1-27022906-G-A |
c.12G>A |
p.Q4= |
Synonymous |
1/20 |
- |
1 |
1-27022922-GC-TG |
c.28_29delinsTG |
p.A10C |
Missense |
1/20 |
- |
1 |
1-27022925-AG-GA |
c.31_32delinsGA |
p.S11D |
Missense |
1/20 |
- |
6 |
1-27022925-AG-GC |
c.31_32delinsGC |
p.S11A |
Missense |
1/20 |
- |
11 |
1-27022925-AGC-GAG |
c.31_33delinsGAG |
p.S11E |
Missense |
1/20 |
- |
4 |
1-27022925-A-T |
c.31A>T |
p.S11C |
Missense |
1/20 |
- |
6 |
1-27022925-AG-TT |
c.31_32delinsTT |
p.S11F |
Missense |
1/20 |
- |
1 |
1-27022912-CCCCGCCGCCGCCAGCAGCCTGGGCAA-C |
c.31_56del |
p.S11Afs*91 |
Frameshift |
1/20 |
- |
4 |
1-27022925-A-G |
c.31A>G |
p.S11G |
Missense |
1/20 |
- |
3 |
1-27022925-AG-CA |
c.31_32delinsCA |
p.S11H |
Missense |
1/20 |
- |
1 |
1-27022928-AG-GC |
c.34_35delinsGC |
p.S12A |
Missense |
1/20 |
- |
15 |
1-27022928-A-T |
c.34A>T |
p.S12C |
Missense |
1/20 |
- |
7 |
1-27022928-AG-GA |
c.34_35delinsGA |
p.S12D |
Missense |
1/20 |
- |
2 |
1-27022928-AGC-GAG |
c.34_36delinsGAG |
p.S12E |
Missense |
1/20 |
- |
3 |
1-27022929-G-A |
c.35G>A |
p.S12N |
Missense |
1/20 |
- |
1 |
1-27022940-C-A |
c.46C>A |
p.P16T |
Missense |
1/20 |
- |
1 |
1-27022943-C-T |
c.49C>T |
p.P17S |
Missense |
1/20 |
- |
1 |
1-27022946-C-A |
c.52C>A |
p.P18T |
Missense |
1/20 |
- |
1 |
1-27022952-CCG-GAC |
c.58_60delinsGAC |
p.P20D |
Missense |
1/20 |
- |
1 |
1-27022939-CCCG-C |
c.60_62del |
p.P21del |
InFrameDeletion |
1/20 |
- |
2 |
1-27022955-GCCC-G |
c.61_63del |
p.P21del |
InFrameDeletion |
1/20 |
- |
1 |
1-27022958-T-G |
c.64T>G |
p.S22A |
Missense |
1/20 |
- |
1 |
1-27022959-CG-GT |
c.65_66delinsGT |
p.S22C |
Missense |
1/20 |
- |
1 |
1-27022969-G-A |
c.75G>A |
p.K25= |
Synonymous |
1/20 |
- |
1 |
1-27022971-A-T |
c.77A>T |
p.K26I |
Missense |
1/20 |
- |
1 |
1-27022973-GC-TT |
c.79_80delinsTT |
p.A27F |
Missense |
1/20 |
- |
1 |
1-27022973-GC-CG |
c.79_80delinsCG |
p.A27R |
Missense |
1/20 |
- |
1 |
1-27022974-CC-AG |
c.80_81delinsAG |
p.A27E |
Missense |
1/20 |
- |
1 |
1-27022975-C-CT |
c.81_82insT |
p.E28* |
Nonsense |
1/20 |
- |
1 |
1-27022976-G-A |
c.82G>A |
p.E28K |
Missense |
1/20 |
- |
1 |
1-27022984-G-A |
c.90G>A |
p.Q30= |
Synonymous |
1/20 |
- |
1 |
1-27022986-A-G |
c.92A>G |
p.Q31R |
Missense |
1/20 |
- |
1 |
1-27022988-GCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAA-G |
c.94_152del |
p.R32Gfs*59 |
Frameshift |
1/20 |
- |
1 |
1-27022989-G-T |
c.95G>T |
p.R32L |
Missense |
1/20 |
- |
1 |
1-27022989-G-A |
c.95G>A |
p.R32Q |
Missense |
1/20 |
- |
1 |
1-27022988-CGGGAG-C |
c.96_100del |
p.E33Gfs*76 |
Frameshift |
1/20 |
- |
1 |
1-27022995-GA-G |
c.101del |
p.E34Gfs*17 |
Frameshift |
1/20 |
- |
1 |
1-27023000-G-T |
c.106G>T |
p.G36W |
Missense |
1/20 |
- |
1 |
1-27023003-GG-AC |
c.109_110delinsAC |
p.G37T |
Missense |
1/20 |
- |
1 |
1-27022998-CG-C |
c.110del |
p.G37Afs*14 |
Frameshift |
1/20 |
- |
2 |
1-27023005-C-CA |
c.111_112insA |
p.E38Rfs*73 |
Frameshift |
1/20 |
- |
1 |
1-27023006-G-C |
c.112G>C |
p.E38Q |
Missense |
1/20 |
- |
1 |
1-27023006-G-A |
c.112G>A |
p.E38K |
Missense |
1/20 |
- |
1 |
1-27023009-G-A |
c.115G>A |
p.A39T |
Missense |
1/20 |
- |
1 |
1-27023009-G-C |
c.115G>C |
p.A39P |
Missense |
1/20 |
- |
1 |
1-27023010-C-CTGCT |
c.116_117insTGCT |
p.A41Gfs*71 |
Frameshift |
1/20 |
- |
1 |
1-27023012-GCG-TTT |
c.118_120delinsTTT |
p.A40F |
Missense |
1/20 |
- |
1 |
1-27023015-GCG-TGT |
c.121_123delinsTGT |
p.A41C |
Missense |
1/20 |
- |
1 |
1-27023015-GCG-ATC |
c.121_123delinsATC |
p.A41I |
Missense |
1/20 |
- |
1 |
1-27023015-GCG-AAC |
c.121_123delinsAAC |
p.A41N |
Missense |
1/20 |
- |
1 |
1-27023015-GCG-TTT |
c.121_123delinsTTT |
p.A41F |
Missense |
1/20 |
- |
1 |
1-27023016-C-T |
c.122C>T |
p.A41V |
Missense |
1/20 |
- |
3 |
1-27023018-G-A |
c.124G>A |
p.A42T |
Missense |
1/20 |
- |
1 |
1-27023019-C-T |
c.125C>T |
p.A42V |
Missense |
1/20 |
- |
1 |
1-27023020-G-A |
c.126G>A |
p.A42= |
Synonymous |
1/20 |
- |
1 |
1-27023020-G-C |
c.126G>C |
p.A42= |
Synonymous |
1/20 |
- |
2 |
1-27023020-G-T |
c.126G>T |
p.A42= |
Synonymous |
1/20 |
- |
2 |
1-27023021-GCA-TGT |
c.127_129delinsTGT |
p.A43C |
Missense |
1/20 |
- |
1 |
1-27023022-C-A |
c.128C>A |
p.A43E |
Missense |
1/20 |
- |
1 |
1-27023024-GCG-CAT |
c.130_132delinsCAT |
p.A44H |
Missense |
1/20 |
- |
1 |
1-27023025-CG-AC |
c.131_132delinsAC |
p.A44D |
Missense |
1/20 |
- |
1 |
1-27023025-C-G |
c.131C>G |
p.A44G |
Missense |
1/20 |
- |
1 |
1-27023027-GC-AA |
c.133_134delinsAA |
p.A45N |
Missense |
1/20 |
- |
1 |
1-27023033-C-G |
c.139C>G |
p.R47G |
Missense |
1/20 |
- |
1 |
1-27023034-G-A |
c.140G>A |
p.R47H |
Missense |
1/20 |
- |
2 |
1-27023037-G-T |
c.143G>T |
p.G48V |
Missense |
1/20 |
- |
1 |
1-27023042-A-G |
c.148A>G |
p.M50V |
Missense |
1/20 |
- |
1 |
1-27023044-G-T |
c.150G>T |
p.M50I |
Missense |
1/20 |
- |
1 |
1-27023048-GCA-TTT |
c.154_156delinsTTT |
p.A52F |
Missense |
1/20 |
- |
1 |
1-27023048-GCA-TGT |
c.154_156delinsTGT |
p.A52C |
Missense |
1/20 |
- |
1 |
1-27023048-G-A |
c.154G>A |
p.A52T |
Missense |
1/20 |
- |
1 |
1-27023049-CA-AC |
c.155_156delinsAC |
p.A52D |
Missense |
1/20 |
- |
2 |
1-27023049-C-T |
c.155C>T |
p.A52V |
Missense |
1/20 |
- |
2 |
1-27023051-GC-TT |
c.157_158delinsTT |
p.A53F |
Missense |
1/20 |
- |
1 |
1-27023052-CC-AG |
c.158_159delinsAG |
p.A53E |
Missense |
1/20 |
- |
1 |
1-27023054-GC-TT |
c.160_161delinsTT |
p.A54F |
Missense |
1/20 |
- |
1 |
1-27023054-GC-AA |
c.160_161delinsAA |
p.A54N |
Missense |
1/20 |
- |
1 |
1-27023054-GCC-TAA |
c.160_162delinsTAA |
p.A54* |
Nonsense |
1/20 |
- |
1 |
1-27023054-GC-TA |
c.160_161delinsTA |
p.A54Y |
Missense |
1/20 |
- |
1 |
1-27023054-GC-CG |
c.160_161delinsCG |
p.A54R |
Missense |
1/20 |
- |
1 |
1-27023054-G-T |
c.160G>T |
p.A54S |
Missense |
1/20 |
- |
1 |
1-27023055-C-T |
c.161C>T |
p.A54V |
Missense |
1/20 |
- |
1 |
1-27023058-G-A |
c.164G>A |
p.G55E |
Missense |
1/20 |
- |
1 |
1-27023060-C-T |
c.166C>T |
p.Q56* |
Nonsense |
1/20 |
- |
1 |
1-27023063-G-T |
c.169G>T |
p.E57* |
Nonsense |
1/20 |
- |
1 |
1-27023064-A-C |
c.170A>C |
p.E57A |
Missense |
1/20 |
- |
1 |
1-27023064-A-G |
c.170A>G |
p.E57G |
Missense |
1/20 |
- |
1 |
1-27023069-G-T |
c.175G>T |
p.E59* |
Nonsense |
1/20 |
- |
1 |
1-27023069-G-A |
c.175G>A |
p.E59K |
Missense |
1/20 |
- |
1 |
1-27023070-A-T |
c.176A>T |
p.E59V |
Missense |
1/20 |
- |
1 |
1-27023073-G-A |
c.179G>A |
p.G60D |
Missense |
1/20 |
- |
1 |
1-27023073-G-C |
c.179G>C |
p.G60A |
Missense |
1/20 |
- |
1 |
1-27023079-CC-AG |
c.185_186delinsAG |
p.A62E |
Missense |
1/20 |
- |
1 |
1-27023088-C-T |
c.194C>T |
p.P65L |
Missense |
1/20 |
- |
1 |
1-27023086-GC-G |
c.194del |
p.P65Rfs*36 |
Frameshift |
1/20 |
- |
1 |
1-27023089-G-T |
c.195G>T |
p.P65= |
Synonymous |
1/20 |
- |
1 |
1-27023089-G-A |
c.195G>A |
p.P65= |
Synonymous |
1/20 |
- |
1 |
1-27023089-G-C |
c.195G>C |
p.P65= |
Synonymous |
1/20 |
- |
1 |
1-27023090-C-T |
c.196C>T |
p.P66S |
Missense |
1/20 |
- |
1 |
1-27023090-C-G |
c.196C>G |
p.P66A |
Missense |
1/20 |
- |
1 |
1-27023094-A-C |
c.200A>C |
p.Q67P |
Missense |
1/20 |
- |
1 |
1-27023094-A-G |
c.200A>G |
p.Q67R |
Missense |
1/20 |
- |
1 |
1-27023100-T-G |
c.206T>G |
p.L69R |
Missense |
1/20 |
- |
1 |
1-27023102-G-T |
c.208G>T |
p.G70* |
Nonsense |
1/20 |
- |
2 |
1-27023102-GGA-AGC |
c.208_210delinsAGC |
p.G70S |
Missense |
1/20 |
- |
1 |
1-27023103-G-A |
c.209G>A |
p.G70E |
Missense |
1/20 |
- |
1 |
1-27023105-A-C |
c.211A>C |
p.K71Q |
Missense |
1/20 |
- |
1 |
1-27023107-G-C |
c.213G>C |
p.K71N |
Missense |
1/20 |
- |
1 |
1-27023107-G-T |
c.213G>T |
p.K71N |
Missense |
1/20 |
- |
1 |
1-27023118-A-C |
c.224A>C |
p.D75A |
Missense |
1/20 |
- |
1 |
1-27023123-G-C |
c.229G>C |
p.A77P |
Missense |
1/20 |
- |
1 |
1-27023126-G-A |
c.232G>A |
p.E78K |
Missense |
1/20 |
- |
1 |
1-27023133-A-C |
c.239A>C |
p.N80T |
Missense |
1/20 |
- |
1 |
1-27023135-GGG-AGC |
c.241_243delinsAGC |
p.G81S |
Missense |
1/20 |
- |
1 |
1-27023140-TGGCGGCGGCGGCGGAGCC-T |
c.250_267del |
p.G84_G89del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023145-G-GC |
c.252dup |
p.G85Rfs*26 |
Frameshift |
1/20 |
- |
1 |
1-27023140-TGGC-T |
c.258_260del |
p.G87del |
InFrameDeletion |
1/20 |
- |
2 |
1-27023153-G-T |
c.259G>T |
p.G87* |
Nonsense |
1/20 |
- |
2 |
1-27023152-CGGA-C |
c.260_262del |
p.G87del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023159-GGC-TGA |
c.265_267delinsTGA |
p.G89* |
Nonsense |
1/20 |
- |
1 |
1-27023162-A-G |
c.268A>G |
p.S90G |
Missense |
1/20 |
- |
3 |
1-27023166-G-C |
c.272G>C |
p.G91A |
Missense |
1/20 |
- |
1 |
1-27023172-G-C |
c.278G>C |
p.G93A |
Missense |
1/20 |
- |
1 |
1-27023174-C-T |
c.280C>T |
p.P94S |
Missense |
1/20 |
- |
1 |
1-27023168-GGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAAC-G |
c.283_326del |
p.G95* |
Frameshift |
1/20 |
- |
1 |
1-27023180-G-T |
c.286G>T |
p.A96S |
Missense |
1/20 |
- |
1 |
1-27023180-CGCGGAGCCGGA-C |
c.286_296del |
p.A96Pfs*11 |
Frameshift |
1/20 |
- |
1 |
1-27023183-G-T |
c.289G>T |
p.E97* |
Nonsense |
1/20 |
- |
1 |
1-27023185-G-C |
c.291G>C |
p.E97D |
Missense |
1/20 |
- |
1 |
1-27023185-G-T |
c.291G>T |
p.E97D |
Missense |
1/20 |
- |
1 |
1-27023186-C-T |
c.292C>T |
p.P98S |
Missense |
1/20 |
- |
1 |
1-27023189-GA-TT |
c.295_296delinsTT |
p.D99F |
Missense |
1/20 |
- |
1 |
1-27023199-A-G |
c.305A>G |
p.N102S |
Missense |
1/20 |
- |
1 |
1-27023201-TC-AG |
c.307_308delinsAG |
p.S103R |
Missense |
1/20 |
- |
1 |
1-27023202-CGAACGGGAACGCG-C |
c.310_322del |
p.N104Afs*6 |
Frameshift |
1/20 |
- |
1 |
1-27023205-A-G |
c.311A>G |
p.N104S |
Missense |
1/20 |
- |
1 |
1-27023211-A-C |
c.317A>C |
p.N106T |
Missense |
1/20 |
- |
1 |
1-27023211-ACGCGGGCCCTAGG-A |
c.319_331del |
p.A107Pfs*3 |
Frameshift |
1/20 |
- |
1 |
1-27023212-CGCGGGCCCTA-C |
c.320_329del |
p.A107Gfs*4 |
Frameshift |
1/20 |
- |
1 |
1-27023219-CCCTAGGCCCGCCCT-C |
c.325_338del |
p.P109Efs*3 |
Frameshift |
1/20 |
- |
1 |
1-27023226-C-A |
c.332C>A |
p.P111H |
Missense |
1/20 |
- |
1 |
1-27023237-A-C |
c.343A>C |
p.N115H |
Missense |
1/20 |
- |
1 |
1-27023240-A-C |
c.346A>C |
p.N116H |
Missense |
1/20 |
- |
1 |
1-27023239-TA-T |
c.347del |
p.N116Tfs*116 |
Frameshift |
1/20 |
- |
1 |
1-27023244-T-C |
c.350T>C |
p.L117P |
Missense |
1/20 |
- |
1 |
1-27023246-A-C |
c.352A>C |
p.T118P |
Missense |
1/20 |
- |
6 |
1-27023246-CA-C |
c.352del |
p.T118Rfs*114 |
Frameshift |
1/20 |
- |
1 |
1-27023246-CACGGAGCCGCCCGGCGGCG-C |
c.352_370del |
p.T118Afs*108 |
Frameshift |
1/20 |
- |
1 |
1-27023249-G-C |
c.355G>C |
p.E119Q |
Missense |
1/20 |
- |
1 |
1-27023246-ACGGAGCCGCC-A |
c.356_365del |
p.E119Afs*110 |
Frameshift |
1/20 |
- |
1 |
1-27023253-C-G |
c.359C>G |
p.P120R |
Missense |
1/20 |
- |
1 |
1-27023259-G-A |
c.365G>A |
p.G122D |
Missense |
1/20 |
- |
1 |
1-27023267-G-C |
c.373G>C |
p.G125R |
Missense |
1/20 |
- |
1 |
1-27023270-TGGCGG-T |
c.376_380del |
p.G126Qfs*272 |
Frameshift |
1/20 |
- |
1 |
1-27023274-G-A |
c.380G>A |
p.G127D |
Missense |
1/20 |
- |
1 |
1-27023276-A-G |
c.382A>G |
p.S128G |
Missense |
1/20 |
- |
1 |
1-27023277-GCAGCGATGGGGTGGGGGCGCCTCCTCACT-G |
c.388_416del |
p.D130Rfs*260 |
Frameshift |
1/20 |
- |
1 |
1-27023284-T-G |
c.390T>G |
p.D130E |
Missense |
1/20 |
- |
1 |
1-27023292-GG-AC |
c.398_399delinsAC |
p.G133D |
Missense |
1/20 |
- |
1 |
1-27023295-C-T |
c.401C>T |
p.A134V |
Missense |
1/20 |
- |
1 |
1-27023297-C-T |
c.403C>T |
p.P135S |
Missense |
1/20 |
- |
1 |
1-27023300-C-T |
c.406C>T |
p.P136S |
Missense |
1/20 |
- |
1 |
1-27023307-C-A |
c.413C>A |
p.S138* |
Nonsense |
1/20 |
- |
3 |
1-27023307-C-G |
c.413C>G |
p.S138* |
Nonsense |
1/20 |
- |
4 |
1-27023312-G-A |
c.418G>A |
p.A140T |
Missense |
1/20 |
- |
1 |
1-27023313-C-T |
c.419C>T |
p.A140V |
Missense |
1/20 |
- |
1 |
1-27023313-CG-C |
c.421del |
p.A141Pfs*91 |
Frameshift |
1/20 |
- |
1 |
1-27023320-C-CT |
c.428dup |
p.L143Ffs*257 |
Frameshift |
1/20 |
- |
1 |
1-27023323-GCCGCCCCCAGC-G |
c.431_441del |
p.P144Lfs*252 |
Frameshift |
1/20 |
- |
1 |
1-27023323-GCCGCCCCCAGCCTACGGCTTCGGGCAAC-G |
c.432_459del |
p.P145Tfs*78 |
Frameshift |
1/20 |
- |
1 |
1-27023326-GC-G |
c.437del |
p.P146Qfs*86 |
Frameshift |
1/20 |
- |
1 |
1-27023338-C-G |
c.444C>G |
p.Y148* |
Nonsense |
1/20 |
- |
1 |
1-27023345-GGGCAACCCTACGGCCGGAGCCCGTCTGCCGTC-G |
c.453_484del |
p.Q152Rfs*237 |
Frameshift |
1/20 |
- |
1 |
1-27023348-C-T |
c.454C>T |
p.Q152* |
Nonsense |
1/20 |
- |
2 |
1-27023351-C-G |
c.457C>G |
p.P153A |
Missense |
1/20 |
- |
2 |
1-27023355-A-C |
c.461A>C |
p.Y154S |
Missense |
1/20 |
- |
2 |
1-27023356-C-CCT |
c.462_463insCT |
p.G155Lfs*78 |
Frameshift |
1/20 |
- |
1 |
1-27023361-G-C |
c.467G>C |
p.R156P |
Missense |
1/20 |
- |
1 |
1-27023361-GG-AT |
c.467_468delinsAT |
p.R156H |
Missense |
1/20 |
- |
1 |
1-27023358-GCCGGAGC-G |
c.468_474del |
p.S157Lfs*73 |
Frameshift |
1/20 |
- |
1 |
1-27023363-A-G |
c.469A>G |
p.S157G |
Missense |
1/20 |
- |
1 |
1-27023366-C-T |
c.472C>T |
p.P158S |
Missense |
1/20 |
- |
2 |
1-27023372-G-T |
c.478G>T |
p.A160S |
Missense |
1/20 |
- |
1 |
1-27023376-T-C |
c.482T>C |
p.V161A |
Missense |
1/20 |
- |
1 |
1-27023373-CCGT-C |
c.482_484del |
p.V161del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023377-C-CAGG |
c.483_484insAGG |
p.V161_A162insR |
InFrameInsertion |
1/20 |
- |
1 |
1-27023376-TCGCCGCCGCCG-T |
c.485_495del |
p.A162Gfs*234 |
Frameshift |
1/20 |
- |
1 |
1-27023379-GCCGCCGCC-G |
c.485_492del |
p.A162Gfs*235 |
Frameshift |
1/20 |
- |
1 |
1-27023378-GCCGCCGC-G |
c.486_492del |
p.A163Rfs*67 |
Frameshift |
1/20 |
- |
2 |
1-27023382-C-T |
c.488C>T |
p.A163V |
Missense |
1/20 |
- |
1 |
1-27023376-TCGCCGC-T |
c.489_494del |
p.A166_A167del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023384-G-T |
c.490G>T |
p.A164S |
Missense |
1/20 |
- |
1 |
1-27023382-CCGCCGCGG-C |
c.490_497del |
p.A164Rfs*233 |
Frameshift |
1/20 |
- |
1 |
1-27023386-C-G |
c.492C>G |
p.A164= |
Synonymous |
1/20 |
- |
1 |
1-27023391-C-T |
c.497C>T |
p.A166V |
Missense |
1/20 |
- |
1 |
1-27023397-T-C |
c.503T>C |
p.V168A |
Missense |
1/20 |
- |
1 |
1-27023400-TC-T |
c.508del |
p.H170Tfs*62 |
Frameshift |
1/20 |
- |
1 |
1-27023405-C-T |
c.511C>T |
p.Q171* |
Nonsense |
1/20 |
- |
1 |
1-27023407-A-T |
c.513A>T |
p.Q171H |
Missense |
1/20 |
- |
1 |
1-27023407-A-C |
c.513A>C |
p.Q171H |
Missense |
1/20 |
- |
1 |
1-27023408-CA-GC |
c.514_515delinsGC |
p.Q172A |
Missense |
1/20 |
- |
1 |
1-27023408-C-T |
c.514C>T |
p.Q172* |
Nonsense |
1/20 |
- |
2 |
1-27023411-C-T |
c.517C>T |
p.H173Y |
Missense |
1/20 |
- |
1 |
1-27023411-CA-GC |
c.517_518delinsGC |
p.H173A |
Missense |
1/20 |
- |
1 |
1-27023412-A-C |
c.518A>C |
p.H173P |
Missense |
1/20 |
- |
1 |
1-27023417-G-T |
c.523G>T |
p.G175* |
Nonsense |
1/20 |
- |
1 |
1-27023423-C-T |
c.529C>T |
p.Q177* |
Nonsense |
1/20 |
- |
1 |
1-27023425-A-T |
c.531A>T |
p.Q177H |
Missense |
1/20 |
- |
1 |
1-27023425-A-C |
c.531A>C |
p.Q177H |
Missense |
1/20 |
- |
1 |
1-27023423-C-CA |
c.532dup |
p.S178Kfs*222 |
Frameshift |
1/20 |
- |
1 |
1-27023431-CTGGCCTGGCA-C |
c.537_546del |
p.G180Rfs*49 |
Frameshift |
1/20 |
- |
1 |
1-27023432-G-A |
c.538G>A |
p.G180S |
Missense |
1/20 |
- |
1 |
1-27023438-G-A |
c.544G>A |
p.A182T |
Missense |
1/20 |
- |
1 |
1-27023441-G-A |
c.547G>A |
p.A183T |
Missense |
1/20 |
- |
1 |
1-27023447-C-T |
c.553C>T |
p.Q185* |
Nonsense |
1/20 |
- |
2 |
1-27023447-C-CA |
c.554dup |
p.S186Efs*214 |
Frameshift |
1/20 |
- |
1 |
1-27023453-G-A |
c.559G>A |
p.G187S |
Missense |
1/20 |
- |
1 |
1-27023454-G-C |
c.560G>C |
p.G187A |
Missense |
1/20 |
- |
1 |
1-27023455-CG-C |
c.563del |
p.G188Afs*44 |
Frameshift |
1/20 |
- |
1 |
1-27023460-G-T |
c.566G>T |
p.G189V |
Missense |
1/20 |
- |
1 |
1-27023450-AGCG-A |
c.567_569del |
p.G191del |
InFrameDeletion |
1/20 |
- |
4 |
1-27023462-G-T |
c.568G>T |
p.G190W |
Missense |
1/20 |
- |
1 |
1-27023466-G-C |
c.572G>C |
p.G191A |
Missense |
1/20 |
- |
1 |
1-27023474-C-T |
c.580C>T |
p.P194S |
Missense |
1/20 |
- |
1 |
1-27023475-C-T |
c.581C>T |
p.P194L |
Missense |
1/20 |
- |
2 |
1-27023479-C-A |
c.585C>A |
p.Y195* |
Nonsense |
1/20 |
- |
1 |
1-27023484-G-A |
c.590G>A |
p.G197E |
Missense |
1/20 |
- |
1 |
1-27023486-C-T |
c.592C>T |
p.P198S |
Missense |
1/20 |
- |
1 |
1-27023487-C-A |
c.593C>A |
p.P198H |
Missense |
1/20 |
- |
1 |
1-27023489-C-T |
c.595C>T |
p.Q199* |
Nonsense |
1/20 |
- |
1 |
1-27023492-C-T |
c.598C>T |
p.Q200* |
Nonsense |
1/20 |
- |
1 |
1-27023497-C-G |
c.603C>G |
p.N201K |
Missense |
1/20 |
- |
1 |
1-27023497-C-A |
c.603C>A |
p.N201K |
Missense |
1/20 |
- |
1 |
1-27023496-ACT-A |
c.606_607del |
p.H203Rfs*196 |
Frameshift |
1/20 |
- |
1 |
1-27023501-C-G |
c.607C>G |
p.H203D |
Missense |
1/20 |
- |
1 |
1-27023503-C-CT |
c.609_610insT |
p.D204* |
Nonsense |
1/20 |
- |
1 |
1-27023508-A-G |
c.614A>G |
p.H205R |
Missense |
1/20 |
- |
1 |
1-27023510-G-T |
c.616G>T |
p.G206C |
Missense |
1/20 |
- |
1 |
1-27023510-G-A |
c.616G>A |
p.G206S |
Missense |
1/20 |
- |
1 |
1-27023520-A-G |
c.626A>G |
p.N209S |
Missense |
1/20 |
- |
1 |
1-27023525-C-T |
c.631C>T |
p.Q211* |
Nonsense |
1/20 |
- |
2 |
1-27023530-C-A |
c.636C>A |
p.Y212* |
Nonsense |
1/20 |
- |
1 |
1-27023530-C-G |
c.636C>G |
p.Y212* |
Nonsense |
1/20 |
- |
1 |
1-27023539-C-G |
c.645C>G |
p.Y215* |
Nonsense |
1/20 |
- |
2 |
1-27023540-CT-C |
c.646del |
p.Y216Tfs*16 |
Frameshift |
1/20 |
- |
1 |
1-27023542-C-A |
c.648C>A |
p.Y216* |
Nonsense |
1/20 |
- |
3 |
1-27023542-C-G |
c.648C>G |
p.Y216* |
Nonsense |
1/20 |
- |
3 |
1-27023547-A-C |
c.653A>C |
p.N218T |
Missense |
1/20 |
- |
1 |
1-27023553-AGCGCC-A |
c.659_663del |
p.S220Ifs*178 |
Frameshift |
1/20 |
- |
1 |
1-27023553-GCGC-G |
c.661_663del |
p.A221del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023560-C-A |
c.666C>A |
p.Y222* |
Nonsense |
1/20 |
- |
2 |
1-27023560-C-G |
c.666C>G |
p.Y222* |
Nonsense |
1/20 |
- |
2 |
1-27023565-C-T |
c.671C>T |
p.P224L |
Missense |
1/20 |
- |
1 |
1-27023559-A-AC |
c.671dup |
p.P225Afs*175 |
Frameshift |
1/20 |
- |
3 |
1-27023559-AC-A |
c.671del |
p.P224Rfs*8 |
Frameshift |
1/20 |
- |
1 |
1-27023567-C-T |
c.673C>T |
p.P225S |
Missense |
1/20 |
- |
1 |
1-27023568-C-T |
c.674C>T |
p.P225L |
Missense |
1/20 |
- |
1 |
1-27023570-G-C |
c.676G>C |
p.A226P |
Missense |
1/20 |
- |
2 |
1-27023570-G-A |
c.676G>A |
p.A226T |
Missense |
1/20 |
- |
1 |
1-27023570-G-T |
c.676G>T |
p.A226S |
Missense |
1/20 |
- |
1 |
1-27023571-C-A |
c.677C>A |
p.A226D |
Missense |
1/20 |
- |
1 |
1-27023574-C-A |
c.680C>A |
p.P227Q |
Missense |
1/20 |
- |
3 |
1-27023574-C-T |
c.680C>T |
p.P227L |
Missense |
1/20 |
- |
1 |
1-27023572-CCCGG-C |
c.681_684del |
p.A228Tfs*3 |
Frameshift |
1/20 |
- |
1 |
1-27023577-C-T |
c.683C>T |
p.A228V |
Missense |
1/20 |
- |
1 |
1-27023580-A-G |
c.686A>G |
p.Y229C |
Missense |
1/20 |
- |
1 |
1-27023582-G-A |
c.688G>A |
p.A230T |
Missense |
1/20 |
- |
1 |
1-27023583-C-T |
c.689C>T |
p.A230V |
Missense |
1/20 |
- |
2 |
1-27023580-ACG-A |
c.690_691del |
p.L231Efs*168 |
Frameshift |
1/20 |
- |
1 |
1-27023597-A-T |
c.703A>T |
p.R235* |
Nonsense |
1/20 |
- |
1 |
1-27023595-CGA-C |
c.705_706del |
p.G236Wfs*163 |
Frameshift |
1/20 |
- |
1 |
1-27023608-CTCCGGGCTCCGGCGCGGCGGCGGCT-C |
c.714_738del |
p.G240Afs*115 |
Frameshift |
1/20 |
- |
1 |
1-27023610-C-G |
c.716C>G |
p.P239R |
Missense |
1/20 |
- |
1 |
1-27023610-C-T |
c.716C>T |
p.P239L |
Missense |
1/20 |
- |
1 |
1-27023616-C-G |
c.722C>G |
p.S241C |
Missense |
1/20 |
- |
1 |
1-27023616-C-T |
c.722C>T |
p.S241F |
Missense |
1/20 |
- |
1 |
1-27023619-G-C |
c.725G>C |
p.G242A |
Missense |
1/20 |
- |
1 |
1-27023619-G-A |
c.725G>A |
p.G242D |
Missense |
1/20 |
- |
1 |
1-27023620-C-CGCA |
c.728_729insAGC |
p.A247dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27023624-G-A |
c.730G>A |
p.A244T |
Missense |
1/20 |
- |
1 |
1-27023625-GC-G |
c.731del |
p.A244Gfs*119 |
Frameshift |
1/20 |
- |
1 |
1-27023626-G-GA |
c.732_733insA |
p.A245Sfs*155 |
Frameshift |
1/20 |
- |
1 |
1-27023627-G-C |
c.733G>C |
p.A245P |
Missense |
1/20 |
- |
1 |
1-27023628-GC-G |
c.734del |
p.A245Gfs*118 |
Frameshift |
1/20 |
- |
1 |
1-27023628-GCGGCTGCCGGCTCC-G |
c.734_747del |
p.A245Efs*150 |
Frameshift |
1/20 |
- |
1 |
1-27023629-CGGCTGCCGGCTCCA-C |
c.735_748del |
p.G248Sfs*147 |
Frameshift |
1/20 |
- |
1 |
1-27023635-C-CGCA |
c.742_743insCAG |
p.A247dup |
InFrameInsertion |
1/20 |
- |
2 |
1-27023636-G-T |
c.742G>T |
p.G248C |
Missense |
1/20 |
- |
1 |
1-27023637-G-A |
c.743G>A |
p.G248D |
Missense |
1/20 |
- |
1 |
1-27023640-C-G |
c.746C>G |
p.S249C |
Missense |
1/20 |
- |
1 |
1-27023645-C-G |
c.751C>G |
p.P251A |
Missense |
1/20 |
- |
1 |
1-27023645-CCGCCT-C |
c.753_757del |
p.P252Lfs*146 |
Frameshift |
1/20 |
- |
1 |
1-27023647-CGCCTCCCTCCT-C |
c.753_763del |
p.P252Qfs*144 |
Frameshift |
1/20 |
- |
1 |
1-27023652-C-T |
c.758C>T |
p.P253L |
Missense |
1/20 |
- |
1 |
1-27023652-C-G |
c.758C>G |
p.P253R |
Missense |
1/20 |
- |
1 |
1-27023647-GCCTC-G |
c.759_762del |
p.S254Pfs*108 |
Frameshift |
1/20 |
- |
1 |
1-27023655-CC-AA |
c.761_762delinsAA |
p.S254* |
Nonsense |
1/20 |
- |
1 |
1-27023654-TC-T |
c.762del |
p.S255Pfs*108 |
Frameshift |
1/20 |
- |
1 |
1-27023651-CCCT-C |
c.763_765del |
p.S256del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023664-C-T |
c.770C>T |
p.A257V |
Missense |
1/20 |
- |
1 |
1-27023663-GCCTCCGCCTC-G |
c.771_780del |
p.S258Rfs*102 |
Frameshift |
1/20 |
- |
1 |
1-27023663-GC-G |
c.771del |
p.S258Pfs*105 |
Frameshift |
1/20 |
- |
1 |
1-27023667-C-T |
c.773C>T |
p.S258F |
Missense |
1/20 |
- |
1 |
1-27023669-G-T |
c.775G>T |
p.A259S |
Missense |
1/20 |
- |
1 |
1-27023673-C-T |
c.779C>T |
p.S260F |
Missense |
1/20 |
- |
1 |
1-27023669-GCCT-G |
c.780_782del |
p.S265del |
InFrameDeletion |
1/20 |
- |
2 |
1-27023676-C-A |
c.782C>A |
p.S261* |
Nonsense |
1/20 |
- |
1 |
1-27023676-C-G |
c.782C>G |
p.S261W |
Missense |
1/20 |
- |
1 |
1-27023676-TCGTCGTCTTC-T |
c.782_791del |
p.S261Cfs*99 |
Frameshift |
1/20 |
- |
2 |
1-27023678-TCG-GAC |
c.784_786delinsGAC |
p.S262D |
Missense |
1/20 |
- |
1 |
1-27023678-T-G |
c.784T>G |
p.S262A |
Missense |
1/20 |
- |
1 |
1-27023679-C-A |
c.785C>A |
p.S262* |
Nonsense |
1/20 |
- |
1 |
1-27023674-CTCG-C |
c.786_788del |
p.S265del |
InFrameDeletion |
1/20 |
- |
2 |
1-27023685-C-T |
c.791C>T |
p.S264L |
Missense |
1/20 |
- |
2 |
1-27023685-C-A |
c.791C>A |
p.S264* |
Nonsense |
1/20 |
- |
4 |
1-27023690-TT-GC |
c.796_797delinsGC |
p.F266A |
Missense |
1/20 |
- |
1 |
1-27023695-T-A |
c.801T>A |
p.A267= |
Synonymous |
1/20 |
- |
1 |
1-27023695-T-C |
c.801T>C |
p.A267= |
Synonymous |
1/20 |
- |
1 |
1-27023695-T-G |
c.801T>G |
p.A267= |
Synonymous |
1/20 |
- |
1 |
1-27023696-C-T |
c.802C>T |
p.Q268* |
Nonsense |
1/20 |
- |
6 |
1-27023697-A-T |
c.803A>T |
p.Q268L |
Missense |
1/20 |
- |
1 |
1-27023699-C-T |
c.805C>T |
p.Q269* |
Nonsense |
1/20 |
- |
3 |
1-27023702-C-T |
c.808C>T |
p.R270C |
Missense |
1/20 |
- |
1 |
1-27023702-CG-AC |
c.808_809delinsAC |
p.R270T |
Missense |
1/20 |
- |
1 |
1-27023703-G-A |
c.809G>A |
p.R270H |
Missense |
1/20 |
- |
4 |
1-27023712-C-T |
c.818C>T |
p.A273V |
Missense |
1/20 |
- |
1 |
1-27023711-GC-G |
c.819del |
p.M274Wfs*89 |
Frameshift |
1/20 |
- |
1 |
1-27023714-AT-TA |
c.820_821delinsTA |
p.M274* |
Nonsense |
1/20 |
- |
1 |
1-27023716-G-A |
c.822G>A |
p.M274I |
Missense |
1/20 |
- |
2 |
1-27023717-GGG-AGC |
c.823_825delinsAGC |
p.G275S |
Missense |
1/20 |
- |
1 |
1-27023718-G-A |
c.824G>A |
p.G275E |
Missense |
1/20 |
- |
1 |
1-27023718-GGGGGAGGCGGCCC-G |
c.824_836del |
p.G275Afs*84 |
Frameshift |
1/20 |
- |
1 |
1-27023719-GGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTC-G |
c.825_859del |
p.G276Pfs*112 |
Frameshift |
1/20 |
- |
1 |
1-27023720-GGA-AGC |
c.826_828delinsAGC |
p.G276S |
Missense |
1/20 |
- |
1 |
1-27023720-GGA-TTT |
c.826_828delinsTTT |
p.G276F |
Missense |
1/20 |
- |
1 |
1-27023720-G-T |
c.826G>T |
p.G276* |
Nonsense |
1/20 |
- |
1 |
1-27023721-G-A |
c.827G>A |
p.G276E |
Missense |
1/20 |
- |
1 |
1-27023715-TG-T |
c.827del |
p.G276Efs*87 |
Frameshift |
1/20 |
- |
5 |
1-27023715-T-TG |
c.827dup |
p.G277Rfs*123 |
Frameshift |
1/20 |
- |
1 |
1-27023726-G-A |
c.832G>A |
p.G278S |
Missense |
1/20 |
- |
1 |
1-27023732-T-G |
c.838T>G |
p.S280A |
Missense |
1/20 |
- |
1 |
1-27023732-T-C |
c.838T>C |
p.S280P |
Missense |
1/20 |
- |
1 |
1-27023733-CC-AA |
c.839_840delinsAA |
p.S280* |
Nonsense |
1/20 |
- |
1 |
1-27023734-C-T |
c.840C>T |
p.S280= |
Synonymous |
1/20 |
- |
1 |
1-27023734-C-G |
c.840C>G |
p.S280= |
Synonymous |
1/20 |
- |
1 |
1-27023734-C-A |
c.840C>A |
p.S280= |
Synonymous |
1/20 |
- |
1 |
1-27023737-G-A |
c.843G>A |
p.A281= |
Synonymous |
1/20 |
- |
1 |
1-27023738-G-A |
c.844G>A |
p.A282T |
Missense |
1/20 |
- |
1 |
1-27023743-CG-C |
c.854del |
p.G285Efs*78 |
Frameshift |
1/20 |
- |
3 |
1-27023749-A-G |
c.855A>G |
p.G285= |
Synonymous |
1/20 |
- |
1 |
1-27023749-GAACTCCC-G |
c.855_861del |
p.T286Sfs*75 |
Frameshift |
1/20 |
- |
1 |
1-27023750-A-C |
c.856A>C |
p.T286P |
Missense |
1/20 |
- |
2 |
1-27023752-TC-T |
c.862del |
p.Q288Sfs*75 |
Frameshift |
1/20 |
- |
1 |
1-27023756-C-T |
c.862C>T |
p.Q288* |
Nonsense |
1/20 |
- |
3 |
1-27023757-A-C |
c.863A>C |
p.Q288P |
Missense |
1/20 |
- |
4 |
1-27023757-CA-C |
c.863del |
p.Q288Rfs*75 |
Frameshift |
1/20 |
- |
1 |
1-27023752-TCCCCAGCCCACCGCCAC-T |
c.864_880del |
p.Q288Hfs*106 |
Frameshift |
1/20 |
- |
1 |
1-27023759-C-T |
c.865C>T |
p.P289S |
Missense |
1/20 |
- |
1 |
1-27023760-C-A |
c.866C>A |
p.P289H |
Missense |
1/20 |
- |
1 |
1-27023758-G-GCCCCCCC |
c.867_868insCCCCCCC |
p.T290Pfs*112 |
Frameshift |
1/20 |
- |
1 |
1-27023762-A-G |
c.868A>G |
p.T290A |
Missense |
1/20 |
- |
1 |
1-27023758-GCCCACCGCCAC-G |
c.868_878del |
p.T290Hfs*106 |
Frameshift |
1/20 |
- |
1 |
1-27023762-A-C |
c.868A>C |
p.T290P |
Missense |
1/20 |
- |
1 |
1-27023765-G-C |
c.871G>C |
p.A291P |
Missense |
1/20 |
- |
1 |
1-27023768-A-C |
c.874A>C |
p.T292P |
Missense |
1/20 |
- |
1 |
1-27023768-A-AC |
c.879dup |
p.T294Hfs*106 |
Frameshift |
1/20 |
- |
1 |
1-27023768-AC-A |
c.879del |
p.T294Pfs*69 |
Frameshift |
1/20 |
- |
2 |
1-27023774-A-C |
c.880A>C |
p.T294P |
Missense |
1/20 |
- |
2 |
1-27023777-C-A |
c.883C>A |
p.L295I |
Missense |
1/20 |
- |
1 |
1-27023774-A-AC |
c.883dup |
p.L295Pfs*105 |
Frameshift |
1/20 |
- |
1 |
1-27023780-A-C |
c.886A>C |
p.N296H |
Missense |
1/20 |
- |
1 |
1-27023783-C-T |
c.889C>T |
p.Q297* |
Nonsense |
1/20 |
- |
2 |
1-27023778-TCAAC-T |
c.889_892del |
p.Q297Cfs*65 |
Frameshift |
1/20 |
- |
1 |
1-27023784-A-C |
c.890A>C |
p.Q297P |
Missense |
1/20 |
- |
1 |
1-27023785-A-C |
c.891A>C |
p.Q297H |
Missense |
1/20 |
- |
1 |
1-27023787-T-G |
c.893T>G |
p.L298R |
Missense |
1/20 |
- |
1 |
1-27023802-G-C |
c.908G>C |
p.S303T |
Missense |
1/20 |
- |
1 |
1-27023808-C-T |
c.914C>T |
p.A305V |
Missense |
1/20 |
- |
2 |
1-27023810-C-T |
c.916C>T |
p.R306W |
Missense |
1/20 |
- |
1 |
1-27023807-GCCCGGGGCTACCAGGGCTAC-G |
c.921_940del |
p.Y308Rfs*85 |
Frameshift |
1/20 |
- |
1 |
1-27023818-C-A |
c.924C>A |
p.Y308* |
Nonsense |
1/20 |
- |
1 |
1-27023818-C-G |
c.924C>G |
p.Y308* |
Nonsense |
1/20 |
- |
1 |
1-27023825-T-A |
c.931T>A |
p.Y311N |
Missense |
1/20 |
- |
1 |
1-27023834-G-C |
c.940G>C |
p.G314R |
Missense |
1/20 |
- |
1 |
1-27023830-C-CG |
c.941dup |
p.D315Rfs*85 |
Frameshift |
1/20 |
- |
1 |
1-27023830-CG-C |
c.941del |
p.G314Afs*49 |
Frameshift |
1/20 |
- |
1 |
1-27023838-A-C |
c.944A>C |
p.D315A |
Missense |
1/20 |
- |
1 |
1-27023829-CCGGGGGCGACTACAGTGGCGGGCCCCAGGA-C |
c.944_973del |
p.D315_G324del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023843-A-G |
c.949A>G |
p.S317G |
Missense |
1/20 |
- |
1 |
1-27023847-G-C |
c.953G>C |
p.G318A |
Missense |
1/20 |
- |
1 |
1-27023850-G-T |
c.956G>T |
p.G319V |
Missense |
1/20 |
- |
1 |
1-27023849-GGGCCCCAGGACGGGGGCGCC-G |
c.959_978del |
p.P320Qfs*73 |
Frameshift |
1/20 |
- |
1 |
1-27023848-CGGGCCCCAGGACGGGGGCGCCGGCAA-C |
c.961_986del |
p.Q321Gfs*70 |
Frameshift |
1/20 |
- |
1 |
1-27023861-G-T |
c.967G>T |
p.G323W |
Missense |
1/20 |
- |
1 |
1-27023862-GGGGCGCC-G |
c.971_977del |
p.G324Afs*37 |
Frameshift |
1/20 |
- |
1 |
1-27023866-C-T |
c.972C>T |
p.G324= |
Synonymous |
1/20 |
- |
1 |
1-27023866-C-G |
c.972C>G |
p.G324= |
Synonymous |
1/20 |
- |
1 |
1-27023866-C-A |
c.972C>A |
p.G324= |
Synonymous |
1/20 |
- |
1 |
1-27023867-G-A |
c.973G>A |
p.A325T |
Missense |
1/20 |
- |
2 |
1-27023873-A-T |
c.979A>T |
p.K327* |
Nonsense |
1/20 |
- |
2 |
1-27023874-A-C |
c.980A>C |
p.K327T |
Missense |
1/20 |
- |
1 |
1-27023886-A-C |
c.992A>C |
p.D331A |
Missense |
1/20 |
- |
1 |
1-27023895-C-G |
c.1001C>G |
p.S334W |
Missense |
1/20 |
- |
1 |
1-27023895-C-A |
c.1001C>A |
p.S334* |
Nonsense |
1/20 |
- |
5 |
1-27023895-C-T |
c.1001C>T |
p.S334L |
Missense |
1/20 |
- |
1 |
1-27023897-C-T |
c.1003C>T |
p.Q335* |
Nonsense |
1/20 |
- |
2 |
1-27023903-TG-T |
c.1015del |
p.A339Lfs*24 |
Frameshift |
1/20 |
- |
3 |
1-27023910-C-G |
c.1016C>G |
p.A339G |
Missense |
1/20 |
- |
1 |
1-27023915-GGCGGCGGC-G |
c.1021_1028del |
p.A341Sfs*56 |
Frameshift |
1/20 |
- |
1 |
1-27023921-G-T |
c.1027G>T |
p.A343S |
Missense |
1/20 |
- |
1 |
1-27023908-GGCTGCGGCGGCGGCA-G |
c.1029_1043del |
p.A345_A349del |
InFrameDeletion |
1/20 |
- |
2 |
1-27023923-AGCTGCGGCGGCGGCC-A |
c.1032_1046del |
p.A345_A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023927-TGCGGCGGCGGCCGCC-T |
c.1033_1047del |
p.A345_A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023932-G-GGCA |
c.1040_1041insAGC |
p.A349dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27023946-G-A |
c.1052G>A |
p.G351E |
Missense |
1/20 |
- |
1 |
1-27023949-G-C |
c.1055G>C |
p.G352A |
Missense |
1/20 |
- |
1 |
1-27023944-GGGAGGGGCCCAACAAA-G |
c.1055_1070del |
p.G352Afs*6 |
Frameshift |
1/20 |
- |
1 |
1-27023951-G-T |
c.1057G>T |
p.A353S |
Missense |
1/20 |
- |
1 |
1-27023947-AG-A |
c.1057del |
p.A353Pfs*10 |
Frameshift |
1/20 |
- |
1 |
1-27023957-C-T |
c.1063C>T |
p.Q355* |
Nonsense |
1/20 |
- |
1 |
1-27023969-C-T |
c.1075C>T |
p.H359Y |
Missense |
1/20 |
- |
2 |
1-27024001-CG-C |
c.1113del |
p.Q372Sfs*19 |
Frameshift |
1/20 |
- |
2 |
1-27024008-C-G |
c.1114C>G |
p.Q372E |
Missense |
1/20 |
- |
1 |
1-27024008-C-T |
c.1114C>T |
p.Q372* |
Nonsense |
1/20 |
- |
2 |
1-27024014-C-T |
c.1120C>T |
p.L374F |
Missense |
1/20 |
- |
1 |
1-27024017-G-A |
c.1123G>A |
p.A375T |
Missense |
1/20 |
- |
1 |
1-27028221-A-G |
c.1137+4190A>G |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27037154-T-A |
c.1137+13123T>A |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27037154-T-G |
c.1137+13123T>G |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27037575-A-G |
c.1137+13544A>G |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27039228-C-T |
c.1137+15197C>T |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27041714-T-C |
c.1138-14428T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27052080-G-A |
c.1138-4062G>A |
- |
IntronicSNV |
- |
1/19 |
2 |
1-27056157-G-A |
c.1153G>A |
p.D385N |
Missense |
2/20 |
- |
1 |
1-27056160-C-T |
c.1156C>T |
p.Q386* |
Nonsense |
2/20 |
- |
1 |
1-27056166-G-C |
c.1162G>C |
p.G388R |
Missense |
2/20 |
- |
1 |
1-27056170-A-C |
c.1166A>C |
p.K389T |
Missense |
2/20 |
- |
1 |
1-27056174-G-A |
c.1170G>A |
p.M390I |
Missense |
2/20 |
- |
1 |
1-27056175-A-T |
c.1171A>T |
p.R391* |
Nonsense |
2/20 |
- |
2 |
1-27056176-G-A |
c.1172G>A |
p.R391K |
Missense |
2/20 |
- |
1 |
1-27056179-C-A |
c.1175C>A |
p.P392H |
Missense |
2/20 |
- |
1 |
1-27056181-C-T |
c.1177C>T |
p.Q393* |
Nonsense |
2/20 |
- |
7 |
1-27056180-TCAGCCATATGG-T |
c.1178_1188del |
p.Q393Rfs*3 |
Frameshift |
2/20 |
- |
1 |
1-27056183-GCCATATGGCGGGACTAA-G |
c.1182_1198del |
p.Y395Ifs*222 |
Frameshift |
2/20 |
- |
1 |
1-27056189-T-A |
c.1185T>A |
p.Y395* |
Nonsense |
2/20 |
- |
2 |
1-27056189-T-G |
c.1185T>G |
p.Y395* |
Nonsense |
2/20 |
- |
2 |
1-27056191-G-A |
c.1187G>A |
p.G396D |
Missense |
2/20 |
- |
2 |
1-27056208-T-C |
c.1204T>C |
p.S402P |
Missense |
2/20 |
- |
1 |
1-27056209-C-A |
c.1205C>A |
p.S402* |
Nonsense |
2/20 |
- |
1 |
1-27056209-C-T |
c.1205C>T |
p.S402L |
Missense |
2/20 |
- |
1 |
1-27056210-G-A |
c.1206G>A |
p.S402= |
Synonymous |
2/20 |
- |
1 |
1-27056210-G-C |
c.1206G>C |
p.S402= |
Synonymous |
2/20 |
- |
1 |
1-27056211-C-T |
c.1207C>T |
p.Q403* |
Nonsense |
2/20 |
- |
1 |
1-27056216-A-T |
c.1212A>T |
p.Q404H |
Missense |
2/20 |
- |
2 |
1-27056216-A-C |
c.1212A>C |
p.Q404H |
Missense |
2/20 |
- |
1 |
1-27056220-G-A |
c.1216G>A |
p.G406R |
Missense |
2/20 |
- |
1 |
1-27056220-G-C |
c.1216G>C |
p.G406R |
Missense |
2/20 |
- |
1 |
1-27056228-G-T |
c.1224G>T |
p.P408= |
Synonymous |
2/20 |
- |
1 |
1-27056228-G-A |
c.1224G>A |
p.P408= |
Synonymous |
2/20 |
- |
1 |
1-27056228-G-C |
c.1224G>C |
p.P408= |
Synonymous |
2/20 |
- |
1 |
1-27056230-C-G |
c.1226C>G |
p.S409* |
Nonsense |
2/20 |
- |
2 |
1-27056236-C-T |
c.1232C>T |
p.P411L |
Missense |
2/20 |
- |
1 |
1-27056238-GC-G |
c.1234del |
p.Q412Sfs*21 |
Frameshift |
2/20 |
- |
1 |
1-27056236-CGCA-C |
c.1236_1238del |
p.Q413del |
InFrameDeletion |
2/20 |
- |
1 |
1-27056243-AG-A |
c.1241del |
p.G414Dfs*19 |
Frameshift |
2/20 |
- |
1 |
1-27056253-T-C |
c.1249T>C |
p.Y417H |
Missense |
2/20 |
- |
1 |
1-27056255-C-A |
c.1251C>A |
p.Y417* |
Nonsense |
2/20 |
- |
1 |
1-27056262-C-T |
c.1258C>T |
p.Q420* |
Nonsense |
2/20 |
- |
1 |
1-27056268-TA-GC |
c.1264_1265delinsGC |
p.Y422A |
Missense |
2/20 |
- |
1 |
1-27056271-GG-CA |
c.1267_1268delinsCA |
p.G423Q |
Missense |
2/20 |
- |
1 |
1-27056272-G-A |
c.1268G>A |
p.G423E |
Missense |
2/20 |
- |
1 |
1-27056272-G-T |
c.1268G>T |
p.G423V |
Missense |
2/20 |
- |
1 |
1-27056278-CAGA-C |
c.1274_1276del |
p.Q425_T426delinsP |
MultiAAMissense |
2/20 |
- |
1 |
1-27056282-CCCCGCAGCGG-C |
c.1278_1287del |
p.P427Tfs*3 |
Frameshift |
2/20 |
- |
1 |
1-27056285-G-A |
c.1281G>A |
p.P427= |
Synonymous |
2/20 |
- |
1 |
1-27056286-C-T |
c.1282C>T |
p.Q428* |
Nonsense |
2/20 |
- |
2 |
1-27056289-C-T |
c.1285C>T |
p.R429W |
Missense |
2/20 |
- |
1 |
1-27056290-G-A |
c.1286G>A |
p.R429Q |
Missense |
2/20 |
- |
1 |
1-27056293-A-G |
c.1289A>G |
p.Y430C |
Missense |
2/20 |
- |
2 |
1-27056296-C-A |
c.1292C>A |
p.P431Q |
Missense |
2/20 |
- |
1 |
1-27056296-C-T |
c.1292C>T |
p.P431L |
Missense |
2/20 |
- |
1 |
1-27056315-G-C |
c.1311G>C |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056315-G-A |
c.1311G>A |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056315-G-T |
c.1311G>T |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056313-C-A |
c.1309C>A |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056319-C-A |
c.1315C>A |
p.Q439K |
Missense |
2/20 |
- |
1 |
1-27056321-G-C |
c.1317G>C |
p.Q439H |
Missense |
2/20 |
- |
1 |
1-27056325-G-A |
c.1321G>A |
p.A441T |
Missense |
2/20 |
- |
1 |
1-27056325-GC-G |
c.1323del |
p.M442Wfs*177 |
Frameshift |
2/20 |
- |
1 |
1-27056333-C-T |
c.1329C>T |
p.G443= |
Synonymous |
2/20 |
- |
1 |
1-27056333-C-G |
c.1329C>G |
p.G443= |
Synonymous |
2/20 |
- |
1 |
1-27056333-C-A |
c.1329C>A |
p.G443= |
Synonymous |
2/20 |
- |
1 |
1-27056334-G-A |
c.1330G>A |
p.G444S |
Missense |
2/20 |
- |
2 |
1-27056340-TC-CT |
c.1336_1337delinsCT |
p.S446L |
Missense |
2/20 |
- |
1 |
1-27056341-C-CT |
c.1339dup |
p.Y447Lfs*176 |
Frameshift |
2/20 |
- |
1 |
1-27056343-T-TA |
c.1340dup |
p.Y447* |
Nonsense |
2/20 |
- |
1 |
1-27056342-TTA-T |
c.1341_1342del |
p.Q449Afs*173 |
Frameshift |
2/20 |
- |
1 |
1-27056345-T-G |
c.1341T>G |
p.Y447* |
Nonsense |
2/20 |
- |
1 |
1-27056347-CA-AC |
c.1343_1344delinsAC |
p.T448N |
Missense |
2/20 |
- |
1 |
1-27056349-C-T |
c.1345C>T |
p.Q449* |
Nonsense |
2/20 |
- |
1 |
1-27056353-A-AGATTCCTCCTTATGGACAACAAGGCCCCAGCG |
c.1350_1350+1insATTCCTCCTTATGGACAACAAGGCCCCAGCGG |
p.Y462Ffs*168 |
SpliceDonorInsertion |
- |
- |
1 |
1-27056366-T-G |
c.1350+12T>G |
- |
IntronicSNV |
- |
2/19 |
1 |
1-27057621-A-C |
c.1351-22A>C |
- |
IntronicSNV |
- |
2/19 |
1 |
1-27057621-A-T |
c.1351-22A>T |
- |
IntronicSNV |
- |
2/19 |
1 |
1-27057649-C-T |
c.1357C>T |
p.P453S |
Missense |
3/20 |
- |
1 |
1-27057656-G-A |
c.1364G>A |
p.G455E |
Missense |
3/20 |
- |
2 |
1-27057658-C-T |
c.1366C>T |
p.Q456* |
Nonsense |
3/20 |
- |
9 |
1-27057668-C-A |
c.1376C>A |
p.P459H |
Missense |
3/20 |
- |
1 |
1-27057669-C-CT |
c.1377_1378insT |
p.S460* |
Nonsense |
3/20 |
- |
1 |
1-27057665-G-GC |
c.1377dup |
p.S460Qfs*163 |
Frameshift |
3/20 |
- |
1 |
1-27057677-A-G |
c.1385A>G |
p.Y462C |
Missense |
3/20 |
- |
1 |
1-27057682-C-T |
c.1390C>T |
p.Q464* |
Nonsense |
3/20 |
- |
1 |
1-27057692-CA-C |
c.1400del |
p.Q467Rfs*152 |
Frameshift |
3/20 |
- |
1 |
1-27057694-A-C |
c.1402A>C |
p.T468P |
Missense |
3/20 |
- |
1 |
1-27057703-T-TA |
c.1412dup |
p.Y471* |
Nonsense |
3/20 |
- |
1 |
1-27057705-C-A |
c.1413C>A |
p.Y471* |
Nonsense |
3/20 |
- |
2 |
1-27057709-C-T |
c.1417C>T |
p.Q473* |
Nonsense |
3/20 |
- |
2 |
1-27057712-C-T |
c.1420C>T |
p.Q474* |
Nonsense |
3/20 |
- |
1 |
1-27057715-AG-GC |
c.1423_1424delinsGC |
p.S475A |
Missense |
3/20 |
- |
1 |
1-27057718-CCT-TAA |
c.1426_1428delinsTAA |
p.P476* |
Nonsense |
3/20 |
- |
1 |
1-27057718-CCT-C |
c.1428_1429del |
p.H477Pfs*145 |
Frameshift |
3/20 |
- |
1 |
1-27057720-T-TCG |
c.1429_1430insGC |
p.H477Rfs*143 |
Frameshift |
3/20 |
- |
1 |
1-27057724-C-T |
c.1432C>T |
p.P478S |
Missense |
3/20 |
- |
1 |
1-27057723-CCCT-C |
c.1433_1435del |
p.P478del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057727-C-T |
c.1435C>T |
p.Q479* |
Nonsense |
3/20 |
- |
4 |
1-27057727-CA-GC |
c.1435_1436delinsGC |
p.Q479A |
Missense |
3/20 |
- |
1 |
1-27057729-G-A |
c.1437G>A |
p.Q479= |
Synonymous |
3/20 |
- |
1 |
1-27057736-C-T |
c.1444C>T |
p.Q482* |
Nonsense |
3/20 |
- |
1 |
1-27057726-TCAG-T |
c.1445_1447del |
p.Q482del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057746-A-G |
c.1454A>G |
p.Y485C |
Missense |
3/20 |
- |
1 |
1-27057747-C-A |
c.1455C>A |
p.Y485* |
Nonsense |
3/20 |
- |
1 |
1-27057747-C-G |
c.1455C>G |
p.Y485* |
Nonsense |
3/20 |
- |
1 |
1-27057749-C-A |
c.1457C>A |
p.S486Y |
Missense |
3/20 |
- |
1 |
1-27057749-C-T |
c.1457C>T |
p.S486F |
Missense |
3/20 |
- |
1 |
1-27057751-C-T |
c.1459C>T |
p.Q487* |
Nonsense |
3/20 |
- |
1 |
1-27057754-C-T |
c.1462C>T |
p.Q488* |
Nonsense |
3/20 |
- |
1 |
1-27057758-C-T |
c.1466C>T |
p.P489L |
Missense |
3/20 |
- |
1 |
1-27057761-C-T |
c.1469C>T |
p.P490L |
Missense |
3/20 |
- |
1 |
1-27057766-C-T |
c.1474C>T |
p.Q492* |
Nonsense |
3/20 |
- |
1 |
1-27057770-C-G |
c.1478C>G |
p.T493S |
Missense |
3/20 |
- |
1 |
1-27057769-A-T |
c.1477A>T |
p.T493S |
Missense |
3/20 |
- |
1 |
1-27057772-C-A |
c.1480C>A |
p.P494T |
Missense |
3/20 |
- |
2 |
1-27057788-C-A |
c.1496C>A |
p.S499* |
Nonsense |
3/20 |
- |
1 |
1-27057793-C-T |
c.1501C>T |
p.Q501* |
Nonsense |
3/20 |
- |
2 |
1-27057796-C-T |
c.1504C>T |
p.Q502* |
Nonsense |
3/20 |
- |
2 |
1-27057802-C-T |
c.1510C>T |
p.P504S |
Missense |
3/20 |
- |
4 |
1-27057802-CCA-C |
c.1513_1514del |
p.Q505Vfs*117 |
Frameshift |
3/20 |
- |
1 |
1-27057805-C-T |
c.1513C>T |
p.Q505* |
Nonsense |
3/20 |
- |
1 |
1-27057806-A-T |
c.1514A>T |
p.Q505L |
Missense |
3/20 |
- |
1 |
1-27057809-C-G |
c.1517C>G |
p.S506C |
Missense |
3/20 |
- |
1 |
1-27057811-C-T |
c.1519C>T |
p.Q507* |
Nonsense |
3/20 |
- |
3 |
1-27057811-C-G |
c.1519C>G |
p.Q507E |
Missense |
3/20 |
- |
1 |
1-27057812-AACCACCAC-A |
c.1522_1529del |
p.P508Afs*112 |
Frameshift |
3/20 |
- |
1 |
1-27057817-C-T |
c.1525C>T |
p.P509S |
Missense |
3/20 |
- |
2 |
1-27057818-C-T |
c.1526C>T |
p.P509L |
Missense |
3/20 |
- |
1 |
1-27057826-C-T |
c.1534C>T |
p.Q512* |
Nonsense |
3/20 |
- |
1 |
1-27057830-C-T |
c.1538C>T |
p.S513F |
Missense |
3/20 |
- |
1 |
1-27057835-C-T |
c.1543C>T |
p.Q515* |
Nonsense |
3/20 |
- |
4 |
1-27057836-A-T |
c.1544A>T |
p.Q515L |
Missense |
3/20 |
- |
1 |
1-27057847-TCCCAGCAGCCATC-T |
c.1558_1570del |
p.Q520Sfs*95 |
Frameshift |
3/20 |
- |
1 |
1-27057853-C-A |
c.1561C>A |
p.Q521K |
Missense |
3/20 |
- |
1 |
1-27057854-A-G |
c.1562A>G |
p.Q521R |
Missense |
3/20 |
- |
1 |
1-27057862-C-A |
c.1570C>A |
p.Q524K |
Missense |
3/20 |
- |
1 |
1-27057874-C-T |
c.1582C>T |
p.Q528* |
Nonsense |
3/20 |
- |
4 |
1-27057877-C-T |
c.1585C>T |
p.Q529* |
Nonsense |
3/20 |
- |
3 |
1-27057873-TCAG-T |
c.1585_1587del |
p.Q529del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057885-G-A |
c.1593G>A |
p.P531= |
Synonymous |
3/20 |
- |
1 |
1-27057885-G-C |
c.1593G>C |
p.P531= |
Synonymous |
3/20 |
- |
1 |
1-27057885-G-T |
c.1593G>T |
p.P531= |
Synonymous |
3/20 |
- |
1 |
1-27057886-G-A |
c.1594G>A |
p.A532T |
Missense |
3/20 |
- |
1 |
1-27057887-C-T |
c.1595C>T |
p.A532V |
Missense |
3/20 |
- |
2 |
1-27057892-T-A |
c.1600T>A |
p.Y534N |
Missense |
3/20 |
- |
1 |
1-27057899-C-T |
c.1607C>T |
p.S536F |
Missense |
3/20 |
- |
1 |
1-27057901-C-T |
c.1609C>T |
p.Q537* |
Nonsense |
3/20 |
- |
4 |
1-27057904-C-T |
c.1612C>T |
p.Q538* |
Nonsense |
3/20 |
- |
5 |
1-27057914-C-A |
c.1622C>A |
p.T541K |
Missense |
3/20 |
- |
1 |
1-27057916-C-T |
c.1624C>T |
p.Q542* |
Nonsense |
3/20 |
- |
2 |
1-27057916-CA-GT |
c.1624_1625delinsGT |
p.Q542V |
Missense |
3/20 |
- |
1 |
1-27057919-C-A |
c.1627C>A |
p.Q543K |
Missense |
3/20 |
- |
1 |
1-27057928-C-A |
c.1636C>A |
p.Q546K |
Missense |
3/20 |
- |
3 |
1-27057923-A-AC |
c.1636dup |
p.Q546Pfs*77 |
Frameshift |
3/20 |
- |
1 |
1-27057929-A-G |
c.1637A>G |
p.Q546R |
Missense |
3/20 |
- |
1 |
1-27057931-AG-CT |
c.1639_1640inv |
p.S547L |
Missense |
3/20 |
- |
1 |
1-27057934-C-A |
c.1642C>A |
p.Q548K |
Missense |
3/20 |
- |
1 |
1-27057936-G-T |
c.1644G>T |
p.Q548H |
Missense |
3/20 |
- |
1 |
1-27057936-G-GC |
c.1650dup |
p.Y551Lfs*72 |
Frameshift |
3/20 |
- |
2 |
1-27057936-GC-G |
c.1650del |
p.Y551Tfs*68 |
Frameshift |
3/20 |
- |
5 |
1-27057942-C-CT |
c.1651dup |
p.Y551Lfs*72 |
Frameshift |
3/20 |
- |
1 |
1-27057947-C-CA |
c.1656dup |
p.Q553Tfs*70 |
Frameshift |
3/20 |
- |
1 |
1-27057948-CACAGCCACAG-C |
c.1656_1665del |
p.Q553Lfs*63 |
Frameshift |
3/20 |
- |
1 |
1-27057949-C-T |
c.1657C>T |
p.Q553* |
Nonsense |
3/20 |
- |
2 |
1-27057952-C-A |
c.1660C>A |
p.P554T |
Missense |
3/20 |
- |
1 |
1-27057955-C-T |
c.1663C>T |
p.Q555* |
Nonsense |
3/20 |
- |
1 |
1-27057961-C-T |
c.1669C>T |
p.Q557* |
Nonsense |
3/20 |
- |
2 |
1-27057970-T-TA |
c.1679dup |
p.Y560* |
Nonsense |
3/20 |
- |
1 |
1-27057972-C-A |
c.1680C>A |
p.Y560* |
Nonsense |
3/20 |
- |
2 |
1-27057972-C-G |
c.1680C>G |
p.Y560* |
Nonsense |
3/20 |
- |
1 |
1-27057976-C-T |
c.1684C>T |
p.Q562* |
Nonsense |
3/20 |
- |
1 |
1-27057979-C-T |
c.1687C>T |
p.Q563* |
Nonsense |
3/20 |
- |
1 |
1-27057981-G-GC |
c.1690dup |
p.Q564Pfs*59 |
Frameshift |
3/20 |
- |
1 |
1-27057988-C-T |
c.1696C>T |
p.Q566* |
Nonsense |
3/20 |
- |
1 |
1-27057990-G-A |
c.1698G>A |
p.Q566= |
Synonymous |
3/20 |
- |
1 |
1-27057991-C-A |
c.1699C>A |
p.Q567K |
Missense |
3/20 |
- |
1 |
1-27057996-AGCACCCTC-A |
c.1706_1713del |
p.A569Dfs*51 |
Frameshift |
3/20 |
- |
1 |
1-27057999-ACC-A |
c.1709_1710del |
p.P570Lfs*52 |
Frameshift |
3/20 |
- |
1 |
1-27058003-T-C |
c.1711T>C |
p.S571P |
Missense |
3/20 |
- |
1 |
1-27058004-C-T |
c.1712C>T |
p.S571L |
Missense |
3/20 |
- |
1 |
1-27058006-A-T |
c.1714A>T |
p.T572S |
Missense |
3/20 |
- |
1 |
1-27058007-C-T |
c.1715C>T |
p.T572M |
Missense |
3/20 |
- |
1 |
1-27058011-C-T |
c.1719C>T |
p.L573= |
Synonymous |
3/20 |
- |
1 |
1-27058011-C-G |
c.1719C>G |
p.L573= |
Synonymous |
3/20 |
- |
1 |
1-27058011-C-A |
c.1719C>A |
p.L573= |
Synonymous |
3/20 |
- |
1 |
1-27058013-C-T |
c.1721C>T |
p.S574F |
Missense |
3/20 |
- |
1 |
1-27058015-C-T |
c.1723C>T |
p.Q575* |
Nonsense |
3/20 |
- |
4 |
1-27058025-C-A |
c.1733C>A |
p.A578E |
Missense |
3/20 |
- |
1 |
1-27058025-C-G |
c.1733C>G |
p.A578G |
Missense |
3/20 |
- |
1 |
1-27058029-T-A |
c.1737T>A |
p.Y579* |
Nonsense |
3/20 |
- |
1 |
1-27058029-T-G |
c.1737T>G |
p.Y579* |
Nonsense |
3/20 |
- |
1 |
1-27058030-C-T |
c.1738C>T |
p.P580S |
Missense |
3/20 |
- |
1 |
1-27058031-C-T |
c.1739C>T |
p.P580L |
Missense |
3/20 |
- |
1 |
1-27058033-C-T |
c.1741C>T |
p.Q581* |
Nonsense |
3/20 |
- |
5 |
1-27058039-C-T |
c.1747C>T |
p.Q583* |
Nonsense |
3/20 |
- |
1 |
1-27058042-T-C |
c.1750T>C |
p.S584P |
Missense |
3/20 |
- |
1 |
1-27058045-C-T |
c.1753C>T |
p.Q585* |
Nonsense |
3/20 |
- |
3 |
1-27058045-CAGCAGTCCCAGCA-C |
c.1755_1767del |
p.Q586Lfs*29 |
Frameshift |
3/20 |
- |
1 |
1-27058048-C-T |
c.1756C>T |
p.Q586* |
Nonsense |
3/20 |
- |
2 |
1-27058044-TCAG-T |
c.1756_1758del |
p.Q586del |
InFrameDeletion |
3/20 |
- |
1 |
1-27058048-C-A |
c.1756C>A |
p.Q586K |
Missense |
3/20 |
- |
1 |
1-27058050-AG-A |
c.1758del |
p.Q586Hfs*33 |
Frameshift |
3/20 |
- |
1 |
1-27058051-TCCCAGCAAACTGC-T |
c.1761_1773del |
p.Q588Ifs*27 |
Frameshift |
3/20 |
- |
1 |
1-27058057-C-T |
c.1765C>T |
p.Q589* |
Nonsense |
3/20 |
- |
2 |
1-27058070-C-T |
c.1778C>T |
p.S593F |
Missense |
3/20 |
- |
1 |
1-27058072-C-T |
c.1780C>T |
p.Q594* |
Nonsense |
3/20 |
- |
1 |
1-27058075-C-T |
c.1783C>T |
p.Q595* |
Nonsense |
3/20 |
- |
1 |
1-27058079-G-A |
c.1787G>A |
p.R596H |
Missense |
3/20 |
- |
1 |
1-27059167-G-T |
c.1804G>T |
p.E602* |
Nonsense |
4/20 |
- |
1 |
1-27059169-G-GC |
c.1807dup |
p.L603Pfs*20 |
Frameshift |
4/20 |
- |
1 |
1-27059176-C-T |
c.1813C>T |
p.Q605* |
Nonsense |
4/20 |
- |
2 |
1-27059183-C-A |
c.1820C>A |
p.S607* |
Nonsense |
4/20 |
- |
2 |
1-27059183-C-G |
c.1820C>G |
p.S607* |
Nonsense |
4/20 |
- |
3 |
1-27059194-C-T |
c.1831C>T |
p.Q611* |
Nonsense |
4/20 |
- |
2 |
1-27059197-G-T |
c.1834G>T |
p.A612S |
Missense |
4/20 |
- |
1 |
1-27059203-T-G |
c.1840T>G |
p.S614A |
Missense |
4/20 |
- |
1 |
1-27059204-C-A |
c.1841C>A |
p.S614* |
Nonsense |
4/20 |
- |
4 |
1-27059204-C-G |
c.1841C>G |
p.S614* |
Nonsense |
4/20 |
- |
4 |
1-27059204-C-T |
c.1841C>T |
p.S614L |
Missense |
4/20 |
- |
1 |
1-27059203-TCAGCCCC-T |
c.1842_1848del |
p.A615Qfs*2 |
Frameshift |
4/20 |
- |
1 |
1-27059207-C-A |
c.1844C>A |
p.A615D |
Missense |
4/20 |
- |
1 |
1-27059209-C-T |
c.1846C>T |
p.P616S |
Missense |
4/20 |
- |
1 |
1-27059210-C-T |
c.1847C>T |
p.P616L |
Missense |
4/20 |
- |
1 |
1-27059206-GC-G |
c.1848del |
p.S617Qfs*2 |
Frameshift |
4/20 |
- |
1 |
1-27059212-CT-C |
c.1849del |
p.S617Qfs*2 |
Frameshift |
4/20 |
- |
1 |
1-27059213-C-A |
c.1850C>A |
p.S617* |
Nonsense |
4/20 |
- |
1 |
1-27059213-C-G |
c.1850C>G |
p.S617* |
Nonsense |
4/20 |
- |
2 |
1-27059215-A-G |
c.1852A>G |
p.M618V |
Missense |
4/20 |
- |
1 |
1-27059218-A-AG |
c.1855_1856insG |
p.T619Sfs*4 |
Frameshift |
4/20 |
- |
1 |
1-27059224-CA-C |
c.1861del |
p.S621Vfs*8 |
Frameshift |
4/20 |
- |
1 |
1-27059224-AGTAAGGGAGG-A |
c.1863_1872del |
p.G623Kfs*3 |
Frameshift |
4/20 |
- |
1 |
1-27059227-A-T |
c.1864A>T |
p.K622* |
Nonsense |
4/20 |
- |
1 |
1-27059236-C-T |
c.1873C>T |
p.Q625* |
Nonsense |
4/20 |
- |
1 |
1-27059244-AT-A |
c.1881del |
p.D627Efs*2 |
Frameshift |
4/20 |
- |
1 |
1-27059244-T-TAGGG |
c.1882_1883insGGGA |
p.M628Rfs*15 |
Frameshift |
4/20 |
- |
1 |
1-27059260-C-T |
c.1897C>T |
p.Q633* |
Nonsense |
4/20 |
- |
3 |
1-27059262-AGT-A |
c.1899_1900del |
p.Q633Hfs*8 |
Frameshift |
4/20 |
- |
1 |
1-27059264-C-G |
c.1901C>G |
p.S634* |
Nonsense |
4/20 |
- |
3 |
1-27059264-C-A |
c.1901C>A |
p.S634* |
Nonsense |
4/20 |
- |
2 |
1-27059266-A-T |
c.1903A>T |
p.R635* |
Nonsense |
4/20 |
- |
1 |
1-27059267-G-T |
c.1904G>T |
p.R635I |
Missense |
4/20 |
- |
2 |
1-27059270-C-G |
c.1907C>G |
p.P636R |
Missense |
4/20 |
- |
1 |
1-27059281-C-T |
c.1918C>T |
p.P640S |
Missense |
4/20 |
- |
1 |
1-27061942-C-A |
c.1920+2659C>A |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27064382-G-T |
c.1920+5099G>T |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27067417-G-A |
c.1920+8134G>A |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27068455-TACAGTCAACATCAGTTATTCTGAAAAGATAGGAATTGGAAGGTACAGAATACCCACTCC-T |
c.1920+9172_1920+9230del |
- |
Unclassified |
- |
4/19 |
1 |
1-27073924-C-T |
c.1921-13423C>T |
- |
IntronicSNV |
- |
4/19 |
2 |
1-27078366-G-A |
c.1921-8981G>A |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27079894-A-G |
c.1921-7453A>G |
- |
IntronicSNV |
- |
4/19 |
2 |
1-27085562-T-C |
c.1921-1785T>C |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27087360-C-T |
c.1934C>T |
p.S645L |
Missense |
5/20 |
- |
1 |
1-27087360-C-A |
c.1934C>A |
p.S645* |
Nonsense |
5/20 |
- |
1 |
1-27087360-C-G |
c.1934C>G |
p.S645* |
Nonsense |
5/20 |
- |
1 |
1-27087364-AGATGACCTCCCCATGGGGACAGAAGGAGCTCT-A |
c.1941_1972del |
p.D647Efs*18 |
Frameshift |
5/20 |
- |
1 |
1-27087368-G-T |
c.1942G>T |
p.D648Y |
Missense |
5/20 |
- |
1 |
1-27087371-C-A |
c.1945C>A |
p.L649I |
Missense |
5/20 |
- |
1 |
1-27087371-C-T |
c.1945C>T |
p.L649F |
Missense |
5/20 |
- |
1 |
1-27087371-C-CT |
c.1946dup |
p.M651Hfs*25 |
Frameshift |
5/20 |
- |
1 |
1-27087374-C-T |
c.1948C>T |
p.P650S |
Missense |
5/20 |
- |
1 |
1-27087375-C-CCATGGAGGT |
c.1954_1955insAGGTCATGG |
p.M651_G652insEVM |
InFrameInsertion |
5/20 |
- |
1 |
1-27087384-C-T |
c.1958C>T |
p.T653I |
Missense |
5/20 |
- |
1 |
1-27087384-C-G |
c.1958C>G |
p.T653R |
Missense |
5/20 |
- |
1 |
1-27087386-G-T |
c.1960G>T |
p.E654* |
Nonsense |
5/20 |
- |
1 |
1-27087396-CTG-C |
c.1970_1971del |
p.L657Qfs*18 |
Frameshift |
5/20 |
- |
1 |
1-27087395-C-CT |
c.1970dup |
p.S658Efs*18 |
Frameshift |
5/20 |
- |
1 |
1-27087397-G-GCTCTA |
c.1971_1972insCTCTA |
p.S658Lfs*2 |
Frameshift |
5/20 |
- |
1 |
1-27087410-A-G |
c.1984A>G |
p.S662G |
Missense |
5/20 |
- |
1 |
1-27087411-G-C |
c.1985G>C |
p.S662T |
Missense |
5/20 |
- |
1 |
1-27087417-C-A |
c.1991C>A |
p.S664* |
Nonsense |
5/20 |
- |
1 |
1-27087417-C-G |
c.1991C>G |
p.S664* |
Nonsense |
5/20 |
- |
1 |
1-27087422-GATTTC-G |
c.1996_2000del |
p.I666Qfs*8 |
Frameshift |
5/20 |
- |
1 |
1-27087426-C-A |
c.2000C>A |
p.S667Y |
Missense |
5/20 |
- |
1 |
1-27087428-A-AAT |
c.2002_2003insAT |
p.S668Nfs*75 |
Frameshift |
5/20 |
- |
1 |
1-27087440-G-T |
c.2014G>T |
p.E672* |
Nonsense |
5/20 |
- |
1 |
1-27087441-A-G |
c.2015A>G |
p.E672G |
Missense |
5/20 |
- |
1 |
1-27087443-C-T |
c.2017C>T |
p.Q673* |
Nonsense |
5/20 |
- |
3 |
1-27087448-TAATCCAGCTC-T |
c.2024_2033del |
p.N675Sfs*64 |
Frameshift |
5/20 |
- |
1 |
1-27087456-C-G |
c.2030C>G |
p.A677G |
Missense |
5/20 |
- |
3 |
1-27087456-C-A |
c.2030C>A |
p.A677D |
Missense |
5/20 |
- |
1 |
1-27087458-C-T |
c.2032C>T |
p.Q678* |
Nonsense |
5/20 |
- |
1 |
1-27087464-C-T |
c.2038C>T |
p.P680S |
Missense |
5/20 |
- |
1 |
1-27087476-C-G |
c.2050C>G |
p.H684D |
Missense |
5/20 |
- |
1 |
1-27087495-C-T |
c.2069C>T |
p.P690L |
Missense |
5/20 |
- |
1 |
1-27087503-C-T |
c.2077C>T |
p.R693* |
Nonsense |
5/20 |
- |
8 |
1-27087504-G-A |
c.2078G>A |
p.R693Q |
Missense |
5/20 |
- |
1 |
1-27087504-GA-AT |
c.2078_2079delinsAT |
p.R693H |
Missense |
5/20 |
- |
1 |
1-27087517-G-A |
c.2091G>A |
p.P697= |
Synonymous |
5/20 |
- |
1 |
1-27087518-T-G |
c.2092T>G |
p.S698A |
Missense |
5/20 |
- |
2 |
1-27087518-TCC-GAG |
c.2092_2094delinsGAG |
p.S698E |
Missense |
5/20 |
- |
1 |
1-27087519-C-T |
c.2093C>T |
p.S698F |
Missense |
5/20 |
- |
1 |
1-27087520-C-CT |
c.2094_2095insT |
p.P699Sfs*118 |
Frameshift |
5/20 |
- |
1 |
1-27087521-C-T |
c.2095C>T |
p.P699S |
Missense |
5/20 |
- |
1 |
1-27087525-T-C |
c.2099T>C |
p.V700A |
Missense |
5/20 |
- |
1 |
1-27087536-G-A |
c.2110G>A |
p.A704T |
Missense |
5/20 |
- |
1 |
1-27087539-A-G |
c.2113A>G |
p.S705G |
Missense |
5/20 |
- |
1 |
1-27087548-C-T |
c.2122C>T |
p.Q708* |
Nonsense |
5/20 |
- |
4 |
1-27087549-A-C |
c.2123A>C |
p.Q708P |
Missense |
5/20 |
- |
2 |
1-27087552-C-G |
c.2126C>G |
p.S709C |
Missense |
5/20 |
- |
1 |
1-27087554-C-T |
c.2128C>T |
p.R710C |
Missense |
5/20 |
- |
1 |
1-27087554-CGC-TGA |
c.2128_2130delinsTGA |
p.R710* |
Nonsense |
5/20 |
- |
1 |
1-27087558-C-A |
c.2132C>A |
p.S711* |
Nonsense |
5/20 |
- |
1 |
1-27087558-C-G |
c.2132C>G |
p.S711* |
Nonsense |
5/20 |
- |
2 |
1-27087568-C-CT |
c.2143dup |
p.S715Ffs*102 |
Frameshift |
5/20 |
- |
1 |
1-27087575-G-T |
c.2149G>T |
p.A717S |
Missense |
5/20 |
- |
1 |
1-27087579-C-T |
c.2153C>T |
p.A718V |
Missense |
5/20 |
- |
1 |
1-27087581-G-A |
c.2155G>A |
p.V719M |
Missense |
5/20 |
- |
1 |
1-27087878-AACCAGAT-A |
c.2165_2171del |
p.N722Sfs*18 |
Frameshift |
6/20 |
- |
1 |
1-27087880-C-T |
c.2167C>T |
p.Q723* |
Nonsense |
6/20 |
- |
1 |
1-27087891-CTCGGCCACCCA-C |
c.2178_2188del |
p.R727Wfs*86 |
Frameshift |
6/20 |
- |
1 |
1-27087892-TCGGCCACCCA-T |
c.2179_2188del |
p.R727Vfs*12 |
Frameshift |
6/20 |
- |
2 |
1-27087893-G-A |
c.2180G>A |
p.R727Q |
Missense |
6/20 |
- |
1 |
1-27087893-GG-AT |
c.2180_2181delinsAT |
p.R727H |
Missense |
6/20 |
- |
1 |
1-27087893-CGGCCACCCAG-C |
c.2180_2189del |
p.R727Lfs*12 |
Frameshift |
6/20 |
- |
1 |
1-27087894-GGCCACCCAGTGGCC-G |
c.2181_2194del |
p.P728Vfs*84 |
Frameshift |
6/20 |
- |
1 |
1-27087890-CTCGGCCACCCAGTGGCCAG-C |
c.2182_2200del |
p.P728Tfs*8 |
Frameshift |
6/20 |
- |
1 |
1-27087895-C-T |
c.2182C>T |
p.P728S |
Missense |
6/20 |
- |
1 |
1-27087895-C-G |
c.2182C>G |
p.P728A |
Missense |
6/20 |
- |
1 |
1-27087894-GC-G |
c.2183del |
p.P728Hfs*14 |
Frameshift |
6/20 |
- |
1 |
1-27087896-CCACCCAG-C |
c.2183_2189del |
p.P728Lfs*12 |
Frameshift |
6/20 |
- |
1 |
1-27087899-CCCAG-C |
c.2186_2189del |
p.P729Lfs*12 |
Frameshift |
6/20 |
- |
1 |
1-27087899-CCCAGT-C |
c.2186_2190del |
p.P729Rfs*86 |
Frameshift |
6/20 |
- |
1 |
1-27087900-C-CT |
c.2187_2188insT |
p.S730* |
Nonsense |
6/20 |
- |
1 |
1-27087904-G-A |
c.2191G>A |
p.G731S |
Missense |
6/20 |
- |
1 |
1-27087911-C-T |
c.2198C>T |
p.S733L |
Missense |
6/20 |
- |
2 |
1-27087917-G-A |
c.2204G>A |
p.S735N |
Missense |
6/20 |
- |
2 |
1-27087927-T-C |
c.2214T>C |
p.H738= |
Synonymous |
6/20 |
- |
1 |
1-27087931-TC-T |
c.2220del |
p.M741* |
Frameshift |
6/20 |
- |
1 |
1-27087936-GA-G |
c.2225del |
p.N742Tfs*91 |
Frameshift |
6/20 |
- |
1 |
1-27087941-A-T |
c.2228A>T |
p.Q743L |
Missense |
6/20 |
- |
1 |
1-27087944-C-G |
c.2231C>G |
p.S744* |
Nonsense |
6/20 |
- |
2 |
1-27087953-C-T |
c.2240C>T |
p.A747V |
Missense |
6/20 |
- |
1 |
1-27087961-C-T |
c.2248C>T |
p.R750* |
Nonsense |
6/20 |
- |
4 |
1-27087961-C-G |
c.2248C>G |
p.R750G |
Missense |
6/20 |
- |
1 |
1-27088546-A-T |
c.2252-97A>T |
- |
IntronicSNV |
- |
6/19 |
1 |
1-27088597-C-T |
c.2252-46C>T |
- |
IntronicSNV |
- |
6/19 |
1 |
1-27088646-A-T |
c.2255A>T |
p.Y752F |
Missense |
7/20 |
- |
1 |
1-27088647-T-A |
c.2256T>A |
p.Y752* |
Nonsense |
7/20 |
- |
1 |
1-27088647-T-G |
c.2256T>G |
p.Y752* |
Nonsense |
7/20 |
- |
2 |
1-27088650-G-A |
c.2259G>A |
p.M753I |
Missense |
7/20 |
- |
1 |
1-27088656-G-GT |
c.2265_2266insT |
p.N756* |
Nonsense |
7/20 |
- |
2 |
1-27088654-AG-A |
c.2265del |
p.N756Tfs*77 |
Frameshift |
7/20 |
- |
1 |
1-27088658-A-G |
c.2267A>G |
p.N756S |
Missense |
7/20 |
- |
1 |
1-27088659-C-A |
c.2268C>A |
p.N756K |
Missense |
7/20 |
- |
1 |
1-27088658-AC-A |
c.2272del |
p.Q758Rfs*75 |
Frameshift |
7/20 |
- |
1 |
1-27088663-C-T |
c.2272C>T |
p.Q758* |
Nonsense |
7/20 |
- |
1 |
1-27088666-A-G |
c.2275A>G |
p.M759V |
Missense |
7/20 |
- |
1 |
1-27088668-GC-G |
c.2281del |
p.Q761Sfs*72 |
Frameshift |
7/20 |
- |
1 |
1-27088673-A-C |
c.2282A>C |
p.Q761P |
Missense |
7/20 |
- |
1 |
1-27088675-T-G |
c.2284T>G |
p.Y762D |
Missense |
7/20 |
- |
1 |
1-27088675-TA-CC |
c.2284_2285delinsCC |
p.Y762P |
Missense |
7/20 |
- |
1 |
1-27088676-A-AC |
c.2286dup |
p.S763Qfs*54 |
Frameshift |
7/20 |
- |
1 |
1-27088681-T-C |
c.2290T>C |
p.S764P |
Missense |
7/20 |
- |
1 |
1-27088682-C-T |
c.2291C>T |
p.S764F |
Missense |
7/20 |
- |
1 |
1-27088681-TC-T |
c.2296del |
p.Q766Sfs*67 |
Frameshift |
7/20 |
- |
2 |
1-27088681-T-TC |
c.2296dup |
p.Q766Pfs*51 |
Frameshift |
7/20 |
- |
1 |
1-27088688-A-C |
c.2297A>C |
p.Q766P |
Missense |
7/20 |
- |
1 |
1-27088694-G-A |
c.2303G>A |
p.G768D |
Missense |
7/20 |
- |
2 |
1-27088696-T-C |
c.2305T>C |
p.S769P |
Missense |
7/20 |
- |
1 |
1-27088698-A-T |
c.2307A>T |
p.S769= |
Synonymous |
7/20 |
- |
1 |
1-27088698-A-G |
c.2307A>G |
p.S769= |
Synonymous |
7/20 |
- |
1 |
1-27088698-A-C |
c.2307A>C |
p.S769= |
Synonymous |
7/20 |
- |
1 |
1-27088703-T-A |
c.2312T>A |
p.L771* |
Nonsense |
7/20 |
- |
1 |
1-27088705-T-C |
c.2314T>C |
p.S772P |
Missense |
7/20 |
- |
1 |
1-27088706-C-A |
c.2315C>A |
p.S772Y |
Missense |
7/20 |
- |
1 |
1-27088708-C-T |
c.2317C>T |
p.P773S |
Missense |
7/20 |
- |
1 |
1-27088709-C-A |
c.2318C>A |
p.P773Q |
Missense |
7/20 |
- |
1 |
1-27088709-C-T |
c.2318C>T |
p.P773L |
Missense |
7/20 |
- |
1 |
1-27088711-C-T |
c.2320C>T |
p.R774C |
Missense |
7/20 |
- |
1 |
1-27088714-C-T |
c.2323C>T |
p.Q775* |
Nonsense |
7/20 |
- |
1 |
1-27088723-G-A |
c.2332G>A |
p.G778R |
Missense |
7/20 |
- |
2 |
1-27088723-G-C |
c.2332G>C |
p.G778R |
Missense |
7/20 |
- |
1 |
1-27088726-G-T |
c.2335G>T |
p.G779* |
Nonsense |
7/20 |
- |
1 |
1-27088734-TA-T |
c.2343del |
p.H782Tfs*51 |
Frameshift |
7/20 |
- |
1 |
1-27088739-AC-A |
c.2348del |
p.T783Kfs*50 |
Frameshift |
7/20 |
- |
1 |
1-27088742-G-A |
c.2351G>A |
p.G784D |
Missense |
7/20 |
- |
1 |
1-27088745-T-TG |
c.2357dup |
p.S787Lfs*30 |
Frameshift |
7/20 |
- |
1 |
1-27088748-GC-TT |
c.2357_2358delinsTT |
p.G786V |
Missense |
7/20 |
- |
1 |
1-27088745-TGGGCTCCTACCAGCAGAACTCCATG-T |
c.2358_2382del |
p.S787Afs*38 |
Frameshift |
7/20 |
- |
1 |
1-27088755-C-A |
c.2364C>A |
p.Y788* |
Nonsense |
7/20 |
- |
1 |
1-27088755-C-G |
c.2364C>G |
p.Y788* |
Nonsense |
7/20 |
- |
1 |
1-27088756-C-T |
c.2365C>T |
p.Q789* |
Nonsense |
7/20 |
- |
1 |
1-27088759-C-T |
c.2368C>T |
p.Q790* |
Nonsense |
7/20 |
- |
1 |
1-27088761-G-A |
c.2370G>A |
p.Q790= |
Synonymous |
7/20 |
- |
1 |
1-27088762-A-G |
c.2371A>G |
p.N791D |
Missense |
7/20 |
- |
1 |
1-27088766-C-T |
c.2375C>T |
p.S792F |
Missense |
7/20 |
- |
1 |
1-27088772-G-A |
c.2381G>A |
p.G794E |
Missense |
7/20 |
- |
1 |
1-27088778-A-G |
c.2387A>G |
p.Y796C |
Missense |
7/20 |
- |
2 |
1-27088786-C-G |
c.2395C>G |
p.Q799E |
Missense |
7/20 |
- |
1 |
1-27088786-C-T |
c.2395C>T |
p.Q799* |
Nonsense |
7/20 |
- |
1 |
1-27088790-G-A |
c.2399G>A |
p.G800E |
Missense |
7/20 |
- |
1 |
1-27088787-AG-A |
c.2402del |
p.G801Vfs*32 |
Frameshift |
7/20 |
- |
3 |
1-27088793-G-T |
c.2402G>T |
p.G801V |
Missense |
7/20 |
- |
2 |
1-27088787-A-AG |
c.2402dup |
p.Q802Sfs*15 |
Frameshift |
7/20 |
- |
1 |
1-27088795-C-T |
c.2404C>T |
p.Q802* |
Nonsense |
7/20 |
- |
1 |
1-27088806-A-T |
c.2415A>T |
p.P805= |
Synonymous |
7/20 |
- |
1 |
1-27088901-G-C |
c.2419+91G>C |
- |
IntronicSNV |
- |
7/19 |
1 |
1-27089446-G-C |
c.2420-18G>C |
- |
IntronicSNV |
- |
7/19 |
1 |
1-27089477-G-C |
c.2433G>C |
p.R811S |
Missense |
8/20 |
- |
1 |
1-27089477-G-T |
c.2433G>T |
p.R811S |
Missense |
8/20 |
- |
1 |
1-27089484-A-C |
c.2440A>C |
p.N814H |
Missense |
8/20 |
- |
1 |
1-27089485-AACTATAAT-A |
c.2441_2448del |
p.N814Sfs*55 |
Frameshift |
8/20 |
- |
1 |
1-27089485-ACTATAATGCCTTG-A |
c.2443_2455del |
p.Y815Pfs*14 |
Frameshift |
8/20 |
- |
1 |
1-27089489-T-A |
c.2445T>A |
p.Y815* |
Nonsense |
8/20 |
- |
2 |
1-27089489-T-G |
c.2445T>G |
p.Y815* |
Nonsense |
8/20 |
- |
2 |
1-27089487-TATA-T |
c.2446_2448del |
p.N816del |
InFrameDeletion |
8/20 |
- |
1 |
1-27089492-T-G |
c.2448T>G |
p.N816K |
Missense |
8/20 |
- |
1 |
1-27089492-T-A |
c.2448T>A |
p.N816K |
Missense |
8/20 |
- |
1 |
1-27089516-C-CT |
c.2472_2473insT |
p.S825* |
Nonsense |
8/20 |
- |
1 |
1-27089512-AC-A |
c.2472del |
p.S825Vfs*8 |
Frameshift |
8/20 |
- |
1 |
1-27089518-G-A |
c.2474G>A |
p.S825N |
Missense |
8/20 |
- |
1 |
1-27089521-GC-G |
c.2477del |
p.A826Efs*7 |
Frameshift |
8/20 |
- |
1 |
1-27089528-G-C |
c.2484G>C |
p.M828I |
Missense |
8/20 |
- |
1 |
1-27089528-G-A |
c.2484G>A |
p.M828I |
Missense |
8/20 |
- |
1 |
1-27089528-G-T |
c.2484G>T |
p.M828I |
Missense |
8/20 |
- |
1 |
1-27089536-G-C |
c.2492G>C |
p.G831A |
Missense |
8/20 |
- |
1 |
1-27089542-AC-A |
c.2502del |
p.M835Wfs*24 |
Frameshift |
8/20 |
- |
2 |
1-27089547-CA-C |
c.2503del |
p.M835Wfs*24 |
Frameshift |
8/20 |
- |
1 |
1-27089550-G-C |
c.2506G>C |
p.G836R |
Missense |
8/20 |
- |
1 |
1-27089554-C-A |
c.2510C>A |
p.A837D |
Missense |
8/20 |
- |
1 |
1-27089554-C-T |
c.2510C>T |
p.A837V |
Missense |
8/20 |
- |
1 |
1-27089555-CCGGAGGTCAAATGCA-C |
c.2511_2525del |
p.G839_G843del |
InFrameDeletion |
8/20 |
- |
1 |
1-27089553-GCCGGAGGTCAAATGCATGGACAGCCTGGCATC-G |
c.2512_2543del |
p.G838Tfs*23 |
Frameshift |
8/20 |
- |
1 |
1-27089557-G-C |
c.2513G>C |
p.G838A |
Missense |
8/20 |
- |
1 |
1-27089557-G-A |
c.2513G>A |
p.G838E |
Missense |
8/20 |
- |
1 |
1-27089562-C-T |
c.2518C>T |
p.Q840* |
Nonsense |
8/20 |
- |
2 |
1-27089565-A-C |
c.2521A>C |
p.M841L |
Missense |
8/20 |
- |
1 |
1-27089567-TG-T |
c.2523del |
p.M841Ifs*18 |
Frameshift |
8/20 |
- |
1 |
1-27089572-G-A |
c.2528G>A |
p.G843E |
Missense |
8/20 |
- |
1 |
1-27089576-GCCTGGCATCCCAC-G |
c.2534_2546del |
p.P845Lfs*10 |
Frameshift |
8/20 |
- |
1 |
1-27089585-C-T |
c.2541C>T |
p.I847= |
Synonymous |
8/20 |
- |
1 |
1-27089586-C-T |
c.2542C>T |
p.P848S |
Missense |
8/20 |
- |
1 |
1-27089593-A-G |
c.2549A>G |
p.Y850C |
Missense |
8/20 |
- |
1 |
1-27089596-G-A |
c.2552G>A |
p.G851D |
Missense |
8/20 |
- |
1 |
1-27089596-G-T |
c.2552G>T |
p.G851V |
Missense |
8/20 |
- |
1 |
1-27089604-C-G |
c.2560C>G |
p.P854A |
Missense |
8/20 |
- |
1 |
1-27089608-C-A |
c.2564C>A |
p.P855Q |
Missense |
8/20 |
- |
1 |
1-27089611-G-A |
c.2567G>A |
p.G856E |
Missense |
8/20 |
- |
2 |
1-27089611-G-T |
c.2567G>T |
p.G856V |
Missense |
8/20 |
- |
1 |
1-27089618-G-T |
c.2574G>T |
p.M858I |
Missense |
8/20 |
- |
1 |
1-27089620-GTCACGCCTCCATGGGCAACCGGCCTTATGGCCCTAACA-G |
c.2578_2615del |
p.H860Gfs*63 |
Frameshift |
8/20 |
- |
1 |
1-27089625-G-A |
c.2581G>A |
p.A861T |
Missense |
8/20 |
- |
3 |
1-27089638-A-G |
c.2594A>G |
p.N865S |
Missense |
8/20 |
- |
1 |
1-27089641-G-A |
c.2597G>A |
p.R866Q |
Missense |
8/20 |
- |
1 |
1-27089659-TG-T |
c.2617del |
p.A873Pfs*18 |
Frameshift |
8/20 |
- |
1 |
1-27089665-A-G |
c.2621A>G |
p.N874S |
Missense |
8/20 |
- |
1 |
1-27089670-C-T |
c.2626C>T |
p.P876S |
Missense |
8/20 |
- |
2 |
1-27089687-A-AC |
c.2643_2644insC |
p.G882Rfs*54 |
Frameshift |
8/20 |
- |
1 |
1-27089688-G-T |
c.2644G>T |
p.G882W |
Missense |
8/20 |
- |
1 |
1-27089697-C-T |
c.2653C>T |
p.P885S |
Missense |
8/20 |
- |
1 |
1-27089704-CA-AT |
c.2660_2661delinsAT |
p.P887H |
Missense |
8/20 |
- |
1 |
1-27089705-AG-A |
c.2666del |
p.G889Afs*2 |
Frameshift |
8/20 |
- |
3 |
1-27089711-GC-G |
c.2667del |
p.M890* |
Frameshift |
8/20 |
- |
1 |
1-27089712-AT-TA |
c.2668_2669delinsTA |
p.M890* |
Nonsense |
8/20 |
- |
1 |
1-27089712-A-G |
c.2668A>G |
p.M890V |
Missense |
8/20 |
- |
2 |
1-27089718-C-T |
c.2674C>T |
p.R892W |
Missense |
8/20 |
- |
1 |
1-27089725-C-T |
c.2681C>T |
p.T894I |
Missense |
8/20 |
- |
1 |
1-27089727-C-T |
c.2683C>T |
p.Q895* |
Nonsense |
8/20 |
- |
1 |
1-27089724-AC-A |
c.2683del |
p.Q895Kfs*24 |
Frameshift |
8/20 |
- |
1 |
1-27089730-G-T |
c.2686G>T |
p.E896* |
Nonsense |
8/20 |
- |
3 |
1-27089736-G-A |
c.2692G>A |
p.A898T |
Missense |
8/20 |
- |
1 |
1-27089742-G-A |
c.2698G>A |
p.A900T |
Missense |
8/20 |
- |
2 |
1-27089758-C-G |
c.2714C>G |
p.A905G |
Missense |
8/20 |
- |
1 |
1-27089762-C-G |
c.2718C>G |
p.N906K |
Missense |
8/20 |
- |
4 |
1-27089762-C-A |
c.2718C>A |
p.N906K |
Missense |
8/20 |
- |
2 |
1-27089767-T-A |
c.2723T>A |
p.I908N |
Missense |
8/20 |
- |
1 |
1-27089769-C-T |
c.2725C>T |
p.Q909* |
Nonsense |
8/20 |
- |
2 |
1-27089767-TC-T |
c.2725del |
p.Q909Kfs*10 |
Frameshift |
8/20 |
- |
1 |
1-27089774-AC-A |
c.2730del |
p.N910Kfs*9 |
Frameshift |
8/20 |
- |
1 |
1-27089774-C-CT |
c.2730_2731insT |
p.R911* |
SpliceDonorInsertion |
8/20 |
- |
1 |
1-27089774-C-CG |
c.2730_2731insG |
p.R911Efs*25 |
SpliceDonorInsertion |
8/20 |
- |
1 |
1-27089773-A-AC |
c.2730dup |
p.R911Qfs*25 |
SpliceDonorInsertion |
8/20 |
- |
1 |
1-27089774-C-CA |
c.2731dup |
p.R911Kfs*25 |
SpliceDonorInsertion |
8/20 |
- |
1 |
1-27089775-A-AG |
c.2732+1dup |
- |
SpliceDonorInsertion |
- |
8/19 |
1 |
1-27089778-T-A |
c.2732+2T>A |
- |
IntronicSNV |
- |
8/19 |
1 |
1-27092710-AG-A |
c.2733del |
p.R911Sfs*8 |
Frameshift |
9/20 |
- |
1 |
1-27092713-C-T |
c.2734C>T |
p.P912S |
Missense |
9/20 |
- |
3 |
1-27092719-GG-AT |
c.2740_2741delinsAT |
p.G914I |
Missense |
9/20 |
- |
1 |
1-27092726-C-T |
c.2747C>T |
p.P916L |
Missense |
9/20 |
- |
1 |
1-27092723-A-AC |
c.2748dup |
p.N917Qfs*19 |
Frameshift |
9/20 |
- |
1 |
1-27092731-A-G |
c.2752A>G |
p.M918V |
Missense |
9/20 |
- |
1 |
1-27092733-G-C |
c.2754G>C |
p.M918I |
Missense |
9/20 |
- |
1 |
1-27092733-G-A |
c.2754G>A |
p.M918I |
Missense |
9/20 |
- |
1 |
1-27092733-G-T |
c.2754G>T |
p.M918I |
Missense |
9/20 |
- |
1 |
1-27092737-C-T |
c.2758C>T |
p.Q920* |
Nonsense |
9/20 |
- |
2 |
1-27092764-C-T |
c.2785C>T |
p.P929S |
Missense |
9/20 |
- |
2 |
1-27092764-C-A |
c.2785C>A |
p.P929T |
Missense |
9/20 |
- |
1 |
1-27092765-C-T |
c.2786C>T |
p.P929L |
Missense |
9/20 |
- |
1 |
1-27092770-G-T |
c.2791G>T |
p.G931* |
Nonsense |
9/20 |
- |
1 |
1-27092770-G-A |
c.2791G>A |
p.G931R |
Missense |
9/20 |
- |
1 |
1-27092770-G-C |
c.2791G>C |
p.G931R |
Missense |
9/20 |
- |
1 |
1-27092773-C-T |
c.2794C>T |
p.Q932* |
Nonsense |
9/20 |
- |
1 |
1-27092780-T-C |
c.2801T>C |
p.I934T |
Missense |
9/20 |
- |
1 |
1-27092795-G-GC |
c.2817dup |
p.M940Hfs*67 |
Frameshift |
9/20 |
- |
1 |
1-27092797-A-G |
c.2818A>G |
p.M940V |
Missense |
9/20 |
- |
1 |
1-27092804-A-G |
c.2825A>G |
p.N942S |
Missense |
9/20 |
- |
1 |
1-27092806-C-A |
c.2827C>A |
p.P943T |
Missense |
9/20 |
- |
1 |
1-27092807-C-T |
c.2828C>T |
p.P943L |
Missense |
9/20 |
- |
1 |
1-27092809-C-T |
c.2830C>T |
p.Q944* |
Nonsense |
9/20 |
- |
7 |
1-27092812-G-T |
c.2833G>T |
p.G945* |
Nonsense |
9/20 |
- |
2 |
1-27092810-AG-A |
c.2834del |
p.G945Dfs*23 |
Frameshift |
9/20 |
- |
1 |
1-27092814-AC-A |
c.2840del |
p.P947Hfs*21 |
Frameshift |
9/20 |
- |
1 |
1-27092814-A-AC |
c.2840dup |
p.Y948Ifs*59 |
Frameshift |
9/20 |
- |
2 |
1-27092820-A-T |
c.2841A>T |
p.P947= |
Synonymous |
9/20 |
- |
1 |
1-27092820-A-G |
c.2841A>G |
p.P947= |
Synonymous |
9/20 |
- |
1 |
1-27092820-A-C |
c.2841A>C |
p.P947= |
Synonymous |
9/20 |
- |
1 |
1-27092847-AC-A |
c.2868del |
p.N956Kfs*12 |
Frameshift |
9/20 |
- |
1 |
1-27092849-A-G |
c.2870A>G |
p.N957S |
Missense |
9/20 |
- |
2 |
1-27092852-CT-AA |
c.2873_2874delinsAA |
p.S958* |
Nonsense |
9/20 |
- |
1 |
1-27092852-C-T |
c.2873C>T |
p.S958F |
Missense |
9/20 |
- |
1 |
1-27092857-G-A |
c.2878G>A |
p.G960R |
Missense |
9/20 |
- |
1 |
1-27092963-CCAGA-C |
c.2894_2897del |
p.P965Rfs*2 |
Frameshift |
10/20 |
- |
1 |
1-27092966-AGATGATGGGCCTTG-A |
c.2899_2912del |
p.M967Gfs*35 |
Frameshift |
10/20 |
- |
1 |
1-27092975-GCCTTGGGGATGTAAAGTTAA-G |
c.2908_2927del |
p.L970Sfs*30 |
Frameshift |
10/20 |
- |
1 |
1-27092977-C-G |
c.2908C>G |
p.L970V |
Missense |
10/20 |
- |
1 |
1-27092979-TG-T |
c.2914del |
p.D972Mfs*2 |
Frameshift |
10/20 |
- |
2 |
1-27092986-G-A |
c.2917G>A |
p.V973I |
Missense |
10/20 |
- |
1 |
1-27092989-A-T |
c.2920A>T |
p.K974* |
Nonsense |
10/20 |
- |
1 |
1-27092994-AACTCC-A |
c.2927_2931del |
p.T976Sfs*29 |
Frameshift |
10/20 |
- |
1 |
1-27093011-T-C |
c.2942T>C |
p.M981T |
Missense |
10/20 |
- |
1 |
1-27093012-GAAC-G |
c.2949_2951del |
p.N983del |
InFrameDeletion |
10/20 |
- |
2 |
1-27093028-G-A |
c.2959G>A |
p.G987R |
Missense |
10/20 |
- |
1 |
1-27093028-G-C |
c.2959G>C |
p.G987R |
Missense |
10/20 |
- |
1 |
1-27093043-G-T |
c.2974G>T |
p.E992* |
Nonsense |
10/20 |
- |
1 |
1-27093054-C-CT |
c.2985_2986insT |
p.K996* |
Nonsense |
10/20 |
- |
1 |
1-27093058-G-A |
c.2988+1G>A |
- |
IntronicSNV |
- |
10/19 |
1 |
1-27093657-A-G |
c.2988+600A>G |
- |
IntronicSNV |
- |
10/19 |
2 |
1-27094156-A-G |
c.2989-125A>G |
- |
IntronicSNV |
- |
10/19 |
2 |
1-27094308-G-T |
c.3016G>T |
p.E1006* |
Nonsense |
11/20 |
- |
1 |
1-27094308-G-A |
c.3016G>A |
p.E1006K |
Missense |
11/20 |
- |
1 |
1-27094309-A-G |
c.3017A>G |
p.E1006G |
Missense |
11/20 |
- |
1 |
1-27094312-A-AC |
c.3020_3021insC |
p.K1007Nfs*7 |
Frameshift |
11/20 |
- |
1 |
1-27094320-A-T |
c.3028A>T |
p.K1010* |
Nonsense |
11/20 |
- |
1 |
1-27094322-AGTTGTATGAG-A |
c.3030_3039del |
p.K1010Nfs*26 |
Frameshift |
11/20 |
- |
1 |
1-27094325-G-T |
c.3033G>T |
p.L1011F |
Missense |
11/20 |
- |
1 |
1-27094328-T-A |
c.3036T>A |
p.Y1012* |
Nonsense |
11/20 |
- |
1 |
1-27094328-T-G |
c.3036T>G |
p.Y1012* |
Nonsense |
11/20 |
- |
1 |
1-27094334-G-T |
c.3042G>T |
p.L1014= |
Synonymous |
11/20 |
- |
1 |
1-27094334-G-A |
c.3042G>A |
p.L1014= |
Synonymous |
11/20 |
- |
1 |
1-27094334-G-C |
c.3042G>C |
p.L1014= |
Synonymous |
11/20 |
- |
1 |
1-27094332-C-T |
c.3040C>T |
p.L1014= |
Synonymous |
11/20 |
- |
1 |
1-27094336-G-C |
c.3044G>C |
p.G1015A |
Missense |
11/20 |
- |
1 |
1-27094338-G-A |
c.3046G>A |
p.G1016S |
Missense |
11/20 |
- |
1 |
1-27094347-G-T |
c.3055G>T |
p.E1019* |
Nonsense |
11/20 |
- |
1 |
1-27094347-G-A |
c.3055G>A |
p.E1019K |
Missense |
11/20 |
- |
1 |
1-27094347-G-C |
c.3055G>C |
p.E1019Q |
Missense |
11/20 |
- |
1 |
1-27094351-G-A |
c.3059G>A |
p.R1020K |
Missense |
11/20 |
- |
2 |
1-27094355-G-C |
c.3063G>C |
p.K1021N |
Missense |
11/20 |
- |
1 |
1-27094355-G-T |
c.3063G>T |
p.K1021N |
Missense |
11/20 |
- |
1 |
1-27094359-T-A |
c.3067T>A |
p.W1023R |
Missense |
11/20 |
- |
1 |
1-27094359-T-C |
c.3067T>C |
p.W1023R |
Missense |
11/20 |
- |
1 |
1-27094362-G-A |
c.3070G>A |
p.V1024M |
Missense |
11/20 |
- |
1 |
1-27094365-G-A |
c.3073G>A |
p.D1025N |
Missense |
11/20 |
- |
1 |
1-27094368-C-G |
c.3076C>G |
p.R1026G |
Missense |
11/20 |
- |
1 |
1-27094384-C-T |
c.3092C>T |
p.T1031I |
Missense |
11/20 |
- |
2 |
1-27094386-G-T |
c.3094G>T |
p.E1032* |
Nonsense |
11/20 |
- |
1 |
1-27094401-G-C |
c.3109G>C |
p.G1037R |
Missense |
11/20 |
- |
1 |
1-27094420-C-CT |
c.3129dup |
p.V1044Cfs*3 |
Frameshift |
11/20 |
- |
1 |
1-27094429-G-A |
c.3137G>A |
p.R1046K |
Missense |
11/20 |
- |
1 |
1-27094440-G-T |
c.3148G>T |
p.D1050Y |
Missense |
11/20 |
- |
1 |
1-27094442-C-A |
c.3150C>A |
p.D1050E |
Missense |
11/20 |
- |
2 |
1-27094447-A-AT |
c.3156dup |
p.R1053Sfs*52 |
Frameshift |
11/20 |
- |
1 |
1-27094449-C-T |
c.3157C>T |
p.R1053C |
Missense |
11/20 |
- |
1 |
1-27094450-G-A |
c.3158G>A |
p.R1053H |
Missense |
11/20 |
- |
3 |
1-27094450-GC-G |
c.3160del |
p.L1054Sfs*5 |
Frameshift |
11/20 |
- |
1 |
1-27094452-C-T |
c.3160C>T |
p.L1054F |
Missense |
11/20 |
- |
1 |
1-27094454-CTA-C |
c.3164_3165del |
p.Y1055Cfs*49 |
Frameshift |
11/20 |
- |
1 |
1-27094457-T-A |
c.3165T>A |
p.Y1055* |
Nonsense |
11/20 |
- |
1 |
1-27094457-T-G |
c.3165T>G |
p.Y1055* |
Nonsense |
11/20 |
- |
1 |
1-27094462-C-CT |
c.3171dup |
p.V1058Cfs*47 |
Frameshift |
11/20 |
- |
1 |
1-27094467-AAGG-A |
c.3178_3180del |
p.E1060del |
InFrameDeletion |
11/20 |
- |
2 |
1-27094477-G-T |
c.3185G>T |
p.G1062V |
Missense |
11/20 |
- |
1 |
1-27094477-G-GT |
c.3186dup |
p.G1063Wfs*42 |
Frameshift |
11/20 |
- |
1 |
1-27094486-C-T |
c.3194C>T |
p.T1065I |
Missense |
11/20 |
- |
1 |
1-27094488-C-G |
c.3196C>G |
p.Q1066E |
Missense |
11/20 |
- |
1 |
1-27094488-C-T |
c.3196C>T |
p.Q1066* |
Nonsense |
11/20 |
- |
4 |
1-27094489-A-G |
c.3197A>G |
p.Q1066R |
Missense |
11/20 |
- |
1 |
1-27095125-G-T |
c.3198+635G>T |
- |
IntronicSNV |
- |
11/19 |
1 |
1-27097393-C-CT |
c.3199-216dup |
- |
IntronicInsertion |
- |
11/19 |
1 |
1-27097515-A-G |
c.3199-95A>G |
- |
IntronicSNV |
- |
11/19 |
1 |
1-27097611-T-G |
c.3200T>G |
p.V1067G |
Missense |
12/20 |
- |
1 |
1-27097611-T-C |
c.3200T>C |
p.V1067A |
Missense |
12/20 |
- |
1 |
1-27097617-A-G |
c.3206A>G |
p.K1069R |
Missense |
12/20 |
- |
1 |
1-27097624-A-AT |
c.3213_3214insT |
p.K1072* |
Nonsense |
12/20 |
- |
1 |
1-27097621-CA-C |
c.3216del |
p.K1072Nfs*21 |
Frameshift |
12/20 |
- |
6 |
1-27097621-C-CA |
c.3216dup |
p.W1073Mfs*32 |
Frameshift |
12/20 |
- |
5 |
1-27097628-TG-GC |
c.3217_3218delinsGC |
p.W1073A |
Missense |
12/20 |
- |
1 |
1-27097628-T-A |
c.3217T>A |
p.W1073R |
Missense |
12/20 |
- |
1 |
1-27097628-T-C |
c.3217T>C |
p.W1073R |
Missense |
12/20 |
- |
1 |
1-27097629-G-T |
c.3218G>T |
p.W1073L |
Missense |
12/20 |
- |
1 |
1-27097630-G-A |
c.3219G>A |
p.W1073* |
Nonsense |
12/20 |
- |
2 |
1-27097631-C-T |
c.3220C>T |
p.R1074W |
Missense |
12/20 |
- |
4 |
1-27097632-G-A |
c.3221G>A |
p.R1074Q |
Missense |
12/20 |
- |
2 |
1-27097631-CG-C |
c.3223del |
p.E1075Nfs*18 |
Frameshift |
12/20 |
- |
1 |
1-27097641-C-A |
c.3230C>A |
p.A1077E |
Missense |
12/20 |
- |
1 |
1-27097658-G-C |
c.3247G>C |
p.G1083R |
Missense |
12/20 |
- |
1 |
1-27097665-C-G |
c.3254C>G |
p.S1085* |
Nonsense |
12/20 |
- |
2 |
1-27097665-C-A |
c.3254C>A |
p.S1085* |
Nonsense |
12/20 |
- |
1 |
1-27097676-GC-G |
c.3267del |
p.S1090Afs*3 |
Frameshift |
12/20 |
- |
1 |
1-27097686-T-C |
c.3275T>C |
p.L1092S |
Missense |
12/20 |
- |
1 |
1-27097687-G-T |
c.3276G>T |
p.L1092F |
Missense |
12/20 |
- |
1 |
1-27097687-G-C |
c.3276G>C |
p.L1092F |
Missense |
12/20 |
- |
1 |
1-27097690-A-AT |
c.3279_3280insT |
p.K1094* |
Nonsense |
12/20 |
- |
1 |
1-27097691-A-G |
c.3280A>G |
p.K1094E |
Missense |
12/20 |
- |
1 |
1-27097687-GA-G |
c.3281del |
p.K1094Sfs*67 |
Frameshift |
12/20 |
- |
3 |
1-27097692-A-AG |
c.3282dup |
p.Q1095Afs*10 |
Frameshift |
12/20 |
- |
1 |
1-27097694-C-T |
c.3283C>T |
p.Q1095* |
Nonsense |
12/20 |
- |
1 |
1-27097698-A-G |
c.3287A>G |
p.Y1096C |
Missense |
12/20 |
- |
1 |
1-27097704-A-T |
c.3293A>T |
p.Q1098L |
Missense |
12/20 |
- |
1 |
1-27097709-C-T |
c.3298C>T |
p.L1100F |
Missense |
12/20 |
- |
1 |
1-27097710-T-G |
c.3299T>G |
p.L1100R |
Missense |
12/20 |
- |
1 |
1-27097707-GTC-G |
c.3300_3301del |
p.Y1101Cfs*3 |
Frameshift |
12/20 |
- |
1 |
1-27097711-CTA-C |
c.3302_3303del |
p.Y1101Cfs*3 |
Frameshift |
12/20 |
- |
1 |
1-27097717-C-G |
c.3306C>G |
p.A1102= |
Synonymous |
12/20 |
- |
1 |
1-27097717-C-A |
c.3306C>A |
p.A1102= |
Synonymous |
12/20 |
- |
1 |
1-27097717-C-T |
c.3306C>T |
p.A1102= |
Synonymous |
12/20 |
- |
1 |
1-27097719-T-C |
c.3308T>C |
p.F1103S |
Missense |
12/20 |
- |
1 |
1-27097721-G-A |
c.3310G>A |
p.E1104K |
Missense |
12/20 |
- |
1 |
1-27097733-G-T |
c.3322G>T |
p.E1108* |
Nonsense |
12/20 |
- |
1 |
1-27097733-G-A |
c.3322G>A |
p.E1108K |
Missense |
12/20 |
- |
1 |
1-27097734-GAA-G |
c.3323_3324del |
p.E1108Afs*14 |
Frameshift |
12/20 |
- |
1 |
1-27097737-G-A |
c.3326G>A |
p.R1109Q |
Missense |
12/20 |
- |
1 |
1-27097750-TC-T |
c.3344del |
p.P1115Qfs*46 |
Frameshift |
12/20 |
- |
2 |
1-27097770-CT-AG |
c.3359_3360inv |
p.A1120E |
Missense |
12/20 |
- |
1 |
1-27097788-C-G |
c.3377C>G |
p.S1126C |
Missense |
12/20 |
- |
1 |
1-27097788-C-T |
c.3377C>T |
p.S1126F |
Missense |
12/20 |
- |
1 |
1-27097790-C-T |
c.3379C>T |
p.Q1127* |
Nonsense |
12/20 |
- |
2 |
1-27097795-CA-C |
c.3386del |
p.K1129Rfs*32 |
Frameshift |
12/20 |
- |
1 |
1-27097802-C-T |
c.3391C>T |
p.Q1131* |
Nonsense |
12/20 |
- |
1 |
1-27097800-TC-T |
c.3391del |
p.Q1131Sfs*30 |
Frameshift |
12/20 |
- |
1 |
1-27097804-G-GC |
c.3395dup |
p.P1133Sfs*60 |
Frameshift |
12/20 |
- |
1 |
1-27097808-C-G |
c.3397C>G |
p.P1133A |
Missense |
12/20 |
- |
1 |
1-27097809-CCT-C |
c.3402_3403del |
p.P1135Cfs*57 |
Frameshift |
12/20 |
- |
1 |
1-27097815-CCT-C |
c.3404_3405del |
p.P1135Rfs*57 |
SpliceDonorDeletion |
12/20 |
- |
1 |
1-27097817-G-A |
c.3406G>A |
p.A1136T |
Missense |
12/20 |
- |
3 |
1-27097818-G-T |
c.3406+1G>T |
- |
IntronicSNV |
- |
12/19 |
2 |
1-27098991-C-T |
c.3407C>T |
p.A1136V |
Missense |
13/20 |
- |
1 |
1-27098992-G-A |
c.3408G>A |
p.A1136= |
Synonymous |
13/20 |
- |
2 |
1-27098993-G-T |
c.3409G>T |
p.G1137* |
Nonsense |
13/20 |
- |
1 |
1-27098997-C-A |
c.3413C>A |
p.S1138* |
Nonsense |
13/20 |
- |
1 |
1-27099000-G-T |
c.3416G>T |
p.G1139V |
Missense |
13/20 |
- |
1 |
1-27099008-C-T |
c.3424C>T |
p.Q1142* |
Nonsense |
13/20 |
- |
2 |
1-27099017-C-T |
c.3433C>T |
p.Q1145* |
Nonsense |
13/20 |
- |
1 |
1-27099020-A-G |
c.3436A>G |
p.T1146A |
Missense |
13/20 |
- |
1 |
1-27099024-C-T |
c.3440C>T |
p.P1147L |
Missense |
13/20 |
- |
1 |
1-27099022-TC-T |
c.3442del |
p.Q1148Sfs*13 |
Frameshift |
13/20 |
- |
1 |
1-27099030-C-G |
c.3446C>G |
p.S1149* |
Nonsense |
13/20 |
- |
2 |
1-27099030-C-A |
c.3446C>A |
p.S1149* |
Nonsense |
13/20 |
- |
1 |
1-27099037-C-CA |
c.3454dup |
p.S1152Kfs*41 |
Frameshift |
13/20 |
- |
1 |
1-27099044-CA-C |
c.3460del |
p.M1154Wfs*7 |
Frameshift |
13/20 |
- |
1 |
1-27099045-AT-A |
c.3461del |
p.M1154Rfs*7 |
Frameshift |
13/20 |
- |
1 |
1-27099045-TGGCAGAAGGAG-T |
c.3463_3473del |
p.A1155Rfs*34 |
Frameshift |
13/20 |
- |
1 |
1-27099048-C-A |
c.3464C>A |
p.A1155E |
Missense |
13/20 |
- |
1 |
1-27099050-G-A |
c.3466G>A |
p.E1156K |
Missense |
13/20 |
- |
1 |
1-27099061-C-CT |
c.3479dup |
p.L1160Ffs*33 |
Frameshift |
13/20 |
- |
1 |
1-27099063-T-TA |
c.3482dup |
p.P1162Afs*31 |
Frameshift |
13/20 |
- |
1 |
1-27099068-C-T |
c.3484C>T |
p.P1162S |
Missense |
13/20 |
- |
1 |
1-27099072-C-T |
c.3488C>T |
p.P1163L |
Missense |
13/20 |
- |
1 |
1-27099083-TC-CT |
c.3499_3500delinsCT |
p.S1167L |
Missense |
13/20 |
- |
1 |
1-27099089-C-G |
c.3505C>G |
p.P1169A |
Missense |
13/20 |
- |
1 |
1-27099092-C-T |
c.3508C>T |
p.H1170Y |
Missense |
13/20 |
- |
1 |
1-27099089-CCACA-C |
c.3508_3511del |
p.H1170Vfs*9 |
Frameshift |
13/20 |
- |
1 |
1-27099089-CCA-C |
c.3510_3511del |
p.H1170Qfs*22 |
Frameshift |
13/20 |
- |
1 |
1-27099098-C-T |
c.3514C>T |
p.Q1172* |
Nonsense |
13/20 |
- |
4 |
1-27099098-CA-GC |
c.3514_3515delinsGC |
p.Q1172A |
Missense |
13/20 |
- |
1 |
1-27099098-C-G |
c.3514C>G |
p.Q1172E |
Missense |
13/20 |
- |
1 |
1-27099102-TC-T |
c.3524del |
p.P1175Hfs*5 |
Frameshift |
13/20 |
- |
2 |
1-27099102-T-TC |
c.3524dup |
p.L1176Ifs*17 |
Frameshift |
13/20 |
- |
2 |
1-27099108-C-CA |
c.3525dup |
p.L1176Ifs*17 |
Frameshift |
13/20 |
- |
1 |
1-27099109-AT-A |
c.3527del |
p.L1176Cfs*4 |
Frameshift |
13/20 |
- |
1 |
1-27099113-C-G |
c.3529C>G |
p.P1177A |
Missense |
13/20 |
- |
1 |
1-27099124-G-A |
c.3539+1G>A |
- |
IntronicSNV |
- |
13/19 |
2 |
1-27099124-G-C |
c.3539+1G>C |
- |
IntronicSNV |
- |
13/19 |
1 |
1-27099309-C-G |
c.3546C>G |
p.S1182R |
Missense |
14/20 |
- |
1 |
1-27099309-C-A |
c.3546C>A |
p.S1182R |
Missense |
14/20 |
- |
1 |
1-27099307-A-C |
c.3544A>C |
p.S1182R |
Missense |
14/20 |
- |
1 |
1-27099325-C-T |
c.3562C>T |
p.Q1188* |
Nonsense |
14/20 |
- |
1 |
1-27099336-TA-T |
c.3575del |
p.N1192Mfs*14 |
Frameshift |
14/20 |
- |
1 |
1-27099340-G-C |
c.3577G>C |
p.D1193H |
Missense |
14/20 |
- |
1 |
1-27099341-A-G |
c.3578A>G |
p.D1193G |
Missense |
14/20 |
- |
1 |
1-27099346-A-G |
c.3583A>G |
p.S1195G |
Missense |
14/20 |
- |
1 |
1-27099347-G-GT |
c.3585dup |
p.D1196* |
Nonsense |
14/20 |
- |
1 |
1-27099349-G-A |
c.3586G>A |
p.D1196N |
Missense |
14/20 |
- |
1 |
1-27099352-T-C |
c.3589T>C |
p.S1197P |
Missense |
14/20 |
- |
3 |
1-27099355-A-T |
c.3592A>T |
p.T1198S |
Missense |
14/20 |
- |
1 |
1-27099368-G-A |
c.3605G>A |
p.R1202Q |
Missense |
14/20 |
- |
3 |
1-27099397-C-T |
c.3634C>T |
p.Q1212* |
Nonsense |
14/20 |
- |
5 |
1-27099392-GGTATCAGCCCA-G |
c.3634_3644del |
p.Q1212Efs*4 |
Frameshift |
14/20 |
- |
1 |
1-27099397-C-A |
c.3634C>A |
p.Q1212K |
Missense |
14/20 |
- |
1 |
1-27099403-A-G |
c.3640A>G |
p.S1214G |
Missense |
14/20 |
- |
1 |
1-27099408-G-C |
c.3645G>C |
p.M1215I |
Missense |
14/20 |
- |
1 |
1-27099408-G-A |
c.3645G>A |
p.M1215I |
Missense |
14/20 |
- |
1 |
1-27099408-G-T |
c.3645G>T |
p.M1215I |
Missense |
14/20 |
- |
1 |
1-27099419-ACATGATGGGGCGCATGTCCTATGAGC-A |
c.3659_3684del |
p.M1220Kfs*2 |
Frameshift |
14/20 |
- |
1 |
1-27099423-G-A |
c.3660G>A |
p.M1220I |
Missense |
14/20 |
- |
1 |
1-27099430-C-T |
c.3667C>T |
p.R1223C |
Missense |
14/20 |
- |
2 |
1-27099440-A-G |
c.3677A>G |
p.Y1226C |
Missense |
14/20 |
- |
1 |
1-27099440-A-AT |
c.3678dup |
p.E1227* |
Nonsense |
14/20 |
- |
1 |
1-27099442-G-T |
c.3679G>T |
p.E1227* |
Nonsense |
14/20 |
- |
1 |
1-27099445-C-T |
c.3682C>T |
p.P1228S |
Missense |
14/20 |
- |
1 |
1-27099454-G-A |
c.3691G>A |
p.D1231N |
Missense |
14/20 |
- |
1 |
1-27099462-T-A |
c.3699T>A |
p.Y1233* |
Nonsense |
14/20 |
- |
1 |
1-27099462-T-G |
c.3699T>G |
p.Y1233* |
Nonsense |
14/20 |
- |
1 |
1-27099464-G-T |
c.3701G>T |
p.G1234V |
Missense |
14/20 |
- |
1 |
1-27099470-T-A |
c.3707T>A |
p.M1236K |
Missense |
14/20 |
- |
1 |
1-27099470-TGA-T |
c.3709_3710del |
p.R1237Efs*6 |
Frameshift |
14/20 |
- |
1 |
1-27099472-AG-TA |
c.3709_3710delinsTA |
p.R1237* |
Nonsense |
14/20 |
- |
1 |
1-27099474-G-A |
c.3711G>A |
p.R1237= |
Synonymous |
14/20 |
- |
1 |
1-27099472-A-C |
c.3709A>C |
p.R1237= |
Synonymous |
14/20 |
- |
1 |
1-27099478-G-A |
c.3715G>A |
p.A1239T |
Missense |
14/20 |
- |
2 |
1-27099479-G-A |
c.3715+1G>A |
- |
IntronicSNV |
- |
14/19 |
1 |
1-27099830-C-G |
c.3716-7C>G |
- |
IntronicSNV |
- |
14/19 |
1 |
1-27099830-C-T |
c.3716-7C>T |
- |
IntronicSNV |
- |
14/19 |
1 |
1-27099831-G-A |
c.3716-6G>A |
- |
IntronicSNV |
- |
14/19 |
1 |
1-27099837-C-T |
c.3716C>T |
p.A1239V |
Missense |
15/20 |
- |
1 |
1-27099849-A-T |
c.3728A>T |
p.D1243V |
Missense |
15/20 |
- |
1 |
1-27099851-C-T |
c.3730C>T |
p.P1244S |
Missense |
15/20 |
- |
1 |
1-27099861-C-T |
c.3740C>T |
p.S1247F |
Missense |
15/20 |
- |
1 |
1-27099860-TCCTCAGGGCAGGG-T |
c.3742_3754del |
p.S1248Pfs*17 |
Frameshift |
15/20 |
- |
1 |
1-27099869-C-T |
c.3748C>T |
p.Q1250* |
Nonsense |
15/20 |
- |
1 |
1-27099877-C-CT |
c.3756_3757insT |
p.N1253* |
Nonsense |
15/20 |
- |
1 |
1-27099881-G-A |
c.3760G>A |
p.G1254S |
Missense |
15/20 |
- |
4 |
1-27099884-G-A |
c.3763G>A |
p.G1255R |
Missense |
15/20 |
- |
1 |
1-27099884-G-C |
c.3763G>C |
p.G1255R |
Missense |
15/20 |
- |
1 |
1-27099885-G-A |
c.3764G>A |
p.G1255E |
Missense |
15/20 |
- |
1 |
1-27099893-TG-T |
c.3772del |
p.D1258Tfs*11 |
Frameshift |
15/20 |
- |
1 |
1-27099905-C-T |
c.3784C>T |
p.R1262C |
Missense |
15/20 |
- |
1 |
1-27099906-G-A |
c.3785G>A |
p.R1262H |
Missense |
15/20 |
- |
1 |
1-27099914-G-A |
c.3793G>A |
p.G1265S |
Missense |
15/20 |
- |
2 |
1-27099915-G-T |
c.3794G>T |
p.G1265V |
Missense |
15/20 |
- |
1 |
1-27099926-G-A |
c.3805G>A |
p.G1269R |
Missense |
15/20 |
- |
1 |
1-27099935-G-A |
c.3814G>A |
p.A1272T |
Missense |
15/20 |
- |
1 |
1-27099936-C-T |
c.3815C>T |
p.A1272V |
Missense |
15/20 |
- |
3 |
1-27099941-G-A |
c.3820G>A |
p.G1274R |
Missense |
15/20 |
- |
1 |
1-27099947-C-T |
c.3826C>T |
p.R1276* |
Nonsense |
15/20 |
- |
16 |
1-27099950-C-T |
c.3829C>T |
p.Q1277* |
Nonsense |
15/20 |
- |
1 |
1-27099952-G-GCACTACCC |
c.3836_3837insCCCCACTA |
p.Y1281Tfs*11 |
Frameshift |
15/20 |
- |
1 |
1-27099958-T-A |
c.3837T>A |
p.Y1279* |
Nonsense |
15/20 |
- |
1 |
1-27099958-T-G |
c.3837T>G |
p.Y1279* |
Nonsense |
15/20 |
- |
1 |
1-27099961-C-T |
c.3840C>T |
p.P1280= |
Synonymous |
15/20 |
- |
1 |
1-27099961-C-G |
c.3840C>G |
p.P1280= |
Synonymous |
15/20 |
- |
1 |
1-27099961-C-A |
c.3840C>A |
p.P1280= |
Synonymous |
15/20 |
- |
1 |
1-27099963-A-T |
c.3842A>T |
p.Y1281F |
Missense |
15/20 |
- |
1 |
1-27099963-A-G |
c.3842A>G |
p.Y1281C |
Missense |
15/20 |
- |
1 |
1-27099965-G-T |
c.3844G>T |
p.G1282* |
Nonsense |
15/20 |
- |
1 |
1-27099967-A-AT |
c.3846_3847insT |
p.G1283Wfs*4 |
Frameshift |
15/20 |
- |
1 |
1-27099968-G-A |
c.3847G>A |
p.G1283S |
Missense |
15/20 |
- |
1 |
1-27099974-T-TA |
c.3854dup |
p.Y1285* |
Nonsense |
15/20 |
- |
2 |
1-27099976-T-G |
c.3855T>G |
p.Y1285* |
Nonsense |
15/20 |
- |
2 |
1-27099976-T-A |
c.3855T>A |
p.Y1285* |
Nonsense |
15/20 |
- |
1 |
1-27099974-TATGACAG-T |
c.3855_3861del |
p.Y1285* |
Frameshift |
15/20 |
- |
1 |
1-27099981-G-C |
c.3860G>C |
p.R1287T |
Missense |
15/20 |
- |
2 |
1-27099984-TGA-T |
c.3865_3866del |
p.R1289Dfs*8 |
SpliceDonorDeletion |
15/20 |
- |
1 |
1-27099988-G-T |
c.3866+1G>T |
- |
IntronicSNV |
- |
15/19 |
1 |
1-27099990-A-T |
c.3866+3A>T |
- |
IntronicSNV |
- |
15/19 |
1 |
1-27099995-T-A |
c.3866+8T>A |
- |
IntronicSNV |
- |
15/19 |
1 |
1-27100073-C-T |
c.3869C>T |
p.T1290M |
Missense |
16/20 |
- |
1 |
1-27100074-G-A |
c.3870G>A |
p.T1290= |
Synonymous |
16/20 |
- |
1 |
1-27100077-G-C |
c.3873G>C |
p.E1291D |
Missense |
16/20 |
- |
1 |
1-27100077-G-T |
c.3873G>T |
p.E1291D |
Missense |
16/20 |
- |
1 |
1-27100082-G-A |
c.3878G>A |
p.G1293E |
Missense |
16/20 |
- |
1 |
1-27100106-G-A |
c.3902G>A |
p.S1301N |
Missense |
16/20 |
- |
1 |
1-27100114-G-A |
c.3910G>A |
p.A1304T |
Missense |
16/20 |
- |
1 |
1-27100118-C-CA |
c.3915dup |
p.Q1306Tfs*17 |
Frameshift |
16/20 |
- |
1 |
1-27100125-CG-C |
c.3921del |
p.N1308Ifs*173 |
Frameshift |
16/20 |
- |
1 |
1-27100129-C-T |
c.3925C>T |
p.L1309F |
Missense |
16/20 |
- |
1 |
1-27100134-GCCTTC-G |
c.3932_3936del |
p.P1311Qfs*10 |
Frameshift |
16/20 |
- |
1 |
1-27100136-CT-C |
c.3934del |
p.S1312Pfs*169 |
Frameshift |
16/20 |
- |
1 |
1-27100139-C-G |
c.3935C>G |
p.S1312C |
Missense |
16/20 |
- |
1 |
1-27100142-A-G |
c.3938A>G |
p.N1313S |
Missense |
16/20 |
- |
2 |
1-27100145-C-T |
c.3941C>T |
p.P1314L |
Missense |
16/20 |
- |
1 |
1-27100150-T-G |
c.3946T>G |
p.S1316A |
Missense |
16/20 |
- |
1 |
1-27100150-TC-GA |
c.3946_3947inv |
p.S1316E |
Missense |
16/20 |
- |
1 |
1-27100151-C-A |
c.3947C>A |
p.S1316* |
Nonsense |
16/20 |
- |
1 |
1-27100154-G-T |
c.3950G>T |
p.G1317V |
Missense |
16/20 |
- |
1 |
1-27100161-T-A |
c.3957T>A |
p.Y1319* |
Nonsense |
16/20 |
- |
1 |
1-27100161-T-G |
c.3957T>G |
p.Y1319* |
Nonsense |
16/20 |
- |
1 |
1-27100162-T-G |
c.3958T>G |
p.S1320A |
Missense |
16/20 |
- |
1 |
1-27100162-TCT-GAG |
c.3958_3960delinsGAG |
p.S1320E |
Missense |
16/20 |
- |
1 |
1-27100171-C-T |
c.3967C>T |
p.R1323C |
Missense |
16/20 |
- |
2 |
1-27100171-C-A |
c.3967C>A |
p.R1323S |
Missense |
16/20 |
- |
1 |
1-27100175-A-C |
c.3971A>C |
p.Y1324S |
Missense |
16/20 |
- |
1 |
1-27100176-C-T |
c.3972C>T |
p.Y1324= |
Synonymous |
16/20 |
- |
1 |
1-27100180-CCG-TTT |
c.3976_3978delinsTTT |
p.P1326F |
Missense |
16/20 |
- |
1 |
1-27100175-A-AC |
c.3977dup |
p.Q1327Afs*11 |
Frameshift |
16/20 |
- |
1 |
1-27100181-C-T |
c.3977C>T |
p.P1326L |
Missense |
16/20 |
- |
3 |
1-27100175-AC-A |
c.3977del |
p.P1326Rfs*155 |
Frameshift |
16/20 |
- |
4 |
1-27100181-C-A |
c.3977C>A |
p.P1326Q |
Missense |
16/20 |
- |
1 |
1-27100182-G-A |
c.3978G>A |
p.P1326= |
Synonymous |
16/20 |
- |
2 |
1-27100182-G-T |
c.3978G>T |
p.P1326= |
Synonymous |
16/20 |
- |
2 |
1-27100181-C-CG |
c.3978dup |
p.Q1327Afs*11 |
Frameshift |
16/20 |
- |
1 |
1-27100180-CCG-C |
c.3978_3979del |
p.Q1327Afs*10 |
Frameshift |
16/20 |
- |
2 |
1-27100183-CA-GC |
c.3979_3980delinsGC |
p.Q1327A |
Missense |
16/20 |
- |
1 |
1-27100182-G-GC |
c.3979dup |
p.Q1327Pfs*11 |
Frameshift |
16/20 |
- |
1 |
1-27100183-C-T |
c.3979C>T |
p.Q1327* |
Nonsense |
16/20 |
- |
1 |
1-27100182-G-GCAA |
c.3980_3981insACA |
p.Q1334dup |
InFrameInsertion |
16/20 |
- |
1 |
1-27100182-G-GCAACAA |
c.3980_3981insACAACA |
p.Q1333_Q1334dup |
InFrameInsertion |
16/20 |
- |
1 |
1-27100186-C-T |
c.3982C>T |
p.Q1328* |
Nonsense |
16/20 |
- |
1 |
1-27100189-C-T |
c.3985C>T |
p.Q1329* |
Nonsense |
16/20 |
- |
1 |
1-27100191-G-T |
c.3987G>T |
p.Q1329H |
Missense |
16/20 |
- |
1 |
1-27100191-G-C |
c.3987G>C |
p.Q1329H |
Missense |
16/20 |
- |
1 |
1-27100192-C-T |
c.3988C>T |
p.Q1330* |
Nonsense |
16/20 |
- |
1 |
1-27100181-CGCAGCAGCAGCA-C |
c.3990_4001del |
p.Q1331_Q1334del |
InFrameDeletion |
16/20 |
- |
1 |
1-27100181-CGCAGCAGCA-C |
c.3993_4001del |
p.Q1332_Q1334del |
InFrameDeletion |
16/20 |
- |
1 |
1-27100198-C-T |
c.3994C>T |
p.Q1332* |
Nonsense |
16/20 |
- |
1 |
1-27100201-C-T |
c.3997C>T |
p.Q1333* |
Nonsense |
16/20 |
- |
1 |
1-27100200-GCAGCAA-G |
c.3998_4003del |
p.Q1333_Q1334del |
InFrameDeletion |
16/20 |
- |
1 |
1-27100181-CGCA-C |
c.3999_4001del |
p.Q1334del |
InFrameDeletion |
16/20 |
- |
8 |
1-27100204-C-T |
c.4000C>T |
p.Q1334* |
Nonsense |
16/20 |
- |
1 |
1-27100203-GCAA-G |
c.4001_4003del |
p.Q1334del |
InFrameDeletion |
16/20 |
- |
5 |
1-27100205-A-AG |
c.4001_4002insG |
p.R1335Tfs*3 |
Frameshift |
16/20 |
- |
1 |
1-27100207-C-T |
c.4003C>T |
p.R1335* |
Nonsense |
16/20 |
- |
12 |
1-27100299-ATT-A |
c.4011_4012del |
p.S1338Lfs*106 |
Frameshift |
17/20 |
- |
1 |
1-27100301-C-G |
c.4013C>G |
p.S1338C |
Missense |
17/20 |
- |
1 |
1-27100307-G-T |
c.4019G>T |
p.G1340V |
Missense |
17/20 |
- |
1 |
1-27100312-C-T |
c.4024C>T |
p.Q1342* |
Nonsense |
17/20 |
- |
1 |
1-27100318-TC-T |
c.4032del |
p.T1345Pfs*136 |
Frameshift |
17/20 |
- |
1 |
1-27100322-CC-TG |
c.4034_4035delinsTG |
p.T1345M |
Missense |
17/20 |
- |
1 |
1-27100343-G-GC |
c.4059dup |
p.F1354Lfs*91 |
Frameshift |
17/20 |
- |
1 |
1-27100347-C-T |
c.4059C>T |
p.P1353= |
Synonymous |
17/20 |
- |
1 |
1-27100347-C-G |
c.4059C>G |
p.P1353= |
Synonymous |
17/20 |
- |
1 |
1-27100347-C-A |
c.4059C>A |
p.P1353= |
Synonymous |
17/20 |
- |
1 |
1-27100360-C-T |
c.4072C>T |
p.Q1358* |
Nonsense |
17/20 |
- |
2 |
1-27100361-A-C |
c.4073A>C |
p.Q1358P |
Missense |
17/20 |
- |
1 |
1-27100363-GAC-G |
c.4075_4076del |
p.T1359Yfs*85 |
Frameshift |
17/20 |
- |
1 |
1-27100375-C-T |
c.4087C>T |
p.Q1363* |
Nonsense |
17/20 |
- |
1 |
1-27100379-A-T |
c.4091A>T |
p.Q1364L |
Missense |
17/20 |
- |
1 |
1-27100381-C-T |
c.4093C>T |
p.Q1365* |
Nonsense |
17/20 |
- |
2 |
1-27100830-G-A |
c.4112G>A |
p.R1371Q |
Missense |
18/20 |
- |
1 |
1-27100835-A-G |
c.4117A>G |
p.M1373V |
Missense |
18/20 |
- |
1 |
1-27100836-T-C |
c.4118T>C |
p.M1373T |
Missense |
18/20 |
- |
1 |
1-27100841-G-A |
c.4123G>A |
p.G1375S |
Missense |
18/20 |
- |
1 |
1-27100842-G-T |
c.4124G>T |
p.G1375V |
Missense |
18/20 |
- |
1 |
1-27100849-T-A |
c.4131T>A |
p.Y1377* |
Nonsense |
18/20 |
- |
1 |
1-27100849-T-G |
c.4131T>G |
p.Y1377* |
Nonsense |
18/20 |
- |
1 |
1-27100856-C-T |
c.4138C>T |
p.P1380S |
Missense |
18/20 |
- |
1 |
1-27100859-G-A |
c.4141G>A |
p.A1381T |
Missense |
18/20 |
- |
1 |
1-27100861-C-CT |
c.4143_4144insT |
p.K1382* |
Nonsense |
18/20 |
- |
1 |
1-27100862-A-T |
c.4144A>T |
p.K1382* |
Nonsense |
18/20 |
- |
1 |
1-27100871-G-A |
c.4153G>A |
p.E1385K |
Missense |
18/20 |
- |
1 |
1-27100874-G-T |
c.4156G>T |
p.G1386W |
Missense |
18/20 |
- |
1 |
1-27100888-C-T |
c.4170C>T |
p.S1390= |
Synonymous |
18/20 |
- |
1 |
1-27100896-A-C |
c.4178A>C |
p.Y1393S |
Missense |
18/20 |
- |
1 |
1-27100897-C-A |
c.4179C>A |
p.Y1393* |
Nonsense |
18/20 |
- |
1 |
1-27100897-C-G |
c.4179C>G |
p.Y1393* |
Nonsense |
18/20 |
- |
1 |
1-27100903-CTGGGCAGGGGCAG-C |
c.4185_4197del |
p.G1396Lfs*81 |
Frameshift |
18/20 |
- |
1 |
1-27100903-TGG-T |
c.4187_4188del |
p.G1396Afs*48 |
Frameshift |
18/20 |
- |
1 |
1-27100914-A-G |
c.4196A>G |
p.Q1399R |
Missense |
18/20 |
- |
1 |
1-27100919-C-T |
c.4201C>T |
p.Q1401* |
Nonsense |
18/20 |
- |
6 |
1-27100919-C-A |
c.4201C>A |
p.Q1401K |
Missense |
18/20 |
- |
1 |
1-27100925-C-T |
c.4207C>T |
p.Q1403* |
Nonsense |
18/20 |
- |
1 |
1-27100927-G-A |
c.4209G>A |
p.Q1403= |
Synonymous |
18/20 |
- |
1 |
1-27100928-C-T |
c.4210C>T |
p.Q1404* |
Nonsense |
18/20 |
- |
2 |
1-27100918-TCAG-T |
c.4210_4212del |
p.Q1404del |
InFrameDeletion |
18/20 |
- |
1 |
1-27100938-C-T |
c.4220C>T |
p.P1407L |
Missense |
18/20 |
- |
1 |
1-27100933-GC-G |
c.4220del |
p.P1407Qfs*74 |
Frameshift |
18/20 |
- |
2 |
1-27100941-C-T |
c.4223C>T |
p.A1408V |
Missense |
18/20 |
- |
1 |
1-27100943-C-T |
c.4225C>T |
p.Q1409* |
Nonsense |
18/20 |
- |
4 |
1-27100944-A-C |
c.4226A>C |
p.Q1409P |
Missense |
18/20 |
- |
1 |
1-27100946-C-T |
c.4228C>T |
p.P1410S |
Missense |
18/20 |
- |
1 |
1-27100946-C-G |
c.4228C>G |
p.P1410A |
Missense |
18/20 |
- |
1 |
1-27100945-GCCCCAGCCTGC-G |
c.4229_4239del |
p.P1410Qfs*31 |
Frameshift |
18/20 |
- |
1 |
1-27100949-C-T |
c.4231C>T |
p.Q1411* |
Nonsense |
18/20 |
- |
1 |
1-27100961-C-T |
c.4243C>T |
p.Q1415* |
Nonsense |
18/20 |
- |
1 |
1-27100963-G-T |
c.4245G>T |
p.Q1415H |
Missense |
18/20 |
- |
1 |
1-27100963-G-C |
c.4245G>C |
p.Q1415H |
Missense |
18/20 |
- |
1 |
1-27100970-G-A |
c.4252G>A |
p.A1418T |
Missense |
18/20 |
- |
2 |
1-27100976-C-T |
c.4258C>T |
p.Q1420* |
Nonsense |
18/20 |
- |
1 |
1-27100988-C-T |
c.4270C>T |
p.Q1424* |
Nonsense |
18/20 |
- |
6 |
1-27100990-AGCAAGATGTATACAACCAGTATGGCAATGCCTATCCTGCC-A |
c.4272_4311del |
p.Q1425Lfs*43 |
Frameshift |
18/20 |
- |
1 |
1-27100994-G-A |
c.4276G>A |
p.D1426N |
Missense |
18/20 |
- |
1 |
1-27100999-TATACAACCAGTATGGCAATG-T |
c.4281_4300del |
p.Y1428Lfs*10 |
Frameshift |
18/20 |
- |
1 |
1-27101006-C-T |
c.4288C>T |
p.Q1430* |
Nonsense |
18/20 |
- |
2 |
1-27101011-T-A |
c.4293T>A |
p.Y1431* |
Nonsense |
18/20 |
- |
1 |
1-27101011-T-G |
c.4293T>G |
p.Y1431* |
Nonsense |
18/20 |
- |
1 |
1-27101030-A-C |
c.4312A>C |
p.T1438P |
Missense |
18/20 |
- |
1 |
1-27101028-CCACTGCCACAGCTG-C |
c.4312_4325del |
p.T1438Yfs*2 |
Frameshift |
18/20 |
- |
1 |
1-27101037-AC-A |
c.4319del |
p.T1440Kfs*41 |
Frameshift |
18/20 |
- |
1 |
1-27101043-C-G |
c.4325C>G |
p.A1442G |
Missense |
18/20 |
- |
1 |
1-27101048-G-T |
c.4330G>T |
p.E1444* |
Nonsense |
18/20 |
- |
4 |
1-27101054-C-T |
c.4336C>T |
p.R1446* |
Nonsense |
18/20 |
- |
8 |
1-27101054-CGA-TGT |
c.4336_4338delinsTGT |
p.R1446C |
Missense |
18/20 |
- |
1 |
1-27101055-G-A |
c.4337G>A |
p.R1446Q |
Missense |
18/20 |
- |
1 |
1-27101067-GC-G |
c.4354del |
p.Q1452Rfs*29 |
Frameshift |
18/20 |
- |
3 |
1-27101078-C-T |
c.4360C>T |
p.Q1454* |
Nonsense |
18/20 |
- |
1 |
1-27101088-T-C |
c.4370T>C |
p.F1457S |
Missense |
18/20 |
- |
1 |
1-27101090-C-T |
c.4372C>T |
p.Q1458* |
Nonsense |
18/20 |
- |
1 |
1-27101091-CAGTTT-C |
c.4373_4377del |
p.Q1458Rfs*31 |
Frameshift |
18/20 |
- |
1 |
1-27101099-C-T |
c.4381C>T |
p.R1461* |
Nonsense |
18/20 |
- |
6 |
1-27101102-G-A |
c.4384G>A |
p.D1462N |
Missense |
18/20 |
- |
1 |
1-27101105-C-T |
c.4387C>T |
p.R1463C |
Missense |
18/20 |
- |
1 |
1-27101106-G-A |
c.4388G>A |
p.R1463H |
Missense |
18/20 |
- |
2 |
1-27101108-G-GT |
c.4391dup |
p.S1465Lfs*26 |
Frameshift |
18/20 |
- |
1 |
1-27101109-T-A |
c.4391T>A |
p.V1464D |
Missense |
18/20 |
- |
1 |
1-27101121-C-T |
c.4403C>T |
p.P1468L |
Missense |
18/20 |
- |
1 |
1-27101116-AC-A |
c.4403del |
p.P1468Lfs*13 |
Frameshift |
18/20 |
- |
1 |
1-27101127-ACCAAT-A |
c.4409_4413del |
p.T1470Sfs*19 |
Frameshift |
18/20 |
- |
1 |
1-27101130-A-T |
c.4412A>T |
p.N1471I |
Missense |
18/20 |
- |
1 |
1-27101135-C-T |
c.4417C>T |
p.Q1473* |
Nonsense |
18/20 |
- |
2 |
1-27101138-C-T |
c.4420C>T |
p.Q1474* |
Nonsense |
18/20 |
- |
1 |
1-27101145-AT-A |
c.4427del |
p.M1476Sfs*5 |
Frameshift |
18/20 |
- |
1 |
1-27101153-C-T |
c.4435C>T |
p.Q1479* |
Nonsense |
18/20 |
- |
1 |
1-27101154-CAAA-C |
c.4436_4438del |
p.Q1479_M1480delinsL |
MultiAAMissense |
18/20 |
- |
1 |
1-27101158-G-C |
c.4440G>C |
p.M1480I |
Missense |
18/20 |
- |
1 |
1-27101161-G-C |
c.4443G>C |
p.M1481I |
Missense |
18/20 |
- |
1 |
1-27101161-G-A |
c.4443G>A |
p.M1481I |
Missense |
18/20 |
- |
1 |
1-27101161-G-T |
c.4443G>T |
p.M1481I |
Missense |
18/20 |
- |
1 |
1-27101169-CCATA-C |
c.4454_4457del |
p.I1485Rfs*19 |
Frameshift |
18/20 |
- |
1 |
1-27101174-C-T |
c.4456C>T |
p.Q1486* |
Nonsense |
18/20 |
- |
3 |
1-27101178-C-T |
c.4460C>T |
p.A1487V |
Missense |
18/20 |
- |
1 |
1-27101180-T-C |
c.4462T>C |
p.S1488P |
Missense |
18/20 |
- |
1 |
1-27101186-G-T |
c.4468G>T |
p.E1490* |
Nonsense |
18/20 |
- |
2 |
1-27101194-T-G |
c.4476T>G |
p.A1492= |
Synonymous |
18/20 |
- |
1 |
1-27101195-C-T |
c.4477C>T |
p.Q1493* |
Nonsense |
18/20 |
- |
4 |
1-27101198-C-T |
c.4480C>T |
p.Q1494* |
Nonsense |
18/20 |
- |
1 |
1-27101211-G-A |
c.4493G>A |
p.W1498* |
Nonsense |
18/20 |
- |
4 |
1-27101212-G-A |
c.4494G>A |
p.W1498* |
Nonsense |
18/20 |
- |
2 |
1-27101214-A-AG |
c.4500dup |
p.R1501Afs*2 |
Frameshift |
18/20 |
- |
2 |
1-27101219-C-T |
c.4501C>T |
p.R1501C |
Missense |
18/20 |
- |
2 |
1-27101223-A-AT |
c.4506dup |
p.D1503* |
Nonsense |
18/20 |
- |
1 |
1-27101233-C-CT |
c.4516dup |
p.Y1506Lfs*2 |
Frameshift |
18/20 |
- |
1 |
1-27101242-T-A |
c.4524T>A |
p.Y1508* |
Nonsense |
18/20 |
- |
1 |
1-27101254-G-T |
c.4536G>T |
p.Q1512H |
Missense |
18/20 |
- |
1 |
1-27101258-A-C |
c.4540A>C |
p.T1514P |
Missense |
18/20 |
- |
1 |
1-27101256-GCACGGGCTCTGCCCCC-G |
c.4541_4556del |
p.T1514Rfs*8 |
Frameshift |
18/20 |
- |
1 |
1-27101259-C-T |
c.4541C>T |
p.T1514M |
Missense |
18/20 |
- |
2 |
1-27101259-AC-A |
c.4541del |
p.T1514Rfs*13 |
Frameshift |
18/20 |
- |
1 |
1-27101261-G-T |
c.4543G>T |
p.G1515C |
Missense |
18/20 |
- |
1 |
1-27101262-GGCTCTGCCCC-G |
c.4544_4553del |
p.G1515Afs*9 |
Frameshift |
18/20 |
- |
1 |
1-27101268-C-T |
c.4550C>T |
p.A1517V |
Missense |
18/20 |
- |
1 |
1-27101267-G-GC |
c.4555dup |
p.Q1519Pfs*13 |
Frameshift |
18/20 |
- |
4 |
1-27101267-GC-G |
c.4555del |
p.Q1519Rfs*8 |
Frameshift |
18/20 |
- |
2 |
1-27101273-C-T |
c.4555C>T |
p.Q1519* |
Nonsense |
18/20 |
- |
1 |
1-27101274-CA-C |
c.4556del |
p.Q1519Rfs*8 |
Frameshift |
18/20 |
- |
1 |
1-27101275-G-T |
c.4557G>T |
p.Q1519H |
Missense |
18/20 |
- |
1 |
1-27101277-GC-G |
c.4563del |
p.A1522Pfs*5 |
Frameshift |
18/20 |
- |
1 |
1-27101282-G-A |
c.4564G>A |
p.A1522T |
Missense |
18/20 |
- |
5 |
1-27101284-CTATCATGGCG-C |
c.4568_4577del |
p.Y1523* |
Frameshift |
18/20 |
- |
1 |
1-27101287-T-A |
c.4569T>A |
p.Y1523* |
Nonsense |
18/20 |
- |
1 |
1-27101287-T-G |
c.4569T>G |
p.Y1523* |
Nonsense |
18/20 |
- |
1 |
1-27101289-A-G |
c.4571A>G |
p.H1524R |
Missense |
18/20 |
- |
1 |
1-27101294-G-A |
c.4576G>A |
p.V1526M |
Missense |
18/20 |
- |
2 |
1-27101300-C-T |
c.4582C>T |
p.R1528* |
Nonsense |
18/20 |
- |
3 |
1-27101306-G-A |
c.4588G>A |
p.D1530N |
Missense |
18/20 |
- |
1 |
1-27101309-G-A |
c.4591G>A |
p.E1531K |
Missense |
18/20 |
- |
1 |
1-27101309-TG-T |
c.4591del |
p.E1531Kfs*34 |
Frameshift |
18/20 |
- |
1 |
1-27101317-GCA-G |
c.4604_4605del |
p.T1535Rfs*36 |
Frameshift |
18/20 |
- |
1 |
1-27101322-C-G |
c.4604C>G |
p.T1535R |
Missense |
18/20 |
- |
1 |
1-27101324-G-T |
c.4606G>T |
p.D1536Y |
Missense |
18/20 |
- |
1 |
1-27101338-C-A |
c.4620C>A |
p.N1540K |
Missense |
18/20 |
- |
2 |
1-27101342-G-A |
c.4624G>A |
p.E1542K |
Missense |
18/20 |
- |
2 |
1-27101342-G-T |
c.4624G>T |
p.E1542* |
Nonsense |
18/20 |
- |
1 |
1-27101343-GAAGGC-G |
c.4625_4629del |
p.E1542Vfs*28 |
Frameshift |
18/20 |
- |
1 |
1-27101345-AGGCTCGTGGC-A |
c.4627_4636del |
p.G1543Lfs*19 |
Frameshift |
18/20 |
- |
1 |
1-27101348-T-G |
c.4630T>G |
p.S1544A |
Missense |
18/20 |
- |
1 |
1-27101353-G-A |
c.4635G>A |
p.W1545* |
Nonsense |
18/20 |
- |
1 |
1-27101358-C-T |
c.4640C>T |
p.S1547F |
Missense |
18/20 |
- |
1 |
1-27101369-C-T |
c.4651C>T |
p.R1551C |
Missense |
18/20 |
- |
1 |
1-27101378-C-T |
c.4660C>T |
p.P1554S |
Missense |
18/20 |
- |
1 |
1-27101386-TC-T |
c.4671del |
p.S1558Lfs*7 |
Frameshift |
18/20 |
- |
1 |
1-27101386-TCCCTCTG-T |
c.4672_4678del |
p.S1558Lfs*5 |
Frameshift |
18/20 |
- |
1 |
1-27101391-C-T |
c.4673C>T |
p.S1558F |
Missense |
18/20 |
- |
1 |
1-27101396-C-G |
c.4678C>G |
p.P1560A |
Missense |
18/20 |
- |
1 |
1-27101398-T-C |
c.4680T>C |
p.P1560= |
Synonymous |
18/20 |
- |
1 |
1-27101403-C-T |
c.4685C>T |
p.P1562L |
Missense |
18/20 |
- |
1 |
1-27101405-C-T |
c.4687C>T |
p.P1563S |
Missense |
18/20 |
- |
3 |
1-27101401-GC-G |
c.4689del |
p.M1564* |
Frameshift |
18/20 |
- |
2 |
1-27101408-AT-TA |
c.4690_4691delinsTA |
p.M1564* |
Nonsense |
18/20 |
- |
1 |
1-27101413-A-AT |
c.4695_4696insT |
p.R1566* |
Nonsense |
18/20 |
- |
1 |
1-27101415-G-A |
c.4697G>A |
p.R1566K |
Missense |
18/20 |
- |
2 |
1-27101415-AGG-A |
c.4697_4698del |
p.R1566Tfs*5 |
Frameshift |
18/20 |
- |
1 |
1-27101417-C-G |
c.4699C>G |
p.P1567A |
Missense |
18/20 |
- |
1 |
1-27101417-C-T |
c.4699C>T |
p.P1567S |
Missense |
18/20 |
- |
1 |
1-27101420-C-T |
c.4702C>T |
p.P1568S |
Missense |
18/20 |
- |
2 |
1-27101424-C-T |
c.4706C>T |
p.P1569L |
Missense |
18/20 |
- |
1 |
1-27101427-C-T |
c.4709C>T |
p.S1570F |
Missense |
18/20 |
- |
1 |
1-27101427-C-G |
c.4709C>G |
p.S1570C |
Missense |
18/20 |
- |
1 |
1-27101427-C-CT |
c.4710dup |
p.N1571* |
Nonsense |
18/20 |
- |
1 |
1-27101431-ACT-A |
c.4713_4714del |
p.N1571Kfs*31 |
Frameshift |
18/20 |
- |
1 |
1-27101434-C-A |
c.4716C>A |
p.Y1572* |
Nonsense |
18/20 |
- |
1 |
1-27101434-C-G |
c.4716C>G |
p.Y1572* |
Nonsense |
18/20 |
- |
2 |
1-27101435-C-T |
c.4717C>T |
p.Q1573* |
Nonsense |
18/20 |
- |
3 |
1-27101439-C-T |
c.4721C>T |
p.P1574L |
Missense |
18/20 |
- |
1 |
1-27101442-C-A |
c.4724C>A |
p.P1575Q |
Missense |
18/20 |
- |
2 |
1-27101445-C-T |
c.4727C>T |
p.P1576L |
Missense |
18/20 |
- |
2 |
1-27101453-C-T |
c.4735C>T |
p.Q1579* |
Nonsense |
18/20 |
- |
1 |
1-27101454-A-C |
c.4736A>C |
p.Q1579P |
Missense |
18/20 |
- |
2 |
1-27101457-A-AC |
c.4739_4740insC |
p.H1581Sfs*22 |
Frameshift |
18/20 |
- |
1 |
1-27101459-C-T |
c.4741C>T |
p.H1581Y |
Missense |
18/20 |
- |
1 |
1-27101459-C-G |
c.4741C>G |
p.H1581D |
Missense |
18/20 |
- |
1 |
1-27101458-TCA-T |
c.4743_4744del |
p.I1582Sfs*20 |
Frameshift |
18/20 |
- |
1 |
1-27101463-T-G |
c.4745T>G |
p.I1582S |
Missense |
18/20 |
- |
1 |
1-27101466-C-T |
c.4748C>T |
p.P1583L |
Missense |
18/20 |
- |
1 |
1-27101468-C-T |
c.4750C>T |
p.Q1584* |
Nonsense |
18/20 |
- |
3 |
1-27101468-TCA-T |
c.4750_4751del |
p.Q1584Gfs*18 |
Frameshift |
18/20 |
- |
1 |
1-27101470-G-T |
c.4752G>T |
p.Q1584H |
Missense |
18/20 |
- |
1 |
1-27101495-C-T |
c.4777C>T |
p.R1593W |
Missense |
18/20 |
- |
4 |
1-27101495-C-A |
c.4777C>A |
p.R1593= |
Synonymous |
18/20 |
- |
1 |
1-27101497-G-A |
c.4779G>A |
p.R1593= |
Synonymous |
18/20 |
- |
1 |
1-27101497-G-C |
c.4779G>C |
p.R1593= |
Synonymous |
18/20 |
- |
1 |
1-27101497-G-T |
c.4779G>T |
p.R1593= |
Synonymous |
18/20 |
- |
1 |
1-27101496-G-A |
c.4778G>A |
p.R1593Q |
Missense |
18/20 |
- |
1 |
1-27101497-G-GC |
c.4781dup |
p.M1595Nfs*8 |
Frameshift |
18/20 |
- |
1 |
1-27101501-A-G |
c.4783A>G |
p.M1595V |
Missense |
18/20 |
- |
1 |
1-27101504-G-C |
c.4786G>C |
p.E1596Q |
Missense |
18/20 |
- |
1 |
1-27101525-CAAGTCTCCATTCCT-C |
c.4807_4820del |
p.K1603Afs*40 |
Frameshift |
18/20 |
- |
1 |
1-27101541-A-G |
c.4823A>G |
p.H1608R |
Missense |
18/20 |
- |
1 |
1-27101552-A-G |
c.4834A>G |
p.K1612E |
Missense |
18/20 |
- |
1 |
1-27101558-C-T |
c.4840C>T |
p.Q1614* |
Nonsense |
18/20 |
- |
4 |
1-27101565-C-T |
c.4847C>T |
p.A1616V |
Missense |
18/20 |
- |
1 |
1-27101570-C-T |
c.4852C>T |
p.P1618S |
Missense |
18/20 |
- |
1 |
1-27101583-C-G |
c.4865C>G |
p.A1622G |
Missense |
18/20 |
- |
1 |
1-27101583-C-T |
c.4865C>T |
p.A1622V |
Missense |
18/20 |
- |
1 |
1-27101591-A-AT |
c.4874dup |
p.A1626Sfs*22 |
Frameshift |
18/20 |
- |
1 |
1-27101597-CCTGCCCCTGTGCAG-C |
c.4881_4894del |
p.A1628Pfs*15 |
Frameshift |
18/20 |
- |
1 |
1-27101600-G-A |
c.4882G>A |
p.A1628T |
Missense |
18/20 |
- |
1 |
1-27101600-GC-G |
c.4886del |
p.P1629Lfs*6 |
Frameshift |
18/20 |
- |
1 |
1-27101611-G-GC |
c.4899dup |
p.M1634Hfs*14 |
Frameshift |
18/20 |
- |
2 |
1-27101620-G-C |
c.4902G>C |
p.M1634I |
Missense |
18/20 |
- |
1 |
1-27101620-G-A |
c.4902G>A |
p.M1634I |
Missense |
18/20 |
- |
1 |
1-27101620-G-T |
c.4902G>T |
p.M1634I |
Missense |
18/20 |
- |
1 |
1-27101624-C-T |
c.4906C>T |
p.R1636W |
Missense |
18/20 |
- |
2 |
1-27101629-G-A |
c.4911G>A |
p.R1637= |
Synonymous |
18/20 |
- |
1 |
1-27101642-C-T |
c.4924C>T |
p.P1642S |
Missense |
18/20 |
- |
1 |
1-27101644-A-ATGGC |
c.4926_4927insTGGC |
p.P1643Wfs*6 |
Frameshift |
18/20 |
- |
1 |
1-27101651-CT-C |
c.4933del |
p.S1645Lfs*9 |
Frameshift |
18/20 |
- |
1 |
1-27101656-T-A |
c.4938T>A |
p.V1646= |
Synonymous |
18/20 |
- |
1 |
1-27101656-T-C |
c.4938T>C |
p.V1646= |
Synonymous |
18/20 |
- |
1 |
1-27101656-T-G |
c.4938T>G |
p.V1646= |
Synonymous |
18/20 |
- |
1 |
1-27101657-G-T |
c.4939G>T |
p.E1647* |
Nonsense |
18/20 |
- |
1 |
1-27101661-C-T |
c.4943C>T |
p.A1648V |
Missense |
18/20 |
- |
1 |
1-27101665-A-G |
c.4947A>G |
p.T1649= |
Synonymous |
18/20 |
- |
1 |
1-27101666-C-T |
c.4948C>T |
p.Q1650* |
Nonsense |
18/20 |
- |
2 |
1-27101668-GC-G |
c.4952del |
p.P1651Lfs*3 |
Frameshift |
18/20 |
- |
1 |
1-27101670-C-T |
c.4952C>T |
p.P1651L |
Missense |
18/20 |
- |
2 |
1-27101672-G-A |
c.4954G>A |
p.V1652M |
Missense |
18/20 |
- |
1 |
1-27101673-T-TG |
c.4956dup |
p.L1653Vfs*45 |
Frameshift |
18/20 |
- |
1 |
1-27101685-G-A |
c.4967G>A |
p.R1656K |
Missense |
18/20 |
- |
1 |
1-27101686-G-T |
c.4968G>T |
p.R1656S |
Missense |
18/20 |
- |
1 |
1-27101690-C-T |
c.4972C>T |
p.R1658W |
Missense |
18/20 |
- |
2 |
1-27101699-A-G |
c.4981A>G |
p.M1661V |
Missense |
18/20 |
- |
1 |
1-27101708-A-T |
c.4990A>T |
p.I1664F |
Missense |
18/20 |
- |
1 |
1-27101709-T-G |
c.4991T>G |
p.I1664S |
Missense |
18/20 |
- |
1 |
1-27101710-T-TC |
c.4992_4993insC |
p.G1665Rfs*33 |
SpliceDonorInsertion |
18/20 |
- |
1 |
1-27101710-T-TA |
c.4992_4993insA |
p.G1665Rfs*33 |
SpliceDonorInsertion |
18/20 |
- |
1 |
1-27101708-A-AT |
c.4992dup |
p.G1665Wfs*33 |
SpliceDonorInsertion |
18/20 |
- |
1 |
1-27101708-ATTGGTAAGGAGATCTTCCTCATTCGGTTGCCTAATCTGCCCCT-A |
c.4993_4993+42del |
- |
SpliceDonorDeletion |
18/20 |
18/19 |
1 |
1-27101711-G-T |
c.4993G>T |
p.G1665* |
Nonsense |
18/20 |
- |
2 |
1-27101712-G-T |
c.4993+1G>T |
- |
IntronicSNV |
- |
18/19 |
2 |
1-27101712-G-A |
c.4993+1G>A |
- |
IntronicSNV |
- |
18/19 |
1 |
1-27102071-C-T |
c.4997C>T |
p.T1666I |
Missense |
19/20 |
- |
1 |
1-27102074-C-T |
c.5000C>T |
p.P1667L |
Missense |
19/20 |
- |
1 |
1-27102076-G-T |
c.5002G>T |
p.E1668* |
Nonsense |
19/20 |
- |
2 |
1-27102078-G-C |
c.5004G>C |
p.E1668D |
Missense |
19/20 |
- |
1 |
1-27102078-G-T |
c.5004G>T |
p.E1668D |
Missense |
19/20 |
- |
1 |
1-27102083-G-A |
c.5009G>A |
p.W1670* |
Nonsense |
19/20 |
- |
3 |
1-27102084-G-A |
c.5010G>A |
p.W1670* |
Nonsense |
19/20 |
- |
2 |
1-27102085-C-T |
c.5011C>T |
p.R1671W |
Missense |
19/20 |
- |
1 |
1-27102085-CG-C |
c.5014del |
p.V1672* |
Frameshift |
19/20 |
- |
2 |
1-27102093-G-C |
c.5019G>C |
p.M1673I |
Missense |
19/20 |
- |
1 |
1-27102093-G-A |
c.5019G>A |
p.M1673I |
Missense |
19/20 |
- |
1 |
1-27102093-G-T |
c.5019G>T |
p.M1673I |
Missense |
19/20 |
- |
1 |
1-27102093-TG-T |
c.5019del |
p.M1673Ifs*16 |
Frameshift |
19/20 |
- |
1 |
1-27102103-A-T |
c.5029A>T |
p.K1677* |
Nonsense |
19/20 |
- |
2 |
1-27102106-TC-CT |
c.5032_5033delinsCT |
p.S1678L |
Missense |
19/20 |
- |
1 |
1-27102120-A-AT |
c.5046_5047insT |
p.E1683* |
Nonsense |
19/20 |
- |
2 |
1-27102121-G-A |
c.5047G>A |
p.E1683K |
Missense |
19/20 |
- |
1 |
1-27102121-G-T |
c.5047G>T |
p.E1683* |
Nonsense |
19/20 |
- |
1 |
1-27102131-G-A |
c.5057G>A |
p.W1686* |
Nonsense |
19/20 |
- |
1 |
1-27102132-G-A |
c.5058G>A |
p.W1686* |
Nonsense |
19/20 |
- |
1 |
1-27102152-TCCTG-T |
c.5080_5083del |
p.L1694Cfs*8 |
Frameshift |
19/20 |
- |
1 |
1-27102163-G-A |
c.5089G>A |
p.D1697N |
Missense |
19/20 |
- |
1 |
1-27102164-A-G |
c.5090A>G |
p.D1697G |
Missense |
19/20 |
- |
1 |
1-27102175-A-C |
c.5101A>C |
p.I1701L |
Missense |
19/20 |
- |
1 |
1-27102180-G-A |
c.5106G>A |
p.M1702I |
Missense |
19/20 |
- |
2 |
1-27102188-A-G |
c.5114A>G |
p.N1705S |
Missense |
19/20 |
- |
3 |
1-27105509-T-C |
c.5125-5T>C |
- |
IntronicSNV |
- |
19/19 |
1 |
1-27105511-TAGCTCCC-T |
c.5125_5131del |
p.L1709Gfs*3 |
SpliceAcceptorDeletion |
20/20 |
- |
1 |
1-27105517-C-T |
c.5128C>T |
p.P1710S |
Missense |
20/20 |
- |
1 |
1-27105518-C-T |
c.5129C>T |
p.P1710L |
Missense |
20/20 |
- |
2 |
1-27105518-CCAGGG-C |
c.5129_5133del |
p.P1710Lfs*15 |
Frameshift |
20/20 |
- |
1 |
1-27105521-G-C |
c.5132G>C |
p.G1711A |
Missense |
20/20 |
- |
1 |
1-27105522-G-GT |
c.5135dup |
p.L1712Ffs*15 |
Frameshift |
20/20 |
- |
1 |
1-27105527-T-C |
c.5138T>C |
p.L1713P |
Missense |
20/20 |
- |
1 |
1-27105526-CTAGAGCTCCTTGTAGAATAT-C |
c.5139_5158del |
p.E1714Pfs*6 |
Frameshift |
20/20 |
- |
1 |
1-27105527-TAGAGCTCCTTGTAGA-T |
c.5140_5154del |
p.E1714_E1718del |
InFrameDeletion |
20/20 |
- |
1 |
1-27105531-G-T |
c.5142G>T |
p.E1714D |
Missense |
20/20 |
- |
1 |
1-27105541-G-T |
c.5152G>T |
p.E1718* |
Nonsense |
20/20 |
- |
1 |
1-27105546-T-A |
c.5157T>A |
p.Y1719* |
Nonsense |
20/20 |
- |
1 |
1-27105546-T-G |
c.5157T>G |
p.Y1719* |
Nonsense |
20/20 |
- |
1 |
1-27105548-TC-AA |
c.5159_5160delinsAA |
p.F1720* |
Missense |
20/20 |
- |
1 |
1-27105550-C-T |
c.5161C>T |
p.R1721* |
Nonsense |
20/20 |
- |
8 |
1-27105551-G-C |
c.5162G>C |
p.R1721P |
Missense |
20/20 |
- |
2 |
1-27105551-G-A |
c.5162G>A |
p.R1721Q |
Missense |
20/20 |
- |
1 |
1-27105553-C-T |
c.5164C>T |
p.R1722* |
Nonsense |
20/20 |
- |
11 |
1-27105553-C-A |
c.5164C>A |
p.R1722= |
Synonymous |
20/20 |
- |
1 |
1-27105555-A-C |
c.5166A>C |
p.R1722= |
Synonymous |
20/20 |
- |
1 |
1-27105555-A-G |
c.5166A>G |
p.R1722= |
Synonymous |
20/20 |
- |
1 |
1-27105555-A-T |
c.5166A>T |
p.R1722= |
Synonymous |
20/20 |
- |
1 |
1-27105554-G-A |
c.5165G>A |
p.R1722Q |
Missense |
20/20 |
- |
1 |
1-27105560-T-G |
c.5171T>G |
p.L1724R |
Missense |
20/20 |
- |
1 |
1-27105565-G-C |
c.5176G>C |
p.E1726Q |
Missense |
20/20 |
- |
2 |
1-27105565-G-T |
c.5176G>T |
p.E1726* |
Nonsense |
20/20 |
- |
1 |
1-27105572-T-C |
c.5183T>C |
p.F1728S |
Missense |
20/20 |
- |
1 |
1-27105575-G-A |
c.5186G>A |
p.G1729D |
Missense |
20/20 |
- |
1 |
1-27105586-G-T |
c.5197G>T |
p.E1733* |
Nonsense |
20/20 |
- |
1 |
1-27105591-T-G |
c.5202T>G |
p.Y1734* |
Nonsense |
20/20 |
- |
1 |
1-27105591-T-A |
c.5202T>A |
p.Y1734* |
Nonsense |
20/20 |
- |
1 |
1-27105592-G-A |
c.5203G>A |
p.E1735K |
Missense |
20/20 |
- |
1 |
1-27105610-CAGAGA-C |
c.5223_5227del |
p.Q1741Hfs*13 |
Frameshift |
20/20 |
- |
1 |
1-27105617-C-T |
c.5228C>T |
p.T1743M |
Missense |
20/20 |
- |
1 |
1-27105623-TG-T |
c.5236del |
p.D1746Ifs*24 |
Frameshift |
20/20 |
- |
1 |
1-27105628-C-T |
c.5239C>T |
p.P1747S |
Missense |
20/20 |
- |
1 |
1-27105635-G-A |
c.5246G>A |
p.R1749K |
Missense |
20/20 |
- |
1 |
1-27105653-G-C |
c.5264G>C |
p.S1755T |
Missense |
20/20 |
- |
1 |
1-27105658-G-T |
c.5269G>T |
p.A1757S |
Missense |
20/20 |
- |
1 |
1-27105659-C-T |
c.5270C>T |
p.A1757V |
Missense |
20/20 |
- |
1 |
1-27105665-T-TG |
c.5278dup |
p.E1760Gfs*13 |
Frameshift |
20/20 |
- |
1 |
1-27105670-G-T |
c.5281G>T |
p.G1761C |
Missense |
20/20 |
- |
1 |
1-27105675-G-GT |
c.5286_5287insT |
p.E1763* |
Nonsense |
20/20 |
- |
1 |
1-27105676-G-T |
c.5287G>T |
p.E1763* |
Nonsense |
20/20 |
- |
1 |
1-27105679-G-T |
c.5290G>T |
p.E1764* |
Nonsense |
20/20 |
- |
1 |
1-27105682-AG-A |
c.5293del |
p.E1765Kfs*5 |
Frameshift |
20/20 |
- |
1 |
1-27105684-A-C |
c.5295A>C |
p.E1765D |
Missense |
20/20 |
- |
1 |
1-27105675-GGAAGAA-G |
c.5296_5301del |
p.E1766_E1767del |
InFrameDeletion |
20/20 |
- |
1 |
1-27105675-GGAA-G |
c.5299_5301del |
p.E1767del |
InFrameDeletion |
20/20 |
- |
2 |
1-27105688-G-T |
c.5299G>T |
p.E1767* |
Nonsense |
20/20 |
- |
1 |
1-27105688-G-C |
c.5299G>C |
p.E1767Q |
Missense |
20/20 |
- |
1 |
1-27105694-TCTAGGTCCTAAAC-T |
c.5305_5317del |
p.L1769* |
Frameshift |
20/20 |
- |
1 |
1-27105700-C-T |
c.5311C>T |
p.P1771S |
Missense |
20/20 |
- |
1 |
1-27105703-A-G |
c.5314A>G |
p.K1772E |
Missense |
20/20 |
- |
1 |
1-27105715-G-T |
c.5326G>T |
p.E1776* |
Nonsense |
20/20 |
- |
1 |
1-27105715-G-C |
c.5326G>C |
p.E1776Q |
Missense |
20/20 |
- |
1 |
1-27105707-TAGAAGAGGAAGA-T |
c.5330_5341del |
p.E1777_E1780del |
InFrameDeletion |
20/20 |
- |
2 |
1-27105714-GGAA-G |
c.5334_5336del |
p.E1780del |
InFrameDeletion |
20/20 |
- |
2 |
1-27105724-G-A |
c.5335G>A |
p.E1779K |
Missense |
20/20 |
- |
1 |
1-27105724-G-T |
c.5335G>T |
p.E1779* |
Nonsense |
20/20 |
- |
2 |
1-27105725-A-G |
c.5336A>G |
p.E1779G |
Missense |
20/20 |
- |
3 |
1-27105727-G-T |
c.5338G>T |
p.E1780* |
Nonsense |
20/20 |
- |
1 |
1-27105730-G-A |
c.5341G>A |
p.V1781I |
Missense |
20/20 |
- |
1 |
1-27105731-T-TATAC |
c.5343_5344insTACA |
p.V1782Yfs*3 |
Frameshift |
20/20 |
- |
1 |
1-27105736-G-A |
c.5347G>A |
p.E1783K |
Missense |
20/20 |
- |
1 |
1-27105736-TG-T |
c.5347del |
p.E1783Kfs*6 |
Frameshift |
20/20 |
- |
1 |
1-27105738-AAATGATGAGGAGAT-A |
c.5351_5364del |
p.N1784Sfs*13 |
Frameshift |
20/20 |
- |
1 |
1-27105745-G-C |
c.5356G>C |
p.E1786Q |
Missense |
20/20 |
- |
1 |
1-27105748-G-C |
c.5359G>C |
p.E1787Q |
Missense |
20/20 |
- |
1 |
1-27105748-G-T |
c.5359G>T |
p.E1787* |
Nonsense |
20/20 |
- |
1 |
1-27105751-AT-TA |
c.5362_5363delinsTA |
p.I1788* |
Nonsense |
20/20 |
- |
1 |
1-27105755-GCCTT-G |
c.5366_5369del |
p.A1789Vfs*16 |
Frameshift |
20/20 |
- |
1 |
1-27105756-CT-C |
c.5371del |
p.S1791Qfs*15 |
Frameshift |
20/20 |
- |
1 |
1-27105761-C-T |
c.5372C>T |
p.S1791L |
Missense |
20/20 |
- |
1 |
1-27105774-G-C |
c.5385G>C |
p.K1795N |
Missense |
20/20 |
- |
1 |
1-27105774-G-T |
c.5385G>T |
p.K1795N |
Missense |
20/20 |
- |
1 |
1-27105787-A-C |
c.5398A>C |
p.N1800H |
Missense |
20/20 |
- |
1 |
1-27105789-T-C |
c.5400T>C |
p.N1800= |
Synonymous |
20/20 |
- |
1 |
1-27105793-G-T |
c.5404G>T |
p.E1802* |
Nonsense |
20/20 |
- |
1 |
1-27105792-TGAG-T |
c.5407_5409del |
p.E1803del |
InFrameDeletion |
20/20 |
- |
1 |
1-27105803-CTGATCAGT-C |
c.5414_5421del |
p.L1805Qfs*3 |
Frameshift |
20/20 |
- |
1 |
1-27105805-A-G |
c.5416A>G |
p.I1806V |
Missense |
20/20 |
- |
1 |
1-27105813-G-A |
c.5424G>A |
p.K1808= |
Synonymous |
20/20 |
- |
1 |
1-27105813-G-GT |
c.5427dup |
p.D1810* |
Nonsense |
20/20 |
- |
1 |
1-27105824-T-C |
c.5435T>C |
p.L1812P |
Missense |
20/20 |
- |
1 |
1-27105831-TAAAGATC-T |
c.5442_5448del |
p.K1815Yfs*66 |
Frameshift |
20/20 |
- |
1 |
1-27105839-T-TA |
c.5451dup |
p.Q1818Tfs*4 |
Frameshift |
20/20 |
- |
1 |
1-27105841-C-T |
c.5452C>T |
p.Q1818* |
Nonsense |
20/20 |
- |
1 |
1-27105843-G-GA |
c.5456dup |
p.N1820Efs*2 |
Frameshift |
20/20 |
- |
1 |
1-27105845-A-G |
c.5456A>G |
p.K1819R |
Missense |
20/20 |
- |
1 |
1-27105846-G-GT |
c.5457_5458insT |
p.N1820* |
Nonsense |
20/20 |
- |
1 |
1-27105850-G-T |
c.5461G>T |
p.D1821Y |
Missense |
20/20 |
- |
1 |
1-27105856-T-C |
c.5467T>C |
p.F1823L |
Missense |
20/20 |
- |
1 |
1-27105859-G-T |
c.5470G>T |
p.V1824L |
Missense |
20/20 |
- |
1 |
1-27105862-G-C |
c.5473G>C |
p.V1825L |
Missense |
20/20 |
- |
1 |
1-27105862-G-T |
c.5473G>T |
p.V1825L |
Missense |
20/20 |
- |
1 |
1-27105865-G-T |
c.5476G>T |
p.D1826Y |
Missense |
20/20 |
- |
1 |
1-27105868-T-G |
c.5479T>G |
p.C1827G |
Missense |
20/20 |
- |
1 |
1-27105872-C-A |
c.5483C>A |
p.S1828* |
Nonsense |
20/20 |
- |
2 |
1-27105872-C-G |
c.5483C>G |
p.S1828* |
Nonsense |
20/20 |
- |
2 |
1-27105874-G-C |
c.5485G>C |
p.D1829H |
Missense |
20/20 |
- |
1 |
1-27105877-A-T |
c.5488A>T |
p.K1830* |
Nonsense |
20/20 |
- |
1 |
1-27105878-A-C |
c.5489A>C |
p.K1830T |
Missense |
20/20 |
- |
1 |
1-27105880-C-G |
c.5491C>G |
p.L1831V |
Missense |
20/20 |
- |
1 |
1-27105881-T-C |
c.5492T>C |
p.L1831P |
Missense |
20/20 |
- |
1 |
1-27105886-C-T |
c.5497C>T |
p.R1833C |
Missense |
20/20 |
- |
3 |
1-27105890-T-C |
c.5501T>C |
p.V1834A |
Missense |
20/20 |
- |
1 |
1-27105892-C-T |
c.5503C>T |
p.Q1835* |
Nonsense |
20/20 |
- |
2 |
1-27105893-A-G |
c.5504A>G |
p.Q1835R |
Missense |
20/20 |
- |
1 |
1-27105894-G-GT |
c.5505_5506insT |
p.E1836* |
Nonsense |
20/20 |
- |
1 |
1-27105899-T-A |
c.5510T>A |
p.F1837Y |
Missense |
20/20 |
- |
1 |
1-27105903-C-CT |
c.5514_5515insT |
p.S1839* |
Nonsense |
20/20 |
- |
1 |
1-27105912-G-T |
c.5523G>T |
p.L1841= |
Synonymous |
20/20 |
- |
1 |
1-27105912-G-A |
c.5523G>A |
p.L1841= |
Synonymous |
20/20 |
- |
1 |
1-27105912-G-C |
c.5523G>C |
p.L1841= |
Synonymous |
20/20 |
- |
1 |
1-27105910-C-T |
c.5521C>T |
p.L1841= |
Synonymous |
20/20 |
- |
1 |
1-27105920-G-A |
c.5531G>A |
p.W1844* |
Nonsense |
20/20 |
- |
2 |
1-27105921-G-A |
c.5532G>A |
p.W1844* |
Nonsense |
20/20 |
- |
4 |
1-27105923-G-A |
c.5534G>A |
p.R1845Q |
Missense |
20/20 |
- |
2 |
1-27105928-GGT-TGA |
c.5539_5541delinsTGA |
p.G1847* |
Nonsense |
20/20 |
- |
1 |
1-27105927-T-TG |
c.5540dup |
p.G1848Wfs*6 |
Frameshift |
20/20 |
- |
1 |
1-27105929-G-GT |
c.5541dup |
p.G1848Wfs*6 |
Frameshift |
20/20 |
- |
1 |
1-27105930-T-G |
c.5541T>G |
p.G1847= |
Synonymous |
20/20 |
- |
1 |
1-27105930-T-A |
c.5541T>A |
p.G1847= |
Synonymous |
20/20 |
- |
1 |
1-27105930-T-C |
c.5541T>C |
p.G1847= |
Synonymous |
20/20 |
- |
1 |
1-27105931-G-C |
c.5542G>C |
p.G1848R |
Missense |
20/20 |
- |
1 |
1-27105931-G-T |
c.5542G>T |
p.G1848W |
Missense |
20/20 |
- |
1 |
1-27105932-G-T |
c.5543G>T |
p.G1848V |
Missense |
20/20 |
- |
1 |
1-27105935-G-C |
c.5546G>C |
p.G1849A |
Missense |
20/20 |
- |
1 |
1-27105936-G-GT |
c.5547_5548insT |
p.D1850* |
Nonsense |
20/20 |
- |
4 |
1-27105930-T-TG |
c.5548dup |
p.D1850Gfs*4 |
Frameshift |
20/20 |
- |
16 |
1-27105930-TG-T |
c.5548del |
p.D1850Tfs*33 |
Frameshift |
20/20 |
- |
17 |
1-27105937-G-GA |
c.5549dup |
p.D1850Efs*4 |
Frameshift |
20/20 |
- |
1 |
1-27105944-C-A |
c.5555C>A |
p.T1852N |
Missense |
20/20 |
- |
1 |
1-27105945-TGA-T |
c.5558_5559del |
p.E1853Afs*47 |
Frameshift |
20/20 |
- |
1 |
1-27105955-C-T |
c.5566C>T |
p.Q1856* |
Nonsense |
20/20 |
- |
1 |
1-27105961-C-T |
c.5572C>T |
p.H1858Y |
Missense |
20/20 |
- |
1 |
1-27105966-TC-T |
c.5577del |
p.F1859Lfs*24 |
Frameshift |
20/20 |
- |
1 |
1-27105967-G-T |
c.5578G>T |
p.E1860* |
Nonsense |
20/20 |
- |
1 |
1-27105967-G-A |
c.5578G>A |
p.E1860K |
Missense |
20/20 |
- |
1 |
1-27105970-A-T |
c.5581A>T |
p.S1861C |
Missense |
20/20 |
- |
1 |
1-27105975-G-A |
c.5586G>A |
p.K1862= |
Synonymous |
20/20 |
- |
1 |
1-27105987-G-GC |
c.5600dup |
p.S1868Ffs*33 |
Frameshift |
20/20 |
- |
1 |
1-27105994-C-T |
c.5605C>T |
p.R1869W |
Missense |
20/20 |
- |
1 |
1-27105995-G-A |
c.5606G>A |
p.R1869Q |
Missense |
20/20 |
- |
2 |
1-27106000-TCAC-T |
c.5611_5613del |
p.H1871del |
InFrameDeletion |
20/20 |
- |
1 |
1-27106002-C-T |
c.5613C>T |
p.H1871= |
Synonymous |
20/20 |
- |
1 |
1-27106003-G-A |
c.5614G>A |
p.A1872T |
Missense |
20/20 |
- |
1 |
1-27106004-C-T |
c.5615C>T |
p.A1872V |
Missense |
20/20 |
- |
1 |
1-27106007-C-G |
c.5618C>G |
p.P1873R |
Missense |
20/20 |
- |
1 |
1-27106010-G-A |
c.5621G>A |
p.C1874Y |
Missense |
20/20 |
- |
1 |
1-27106012-C-T |
c.5623C>T |
p.P1875S |
Missense |
20/20 |
- |
1 |
1-27106025-G-A |
c.5636G>A |
p.R1879Q |
Missense |
20/20 |
- |
1 |
1-27106031-A-G |
c.5642A>G |
p.H1881R |
Missense |
20/20 |
- |
1 |
1-27106038-AACAGCAGAGGGTAC-A |
c.5652_5665del |
p.A1885Rfs*11 |
Frameshift |
20/20 |
- |
1 |
1-27106040-CAGCAGAGGGT-C |
c.5653_5662del |
p.A1885Hfs*35 |
Frameshift |
20/20 |
- |
1 |
1-27106045-G-A |
c.5656G>A |
p.E1886K |
Missense |
20/20 |
- |
1 |
1-27106048-G-A |
c.5659G>A |
p.G1887S |
Missense |
20/20 |
- |
1 |
1-27106055-C-T |
c.5666C>T |
p.P1889L |
Missense |
20/20 |
- |
1 |
1-27106058-G-A |
c.5669G>A |
p.G1890E |
Missense |
20/20 |
- |
1 |
1-27106065-A-AG |
c.5677dup |
p.D1893Gfs*8 |
Frameshift |
20/20 |
- |
1 |
1-27106066-G-A |
c.5677G>A |
p.D1893N |
Missense |
20/20 |
- |
1 |
1-27106069-C-T |
c.5680C>T |
p.Q1894* |
Nonsense |
20/20 |
- |
1 |
1-27106067-A-AC |
c.5680dup |
p.Q1894Pfs*7 |
Frameshift |
20/20 |
- |
1 |
1-27106071-G-T |
c.5682G>T |
p.Q1894H |
Missense |
20/20 |
- |
1 |
1-27106072-G-T |
c.5683G>T |
p.E1895* |
Nonsense |
20/20 |
- |
2 |
1-27106087-G-T |
c.5698G>T |
p.D1900Y |
Missense |
20/20 |
- |
1 |
1-27106099-G-C |
c.5710G>C |
p.E1904Q |
Missense |
20/20 |
- |
1 |
1-27106100-A-T |
c.5711A>T |
p.E1904V |
Missense |
20/20 |
- |
1 |
1-27106106-G-A |
c.5717G>A |
p.R1906Q |
Missense |
20/20 |
- |
5 |
1-27106106-G-C |
c.5717G>C |
p.R1906P |
Missense |
20/20 |
- |
1 |
1-27106108-A-T |
c.5719A>T |
p.I1907F |
Missense |
20/20 |
- |
1 |
1-27106117-A-T |
c.5728A>T |
p.T1910S |
Missense |
20/20 |
- |
1 |
1-27106118-C-A |
c.5729C>A |
p.T1910N |
Missense |
20/20 |
- |
1 |
1-27106116-CACTATGGATG-C |
c.5730_5739del |
p.M1911Cfs*9 |
Frameshift |
20/20 |
- |
1 |
1-27106133-T-A |
c.5744T>A |
p.L1915* |
Nonsense |
20/20 |
- |
1 |
1-27106136-C-G |
c.5747C>G |
p.S1916C |
Missense |
20/20 |
- |
1 |
1-27106138-A-G |
c.5749A>G |
p.T1917A |
Missense |
20/20 |
- |
1 |
1-27106150-CA-C |
c.5761del |
p.T1921Pfs*2 |
Frameshift |
20/20 |
- |
1 |
1-27106150-ACCTTGAC-A |
c.5763_5769del |
p.L1922Rfs*32 |
Frameshift |
20/20 |
- |
1 |
1-27106159-G-A |
c.5770G>A |
p.E1924K |
Missense |
20/20 |
- |
2 |
1-27106165-G-T |
c.5776G>T |
p.G1926* |
Nonsense |
20/20 |
- |
1 |
1-27106168-G-C |
c.5779G>C |
p.A1927P |
Missense |
20/20 |
- |
2 |
1-27106171-A-T |
c.5782A>T |
p.K1928* |
Nonsense |
20/20 |
- |
1 |
1-27106173-G-C |
c.5784G>C |
p.K1928N |
Missense |
20/20 |
- |
2 |
1-27106173-G-T |
c.5784G>T |
p.K1928N |
Missense |
20/20 |
- |
1 |
1-27106173-G-GT |
c.5784_5785insT |
p.S1929* |
Nonsense |
20/20 |
- |
1 |
1-27106178-TC-T |
c.5789del |
p.S1930* |
Frameshift |
20/20 |
- |
1 |
1-27106186-A-T |
c.5797A>T |
p.I1933F |
Missense |
20/20 |
- |
1 |
1-27106192-G-T |
c.5803G>T |
p.E1935* |
Nonsense |
20/20 |
- |
1 |
1-27106201-A-G |
c.5812A>G |
p.K1938E |
Missense |
20/20 |
- |
1 |
1-27106203-G-C |
c.5814G>C |
p.K1938N |
Missense |
20/20 |
- |
1 |
1-27106203-G-T |
c.5814G>T |
p.K1938N |
Missense |
20/20 |
- |
1 |
1-27106207-C-T |
c.5818C>T |
p.P1940S |
Missense |
20/20 |
- |
1 |
1-27106208-C-T |
c.5819C>T |
p.P1940L |
Missense |
20/20 |
- |
1 |
1-27106214-G-A |
c.5825G>A |
p.G1942D |
Missense |
20/20 |
- |
1 |
1-27106215-C-T |
c.5826C>T |
p.G1942= |
Synonymous |
20/20 |
- |
1 |
1-27106215-C-G |
c.5826C>G |
p.G1942= |
Synonymous |
20/20 |
- |
1 |
1-27106215-C-A |
c.5826C>A |
p.G1942= |
Synonymous |
20/20 |
- |
1 |
1-27106223-C-T |
c.5834C>T |
p.P1945L |
Missense |
20/20 |
- |
1 |
1-27106228-C-G |
c.5839C>G |
p.Q1947E |
Missense |
20/20 |
- |
1 |
1-27106230-G-GT |
c.5841_5842insT |
p.S1948* |
Nonsense |
20/20 |
- |
1 |
1-27106230-G-T |
c.5841G>T |
p.Q1947H |
Missense |
20/20 |
- |
1 |
1-27106232-G-A |
c.5843G>A |
p.S1948N |
Missense |
20/20 |
- |
2 |
1-27106235-CA-C |
c.5846del |
p.H1949Pfs*7 |
Frameshift |
20/20 |
- |
1 |
1-27106235-A-G |
c.5846A>G |
p.H1949R |
Missense |
20/20 |
- |
1 |
1-27106237-C-G |
c.5848C>G |
p.R1950G |
Missense |
20/20 |
- |
1 |
1-27106238-G-A |
c.5849G>A |
p.R1950Q |
Missense |
20/20 |
- |
1 |
1-27106248-G-A |
c.5859G>A |
p.K1953= |
Synonymous |
20/20 |
- |
1 |
1-27106249-A-G |
c.5860A>G |
p.I1954V |
Missense |
20/20 |
- |
1 |
1-27106260-C-CT |
c.5871_5872insT |
p.E1958* |
Nonsense |
20/20 |
- |
1 |
1-27106261-G-A |
c.5872G>A |
p.E1958K |
Missense |
20/20 |
- |
1 |
1-27106267-C-T |
c.5878C>T |
p.H1960Y |
Missense |
20/20 |
- |
1 |
1-27106269-CAGTAAGG-C |
c.5882_5888del |
p.S1961Mfs*52 |
Frameshift |
20/20 |
- |
1 |
1-27106273-A-T |
c.5884A>T |
p.K1962* |
Nonsense |
20/20 |
- |
1 |
1-27106276-G-A |
c.5887G>A |
p.D1963N |
Missense |
20/20 |
- |
1 |
1-27106278-T-G |
c.5889T>G |
p.D1963E |
Missense |
20/20 |
- |
2 |
1-27106278-T-A |
c.5889T>A |
p.D1963E |
Missense |
20/20 |
- |
1 |
1-27106279-G-A |
c.5890G>A |
p.E1964K |
Missense |
20/20 |
- |
1 |
1-27106279-G-T |
c.5890G>T |
p.E1964* |
Nonsense |
20/20 |
- |
1 |
1-27106282-A-C |
c.5893A>C |
p.T1965P |
Missense |
20/20 |
- |
1 |
1-27106294-A-G |
c.5905A>G |
p.T1969A |
Missense |
20/20 |
- |
1 |
1-27106297-CCTTCTGG-C |
c.5908_5914del |
p.L1970Tfs*43 |
Frameshift |
20/20 |
- |
1 |
1-27106307-G-A |
c.5918G>A |
p.W1973* |
Nonsense |
20/20 |
- |
3 |
1-27106308-G-A |
c.5919G>A |
p.W1973* |
Nonsense |
20/20 |
- |
4 |
1-27106310-A-T |
c.5921A>T |
p.Q1974L |
Missense |
20/20 |
- |
1 |
1-27106310-AG-A |
c.5923del |
p.D1975Ifs*40 |
Frameshift |
20/20 |
- |
1 |
1-27106316-C-T |
c.5927C>T |
p.S1976F |
Missense |
20/20 |
- |
1 |
1-27106328-G-A |
c.5939G>A |
p.R1980H |
Missense |
20/20 |
- |
1 |
1-27106333-G-A |
c.5944G>A |
p.V1982I |
Missense |
20/20 |
- |
6 |
1-27106337-G-C |
c.5948G>C |
p.C1983S |
Missense |
20/20 |
- |
1 |
1-27106335-CTG-C |
c.5952_5953del |
p.S1985Qfs*13 |
Frameshift |
20/20 |
- |
1 |
1-27106342-T-C |
c.5953T>C |
p.S1985P |
Missense |
20/20 |
- |
5 |
1-27106343-C-G |
c.5954C>G |
p.S1985C |
Missense |
20/20 |
- |
1 |
1-27106354-C-T |
c.5965C>T |
p.R1989* |
Nonsense |
20/20 |
- |
30 |
1-27106354-C-G |
c.5965C>G |
p.R1989G |
Missense |
20/20 |
- |
1 |
1-27106359-C-T |
c.5970C>T |
p.S1990= |
Synonymous |
20/20 |
- |
1 |
1-27106362-G-T |
c.5973G>T |
p.L1991= |
Synonymous |
20/20 |
- |
1 |
1-27106364-C-A |
c.5975C>A |
p.S1992* |
Nonsense |
20/20 |
- |
1 |
1-27106364-C-G |
c.5975C>G |
p.S1992* |
Nonsense |
20/20 |
- |
1 |
1-27106364-C-T |
c.5975C>T |
p.S1992L |
Missense |
20/20 |
- |
1 |
1-27106370-GT-G |
c.5981del |
p.V1994Gfs*21 |
Frameshift |
20/20 |
- |
1 |
1-27106372-C-T |
c.5983C>T |
p.P1995S |
Missense |
20/20 |
- |
1 |
1-27106378-A-G |
c.5989A>G |
p.N1997D |
Missense |
20/20 |
- |
1 |
1-27106381-G-C |
c.5992G>C |
p.D1998H |
Missense |
20/20 |
- |
1 |
1-27106384-T-TTCCA |
c.5996_5997insCCAT |
p.E2000Hfs*2 |
Frameshift |
20/20 |
- |
1 |
1-27106387-G-C |
c.5998G>C |
p.E2000Q |
Missense |
20/20 |
- |
1 |
1-27106387-G-T |
c.5998G>T |
p.E2000* |
Nonsense |
20/20 |
- |
1 |
1-27106393-TCCAAA-T |
c.6006_6010del |
p.K2003Pfs*28 |
Frameshift |
20/20 |
- |
1 |
1-27106404-AGGGCTGCTGCTCATCCT-A |
c.6020_6036del |
p.L2007Qfs*20 |
Frameshift |
20/20 |
- |
1 |
1-27106406-GGCT-G |
c.6024_6026del |
p.L2009del |
InFrameDeletion |
20/20 |
- |
1 |
1-27106407-GCTGCTGCTCATCCTGGGCAAGCTGATC-G |
c.6026_6052del |
p.L2009_L2017del |
InFrameDeletion |
20/20 |
- |
2 |
1-27106421-T-A |
c.6032T>A |
p.L2011Q |
Missense |
20/20 |
- |
1 |
1-27106423-G-C |
c.6034G>C |
p.G2012R |
Missense |
20/20 |
- |
3 |
1-27106423-G-T |
c.6034G>T |
p.G2012C |
Missense |
20/20 |
- |
1 |
1-27106424-G-A |
c.6035G>A |
p.G2012D |
Missense |
20/20 |
- |
1 |
1-27106438-C-A |
c.6049C>A |
p.L2017M |
Missense |
20/20 |
- |
1 |
1-27106445-CACAAGCACCCAGAACGGAA-C |
c.6056_6074del |
p.H2019Rfs*5 |
Frameshift |
20/20 |
- |
1 |
1-27106447-A-T |
c.6058A>T |
p.K2020* |
Nonsense |
20/20 |
- |
1 |
1-27106451-A-T |
c.6062A>T |
p.H2021L |
Missense |
20/20 |
- |
1 |
1-27106456-G-T |
c.6067G>T |
p.E2023* |
Nonsense |
20/20 |
- |
1 |
1-27106459-C-T |
c.6070C>T |
p.R2024W |
Missense |
20/20 |
- |
2 |
1-27106465-C-T |
c.6076C>T |
p.Q2026* |
Nonsense |
20/20 |
- |
4 |
1-27106469-C-T |
c.6080C>T |
p.A2027V |
Missense |
20/20 |
- |
1 |
1-27106481-A-TT |
c.6092delinsTT |
p.Y2031Ffs*2 |
Frameshift |
20/20 |
- |
1 |
1-27106479-TTA-T |
c.6092_6093del |
p.Y2031* |
Frameshift |
20/20 |
- |
1 |
1-27106482-T-A |
c.6093T>A |
p.Y2031* |
Nonsense |
20/20 |
- |
1 |
1-27106482-T-G |
c.6093T>G |
p.Y2031* |
Nonsense |
20/20 |
- |
1 |
1-27106483-G-A |
c.6094G>A |
p.E2032K |
Missense |
20/20 |
- |
1 |
1-27106486-A-T |
c.6097A>T |
p.K2033* |
Nonsense |
20/20 |
- |
1 |
1-27106483-GA-G |
c.6098del |
p.K2033Rfs*9 |
Frameshift |
20/20 |
- |
1 |
1-27106491-G-A |
c.6102G>A |
p.E2034= |
Synonymous |
20/20 |
- |
1 |
1-27106492-G-T |
c.6103G>T |
p.E2035* |
Nonsense |
20/20 |
- |
1 |
1-27106501-G-A |
c.6112G>A |
p.D2038N |
Missense |
20/20 |
- |
1 |
1-27106504-C-T |
c.6115C>T |
p.Q2039* |
Nonsense |
20/20 |
- |
3 |
1-27106507-G-A |
c.6118G>A |
p.G2040R |
Missense |
20/20 |
- |
1 |
1-27106511-T-C |
c.6122T>C |
p.V2041A |
Missense |
20/20 |
- |
2 |
1-27106519-A-G |
c.6130A>G |
p.N2044D |
Missense |
20/20 |
- |
1 |
1-27106525-GTG-ATC |
c.6136_6138delinsATC |
p.V2046I |
Missense |
20/20 |
- |
1 |
1-27106528-G-T |
c.6139G>T |
p.E2047* |
Nonsense |
20/20 |
- |
2 |
1-27106532-G-A |
c.6143G>A |
p.W2048* |
Nonsense |
20/20 |
- |
1 |
1-27106533-G-A |
c.6144G>A |
p.W2048* |
Nonsense |
20/20 |
- |
1 |
1-27106536-G-A |
c.6147G>A |
p.W2049* |
Nonsense |
20/20 |
- |
2 |
1-27106535-G-A |
c.6146G>A |
p.W2049* |
Nonsense |
20/20 |
- |
2 |
1-27106538-G-A |
c.6149G>A |
p.W2050* |
Nonsense |
20/20 |
- |
1 |
1-27106539-G-A |
c.6150G>A |
p.W2050* |
Nonsense |
20/20 |
- |
1 |
1-27106545-C-A |
c.6156C>A |
p.C2052* |
Nonsense |
20/20 |
- |
1 |
1-27106545-C-CA |
c.6156_6157insA |
p.L2053Ifs*46 |
Frameshift |
20/20 |
- |
1 |
1-27106545-CT-C |
c.6158del |
p.L2053Wfs*82 |
Frameshift |
20/20 |
- |
1 |
1-27106549-G-T |
c.6160G>T |
p.E2054* |
Nonsense |
20/20 |
- |
1 |
1-27106550-GAGATGCTCCGGGAAAACACC-G |
c.6161_6180del |
p.E2054Vfs*38 |
Frameshift |
20/20 |
- |
1 |
1-27106555-C-A |
c.6166C>A |
p.L2056I |
Missense |
20/20 |
- |
1 |
1-27106558-C-T |
c.6169C>T |
p.R2057W |
Missense |
20/20 |
- |
1 |
1-27106563-AAAC-A |
c.6176_6178del |
p.N2059del |
InFrameDeletion |
20/20 |
- |
1 |
1-27106571-T-C |
c.6182T>C |
p.L2061S |
Missense |
20/20 |
- |
1 |
1-27106577-C-G |
c.6188C>G |
p.T2063R |
Missense |
20/20 |
- |
1 |
1-27106579-CTC-TAA |
c.6190_6192delinsTAA |
p.L2064* |
Nonsense |
20/20 |
- |
1 |
1-27106581-C-T |
c.6192C>T |
p.L2064= |
Synonymous |
20/20 |
- |
1 |
1-27106581-C-G |
c.6192C>G |
p.L2064= |
Synonymous |
20/20 |
- |
1 |
1-27106581-C-A |
c.6192C>A |
p.L2064= |
Synonymous |
20/20 |
- |
1 |
1-27106585-A-G |
c.6196A>G |
p.N2066D |
Missense |
20/20 |
- |
1 |
1-27106586-A-G |
c.6197A>G |
p.N2066S |
Missense |
20/20 |
- |
1 |
1-27106589-T-G |
c.6200T>G |
p.I2067S |
Missense |
20/20 |
- |
1 |
1-27106592-C-A |
c.6203C>A |
p.S2068* |
Nonsense |
20/20 |
- |
1 |
1-27106592-CG-C |
c.6207del |
p.Q2070Sfs*65 |
Frameshift |
20/20 |
- |
1 |
1-27106597-C-T |
c.6208C>T |
p.Q2070* |
Nonsense |
20/20 |
- |
4 |
1-27106600-T-C |
c.6211T>C |
p.L2071= |
Synonymous |
20/20 |
- |
1 |
1-27106602-G-A |
c.6213G>A |
p.L2071= |
Synonymous |
20/20 |
- |
1 |
1-27106617-C-G |
c.6228C>G |
p.Y2076* |
Nonsense |
20/20 |
- |
1 |
1-27106617-C-A |
c.6228C>A |
p.Y2076* |
Nonsense |
20/20 |
- |
1 |
1-27106621-G-T |
c.6232G>T |
p.E2078* |
Nonsense |
20/20 |
- |
4 |
1-27106621-G-A |
c.6232G>A |
p.E2078K |
Missense |
20/20 |
- |
2 |
1-27106625-G-T |
c.6236G>T |
p.S2079I |
Missense |
20/20 |
- |
1 |
1-27106640-T-G |
c.6251T>G |
p.V2084G |
Missense |
20/20 |
- |
1 |
1-27106641-C-G |
c.6252C>G |
p.V2084= |
Synonymous |
20/20 |
- |
1 |
1-27106641-C-T |
c.6252C>T |
p.V2084= |
Synonymous |
20/20 |
- |
1 |
1-27106642-C-A |
c.6253C>A |
p.L2085M |
Missense |
20/20 |
- |
1 |
1-27106640-TC-T |
c.6253del |
p.L2085Wfs*50 |
Frameshift |
20/20 |
- |
1 |
1-27106643-T-G |
c.6254T>G |
p.L2085R |
Missense |
20/20 |
- |
2 |
1-27106648-G-T |
c.6259G>T |
p.G2087* |
Nonsense |
20/20 |
- |
2 |
1-27106648-G-A |
c.6259G>A |
p.G2087R |
Missense |
20/20 |
- |
14 |
1-27106648-G-C |
c.6259G>C |
p.G2087R |
Missense |
20/20 |
- |
5 |
1-27106648-GGA-AAC |
c.6259_6261delinsAAC |
p.G2087N |
Missense |
20/20 |
- |
1 |
1-27106649-G-A |
c.6260G>A |
p.G2087E |
Missense |
20/20 |
- |
2 |
1-27106649-G-T |
c.6260G>T |
p.G2087V |
Missense |
20/20 |
- |
2 |
1-27106650-ACTC-A |
c.6264_6266del |
p.L2089del |
InFrameDeletion |
20/20 |
- |
1 |
1-27106655-T-C |
c.6266T>C |
p.L2089P |
Missense |
20/20 |
- |
1 |
1-27106658-A-G |
c.6269A>G |
p.H2090R |
Missense |
20/20 |
- |
1 |
1-27106663-G-C |
c.6274G>C |
p.A2092P |
Missense |
20/20 |
- |
1 |
1-27106664-C-T |
c.6275C>T |
p.A2092V |
Missense |
20/20 |
- |
1 |
1-27106664-C-A |
c.6275C>A |
p.A2092E |
Missense |
20/20 |
- |
1 |
1-27106665-A-T |
c.6276A>T |
p.A2092= |
Synonymous |
20/20 |
- |
1 |
1-27106672-C-T |
c.6283C>T |
p.P2095S |
Missense |
20/20 |
- |
1 |
1-27106676-C-G |
c.6287C>G |
p.S2096* |
Nonsense |
20/20 |
- |
1 |
1-27106687-C-T |
c.6298C>T |
p.Q2100* |
Nonsense |
20/20 |
- |
3 |
1-27106689-G-GT |
c.6300_6301insT |
p.D2101* |
Nonsense |
20/20 |
- |
2 |
1-27106690-G-GA |
c.6302dup |
p.D2101Efs*49 |
Frameshift |
20/20 |
- |
1 |
1-27106691-A-C |
c.6302A>C |
p.D2101A |
Missense |
20/20 |
- |
1 |
1-27106693-C-T |
c.6304C>T |
p.P2102S |
Missense |
20/20 |
- |
1 |
1-27106691-AC-A |
c.6306del |
p.S2104Pfs*31 |
Frameshift |
20/20 |
- |
1 |
1-27106703-C-T |
c.6314C>T |
p.T2105I |
Missense |
20/20 |
- |
1 |
1-27106723-C-T |
c.6334C>T |
p.L2112F |
Missense |
20/20 |
- |
1 |
1-27106726-T-G |
c.6337T>G |
p.S2113A |
Missense |
20/20 |
- |
1 |
1-27106727-C-T |
c.6338C>T |
p.S2113F |
Missense |
20/20 |
- |
1 |
1-27106726-TC-T |
c.6341del |
p.P2114Rfs*21 |
Frameshift |
20/20 |
- |
1 |
1-27106732-C-T |
c.6343C>T |
p.Q2115* |
Nonsense |
20/20 |
- |
1 |
1-27106735-A-T |
c.6346A>T |
p.R2116* |
Nonsense |
20/20 |
- |
1 |
1-27106732-CAG-C |
c.6347_6348del |
p.R2116Tfs*33 |
Frameshift |
20/20 |
- |
1 |
1-27106736-G-C |
c.6347G>C |
p.R2116T |
Missense |
20/20 |
- |
1 |
1-27106738-C-A |
c.6349C>A |
p.L2117M |
Missense |
20/20 |
- |
1 |
1-27106745-T-C |
c.6356T>C |
p.L2119S |
Missense |
20/20 |
- |
1 |
1-27106747-G-T |
c.6358G>T |
p.E2120* |
Nonsense |
20/20 |
- |
1 |
1-27106748-A-C |
c.6359A>C |
p.E2120A |
Missense |
20/20 |
- |
1 |
1-27106771-C-T |
c.6382C>T |
p.Q2128* |
Nonsense |
20/20 |
- |
4 |
1-27106769-TC-T |
c.6382del |
p.Q2128Rfs*7 |
Frameshift |
20/20 |
- |
1 |
1-27106783-G-A |
c.6394G>A |
p.V2132M |
Missense |
20/20 |
- |
1 |
1-27106784-T-G |
c.6395T>G |
p.V2132G |
Missense |
20/20 |
- |
1 |
1-27106787-AC-A |
c.6400del |
p.L2134* |
Frameshift |
20/20 |
- |
1 |
1-27106788-CCTGATT-C |
c.6403_6408del |
p.I2135_L2136del |
InFrameDeletion |
20/20 |
- |
2 |
1-27106792-A-C |
c.6403A>C |
p.I2135L |
Missense |
20/20 |
- |
1 |
1-27106793-T-A |
c.6404T>A |
p.I2135N |
Missense |
20/20 |
- |
1 |
1-27106795-TCTG-T |
c.6406_6408del |
p.L2136del |
InFrameDeletion |
20/20 |
- |
1 |
1-27106801-CA-C |
c.6412del |
p.T2138Hfs*62 |
Frameshift |
20/20 |
- |
1 |
1-27106801-CACA-C |
c.6412_6414del |
p.T2138del |
InFrameDeletion |
20/20 |
- |
1 |
1-27106807-C-A |
c.6418C>A |
p.P2140T |
Missense |
20/20 |
- |
1 |
1-27106808-C-T |
c.6419C>T |
p.P2140L |
Missense |
20/20 |
- |
1 |
1-27106803-AC-A |
c.6420del |
p.F2141Sfs*59 |
Frameshift |
20/20 |
- |
4 |
1-27106809-CT-C |
c.6422del |
p.F2141Sfs*59 |
Frameshift |
20/20 |
- |
1 |
1-27106812-TC-T |
c.6423del |
p.F2141Lfs*59 |
Frameshift |
20/20 |
- |
1 |
1-27106812-TCAGCCGCC-T |
c.6423_6430del |
p.S2142Gfs*5 |
Frameshift |
20/20 |
- |
1 |
1-27106816-C-T |
c.6427C>T |
p.R2143C |
Missense |
20/20 |
- |
1 |
1-27106817-G-A |
c.6428G>A |
p.R2143H |
Missense |
20/20 |
- |
1 |
1-27106825-A-T |
c.6436A>T |
p.K2146* |
Nonsense |
20/20 |
- |
1 |
1-27106826-A-T |
c.6437A>T |
p.K2146M |
Missense |
20/20 |
- |
1 |
1-27106829-T-A |
c.6440T>A |
p.L2147* |
Nonsense |
20/20 |
- |
1 |
1-27106833-T-A |
c.6444T>A |
p.Y2148* |
Nonsense |
20/20 |
- |
1 |
1-27106833-T-G |
c.6444T>G |
p.Y2148* |
Nonsense |
20/20 |
- |
1 |
1-27106846-C-T |
c.6457C>T |
p.R2153C |
Missense |
20/20 |
- |
2 |
1-27106847-G-T |
c.6458G>T |
p.R2153L |
Missense |
20/20 |
- |
1 |
1-27106852-CT-AG |
c.6463_6464inv |
p.L2155S |
Missense |
20/20 |
- |
1 |
1-27106853-T-G |
c.6464T>G |
p.L2155R |
Missense |
20/20 |
- |
2 |
1-27106854-C-T |
c.6465C>T |
p.L2155= |
Synonymous |
20/20 |
- |
1 |
1-27106854-C-G |
c.6465C>G |
p.L2155= |
Synonymous |
20/20 |
- |
1 |
1-27106854-C-A |
c.6465C>A |
p.L2155= |
Synonymous |
20/20 |
- |
1 |
1-27106858-G-T |
c.6469G>T |
p.D2157Y |
Missense |
20/20 |
- |
1 |
1-27106861-C-T |
c.6472C>T |
p.R2158* |
Nonsense |
20/20 |
- |
4 |
1-27106861-C-G |
c.6472C>G |
p.R2158G |
Missense |
20/20 |
- |
1 |
1-27106862-G-A |
c.6473G>A |
p.R2158Q |
Missense |
20/20 |
- |
1 |
1-27106862-GAAAGA-G |
c.6475_6479del |
p.K2159Pfs*64 |
Frameshift |
20/20 |
- |
1 |
1-27106861-CGAAA-C |
c.6476_6479del |
p.K2159Tfs*40 |
Frameshift |
20/20 |
- |
1 |
1-27106879-CG-TA |
c.6490_6491delinsTA |
p.R2164* |
Missense |
20/20 |
- |
1 |
1-27106882-G-T |
c.6493G>T |
p.E2165* |
Nonsense |
20/20 |
- |
2 |
1-27106895-T-G |
c.6506T>G |
p.V2169G |
Missense |
20/20 |
- |
1 |
1-27106898-T-C |
c.6509T>C |
p.L2170P |
Missense |
20/20 |
- |
1 |
1-27106901-T-C |
c.6512T>C |
p.L2171P |
Missense |
20/20 |
- |
1 |
1-27106905-C-G |
c.6516C>G |
p.A2172= |
Synonymous |
20/20 |
- |
1 |
1-27106907-A-G |
c.6518A>G |
p.N2173S |
Missense |
20/20 |
- |
1 |
1-27106915-C-T |
c.6526C>T |
p.Q2176* |
Nonsense |
20/20 |
- |
1 |
1-27106916-CAG-C |
c.6527_6528del |
p.Q2176Rfs*48 |
Frameshift |
20/20 |
- |
2 |
1-27106920-G-GT |
c.6531_6532insT |
p.D2178* |
Nonsense |
20/20 |
- |
1 |
1-27106916-AG-A |
c.6532del |
p.D2178Tfs*22 |
Frameshift |
20/20 |
- |
1 |
1-27106929-TGGCAGCTCGTG-T |
c.6540_6550del |
p.A2181Hfs*40 |
Frameshift |
20/20 |
- |
1 |
1-27106928-TG-T |
c.6541del |
p.A2181Qfs*19 |
Frameshift |
20/20 |
- |
1 |
1-27106934-C-A |
c.6545C>A |
p.A2182D |
Missense |
20/20 |
- |
1 |
1-27106936-C-T |
c.6547C>T |
p.R2183C |
Missense |
20/20 |
- |
1 |
1-27106940-C-T |
c.6551C>T |
p.A2184V |
Missense |
20/20 |
- |
1 |
1-27106954-A-T |
c.6565A>T |
p.K2189* |
Nonsense |
20/20 |
- |
1 |
1-27106958-G-C |
c.6569G>C |
p.G2190A |
Missense |
20/20 |
- |
1 |
1-27106956-GGGCAGTATC-G |
c.6572_6580del |
p.S2191_G2193del |
InFrameDeletion |
20/20 |
- |
1 |
1-27106971-C-T |
c.6582C>T |
p.N2194= |
Synonymous |
20/20 |
- |
1 |
1-27106973-T-G |
c.6584T>G |
p.L2195R |
Missense |
20/20 |
- |
1 |
1-27106986-TA-T |
c.6597del |
p.E2200Rfs*31 |
Frameshift |
20/20 |
- |
1 |
1-27106988-A-AG |
c.6601dup |
p.D2201Gfs*24 |
Frameshift |
20/20 |
- |
1 |
1-27107002-G-A |
c.6613G>A |
p.A2205T |
Missense |
20/20 |
- |
1 |
1-27107009-A-G |
c.6620A>G |
p.Q2207R |
Missense |
20/20 |
- |
1 |
1-27107012-TC-T |
c.6625del |
p.Q2209Sfs*22 |
Frameshift |
20/20 |
- |
1 |
1-27107014-C-T |
c.6625C>T |
p.Q2209* |
Nonsense |
20/20 |
- |
1 |
1-27107027-C-T |
c.6638C>T |
p.A2213V |
Missense |
20/20 |
- |
1 |
1-27107035-C-T |
c.6646C>T |
p.L2216F |
Missense |
20/20 |
- |
1 |
1-27107043-G-C |
c.6654G>C |
p.M2218I |
Missense |
20/20 |
- |
1 |
1-27107048-A-G |
c.6659A>G |
p.N2220S |
Missense |
20/20 |
- |
2 |
1-27107059-G-C |
c.6670G>C |
p.E2224Q |
Missense |
20/20 |
- |
1 |
1-27107076-C-A |
c.6687C>A |
p.D2229E |
Missense |
20/20 |
- |
1 |
1-27107083-C-T |
c.6694C>T |
p.R2232W |
Missense |
20/20 |
- |
2 |
1-27107084-G-A |
c.6695G>A |
p.R2232Q |
Missense |
20/20 |
- |
1 |
1-27107084-CGGCGGGCTGCCCG-C |
c.6695_6707del |
p.R2232Pfs*31 |
Frameshift |
20/20 |
- |
1 |
1-27107084-G-T |
c.6695G>T |
p.R2232L |
Missense |
20/20 |
- |
1 |
1-27107086-C-T |
c.6697C>T |
p.R2233W |
Missense |
20/20 |
- |
1 |
1-27107086-CGGGCT-C |
c.6699_6703del |
p.A2234Pfs*42 |
Frameshift |
20/20 |
- |
1 |
1-27107090-C-T |
c.6701C>T |
p.A2234V |
Missense |
20/20 |
- |
1 |
1-27107091-CT-C |
c.6702del |
p.A2235Pfs*32 |
Frameshift |
20/20 |
- |
1 |
1-27107095-C-T |
c.6706C>T |
p.R2236C |
Missense |
20/20 |
- |
1 |
1-27107095-C-A |
c.6706C>A |
p.R2236S |
Missense |
20/20 |
- |
1 |
1-27107096-G-A |
c.6707G>A |
p.R2236H |
Missense |
20/20 |
- |
1 |
1-27107098-G-A |
c.6709G>A |
p.A2237T |
Missense |
20/20 |
- |
1 |
1-27107099-C-CT |
c.6710_6711insT |
p.L2238Afs*40 |
Frameshift |
20/20 |
- |
1 |
1-27107105-T-C |
c.6716T>C |
p.L2239P |
Missense |
20/20 |
- |
1 |
1-27107106-T-TG |
c.6718dup |
p.A2240Gfs*38 |
Frameshift |
20/20 |
- |
1 |
1-27107107-G-GC |
c.6720dup |
p.A2242Gfs*36 |
Frameshift |
20/20 |
- |
1 |
1-27107114-C-A |
c.6725C>A |
p.A2242D |
Missense |
20/20 |
- |
1 |
1-27107119-G-T |
c.6730G>T |
p.V2244L |
Missense |
20/20 |
- |
1 |
1-27107120-GT-G |
c.6731del |
p.V2244Gfs*23 |
Frameshift |
20/20 |
- |
1 |
1-27107120-T-G |
c.6731T>G |
p.V2244G |
Missense |
20/20 |
- |
1 |
1-27107124-C-T |
c.6735C>T |
p.D2245= |
Synonymous |
20/20 |
- |
1 |
1-27107135-C-T |
c.6746C>T |
p.S2249L |
Missense |
20/20 |
- |
1 |
1-27107136-A-AT |
c.6747_6748insT |
p.E2250* |
Nonsense |
20/20 |
- |
1 |
1-27107135-C-CA |
c.6747dup |
p.E2250Rfs*28 |
Frameshift |
20/20 |
- |
1 |
1-27107137-G-T |
c.6748G>T |
p.E2250* |
Nonsense |
20/20 |
- |
1 |
1-27107137-G-GTA |
c.6748_6749insTA |
p.E2250Vfs*18 |
Frameshift |
20/20 |
- |
1 |
1-27107146-TC-T |
c.6757del |
p.L2253Cfs*14 |
Frameshift |
20/20 |
- |
1 |
1-27107146-CTG-C |
c.6759_6760del |
p.Y2254Rfs*23 |
Frameshift |
20/20 |
- |
1 |
1-27107146-CTGTACGAA-C |
c.6759_6766del |
p.Y2254Tfs*21 |
Frameshift |
20/20 |
- |
1 |
1-27107151-C-G |
c.6762C>G |
p.Y2254* |
Nonsense |
20/20 |
- |
3 |
1-27107151-C-A |
c.6762C>A |
p.Y2254* |
Nonsense |
20/20 |
- |
2 |
1-27107152-G-T |
c.6763G>T |
p.E2255* |
Nonsense |
20/20 |
- |
2 |
1-27107152-G-A |
c.6763G>A |
p.E2255K |
Missense |
20/20 |
- |
1 |
1-27107156-C-A |
c.6767C>A |
p.S2256* |
Nonsense |
20/20 |
- |
1 |
1-27107156-C-G |
c.6767C>G |
p.S2256* |
Nonsense |
20/20 |
- |
1 |
1-27107162-T-TG |
c.6774dup |
p.L2259Vfs*19 |
Frameshift |
20/20 |
- |
1 |
1-27107164-TTGGACATC-T |
c.6777_6784del |
p.L2259Ffs*16 |
Frameshift |
20/20 |
- |
1 |
1-27107174-C-T |
c.6785C>T |
p.S2262L |
Missense |
20/20 |
- |
1 |
1-27107176-G-GA |
c.6787_6788insA |
p.V2263Dfs*15 |
Frameshift |
20/20 |
- |
1 |
1-27107176-G-A |
c.6787G>A |
p.V2263I |
Missense |
20/20 |
- |
1 |
1-27107180-C-G |
c.6791C>G |
p.S2264* |
Nonsense |
20/20 |
- |
3 |
1-27107180-C-T |
c.6791C>T |
p.S2264L |
Missense |
20/20 |
- |
2 |
1-27107180-C-A |
c.6791C>A |
p.S2264* |
Nonsense |
20/20 |
- |
1 |
1-27107183-C-A |
c.6794C>A |
p.P2265Q |
Missense |
20/20 |
- |
1 |
1-27107183-CCGTT-C |
c.6794_6797del |
p.P2265Rfs*2 |
Frameshift |
20/20 |
- |
1 |
1-27107195-C-T |
c.6806C>T |
p.S2269L |
Missense |
20/20 |
- |
1 |
1-27107195-C-A |
c.6806C>A |
p.S2269* |
Nonsense |
20/20 |
- |
2 |
1-27107195-C-G |
c.6806C>G |
p.S2269* |
Nonsense |
20/20 |
- |
3 |
1-27107208-A-T |
c.6819A>T |
p.Q2273H |
Missense |
20/20 |
- |
1 |
1-27107208-A-C |
c.6819A>C |
p.Q2273H |
Missense |
20/20 |
- |
1 |
1-27107209-AGTCATTTGTG-A |
c.6820_6829del |
p.V2274Mfs*5 |
Frameshift |
20/20 |
- |
1 |
1-27107213-T-G |
c.6824T>G |
p.I2275S |
Missense |
20/20 |
- |
1 |
1-27107214-TTG-T |
c.6828_6829del |
p.C2276* |
Frameshift |
20/20 |
- |
1 |
1-27107221-TGTACTGTTTTTGATTGGC-T |
c.6832_6849del |
p.V2278_G2283del |
InFrameDeletion |
20/20 |
- |
1 |
1-27107226-G-GT |
c.6842dup |
p.L2281Ffs*104 |
Frameshift |
20/20 |
- |
1 |
1-27107226-GT-G |
c.6842del |
p.L2281* |
Frameshift |
20/20 |
- |
1 |
1-27107232-G-T |
c.6843G>T |
p.L2281F |
Missense |
20/20 |
- |
3 |
1-27107232-G-C |
c.6843G>C |
p.L2281F |
Missense |
20/20 |
- |
1 |
1-27107237-G-A |
c.6848G>A |
p.G2283D |
Missense |
20/20 |
- |
1 |
1-27107240-A-G |
c.6851A>G |
p.Q2284R |
Missense |
20/20 |
- |
1 |
1-27108245-T-C |
c.*998T>C |
- |
3-UTRSNV |
20/20 |
- |
2 |