p.K531E Missense 10/27 - 1
13-32907202-TA-T c.1593del p.E532Kfs*26 Frameshift 10/27 - 2
13-32907208-A-G c.1593A>G p.K531= Synonymous 10/27 - 1
13-32907202-T-TA c.1593dup p.E532Rfs*3 Frameshift 10/27 - 2
13-32907209-GA-G c.1597del p.T533Lfs*25 Frameshift 10/27 - 2
13-32907215-G-A c.1600G>A p.E534K Missense 10/27 - 2
13-32907216-A-G c.1601A>G p.E534G Missense 10/27 - 2
13-32907216-A-C c.1601A>C p.E534A Missense 10/27 - 1
13-32907218-G-T c.1603G>T p.A535S Missense 10/27 - 2
13-32907218-G-A c.1603G>A p.A535T Missense 10/27 - 1
13-32907222-C-CT c.1608dup p.E537* Nonsense 10/27 - 1
13-32907228-G-A c.1613G>A p.S538N Missense 10/27 - 1
13-32907231-G-C c.1616G>C p.G539A Missense 10/27 - 1
13-32907234-T-C c.1619T>C p.L540P Missense 10/27 - 1
13-32907236-G-A c.1621G>A p.E541K Missense 10/27 - 2
13-32907238-A-C c.1623A>C p.E541D Missense 10/27 - 1
13-32907238-A-T c.1623A>T p.E541D Missense 10/27 - 1
13-32907241-A-G c.1626A>G p.I542M Missense 10/27 - 1
13-32907242-C-A c.1627C>A p.H543N Missense 10/27 - 4
13-32907245-A-C c.1630A>C p.T544P Missense 10/27 - 1
13-32907245-A-G c.1630A>G p.T544A Missense 10/27 - 3
13-32907246-ACT-A c.1631_1632del p.T544Sfs*15 Frameshift 10/27 - 1
13-32907246-C-T c.1631C>T p.T544I Missense 10/27 - 1
13-32907248-G-A c.1633G>A p.V545I Missense 10/27 - 3
13-32907248-GTT-ATG c.1633_1635delinsATG p.V545M Missense 10/27 - 1
13-32907248-GT-G c.1636del p.C546Afs*12 Frameshift 10/27 - 2
13-32907251-TGCTCACAGAAGGA-T c.1638_1650del p.C546Wfs*8 Frameshift 10/27 - 1
13-32907253-C-T c.1638C>T p.C546= Synonymous 10/27 - 1
13-32907255-C-A c.1640C>A p.S547* Nonsense 10/27 - 2
13-32907255-C-G c.1640C>G p.S547* Nonsense 10/27 - 2
13-32907257-C-T c.1642C>T p.Q548* Nonsense 10/27 - 5
13-32907259-G-A c.1644G>A p.Q548= Synonymous 10/27 - 2
13-32907259-G-T c.1644G>T p.Q548H Missense 10/27 - 1
13-32907260-A-G c.1645A>G p.K549E Missense 10/27 - 1
13-32907257-CAGA-C c.1645_1647del p.K549del InFrameDeletion 10/27 - 1
13-32907261-A-G c.1646A>G p.K549R Missense 10/27 - 1
13-32907262-G-A c.1647G>A p.K549= Synonymous 10/27 - 1
13-32907263-G-A c.1648G>A p.E550K Missense 10/27 - 1
13-32907263-G-C c.1648G>C p.E550Q Missense 10/27 - 1
13-32907264-A-AG c.1651dup p.D551Gfs*9 Frameshift 10/27 - 1
13-32907269-CT-C c.1654del p.S552Pfs*6 Frameshift 10/27 - 1
13-32907270-C-A c.1655C>A p.S552Y Missense 10/27 - 1
13-32907271-C-A c.1656C>A p.S552= Synonymous 10/27 - 1
13-32907273-T-G c.1658T>G p.L553* Nonsense 10/27 - 1
13-32907274-A-G c.1659A>G p.L553= Synonymous 10/27 - 1
13-32907277-T-G c.1662T>G p.C554W Missense 10/27 - 5
13-32907277-TC-T c.1664del p.P555Qfs*3 Frameshift 10/27 - 1
13-32907280-A-T c.1665A>T p.P555= Synonymous 10/27 - 1
13-32907280-A-G c.1665A>G p.P555= Synonymous 10/27 - 1
13-32907280-A-C c.1665A>C p.P555= Synonymous 10/27 - 1
13-32907285-T-G c.1670T>G p.L557* Nonsense 10/27 - 6
13-32907285-T-A c.1670T>A p.L557* Nonsense 10/27 - 2
13-32907285-TA-T c.1672del p.I558Lfs*15 Frameshift 10/27 - 2
13-32907287-A-C c.1672A>C p.I558L Missense 10/27 - 1
13-32907288-T-C c.1673T>C p.I558T Missense 10/27 - 1
13-32907291-A-G c.1676A>G p.D559G Missense 10/27 - 3
13-32907294-A-G c.1679A>G p.N560S Missense 10/27 - 1
13-32907295-T-C c.1680T>C p.N560= Synonymous 10/27 - 1
13-32907304-G-A c.1689G>A p.W563* Nonsense 10/27 - 6
13-32907303-G-A c.1688G>A p.W563* Nonsense 10/27 - 4
13-32907303-G-C c.1688G>C p.W563S Missense 10/27 - 1
13-32907302-TG-T c.1689del p.W563Cfs*10 Frameshift 10/27 - 1
13-32907306-C-G c.1691C>G p.P564R Missense 10/27 - 1
13-32907306-C-T c.1691C>T p.P564L Missense 10/27 - 1
13-32907315-C-T c.1700C>T p.T567I Missense 10/27 - 1
13-32907318-C-T c.1703C>T p.T568I Missense 10/27 - 1
13-32907315-CCA-C c.1705_1706del p.Q569Efs*20 Frameshift 10/27 - 1
13-32907324-A-G c.1709A>G p.N570S Missense 10/27 - 1
13-32907324-AT-A c.1711del p.S571Lfs*2 Frameshift 10/27 - 1
13-32907326-T-C c.1711T>C p.S571P Missense 10/27 - 1
13-32907327-C-T c.1712C>T p.S571F Missense 10/27 - 1
13-32907328-T-C c.1713T>C p.S571= Synonymous 10/27 - 1
13-32907329-G-A c.1714G>A p.V572I Missense 10/27 - 2
13-32907329-G-C c.1714G>C p.V572L Missense 10/27 - 2
13-32907329-G-T c.1714G>T p.V572L Missense 10/27 - 1
13-32907330-T-C c.1715T>C p.V572A Missense 10/27 - 1
13-32907331-A-C c.1716A>C p.V572= Synonymous 10/27 - 1
13-32907331-A-G c.1716A>G p.V572= Synonymous 10/27 - 1
13-32907331-A-T c.1716A>T p.V572= Synonymous 10/27 - 1
13-32907347-G-C c.1732G>C p.G578R Missense 10/27 - 2
13-32907348-G-A c.1733G>A p.G578D Missense 10/27 - 4
13-32907350-T-A c.1735T>A p.L579I Missense 10/27 - 1
13-32907351-T-A c.1736T>A p.L579* Nonsense 10/27 - 2
13-32907351-T-G c.1736T>G p.L579* Nonsense 10/27 - 4
13-32907353-A-G c.1738A>G p.I580V Missense 10/27 - 1
13-32907355-A-G c.1740A>G p.I580M Missense 10/27 - 1
13-32907357-C-T c.1742C>T p.S581F Missense 10/27 - 1
13-32907359-A-C c.1744A>C p.T582P Missense 10/27 - 20
13-32907359-A-G c.1744A>G p.T582A Missense 10/27 - 2
13-32907363-T-A c.1748T>A p.L583* Nonsense 10/27 - 3
13-32907363-T-TA c.1748_1749insA p.K584Efs*6 Frameshift 10/27 - 1
13-32907364-G-A c.1749G>A p.L583= Synonymous 10/27 - 1
13-32907364-G-C c.1749G>C p.L583F Missense 10/27 - 1
13-32907365-A-T c.1750A>T p.K584* Nonsense 10/27 - 1
13-32907364-GA-G c.1754del p.K585Rfs*29 Frameshift 10/27 - 2
13-32907365-AAAAAG-A c.1755_1759del p.K585Nfs*3 Frameshift 10/27 - 8
13-32907371-A-T c.1756A>T p.K586* Nonsense 10/27 - 2
13-32907371-A-G c.1756A>G p.K586E Missense 10/27 - 1
13-32907375-AC-A c.1760del p.T587Kfs*27 Frameshift 10/27 - 1
13-32907375-C-T c.1760C>T p.T587I Missense 10/27 - 1
13-32907375-CA-TG c.1760_1761inv p.T587M Missense 10/27 - 1
13-32907375-C-G c.1760C>G p.T587R Missense 10/27 - 1
13-32907377-A-C c.1762A>C p.N588H Missense 10/27 - 1
13-32907377-A-G c.1762A>G p.N588D Missense 10/27 - 4
13-32907375-CAAAT-C c.1763_1766del p.N588Sfs*25 Frameshift 10/27 - 12
13-32907378-A-G c.1763A>G p.N588S Missense 10/27 - 2
13-32907380-TAA-T c.1765_1766del p.K589Vfs*7 Frameshift 10/27 - 2
13-32907381-A-C c.1766A>C p.K589T Missense 10/27 - 1
13-32907384-T-G c.1769T>G p.F590C Missense 10/27 - 5
13-32907386-AT-TA c.1771_1772delinsTA p.I591Y Missense 10/27 - 1
13-32907387-T-C c.1772T>C p.I591T Missense 10/27 - 2
13-32907387-TT-AG c.1772_1773delinsAG p.I591K Missense 10/27 - 1
13-32907382-GTTTA-G c.1773_1776del p.I591Mfs*22 Frameshift 10/27 - 5
13-32907388-T-G c.1773T>G p.I591M Missense 10/27 - 2
13-32907386-AT-A c.1774del p.Y592Mfs*22 Frameshift 10/27 - 2
13-32907390-A-G c.1775A>G p.Y592C Missense 10/27 - 1
13-32907395-A-T c.1780A>T p.I594L Missense 10/27 - 1
13-32907398-C-T c.1783C>T p.H595Y Missense 10/27 - 1
13-32907401-G-T c.1786G>T p.D596Y Missense 10/27 - 1
13-32907401-G-C c.1786G>C p.D596H Missense 10/27 - 6
13-32907402-GATGAAACATCTTA-G c.1787_1799del p.D596Vfs*14 Frameshift 10/27 - 1
13-32907402-A-G c.1787A>G p.D596G Missense 10/27 - 1
13-32907403-T-C c.1788T>C p.D596= Synonymous 10/27 - 3
13-32907403-T-G c.1788T>G p.D596E Missense 10/27 - 1
13-32907407-A-G c.1792A>G p.T598A Missense 10/27 - 21
13-32907404-GA-G c.1792del p.T598Hfs*16 Frameshift 10/27 - 2
13-32907408-C-T c.1793C>T p.T598I Missense 10/27 - 1
13-32907410-TC-GG c.1795_1796delinsGG p.S599G Missense 10/27 - 1
13-32907408-CATCTT-C c.1796_1800del p.S599* Frameshift 10/27 - 18
13-32907411-C-G c.1796C>G p.S599C Missense 10/27 - 2
13-32907411-CT-AA c.1796_1797delinsAA p.S599* Nonsense 10/27 - 2
13-32907411-C-T c.1796C>T p.S599F Missense 10/27 - 4
13-32907412-T-G c.1797T>G p.S599= Synonymous 10/27 - 1
13-32907412-T-C c.1797T>C p.S599= Synonymous 10/27 - 1
13-32907412-T-A c.1797T>A p.S599= Synonymous 10/27 - 1
13-32907413-T-C c.1798T>C p.Y600H Missense 10/27 - 3
13-32907413-TA-CT c.1798_1799delinsCT p.Y600L Missense 10/27 - 1
13-32907413-T-G c.1798T>G p.Y600D Missense 10/27 - 1
13-32907415-T-A c.1800T>A p.Y600* Nonsense 10/27 - 2
13-32907415-T-G c.1800T>G p.Y600* Nonsense 10/27 - 3
13-32907415-T-TA c.1803dup p.G602Rfs*14 Frameshift 10/27 - 1
13-32907419-G-A c.1804G>A p.G602R Missense 10/27 - 9
13-32907419-G-T c.1804G>T p.G602* Nonsense 10/27 - 1
13-32907419-G-C c.1804G>C p.G602R Missense 10/27 - 1
13-32907419-AGG-A c.1804_1805del p.G602Kfs*13 Frameshift 10/27 - 1
13-32907420-G-T c.1805G>T p.G602V Missense 10/27 - 2
13-32907420-G-A c.1805G>A p.G602E Missense 10/27 - 1
13-32907418-AG-A c.1805del p.G602Efs*12 Frameshift 10/27 - 1
13-32907425-A-G c.1810A>G p.K604E Missense 10/27 - 2
13-32907420-GA-G c.1813del p.I605Yfs*9 Frameshift 10/27 - 21
13-32907428-A-AC c.1813_1814insC p.I605Tfs*11 Frameshift 10/27 - 2
13-32907420-G-GA c.1813dup p.I605Nfs*11 Frameshift 10/27 - 46
13-32907429-TA-AC c.1814_1815delinsAC p.I605N Missense 10/27 - 2
13-32907429-AT-A c.1814del p.I605Nfs*9 Frameshift 10/27 - 1
13-32907429-T-TA c.1815dup p.P606Tfs*10 Frameshift 10/27 - 3
13-32907430-A-G c.1815A>G p.I605M Missense 10/27 - 1
13-32907431-C-A c.1816C>A p.P606T Missense 10/27 - 2
13-32907432-C-T c.1817C>T p.P606L Missense 10/27 - 2
13-32907433-G-T c.1818G>T p.P606= Synonymous 10/27 - 1
13-32907433-G-A c.1818G>A p.P606= Synonymous 10/27 - 1
13-32907433-G-C c.1818G>C p.P606= Synonymous 10/27 - 1
13-32907434-AA-GC c.1819_1820delinsGC p.K607A Missense 10/27 - 1
13-32907434-A-T c.1819A>T p.K607* Nonsense 10/27 - 1
13-32907435-A-C c.1820A>C p.K607T Missense 10/27 - 4
13-32907437-GA-CG c.1822_1823delinsCG p.D608R Missense 10/27 - 1
13-32907437-G-GA c.1823dup p.D608Efs*8 Frameshift 10/27 - 1
13-32907440-C-T c.1825C>T p.Q609* Nonsense 10/27 - 4
13-32907440-C-G c.1825C>G p.Q609E Missense 10/27 - 3
13-32907445-A-T c.1830A>T p.K610N Missense 10/27 - 1
13-32907447-C-A c.1832C>A p.S611* Nonsense 10/27 - 7
13-32907447-C-CA c.1833dup p.E612Rfs*4 Frameshift 10/27 - 1
13-32907449-G-A c.1834G>A p.E612K Missense 10/27 - 1
13-32907449-G-T c.1834G>T p.E612* Nonsense 10/27 - 2
13-32907452-C-T c.1837C>T p.L613= Synonymous 10/27 - 1
13-32907453-T-G c.1838T>G p.L613R Missense 10/27 - 2
13-32907454-A-G c.1839A>G p.L613= Synonymous 10/27 - 1
13-32907455-A-G c.1840A>G p.I614V Missense 10/27 - 1
13-32907455-A-ATT c.1841_1842dup p.N615Lfs*30 Frameshift 10/27 - 1
13-32907456-T-C c.1841T>C p.I614T Missense 10/27 - 1
13-32907455-A-AT c.1842dup p.N615* Nonsense 10/27 - 5
13-32907460-ACT-A c.1845_1846del p.N615Kfs*6 Frameshift 10/27 - 1
13-32907464-T-C c.1849T>C p.S617P Missense 10/27 - 1
13-32907465-C-A c.1850C>A p.S617* Nonsense 10/27 - 1
13-32907470-C-T c.1855C>T p.Q619* Nonsense 10/27 - 5
13-32907470-C-CA c.1856dup p.F620Vfs*2 Frameshift 10/27 - 1
13-32907472-G-T c.1857G>T p.Q619H Missense 10/27 - 1
13-32907474-TTTGAAGC-T c.1859_1865del p.F620* Frameshift 10/27 - 1
13-32907480-C-T c.1865C>T p.A622V Missense 10/27 - 1
13-32907481-A-T c.1866A>T p.A622= Synonymous 10/27 - 2
13-32907484-T-C c.1869T>C p.N623= Synonymous 10/27 - 1
13-32907486-C-T c.1871C>T p.A624V Missense 10/27 - 1
13-32907495-C-T c.1880C>T p.A627V Missense 10/27 - 1
13-32907496-CA-C c.1881del p.P628Hfs*16 Frameshift 10/27 - 1
13-32907500-CTTACATT-C c.1887_1893del p.T630Qfs*12 Frameshift 10/27 - 2
13-32907502-T-TA c.1888dup p.T630Nfs*6 Frameshift 10/27 - 6
13-32907502-T-TAA c.1888_1889insAA p.T630Kfs*15 Frameshift 10/27 - 1
13-32907504-C-T c.1889C>T p.T630I Missense 10/27 - 10
13-32907504-CA-AC c.1889_1890delinsAC p.T630N Missense 10/27 - 1
13-32907504-AC-A c.1889del p.T630Nfs*14 Frameshift 10/27 - 1
13-32907510-C-G c.1895C>G p.A632G Missense 10/27 - 1
13-32907513-A-G c.1898A>G p.N633S Missense 10/27 - 1
13-32907519-A-G c.1904A>G p.D635G Missense 10/27 - 1
13-32907520-T-G c.1905T>G p.D635E Missense 10/27 - 2
13-32907520-ATTCAG-A c.1905_1909del p.D635Efs*15 SpliceDonorDeletion 10/27 - 1
13-32907521-T-C c.1906T>C p.S636P Missense 10/27 - 1
13-32907522-C-G c.1907C>G p.S636* Nonsense 10/27 - 2
13-32907525-G-A c.1909+1G>A - IntronicSNV - 10/26 3
13-32907531-C-T c.1909+7C>T - IntronicSNV - 10/26 1
13-32907532-CT-C c.1909+8del - IntronicDeletion - 10/26 1
13-32907535-CT-C c.1909+22del - IntronicDeletion - 10/26 4
13-32907535-C-CT c.1909+22dup - IntronicInsertion - 10/26 1
13-32907615-ATATCT-A c.1909+95_1909+99del - IntronicDeletion - 10/26 1
13-32910328-T-C c.1910-74T>C - IntronicSNV - 10/26 2
13-32910351-G-T c.1910-51G>T - IntronicSNV - 10/26 2
13-32910403-T-G c.1911T>G p.G637= Synonymous 11/27 - 2
13-32910403-T-C c.1911T>C p.G637= Synonymous 11/27 - 2
13-32910403-T-A c.1911T>A p.G637= Synonymous 11/27 - 1
13-32910407-T-C c.1915T>C p.L639= Synonymous 11/27 - 1
13-32910414-C-T c.1922C>T p.S641F Missense 11/27 - 1
13-32910414-C-A c.1922C>A p.S641Y Missense 11/27 - 2
13-32910416-T-C c.1924T>C p.S642P Missense 11/27 - 1
13-32910419-G-A c.1927G>A p.V643M Missense 11/27 - 1
13-32910421-TG-T c.1929del p.R645Efs*15 Frameshift 11/27 - 13
13-32910425-AG-GA c.1933_1934delinsGA p.R645E Missense 11/27 - 1
13-32910426-G-A c.1934G>A p.R645K Missense 11/27 - 1
13-32910425-A-AG c.1934dup p.S646Kfs*6 Frameshift 11/27 - 1
13-32910428-A-C c.1936A>C p.S646R Missense 11/27 - 1
13-32910430-C-T c.1938C>T p.S646= Synonymous 11/27 - 3
13-32910437-C-T c.1945C>T p.Q649* Nonsense 11/27 - 2
13-32910444-A-G c.1952A>G p.D651G Missense 11/27 - 2
13-32910452-G-A c.1960G>A p.E654K Missense 11/27 - 1
13-32910452-G-GA c.1962dup p.P655Tfs*7 Frameshift 11/27 - 5
13-32910452-GA-G c.1962del p.E654Dfs*6 Frameshift 11/27 - 11
13-32910454-AC-A c.1964del p.P655Qfs*5 Frameshift 11/27 - 7
13-32910456-C-A c.1964C>A p.P655Q Missense 11/27 - 1
13-32910456-C-G c.1964C>G p.P655R Missense 11/27 - 13
13-32910462-T-A c.1970T>A p.L657* Nonsense 11/27 - 2
13-32910465-C-T c.1973C>T p.S658F Missense 11/27 - 1
13-32910467-T-C c.1975T>C p.L659= Synonymous 11/27 - 1
13-32910470-A-G c.1978A>G p.T660A Missense 11/27 - 1
13-32910471-C-T c.1979C>T p.T660I Missense 11/27 - 1
13-32910472-T-A c.1980T>A p.T660= Synonymous 11/27 - 1
13-32910472-T-G c.1980T>G p.T660= Synonymous 11/27 - 1
13-32910472-T-C c.1980T>C p.T660= Synonymous 11/27 - 1
13-32910480-T-C c.1988T>C p.F663S Missense 11/27 - 1
13-32910477-CT-C c.1989del p.F663Lfs*5 Frameshift 11/27 - 1
13-32910483-G-A c.1991G>A p.G664E Missense 11/27 - 1
13-32910486-C-T c.1994C>T p.T665I Missense 11/27 - 1
13-32910488-A-G c.1996A>G p.I666V Missense 11/27 - 1
13-32910493-G-C c.2001G>C p.L667= Synonymous 11/27 - 1
13-32910494-A-G c.2002A>G p.R668G Missense 11/27 - 1
13-32910496-G-GA c.2007dup p.C670Mfs*3 Frameshift 11/27 - 1
13-32910506-A-G c.2014A>G p.R672G Missense 11/27 - 1
13-32910506-TA-T c.2014del p.R672Efs*10 Frameshift 11/27 - 1
13-32910512-G-T c.2020G>T p.E674* Nonsense 11/27 - 1
13-32910512-GA-G c.2023del p.T675Hfs*7 Frameshift 11/27 - 1
13-32910516-ACATGT-A c.2024_2028del p.T675Ifs*2 Frameshift 11/27 - 1
13-32910517-CA-C c.2025del p.C676Vfs*6 Frameshift 11/27 - 1
13-32910518-TG-AC c.2026_2027delinsAC p.C676T Missense 11/27 - 3
13-32910519-GTTC-G c.2029_2031del p.S677del InFrameDeletion 11/27 - 1
13-32910522-C-G c.2030C>G p.S677C Missense 11/27 - 1
13-32910525-A-G c.2033A>G p.N678S Missense 11/27 - 1
13-32910533-G-A c.2041G>A p.V681I Missense 11/27 - 1
13-32910533-G-T c.2041G>T p.V681L Missense 11/27 - 1
13-32910538-C-A c.2046C>A p.I682= Synonymous 11/27 - 1
13-32910539-T-C c.2047T>C p.S683P Missense 11/27 - 1
13-32910536-ATCTC-A c.2047_2050del p.S683Rfs*46 Frameshift 11/27 - 1
13-32910536-ATC-A c.2049_2050del p.Q684Gfs*3 Frameshift 11/27 - 2
13-32910542-C-T c.2050C>T p.Q684* Nonsense 11/27 - 1
13-32910542-C-A c.2050C>A p.Q684K Missense 11/27 - 1
13-32910547-T-C c.2055T>C p.D685= Synonymous 11/27 - 1
13-32910548-C-A c.2056C>A p.L686I Missense 11/27 - 1
13-32910551-TGATTA-T c.2059_2063del p.D687* Frameshift 11/27 - 5
13-32910551-GAT-TAA c.2059_2061delinsTAA p.D687* Nonsense 11/27 - 1
13-32910555-A-G c.2063A>G p.Y688C Missense 11/27 - 1
13-32910561-A-G c.2069A>G p.E690G Missense 11/27 - 1
13-32910563-AG-A c.2071del p.A691Qfs*39 Frameshift 11/27 - 2
13-32910564-C-T c.2072C>T p.A691V Missense 11/27 - 1
13-32910569-T-G c.2077T>G p.C693G Missense 11/27 - 1
13-32910576-A-T c.2084A>T p.K695M Missense 11/27 - 1
13-32910577-G-T c.2085G>T p.K695N Missense 11/27 - 1
13-32910582-A-T c.2090A>T p.K697I Missense 11/27 - 1
13-32910578-G-GA c.2091dup p.L698Tfs*10 Frameshift 11/27 - 3
13-32910586-TA-T c.2094del p.Q699Sfs*31 Frameshift 11/27 - 1
13-32910585-TAC-T c.2095_2096del p.Q699Vfs*8 Frameshift 11/27 - 4
13-32910587-C-T c.2095C>T p.Q699* Nonsense 11/27 - 8
13-32910587-AC-A c.2095del p.Q699Sfs*31 Frameshift 11/27 - 1
13-32910588-A-T c.2096A>T p.Q699L Missense 11/27 - 1
13-32910594-T-G c.2102T>G p.F701C Missense 11/27 - 2
13-32910597-T-A c.2105T>A p.I702N Missense 11/27 - 1
13-32910600-C-A c.2108C>A p.T703N Missense 11/27 - 1
13-32910599-AC-A c.2111del p.P704Qfs*26 Frameshift 11/27 - 1
13-32910605-G-T c.2113G>T p.E705* Nonsense 11/27 - 1
13-32910609-C-G c.2117C>G p.A706G Missense 11/27 - 1
13-32910611-G-T c.2119G>T p.D707Y Missense 11/27 - 1
13-32910615-C-A c.2123C>A p.S708Y Missense 11/27 - 1
13-32910618-T-TA c.2126_2127insA p.S710Vfs*9 Frameshift 11/27 - 1
13-32910618-T-C c.2126T>C p.L709P Missense 11/27 - 1
13-32910619-G-C c.2127G>C p.L709= Synonymous 11/27 - 3
13-32910619-G-T c.2127G>T p.L709= Synonymous 11/27 - 2
13-32910619-G-A c.2127G>A p.L709= Synonymous 11/27 - 3
13-32910617-C-T c.2125C>T p.L709= Synonymous 11/27 - 2
13-32910620-TCATG-T c.2130_2133del p.L712Rfs*17 Frameshift 11/27 - 1
13-32910623-T-A c.2131T>A p.C711S Missense 11/27 - 1
13-32910624-G-C c.2132G>C p.C711S Missense 11/27 - 1
13-32910625-C-T c.2133C>T p.C711= Synonymous 11/27 - 1
13-32910625-C-A c.2133C>A p.C711* Nonsense 11/27 - 1
13-32910630-CAGGAA-C c.2138_2142del p.Q713Rfs*4 Frameshift 11/27 - 1
13-32910630-A-T c.2138A>T p.Q713L Missense 11/27 - 2
13-32910631-G-A c.2139G>A p.Q713= Synonymous 11/27 - 1
13-32910630-A-AG c.2140dup p.E714Gfs*5 Frameshift 11/27 - 3
13-32910632-G-T c.2140G>T p.E714* Nonsense 11/27 - 1
13-32910633-A-C c.2141A>C p.E714A Missense 11/27 - 1
13-32910635-GG-AC c.2143_2144delinsAC p.G715T Missense 11/27 - 1
13-32910635-G-A c.2143G>A p.G715R Missense 11/27 - 1
13-32910635-G-C c.2143G>C p.G715R Missense 11/27 - 1
13-32910636-G-C c.2144G>C p.G715A Missense 11/27 - 1
13-32910637-A-T c.2145A>T p.G715= Synonymous 11/27 - 1
13-32910639-A-G c.2147A>G p.Q716R Missense 11/27 - 1
13-32910641-T-C c.2149T>C p.C717R Missense 11/27 - 1
13-32910642-G-A c.2150G>A p.C717Y Missense 11/27 - 1
13-32910643-T-A c.2151T>A p.C717* Nonsense 11/27 - 1
13-32910645-A-C c.2153A>C p.E718A Missense 11/27 - 1
13-32910645-A-T c.2153A>T p.E718V Missense 11/27 - 1
13-32910649-T-C c.2157T>C p.N719= Synonymous 11/27 - 1
13-32910649-T-G c.2157T>G p.N719K Missense 11/27 - 1
13-32910649-T-A c.2157T>A p.N719K Missense 11/27 - 1
13-32910651-A-C c.2159A>C p.D720A Missense 11/27 - 1
13-32910653-C-A c.2161C>A p.P721T Missense 11/27 - 1
13-32910655-A-AGAGAGGCTT c.2163_2164insGAGAGGCTT p.P721_K722insERL InFrameInsertion 11/27 - 1
13-32910656-A-C c.2164A>C p.K722Q Missense 11/27 - 1
13-32910659-A-G c.2167A>G p.S723G Missense 11/27 - 1
13-32910654-CA-C c.2167del p.S723Afs*7 Frameshift 11/27 - 2
13-32910659-AAG-A c.2167_2168del p.S723Qfs*27 Frameshift 11/27 - 1
13-32910660-G-A c.2168G>A p.S723N Missense 11/27 - 1
13-32910660-G-C c.2168G>C p.S723T Missense 11/27 - 1
13-32910661-C-T c.2169C>T p.S723= Synonymous 11/27 - 1
13-32910661-C-CA c.2175dup p.V726Sfs*25 Frameshift 11/27 - 8
13-32910661-CA-C c.2175del p.V726Ffs*4 Frameshift 11/27 - 3
13-32910668-AG-A c.2176del p.V726Ffs*4 Frameshift 11/27 - 4
13-32910670-T-A c.2178T>A p.V726= Synonymous 11/27 - 1
13-32910672-C-T c.2180C>T p.S727L Missense 11/27 - 1
13-32910673-A-T c.2181A>T p.S727= Synonymous 11/27 - 1
13-32910673-A-G c.2181A>G p.S727= Synonymous 11/27 - 1
13-32910673-A-C c.2181A>C p.S727= Synonymous 11/27 - 1
13-32910675-A-C c.2183A>C p.D728A Missense 11/27 - 1
13-32910677-A-G c.2185A>G p.I729V Missense 11/27 - 1
13-32910678-T-C c.2186T>C p.I729T Missense 11/27 - 5
13-32910679-A-G c.2187A>G p.I729M Missense 11/27 - 1
13-32910680-A-AC c.2188_2189insC p.K730Tfs*21 Frameshift 11/27 - 2
13-32910682-A-AT c.2190_2191insT p.E731* Nonsense 11/27 - 1
13-32910683-G-T c.2191G>T p.E731* Nonsense 11/27 - 2
13-32910684-GAA-G c.2192_2193del p.E731Gfs*19 Frameshift 11/27 - 1
13-32910685-AAGAGG-A c.2193_2197del p.E731Dfs*18 Frameshift 11/27 - 2
13-32910688-G-A c.2196G>A p.E732= Synonymous 11/27 - 3
13-32910689-G-A c.2197G>A p.V733I Missense 11/27 - 1
13-32910701-G-A c.2209G>A p.A737T Missense 11/27 - 2
13-32910705-G-A c.2213G>A p.C738Y Missense 11/27 - 1
13-32910715-A-C c.2223A>C p.V741= Synonymous 11/27 - 1
13-32910715-A-G c.2223A>G p.V741= Synonymous 11/27 - 1
13-32910715-A-T c.2223A>T p.V741= Synonymous 11/27 - 1
13-32910716-C-G c.2224C>G p.Q742E Missense 11/27 - 1
13-32910716-C-A c.2224C>A p.Q742K Missense 11/27 - 1
13-32910716-C-T c.2224C>T p.Q742* Nonsense 11/27 - 12
13-32910718-A-T c.2226A>T p.Q742H Missense 11/27 - 1
13-32910720-A-G c.2228A>G p.H743R Missense 11/27 - 1
13-32910721-T-C c.2229T>C p.H743= Synonymous 11/27 - 28
13-32910723-C-G c.2231C>G p.S744* Nonsense 11/27 - 4
13-32910723-C-A c.2231C>A p.S744* Nonsense 11/27 - 2
13-32910725-A-G c.2233A>G p.K745E Missense 11/27 - 1
13-32910729-T-G c.2237T>G p.V746G Missense 11/27 - 1
13-32910729-T-C c.2237T>C p.V746A Missense 11/27 - 1
13-32910732-A-G c.2240A>G p.E747G Missense 11/27 - 1
13-32910734-TACAGTGATACTGACTTTCAATCCCAGAAAAGTCTTTTATATGATC-T c.2244_2288del p.S749_H763del InFrameDeletion 11/27 - 1
13-32910734-TAC-T c.2244_2245del p.Y748* Frameshift 11/27 - 1
13-32910738-G-T c.2246G>T p.S749I Missense 11/27 - 1
13-32910743-A-C c.2251A>C p.T751P Missense 11/27 - 1
13-32910745-T-TTTCA c.2253_2254insTTCA p.D752Ffs*12 Frameshift 11/27 - 1
13-32910744-C-CT c.2253dup p.D752* Nonsense 11/27 - 1
13-32910745-CT-C c.2253del p.D752Tfs*20 Frameshift 11/27 - 1
13-32910742-TACTG-T c.2254_2257del p.D752Ffs*19 Frameshift 11/27 - 5
13-32910748-C-T c.2256C>T p.D752= Synonymous 11/27 - 2
13-32910748-CT-C c.2259del p.Q754Nfs*18 Frameshift 11/27 - 1
13-32910758-C-G c.2266C>G p.Q756E Missense 11/27 - 1
13-32910758-C-T c.2266C>T p.Q756* Nonsense 11/27 - 2
13-32910761-A-T c.2269A>T p.K757* Nonsense 11/27 - 1
13-32910760-GA-G c.2272del p.S758Vfs*14 Frameshift 11/27 - 1
13-32910766-T-G c.2274T>G p.S758R Missense 11/27 - 1
13-32910767-C-T c.2275C>T p.L759F Missense 11/27 - 1
13-32910767-TC-T c.2275del p.L759Ffs*13 Frameshift 11/27 - 4
13-32910767-C-G c.2275C>G p.L759V Missense 11/27 - 2
13-32910767-CT-C c.2279del p.L760Yfs*12 Frameshift 11/27 - 1
13-32910769-TTTATA-T c.2279_2283del p.L760* Frameshift 11/27 - 1
13-32910772-A-C c.2280A>C p.L760F Missense 11/27 - 1
13-32910777-A-G c.2285A>G p.D762G Missense 11/27 - 2
13-32910779-TC-T c.2287del p.H763Mfs*9 Frameshift 11/27 - 1
13-32910782-G-C c.2290G>C p.E764Q Missense 11/27 - 1
13-32910788-G-A c.2296G>A p.A766T Missense 11/27 - 2
13-32910787-TGCCA-T c.2298_2301del p.S767Lfs*4 Frameshift 11/27 - 1
13-32910791-A-C c.2299A>C p.S767R Missense 11/27 - 1
13-32910791-A-T c.2299A>T p.S767C Missense 11/27 - 1
13-32910795-CT-TG c.2303_2304delinsTG p.T768M Missense 11/27 - 1
13-32910797-CTTATTTTAACTCCTACTTCCAAGGATGTTCTGTCAAACCTAG-C c.2307_2348del p.I770_V783del InFrameDeletion 11/27 - 1
13-32910797-C-CT c.2307dup p.I770Yfs*18 Frameshift 11/27 - 1
13-32910797-CTTATTT-C c.2307_2312del p.I770_L771del InFrameDeletion 11/27 - 1
13-32910800-A-G c.2308A>G p.I770V Missense 11/27 - 2
13-32910803-T-C c.2311T>C p.L771= Synonymous 11/27 - 11
13-32910805-A-G c.2313A>G p.L771= Synonymous 11/27 - 2
13-32910803-T-G c.2311T>G p.L771V Missense 11/27 - 1
13-32910804-T-A c.2312T>A p.L771* Nonsense 11/27 - 1
13-32910804-T-G c.2312T>G p.L771* Nonsense 11/27 - 3
13-32910804-T-C c.2312T>C p.L771S Missense 11/27 - 1
13-32910805-A-T c.2313A>T p.L771F Missense 11/27 - 1
13-32910804-TA-T c.2314del p.T772Lfs*11 Frameshift 11/27 - 1
13-32910811-CT-C c.2319del p.T774Lfs*9 Frameshift 11/27 - 1
13-32910812-TA-T c.2320del p.T774Lfs*9 Frameshift 11/27 - 1
13-32910812-ACTTC-A c.2322_2325del p.S775Rfs*7 Frameshift 11/27 - 1
13-32910815-TC-AA c.2323_2324delinsAA p.S775N Missense 11/27 - 1
13-32910813-CT-C c.2323del p.S775Pfs*8 Frameshift 11/27 - 1
13-32910816-C-T c.2324C>T p.S775F Missense 11/27 - 1
13-32910817-CA-C c.2327del p.K776Rfs*7 Frameshift 11/27 - 1
13-32910821-G-A c.2329G>A p.D777N Missense 11/27 - 1
13-32910821-G-GA c.2330dup p.D777Efs*11 Frameshift 11/27 - 9
13-32910824-G-C c.2332G>C p.V778L Missense 11/27 - 1
13-32910824-G-A c.2332G>A p.V778I Missense 11/27 - 1
13-32910828-T-C c.2336T>C p.L779P Missense 11/27 - 1
13-32910831-C-A c.2339C>A p.S780* Nonsense 11/27 - 3
13-32910831-C-G c.2339C>G p.S780* Nonsense 11/27 - 13
13-32910831-TCAAACCTAG-T c.2339_2347del p.S780_V783delinsF MultiAAMissense 11/27 - 1
13-32910831-TC-T c.2339del p.S780* Frameshift 11/27 - 1
13-32910834-A-C c.2342A>C p.N781T Missense 11/27 - 1
13-32910837-T-C c.2345T>C p.L782P Missense 11/27 - 1
13-32910842-A-G c.2350A>G p.M784V Missense 11/27 - 28
13-32910842-ATG-CAT c.2350_2352inv p.M784H Missense 11/27 - 1
13-32910843-T-C c.2351T>C p.M784T Missense 11/27 - 1
13-32910843-AT-A c.2351del p.M784Rfs*26 Frameshift 11/27 - 1
13-32910845-A-G c.2353A>G p.I785V Missense 11/27 - 1
13-32910849-C-T c.2357C>T p.S786F Missense 11/27 - 1
13-32910850-T-G c.2358T>G p.S786= Synonymous 11/27 - 1
13-32910850-T-C c.2358T>C p.S786= Synonymous 11/27 - 1
13-32910850-T-A c.2358T>A p.S786= Synonymous 11/27 - 1
13-32910850-T-TA c.2359dup p.R787Kfs*15 Frameshift 11/27 - 1
13-32910855-G-T c.2363G>T p.G788V Missense 11/27 - 1
13-32910855-G-A c.2363G>A p.G788D Missense 11/27 - 1
13-32910858-A-G c.2366A>G p.K789R Missense 11/27 - 2
13-32910856-CA-C c.2367del p.E790Nfs*20 Frameshift 11/27 - 1
13-32910860-G-T c.2368G>T p.E790* Nonsense 11/27 - 3
13-32910860-AG-A c.2368del p.E790Nfs*20 Frameshift 11/27 - 1
13-32910864-C-T c.2372C>T p.S791L Missense 11/27 - 2
13-32910864-C-G c.2372C>G p.S791* Nonsense 11/27 - 1
13-32910866-T-C c.2374T>C p.Y792H Missense 11/27 - 2
13-32910868-C-A c.2376C>A p.Y792* Nonsense 11/27 - 6
13-32910868-C-G c.2376C>G p.Y792* Nonsense 11/27 - 4
13-32910872-A-G c.2380A>G p.M794V Missense 11/27 - 1
13-32910874-G-A c.2382G>A p.M794I Missense 11/27 - 1
13-32910874-G-T c.2382G>T p.M794I Missense 11/27 - 2
13-32910875-GTCA-G c.2383_2385del p.S795del InFrameDeletion 11/27 - 1
13-32910878-G-A c.2386G>A p.D796N Missense 11/27 - 1
13-32910879-A-G c.2387A>G p.D796G Missense 11/27 - 2
13-32910884-C-T c.2392C>T p.L798F Missense 11/27 - 1
13-32910888-A-G c.2396A>G p.K799R Missense 11/27 - 4
13-32910889-A-AG c.2399dup p.N801* Nonsense 11/27 - 1
13-32910891-G-GT c.2400dup p.N801* Nonsense 11/27 - 1
13-32910893-A-C c.2401A>C p.N801H Missense 11/27 - 1
13-32910892-TAACAATTATGA-T c.2402_2412del p.N801Ifs*2 Frameshift 11/27 - 4
13-32910894-A-T c.2402A>T p.N801I Missense 11/27 - 1
13-32910896-A-G c.2404A>G p.N802D Missense 11/27 - 1
13-32910899-T-TA c.2408dup p.Y803* Nonsense 11/27 - 1
13-32910901-T-G c.2409T>G p.Y803* Nonsense 11/27 - 3
13-32910902-G-C c.2410G>C p.E804Q Missense 11/27 - 1
13-32910902-G-A c.2410G>A p.E804K Missense 11/27 - 1
13-32910903-A-T c.2411A>T p.E804V Missense 11/27 - 1
13-32910904-A-G c.2412A>G p.E804= Synonymous 11/27 - 1
13-32910906-C-G c.2414C>G p.S805C Missense 11/27 - 1
13-32910906-TC-T c.2414del p.S805Lfs*5 Frameshift 11/27 - 1
13-32910908-G-C c.2416G>C p.D806H Missense 11/27 - 6
13-32910911-G-A c.2419G>A p.V807I Missense 11/27 - 1
13-32910914-G-T c.2422G>T p.E808* Nonsense 11/27 - 1
13-32910917-TT-AC c.2425_2426delinsAC p.L809T Missense 11/27 - 1
13-32910918-T-A c.2426T>A p.L809* Nonsense 11/27 - 1
13-32910918-T-G c.2426T>G p.L809* Nonsense 11/27 - 2
13-32910920-AC-A c.2430del p.N812Ifs*13 Frameshift 11/27 - 1
13-32910924-A-C c.2432A>C p.K811T Missense 11/27 - 1
13-32910922-CA-C c.2435del p.N812Ifs*13 Frameshift 11/27 - 2
13-32910927-A-C c.2435A>C p.N812T Missense 11/27 - 1
13-32910933-C-A c.2441C>A p.P814H Missense 11/27 - 1
13-32910931-TC-T c.2442del p.M815Wfs*10 Frameshift 11/27 - 11
13-32910936-TG-T c.2446del p.E816Kfs*9 Frameshift 11/27 - 1
13-32910939-A-G c.2447A>G p.E816G Missense 11/27 - 1
13-32910938-G-GA c.2450dup p.N818Efs*9 Frameshift 11/27 - 1
13-32910942-AAGAATCAAGATGTATG-A c.2450_2465del p.K817Mfs*3 Frameshift 11/27 - 1
13-32910942-A-G c.2450A>G p.K817R Missense 11/27 - 1
13-32910943-G-T c.2451G>T p.K817N Missense 11/27 - 1
13-32910943-G-A c.2451G>A p.K817= Synonymous 11/27 - 1
13-32910946-T-A c.2454T>A p.N818K Missense 11/27 - 1
13-32910947-C-T c.2455C>T p.Q819* Nonsense 11/27 - 1
13-32910948-A-G c.2456A>G p.Q819R Missense 11/27 - 1
13-32910947-CA-C c.2457del p.D820Mfs*5 Frameshift 11/27 - 1
13-32910950-G-T c.2458G>T p.D820Y Missense 11/27 - 1
13-32910951-A-G c.2459A>G p.D820G Missense 11/27 - 4
13-32910952-T-G c.2460T>G p.D820E Missense 11/27 - 1
13-32910952-T-A c.2460T>A p.D820E Missense 11/27 - 1
13-32910958-GT-G c.2466del p.C822Wfs*3 Frameshift 11/27 - 1
13-32910960-CTTTAAATGAAAATTATAAAAACGT-C c.2470_2493del p.L824_V831del InFrameDeletion 11/27 - 1
13-32910963-TTAAATG-T c.2471_2476del p.L824_E826delins* MultiAAMissense 11/27 - 4
13-32910963-T-G c.2471T>G p.L824* Nonsense 11/27 - 2
13-32910963-T-A c.2471T>A p.L824* Nonsense 11/27 - 1
13-32910970-A-C c.2478A>C p.E826D Missense 11/27 - 1
13-32910970-A-T c.2478A>T p.E826D Missense 11/27 - 1
13-32910971-AATT-A c.2482_2484del p.Y828del InFrameDeletion 11/27 - 1
13-32910975-TA-T c.2483del p.Y828Lfs*13 Frameshift 11/27 - 1
13-32910976-T-A c.2484T>A p.Y828* Nonsense 11/27 - 1
13-32910976-T-G c.2484T>G p.Y828* Nonsense 11/27 - 2
13-32910980-A-G c.2488A>G p.N830D Missense 11/27 - 1
13-32910976-T-TA c.2489dup p.N830Kfs*3 Frameshift 11/27 - 1
13-32910982-C-T c.2490C>T p.N830= Synonymous 11/27 - 3
13-32910982-C-CT c.2490_2491insT p.V831Cfs*2 Frameshift 11/27 - 1
13-32910983-G-A c.2491G>A p.V831I Missense 11/27 - 3
13-32910983-G-GT c.2493dup p.E832* Nonsense 11/27 - 1
13-32910986-G-T c.2494G>T p.E832* Nonsense 11/27 - 1
13-32910986-G-A c.2494G>A p.E832K Missense 11/27 - 1
13-32910987-A-G c.2495A>G p.E832G Missense 11/27 - 2
13-32910990-T-A c.2498T>A p.L833Q Missense 11/27 - 1
13-32910990-TGTTGCCAC-AACAG c.2498_2506delinsAACAG p.L833Qfs*7 Frameshift 11/27 - 1
13-32910992-TT-AG c.2500_2501delinsAG p.L834R Missense 11/27 - 1
13-32910993-TG-GT c.2501_2502delinsGT p.L834C Missense 11/27 - 1
13-32910995-C-T c.2503C>T p.P835S Missense 11/27 - 2
13-32910996-C-CA c.2505dup p.P836Tfs*2 Frameshift 11/27 - 2
13-32911002-A-G c.2510A>G p.E837G Missense 11/27 - 1
13-32911004-A-T c.2512A>T p.K838* Nonsense 11/27 - 1
13-32911001-G-GA c.2514dup p.Y839Ifs*42 Frameshift 11/27 - 1
13-32911007-TAC-T c.2517_2518del p.M840Efs*40 Frameshift 11/27 - 1
13-32911011-T-C c.2519T>C p.M840T Missense 11/27 - 3
13-32911013-AGA-CAT c.2521_2523delinsCAT p.R841H Missense 11/27 - 2
13-32911013-AGA-TGG c.2521_2523delinsTGG p.R841W Missense 11/27 - 1
13-32911014-G-A c.2522G>A p.R841K Missense 11/27 - 1
13-32911016-G-A c.2524G>A p.V842I Missense 11/27 - 1
13-32911017-T-C c.2525T>C p.V842A Missense 11/27 - 2
13-32911017-GT-G c.2525del p.V842Efs*16 Frameshift 11/27 - 1
13-32911021-A-C c.2529A>C p.A843= Synonymous 11/27 - 1
13-32911021-A-G c.2529A>G p.A843= Synonymous 11/27 - 1
13-32911021-A-T c.2529A>T p.A843= Synonymous 11/27 - 1
13-32911024-A-G c.2532A>G p.S844= Synonymous 11/27 - 1
13-32911025-C-T c.2533C>T p.P845S Missense 11/27 - 1
13-32911027-T-C c.2535T>C p.P845= Synonymous 11/27 - 1
13-32911030-A-C c.2538A>C p.S846= Synonymous 11/27 - 1
13-32911030-A-G c.2538A>G p.S846= Synonymous 11/27 - 1
13-32911031-A-T c.2539A>T p.R847* Nonsense 11/27 - 2
13-32911031-AGA-CAT c.2539_2541delinsCAT p.R847H Missense 11/27 - 1
13-32911034-AA-GC c.2542_2543delinsGC p.K848A Missense 11/27 - 2
13-32911034-A-C c.2542A>C p.K848Q Missense 11/27 - 1
13-32911035-AG-A c.2545del p.V849Yfs*9 Frameshift 11/27 - 1
13-32911038-T-C c.2546T>C p.V849A Missense 11/27 - 1
13-32911039-A-ACC c.2548_2549insCC p.Q850Pfs*9 Frameshift 11/27 - 2
13-32911040-C-T c.2548C>T p.Q850* Nonsense 11/27 - 1
13-32911042-A-G c.2550A>G p.Q850= Synonymous 11/27 - 3
13-32911039-ACAATT-A c.2551_2555del p.F851Pfs*28 Frameshift 11/27 - 1
13-32911047-A-G c.2555A>G p.N852S Missense 11/27 - 1
13-32911049-C-CA c.2561dup p.N854Kfs*27 Frameshift 11/27 - 1
13-32911052-AAC-A c.2564_2565del p.T855Kfs*25 Frameshift 11/27 - 1
13-32911056-C-T c.2564C>T p.T855I Missense 11/27 - 1
13-32911058-A-T c.2566A>T p.N856Y Missense 11/27 - 1
13-32911060-T-G c.2568T>G p.N856K Missense 11/27 - 1
13-32911065-G-T c.2573G>T p.R858I Missense 11/27 - 1
13-32911065-G-GA c.2574dup p.V859Sfs*22 Frameshift 11/27 - 1
13-32911067-GT-TC c.2575_2576delinsTC p.V859S Missense 11/27 - 2
13-32911068-TA-T c.2578del p.I860Sfs*14 Frameshift 11/27 - 1
13-32911073-C-T c.2581C>T p.Q861* Nonsense 11/27 - 1
13-32911076-A-G c.2584A>G p.K862E Missense 11/27 - 1
13-32911077-A-G c.2585A>G p.K862R Missense 11/27 - 1
13-32911078-A-AT c.2586_2587insT p.N863* Nonsense 11/27 - 1
13-32911079-AA-GC c.2587_2588delinsGC p.N863A Missense 11/27 - 1
13-32911073-C-CA c.2588dup p.N863Kfs*18 Frameshift 11/27 - 12
13-32911073-CA-C c.2588del p.N863Ifs*11 Frameshift 11/27 - 2
13-32911081-T-A c.2589T>A p.N863K Missense 11/27 - 2
13-32911081-AT-A c.2589del p.Q864Kfs*10 Frameshift 11/27 - 3
13-32911081-T-G c.2589T>G p.N863K Missense 11/27 - 2
13-32911082-C-T c.2590C>T p.Q864* Nonsense 11/27 - 2
13-32911082-TC-T c.2590del p.Q864Kfs*10 Frameshift 11/27 - 1
13-32911085-G-A c.2593G>A p.E865K Missense 11/27 - 1
13-32911085-GA-G c.2595del p.E866Kfs*8 Frameshift 11/27 - 4
13-32911094-A-G c.2602A>G p.T868A Missense 11/27 - 1
13-32911095-C-A c.2603C>A p.T868N Missense 11/27 - 1
13-32911098-C-T c.2606C>T p.S869L Missense 11/27 - 4
13-32911098-C-G c.2606C>G p.S869* Nonsense 11/27 - 1
13-32911100-AATT-A c.2608_2610del p.I870del InFrameDeletion 11/27 - 1
13-32911100-AT-A c.2611del p.S871Qfs*3 Frameshift 11/27 - 1
13-32911104-C-A c.2612C>A p.S871* Nonsense 11/27 - 7
13-32911104-C-G c.2612C>G p.S871* Nonsense 11/27 - 3
13-32911104-C-T c.2612C>T p.S871L Missense 11/27 - 7
13-32911111-A-C c.2619A>C p.I873= Synonymous 11/27 - 2
13-32911111-A-T c.2619A>T p.I873= Synonymous 11/27 - 2
13-32911112-A-G c.2620A>G p.T874A Missense 11/27 - 1
13-32911115-G-A c.2623G>A p.V875I Missense 11/27 - 1
13-32911115-G-C c.2623G>C p.V875L Missense 11/27 - 1
13-32911115-GT-CA c.2623_2624delinsCA p.V875H Missense 11/27 - 1
13-32911118-CAA-C c.2626_2627del p.N876Sfs*4 Frameshift 11/27 - 1
13-32911117-CA-C c.2627del p.N876Ifs*19 Frameshift 11/27 - 1
13-32911124-G-A c.2632G>A p.D878N Missense 11/27 - 2
13-32911127-T-C c.2635T>C p.S879P Missense 11/27 - 1
13-32911125-ACT-A c.2636_2637del p.S879* Frameshift 11/27 - 5
13-32911133-G-T c.2641G>T p.E881* Nonsense 11/27 - 7
13-32911136-C-A c.2644C>A p.L882I Missense 11/27 - 1
13-32911136-AC-A c.2644del p.L882Ffs*13 Frameshift 11/27 - 1
13-32911137-T-C c.2645T>C p.L882P Missense 11/27 - 1
13-32911143-C-G c.2651C>G p.S884* Nonsense 11/27 - 1
13-32911143-C-A c.2651C>A p.S884* Nonsense 11/27 - 1
13-32911143-C-CA c.2652dup p.D885Rfs*3 Frameshift 11/27 - 1
13-32911144-A-AT c.2652_2653insT p.D885* Nonsense 11/27 - 1
13-32911142-TCAGA-T c.2653_2656del p.D885Mfs*9 Frameshift 11/27 - 1
13-32911148-A-G c.2656A>G p.N886D Missense 11/27 - 1
13-32911149-A-T c.2657A>T p.N886I Missense 11/27 - 1
13-32911147-CA-C c.2657del p.N886Mfs*9 Frameshift 11/27 - 1
13-32911149-A-G c.2657A>G p.N886S Missense 11/27 - 1
13-32911151-G-C c.2659G>C p.E887Q Missense 11/27 - 1
13-32911158-AT-A c.2670del p.F890Lfs*5 Frameshift 11/27 - 2
13-32911163-G-GT c.2672dup p.F892Lfs*5 Frameshift 11/27 - 2
13-32911164-T-A c.2672T>A p.V891D Missense 11/27 - 1
13-32911168-TCCAA-T c.2676_2679del p.F892Lfs*2 Frameshift 11/27 - 1
13-32911168-C-A c.2676C>A p.F892L Missense 11/27 - 1
13-32911169-C-T c.2677C>T p.Q893* Nonsense 11/27 - 1
13-32911170-A-G c.2678A>G p.Q893R Missense 11/27 - 1
13-32911172-G-A c.2680G>A p.V894I Missense 11/27 - 3
13-32911175-G-A c.2683G>A p.A895T Missense 11/27 - 1
13-32911176-GC-G c.2684del p.A895Vfs*9 Frameshift 11/27 - 3
13-32911177-CTA-C c.2685_2686del p.N896* Frameshift 11/27 - 1
13-32911178-A-T c.2686A>T p.N896Y Missense 11/27 - 1
13-32911177-TA-T c.2687del p.N896Mfs*8 Frameshift 11/27 - 1
13-32911181-G-A c.2689G>A p.E897K Missense 11/27 - 1
13-32911184-A-G c.2692A>G p.R898G Missense 11/27 - 1
13-32911185-G-A c.2693G>A p.R898K Missense 11/27 - 1
13-32911184-A-AG c.2694dup p.N899Efs*2 Frameshift 11/27 - 1
13-32911188-A-T c.2696A>T p.N899I Missense 11/27 - 1
13-32911190-A-G c.2698A>G p.N900D Missense 11/27 - 1
13-32911191-A-T c.2699A>T p.N900I Missense 11/27 - 1
13-32911193-C-A c.2701C>A p.L901I Missense 11/27 - 2
13-32911193-TC-T c.2701del p.A902Lfs*2 Frameshift 11/27 - 6
13-32911193-C-T c.2701C>T p.L901F Missense 11/27 - 1
13-32911194-T-C c.2702T>C p.L901P Missense 11/27 - 1
13-32911196-G-C c.2704G>C p.A902P Missense 11/27 - 1
13-32911202-G-T c.2710G>T p.G904* Nonsense 11/27 - 1
13-32911203-G-A c.2711G>A p.G904E Missense 11/27 - 1
13-32911208-A-G c.2716A>G p.T906A Missense 11/27 - 3
13-32911207-T-TA c.2716dup p.T906Nfs*2 Frameshift 11/27 - 1
13-32911214-G-T c.2722G>T p.E908* Nonsense 11/27 - 3
13-32911220-C-T c.2728C>T p.H910Y Missense 11/27 - 1
13-32911220-C-A c.2728C>A p.H910N Missense 11/27 - 1
13-32911221-A-G c.2729A>G p.H910R Missense 11/27 - 1
13-32911222-T-C c.2730T>C p.H910= Synonymous 11/27 - 1
13-32911223-TG-T c.2731del p.E911Kfs*4 Frameshift 11/27 - 2
13-32911223-G-GA c.2734dup p.T912Nfs*24 Frameshift 11/27 - 1
13-32911229-G-C c.2737G>C p.D913H Missense 11/27 - 1
13-32911231-C-T c.2739C>T p.D913= Synonymous 11/27 - 1
13-32911228-AGACTT-A c.2743_2747del p.T915Cfs*19 Frameshift 11/27 - 3
13-32911237-T-A c.2745T>A p.T915= Synonymous 11/27 - 1
13-32911237-T-G c.2745T>G p.T915= Synonymous 11/27 - 1
13-32911237-T-C c.2745T>C p.T915= Synonymous 11/27 - 1
13-32911238-T-TA c.2746_2747insA p.C916* Nonsense 11/27 - 1
13-32911238-TTGTGTA-T c.2746_2751del p.C916_V917del InFrameDeletion 11/27 - 1
13-32911238-TG-AC c.2746_2747delinsAC p.C916T Missense 11/27 - 1
13-32911240-GT-G c.2748del p.C916Wfs*2 Frameshift 11/27 - 1
13-32911242-T-C c.2750T>C p.V917A Missense 11/27 - 2
13-32911242-T-TA c.2753dup p.N918Kfs*18 Frameshift 11/27 - 1
13-32911246-AC-A c.2754del p.N918Kfs*42 Frameshift 11/27 - 2
13-32911246-C-T c.2754C>T p.N918= Synonymous 11/27 - 1
13-32911247-G-A c.2755G>A p.E919K Missense 11/27 - 2
13-32911247-G-C c.2755G>C p.E919Q Missense 11/27 - 1
13-32911250-C-T c.2758C>T p.P920S Missense 11/27 - 1
13-32911259-A-G c.2767A>G p.K923E Missense 11/27 - 1
13-32911261-G-C c.2769G>C p.K923N Missense 11/27 - 1
13-32911261-G-T c.2769G>T p.K923N Missense 11/27 - 1
13-32911266-C-CT c.2775dup p.T926Yfs*10 Frameshift 11/27 - 1
13-32911267-T-G c.2775T>G p.S925= Synonymous 11/27 - 1
13-32911267-T-C c.2775T>C p.S925= Synonymous 11/27 - 1
13-32911267-T-A c.2775T>A p.S925= Synonymous 11/27 - 1
13-32911268-A-G c.2776A>G p.T926A Missense 11/27 - 1
13-32911271-A-G c.2779A>G p.M927V Missense 11/27 - 3
13-32911273-G-T c.2781G>T p.M927I Missense 11/27 - 2
13-32911273-G-C c.2781G>C p.M927I Missense 11/27 - 1
13-32911273-G-A c.2781G>A p.M927I Missense 11/27 - 1
13-32911278-T-A c.2786T>A p.L929* Nonsense 11/27 - 1
13-32911278-T-G c.2786T>G p.L929* Nonsense 11/27 - 3
13-32911278-T-C c.2786T>C p.L929S Missense 11/27 - 9
13-32911274-GT-G c.2786del p.L929Yfs*31 Frameshift 11/27 - 1
13-32911274-G-GT c.2786dup p.L929Ffs*7 Frameshift 11/27 - 2
13-32911286-G-A c.2794G>A p.D932N Missense 11/27 - 1
13-32911288-C-T c.2796C>T p.D932= Synonymous 11/27 - 1
13-32911286-GAC-G c.2798_2799del p.T933Rfs*2 Frameshift 11/27 - 15
13-32911290-AC-A c.2798del p.T933Kfs*27 Frameshift 11/27 - 1
13-32911293-G-C c.2801G>C p.G934A Missense 11/27 - 1
13-32911295-G-A c.2803G>A p.D935N Missense 11/27 - 17
13-32911295-G-C c.2803G>C p.D935H Missense 11/27 - 6
13-32911295-G-T c.2803G>T p.D935Y Missense 11/27 - 2
13-32911296-A-AT c.2805dup p.K936* Nonsense 11/27 - 6
13-32911297-T-C c.2805T>C p.D935= Synonymous 11/27 - 1
13-32911297-TAAAC-T c.2808_2811del p.A938Pfs*21 Frameshift 11/27 - 121
13-32911297-TA-T c.2808del p.K936Nfs*24 Frameshift 11/27 - 7
13-32911297-T-TA c.2808dup p.Q937Tfs*8 Frameshift 11/27 - 1
13-32911301-C-T c.2809C>T p.Q937* Nonsense 11/27 - 2
13-32911301-C-A c.2809C>A p.Q937K Missense 11/27 - 1
13-32911302-A-C c.2810A>C p.Q937P Missense 11/27 - 1
13-32911304-G-C c.2812G>C p.A938P Missense 11/27 - 2
13-32911305-GC-G c.2813del p.A938Efs*22 Frameshift 11/27 - 2
13-32911307-AACC-A c.2815_2817del p.T939del InFrameDeletion 11/27 - 1
13-32911309-C-T c.2817C>T p.T939= Synonymous 11/27 - 1
13-32911310-C-T c.2818C>T p.Q940* Nonsense 11/27 - 1
13-32911310-CAA-TAT c.2818_2820delinsTAT p.Q940Y Missense 11/27 - 1
13-32911311-A-G c.2819A>G p.Q940R Missense 11/27 - 1
13-32911310-CA-C c.2820del p.V941Cfs*19 Frameshift 11/27 - 1
13-32911313-G-A c.2821G>A p.V941M Missense 11/27 - 1
13-32911316-GT-G c.2824del p.S942Qfs*18 Frameshift 11/27 - 1
13-32911318-A-T c.2826A>T p.S942= Synonymous 11/27 - 1
13-32911318-A-G c.2826A>G p.S942= Synonymous 11/27 - 1
13-32911318-A-C c.2826A>C p.S942= Synonymous 11/27 - 1
13-32911319-A-T c.2827A>T p.I943F Missense 11/27 - 1
13-32911317-CAATT-C c.2828_2831del p.I943Kfs*16 Frameshift 11/27 - 2
13-32911322-A-T c.2830A>T p.K944* Nonsense 11/27 - 32
13-32911321-TAAA-T c.2833_2835del p.K945del InFrameDeletion 11/27 - 2
13-32911321-TAA-T c.2834_2835del p.K945Rfs*13 Frameshift 11/27 - 1
13-32911321-TA-T c.2835del p.D946Ifs*14 Frameshift 11/27 - 2
13-32911328-AG-A c.2836del p.D946Ifs*14 Frameshift 11/27 - 1
13-32911326-AAG-A c.2836_2837del p.D946Ffs*12 Frameshift 11/27 - 1
13-32911328-GA-AT c.2836_2837delinsAT p.D946I Missense 11/27 - 1
13-32911328-AGAT-A c.2836_2838del p.D946del InFrameDeletion 11/27 - 1
13-32911329-GA-G c.2837del p.D946Vfs*14 Frameshift 11/27 - 1
13-32911329-A-AG c.2837_2838insG p.D946Efs*13 Frameshift 11/27 - 1
13-32911329-A-G c.2837A>G p.D946G Missense 11/27 - 1
13-32911330-T-G c.2838T>G p.D946E Missense 11/27 - 1
13-32911332-T-C c.2840T>C p.L947S Missense 11/27 - 1
13-32911333-G-A c.2841G>A p.L947= Synonymous 11/27 - 1
13-32911334-G-A c.2842G>A p.V948I Missense 11/27 - 1
13-32911334-GT-G c.2845del p.Y949Mfs*11 Frameshift 11/27 - 4
13-32911337-T-TA c.2846dup p.Y949* Nonsense 11/27 - 1
13-32911340-G-C c.2848G>C p.V950L Missense 11/27 - 1
13-32911340-G-A c.2848G>A p.V950I Missense 11/27 - 2
13-32911343-C-A c.2851C>A p.L951I Missense 11/27 - 1
13-32911346-GCA-ATG c.2854_2856delinsATG p.A952M Missense 11/27 - 1
13-32911349-G-T c.2857G>T p.E953* Nonsense 11/27 - 1
13-32911352-G-T c.2860G>T p.E954* Nonsense 11/27 - 1
13-32911348-AGAG-A c.2860_2862del p.E954del InFrameDeletion 11/27 - 2
13-32911357-AC-A c.2865del p.N955Kfs*5 Frameshift 11/27 - 2
13-32911359-A-C c.2867A>C p.K956T Missense 11/27 - 1
13-32911360-A-AT c.2868_2869insT p.N957* Nonsense 11/27 - 1
13-32911357-CA-C c.2870del p.N957Ifs*3 Frameshift 11/27 - 1
13-32911372-AG-A c.2880del p.K960Nfs*4 Frameshift 11/27 - 1
13-32911375-G-A c.2883G>A p.Q961= Synonymous 11/27 - 4
13-32911379-A-G c.2887A>G p.I963V Missense 11/27 - 1
13-32911384-A-T c.2892A>T p.K964N Missense 11/27 - 4
13-32911387-G-C c.2895G>C p.M965I Missense 11/27 - 2
13-32911387-G-A c.2895G>A p.M965I Missense 11/27 - 2
13-32911387-G-T c.2895G>T p.M965I Missense 11/27 - 2
13-32911388-ACT-A c.2899_2900del p.L967Rfs*14 Frameshift 11/27 - 4
13-32911393-A-ACT c.2901_2902insCT p.G968Lfs*5 Frameshift 11/27 - 1
13-32911393-A-T c.2901A>T p.L967= Synonymous 11/27 - 1
13-32911393-A-G c.2901A>G p.L967= Synonymous 11/27 - 1
13-32911393-A-C c.2901A>C p.L967= Synonymous 11/27 - 1
13-32911391-C-T c.2899C>T p.L967= Synonymous 11/27 - 1
13-32911397-C-T c.2905C>T p.Q969* Nonsense 11/27 - 6
13-32911399-A-T c.2907A>T p.Q969H Missense 11/27 - 1
13-32911399-A-C c.2907A>C p.Q969H Missense 11/27 - 1
13-32911404-T-G c.2912T>G p.L971* Nonsense 11/27 - 1
13-32911404-T-C c.2912T>C p.L971S Missense 11/27 - 1
13-32911405-A-G c.2913A>G p.L971= Synonymous 11/27 - 1
13-32911406-A-T c.2914A>T p.K972* Nonsense 11/27 - 1
13-32911410-C-A c.2918C>A p.S973* Nonsense 11/27 - 1
13-32911411-G-A c.2919G>A p.S973= Synonymous 11/27 - 1
13-32911416-T-A c.2924T>A p.I975N Missense 11/27 - 1
13-32911416-T-C c.2924T>C p.I975T Missense 11/27 - 1
13-32911416-T-G c.2924T>G p.I975S Missense 11/27 - 2
13-32911418-T-A c.2926T>A p.S976T Missense 11/27 - 1
13-32911418-TC-AT c.2926_2927delinsAT p.S976I Missense 11/27 - 3
13-32911418-CT-C c.2926del p.S976Pfs*2 Frameshift 11/27 - 1
13-32911418-TC-T c.2928del p.L977* Frameshift 11/27 - 1
13-32911424-A-G c.2932A>G p.N978D Missense 11/27 - 1
13-32911426-T-G c.2934T>G p.N978K Missense 11/27 - 1
13-32911428-T-C c.2936T>C p.I979T Missense 11/27 - 1
13-32911429-TA-T c.2937del p.I979Mfs*12 Frameshift 11/27 - 1
13-32911436-A-C c.2944A>C p.I982L Missense 11/27 - 3
13-32911432-TA-T c.2944del p.I982Yfs*9 Frameshift 11/27 - 2
13-32911437-AT-A c.2945del p.I982Nfs*9 Frameshift 11/27 - 1
13-32911435-AAT-A c.2945_2946del p.I982Tfs*5 Frameshift 11/27 - 1
13-32911437-T-C c.2945T>C p.I982T Missense 11/27 - 1
13-32911438-A-G c.2946A>G p.I982M Missense 11/27 - 3
13-32911439-C-A c.2947C>A p.P983T Missense 11/27 - 1
13-32911440-C-A c.2948C>A p.P983Q Missense 11/27 - 1
13-32911442-G-A c.2950G>A p.E984K Missense 11/27 - 1
13-32911442-G-T c.2950G>T p.E984* Nonsense 11/27 - 1
13-32911443-A-G c.2951A>G p.E984G Missense 11/27 - 1
13-32911442-GAAAA-G c.2954_2957del p.K985Ifs*5 Frameshift 11/27 - 1
13-32911447-A-AT c.2955_2956insT p.N986* Nonsense 11/27 - 3
13-32911449-A-AG c.2957_2958insG p.N986Kfs*2 Frameshift 11/27 - 7
13-32911442-GA-G c.2957del p.N986Ifs*5 Frameshift 11/27 - 5
13-32911442-G-GA c.2957dup p.N986Kfs*2 Frameshift 11/27 - 3
13-32911449-A-G c.2957A>G p.N986S Missense 11/27 - 1
13-32911449-A-T c.2957A>T p.N986I Missense 11/27 - 1
13-32911447-AAAT-A c.2959_2961del p.N987del InFrameDeletion 11/27 - 1
13-32911452-A-T c.2960A>T p.N987I Missense 11/27 - 7
13-32911452-A-G c.2960A>G p.N987S Missense 11/27 - 1
13-32911453-AT-A c.2961del p.N987Kfs*4 Frameshift 11/27 - 1
13-32911455-A-G c.2963A>G p.D988G Missense 11/27 - 1
13-32911457-T-C c.2965T>C p.Y989H Missense 11/27 - 1
13-32911458-A-T c.2966A>T p.Y989F Missense 11/27 - 1
13-32911458-A-G c.2966A>G p.Y989C Missense 11/27 - 1
13-32911461-T-A c.2969T>A p.M990K Missense 11/27 - 1
13-32911462-G-GT c.2970_2971insT p.N991* Nonsense 11/27 - 1
13-32911462-G-T c.2970G>T p.M990I Missense 11/27 - 1
13-32911463-A-G c.2971A>G p.N991D Missense 11/27 - 83
13-32911464-A-G c.2972A>G p.N991S Missense 11/27 - 1
13-32911468-A-G c.2976A>G p.K992= Synonymous 11/27 - 1
13-32911471-G-A c.2979G>A p.W993* Nonsense 11/27 - 5
13-32911470-G-A c.2978G>A p.W993* Nonsense 11/27 - 2
13-32911470-G-C c.2978G>C p.W993S Missense 11/27 - 2
13-32911473-C-T c.2981C>T p.A994V Missense 11/27 - 1
13-32911475-G-T c.2983G>T p.G995* Nonsense 11/27 - 1
13-32911479-T-G c.2987T>G p.L996R Missense 11/27 - 1
13-32911481-T-TAA c.2989_2990insAA p.L997* Nonsense 11/27 - 1
13-32911482-T-G c.2990T>G p.L997* Nonsense 11/27 - 4
13-32911485-G-A c.2993G>A p.G998D Missense 11/27 - 3
13-32911485-GT-AG c.2993_2994delinsAG p.G998E Missense 11/27 - 2
13-32911488-C-T c.2996C>T p.P999L Missense 11/27 - 1
13-32911490-A-G c.2998A>G p.I1000V Missense 11/27 - 1
13-32911490-AT-A c.3001del p.S1001Qfs*42 Frameshift 11/27 - 1
13-32911494-C-A c.3002C>A p.S1001* Nonsense 11/27 - 2
13-32911494-C-G c.3002C>G p.S1001* Nonsense 11/27 - 2
13-32911497-A-C c.3005A>C p.N1002T Missense 11/27 - 1
13-32911499-C-G c.3007C>G p.H1003D Missense 11/27 - 3
13-32911503-G-A c.3011G>A p.S1004N Missense 11/27 - 1
13-32911504-T-C c.3012T>C p.S1004= Synonymous 11/27 - 1
13-32911503-GT-G c.3015del p.F1005Lfs*38 Frameshift 11/27 - 1
13-32911508-G-GC c.3016_3017insC p.G1006Afs*3 Frameshift 11/27 - 1
13-32911507-TGGAG-T c.3017_3020del p.G1006Vfs*36 Frameshift 11/27 - 2
13-32911510-GA-G c.3018del p.G1007Vfs*36 Frameshift 11/27 - 5
13-32911514-AG-GC c.3022_3023delinsGC p.S1008A Missense 11/27 - 1
13-32911515-G-A c.3023G>A p.S1008N Missense 11/27 - 1
13-32911520-A-G c.3028A>G p.R1010G Missense 11/27 - 1
13-32911521-G-A c.3029G>A p.R1010K Missense 11/27 - 1
13-32911523-A-G c.3031A>G p.T1011A Missense 11/27 - 1
13-32911524-C-G c.3032C>G p.T1011R Missense 11/27 - 10
13-32911526-AG-A c.3034del p.A1012Lfs*31 Frameshift 11/27 - 3
13-32911528-CTTCA-C c.3036_3039del p.S1013Ifs*29 Frameshift 11/27 - 2
13-32911530-C-G c.3038C>G p.S1013* Nonsense 11/27 - 1
13-32911532-A-G c.3040A>G p.N1014D Missense 11/27 - 1
13-32911533-A-G c.3041A>G p.N1014S Missense 11/27 - 2
13-32911530-CAAAT-C c.3041_3044del p.N1014Rfs*28 Frameshift 11/27 - 1
13-32911538-G-T c.3046G>T p.E1016* Nonsense 11/27 - 4
13-32911542-T-G c.3050T>G p.I1017S Missense 11/27 - 2
13-32911542-T-C c.3050T>C p.I1017T Missense 11/27 - 1
13-32911543-C-CG c.3051_3052insG p.K1018Efs*4 Frameshift 11/27 - 1
13-32911543-C-G c.3051C>G p.I1017M Missense 11/27 - 1
13-32911547-C-G c.3055C>G p.L1019V Missense 11/27 - 9
13-32911548-T-C c.3056T>C p.L1019P Missense 11/27 - 1
13-32911550-T-C c.3058T>C p.S1020P Missense 11/27 - 1
13-32911556-AC-A c.3064del p.H1022Ifs*21 Frameshift 11/27 - 1
13-32911559-AA-TT c.3067_3068inv p.N1023F Missense 11/27 - 1
13-32911558-T-TA c.3068dup p.N1023Kfs*3 Frameshift 11/27 - 4
13-32911557-ATAACAT-A c.3069_3074del p.N1023_I1024del InFrameDeletion 11/27 - 2
13-32911563-T-A c.3071T>A p.I1024N Missense 11/27 - 1
13-32911561-CATT-C c.3071_3073del p.I1024del InFrameDeletion 11/27 - 1
13-32911565-A-G c.3073A>G p.K1025E Missense 11/27 - 4
13-32911565-A-T c.3073A>T p.K1025* Nonsense 11/27 - 1
13-32911567-GA-TT c.3075_3076delinsTT p.K1025_K1026delinsN* MultiAAMissense 11/27 - 1
13-32911567-G-T c.3075G>T p.K1025N Missense 11/27 - 1
13-32911568-A-T c.3076A>T p.K1026* Nonsense 11/27 - 2
13-32911568-A-G c.3076A>G p.K1026E Missense 11/27 - 1
13-32911568-GAA-G c.3076_3077del p.K1026Efs*9 Frameshift 11/27 - 1
13-32911569-A-T c.3077A>T p.K1026M Missense 11/27 - 1
13-32911572-G-A c.3080G>A p.S1027N Missense 11/27 - 1
13-32911573-CA-C c.3085del p.M1029Cfs*14 Frameshift 11/27 - 1
13-32911578-AT-A c.3086del p.M1029Sfs*14 Frameshift 11/27 - 2
13-32911580-T-G c.3088T>G p.F1030V Missense 11/27 - 1
13-32911582-C-A c.3090C>A p.F1030L Missense 11/27 - 1
13-32911586-CAAA-C c.3094_3096del p.K1032del InFrameDeletion 11/27 - 1
13-32911587-A-T c.3095A>T p.K1032I Missense 11/27 - 1
13-32911584-TCAAAGATATTGAAGAA-T c.3096_3111del p.K1032Nfs*6 Frameshift 11/27 - 1
13-32911588-A-AT c.3096_3097insT p.D1033* Nonsense 11/27 - 1
13-32911588-AGATATTGAAGAACA-T c.3096_3110delinsT p.K1032Nfs*5 Frameshift 11/27 - 1
13-32911589-G-C c.3097G>C p.D1033H Missense 11/27 - 2
13-32911589-G-T c.3097G>T p.D1033Y Missense 11/27 - 1
13-32911590-A-T c.3098A>T p.D1033V Missense 11/27 - 1
13-32911589-GAT-G c.3100_3101del p.I1034* Frameshift 11/27 - 2
13-32911592-A-G c.3100A>G p.I1034V Missense 11/27 - 1
13-32911593-T-C c.3101T>C p.I1034T Missense 11/27 - 1
13-32911593-T-G c.3101T>G p.I1034S Missense 11/27 - 1
13-32911595-G-T c.3103G>T p.E1035* Nonsense 11/27 - 7
13-32911595-G-A c.3103G>A p.E1035K Missense 11/27 - 1
13-32911596-A-G c.3104A>G p.E1035G Missense 11/27 - 1
13-32911598-G-T c.3106G>T p.E1036* Nonsense 11/27 - 2
13-32911599-A-G c.3107A>G p.E1036G Missense 11/27 - 1
13-32911601-C-T c.3109C>T p.Q1037* Nonsense 11/27 - 61
13-32911601-C-A c.3109C>A p.Q1037K Missense 11/27 - 3
13-32911601-C-G c.3109C>G p.Q1037E Missense 11/27 - 1
13-32911598-GAAC-G c.3109_3111del p.Q1037del InFrameDeletion 11/27 - 1
13-32911601-CA-TC c.3109_3110delinsTC p.Q1037S Missense 11/27 - 1
13-32911601-CAA-TAT c.3109_3111delinsTAT p.Q1037Y Missense 11/27 - 1
13-32911605-A-G c.3113A>G p.Y1038C Missense 11/27 - 7
13-32911606-AT-A c.3114del p.P1039Lfs*4 Frameshift 11/27 - 1
13-32911606-T-A c.3114T>A p.Y1038* Nonsense 11/27 - 1
13-32911606-T-G c.3114T>G p.Y1038* Nonsense 11/27 - 1
13-32911617-T-A c.3125T>A p.L1042* Nonsense 11/27 - 1
13-32911617-T-G c.3125T>G p.L1042* Nonsense 11/27 - 1
13-32911620-C-G c.3128C>G p.A1043G Missense 11/27 - 1
13-32911623-G-T c.3131G>T p.C1044F Missense 11/27 - 1
13-32911624-T-G c.3132T>G p.C1044W Missense 11/27 - 1
13-32911624-T-C c.3132T>C p.C1044= Synonymous 11/27 - 1
13-32911628-G-C c.3136G>C p.E1046Q Missense 11/27 - 1
13-32911633-T-G c.3141T>G p.I1047M Missense 11/27 - 1
13-32911634-GTAAA-G c.3145_3148del p.N1049Pfs*4 Frameshift 11/27 - 1
13-32911646-GGCA-G c.3154_3156del p.A1052del InFrameDeletion 11/27 - 1
13-32911650-T-G c.3158T>G p.L1053* Nonsense 11/27 - 9
13-32911650-T-A c.3158T>A p.L1053* Nonsense 11/27 - 2
13-32911648-A-AT c.3158dup p.L1053Ffs*3 Frameshift 11/27 - 1
13-32911653-A-AT c.3162dup p.N1055* Nonsense 11/27 - 1
13-32911654-TAATC-T c.3165_3168del p.N1055Kfs*4 Frameshift 11/27 - 3
13-32911657-TCA-CC c.3165_3167delinsCC p.K1057Rfs*3 Frameshift 11/27 - 1
13-32911658-C-T c.3166C>T p.Q1056* Nonsense 11/27 - 7
13-32911659-CAAAA-C c.3167_3170del p.Q1056Rfs*3 Frameshift 11/27 - 4
13-32911660-A-AT c.3168_3169insT p.K1057* Nonsense 11/27 - 1
13-32911658-CAAA-C c.3168_3170del p.K1058del InFrameDeletion 11/27 - 1
13-32911661-A-T c.3169A>T p.K1057* Nonsense 11/27 - 1
13-32911658-CAAAAG-C c.3170_3174del p.K1057Tfs*8 Frameshift 11/27 - 18
13-32911662-A-G c.3170A>G p.K1057R Missense 11/27 - 2
13-32911663-G-A c.3171G>A p.K1057= Synonymous 11/27 - 1
13-32911664-A-G c.3172A>G p.K1058E Missense 11/27 - 1
13-32911665-A-G c.3173A>G p.K1058R Missense 11/27 - 1
13-32911667-C-A c.3175C>A p.L1059M Missense 11/27 - 1
13-32911667-CT-TA c.3175_3176delinsTA p.L1059* Nonsense 11/27 - 1
13-32911668-T-C c.3176T>C p.L1059P Missense 11/27 - 1
13-32911668-T-G c.3176T>G p.L1059R Missense 11/27 - 1
13-32911672-CA-C c.3182del p.K1061Sfs*16 Frameshift 11/27 - 2
13-32911676-C-T c.3184C>T p.P1062S Missense 11/27 - 1
13-32911679-C-T c.3187C>T p.Q1063* Nonsense 11/27 - 5
13-32911679-C-A c.3187C>A p.Q1063K Missense 11/27 - 1
13-32911677-CTCAG-C c.3189_3192del p.S1064Lfs*12 Frameshift 11/27 - 4
13-32911683-C-A c.3191C>A p.S1064* Nonsense 11/27 - 2
13-32911683-CAATT-C c.3195_3198del p.N1066Lfs*10 Frameshift 11/27 - 14
13-32911685-AT-A c.3195del p.N1066Ifs*11 Frameshift 11/27 - 1
13-32911687-T-TA c.3197dup p.N1066Kfs*10 Frameshift 11/27 - 1
13-32911691-TA-T c.3199del p.T1067Lfs*10 Frameshift 11/27 - 2
13-32911691-A-G c.3199A>G p.T1067A Missense 11/27 - 1
13-32911691-A-T c.3199A>T p.T1067S Missense 11/27 - 1
13-32911694-G-A c.3202G>A p.V1068I Missense 11/27 - 1
13-32911694-TG-T c.3202del p.V1068Yfs*9 Frameshift 11/27 - 1
13-32911695-T-C c.3203T>C p.V1068A Missense 11/27 - 2
13-32911697-ATCT-A c.3205_3207del p.S1069del InFrameDeletion 11/27 - 1
13-32911698-C-T c.3206C>T p.S1069F Missense 11/27 - 1
13-32911703-C-T c.3211C>T p.H1071Y Missense 11/27 - 1
13-32911706-TT-AC c.3214_3215delinsAC p.L1072T Missense 11/27 - 1
13-32911707-T-G c.3215T>G p.L1072* Nonsense 11/27 - 1
13-32911709-C-T c.3217C>T p.Q1073* Nonsense 11/27 - 4
13-32911710-CA-C c.3218del p.Q1073Rfs*4 Frameshift 11/27 - 1
13-32911710-A-G c.3218A>G p.Q1073R Missense 11/27 - 3
13-32911712-A-T c.3220A>T p.S1074C Missense 11/27 - 4
13-32911716-G-T c.3224G>T p.S1075I Missense 11/27 - 1
13-32911715-AGT-A c.3226_3227del p.V1076Sfs*4 Frameshift 11/27 - 1
13-32911719-T-C c.3227T>C p.V1076A Missense 11/27 - 2
13-32911720-TAG-T c.3228_3229del p.V1077Cfs*3 Frameshift 11/27 - 8
13-32911725-T-C c.3233T>C p.V1078A Missense 11/27 - 1
13-32911724-GT-G c.3235del p.S1079Lfs*8 Frameshift 11/27 - 2
13-32911731-A-C c.3239A>C p.D1080A Missense 11/27 - 1
13-32911739-A-G c.3247A>G p.N1083D Missense 11/27 - 1
13-32911746-A-G c.3254A>G p.H1085R Missense 11/27 - 1
13-32911748-A-G c.3256A>G p.I1086V Missense 11/27 - 2
13-32911748-A-T c.3256A>T p.I1086L Missense 11/27 - 1
13-32911749-T-G c.3257T>G p.I1086R Missense 11/27 - 1
13-32911749-AT-A c.3257del p.I1086Kfs*18 Frameshift 11/27 - 2
13-32911745-CAT-C c.3257_3258del p.I1086Nfs*12 Frameshift 11/27 - 1
13-32911747-TATAACCCCTCAGATGTTATTTTCCAAGCAGGATTTTA-T c.3258_3294del p.T1087Qfs*5 Frameshift 11/27 - 1
13-32911754-C-T c.3262C>T p.P1088S Missense 11/27 - 2
13-32911751-A-AC c.3263dup p.Q1089Sfs*10 Frameshift 11/27 - 1
13-32911755-C-CT c.3264dup p.Q1089Sfs*10 Frameshift 11/27 - 24
13-32911755-C-CTT c.3264_3265insTT p.Q1089Ffs*16 Frameshift 11/27 - 2
13-32911756-T-C c.3264T>C p.P1088= Synonymous 11/27 - 3
13-32911756-T-G c.3264T>G p.P1088= Synonymous 11/27 - 1
13-32911756-T-A c.3264T>A p.P1088= Synonymous 11/27 - 1
13-32911757-C-T c.3265C>T p.Q1089* Nonsense 11/27 - 5
13-32911757-C-G c.3265C>G p.Q1089E Missense 11/27 - 1
13-32911758-CA-C c.3266del p.Q1089Rfs*15 Frameshift 11/27 - 1
13-32911760-A-G c.3268A>G p.M1090V Missense 11/27 - 1
13-32911761-AT-A c.3269del p.M1090Sfs*14 Frameshift 11/27 - 2
13-32911762-G-A c.3270G>A p.M1090I Missense 11/27 - 1
13-32911762-G-C c.3270G>C p.M1090I Missense 11/27 - 1
13-32911762-TG-T c.3270del p.M1090Ifs*14 Frameshift 11/27 - 1
13-32911769-T-C c.3277T>C p.S1093P Missense 11/27 - 1
13-32911773-AAG-A c.3281_3282del p.K1094Tfs*4 Frameshift 11/27 - 1
13-32911771-CA-C c.3281del p.K1094Sfs*10 Frameshift 11/27 - 1
13-32911778-G-A c.3286G>A p.D1096N Missense 11/27 - 3
13-32911776-AG-A c.3286del p.D1096Ifs*8 Frameshift 11/27 - 2
13-32911786-T-C c.3294T>C p.N1098= Synonymous 11/27 - 1
13-32911788-C-A c.3296C>A p.S1099* Nonsense 11/27 - 3
13-32911788-C-G c.3296C>G p.S1099* Nonsense 11/27 - 3
13-32911790-AAAC-A c.3298_3300del p.N1100del InFrameDeletion 11/27 - 1
13-32911791-A-C c.3299A>C p.N1100T Missense 11/27 - 1
13-32911794-A-G c.3302A>G p.H1101R Missense 11/27 - 3
13-32911796-A-T c.3304A>T p.N1102Y Missense 11/27 - 3
13-32911797-A-G c.3305A>G p.N1102S Missense 11/27 - 1
13-32911797-A-ATGTCGTGC c.3306_3307insGTCGTGCT p.L1103Vfs*4 Frameshift 11/27 - 1
13-32911799-T-C c.3307T>C p.L1103= Synonymous 11/27 - 1
13-32911801-A-G c.3309A>G p.L1103= Synonymous 11/27 - 1
13-32911799-T-G c.3307T>G p.L1103V Missense 11/27 - 1
13-32911800-T-TA c.3310dup p.T1104Nfs*3 Frameshift 11/27 - 1
13-32911802-A-C c.3310A>C p.T1104P Missense 11/27 - 1
13-32911807-T-G c.3315T>G p.P1105= Synonymous 11/27 - 1
13-32911807-T-A c.3315T>A p.P1105= Synonymous 11/27 - 1
13-32911807-T-C c.3315T>C p.P1105= Synonymous 11/27 - 1
13-32911808-AG-GC c.3316_3317delinsGC p.S1106A Missense 11/27 - 1
13-32911808-AG-GA c.3316_3317delinsGA p.S1106D Missense 11/27 - 1
13-32911808-A-G c.3316A>G p.S1106G Missense 11/27 - 1
13-32911810-C-G c.3318C>G p.S1106R Missense 11/27 - 4
13-32911810-C-A c.3318C>A p.S1106R Missense 11/27 - 2
13-32911808-A-C c.3316A>C p.S1106R Missense 11/27 - 1
13-32911811-C-T c.3319C>T p.Q1107* Nonsense 11/27 - 1
13-32911813-A-C c.3321A>C p.Q1107H Missense 11/27 - 2
13-32911814-A-T c.3322A>T p.K1108* Nonsense 11/27 - 2
13-32911811-CA-C c.3323del p.K1108Rfs*11 Frameshift 11/27 - 2
13-32911817-G-T c.3325G>T p.A1109S Missense 11/27 - 1
13-32911818-C-T c.3326C>T p.A1109V Missense 11/27 - 2
13-32911820-G-A c.3328G>A p.E1110K Missense 11/27 - 1
13-32911821-A-T c.3329A>T p.E1110V Missense 11/27 - 2
13-32911821-A-G c.3329A>G p.E1110G Missense 11/27 - 1
13-32911821-A-C c.3329A>C p.E1110A Missense 11/27 - 1
13-32911821-AAATT-A c.3331_3334del p.I1111Qfs*7 Frameshift 11/27 - 2
13-32911823-A-G c.3331A>G p.I1111V Missense 11/27 - 1
13-32911820-G-GA c.3331dup p.I1111Nfs*16 Frameshift 11/27 - 1
13-32911824-T-C c.3332T>C p.I1111T Missense 11/27 - 1
13-32911825-T-C c.3333T>C p.I1111= Synonymous 11/27 - 1
13-32911825-T-A c.3333T>A p.I1111= Synonymous 11/27 - 1
13-32911827-CAGA-C c.3337_3339del p.E1113del InFrameDeletion 11/27 - 1
13-32911829-G-T c.3337G>T p.E1113* Nonsense 11/27 - 2
13-32911829-G-A c.3337G>A p.E1113K Missense 11/27 - 1
13-32911829-GA-G c.3339del p.E1113Dfs*6 Frameshift 11/27 - 1
13-32911832-C-G c.3340C>G p.L1114V Missense 11/27 - 1
13-32911832-CT-GC c.3340_3341delinsGC p.L1114A Missense 11/27 - 1
13-32911832-CT-C c.3343del p.S1115Lfs*4 Frameshift 11/27 - 1
13-32911835-T-C c.3343T>C p.S1115P Missense 11/27 - 1
13-32911836-C-G c.3344C>G p.S1115C Missense 11/27 - 1
13-32911837-CT-C c.3345del p.T1116Lfs*3 Frameshift 11/27 - 1
13-32911838-A-C c.3346A>C p.T1116P Missense 11/27 - 1
13-32911841-A-G c.3349A>G p.I1117V Missense 11/27 - 3
13-32911842-T-C c.3350T>C p.I1117T Missense 11/27 - 1
13-32911845-T-A c.3353T>A p.L1118* Nonsense 11/27 - 1
13-32911845-T-G c.3353T>G p.L1118* Nonsense 11/27 - 1
13-32911847-G-C c.3355G>C p.E1119Q Missense 11/27 - 1
13-32911850-G-T c.3358G>T p.E1120* Nonsense 11/27 - 1
13-32911850-G-C c.3358G>C p.E1120Q Missense 11/27 - 1
13-32911854-C-G c.3362C>G p.S1121* Nonsense 11/27 - 6
13-32911854-C-A c.3362C>A p.S1121* Nonsense 11/27 - 2
13-32911854-C-T c.3362C>T p.S1121L Missense 11/27 - 1
13-32911856-G-T c.3364G>T p.G1122* Nonsense 11/27 - 1
13-32911855-AG-A c.3365del p.G1122Efs*28 Frameshift 11/27 - 1
13-32911857-G-A c.3365G>A p.G1122E Missense 11/27 - 1
13-32911859-AG-GC c.3367_3368delinsGC p.S1123A Missense 11/27 - 1
13-32911859-AG-GA c.3367_3368delinsGA p.S1123D Missense 11/27 - 1
13-32911862-C-T c.3370C>T p.Q1124* Nonsense 11/27 - 2
13-32911862-C-G c.3370C>G p.Q1124E Missense 11/27 - 1
13-32911863-A-G c.3371A>G p.Q1124R Missense 11/27 - 1
13-32911864-G-T c.3372G>T p.Q1124H Missense 11/27 - 1
13-32911864-G-C c.3372G>C p.Q1124H Missense 11/27 - 1
13-32911868-G-A c.3376G>A p.E1126K Missense 11/27 - 2
13-32911870-A-T c.3378A>T p.E1126D Missense 11/27 - 1
13-32911870-AT-A c.3381del p.F1127Lfs*23 Frameshift 11/27 - 10
13-32911874-A-G c.3382A>G p.T1128A Missense 11/27 - 2
13-32911874-AC-GA c.3382_3383delinsGA p.T1128D Missense 11/27 - 1
13-32911875-C-T c.3383C>T p.T1128I Missense 11/27 - 1
13-32911876-T-TA c.3384_3385insA p.Q1129Tfs*3 Frameshift 11/27 - 1
13-32911877-C-T c.3385C>T p.Q1129* Nonsense 11/27 - 1
13-32911886-A-G c.3394A>G p.K1132E Missense 11/27 - 1
13-32911887-A-G c.3395A>G p.K1132R Missense 11/27 - 3
13-32911888-A-C c.3396A>C p.K1132N Missense 11/27 - 19
13-32911888-A-G c.3396A>G p.K1132= Synonymous 11/27 - 59
13-32911884-GA-G c.3396del p.K1132Nfs*18 Frameshift 11/27 - 1
13-32911888-AC-A c.3398del p.P1133Qfs*17 Frameshift 11/27 - 2
13-32911892-A-T c.3400A>T p.S1134C Missense 11/27 - 1
13-32911897-C-A c.3405C>A p.Y1135* Nonsense 11/27 - 2
13-32911899-T-TA c.3408dup p.L1137Ifs*7 Frameshift 11/27 - 2
13-32911906-G-A c.3414G>A p.Q1138= Synonymous 11/27 - 1
13-32911906-GA-G c.3416del p.K1139Rfs*11 Frameshift 11/27 - 1
13-32911908-AGAGTACATTTG-C c.3416_3427delinsC p.K1139Tfs*4 Frameshift 11/27 - 1
13-32911910-A-G c.3418A>G p.S1140G Missense 11/27 - 1
13-32911912-T-A c.3420T>A p.S1140R Missense 11/27 - 2
13-32911912-T-C c.3420T>C p.S1140= Synonymous 11/27 - 1
13-32911911-G-GT c.3420dup p.T1141Yfs*3 Frameshift 11/27 - 1
13-32911914-C-T c.3422C>T p.T1141I Missense 11/27 - 1
13-32911917-T-C c.3425T>C p.F1142S Missense 11/27 - 1
13-32911922-AGTGCCTGAAAACCAGATGACT-A c.3430_3450del p.V1144_T1150del InFrameDeletion 11/27 - 1
13-32911925-CCT-TAA c.3433_3435delinsTAA p.P1145* Nonsense 11/27 - 1
13-32911927-T-G c.3435T>G p.P1145= Synonymous 11/27 - 1
13-32911927-T-A c.3435T>A p.P1145= Synonymous 11/27 - 1
13-32911927-T-C c.3435T>C p.P1145= Synonymous 11/27 - 1
13-32911928-TGAAA-T c.3436_3439del p.E1146Tfs*3 Frameshift 11/27 - 2
13-32911928-G-T c.3436G>T p.E1146* Nonsense 11/27 - 2
13-32911935-A-G c.3443A>G p.Q1148R Missense 11/27 - 1
13-32911937-A-G c.3445A>G p.M1149V Missense 11/27 - 7
13-32911939-G-A c.3447G>A p.M1149I Missense 11/27 - 2
13-32911940-A-T c.3448A>T p.T1150S Missense 11/27 - 1
13-32911942-T-A c.3450T>A p.T1150= Synonymous 11/27 - 1
13-32911942-T-G c.3450T>G p.T1150= Synonymous 11/27 - 1
13-32911942-T-C c.3450T>C p.T1150= Synonymous 11/27 - 1
13-32911946-T-C c.3454T>C p.L1152= Synonymous 11/27 - 1
13-32911948-A-G c.3456A>G p.L1152= Synonymous 11/27 - 1
13-32911947-T-G c.3455T>G p.L1152* Nonsense 11/27 - 3
13-32911953-C-G c.3461C>G p.T1154S Missense 11/27 - 1
13-32911952-A-T c.3460A>T p.T1154S Missense 11/27 - 1
13-32911954-C-T c.3462C>T p.T1154= Synonymous 11/27 - 2
13-32911954-C-G c.3462C>G p.T1154= Synonymous 11/27 - 2
13-32911957-T-C c.3465T>C p.T1155= Synonymous 11/27 - 1
13-32911961-G-T c.3469G>T p.E1157* Nonsense 11/27 - 1
13-32911962-AG-A c.3472del p.E1158Nfs*10 Frameshift 11/27 - 1
13-32911968-G-A c.3476G>A p.C1159Y Missense 11/27 - 2
13-32911968-TG-T c.3476del p.C1159Sfs*9 Frameshift 11/27 - 1
13-32911969-C-T c.3477C>T p.C1159= Synonymous 11/27 - 1
13-32911970-A-G c.3478A>G p.R1160G Missense 11/27 - 3
13-32911971-G-A c.3479G>A p.R1160K Missense 11/27 - 6
13-32911973-AGATGCTGATCT-A c.3481_3491del p.D1161Sfs*19 Frameshift 11/27 - 3
13-32911973-G-A c.3481G>A p.D1161N Missense 11/27 - 1
13-32911973-G-T c.3481G>T p.D1161Y Missense 11/27 - 1
13-32911973-G-GAA c.3482_3483insAA p.D1161Efs*8 Frameshift 11/27 - 1
13-32911976-G-A c.3484G>A p.A1162T Missense 11/27 - 1
13-32911977-GC-G c.3485del p.A1162Vfs*6 Frameshift 11/27 - 1
13-32911977-C-T c.3485C>T p.A1162V Missense 11/27 - 1
13-32911979-TG-T c.3487del p.D1163Ifs*5 Frameshift 11/27 - 3
13-32911979-G-A c.3487G>A p.D1163N Missense 11/27 - 1
13-32911979-GA-AT c.3487_3488delinsAT p.D1163I Missense 11/27 - 1
13-32911977-CTGATCTTCATGTCATAATGAATGCCCCATCGATTGGTCAGGTAGACAGCAGCAAGCAAT-C c.3487_3545del p.D1163* Frameshift 11/27 - 1
13-32911982-C-CT c.3492dup p.H1165Sfs*19 Frameshift 11/27 - 1
13-32911989-T-A c.3497T>A p.V1166D Missense 11/27 - 1
13-32911991-A-G c.3499A>G p.I1167V Missense 11/27 - 1
13-32911990-CAT-C c.3500_3501del p.I1167Nfs*16 Frameshift 11/27 - 1
13-32911996-G-C c.3504G>C p.M1168I Missense 11/27 - 1
13-32911996-G-A c.3504G>A p.M1168I Missense 11/27 - 1
13-32911996-G-T c.3504G>T p.M1168I Missense 11/27 - 3
13-32912000-G-A c.3508G>A p.A1170T Missense 11/27 - 1
13-32912000-G-C c.3508G>C p.A1170P Missense 11/27 - 1
13-32912001-C-T c.3509C>T p.A1170V Missense 11/27 - 6
13-32912002-C-T c.3510C>T p.A1170= Synonymous 11/27 - 1
13-32912004-C-T c.3512C>T p.P1171L Missense 11/27 - 1
13-32912007-C-G c.3515C>G p.S1172W Missense 11/27 - 2
13-32912007-C-T c.3515C>T p.S1172L Missense 11/27 - 15
13-32912007-C-A c.3515C>A p.S1172* Nonsense 11/27 - 1
13-32912008-G-A c.3516G>A p.S1172= Synonymous 11/27 - 4
13-32912008-G-T c.3516G>T p.S1172= Synonymous 11/27 - 4
13-32912008-G-C c.3516G>C p.S1172= Synonymous 11/27 - 2
13-32912009-A-T c.3517A>T p.I1173F Missense 11/27 - 1
13-32912011-TTGGTC-T c.3519_3523del p.Q1175Rfs*7 Frameshift 11/27 - 1
13-32912011-T-G c.3519T>G p.I1173M Missense 11/27 - 1
13-32912013-G-T c.3521G>T p.G1174V Missense 11/27 - 1
13-32912015-C-T c.3523C>T p.Q1175* Nonsense 11/27 - 1
13-32912018-G-T c.3526G>T p.V1176L Missense 11/27 - 1
13-32912016-A-AG c.3526dup p.V1176Gfs*8 Frameshift 11/27 - 1
13-32912018-G-A c.3526G>A p.V1176I Missense 11/27 - 1
13-32912019-T-C c.3527T>C p.V1176A Missense 11/27 - 1
13-32912019-TAGAC-T c.3530_3533del p.D1177Afs*19 Frameshift 11/27 - 2
13-32912023-C-G c.3531C>G p.D1177E Missense 11/27 - 1
13-32912025-G-T c.3533G>T p.S1178I Missense 11/27 - 1
13-32912028-G-A c.3536G>A p.S1179N Missense 11/27 - 2
13-32912029-C-T c.3537C>T p.S1179= Synonymous 11/27 - 1
13-32912030-A-C c.3538A>C p.K1180Q Missense 11/27 - 1
13-32912031-A-G c.3539A>G p.K1180R Missense 11/27 - 1
13-32912032-G-A c.3540G>A p.K1180= Synonymous 11/27 - 1
13-32912033-C-T c.3541C>T p.Q1181* Nonsense 11/27 - 1
13-32912035-ATT-A c.3545_3546del p.F1182* Frameshift 11/27 - 18
13-32912039-G-C c.3547G>C p.E1183Q Missense 11/27 - 1
13-32912040-A-G c.3548A>G p.E1183G Missense 11/27 - 9
13-32912043-G-C c.3551G>C p.G1184A Missense 11/27 - 1
13-32912049-T-A c.3557T>A p.V1186D Missense 11/27 - 1
13-32912050-T-A c.3558T>A p.V1186= Synonymous 11/27 - 1
13-32912051-G-T c.3559G>T p.E1187* Nonsense 11/27 - 1
13-32912054-A-G c.3562A>G p.I1188V Missense 11/27 - 1
13-32912057-A-G c.3565A>G p.K1189E Missense 11/27 - 1
13-32912060-C-T c.3568C>T p.R1190W Missense 11/27 - 9
13-32912061-G-A c.3569G>A p.R1190Q Missense 11/27 - 3
13-32912061-G-T c.3569G>T p.R1190L Missense 11/27 - 1
13-32912060-CG-C c.3570del p.K1191Sfs*6 Frameshift 11/27 - 1
13-32912067-T-G c.3575T>G p.F1192C Missense 11/27 - 4
13-32912073-G-A c.3581G>A p.G1194D Missense 11/27 - 6
13-32912073-G-T c.3581G>T p.G1194V Missense 11/27 - 1
13-32912073-GC-G c.3583del p.L1195Cfs*2 Frameshift 11/27 - 1
13-32912079-T-A c.3587T>A p.L1196* Nonsense 11/27 - 1
13-32912085-A-G c.3593A>G p.N1198S Missense 11/27 - 1
13-32912087-G-T c.3595G>T p.D1199Y Missense 11/27 - 1
13-32912085-ATGAC-A c.3596_3599del p.D1199Vfs*9 Frameshift 11/27 - 2
13-32912089-C-CTAA c.3598_3599insAAT p.D1199_C1200ins* InFrameInsertion 11/27 - 1
13-32912090-T-TA c.3598_3599insA p.C1200* Nonsense 11/27 - 2
13-32912089-CTG-C c.3599_3600del p.C1200* Frameshift 11/27 - 25
13-32912092-GT-G c.3600del p.C1200* Frameshift 11/27 - 1
13-32912092-T-A c.3600T>A p.C1200* Nonsense 11/27 - 1
13-32912093-A-G c.3601A>G p.N1201D Missense 11/27 - 1
13-32912095-C-CT c.3603_3604insT p.K1202* Nonsense 11/27 - 1
13-32912095-C-A c.3603C>A p.N1201K Missense 11/27 - 1
13-32912096-A-T c.3604A>T p.K1202* Nonsense 11/27 - 1
13-32912095-CAA-C c.3606_3607del p.S1203Cfs*8 Frameshift 11/27 - 1
13-32912106-C-A c.3614C>A p.S1205Y Missense 11/27 - 1
13-32912109-G-T c.3617G>T p.G1206V Missense 11/27 - 1
13-32912109-GT-AG c.3617_3618delinsAG p.G1206E Missense 11/27 - 1
13-32912112-A-AT c.3623dup p.L1208Ffs*4 Frameshift 11/27 - 1
13-32912116-A-G c.3624A>G p.L1208= Synonymous 11/27 - 1
13-32912118-C-CA c.3627dup p.D1210Rfs*2 Frameshift 11/27 - 6
13-32912119-A-G c.3627A>G p.T1209= Synonymous 11/27 - 1
13-32912119-A-T c.3627A>T p.T1209= Synonymous 11/27 - 1
13-32912119-A-C c.3627A>C p.T1209= Synonymous 11/27 - 1
13-32912118-CAG-C c.3628_3629del p.D1210* Frameshift 11/27 - 1
13-32912123-G-T c.3631G>T p.E1211* Nonsense 11/27 - 1
13-32912120-GATGAAA-G c.3634_3639del p.N1212_E1213del InFrameDeletion 11/27 - 1
13-32912123-GA-G c.3635del p.N1212Mfs*16 Frameshift 11/27 - 1
13-32912129-G-T c.3637G>T p.E1213* Nonsense 11/27 - 1
13-32912129-G-C c.3637G>C p.E1213Q Missense 11/27 - 1
13-32912131-A-C c.3639A>C p.E1213D Missense 11/27 - 1
13-32912131-AAGTGGGGTTTAGGG-A c.3639_3652del p.V1214Lfs*14 Frameshift 11/27 - 1
13-32912132-G-T c.3640G>T p.V1214L Missense 11/27 - 1
13-32912134-G-T c.3642G>T p.V1214= Synonymous 11/27 - 1
13-32912135-G-C c.3643G>C p.G1215R Missense 11/27 - 1
13-32912135-G-A c.3643G>A p.G1215R Missense 11/27 - 1
13-32912137-GT-G c.3648del p.F1216Lfs*12 Frameshift 11/27 - 1
13-32912140-T-TA c.3649dup p.R1217Kfs*16 Frameshift 11/27 - 1
13-32912142-G-A c.3650G>A p.R1217K Missense 11/27 - 1
13-32912144-GGC-AAG c.3652_3654delinsAAG p.G1218K Missense 11/27 - 1
13-32912144-G-C c.3652G>C p.G1218R Missense 11/27 - 1
13-32912147-T-C c.3655T>C p.F1219L Missense 11/27 - 1
13-32912149-T-A c.3657T>A p.F1219L Missense 11/27 - 1
13-32912149-T-G c.3657T>G p.F1219L Missense 11/27 - 1
13-32912147-T-G c.3655T>G p.F1219V Missense 11/27 - 1
13-32912153-T-C c.3661T>C p.S1221P Missense 11/27 - 2
13-32912154-C-T c.3662C>T p.S1221F Missense 11/27 - 1
13-32912154-C-A c.3662C>A p.S1221Y Missense 11/27 - 1
13-32912156-TG-T c.3664del p.A1222Lfs*6 Frameshift 11/27 - 1
13-32912159-C-A c.3667C>A p.H1223N Missense 11/27 - 1
13-32912160-A-G c.3668A>G p.H1223R Missense 11/27 - 1
13-32912163-G-A c.3671G>A p.G1224D Missense 11/27 - 3
13-32912167-A-G c.3675A>G p.T1225= Synonymous 11/27 - 1
13-32912167-A-T c.3675A>T p.T1225= Synonymous 11/27 - 1
13-32912167-A-C c.3675A>C p.T1225= Synonymous 11/27 - 1
13-32912168-A-C c.3676A>C p.K1226Q Missense 11/27 - 1
13-32912169-A-C c.3677A>C p.K1226T Missense 11/27 - 1
13-32912166-C-CA c.3678dup p.L1227Tfs*6 Frameshift 11/27 - 1
13-32912172-CTG-C c.3680_3681del p.L1227Qfs*5 Frameshift 11/27 - 13
13-32912174-A-G c.3682A>G p.N1228D Missense 11/27 - 6
13-32912171-CTGAA-C c.3682_3685del p.N1228Ffs*10 Frameshift 11/27 - 1
13-32912175-A-G c.3683A>G p.N1228S Missense 11/27 - 1
13-32912177-TG-T c.3685del p.V1229Ffs*10 Frameshift 11/27 - 1
13-32912177-G-A c.3685G>A p.V1229I Missense 11/27 - 1
13-32912181-TC-T c.3689del p.S1230Lfs*9 Frameshift 11/27 - 2
13-32912181-C-T c.3689C>T p.S1230F Missense 11/27 - 1
13-32912185-T-C c.3693T>C p.T1231= Synonymous 11/27 - 1
13-32912189-G-A c.3697G>A p.A1233T Missense 11/27 - 1
13-32912190-C-T c.3698C>T p.A1233V Missense 11/27 - 2
13-32912192-TCTGCA-T c.3700_3704del p.L1234Kfs*7 Frameshift 11/27 - 4
13-32912192-C-G c.3700C>G p.L1234V Missense 11/27 - 1
13-32912195-C-CA c.3708dup p.A1237Sfs*6 Frameshift 11/27 - 1
13-32912206-GAA-G c.3716_3717del p.K1239Tfs*3 Frameshift 11/27 - 4
13-32912206-GA-G c.3717del p.K1239Nfs*20 Frameshift 11/27 - 2
13-32912206-G-GA c.3717dup p.L1240Tfs*3 Frameshift 11/27 - 1
13-32912210-C-A c.3718C>A p.L1240M Missense 11/27 - 1
13-32912210-C-T c.3718C>T p.L1240= Synonymous 11/27 - 1
13-32912211-T-C c.3719T>C p.L1240P Missense 11/27 - 1
13-32912210-CTGTT-C c.3720_3723del p.F1241Vfs*17 Frameshift 11/27 - 1
13-32912210-CTG-C c.3720_3721del p.F1241* Frameshift 11/27 - 1
13-32912213-T-C c.3721T>C p.F1241L Missense 11/27 - 2
13-32912215-T-A c.3723T>A p.F1241L Missense 11/27 - 2
13-32912215-T-G c.3723T>G p.F1241L Missense 11/27 - 3
13-32912215-TAG-AT c.3723_3725delinsAT p.F1241Lfs*18 Frameshift 11/27 - 1
13-32912212-GT-G c.3723del p.F1241Lfs*18 Frameshift 11/27 - 1
13-32912219-G-A c.3727G>A p.D1243N Missense 11/27 - 1
13-32912225-G-C c.3733G>C p.E1245Q Missense 11/27 - 1
13-32912225-G-A c.3733G>A p.E1245K Missense 11/27 - 1
13-32912231-A-AT c.3741dup p.S1248* Nonsense 11/27 - 1
13-32912235-G-A c.3743G>A p.S1248N Missense 11/27 - 1
13-32912233-TAGTG-T c.3744_3747del p.S1248Rfs*10 Frameshift 11/27 - 23
13-32912237-G-T c.3745G>T p.E1249* Nonsense 11/27 - 1
13-32912237-G-GA c.3746dup p.E1250Gfs*15 Frameshift 11/27 - 1
13-32912238-A-G c.3746A>G p.E1249G Missense 11/27 - 1
13-32912240-G-T c.3748G>T p.E1250* Nonsense 11/27 - 6
13-32912241-A-G c.3749A>G p.E1250G Missense 11/27 - 1
13-32912240-G-GA c.3751dup p.T1251Nfs*14 Frameshift 11/27 - 4
13-32912248-CTGCA-C c.3756_3759del p.A1253Rfs*5 Frameshift 11/27 - 1
13-32912249-G-A c.3757G>A p.A1253T Missense 11/27 - 1
13-32912250-C-CA c.3759dup p.E1254Rfs*11 Frameshift 11/27 - 1
13-32912252-G-T c.3760G>T p.E1254* Nonsense 11/27 - 1
13-32912254-G-T c.3762G>T p.E1254D Missense 11/27 - 1
13-32912255-G-T c.3763G>T p.V1255L Missense 11/27 - 1
13-32912258-C-T c.3766C>T p.H1256Y Missense 11/27 - 1
13-32912259-A-T c.3767A>T p.H1256L Missense 11/27 - 1
13-32912261-C-T c.3769C>T p.P1257S Missense 11/27 - 1
13-32912262-C-A c.3770C>A p.P1257Q Missense 11/27 - 1
13-32912262-CCA-C c.3770_3771del p.P1257Hfs*7 Frameshift 11/27 - 1
13-32912262-C-T c.3770C>T p.P1257L Missense 11/27 - 1
13-32912274-C-G c.3782C>G p.S1261C Missense 11/27 - 2
13-32912277-C-A c.3785C>A p.S1262* Nonsense 11/27 - 1
13-32912277-C-G c.3785C>G p.S1262* Nonsense 11/27 - 3
13-32912285-T-A c.3793T>A p.C1265S Missense 11/27 - 3
13-32912285-T-C c.3793T>C p.C1265R Missense 11/27 - 1
13-32912286-G-C c.3794G>C p.C1265S Missense 11/27 - 1
13-32912286-G-T c.3794G>T p.C1265F Missense 11/27 - 2
13-32912287-GT-G c.3795del p.H1266Mfs*10 Frameshift 11/27 - 1
13-32912298-T-A c.3806T>A p.V1269D Missense 11/27 - 1
13-32912299-T-G c.3807T>G p.V1269= Synonymous 11/27 - 45
13-32912299-T-C c.3807T>C p.V1269= Synonymous 11/27 - 54
13-32912299-T-A c.3807T>A p.V1269= Synonymous 11/27 - 2
13-32912304-CA-C c.3814del p.M1272Cfs*4 Frameshift 11/27 - 1
13-32912308-GT-G c.3819del p.F1273Lfs*3 Frameshift 11/27 - 1
13-32912310-TTAAGA-T c.3821_3825del p.K1274Rfs*4 Frameshift 11/27 - 1
13-32912315-A-G c.3823A>G p.I1275V Missense 11/27 - 2
13-32912317-A-G c.3825A>G p.I1275M Missense 11/27 - 2
13-32912318-G-T c.3826G>T p.E1276* Nonsense 11/27 - 2
13-32912313-AGATAGAAAATCATAAT-A c.3826_3841del p.E1276Kfs*3 Frameshift 11/27 - 1
13-32912324-CAT-C c.3834_3835del p.H1278Qfs*2 Frameshift 11/27 - 1
13-32912326-TA-T c.3836del p.N1279Mfs*5 Frameshift 11/27 - 2
13-32912324-CATAATGATAAAACTGTAAGTGAAAAAA-C c.3838_3864del p.D1280_N1288del InFrameDeletion 11/27 - 1
13-32912331-A-T c.3839A>T p.D1280V Missense 11/27 - 5
13-32912332-TAAAA-GGCG c.3840_3844delinsGGCG p.D1280Efs*4 Frameshift 11/27 - 1
13-32912332-TAAA-GGC c.3840_3843delinsGGC p.D1280Efs*4 Frameshift 11/27 - 2
13-32912334-AAACTGT-A c.3845_3850del p.T1282_V1283del InFrameDeletion 11/27 - 1
13-32912337-CTG-C c.3847_3848del p.V1283Kfs*2 Frameshift 11/27 - 64
13-32912339-TG-T c.3847del p.V1283* Frameshift 11/27 - 2
13-32912343-G-GT c.3852dup p.E1285* Nonsense 11/27 - 1
13-32912350-A-AT c.3858_3859insT p.N1287* Nonsense 11/27 - 1
13-32912345-GAAA-G c.3858_3860del p.K1286del InFrameDeletion 11/27 - 5
13-32912345-GAA-G c.3859_3860del p.N1287* Frameshift 11/27 - 1
13-32912345-GA-G c.3860del p.N1287Ifs*6 Frameshift 11/27 - 22
13-32912345-G-GA c.3860dup p.N1287Kfs*2 Frameshift 11/27 - 2
13-32912349-AAAAT-A c.3860_3863del p.N1287Ifs*5 Frameshift 11/27 - 1
13-32912353-AT-A c.3861del p.N1287Kfs*6 Frameshift 11/27 - 1
13-32912350-AAAT-A c.3864_3866del p.N1288del InFrameDeletion 11/27 - 3
13-32912353-TAATA-T c.3865_3868del p.K1289Afs*3 Frameshift 11/27 - 2
13-32912357-A-G c.3865A>G p.K1289E Missense 11/27 - 2
13-32912361-G-A c.3869G>A p.C1290Y Missense 11/27 - 14
13-32912361-G-T c.3869G>T p.C1290F Missense 11/27 - 2
13-32912363-C-T c.3871C>T p.Q1291* Nonsense 11/27 - 3
13-32912363-CA-C c.3873del p.Q1291Hfs*2 Frameshift 11/27 - 2
13-32912367-T-A c.3875T>A p.L1292Q Missense 11/27 - 2
13-32912371-TA-T c.3879del p.L1294Yfs*7 Frameshift 11/27 - 1
13-32912368-GAT-G c.3879_3880del p.L1294Tfs*3 Frameshift 11/27 - 1
13-32912373-T-A c.3881T>A p.L1294* Nonsense 11/27 - 1
13-32912373-T-G c.3881T>G p.L1294* Nonsense 11/27 - 1
13-32912375-C-T c.3883C>T p.Q1295* Nonsense 11/27 - 4
13-32912380-T-C c.3888T>C p.N1296= Synonymous 11/27 - 1
13-32912387-G-T c.3895G>T p.E1299* Nonsense 11/27 - 5
13-32912388-A-T c.3896A>T p.E1299V Missense 11/27 - 1
13-32912392-G-C c.3900G>C p.M1300I Missense 11/27 - 1
13-32912392-G-A c.3900G>A p.M1300I Missense 11/27 - 1
13-32912392-G-T c.3900G>T p.M1300I Missense 11/27 - 1
13-32912392-TGAC-T c.3900_3902del p.M1300_T1301delinsI MultiAAMissense 11/27 - 1
13-32912392-GACT-G c.3904_3906del p.T1302del InFrameDeletion 11/27 - 2
13-32912396-A-G c.3904A>G p.T1302A Missense 11/27 - 2
13-32912396-A-C c.3904A>C p.T1302P Missense 11/27 - 1
13-32912402-A-G c.3910A>G p.T1304A Missense 11/27 - 1
13-32912403-C-T c.3911C>T p.T1304I Missense 11/27 - 3
13-32912404-T-G c.3912T>G p.T1304= Synonymous 11/27 - 1
13-32912406-TTG-T c.3916_3917del p.V1306* Frameshift 11/27 - 1
13-32912408-G-A c.3916G>A p.V1306I Missense 11/27 - 4
13-32912411-TG-T c.3919del p.E1307Kfs*28 Frameshift 11/27 - 1
13-32912411-G-T c.3919G>T p.E1307* Nonsense 11/27 - 1
13-32912414-G-A c.3922G>A p.E1308K Missense 11/27 - 3
13-32912414-G-T c.3922G>T p.E1308* Nonsense 11/27 - 30
13-32912417-AT-A c.3927del p.T1310Lfs*25 Frameshift 11/27 - 1
13-32912419-T-TA c.3928dup p.T1310Nfs*2 Frameshift 11/27 - 1
13-32912421-C-T c.3929C>T p.T1310I Missense 11/27 - 1
13-32912425-A-C c.3933A>C p.E1311D Missense 11/27 - 1
13-32912425-A-T c.3933A>T p.E1311D Missense 11/27 - 1
13-32912431-AC-A c.3939del p.Y1313* Frameshift 11/27 - 1
13-32912432-CAA-C c.3940_3941del p.K1314Efs*4 Frameshift 11/27 - 1
13-32912449-ATG-A c.3957_3958del p.N1319Kfs*3 Frameshift 11/27 - 2
13-32912446-AAATG-A c.3957_3960del p.N1319Kfs*15 Frameshift 11/27 - 1
13-32912454-A-G c.3962A>G p.D1321G Missense 11/27 - 2
13-32912455-TAAC-T c.3966_3968del p.N1322del InFrameDeletion 11/27 - 1
13-32912459-A-T c.3967A>T p.K1323* Nonsense 11/27 - 1
13-32912458-CA-C c.3969del p.K1323Nfs*12 Frameshift 11/27 - 1
13-32912464-ATACT-A c.3972_3975del p.Y1324* Frameshift 11/27 - 1
13-32912465-TA-T c.3973del p.T1325Lfs*10 Frameshift 11/27 - 1
13-32912465-TAC-T c.3973_3974del p.T1325Cfs*4 Frameshift 11/27 - 1
13-32912466-ACTGCTGCC-A c.3974_3981del p.T1325Kfs*2 Frameshift 11/27 - 1
13-32912467-T-G c.3975T>G p.T1325= Synonymous 11/27 - 1
13-32912467-T-C c.3975T>C p.T1325= Synonymous 11/27 - 1
13-32912467-T-A c.3975T>A p.T1325= Synonymous 11/27 - 1
13-32912471-G-GAA c.3979_3980insAA p.A1327Efs*9 Frameshift 11/27 - 1
13-32912474-A-T c.3982A>T p.S1328C Missense 11/27 - 1
13-32912475-G-A c.3983G>A p.S1328N Missense 11/27 - 1
13-32912488-T-C c.3996T>C p.H1332= Synonymous 11/27 - 1
13-32912495-G-T c.4003G>T p.E1335* Nonsense 11/27 - 7
13-32912495-G-GA c.4005dup p.F1336Ifs*2 Frameshift 11/27 - 1
13-32912498-T-TA c.4006_4007insA p.F1336Yfs*2 Frameshift 11/27 - 1
13-32912498-T-C c.4006T>C p.F1336L Missense 11/27 - 1
13-32912500-T-A c.4008T>A p.F1336L Missense 11/27 - 1
13-32912500-T-G c.4008T>G p.F1336L Missense 11/27 - 1
13-32912504-G-A c.4012G>A p.G1338S Missense 11/27 - 1
13-32912504-G-T c.4012G>T p.G1338C Missense 11/27 - 1
13-32912503-TGGCAGTGATTCAA-T c.4013_4025del p.G1338Vfs*32 Frameshift 11/27 - 1
13-32912507-A-G c.4015A>G p.S1339G Missense 11/27 - 1
13-32912511-AT-A c.4021del p.S1341Qfs*33 Frameshift 11/27 - 2
13-32912514-C-A c.4022C>A p.S1341* Nonsense 11/27 - 2
13-32912514-C-G c.4022C>G p.S1341* Nonsense 11/27 - 1
13-32912514-TC-T c.4022del p.S1341* Frameshift 11/27 - 1
13-32912517-G-A c.4025G>A p.S1342N Missense 11/27 - 1
13-32912520-A-T c.4028A>T p.K1343I Missense 11/27 - 1
13-32912520-A-AACAC c.4029_4030insCACA p.N1344Hfs*3 Frameshift 11/27 - 1
13-32912522-AATGAT-C c.4030_4035delinsC p.N1344Hfs*6 Frameshift 11/27 - 1
13-32912526-GA-G c.4034del p.D1345Vfs*29 Frameshift 11/27 - 5
13-32912527-AT-A c.4035del p.D1345Efs*29 Frameshift 11/27 - 3
13-32912527-T-C c.4035T>C p.D1345= Synonymous 11/27 - 1
13-32912528-A-G c.4036A>G p.T1346A Missense 11/27 - 1
13-32912529-ACT-A c.4037_4038del p.T1346Sfs*5 Frameshift 11/27 - 3
13-32912529-C-A c.4037C>A p.T1346N Missense 11/27 - 1
13-32912529-AC-A c.4037del p.T1346Mfs*28 Frameshift 11/27 - 1
13-32912531-G-GA c.4039_4040insA p.V1347Dfs*5 Frameshift 11/27 - 1
13-32912531-GTT-G c.4041_4042del p.C1348Yfs*3 Frameshift 11/27 - 1
13-32912534-T-A c.4042T>A p.C1348S Missense 11/27 - 1
13-32912535-G-C c.4043G>C p.C1348S Missense 11/27 - 1
13-32912536-T-G c.4044T>G p.C1348W Missense 11/27 - 1
13-32912537-A-C c.4045A>C p.I1349L Missense 11/27 - 1
13-32912538-T-C c.4046T>C p.I1349T Missense 11/27 - 3
13-32912540-C-A c.4048C>A p.H1350N Missense 11/27 - 1
13-32912546-G-A c.4054G>A p.D1352N Missense 11/27 - 3
13-32912546-G-T c.4054G>T p.D1352Y Missense 11/27 - 6
13-32912549-G-T c.4057G>T p.E1353* Nonsense 11/27 - 1
13-32912550-GAAACGGAC-G c.4058_4065del p.E1353Vfs*5 Frameshift 11/27 - 1
13-32912549-G-GA c.4060dup p.T1354Nfs*7 Frameshift 11/27 - 1
13-32912553-C-T c.4061C>T p.T1354M Missense 11/27 - 9
13-32912554-G-T c.4062G>T p.T1354= Synonymous 11/27 - 1
13-32912555-G-T c.4063G>T p.D1355Y Missense 11/27 - 1
13-32912560-G-A c.4068G>A p.L1356= Synonymous 11/27 - 7
13-32912558-T-C c.4066T>C p.L1356= Synonymous 11/27 - 1
13-32912556-ACTTG-A c.4067_4070del p.L1356Yfs*17 Frameshift 11/27 - 3
13-32912562-T-C c.4070T>C p.L1357P Missense 11/27 - 1
13-32912568-C-T c.4076C>T p.T1359I Missense 11/27 - 1
13-32912570-TG-T c.4078del p.D1360Ifs*14 Frameshift 11/27 - 1
13-32912573-C-T c.4081C>T p.Q1361* Nonsense 11/27 - 1
13-32912576-C-T c.4084C>T p.H1362Y Missense 11/27 - 1
13-32912577-CA-C c.4085del p.H1362Pfs*12 Frameshift 11/27 - 3
13-32912580-A-G c.4088A>G p.N1363S Missense 11/27 - 1
13-32912582-A-C c.4090A>C p.I1364L Missense 11/27 - 4
13-32912582-A-T c.4090A>T p.I1364L Missense 11/27 - 2
13-32912581-CAT-C c.4092_4093del p.I1364Mfs*3 Frameshift 11/27 - 1
13-32912584-A-G c.4092A>G p.I1364M Missense 11/27 - 2
13-32912586-G-A c.4094G>A p.C1365Y Missense 11/27 - 4
13-32912591-A-T c.4099A>T p.K1367* Nonsense 11/27 - 1
13-32912590-TA-T c.4101del p.K1367Nfs*7 Frameshift 11/27 - 1
13-32912594-T-C c.4102T>C p.L1368= Synonymous 11/27 - 1
13-32912596-A-G c.4104A>G p.L1368= Synonymous 11/27 - 1
13-32912598-TC-T c.4106del p.S1369Lfs*5 Frameshift 11/27 - 1
13-32912602-C-T c.4110C>T p.G1370= Synonymous 11/27 - 1
13-32912603-C-T c.4111C>T p.Q1371* Nonsense 11/27 - 4
13-32912604-A-G c.4112A>G p.Q1371R Missense 11/27 - 1
13-32912611-GA-G c.4121del p.K1374Rfs*14 Frameshift 11/27 - 1
13-32912615-G-T c.4123G>T p.E1375* Nonsense 11/27 - 1
13-32912617-G-C c.4125G>C p.E1375D Missense 11/27 - 1
13-32912617-G-T c.4125G>T p.E1375D Missense 11/27 - 1
13-32912618-G-T c.4126G>T p.G1376* Nonsense 11/27 - 1
13-32912618-G-A c.4126G>A p.G1376R Missense 11/27 - 1
13-32912618-G-C c.4126G>C p.G1376R Missense 11/27 - 1
13-32912619-G-T c.4127G>T p.G1376V Missense 11/27 - 1
13-32912619-G-C c.4127G>C p.G1376A Missense 11/27 - 3
13-32912619-GGAAA-G c.4127_4130del p.G1376Afs*11 Frameshift 11/27 - 1
13-32912621-A-G c.4129A>G p.N1377D Missense 11/27 - 1
13-32912619-GA-G c.4130del p.N1377Tfs*11 Frameshift 11/27 - 1
13-32912623-C-CTGAGGA c.4131_4132insTGAGGA p.N1377_T1378ins* Nonsense 11/27 - 6
13-32912623-C-CTGA c.4131_4132insTGA p.N1377_T1378ins* Nonsense 11/27 - 1
13-32912621-AAC-A c.4132_4133del p.T1378Sfs*3 Frameshift 11/27 - 1
13-32912624-ACT-TAA c.4132_4134delinsTAA p.T1378* Nonsense 11/27 - 1
13-32912622-ACACT-A c.4133_4136del p.T1378Rfs*9 Frameshift 11/27 - 4
13-32912626-T-A c.4134T>A p.T1378= Synonymous 11/27 - 1
13-32912626-T-G c.4134T>G p.T1378= Synonymous 11/27 - 1
13-32912626-T-C c.4134T>C p.T1378= Synonymous 11/27 - 1
13-32912628-A-G c.4136A>G p.Q1379R Missense 11/27 - 1
13-32912629-G-C c.4137G>C p.Q1379H Missense 11/27 - 1
13-32912636-G-A c.4144G>A p.E1382K Missense 11/27 - 1
13-32912633-AAAG-A c.4146_4148del p.E1382del InFrameDeletion 11/27 - 4
13-32912640-AT-A c.4151del p.L1384Cfs*4 Frameshift 11/27 - 2
13-32912646-C-A c.4154C>A p.S1385* Nonsense 11/27 - 1
13-32912646-C-G c.4154C>G p.S1385* Nonsense 11/27 - 2
13-32912646-C-T c.4154C>T p.S1385L Missense 11/27 - 1
13-32912649-A-T c.4157A>T p.D1386V Missense 11/27 - 1
13-32912651-T-A c.4159T>A p.L1387I Missense 11/27 - 1
13-32912652-T-TGGAAG c.4160_4161insGGAAG p.T1388Efs*24 Frameshift 11/27 - 2
13-32912655-C-A c.4163C>A p.T1388N Missense 11/27 - 1
13-32912655-AC-A c.4163del p.T1388Ifs*22 Frameshift 11/27 - 1
13-32912660-TTTG-T c.4168_4170del p.L1390del InFrameDeletion 11/27 - 1
13-32912655-CT-C c.4169del p.L1390Wfs*20 Frameshift 11/27 - 1
13-32912661-TG-T c.4171del p.E1391Kfs*19 Frameshift 11/27 - 2
13-32912663-G-T c.4171G>T p.E1391* Nonsense 11/27 - 1
13-32912664-A-G c.4172A>G p.E1391G Missense 11/27 - 2
13-32912669-G-A c.4177G>A p.A1393T Missense 11/27 - 1
13-32912670-C-T c.4178C>T p.A1393V Missense 11/27 - 2
13-32912675-G-T c.4183G>T p.A1395S Missense 11/27 - 1
13-32912678-C-A c.4186C>A p.Q1396K Missense 11/27 - 1
13-32912679-A-G c.4187A>G p.Q1396R Missense 11/27 - 7
13-32912693-G-GTGCT c.4201_4202insTGCT p.G1401Vfs*3 Frameshift 11/27 - 1
13-32912695-GT-G c.4203del p.N1402Ifs*8 Frameshift 11/27 - 1
13-32912699-A-G c.4207A>G p.T1403A Missense 11/27 - 1
13-32912698-T-TA c.4207dup p.T1403Nfs*4 Frameshift 11/27 - 1
13-32912698-TACTTC-T c.4208_4212del p.T1403Kfs*2 Frameshift 11/27 - 1
13-32912700-C-T c.4208C>T p.T1403I Missense 11/27 - 1
13-32912703-C-A c.4211C>A p.S1404* Nonsense 11/27 - 1
13-32912703-C-G c.4211C>G p.S1404* Nonsense 11/27 - 3
13-32912703-TC-T c.4211del p.S1404* Frameshift 11/27 - 1
13-32912708-TAAA-T c.4216_4218del p.K1406del InFrameDeletion 11/27 - 1
13-32912707-TAAAG-T c.4218_4221del p.K1406Nfs*3 Frameshift 11/27 - 1
13-32912711-G-T c.4219G>T p.E1407* Nonsense 11/27 - 2
13-32912712-AAC-A c.4222_4223del p.Q1408Vfs*5 Frameshift 11/27 - 1
13-32912714-C-T c.4222C>T p.Q1408* Nonsense 11/27 - 4
13-32912715-CA-C c.4223del p.Q1408Rfs*2 Frameshift 11/27 - 1
13-32912719-A-G c.4227A>G p.L1409= Synonymous 11/27 - 2
13-32912717-T-C c.4225T>C p.L1409= Synonymous 11/27 - 2
13-32912723-G-A c.4231G>A p.A1411T Missense 11/27 - 1
13-32912727-C-A c.4235C>A p.T1412N Missense 11/27 - 1
13-32912728-TA-T c.4240del p.T1414Rfs*5 Frameshift 11/27 - 2
13-32912733-C-T c.4241C>T p.T1414M Missense 11/27 - 11
13-32912735-G-A c.4243G>A p.E1415K Missense 11/27 - 1
13-32912735-G-T c.4243G>T p.E1415* Nonsense 11/27 - 1
13-32912733-CG-C c.4243del p.E1415Sfs*4 Frameshift 11/27 - 1
13-32912737-G-A c.4245G>A p.E1415= Synonymous 11/27 - 1
13-32912737-AG-A c.4245del p.E1415Dfs*4 Frameshift 11/27 - 1
13-32912744-A-G c.4252A>G p.I1418V Missense 11/27 - 2
13-32912745-T-C c.4253T>C p.I1418T Missense 11/27 - 1
13-32912746-A-G c.4254A>G p.I1418M Missense 11/27 - 1
13-32912747-A-C c.4255A>C p.K1419Q Missense 11/27 - 1
13-32912745-TAA-T c.4256_4257del p.K1419Rfs*3 Frameshift 11/27 - 1
13-32912745-TA-T c.4257del p.D1420Ifs*28 Frameshift 11/27 - 4
13-32912750-G-T c.4258G>T p.D1420Y Missense 11/27 - 43
13-32912750-AG-A c.4258del p.D1420Ifs*28 Frameshift 11/27 - 7
13-32912750-G-A c.4258G>A p.D1420N Missense 11/27 - 2
13-32912751-A-AT c.4263dup p.E1422* Nonsense 11/27 - 1
13-32912763-C-G c.4271C>G p.S1424C Missense 11/27 - 2
13-32912766-A-G c.4274A>G p.D1425G Missense 11/27 - 1
13-32912766-A-C c.4274A>C p.D1425A Missense 11/27 - 1
13-32912767-T-TA c.4276dup p.T1426Nfs*12 Frameshift 11/27 - 2
13-32912769-C-A c.4277C>A p.T1426K Missense 11/27 - 1
13-32912769-AC-A c.4277del p.T1426Nfs*22 Frameshift 11/27 - 1
13-32912770-ATTT-A c.4282_4284del p.F1428del InFrameDeletion 11/27 - 1
13-32912770-A-AT c.4284dup p.Q1429Sfs*9 Frameshift 11/27 - 24
13-32912777-C-CT c.4285_4286insT p.Q1429Lfs*9 Frameshift 11/27 - 2
13-32912777-C-G c.4285C>G p.Q1429E Missense 11/27 - 1
13-32912777-C-CG c.4285_4286insG p.Q1429Rfs*9 Frameshift 11/27 - 2
13-32912777-C-T c.4285C>T p.Q1429* Nonsense 11/27 - 2
13-32912779-G-A c.4287G>A p.Q1429= Synonymous 11/27 - 1
13-32912780-A-G c.4288A>G p.T1430A Missense 11/27 - 2
13-32912783-G-A c.4291G>A p.A1431T Missense 11/27 - 1
13-32912789-G-A c.4297G>A p.G1433R Missense 11/27 - 1
13-32912793-A-T c.4301A>T p.K1434I Missense 11/27 - 6
13-32912795-A-C c.4303A>C p.N1435H Missense 11/27 - 1
13-32912799-T-C c.4307T>C p.I1436T Missense 11/27 - 1
13-32912800-T-C c.4308T>C p.I1436= Synonymous 11/27 - 7
13-32912801-AG-CC c.4309_4310delinsCC p.S1437P Missense 11/27 - 1
13-32912802-G-C c.4310G>C p.S1437T Missense 11/27 - 2
13-32912802-G-A c.4310G>A p.S1437N Missense 11/27 - 1
13-32912804-GTC-ATG c.4312_4314delinsATG p.V1438M Missense 11/27 - 1
13-32912806-C-T c.4314C>T p.V1438= Synonymous 11/27 - 2
13-32912806-TC-T c.4314del p.A1439Pfs*9 Frameshift 11/27 - 2
13-32912808-C-A c.4316C>A p.A1439D Missense 11/27 - 1
13-32912812-A-C c.4320A>C p.K1440N Missense 11/27 - 1
13-32912812-A-T c.4320A>T p.K1440N Missense 11/27 - 1
13-32912813-G-T c.4321G>T p.E1441* Nonsense 11/27 - 1
13-32912814-A-T c.4322A>T p.E1441V Missense 11/27 - 1
13-32912817-C-A c.4325C>A p.S1442* Nonsense 11/27 - 4
13-32912817-C-T c.4325C>T p.S1442L Missense 11/27 - 1
13-32912822-A-G c.4330A>G p.N1444D Missense 11/27 - 1
13-32912826-A-C c.4334A>C p.K1445T Missense 11/27 - 1
13-32912828-AATT-A c.4336_4338del p.I1446del InFrameDeletion 11/27 - 1
13-32912831-GT-TA c.4339_4340delinsTA p.V1447* Nonsense 11/27 - 1
13-32912839-C-A c.4347C>A p.F1449L Missense 11/27 - 1
13-32912839-C-G c.4347C>G p.F1449L Missense 11/27 - 1
13-32912839-C-CT c.4350dup p.D1451* Nonsense 11/27 - 2
13-32912843-TG-T c.4351del p.D1451Ifs*12 Frameshift 11/27 - 2
13-32912846-CA-GG c.4354_4355delinsGG p.Q1452G Missense 11/27 - 1
13-32912849-A-AT c.4357_4358insT p.K1453Ifs*7 Frameshift 11/27 - 1
13-32912853-C-A c.4361C>A p.P1454Q Missense 11/27 - 1
13-32912855-G-T c.4363G>T p.E1455* Nonsense 11/27 - 3
13-32912856-A-T c.4364A>T p.E1455V Missense 11/27 - 1
13-32912857-A-G c.4365A>G p.E1455= Synonymous 11/27 - 1
13-32912858-G-A c.4366G>A p.E1456K Missense 11/27 - 1
13-32912861-T-A c.4369T>A p.L1457M Missense 11/27 - 1
13-32912863-G-T c.4371G>T p.L1457F Missense 11/27 - 1
13-32912863-G-C c.4371G>C p.L1457F Missense 11/27 - 1
13-32912864-C-T c.4372C>T p.H1458Y Missense 11/27 - 4
13-32912864-GC-G c.4372del p.H1458Ifs*5 Frameshift 11/27 - 1
13-32912865-A-G c.4373A>G p.H1458R Missense 11/27 - 1
13-32912867-A-T c.4375A>T p.N1459Y Missense 11/27 - 2
13-32912868-A-G c.4376A>G p.N1459S Missense 11/27 - 5
13-32912866-T-TA c.4376dup p.N1459Kfs*7 Frameshift 11/27 - 1
13-32912869-CTT-C c.4380_4381del p.S1461Lfs*4 Frameshift 11/27 - 6
13-32912874-C-T c.4382C>T p.S1461F Missense 11/27 - 1
13-32912883-C-G c.4391C>G p.S1464C Missense 11/27 - 1
13-32912881-TTC-T c.4391_4392del p.S1464* Frameshift 11/27 - 1
13-32912886-AATTAC-A c.4398_4402del p.L1466Ffs*2 Frameshift 11/27 - 6
13-32912895-C-G c.4403C>G p.S1468C Missense 11/27 - 1
13-32912895-CTGACA-C c.4405_4409del p.D1469Kfs*11 Frameshift 11/27 - 2
13-32912900-AT-TA c.4408_4409delinsTA p.I1470* Nonsense 11/27 - 1
13-32912900-A-G c.4408A>G p.I1470V Missense 11/27 - 1
13-32912899-CATAAG-C c.4409_4413del p.I1470Kfs*10 Frameshift 11/27 - 3
13-32912904-G-A c.4412G>A p.R1471K Missense 11/27 - 1
13-32912904-GAA-G c.4414_4415del p.K1472Efs*9 Frameshift 11/27 - 1
13-32912901-TAAGA-T c.4415_4418del p.K1472Tfs*6 Frameshift 11/27 - 11
13-32912908-G-C c.4416G>C p.K1472N Missense 11/27 - 1
13-32912911-AC-A c.4419del p.N1473Kfs*6 Frameshift 11/27 - 2
13-32912915-A-G c.4423A>G p.M1475V Missense 11/27 - 1
13-32912919-A-G c.4427A>G p.D1476G Missense 11/27 - 6
13-32912921-A-T c.4429A>T p.I1477F Missense 11/27 - 1
13-32912921-CA-C c.4429del p.I1477Ffs*2 Frameshift 11/27 - 1
13-32912926-AAGTTATGAGGAAACAGACATAGTTAAACACAAAATACTGAAAGAAAGTGTCCCAGTTG-TT c.4434_4492delinsTT p.S1479_G1498delinsC InFrameDeletion 11/27 - 3
13-32912928-G-A c.4436G>A p.S1479N Missense 11/27 - 2
13-32912928-G-C c.4436G>C p.S1479T Missense 11/27 - 1
13-32912932-T-A c.4440T>A p.Y1480* Nonsense 11/27 - 2
13-32912932-T-G c.4440T>G p.Y1480* Nonsense 11/27 - 4
13-32912932-TGAG-T c.4443_4445del p.E1482del InFrameDeletion 11/27 - 1
13-32912936-G-T c.4444G>T p.E1482* Nonsense 11/27 - 1
13-32912941-CA-C c.4449del p.D1484Tfs*2 Frameshift 11/27 - 8
13-32912942-AGAC-A c.4450_4452del p.D1484del InFrameDeletion 11/27 - 1
13-32912944-C-T c.4452C>T p.D1484= Synonymous 11/27 - 1
13-32912944-C-CA c.4453dup p.I1485Nfs*3 Frameshift 11/27 - 2
13-32912946-T-TAAAC c.4455_4456insAACA p.V1486Nfs*3 Frameshift 11/27 - 1
13-32912945-ATAGT-A c.4456_4459del p.V1486Nfs*5 Frameshift 11/27 - 2
13-32912952-A-C c.4460A>C p.K1487T Missense 11/27 - 1
13-32912956-AC-A c.4464del p.H1488Qfs*4 Frameshift 11/27 - 1
13-32912959-AATACTGA-TGTTTTT c.4467_4474delinsTGTTTTT p.K1489Nfs*15 Frameshift 11/27 - 4
13-32912959-A-C c.4467A>C p.K1489N Missense 11/27 - 1
13-32912959-A-T c.4467A>T p.K1489N Missense 11/27 - 1
13-32912961-TACTG-T c.4471_4474del p.L1491Kfs*12 Frameshift 11/27 - 13
13-32912964-CTGAA-C c.4472_4475del p.L1491Qfs*12 Frameshift 11/27 - 1
13-32912965-G-GTTTT c.4473_4474insTTTT p.K1492Ffs*2 Frameshift 11/27 - 1
13-32912966-A-T c.4474A>T p.K1492* Nonsense 11/27 - 1
13-32912968-A-AT c.4476_4477insT p.E1493* Nonsense 11/27 - 3
13-32912968-A-G c.4476A>G p.K1492= Synonymous 11/27 - 1
13-32912966-AAAG-A c.4477_4479del p.E1493del InFrameDeletion 11/27 - 1
13-32912969-G-C c.4477G>C p.E1493Q Missense 11/27 - 1
13-32912969-G-T c.4477G>T p.E1493* Nonsense 11/27 - 1
13-32912964-TGAAA-T c.4478_4481del p.E1493Vfs*10 Frameshift 11/27 - 20
13-32912969-GA-G c.4480del p.S1494Vfs*10 Frameshift 11/27 - 2
13-32912972-A-G c.4480A>G p.S1494G Missense 11/27 - 1
13-32912973-G-A c.4481G>A p.S1494N Missense 11/27 - 1
13-32912974-T-TAAAG c.4482_4483insAAAG p.V1495Kfs*20 Frameshift 11/27 - 1
13-32912978-C-A c.4486C>A p.P1496T Missense 11/27 - 1
13-32912979-C-A c.4487C>A p.P1496Q Missense 11/27 - 1
13-32912976-TC-T c.4487del p.P1496Qfs*8 Frameshift 11/27 - 2
13-32912981-G-T c.4489G>T p.V1497F Missense 11/27 - 1
13-32912984-G-T c.4492G>T p.G1498C Missense 11/27 - 1
13-32912985-G-C c.4493G>C p.G1498A Missense 11/27 - 1
13-32912994-A-G c.4502A>G p.N1501S Missense 11/27 - 1
13-32912995-T-C c.4503T>C p.N1501= Synonymous 11/27 - 1
13-32912996-C-A c.4504C>A p.Q1502K Missense 11/27 - 1
13-32912997-A-G c.4505A>G p.Q1502R Missense 11/27 - 1
13-32913004-G-GT c.4512_4513insT p.T1505Yfs*9 Frameshift 11/27 - 1
13-32913005-A-G c.4513A>G p.T1505A Missense 11/27 - 1
13-32913008-T-C c.4516T>C p.F1506L Missense 11/27 - 1
13-32913017-C-T c.4525C>T p.Q1509* Nonsense 11/27 - 2
13-32913022-C-T c.4530C>T p.P1510= Synonymous 11/27 - 1
13-32913022-C-G c.4530C>G p.P1510= Synonymous 11/27 - 1
13-32913022-C-A c.4530C>A p.P1510= Synonymous 11/27 - 1
13-32913023-G-A c.4531G>A p.E1511K Missense 11/27 - 2
13-32913023-GA-G c.4533del p.E1511Dfs*32 Frameshift 11/27 - 2
13-32913026-C-T c.4534C>T p.R1512C Missense 11/27 - 5
13-32913027-G-A c.4535G>A p.R1512H Missense 11/27 - 4
13-32913027-G-T c.4535G>T p.R1512L Missense 11/27 - 1
13-32913027-CG-C c.4535del p.R1512Lfs*31 Frameshift 11/27 - 1
13-32913028-T-A c.4536T>A p.R1512= Synonymous 11/27 - 1
13-32913028-T-C c.4536T>C p.R1512= Synonymous 11/27 - 1
13-32913028-T-G c.4536T>G p.R1512= Synonymous 11/27 - 1
13-32913029-G-A c.4537G>A p.D1513N Missense 11/27 - 2
13-32913027-GTGA-G c.4539_4541del p.D1513del InFrameDeletion 11/27 - 1
13-32913032-G-C c.4540G>C p.E1514Q Missense 11/27 -