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 |
- |
|