1-27022868-C-T |
c.-27C>T |
- |
5-UTRSNV |
1/20 |
- |
1 |
1-27022896-T-C |
c.2T>C |
p.M1? |
Missense |
1/20 |
- |
1 |
1-27022899-C-T |
c.5C>T |
p.A2V |
Missense |
1/20 |
- |
1 |
1-27022901-G-A |
c.7G>A |
p.A3T |
Missense |
1/20 |
- |
1 |
1-27022901-G-T |
c.7G>T |
p.A3S |
Missense |
1/20 |
- |
1 |
1-27022902-C-T |
c.8C>T |
p.A3V |
Missense |
1/20 |
- |
1 |
1-27022903-G-A |
c.9G>A |
p.A3= |
Synonymous |
1/20 |
- |
1 |
1-27022904-C-G |
c.10C>G |
p.Q4E |
Missense |
1/20 |
- |
2 |
1-27022904-C-T |
c.10C>T |
p.Q4* |
Nonsense |
1/20 |
- |
3 |
1-27022906-G-A |
c.12G>A |
p.Q4= |
Synonymous |
1/20 |
- |
1 |
1-27022906-G-C |
c.12G>C |
p.Q4H |
Missense |
1/20 |
- |
2 |
1-27022906-G-T |
c.12G>T |
p.Q4H |
Missense |
1/20 |
- |
2 |
1-27022905-A-AG |
c.13dup |
p.V5Gfs*106 |
Frameshift |
1/20 |
- |
1 |
1-27022907-G-T |
c.13G>T |
p.V5F |
Missense |
1/20 |
- |
1 |
1-27022909-C-A |
c.15C>A |
p.V5= |
Synonymous |
1/20 |
- |
1 |
1-27022910-G-A |
c.16G>A |
p.A6T |
Missense |
1/20 |
- |
2 |
1-27022911-C-T |
c.17C>T |
p.A6V |
Missense |
1/20 |
- |
2 |
1-27022910-GCCCCCGCCGCCGCCAGCAGCCTGGGCAAC-G |
c.19_47del |
p.P7Afs*94 |
Frameshift |
1/20 |
- |
1 |
1-27022913-C-G |
c.19C>G |
p.P7A |
Missense |
1/20 |
- |
1 |
1-27022914-C-T |
c.20C>T |
p.P7L |
Missense |
1/20 |
- |
1 |
1-27022910-GC-G |
c.21del |
p.A8Pfs*17 |
Frameshift |
1/20 |
- |
1 |
1-27022915-C-A |
c.21C>A |
p.P7= |
Synonymous |
1/20 |
- |
1 |
1-27022915-C-G |
c.21C>G |
p.P7= |
Synonymous |
1/20 |
- |
1 |
1-27022915-C-T |
c.21C>T |
p.P7= |
Synonymous |
1/20 |
- |
1 |
1-27022916-G-A |
c.22G>A |
p.A8T |
Missense |
1/20 |
- |
3 |
1-27022916-G-T |
c.22G>T |
p.A8S |
Missense |
1/20 |
- |
1 |
1-27022917-C-G |
c.23C>G |
p.A8G |
Missense |
1/20 |
- |
1 |
1-27022917-C-T |
c.23C>T |
p.A8V |
Missense |
1/20 |
- |
1 |
1-27022919-G-A |
c.25G>A |
p.A9T |
Missense |
1/20 |
- |
3 |
1-27022920-C-T |
c.26C>T |
p.A9V |
Missense |
1/20 |
- |
1 |
1-27022922-G-A |
c.28G>A |
p.A10T |
Missense |
1/20 |
- |
2 |
1-27022922-G-C |
c.28G>C |
p.A10P |
Missense |
1/20 |
- |
1 |
1-27022922-GCC-ATG |
c.28_30delinsATG |
p.A10M |
Missense |
1/20 |
- |
3 |
1-27022922-GCC-TGG |
c.28_30delinsTGG |
p.A10W |
Missense |
1/20 |
- |
1 |
1-27022922-GC-TA |
c.28_29delinsTA |
p.A10Y |
Missense |
1/20 |
- |
6 |
1-27022922-GC-TG |
c.28_29delinsTG |
p.A10C |
Missense |
1/20 |
- |
5 |
1-27022922-GC-TT |
c.28_29delinsTT |
p.A10F |
Missense |
1/20 |
- |
1 |
1-27022922-G-T |
c.28G>T |
p.A10S |
Missense |
1/20 |
- |
5 |
1-27022923-C-G |
c.29C>G |
p.A10G |
Missense |
1/20 |
- |
2 |
1-27022912-CCCCGCCGCCGCCAGCAGCCTGGGCAA-C |
c.31_56del |
p.S11Afs*91 |
Frameshift |
1/20 |
- |
10 |
1-27022913-CCCGCCGCCGCCAGCAGCCTGGGCAACCCGCCG-C |
c.31_62del |
p.S11Lfs*89 |
Frameshift |
1/20 |
- |
1 |
1-27022925-A-G |
c.31A>G |
p.S11G |
Missense |
1/20 |
- |
4 |
1-27022925-AG-CA |
c.31_32delinsCA |
p.S11H |
Missense |
1/20 |
- |
1 |
1-27022925-AG-CC |
c.31_32delinsCC |
p.S11P |
Missense |
1/20 |
- |
1 |
1-27022925-AGC-GAG |
c.31_33delinsGAG |
p.S11E |
Missense |
1/20 |
- |
5 |
1-27022925-AG-GA |
c.31_32delinsGA |
p.S11D |
Missense |
1/20 |
- |
8 |
1-27022925-AG-GC |
c.31_32delinsGC |
p.S11A |
Missense |
1/20 |
- |
23 |
1-27022925-AG-TT |
c.31_32delinsTT |
p.S11F |
Missense |
1/20 |
- |
1 |
1-27022925-A-T |
c.31A>T |
p.S11C |
Missense |
1/20 |
- |
10 |
1-27022926-G-A |
c.32G>A |
p.S11N |
Missense |
1/20 |
- |
1 |
1-27022925-A-C |
c.31A>C |
p.S11R |
Missense |
1/20 |
- |
1 |
1-27022927-C-A |
c.33C>A |
p.S11R |
Missense |
1/20 |
- |
1 |
1-27022927-C-G |
c.33C>G |
p.S11R |
Missense |
1/20 |
- |
1 |
1-27022928-AGC-GAG |
c.34_36delinsGAG |
p.S12E |
Missense |
1/20 |
- |
5 |
1-27022928-AG-GA |
c.34_35delinsGA |
p.S12D |
Missense |
1/20 |
- |
4 |
1-27022928-AG-GC |
c.34_35delinsGC |
p.S12A |
Missense |
1/20 |
- |
23 |
1-27022928-AG-TT |
c.34_35delinsTT |
p.S12F |
Missense |
1/20 |
- |
1 |
1-27022928-A-T |
c.34A>T |
p.S12C |
Missense |
1/20 |
- |
8 |
1-27022929-G-A |
c.35G>A |
p.S12N |
Missense |
1/20 |
- |
3 |
1-27022929-G-C |
c.35G>C |
p.S12T |
Missense |
1/20 |
- |
1 |
1-27022929-G-T |
c.35G>T |
p.S12I |
Missense |
1/20 |
- |
2 |
1-27022931-CT-GC |
c.37_38delinsGC |
p.L13A |
Missense |
1/20 |
- |
3 |
1-27022932-T-G |
c.38T>G |
p.L13R |
Missense |
1/20 |
- |
1 |
1-27022934-G-A |
c.40G>A |
p.G14S |
Missense |
1/20 |
- |
2 |
1-27022934-G-T |
c.40G>T |
p.G14C |
Missense |
1/20 |
- |
1 |
1-27022935-G-A |
c.41G>A |
p.G14D |
Missense |
1/20 |
- |
4 |
1-27022935-GC-AG |
c.41_42delinsAG |
p.G14E |
Missense |
1/20 |
- |
1 |
1-27022935-GGC-G |
c.41_42del |
p.G14Efs*96 |
Frameshift |
1/20 |
- |
1 |
1-27022938-A-C |
c.44A>C |
p.N15T |
Missense |
1/20 |
- |
1 |
1-27022939-C-T |
c.45C>T |
p.N15= |
Synonymous |
1/20 |
- |
1 |
1-27022940-C-T |
c.46C>T |
p.P16S |
Missense |
1/20 |
- |
5 |
1-27022943-C-A |
c.49C>A |
p.P17T |
Missense |
1/20 |
- |
2 |
1-27022943-C-T |
c.49C>T |
p.P17S |
Missense |
1/20 |
- |
5 |
1-27022944-C-T |
c.50C>T |
p.P17L |
Missense |
1/20 |
- |
4 |
1-27022945-G-A |
c.51G>A |
p.P17= |
Synonymous |
1/20 |
- |
1 |
1-27022945-G-C |
c.51G>C |
p.P17= |
Synonymous |
1/20 |
- |
1 |
1-27022945-G-T |
c.51G>T |
p.P17= |
Synonymous |
1/20 |
- |
1 |
1-27022946-C-A |
c.52C>A |
p.P18T |
Missense |
1/20 |
- |
1 |
1-27022946-C-G |
c.52C>G |
p.P18A |
Missense |
1/20 |
- |
2 |
1-27022946-C-T |
c.52C>T |
p.P18S |
Missense |
1/20 |
- |
2 |
1-27022947-C-T |
c.53C>T |
p.P18L |
Missense |
1/20 |
- |
1 |
1-27022949-C-A |
c.55C>A |
p.P19T |
Missense |
1/20 |
- |
1 |
1-27022949-C-G |
c.55C>G |
p.P19A |
Missense |
1/20 |
- |
2 |
1-27022949-C-T |
c.55C>T |
p.P19S |
Missense |
1/20 |
- |
1 |
1-27022950-C-A |
c.56C>A |
p.P19Q |
Missense |
1/20 |
- |
2 |
1-27022950-C-G |
c.56C>G |
p.P19R |
Missense |
1/20 |
- |
1 |
1-27022950-CG-AT |
c.56_57delinsAT |
p.P19H |
Missense |
1/20 |
- |
1 |
1-27022950-C-T |
c.56C>T |
p.P19L |
Missense |
1/20 |
- |
2 |
1-27022951-G-A |
c.57G>A |
p.P19= |
Synonymous |
1/20 |
- |
2 |
1-27022951-GC-G |
c.59del |
p.P20Rfs*5 |
Frameshift |
1/20 |
- |
1 |
1-27022952-C-CCT |
c.59_60insTC |
p.P21Rfs*5 |
Frameshift |
1/20 |
- |
1 |
1-27022953-C-T |
c.59C>T |
p.P20L |
Missense |
1/20 |
- |
2 |
1-27022939-CCCG-C |
c.60_62del |
p.P21del |
InFrameDeletion |
1/20 |
- |
12 |
1-27022954-G-A |
c.60G>A |
p.P20= |
Synonymous |
1/20 |
- |
1 |
1-27022954-G-C |
c.60G>C |
p.P20= |
Synonymous |
1/20 |
- |
1 |
1-27022954-G-T |
c.60G>T |
p.P20= |
Synonymous |
1/20 |
- |
1 |
1-27022955-GCCC-G |
c.61_63del |
p.P21del |
InFrameDeletion |
1/20 |
- |
4 |
1-27022956-C-A |
c.62C>A |
p.P21H |
Missense |
1/20 |
- |
1 |
1-27022957-C-CCCT |
c.63_64insCCT |
p.P21dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27022957-C-CCCTCCT |
c.63_64insCCTCCT |
p.P20_P21dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27022958-TC-AG |
c.64_65delinsAG |
p.S22R |
Missense |
1/20 |
- |
1 |
1-27022958-TCG-GAC |
c.64_66delinsGAC |
p.S22D |
Missense |
1/20 |
- |
1 |
1-27022958-T-G |
c.64T>G |
p.S22A |
Missense |
1/20 |
- |
2 |
1-27022959-C-A |
c.65C>A |
p.S22* |
Nonsense |
1/20 |
- |
1 |
1-27022959-C-G |
c.65C>G |
p.S22W |
Missense |
1/20 |
- |
1 |
1-27022959-CG-GT |
c.65_66delinsGT |
p.S22C |
Missense |
1/20 |
- |
1 |
1-27022959-C-T |
c.65C>T |
p.S22L |
Missense |
1/20 |
- |
1 |
1-27022959-C-CG |
c.67dup |
p.E23Gfs*88 |
Frameshift |
1/20 |
- |
1 |
1-27022959-CG-C |
c.67del |
p.E23Sfs*2 |
Frameshift |
1/20 |
- |
1 |
1-27022962-A-T |
c.68A>T |
p.E23V |
Missense |
1/20 |
- |
1 |
1-27022963-G-C |
c.69G>C |
p.E23D |
Missense |
1/20 |
- |
1 |
1-27022963-G-T |
c.69G>T |
p.E23D |
Missense |
1/20 |
- |
1 |
1-27022964-C-A |
c.70C>A |
p.L24M |
Missense |
1/20 |
- |
1 |
1-27022964-GC-G |
c.70del |
p.L24* |
Frameshift |
1/20 |
- |
1 |
1-27022965-T-C |
c.71T>C |
p.L24P |
Missense |
1/20 |
- |
1 |
1-27022964-C-T |
c.70C>T |
p.L24= |
Synonymous |
1/20 |
- |
1 |
1-27022966-G-A |
c.72G>A |
p.L24= |
Synonymous |
1/20 |
- |
1 |
1-27022966-G-C |
c.72G>C |
p.L24= |
Synonymous |
1/20 |
- |
1 |
1-27022966-G-T |
c.72G>T |
p.L24= |
Synonymous |
1/20 |
- |
1 |
1-27022966-GA-G |
c.74del |
p.K25Rfs*26 |
Frameshift |
1/20 |
- |
1 |
1-27022969-G-A |
c.75G>A |
p.K25= |
Synonymous |
1/20 |
- |
1 |
1-27022970-A-G |
c.76A>G |
p.K26E |
Missense |
1/20 |
- |
2 |
1-27022971-A-T |
c.77A>T |
p.K26I |
Missense |
1/20 |
- |
2 |
1-27022973-G-A |
c.79G>A |
p.A27T |
Missense |
1/20 |
- |
1 |
1-27022973-G-C |
c.79G>C |
p.A27P |
Missense |
1/20 |
- |
4 |
1-27022973-GCC-AAG |
c.79_81delinsAAG |
p.A27K |
Missense |
1/20 |
- |
2 |
1-27022973-GC-CG |
c.79_80delinsCG |
p.A27R |
Missense |
1/20 |
- |
4 |
1-27022973-GCC-TGG |
c.79_81delinsTGG |
p.A27W |
Missense |
1/20 |
- |
3 |
1-27022973-GC-TG |
c.79_80delinsTG |
p.A27C |
Missense |
1/20 |
- |
2 |
1-27022973-GC-TT |
c.79_80delinsTT |
p.A27F |
Missense |
1/20 |
- |
1 |
1-27022974-CC-AG |
c.80_81delinsAG |
p.A27E |
Missense |
1/20 |
- |
1 |
1-27022974-C-G |
c.80C>G |
p.A27G |
Missense |
1/20 |
- |
1 |
1-27022974-C-T |
c.80C>T |
p.A27V |
Missense |
1/20 |
- |
2 |
1-27022975-C-CT |
c.81_82insT |
p.E28* |
Nonsense |
1/20 |
- |
2 |
1-27022976-G-A |
c.82G>A |
p.E28K |
Missense |
1/20 |
- |
3 |
1-27022977-A-G |
c.83A>G |
p.E28G |
Missense |
1/20 |
- |
1 |
1-27022977-A-T |
c.83A>T |
p.E28V |
Missense |
1/20 |
- |
1 |
1-27022979-C-T |
c.85C>T |
p.Q29* |
Nonsense |
1/20 |
- |
4 |
1-27022981-G-T |
c.87G>T |
p.Q29H |
Missense |
1/20 |
- |
1 |
1-27022982-C-T |
c.88C>T |
p.Q30* |
Nonsense |
1/20 |
- |
2 |
1-27022983-A-G |
c.89A>G |
p.Q30R |
Missense |
1/20 |
- |
1 |
1-27022983-A-T |
c.89A>T |
p.Q30L |
Missense |
1/20 |
- |
1 |
1-27022983-CAG-C |
c.89_90del |
p.Q30Pfs*80 |
Frameshift |
1/20 |
- |
1 |
1-27022983-A-AG |
c.90dup |
p.Q31Afs*80 |
Frameshift |
1/20 |
- |
1 |
1-27022984-G-A |
c.90G>A |
p.Q30= |
Synonymous |
1/20 |
- |
2 |
1-27022984-G-C |
c.90G>C |
p.Q30H |
Missense |
1/20 |
- |
1 |
1-27022984-G-T |
c.90G>T |
p.Q30H |
Missense |
1/20 |
- |
1 |
1-27022985-C-T |
c.91C>T |
p.Q31* |
Nonsense |
1/20 |
- |
3 |
1-27022976-GAGC-G |
c.92_94del |
p.Q31del |
InFrameDeletion |
1/20 |
- |
2 |
1-27022986-A-C |
c.92A>C |
p.Q31P |
Missense |
1/20 |
- |
1 |
1-27022986-A-G |
c.92A>G |
p.Q31R |
Missense |
1/20 |
- |
2 |
1-27022987-G-A |
c.93G>A |
p.Q31= |
Synonymous |
1/20 |
- |
1 |
1-27022988-C-G |
c.94C>G |
p.R32G |
Missense |
1/20 |
- |
2 |
1-27022988-CGG-TGT |
c.94_96delinsTGT |
p.R32C |
Missense |
1/20 |
- |
1 |
1-27022988-GCGGGAGGAGGCGGGGGGCGAGGCGGCGGCGGCGGCAGCGGCCGAGCGCGGGGAAATGAA-G |
c.94_152del |
p.R32Gfs*59 |
Frameshift |
1/20 |
- |
1 |
1-27022989-G-A |
c.95G>A |
p.R32Q |
Missense |
1/20 |
- |
3 |
1-27022989-G-T |
c.95G>T |
p.R32L |
Missense |
1/20 |
- |
2 |
1-27022988-CGGGAG-C |
c.96_100del |
p.E33Gfs*76 |
Frameshift |
1/20 |
- |
1 |
1-27022992-A-C |
c.98A>C |
p.E33A |
Missense |
1/20 |
- |
1 |
1-27022993-G-GT |
c.99_100insT |
p.E34* |
Nonsense |
1/20 |
- |
1 |
1-27022994-G-A |
c.100G>A |
p.E34K |
Missense |
1/20 |
- |
1 |
1-27022994-GA-CT |
c.100_101delinsCT |
p.E34L |
Missense |
1/20 |
- |
1 |
1-27022994-G-T |
c.100G>T |
p.E34* |
Nonsense |
1/20 |
- |
1 |
1-27022995-A-G |
c.101A>G |
p.E34G |
Missense |
1/20 |
- |
1 |
1-27022995-A-T |
c.101A>T |
p.E34V |
Missense |
1/20 |
- |
1 |
1-27022995-GA-G |
c.101del |
p.E34Gfs*17 |
Frameshift |
1/20 |
- |
1 |
1-27022996-G-A |
c.102G>A |
p.E34= |
Synonymous |
1/20 |
- |
1 |
1-27022997-G-A |
c.103G>A |
p.A35T |
Missense |
1/20 |
- |
4 |
1-27022998-C-A |
c.104C>A |
p.A35E |
Missense |
1/20 |
- |
1 |
1-27022998-C-T |
c.104C>T |
p.A35V |
Missense |
1/20 |
- |
6 |
1-27023000-G-A |
c.106G>A |
p.G36R |
Missense |
1/20 |
- |
1 |
1-27023000-G-T |
c.106G>T |
p.G36W |
Missense |
1/20 |
- |
1 |
1-27023001-G-C |
c.107G>C |
p.G36A |
Missense |
1/20 |
- |
1 |
1-27023003-G-A |
c.109G>A |
p.G37S |
Missense |
1/20 |
- |
2 |
1-27023003-GG-AC |
c.109_110delinsAC |
p.G37T |
Missense |
1/20 |
- |
2 |
1-27023003-G-T |
c.109G>T |
p.G37C |
Missense |
1/20 |
- |
1 |
1-27022998-C-CG |
c.110dup |
p.E38Rfs*73 |
Frameshift |
1/20 |
- |
2 |
1-27022998-CG-C |
c.110del |
p.G37Afs*14 |
Frameshift |
1/20 |
- |
3 |
1-27023004-G-A |
c.110G>A |
p.G37D |
Missense |
1/20 |
- |
2 |
1-27023004-G-T |
c.110G>T |
p.G37V |
Missense |
1/20 |
- |
1 |
1-27023005-C-CA |
c.111_112insA |
p.E38Rfs*73 |
Frameshift |
1/20 |
- |
1 |
1-27023006-G-A |
c.112G>A |
p.E38K |
Missense |
1/20 |
- |
6 |
1-27023006-G-C |
c.112G>C |
p.E38Q |
Missense |
1/20 |
- |
1 |
1-27023006-G-T |
c.112G>T |
p.E38* |
Nonsense |
1/20 |
- |
3 |
1-27023007-A-C |
c.113A>C |
p.E38A |
Missense |
1/20 |
- |
1 |
1-27023007-A-G |
c.113A>G |
p.E38G |
Missense |
1/20 |
- |
1 |
1-27023008-G-GGGC |
c.115_116insGCG |
p.E38_A39insG |
InFrameInsertion |
1/20 |
- |
1 |
1-27023009-G-A |
c.115G>A |
p.A39T |
Missense |
1/20 |
- |
3 |
1-27023009-G-C |
c.115G>C |
p.A39P |
Missense |
1/20 |
- |
3 |
1-27023009-GC-AG |
c.115_116delinsAG |
p.A39R |
Missense |
1/20 |
- |
1 |
1-27023009-GC-TG |
c.115_116delinsTG |
p.A39W |
Missense |
1/20 |
- |
2 |
1-27023010-C-A |
c.116C>A |
p.A39E |
Missense |
1/20 |
- |
3 |
1-27023010-C-CTGCT |
c.116_117insTGCT |
p.A41Gfs*71 |
Frameshift |
1/20 |
- |
1 |
1-27023010-C-T |
c.116C>T |
p.A39V |
Missense |
1/20 |
- |
2 |
1-27023011-G-A |
c.117G>A |
p.A39= |
Synonymous |
1/20 |
- |
1 |
1-27023011-G-C |
c.117G>C |
p.A39= |
Synonymous |
1/20 |
- |
1 |
1-27023011-G-T |
c.117G>T |
p.A39= |
Synonymous |
1/20 |
- |
1 |
1-27023012-GC-AG |
c.118_119delinsAG |
p.A40R |
Missense |
1/20 |
- |
1 |
1-27023012-GCG-TAT |
c.118_120delinsTAT |
p.A40Y |
Missense |
1/20 |
- |
1 |
1-27023012-GCG-TTT |
c.118_120delinsTTT |
p.A40F |
Missense |
1/20 |
- |
1 |
1-27023012-GC-TG |
c.118_119delinsTG |
p.A40W |
Missense |
1/20 |
- |
2 |
1-27023012-G-T |
c.118G>T |
p.A40S |
Missense |
1/20 |
- |
3 |
1-27023013-C-G |
c.119C>G |
p.A40G |
Missense |
1/20 |
- |
1 |
1-27023013-CG-AC |
c.119_120delinsAC |
p.A40D |
Missense |
1/20 |
- |
1 |
1-27023013-C-T |
c.119C>T |
p.A40V |
Missense |
1/20 |
- |
1 |
1-27023015-G-C |
c.121G>C |
p.A41P |
Missense |
1/20 |
- |
2 |
1-27023015-GC-AA |
c.121_122delinsAA |
p.A41K |
Missense |
1/20 |
- |
1 |
1-27023015-GC-AG |
c.121_122delinsAG |
p.A41R |
Missense |
1/20 |
- |
1 |
1-27023015-GC-CA |
c.121_122delinsCA |
p.A41Q |
Missense |
1/20 |
- |
3 |
1-27023015-GCG-AAC |
c.121_123delinsAAC |
p.A41N |
Missense |
1/20 |
- |
3 |
1-27023015-GCG-ATC |
c.121_123delinsATC |
p.A41I |
Missense |
1/20 |
- |
1 |
1-27023015-GCG-TGT |
c.121_123delinsTGT |
p.A41C |
Missense |
1/20 |
- |
1 |
1-27023015-GCG-TTT |
c.121_123delinsTTT |
p.A41F |
Missense |
1/20 |
- |
2 |
1-27023015-G-T |
c.121G>T |
p.A41S |
Missense |
1/20 |
- |
2 |
1-27023016-C-G |
c.122C>G |
p.A41G |
Missense |
1/20 |
- |
1 |
1-27023016-C-T |
c.122C>T |
p.A41V |
Missense |
1/20 |
- |
9 |
1-27023017-G-A |
c.123G>A |
p.A41= |
Synonymous |
1/20 |
- |
1 |
1-27023017-G-C |
c.123G>C |
p.A41= |
Synonymous |
1/20 |
- |
1 |
1-27023017-G-T |
c.123G>T |
p.A41= |
Synonymous |
1/20 |
- |
1 |
1-27023018-G-A |
c.124G>A |
p.A42T |
Missense |
1/20 |
- |
3 |
1-27023018-G-C |
c.124G>C |
p.A42P |
Missense |
1/20 |
- |
5 |
1-27023018-GC-AG |
c.124_125delinsAG |
p.A42R |
Missense |
1/20 |
- |
4 |
1-27023018-GC-CA |
c.124_125delinsCA |
p.A42Q |
Missense |
1/20 |
- |
1 |
1-27023018-GCG-TAT |
c.124_126delinsTAT |
p.A42Y |
Missense |
1/20 |
- |
2 |
1-27023018-GCG-TGT |
c.124_126delinsTGT |
p.A42C |
Missense |
1/20 |
- |
1 |
1-27023018-GCG-TTT |
c.124_126delinsTTT |
p.A42F |
Missense |
1/20 |
- |
2 |
1-27023018-GC-TA |
c.124_125delinsTA |
p.A42* |
Nonsense |
1/20 |
- |
1 |
1-27023019-C-A |
c.125C>A |
p.A42E |
Missense |
1/20 |
- |
5 |
1-27023019-C-T |
c.125C>T |
p.A42V |
Missense |
1/20 |
- |
1 |
1-27023007-AGGC-A |
c.126_128del |
p.A45del |
InFrameDeletion |
1/20 |
- |
5 |
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-AAC |
c.127_129delinsAAC |
p.A43N |
Missense |
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 |
- |
2 |
1-27023023-A-C |
c.129A>C |
p.A43= |
Synonymous |
1/20 |
- |
1 |
1-27023023-A-G |
c.129A>G |
p.A43= |
Synonymous |
1/20 |
- |
1 |
1-27023023-A-T |
c.129A>T |
p.A43= |
Synonymous |
1/20 |
- |
1 |
1-27023024-G-A |
c.130G>A |
p.A44T |
Missense |
1/20 |
- |
4 |
1-27023024-GCG-AAC |
c.130_132delinsAAC |
p.A44N |
Missense |
1/20 |
- |
1 |
1-27023024-GCG-CAT |
c.130_132delinsCAT |
p.A44H |
Missense |
1/20 |
- |
1 |
1-27023024-G-T |
c.130G>T |
p.A44S |
Missense |
1/20 |
- |
2 |
1-27023025-C-G |
c.131C>G |
p.A44G |
Missense |
1/20 |
- |
1 |
1-27023025-CG-AC |
c.131_132delinsAC |
p.A44D |
Missense |
1/20 |
- |
1 |
1-27023025-C-T |
c.131C>T |
p.A44V |
Missense |
1/20 |
- |
2 |
1-27023026-G-C |
c.132G>C |
p.A44= |
Synonymous |
1/20 |
- |
1 |
1-27023027-G-A |
c.133G>A |
p.A45T |
Missense |
1/20 |
- |
2 |
1-27023027-GC-AA |
c.133_134delinsAA |
p.A45N |
Missense |
1/20 |
- |
1 |
1-27023027-GC-CG |
c.133_134delinsCG |
p.A45R |
Missense |
1/20 |
- |
1 |
1-27023027-GC-TG |
c.133_134delinsTG |
p.A45C |
Missense |
1/20 |
- |
1 |
1-27023026-GGCC-G |
c.134_136del |
p.A45del |
InFrameDeletion |
1/20 |
- |
2 |
1-27023028-C-A |
c.134C>A |
p.A45D |
Missense |
1/20 |
- |
1 |
1-27023028-CC-AG |
c.134_135delinsAG |
p.A45E |
Missense |
1/20 |
- |
1 |
1-27023028-C-G |
c.134C>G |
p.A45G |
Missense |
1/20 |
- |
1 |
1-27023028-C-T |
c.134C>T |
p.A45V |
Missense |
1/20 |
- |
5 |
1-27023029-C-A |
c.135C>A |
p.A45= |
Synonymous |
1/20 |
- |
1 |
1-27023029-C-G |
c.135C>G |
p.A45= |
Synonymous |
1/20 |
- |
1 |
1-27023029-C-T |
c.135C>T |
p.A45= |
Synonymous |
1/20 |
- |
1 |
1-27023030-G-C |
c.136G>C |
p.E46Q |
Missense |
1/20 |
- |
1 |
1-27023030-G-GA |
c.137dup |
p.R47Afs*64 |
Frameshift |
1/20 |
- |
1 |
1-27023031-A-C |
c.137A>C |
p.E46A |
Missense |
1/20 |
- |
1 |
1-27023031-A-T |
c.137A>T |
p.E46V |
Missense |
1/20 |
- |
1 |
1-27023032-G-A |
c.138G>A |
p.E46= |
Synonymous |
1/20 |
- |
1 |
1-27023033-C-G |
c.139C>G |
p.R47G |
Missense |
1/20 |
- |
1 |
1-27023033-CGC-TGA |
c.139_141delinsTGA |
p.R47* |
Nonsense |
1/20 |
- |
1 |
1-27023033-CGC-TGG |
c.139_141delinsTGG |
p.R47W |
Missense |
1/20 |
- |
1 |
1-27023033-C-T |
c.139C>T |
p.R47C |
Missense |
1/20 |
- |
2 |
1-27023034-G-A |
c.140G>A |
p.R47H |
Missense |
1/20 |
- |
3 |
1-27023037-G-T |
c.143G>T |
p.G48V |
Missense |
1/20 |
- |
1 |
1-27023038-G-T |
c.144G>T |
p.G48= |
Synonymous |
1/20 |
- |
1 |
1-27023041-A-C |
c.147A>C |
p.E49D |
Missense |
1/20 |
- |
2 |
1-27023041-A-G |
c.147A>G |
p.E49= |
Synonymous |
1/20 |
- |
1 |
1-27023041-A-T |
c.147A>T |
p.E49D |
Missense |
1/20 |
- |
2 |
1-27023042-A-G |
c.148A>G |
p.M50V |
Missense |
1/20 |
- |
5 |
1-27023042-A-T |
c.148A>T |
p.M50L |
Missense |
1/20 |
- |
1 |
1-27023043-T-G |
c.149T>G |
p.M50R |
Missense |
1/20 |
- |
1 |
1-27023043-T-TGCA |
c.150_151insCAG |
p.M50_K51insQ |
InFrameInsertion |
1/20 |
- |
1 |
1-27023043-T-TGCAGCAGCA |
c.150_151insCAGCAGCAG |
p.M50_K51insQQQ |
InFrameInsertion |
1/20 |
- |
1 |
1-27023044-G-C |
c.150G>C |
p.M50I |
Missense |
1/20 |
- |
1 |
1-27023044-TG-T |
c.150del |
p.M50Ifs*51 |
Frameshift |
1/20 |
- |
1 |
1-27023047-G-C |
c.153G>C |
p.K51N |
Missense |
1/20 |
- |
2 |
1-27023048-G-A |
c.154G>A |
p.A52T |
Missense |
1/20 |
- |
2 |
1-27023048-GCA-TGT |
c.154_156delinsTGT |
p.A52C |
Missense |
1/20 |
- |
1 |
1-27023048-GCA-TTT |
c.154_156delinsTTT |
p.A52F |
Missense |
1/20 |
- |
1 |
1-27023049-CA-AC |
c.155_156delinsAC |
p.A52D |
Missense |
1/20 |
- |
3 |
1-27023049-C-G |
c.155C>G |
p.A52G |
Missense |
1/20 |
- |
1 |
1-27023049-C-T |
c.155C>T |
p.A52V |
Missense |
1/20 |
- |
3 |
1-27023050-A-G |
c.156A>G |
p.A52= |
Synonymous |
1/20 |
- |
2 |
1-27023051-G-A |
c.157G>A |
p.A53T |
Missense |
1/20 |
- |
1 |
1-27023051-GC-TT |
c.157_158delinsTT |
p.A53F |
Missense |
1/20 |
- |
1 |
1-27023051-G-T |
c.157G>T |
p.A53S |
Missense |
1/20 |
- |
1 |
1-27023052-CC-AG |
c.158_159delinsAG |
p.A53E |
Missense |
1/20 |
- |
1 |
1-27023052-C-T |
c.158C>T |
p.A53V |
Missense |
1/20 |
- |
1 |
1-27023054-G-A |
c.160G>A |
p.A54T |
Missense |
1/20 |
- |
1 |
1-27023054-GC-AA |
c.160_161delinsAA |
p.A54N |
Missense |
1/20 |
- |
1 |
1-27023054-GC-AT |
c.160_161delinsAT |
p.A54I |
Missense |
1/20 |
- |
1 |
1-27023054-GC-CA |
c.160_161delinsCA |
p.A54H |
Missense |
1/20 |
- |
1 |
1-27023054-GCC-AAG |
c.160_162delinsAAG |
p.A54K |
Missense |
1/20 |
- |
1 |
1-27023054-GC-CG |
c.160_161delinsCG |
p.A54R |
Missense |
1/20 |
- |
6 |
1-27023054-GC-CT |
c.160_161delinsCT |
p.A54L |
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 |
- |
2 |
1-27023054-GC-TT |
c.160_161delinsTT |
p.A54F |
Missense |
1/20 |
- |
1 |
1-27023054-G-T |
c.160G>T |
p.A54S |
Missense |
1/20 |
- |
1 |
1-27023055-CC-AG |
c.161_162delinsAG |
p.A54E |
Missense |
1/20 |
- |
1 |
1-27023055-C-G |
c.161C>G |
p.A54G |
Missense |
1/20 |
- |
2 |
1-27023055-C-T |
c.161C>T |
p.A54V |
Missense |
1/20 |
- |
2 |
1-27023056-C-A |
c.162C>A |
p.A54= |
Synonymous |
1/20 |
- |
1 |
1-27023056-C-G |
c.162C>G |
p.A54= |
Synonymous |
1/20 |
- |
1 |
1-27023056-C-T |
c.162C>T |
p.A54= |
Synonymous |
1/20 |
- |
1 |
1-27023057-G-A |
c.163G>A |
p.G55R |
Missense |
1/20 |
- |
1 |
1-27023057-GGG-AGC |
c.163_165delinsAGC |
p.G55S |
Missense |
1/20 |
- |
1 |
1-27023058-G-A |
c.164G>A |
p.G55E |
Missense |
1/20 |
- |
1 |
1-27023058-G-C |
c.164G>C |
p.G55A |
Missense |
1/20 |
- |
1 |
1-27023058-G-T |
c.164G>T |
p.G55V |
Missense |
1/20 |
- |
1 |
1-27023060-C-G |
c.166C>G |
p.Q56E |
Missense |
1/20 |
- |
1 |
1-27023060-C-T |
c.166C>T |
p.Q56* |
Nonsense |
1/20 |
- |
4 |
1-27023060-GC-G |
c.166del |
p.Q56Rfs*45 |
Frameshift |
1/20 |
- |
1 |
1-27023061-A-C |
c.167A>C |
p.Q56P |
Missense |
1/20 |
- |
2 |
1-27023062-G-C |
c.168G>C |
p.Q56H |
Missense |
1/20 |
- |
2 |
1-27023062-G-T |
c.168G>T |
p.Q56H |
Missense |
1/20 |
- |
1 |
1-27023063-G-A |
c.169G>A |
p.E57K |
Missense |
1/20 |
- |
2 |
1-27023063-G-T |
c.169G>T |
p.E57* |
Nonsense |
1/20 |
- |
2 |
1-27023063-G-GAGCAGC |
c.170_171insGCAGCA |
p.E57_S58insQQ |
InFrameInsertion |
1/20 |
- |
1 |
1-27023063-G-GAGCAGCAGC |
c.170_171insGCAGCAGCA |
p.E57_S58insQQQ |
InFrameInsertion |
1/20 |
- |
1 |
1-27023064-A-C |
c.170A>C |
p.E57A |
Missense |
1/20 |
- |
2 |
1-27023064-A-G |
c.170A>G |
p.E57G |
Missense |
1/20 |
- |
1 |
1-27023065-A-G |
c.171A>G |
p.E57= |
Synonymous |
1/20 |
- |
2 |
1-27023066-AGC-TGG |
c.172_174delinsTGG |
p.S58W |
Missense |
1/20 |
- |
1 |
1-27023067-G-C |
c.173G>C |
p.S58T |
Missense |
1/20 |
- |
1 |
1-27023066-AGC-A |
c.174_175del |
p.S58Rfs*52 |
Frameshift |
1/20 |
- |
1 |
1-27023067-GCGAGGGC-G |
c.175_181del |
p.E59Pfs*40 |
Frameshift |
1/20 |
- |
1 |
1-27023069-G-A |
c.175G>A |
p.E59K |
Missense |
1/20 |
- |
2 |
1-27023069-G-T |
c.175G>T |
p.E59* |
Nonsense |
1/20 |
- |
2 |
1-27023070-GAGGGCCC-G |
c.176_182del |
p.E59Afs*40 |
Frameshift |
1/20 |
- |
1 |
1-27023071-AGGGC-A |
c.177_180del |
p.E59Dfs*41 |
Frameshift |
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 |
1-27023072-GGCCCCGCCGT-G |
c.180_189del |
p.P61Gfs*37 |
Frameshift |
1/20 |
- |
1 |
1-27023074-C-A |
c.180C>A |
p.G60= |
Synonymous |
1/20 |
- |
1 |
1-27023078-G-A |
c.184G>A |
p.A62T |
Missense |
1/20 |
- |
4 |
1-27023078-G-C |
c.184G>C |
p.A62P |
Missense |
1/20 |
- |
3 |
1-27023078-GC-AA |
c.184_185delinsAA |
p.A62N |
Missense |
1/20 |
- |
1 |
1-27023078-GC-TA |
c.184_185delinsTA |
p.A62Y |
Missense |
1/20 |
- |
1 |
1-27023078-GC-TG |
c.184_185delinsTG |
p.A62C |
Missense |
1/20 |
- |
1 |
1-27023075-CCCG-C |
c.185_187del |
p.A62del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023079-C-A |
c.185C>A |
p.A62D |
Missense |
1/20 |
- |
1 |
1-27023079-CC-AG |
c.185_186delinsAG |
p.A62E |
Missense |
1/20 |
- |
1 |
1-27023079-C-T |
c.185C>T |
p.A62V |
Missense |
1/20 |
- |
2 |
1-27023075-CCCGCCGTGGGGCCG-C |
c.186_199del |
p.V63Afs*43 |
Frameshift |
1/20 |
- |
1 |
1-27023080-C-A |
c.186C>A |
p.A62= |
Synonymous |
1/20 |
- |
2 |
1-27023080-C-G |
c.186C>G |
p.A62= |
Synonymous |
1/20 |
- |
2 |
1-27023080-C-T |
c.186C>T |
p.A62= |
Synonymous |
1/20 |
- |
2 |
1-27023081-G-A |
c.187G>A |
p.V63M |
Missense |
1/20 |
- |
3 |
1-27023081-G-T |
c.187G>T |
p.V63L |
Missense |
1/20 |
- |
1 |
1-27023084-G-A |
c.190G>A |
p.G64R |
Missense |
1/20 |
- |
1 |
1-27023084-G-C |
c.190G>C |
p.G64R |
Missense |
1/20 |
- |
1 |
1-27023084-G-T |
c.190G>T |
p.G64W |
Missense |
1/20 |
- |
2 |
1-27023085-G-C |
c.191G>C |
p.G64A |
Missense |
1/20 |
- |
1 |
1-27023087-C-G |
c.193C>G |
p.P65A |
Missense |
1/20 |
- |
2 |
1-27023086-GC-G |
c.194del |
p.P65Rfs*36 |
Frameshift |
1/20 |
- |
1 |
1-27023088-C-T |
c.194C>T |
p.P65L |
Missense |
1/20 |
- |
1 |
1-27023089-G-A |
c.195G>A |
p.P65= |
Synonymous |
1/20 |
- |
2 |
1-27023089-G-C |
c.195G>C |
p.P65= |
Synonymous |
1/20 |
- |
2 |
1-27023089-G-T |
c.195G>T |
p.P65= |
Synonymous |
1/20 |
- |
2 |
1-27023090-C-G |
c.196C>G |
p.P66A |
Missense |
1/20 |
- |
1 |
1-27023090-C-T |
c.196C>T |
p.P66S |
Missense |
1/20 |
- |
3 |
1-27023091-C-T |
c.197C>T |
p.P66L |
Missense |
1/20 |
- |
2 |
1-27023092-G-A |
c.198G>A |
p.P66= |
Synonymous |
1/20 |
- |
1 |
1-27023092-G-C |
c.198G>C |
p.P66= |
Synonymous |
1/20 |
- |
1 |
1-27023092-G-T |
c.198G>T |
p.P66= |
Synonymous |
1/20 |
- |
2 |
1-27023093-C-T |
c.199C>T |
p.Q67* |
Nonsense |
1/20 |
- |
3 |
1-27023094-A-C |
c.200A>C |
p.Q67P |
Missense |
1/20 |
- |
3 |
1-27023094-A-G |
c.200A>G |
p.Q67R |
Missense |
1/20 |
- |
1 |
1-27023094-A-T |
c.200A>T |
p.Q67L |
Missense |
1/20 |
- |
1 |
1-27023095-G-A |
c.201G>A |
p.Q67= |
Synonymous |
1/20 |
- |
1 |
1-27023096-C-A |
c.202C>A |
p.P68T |
Missense |
1/20 |
- |
1 |
1-27023096-C-T |
c.202C>T |
p.P68S |
Missense |
1/20 |
- |
1 |
1-27023096-GCC-G |
c.202_203del |
p.P68Afs*42 |
Frameshift |
1/20 |
- |
1 |
1-27023097-C-A |
c.203C>A |
p.P68Q |
Missense |
1/20 |
- |
1 |
1-27023097-C-T |
c.203C>T |
p.P68L |
Missense |
1/20 |
- |
3 |
1-27023098-G-A |
c.204G>A |
p.P68= |
Synonymous |
1/20 |
- |
2 |
1-27023098-G-C |
c.204G>C |
p.P68= |
Synonymous |
1/20 |
- |
1 |
1-27023098-G-T |
c.204G>T |
p.P68= |
Synonymous |
1/20 |
- |
1 |
1-27023100-T-A |
c.206T>A |
p.L69Q |
Missense |
1/20 |
- |
1 |
1-27023100-T-G |
c.206T>G |
p.L69R |
Missense |
1/20 |
- |
2 |
1-27023099-C-T |
c.205C>T |
p.L69= |
Synonymous |
1/20 |
- |
3 |
1-27023101-G-A |
c.207G>A |
p.L69= |
Synonymous |
1/20 |
- |
3 |
1-27023101-G-C |
c.207G>C |
p.L69= |
Synonymous |
1/20 |
- |
3 |
1-27023101-G-T |
c.207G>T |
p.L69= |
Synonymous |
1/20 |
- |
3 |
1-27023102-G-A |
c.208G>A |
p.G70R |
Missense |
1/20 |
- |
1 |
1-27023102-GGA-AGC |
c.208_210delinsAGC |
p.G70S |
Missense |
1/20 |
- |
1 |
1-27023102-G-T |
c.208G>T |
p.G70* |
Nonsense |
1/20 |
- |
2 |
1-27023100-TG-T |
c.209del |
p.G70Efs*31 |
Frameshift |
1/20 |
- |
1 |
1-27023103-G-A |
c.209G>A |
p.G70E |
Missense |
1/20 |
- |
2 |
1-27023103-G-T |
c.209G>T |
p.G70V |
Missense |
1/20 |
- |
1 |
1-27023105-AAAG-A |
c.211_213del |
p.K71del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023105-A-C |
c.211A>C |
p.K71Q |
Missense |
1/20 |
- |
2 |
1-27023105-A-G |
c.211A>G |
p.K71E |
Missense |
1/20 |
- |
2 |
1-27023103-GA-G |
c.212del |
p.K71Rfs*30 |
Frameshift |
1/20 |
- |
1 |
1-27023106-A-G |
c.212A>G |
p.K71R |
Missense |
1/20 |
- |
1 |
1-27023107-G-C |
c.213G>C |
p.K71N |
Missense |
1/20 |
- |
2 |
1-27023107-G-T |
c.213G>T |
p.K71N |
Missense |
1/20 |
- |
1 |
1-27023108-G-A |
c.214G>A |
p.E72K |
Missense |
1/20 |
- |
3 |
1-27023108-GGAGC-G |
c.214_217del |
p.E72Cfs*28 |
Frameshift |
1/20 |
- |
1 |
1-27023108-G-T |
c.214G>T |
p.E72* |
Nonsense |
1/20 |
- |
2 |
1-27023109-A-C |
c.215A>C |
p.E72A |
Missense |
1/20 |
- |
1 |
1-27023109-A-G |
c.215A>G |
p.E72G |
Missense |
1/20 |
- |
3 |
1-27023110-AG-A |
c.216del |
p.E72Dfs*29 |
Frameshift |
1/20 |
- |
2 |
1-27023110-G-C |
c.216G>C |
p.E72D |
Missense |
1/20 |
- |
4 |
1-27023110-G-T |
c.216G>T |
p.E72D |
Missense |
1/20 |
- |
3 |
1-27023111-CT-GC |
c.217_218delinsGC |
p.L73A |
Missense |
1/20 |
- |
1 |
1-27023111-GC-G |
c.217del |
p.L73Cfs*28 |
Frameshift |
1/20 |
- |
1 |
1-27023112-T-C |
c.218T>C |
p.L73P |
Missense |
1/20 |
- |
1 |
1-27023114-C-T |
c.220C>T |
p.Q74* |
Nonsense |
1/20 |
- |
9 |
1-27023114-GCA-G |
c.220_221del |
p.Q74Gfs*36 |
Frameshift |
1/20 |
- |
1 |
1-27023115-A-G |
c.221A>G |
p.Q74R |
Missense |
1/20 |
- |
1 |
1-27023116-G-C |
c.222G>C |
p.Q74H |
Missense |
1/20 |
- |
1 |
1-27023116-G-T |
c.222G>T |
p.Q74H |
Missense |
1/20 |
- |
1 |
1-27023117-G-A |
c.223G>A |
p.D75N |
Missense |
1/20 |
- |
1 |
1-27023117-G-C |
c.223G>C |
p.D75H |
Missense |
1/20 |
- |
2 |
1-27023118-A-C |
c.224A>C |
p.D75A |
Missense |
1/20 |
- |
1 |
1-27023118-A-G |
c.224A>G |
p.D75G |
Missense |
1/20 |
- |
1 |
1-27023118-A-T |
c.224A>T |
p.D75V |
Missense |
1/20 |
- |
1 |
1-27023118-GA-G |
c.224del |
p.D75Afs*26 |
Frameshift |
1/20 |
- |
1 |
1-27023117-GACGGGGCCGAGAGCA-G |
c.225_239del |
p.A77_G81del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023119-C-G |
c.225C>G |
p.D75E |
Missense |
1/20 |
- |
1 |
1-27023120-G-A |
c.226G>A |
p.G76R |
Missense |
1/20 |
- |
1 |
1-27023121-G-A |
c.227G>A |
p.G76E |
Missense |
1/20 |
- |
2 |
1-27023121-G-T |
c.227G>T |
p.G76V |
Missense |
1/20 |
- |
2 |
1-27023123-G-C |
c.229G>C |
p.A77P |
Missense |
1/20 |
- |
2 |
1-27023123-GCC-CAA |
c.229_231delinsCAA |
p.A77Q |
Missense |
1/20 |
- |
1 |
1-27023123-GCC-TAA |
c.229_231delinsTAA |
p.A77* |
Nonsense |
1/20 |
- |
2 |
1-27023123-GCC-TGG |
c.229_231delinsTGG |
p.A77W |
Missense |
1/20 |
- |
1 |
1-27023123-GC-TG |
c.229_230delinsTG |
p.A77C |
Missense |
1/20 |
- |
1 |
1-27023123-G-T |
c.229G>T |
p.A77S |
Missense |
1/20 |
- |
1 |
1-27023124-CC-AG |
c.230_231delinsAG |
p.A77E |
Missense |
1/20 |
- |
4 |
1-27023124-C-G |
c.230C>G |
p.A77G |
Missense |
1/20 |
- |
3 |
1-27023124-C-T |
c.230C>T |
p.A77V |
Missense |
1/20 |
- |
2 |
1-27023126-G-A |
c.232G>A |
p.E78K |
Missense |
1/20 |
- |
3 |
1-27023126-G-T |
c.232G>T |
p.E78* |
Nonsense |
1/20 |
- |
6 |
1-27023129-AG-CT |
c.235_236inv |
p.S79L |
Missense |
1/20 |
- |
1 |
1-27023129-AG-GC |
c.235_236delinsGC |
p.S79A |
Missense |
1/20 |
- |
1 |
1-27023129-AG-TT |
c.235_236delinsTT |
p.S79F |
Missense |
1/20 |
- |
1 |
1-27023129-A-T |
c.235A>T |
p.S79C |
Missense |
1/20 |
- |
1 |
1-27023130-G-C |
c.236G>C |
p.S79T |
Missense |
1/20 |
- |
1 |
1-27023132-A-G |
c.238A>G |
p.N80D |
Missense |
1/20 |
- |
1 |
1-27023132-A-T |
c.238A>T |
p.N80Y |
Missense |
1/20 |
- |
1 |
1-27023133-A-C |
c.239A>C |
p.N80T |
Missense |
1/20 |
- |
1 |
1-27023133-A-G |
c.239A>G |
p.N80S |
Missense |
1/20 |
- |
3 |
1-27023134-T-C |
c.240T>C |
p.N80= |
Synonymous |
1/20 |
- |
1 |
1-27023135-G-A |
c.241G>A |
p.G81R |
Missense |
1/20 |
- |
2 |
1-27023135-GGG-AGC |
c.241_243delinsAGC |
p.G81S |
Missense |
1/20 |
- |
3 |
1-27023135-G-T |
c.241G>T |
p.G81W |
Missense |
1/20 |
- |
1 |
1-27023136-G-A |
c.242G>A |
p.G81E |
Missense |
1/20 |
- |
1 |
1-27023136-G-T |
c.242G>T |
p.G81V |
Missense |
1/20 |
- |
1 |
1-27023137-G-GC |
c.243_244insC |
p.G82Rfs*29 |
Frameshift |
1/20 |
- |
1 |
1-27023138-G-A |
c.244G>A |
p.G82S |
Missense |
1/20 |
- |
3 |
1-27023134-TG-T |
c.245del |
p.G82Vfs*19 |
Frameshift |
1/20 |
- |
1 |
1-27023134-T-TG |
c.245dup |
p.G83Wfs*28 |
Frameshift |
1/20 |
- |
1 |
1-27023139-G-A |
c.245G>A |
p.G82D |
Missense |
1/20 |
- |
4 |
1-27023139-G-C |
c.245G>C |
p.G82A |
Missense |
1/20 |
- |
1 |
1-27023139-G-T |
c.245G>T |
p.G82V |
Missense |
1/20 |
- |
1 |
1-27023137-GGGTGGC-G |
c.246_251del |
p.G86_G87del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023140-T-A |
c.246T>A |
p.G82= |
Synonymous |
1/20 |
- |
1 |
1-27023140-T-C |
c.246T>C |
p.G82= |
Synonymous |
1/20 |
- |
1 |
1-27023140-T-G |
c.246T>G |
p.G82= |
Synonymous |
1/20 |
- |
1 |
1-27023141-G-A |
c.247G>A |
p.G83S |
Missense |
1/20 |
- |
1 |
1-27023141-G-C |
c.247G>C |
p.G83R |
Missense |
1/20 |
- |
1 |
1-27023142-G-A |
c.248G>A |
p.G83D |
Missense |
1/20 |
- |
2 |
1-27023143-C-A |
c.249C>A |
p.G83= |
Synonymous |
1/20 |
- |
3 |
1-27023143-C-G |
c.249C>G |
p.G83= |
Synonymous |
1/20 |
- |
3 |
1-27023143-C-T |
c.249C>T |
p.G83= |
Synonymous |
1/20 |
- |
4 |
1-27023144-G-C |
c.250G>C |
p.G84R |
Missense |
1/20 |
- |
1 |
1-27023145-G-A |
c.251G>A |
p.G84D |
Missense |
1/20 |
- |
3 |
1-27023145-GC-AG |
c.251_252delinsAG |
p.G84E |
Missense |
1/20 |
- |
1 |
1-27023145-G-GC |
c.252dup |
p.G85Rfs*26 |
Frameshift |
1/20 |
- |
1 |
1-27023146-C-A |
c.252C>A |
p.G84= |
Synonymous |
1/20 |
- |
1 |
1-27023146-C-G |
c.252C>G |
p.G84= |
Synonymous |
1/20 |
- |
1 |
1-27023146-C-T |
c.252C>T |
p.G84= |
Synonymous |
1/20 |
- |
1 |
1-27023146-GCGGCGGCGGAGCCGGCAGCGGCGGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGA-G |
c.252_310del |
p.G85Rfs*6 |
Frameshift |
1/20 |
- |
1 |
1-27023148-G-A |
c.254G>A |
p.G85D |
Missense |
1/20 |
- |
1 |
1-27023151-G-A |
c.257G>A |
p.G86D |
Missense |
1/20 |
- |
1 |
1-27023151-G-T |
c.257G>T |
p.G86V |
Missense |
1/20 |
- |
1 |
1-27023140-TGGC-T |
c.258_260del |
p.G87del |
InFrameDeletion |
1/20 |
- |
4 |
1-27023141-GGCGGCGGCGGCGGAGCCGGCA-G |
c.258_278del |
p.G87_G93del |
InFrameDeletion |
1/20 |
- |
2 |
1-27023152-C-G |
c.258C>G |
p.G86= |
Synonymous |
1/20 |
- |
1 |
1-27023153-G-T |
c.259G>T |
p.G87* |
Nonsense |
1/20 |
- |
3 |
1-27023152-CGGA-C |
c.260_262del |
p.G87del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023154-G-A |
c.260G>A |
p.G87E |
Missense |
1/20 |
- |
2 |
1-27023144-GGCGGCGGCGGAGCCGGCA-G |
c.261_278del |
p.A88_G93del |
InFrameDeletion |
1/20 |
- |
3 |
1-27023156-AGCCGGCAGCGGCGGCGGG-A |
c.262_279del |
p.A88_G93del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023156-G-A |
c.262G>A |
p.A88T |
Missense |
1/20 |
- |
1 |
1-27023156-G-C |
c.262G>C |
p.A88P |
Missense |
1/20 |
- |
1 |
1-27023156-GCC-TGG |
c.262_264delinsTGG |
p.A88W |
Missense |
1/20 |
- |
1 |
1-27023156-GC-TA |
c.262_263delinsTA |
p.A88Y |
Missense |
1/20 |
- |
1 |
1-27023156-GC-TG |
c.262_263delinsTG |
p.A88C |
Missense |
1/20 |
- |
1 |
1-27023156-G-T |
c.262G>T |
p.A88S |
Missense |
1/20 |
- |
1 |
1-27023157-CC-AG |
c.263_264delinsAG |
p.A88E |
Missense |
1/20 |
- |
1 |
1-27023157-C-G |
c.263C>G |
p.A88G |
Missense |
1/20 |
- |
1 |
1-27023157-C-T |
c.263C>T |
p.A88V |
Missense |
1/20 |
- |
2 |
1-27023158-C-A |
c.264C>A |
p.A88= |
Synonymous |
1/20 |
- |
3 |
1-27023158-C-G |
c.264C>G |
p.A88= |
Synonymous |
1/20 |
- |
3 |
1-27023158-C-T |
c.264C>T |
p.A88= |
Synonymous |
1/20 |
- |
3 |
1-27023155-AGCCGGCAGCGGCGGCGG-A |
c.265_281del |
p.G89Rfs*16 |
Frameshift |
1/20 |
- |
1 |
1-27023159-G-A |
c.265G>A |
p.G89S |
Missense |
1/20 |
- |
1 |
1-27023159-G-C |
c.265G>C |
p.G89R |
Missense |
1/20 |
- |
1 |
1-27023160-G-A |
c.266G>A |
p.G89D |
Missense |
1/20 |
- |
3 |
1-27023160-G-T |
c.266G>T |
p.G89V |
Missense |
1/20 |
- |
1 |
1-27023156-GCCGGCAGCGGCGGCGGGC-G |
c.268_285del |
p.S90_G95del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023159-GGCAGCGGCGGCGGGCCCGGC-G |
c.268_287del |
p.S90Gfs*14 |
Frameshift |
1/20 |
- |
1 |
1-27023162-A-G |
c.268A>G |
p.S90G |
Missense |
1/20 |
- |
15 |
1-27023162-A-T |
c.268A>T |
p.S90C |
Missense |
1/20 |
- |
1 |
1-27023163-G-A |
c.269G>A |
p.S90N |
Missense |
1/20 |
- |
1 |
1-27023164-C-G |
c.270C>G |
p.S90R |
Missense |
1/20 |
- |
1 |
1-27023166-G-C |
c.272G>C |
p.G91A |
Missense |
1/20 |
- |
2 |
1-27023168-G-A |
c.274G>A |
p.G92S |
Missense |
1/20 |
- |
1 |
1-27023169-G-A |
c.275G>A |
p.G92D |
Missense |
1/20 |
- |
1 |
1-27023169-G-C |
c.275G>C |
p.G92A |
Missense |
1/20 |
- |
1 |
1-27023162-AGCG-A |
c.276_278del |
p.G93del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023171-CGGG-C |
c.277_279del |
p.G93del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023171-G-C |
c.277G>C |
p.G93R |
Missense |
1/20 |
- |
1 |
1-27023171-G-T |
c.277G>T |
p.G93W |
Missense |
1/20 |
- |
1 |
1-27023172-G-A |
c.278G>A |
p.G93E |
Missense |
1/20 |
- |
1 |
1-27023172-G-C |
c.278G>C |
p.G93A |
Missense |
1/20 |
- |
2 |
1-27023169-GCGGGCCCGGCGCGGAGC-G |
c.279_295del |
p.G95Efs*10 |
Frameshift |
1/20 |
- |
1 |
1-27023174-C-G |
c.280C>G |
p.P94A |
Missense |
1/20 |
- |
2 |
1-27023174-C-T |
c.280C>T |
p.P94S |
Missense |
1/20 |
- |
2 |
1-27023175-C-A |
c.281C>A |
p.P94H |
Missense |
1/20 |
- |
2 |
1-27023175-C-T |
c.281C>T |
p.P94L |
Missense |
1/20 |
- |
4 |
1-27023173-GCCCGGCGCGGAGCCGGA-G |
c.282_298del |
p.G95Efs*10 |
Frameshift |
1/20 |
- |
2 |
1-27023173-GC-G |
c.282del |
p.G95Afs*6 |
Frameshift |
1/20 |
- |
1 |
1-27023168-GGCGGGCCCGGCGCGGAGCCGGACCTGAAGAACTCGAACGGGAAC-G |
c.283_326del |
p.G95* |
Frameshift |
1/20 |
- |
1 |
1-27023177-G-A |
c.283G>A |
p.G95S |
Missense |
1/20 |
- |
1 |
1-27023177-GGC-TGA |
c.283_285delinsTGA |
p.G95* |
Nonsense |
1/20 |
- |
1 |
1-27023178-G-A |
c.284G>A |
p.G95D |
Missense |
1/20 |
- |
1 |
1-27023174-CCCGGCGCGGAG-C |
c.285_295del |
p.A96Pfs*11 |
Frameshift |
1/20 |
- |
1 |
1-27023179-C-A |
c.285C>A |
p.G95= |
Synonymous |
1/20 |
- |
1 |
1-27023179-C-G |
c.285C>G |
p.G95= |
Synonymous |
1/20 |
- |
1 |
1-27023179-C-T |
c.285C>T |
p.G95= |
Synonymous |
1/20 |
- |
1 |
1-27023180-G-A |
c.286G>A |
p.A96T |
Missense |
1/20 |
- |
1 |
1-27023180-G-T |
c.286G>T |
p.A96S |
Missense |
1/20 |
- |
1 |
1-27023181-C-A |
c.287C>A |
p.A96E |
Missense |
1/20 |
- |
1 |
1-27023182-G-GC |
c.288_289insC |
p.E97Rfs*14 |
Frameshift |
1/20 |
- |
1 |
1-27023183-G-A |
c.289G>A |
p.E97K |
Missense |
1/20 |
- |
1 |
1-27023183-G-T |
c.289G>T |
p.E97* |
Nonsense |
1/20 |
- |
1 |
1-27023184-A-G |
c.290A>G |
p.E97G |
Missense |
1/20 |
- |
2 |
1-27023184-A-T |
c.290A>T |
p.E97V |
Missense |
1/20 |
- |
1 |
1-27023185-G-A |
c.291G>A |
p.E97= |
Synonymous |
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 |
1-27023187-C-T |
c.293C>T |
p.P98L |
Missense |
1/20 |
- |
3 |
1-27023188-G-T |
c.294G>T |
p.P98= |
Synonymous |
1/20 |
- |
1 |
1-27023189-GA-TT |
c.295_296delinsTT |
p.D99F |
Missense |
1/20 |
- |
1 |
1-27023189-G-C |
c.295G>C |
p.D99H |
Missense |
1/20 |
- |
1 |
1-27023189-G-T |
c.295G>T |
p.D99Y |
Missense |
1/20 |
- |
2 |
1-27023190-A-G |
c.296A>G |
p.D99G |
Missense |
1/20 |
- |
1 |
1-27023192-C-T |
c.298C>T |
p.L100= |
Synonymous |
1/20 |
- |
3 |
1-27023192-CTG-ATC |
c.298_300delinsATC |
p.L100I |
Missense |
1/20 |
- |
1 |
1-27023193-T-A |
c.299T>A |
p.L100Q |
Missense |
1/20 |
- |
1 |
1-27023194-G-A |
c.300G>A |
p.L100= |
Synonymous |
1/20 |
- |
2 |
1-27023194-G-C |
c.300G>C |
p.L100= |
Synonymous |
1/20 |
- |
1 |
1-27023194-G-T |
c.300G>T |
p.L100= |
Synonymous |
1/20 |
- |
1 |
1-27023194-GA-G |
c.302del |
p.K101Rfs*13 |
Frameshift |
1/20 |
- |
1 |
1-27023197-G-A |
c.303G>A |
p.K101= |
Synonymous |
1/20 |
- |
1 |
1-27023197-G-C |
c.303G>C |
p.K101N |
Missense |
1/20 |
- |
1 |
1-27023197-G-T |
c.303G>T |
p.K101N |
Missense |
1/20 |
- |
1 |
1-27023199-A-G |
c.305A>G |
p.N102S |
Missense |
1/20 |
- |
1 |
1-27023199-A-T |
c.305A>T |
p.N102I |
Missense |
1/20 |
- |
1 |
1-27023200-AC-A |
c.306del |
p.S103Rfs*11 |
Frameshift |
1/20 |
- |
1 |
1-27023200-C-A |
c.306C>A |
p.N102K |
Missense |
1/20 |
- |
1 |
1-27023200-C-G |
c.306C>G |
p.N102K |
Missense |
1/20 |
- |
3 |
1-27023201-TC-AG |
c.307_308delinsAG |
p.S103R |
Missense |
1/20 |
- |
1 |
1-27023202-C-A |
c.308C>A |
p.S103* |
Nonsense |
1/20 |
- |
1 |
1-27023202-C-G |
c.308C>G |
p.S103W |
Missense |
1/20 |
- |
5 |
1-27023202-C-T |
c.308C>T |
p.S103L |
Missense |
1/20 |
- |
2 |
1-27023203-CG-C |
c.309del |
p.N104Tfs*10 |
Frameshift |
1/20 |
- |
1 |
1-27023205-A-C |
c.311A>C |
p.N104T |
Missense |
1/20 |
- |
1 |
1-27023205-A-G |
c.311A>G |
p.N104S |
Missense |
1/20 |
- |
2 |
1-27023206-C-A |
c.312C>A |
p.N104K |
Missense |
1/20 |
- |
1 |
1-27023206-C-G |
c.312C>G |
p.N104K |
Missense |
1/20 |
- |
2 |
1-27023206-C-T |
c.312C>T |
p.N104= |
Synonymous |
1/20 |
- |
2 |
1-27023207-G-A |
c.313G>A |
p.G105R |
Missense |
1/20 |
- |
3 |
1-27023207-G-C |
c.313G>C |
p.G105R |
Missense |
1/20 |
- |
3 |
1-27023208-G-A |
c.314G>A |
p.G105E |
Missense |
1/20 |
- |
2 |
1-27023208-G-T |
c.314G>T |
p.G105V |
Missense |
1/20 |
- |
3 |
1-27023206-CG-C |
c.315del |
p.N106Tfs*8 |
Frameshift |
1/20 |
- |
1 |
1-27023207-GGGAACGCGGGCCCTAGGCCC-G |
c.315_334del |
p.N106Pfs*4 |
Frameshift |
1/20 |
- |
1 |
1-27023209-G-GT |
c.315_316insT |
p.N106* |
Nonsense |
1/20 |
- |
1 |
1-27023208-GGAACGCGGGCCCTAGGCCC-G |
c.316_334del |
p.N106Pfs*2 |
Frameshift |
1/20 |
- |
1 |
1-27023210-AA-CC |
c.316_317delinsCC |
p.N106P |
Missense |
1/20 |
- |
1 |
1-27023210-AA-GC |
c.316_317delinsGC |
p.N106A |
Missense |
1/20 |
- |
1 |
1-27023210-A-G |
c.316A>G |
p.N106D |
Missense |
1/20 |
- |
1 |
1-27023209-G-GA |
c.317dup |
p.N106Kfs*5 |
Frameshift |
1/20 |
- |
2 |
1-27023211-A-C |
c.317A>C |
p.N106T |
Missense |
1/20 |
- |
1 |
1-27023211-A-G |
c.317A>G |
p.N106S |
Missense |
1/20 |
- |
1 |
1-27023210-AACGCGGGCCCT-A |
c.318_328del |
p.N106Kfs*7 |
Frameshift |
1/20 |
- |
1 |
1-27023212-C-T |
c.318C>T |
p.N106= |
Synonymous |
1/20 |
- |
2 |
1-27023212-C-CG |
c.319dup |
p.A107Gfs*4 |
Frameshift |
1/20 |
- |
1 |
1-27023213-CG-C |
c.319del |
p.A107Rfs*7 |
Frameshift |
1/20 |
- |
1 |
1-27023213-G-C |
c.319G>C |
p.A107P |
Missense |
1/20 |
- |
1 |
1-27023214-C-A |
c.320C>A |
p.A107E |
Missense |
1/20 |
- |
1 |
1-27023214-C-T |
c.320C>T |
p.A107V |
Missense |
1/20 |
- |
1 |
1-27023216-G-A |
c.322G>A |
p.G108S |
Missense |
1/20 |
- |
3 |
1-27023217-G-A |
c.323G>A |
p.G108D |
Missense |
1/20 |
- |
1 |
1-27023218-GCCCTA-G |
c.324_328del |
p.P109Afs*6 |
Frameshift |
1/20 |
- |
1 |
1-27023219-C-T |
c.325C>T |
p.P109S |
Missense |
1/20 |
- |
1 |
1-27023217-G-GC |
c.326dup |
p.R110* |
Nonsense |
1/20 |
- |
1 |
1-27023220-C-T |
c.326C>T |
p.P109L |
Missense |
1/20 |
- |
2 |
1-27023215-GGGCCCTA-G |
c.327_333del |
p.R110Pfs*2 |
Frameshift |
1/20 |
- |
1 |
1-27023216-GGCCCTAGGCCC-G |
c.328_338del |
p.R110Efs*3 |
Frameshift |
1/20 |
- |
1 |
1-27023222-AG-CC |
c.328_329delinsCC |
p.R110P |
Missense |
1/20 |
- |
1 |
1-27023222-AG-CT |
c.328_329inv |
p.R110L |
Missense |
1/20 |
- |
1 |
1-27023222-AGG-TGT |
c.328_330delinsTGT |
p.R110C |
Missense |
1/20 |
- |
1 |
1-27023222-AG-TA |
c.328_329delinsTA |
p.R110* |
Nonsense |
1/20 |
- |
1 |
1-27023222-A-T |
c.328A>T |
p.R110W |
Missense |
1/20 |
- |
1 |
1-27023223-G-A |
c.329G>A |
p.R110K |
Missense |
1/20 |
- |
1 |
1-27023223-G-C |
c.329G>C |
p.R110T |
Missense |
1/20 |
- |
1 |
1-27023223-G-T |
c.329G>T |
p.R110M |
Missense |
1/20 |
- |
2 |
1-27023222-A-C |
c.328A>C |
p.R110= |
Synonymous |
1/20 |
- |
2 |
1-27023224-G-A |
c.330G>A |
p.R110= |
Synonymous |
1/20 |
- |
2 |
1-27023224-GGC-G |
c.330_331del |
p.R110Sfs*6 |
Frameshift |
1/20 |
- |
1 |
1-27023225-C-T |
c.331C>T |
p.P111S |
Missense |
1/20 |
- |
1 |
1-27023226-C-A |
c.332C>A |
p.P111H |
Missense |
1/20 |
- |
1 |
1-27023226-C-G |
c.332C>G |
p.P111R |
Missense |
1/20 |
- |
1 |
1-27023226-C-T |
c.332C>T |
p.P111L |
Missense |
1/20 |
- |
2 |
1-27023227-C-A |
c.333C>A |
p.P111= |
Synonymous |
1/20 |
- |
1 |
1-27023227-C-G |
c.333C>G |
p.P111= |
Synonymous |
1/20 |
- |
1 |
1-27023227-C-T |
c.333C>T |
p.P111= |
Synonymous |
1/20 |
- |
1 |
1-27023225-CCCG-C |
c.334_336del |
p.A112del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023228-G-C |
c.334G>C |
p.A112P |
Missense |
1/20 |
- |
1 |
1-27023229-C-G |
c.335C>G |
p.A112G |
Missense |
1/20 |
- |
1 |
1-27023229-C-T |
c.335C>T |
p.A112V |
Missense |
1/20 |
- |
1 |
1-27023228-GC-G |
c.337del |
p.L113* |
Frameshift |
1/20 |
- |
1 |
1-27023231-C-A |
c.337C>A |
p.L113M |
Missense |
1/20 |
- |
1 |
1-27023232-T-A |
c.338T>A |
p.L113Q |
Missense |
1/20 |
- |
1 |
1-27023232-T-C |
c.338T>C |
p.L113P |
Missense |
1/20 |
- |
1 |
1-27023231-C-T |
c.337C>T |
p.L113= |
Synonymous |
1/20 |
- |
1 |
1-27023233-G-A |
c.339G>A |
p.L113= |
Synonymous |
1/20 |
- |
1 |
1-27023233-G-C |
c.339G>C |
p.L113= |
Synonymous |
1/20 |
- |
1 |
1-27023233-G-T |
c.339G>T |
p.L113= |
Synonymous |
1/20 |
- |
1 |
1-27023233-TG-T |
c.339del |
p.N114Tfs*118 |
Frameshift |
1/20 |
- |
1 |
1-27023235-A-C |
c.341A>C |
p.N114T |
Missense |
1/20 |
- |
1 |
1-27023235-A-G |
c.341A>G |
p.N114S |
Missense |
1/20 |
- |
2 |
1-27023236-C-CT |
c.342_343insT |
p.N115* |
Nonsense |
1/20 |
- |
1 |
1-27023237-A-C |
c.343A>C |
p.N115H |
Missense |
1/20 |
- |
1 |
1-27023237-A-G |
c.343A>G |
p.N115D |
Missense |
1/20 |
- |
1 |
1-27023238-A-G |
c.344A>G |
p.N115S |
Missense |
1/20 |
- |
1 |
1-27023238-ATAACC-A |
c.346_350del |
p.N116Hfs*282 |
Frameshift |
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 |
1-27023243-C-T |
c.349C>T |
p.L117F |
Missense |
1/20 |
- |
1 |
1-27023244-T-C |
c.350T>C |
p.L117P |
Missense |
1/20 |
- |
2 |
1-27023245-C-A |
c.351C>A |
p.L117= |
Synonymous |
1/20 |
- |
2 |
1-27023245-C-G |
c.351C>G |
p.L117= |
Synonymous |
1/20 |
- |
2 |
1-27023245-C-T |
c.351C>T |
p.L117= |
Synonymous |
1/20 |
- |
2 |
1-27023246-A-C |
c.352A>C |
p.T118P |
Missense |
1/20 |
- |
13 |
1-27023246-A-G |
c.352A>G |
p.T118A |
Missense |
1/20 |
- |
1 |
1-27023246-A-T |
c.352A>T |
p.T118S |
Missense |
1/20 |
- |
1 |
1-27023246-CA-C |
c.352del |
p.T118Rfs*114 |
Frameshift |
1/20 |
- |
2 |
1-27023246-CACGGAGCCGCCCGGCGGCG-C |
c.352_370del |
p.T118Afs*108 |
Frameshift |
1/20 |
- |
1 |
1-27023249-G-A |
c.355G>A |
p.E119K |
Missense |
1/20 |
- |
1 |
1-27023249-G-C |
c.355G>C |
p.E119Q |
Missense |
1/20 |
- |
1 |
1-27023249-G-T |
c.355G>T |
p.E119* |
Nonsense |
1/20 |
- |
2 |
1-27023250-A-C |
c.356A>C |
p.E119A |
Missense |
1/20 |
- |
1 |
1-27023252-C-T |
c.358C>T |
p.P120S |
Missense |
1/20 |
- |
10 |
1-27023250-AGCCGCCCGGCGGCGGCGGTG-A |
c.359_378del |
p.P120Rfs*273 |
Frameshift |
1/20 |
- |
1 |
1-27023253-C-A |
c.359C>A |
p.P120Q |
Missense |
1/20 |
- |
2 |
1-27023253-C-G |
c.359C>G |
p.P120R |
Missense |
1/20 |
- |
2 |
1-27023253-C-T |
c.359C>T |
p.P120L |
Missense |
1/20 |
- |
2 |
1-27023252-CCG-C |
c.360_361del |
p.P121Rfs*278 |
Frameshift |
1/20 |
- |
1 |
1-27023255-C-T |
c.361C>T |
p.P121S |
Missense |
1/20 |
- |
1 |
1-27023256-C-T |
c.362C>T |
p.P121L |
Missense |
1/20 |
- |
1 |
1-27023258-G-T |
c.364G>T |
p.G122C |
Missense |
1/20 |
- |
2 |
1-27023259-G-T |
c.365G>T |
p.G122V |
Missense |
1/20 |
- |
1 |
1-27023261-G-A |
c.367G>A |
p.G123S |
Missense |
1/20 |
- |
3 |
1-27023261-G-C |
c.367G>C |
p.G123R |
Missense |
1/20 |
- |
1 |
1-27023261-G-T |
c.367G>T |
p.G123C |
Missense |
1/20 |
- |
1 |
1-27023260-CG-C |
c.368del |
p.G123Afs*109 |
Frameshift |
1/20 |
- |
1 |
1-27023262-G-T |
c.368G>T |
p.G123V |
Missense |
1/20 |
- |
1 |
1-27023264-G-A |
c.370G>A |
p.G124S |
Missense |
1/20 |
- |
1 |
1-27023264-G-C |
c.370G>C |
p.G124R |
Missense |
1/20 |
- |
2 |
1-27023265-G-A |
c.371G>A |
p.G124D |
Missense |
1/20 |
- |
1 |
1-27023265-G-C |
c.371G>C |
p.G124A |
Missense |
1/20 |
- |
2 |
1-27023256-C-CCGG |
c.372_374dup |
p.G127dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27023256-CCGG-C |
c.372_374del |
p.G127del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023267-G-A |
c.373G>A |
p.G125S |
Missense |
1/20 |
- |
2 |
1-27023267-G-C |
c.373G>C |
p.G125R |
Missense |
1/20 |
- |
2 |
1-27023266-CG-C |
c.374del |
p.G125Vfs*107 |
Frameshift |
1/20 |
- |
1 |
1-27023270-G-A |
c.376G>A |
p.G126S |
Missense |
1/20 |
- |
2 |
1-27023271-G-A |
c.377G>A |
p.G126D |
Missense |
1/20 |
- |
2 |
1-27023274-G-A |
c.380G>A |
p.G127D |
Missense |
1/20 |
- |
2 |
1-27023276-A-G |
c.382A>G |
p.S128G |
Missense |
1/20 |
- |
1 |
1-27023276-AG-TT |
c.382_383delinsTT |
p.S128F |
Missense |
1/20 |
- |
2 |
1-27023276-A-C |
c.382A>C |
p.S128R |
Missense |
1/20 |
- |
1 |
1-27023278-C-A |
c.384C>A |
p.S128R |
Missense |
1/20 |
- |
1 |
1-27023278-C-CT |
c.384_385insT |
p.S129* |
Nonsense |
1/20 |
- |
1 |
1-27023278-C-G |
c.384C>G |
p.S128R |
Missense |
1/20 |
- |
1 |
1-27023279-A-G |
c.385A>G |
p.S129G |
Missense |
1/20 |
- |
1 |
1-27023280-G-A |
c.386G>A |
p.S129N |
Missense |
1/20 |
- |
1 |
1-27023277-GCAGCGATGGGGTGGGGGCGCCTCCTCACT-G |
c.388_416del |
p.D130Rfs*260 |
Frameshift |
1/20 |
- |
1 |
1-27023282-G-A |
c.388G>A |
p.D130N |
Missense |
1/20 |
- |
1 |
1-27023282-G-C |
c.388G>C |
p.D130H |
Missense |
1/20 |
- |
1 |
1-27023282-G-T |
c.388G>T |
p.D130Y |
Missense |
1/20 |
- |
1 |
1-27023284-T-C |
c.390T>C |
p.D130= |
Synonymous |
1/20 |
- |
1 |
1-27023284-T-G |
c.390T>G |
p.D130E |
Missense |
1/20 |
- |
1 |
1-27023285-G-A |
c.391G>A |
p.G131R |
Missense |
1/20 |
- |
2 |
1-27023285-G-C |
c.391G>C |
p.G131R |
Missense |
1/20 |
- |
1 |
1-27023286-G-A |
c.392G>A |
p.G131E |
Missense |
1/20 |
- |
1 |
1-27023286-GG-AC |
c.392_393delinsAC |
p.G131D |
Missense |
1/20 |
- |
1 |
1-27023284-TG-T |
c.394del |
p.V132Wfs*100 |
Frameshift |
1/20 |
- |
2 |
1-27023288-G-A |
c.394G>A |
p.V132M |
Missense |
1/20 |
- |
2 |
1-27023283-ATGGGG-A |
c.395_399del |
p.V132Gfs*266 |
Frameshift |
1/20 |
- |
1 |
1-27023288-G-GT |
c.395dup |
p.A134Gfs*266 |
Frameshift |
1/20 |
- |
1 |
1-27023289-GT-G |
c.395del |
p.V132Gfs*100 |
Frameshift |
1/20 |
- |
1 |
1-27023290-G-C |
c.396G>C |
p.V132= |
Synonymous |
1/20 |
- |
1 |
1-27023292-G-C |
c.398G>C |
p.G133A |
Missense |
1/20 |
- |
1 |
1-27023292-GG-AC |
c.398_399delinsAC |
p.G133D |
Missense |
1/20 |
- |
1 |
1-27023292-G-T |
c.398G>T |
p.G133V |
Missense |
1/20 |
- |
1 |
1-27023289-TG-T |
c.400del |
p.A134Rfs*98 |
Frameshift |
1/20 |
- |
3 |
1-27023294-G-A |
c.400G>A |
p.A134T |
Missense |
1/20 |
- |
2 |
1-27023295-C-T |
c.401C>T |
p.A134V |
Missense |
1/20 |
- |
4 |
1-27023297-C-T |
c.403C>T |
p.P135S |
Missense |
1/20 |
- |
1 |
1-27023298-C-T |
c.404C>T |
p.P135L |
Missense |
1/20 |
- |
3 |
1-27023300-C-A |
c.406C>A |
p.P136T |
Missense |
1/20 |
- |
4 |
1-27023300-C-G |
c.406C>G |
p.P136A |
Missense |
1/20 |
- |
1 |
1-27023300-C-T |
c.406C>T |
p.P136S |
Missense |
1/20 |
- |
1 |
1-27023303-C-G |
c.409C>G |
p.H137D |
Missense |
1/20 |
- |
1 |
1-27023303-C-T |
c.409C>T |
p.H137Y |
Missense |
1/20 |
- |
2 |
1-27023300-CCTCA-C |
c.411_414del |
p.H137Qfs*94 |
Frameshift |
1/20 |
- |
2 |
1-27023306-T-C |
c.412T>C |
p.S138P |
Missense |
1/20 |
- |
1 |
1-27023307-C-A |
c.413C>A |
p.S138* |
Nonsense |
1/20 |
- |
7 |
1-27023307-CA-GT |
c.413_414delinsGT |
p.S138C |
Missense |
1/20 |
- |
1 |
1-27023307-C-G |
c.413C>G |
p.S138* |
Nonsense |
1/20 |
- |
10 |
1-27023307-C-T |
c.413C>T |
p.S138L |
Missense |
1/20 |
- |
1 |
1-27023308-A-G |
c.414A>G |
p.S138= |
Synonymous |
1/20 |
- |
1 |
1-27023308-CA-C |
c.414del |
p.A139Pfs*93 |
Frameshift |
1/20 |
- |
1 |
1-27023309-G-C |
c.415G>C |
p.A139P |
Missense |
1/20 |
- |
1 |
1-27023310-C-A |
c.416C>A |
p.A139D |
Missense |
1/20 |
- |
1 |
1-27023310-C-T |
c.416C>T |
p.A139V |
Missense |
1/20 |
- |
1 |
1-27023308-AGCCGCGGCCGCCTTGCC-A |
c.418_434del |
p.A140Pfs*254 |
Frameshift |
1/20 |
- |
1 |
1-27023312-G-A |
c.418G>A |
p.A140T |
Missense |
1/20 |
- |
2 |
1-27023313-C-T |
c.419C>T |
p.A140V |
Missense |
1/20 |
- |
3 |
1-27023313-CG-C |
c.421del |
p.A141Pfs*91 |
Frameshift |
1/20 |
- |
1 |
1-27023315-G-A |
c.421G>A |
p.A141T |
Missense |
1/20 |
- |
1 |
1-27023315-G-T |
c.421G>T |
p.A141S |
Missense |
1/20 |
- |
1 |
1-27023316-C-T |
c.422C>T |
p.A141V |
Missense |
1/20 |
- |
1 |
1-27023317-C-G |
c.423C>G |
p.A141= |
Synonymous |
1/20 |
- |
1 |
1-27023318-CG-C |
c.424del |
p.A142Pfs*90 |
Frameshift |
1/20 |
- |
1 |
1-27023318-G-A |
c.424G>A |
p.A142T |
Missense |
1/20 |
- |
1 |
1-27023318-G-T |
c.424G>T |
p.A142S |
Missense |
1/20 |
- |
1 |
1-27023319-C-T |
c.425C>T |
p.A142V |
Missense |
1/20 |
- |
2 |
1-27023320-C-CT |
c.428dup |
p.L143Ffs*257 |
Frameshift |
1/20 |
- |
1 |
1-27023322-T-A |
c.428T>A |
p.L143* |
Nonsense |
1/20 |
- |
2 |
1-27023322-T-C |
c.428T>C |
p.L143S |
Missense |
1/20 |
- |
2 |
1-27023324-C-G |
c.430C>G |
p.P144A |
Missense |
1/20 |
- |
1 |
1-27023324-C-T |
c.430C>T |
p.P144S |
Missense |
1/20 |
- |
1 |
1-27023323-GCCGCCCCCAGC-G |
c.431_441del |
p.P144Lfs*252 |
Frameshift |
1/20 |
- |
1 |
1-27023325-C-A |
c.431C>A |
p.P144Q |
Missense |
1/20 |
- |
1 |
1-27023323-GCCGCCCCCAGCCTACGGCTTCGGGCAAC-G |
c.432_459del |
p.P145Tfs*78 |
Frameshift |
1/20 |
- |
1 |
1-27023326-G-T |
c.432G>T |
p.P144= |
Synonymous |
1/20 |
- |
1 |
1-27023327-C-T |
c.433C>T |
p.P145S |
Missense |
1/20 |
- |
1 |
1-27023328-C-T |
c.434C>T |
p.P145L |
Missense |
1/20 |
- |
1 |
1-27023330-C-G |
c.436C>G |
p.P146A |
Missense |
1/20 |
- |
1 |
1-27023330-C-T |
c.436C>T |
p.P146S |
Missense |
1/20 |
- |
1 |
1-27023326-GC-G |
c.437del |
p.P146Qfs*86 |
Frameshift |
1/20 |
- |
8 |
1-27023331-C-T |
c.437C>T |
p.P146L |
Missense |
1/20 |
- |
3 |
1-27023331-C-CA |
c.438dup |
p.A147Sfs*253 |
Frameshift |
1/20 |
- |
2 |
1-27023332-A-C |
c.438A>C |
p.P146= |
Synonymous |
1/20 |
- |
2 |
1-27023332-A-G |
c.438A>G |
p.P146= |
Synonymous |
1/20 |
- |
1 |
1-27023332-A-T |
c.438A>T |
p.P146= |
Synonymous |
1/20 |
- |
1 |
1-27023333-G-T |
c.439G>T |
p.A147S |
Missense |
1/20 |
- |
1 |
1-27023334-C-T |
c.440C>T |
p.A147V |
Missense |
1/20 |
- |
1 |
1-27023337-A-G |
c.443A>G |
p.Y148C |
Missense |
1/20 |
- |
1 |
1-27023338-C-A |
c.444C>A |
p.Y148* |
Nonsense |
1/20 |
- |
3 |
1-27023338-C-G |
c.444C>G |
p.Y148* |
Nonsense |
1/20 |
- |
2 |
1-27023340-G-A |
c.446G>A |
p.G149D |
Missense |
1/20 |
- |
1 |
1-27023340-G-T |
c.446G>T |
p.G149V |
Missense |
1/20 |
- |
1 |
1-27023341-GC-G |
c.447del |
p.F150Sfs*82 |
Frameshift |
1/20 |
- |
1 |
1-27023342-T-C |
c.448T>C |
p.F150L |
Missense |
1/20 |
- |
2 |
1-27023344-C-A |
c.450C>A |
p.F150L |
Missense |
1/20 |
- |
1 |
1-27023344-C-G |
c.450C>G |
p.F150L |
Missense |
1/20 |
- |
1 |
1-27023343-T-A |
c.449T>A |
p.F150Y |
Missense |
1/20 |
- |
1 |
1-27023345-G-A |
c.451G>A |
p.G151R |
Missense |
1/20 |
- |
2 |
1-27023345-G-C |
c.451G>C |
p.G151R |
Missense |
1/20 |
- |
2 |
1-27023345-GGG-AGC |
c.451_453delinsAGC |
p.G151S |
Missense |
1/20 |
- |
1 |
1-27023346-G-C |
c.452G>C |
p.G151A |
Missense |
1/20 |
- |
1 |
1-27023346-G-T |
c.452G>T |
p.G151V |
Missense |
1/20 |
- |
2 |
1-27023348-C-T |
c.454C>T |
p.Q152* |
Nonsense |
1/20 |
- |
5 |
1-27023347-GCAACCCTACGGCCGGAGCCCGTCTGCCGTCGCCGC-G |
c.455_489del |
p.Q152Rfs*236 |
Frameshift |
1/20 |
- |
1 |
1-27023349-A-G |
c.455A>G |
p.Q152R |
Missense |
1/20 |
- |
1 |
1-27023351-C-G |
c.457C>G |
p.P153A |
Missense |
1/20 |
- |
8 |
1-27023351-C-T |
c.457C>T |
p.P153S |
Missense |
1/20 |
- |
1 |
1-27023352-C-G |
c.458C>G |
p.P153R |
Missense |
1/20 |
- |
1 |
1-27023352-C-T |
c.458C>T |
p.P153L |
Missense |
1/20 |
- |
2 |
1-27023354-CT-C |
c.460del |
p.Y154Tfs*78 |
Frameshift |
1/20 |
- |
1 |
1-27023354-T-C |
c.460T>C |
p.Y154H |
Missense |
1/20 |
- |
1 |
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 |
1-27023360-CGG-TGT |
c.466_468delinsTGT |
p.R156C |
Missense |
1/20 |
- |
1 |
1-27023360-CG-TA |
c.466_467delinsTA |
p.R156* |
Nonsense |
1/20 |
- |
1 |
1-27023361-G-C |
c.467G>C |
p.R156P |
Missense |
1/20 |
- |
3 |
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 |
1-27023363-AG-TT |
c.469_470delinsTT |
p.S157F |
Missense |
1/20 |
- |
1 |
1-27023365-C-T |
c.471C>T |
p.S157= |
Synonymous |
1/20 |
- |
1 |
1-27023366-C-T |
c.472C>T |
p.P158S |
Missense |
1/20 |
- |
13 |
1-27023367-C-T |
c.473C>T |
p.P158L |
Missense |
1/20 |
- |
1 |
1-27023369-TC-CG |
c.475_476delinsCG |
p.S159R |
Missense |
1/20 |
- |
1 |
1-27023369-T-G |
c.475T>G |
p.S159A |
Missense |
1/20 |
- |
1 |
1-27023370-C-G |
c.476C>G |
p.S159C |
Missense |
1/20 |
- |
1 |
1-27023370-C-T |
c.476C>T |
p.S159F |
Missense |
1/20 |
- |
2 |
1-27023371-T-A |
c.477T>A |
p.S159= |
Synonymous |
1/20 |
- |
1 |
1-27023371-T-TG |
c.478dup |
p.A160Gfs*240 |
Frameshift |
1/20 |
- |
1 |
1-27023373-C-T |
c.479C>T |
p.A160V |
Missense |
1/20 |
- |
3 |
1-27023375-G-C |
c.481G>C |
p.V161L |
Missense |
1/20 |
- |
1 |
1-27023371-TGCCGTC-T |
c.482_487del |
p.V161_A162del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023373-CCGT-C |
c.482_484del |
p.V161del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023376-T-A |
c.482T>A |
p.V161D |
Missense |
1/20 |
- |
1 |
1-27023376-T-C |
c.482T>C |
p.V161A |
Missense |
1/20 |
- |
4 |
1-27023376-T-G |
c.482T>G |
p.V161G |
Missense |
1/20 |
- |
1 |
1-27023377-C-CAGG |
c.483_484insAGG |
p.V161_A162insR |
InFrameInsertion |
1/20 |
- |
2 |
1-27023378-G-A |
c.484G>A |
p.A162T |
Missense |
1/20 |
- |
2 |
1-27023376-TCGCCGCCGCCG-T |
c.485_495del |
p.A162Gfs*234 |
Frameshift |
1/20 |
- |
1 |
1-27023377-C-CGCA |
c.485_486insAGC |
p.A167dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27023379-C-T |
c.485C>T |
p.A162V |
Missense |
1/20 |
- |
1 |
1-27023378-GCCGCCGC-G |
c.486_492del |
p.A163Rfs*67 |
Frameshift |
1/20 |
- |
1 |
1-27023381-G-T |
c.487G>T |
p.A163S |
Missense |
1/20 |
- |
1 |
1-27023382-C-T |
c.488C>T |
p.A163V |
Missense |
1/20 |
- |
4 |
1-27023376-TCGCCGC-T |
c.489_494del |
p.A166_A167del |
InFrameDeletion |
1/20 |
- |
2 |
1-27023384-G-A |
c.490G>A |
p.A164T |
Missense |
1/20 |
- |
3 |
1-27023384-G-C |
c.490G>C |
p.A164P |
Missense |
1/20 |
- |
1 |
1-27023384-G-T |
c.490G>T |
p.A164S |
Missense |
1/20 |
- |
1 |
1-27023385-C-T |
c.491C>T |
p.A164V |
Missense |
1/20 |
- |
1 |
1-27023376-TCGC-T |
c.492_494del |
p.A167del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023386-C-G |
c.492C>G |
p.A164= |
Synonymous |
1/20 |
- |
3 |
1-27023388-C-G |
c.494C>G |
p.A165G |
Missense |
1/20 |
- |
2 |
1-27023388-CG-AC |
c.494_495delinsAC |
p.A165D |
Missense |
1/20 |
- |
1 |
1-27023388-GC-G |
c.494del |
p.A165Gfs*67 |
Frameshift |
1/20 |
- |
2 |
1-27023389-G-A |
c.495G>A |
p.A165= |
Synonymous |
1/20 |
- |
1 |
1-27023390-G-A |
c.496G>A |
p.A166T |
Missense |
1/20 |
- |
2 |
1-27023389-G-GGCA |
c.497_498insAGC |
p.A167dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27023391-C-G |
c.497C>G |
p.A166G |
Missense |
1/20 |
- |
1 |
1-27023391-C-T |
c.497C>T |
p.A166V |
Missense |
1/20 |
- |
4 |
1-27023392-C-A |
c.498C>A |
p.A166= |
Synonymous |
1/20 |
- |
1 |
1-27023392-C-G |
c.498C>G |
p.A166= |
Synonymous |
1/20 |
- |
1 |
1-27023392-C-T |
c.498C>T |
p.A166= |
Synonymous |
1/20 |
- |
1 |
1-27023392-C-CG |
c.499dup |
p.A167Gfs*233 |
Frameshift |
1/20 |
- |
1 |
1-27023389-GGCC-G |
c.500_502del |
p.A167del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023394-C-T |
c.500C>T |
p.A167V |
Missense |
1/20 |
- |
2 |
1-27023393-G-GC |
c.501dup |
p.V168Rfs*232 |
Frameshift |
1/20 |
- |
2 |
1-27023395-C-A |
c.501C>A |
p.A167= |
Synonymous |
1/20 |
- |
1 |
1-27023395-C-G |
c.501C>G |
p.A167= |
Synonymous |
1/20 |
- |
1 |
1-27023395-C-T |
c.501C>T |
p.A167= |
Synonymous |
1/20 |
- |
1 |
1-27023396-G-A |
c.502G>A |
p.V168I |
Missense |
1/20 |
- |
1 |
1-27023397-T-C |
c.503T>C |
p.V168A |
Missense |
1/20 |
- |
1 |
1-27023397-T-G |
c.503T>G |
p.V168G |
Missense |
1/20 |
- |
2 |
1-27023398-C-A |
c.504C>A |
p.V168= |
Synonymous |
1/20 |
- |
1 |
1-27023399-T-C |
c.505T>C |
p.F169L |
Missense |
1/20 |
- |
1 |
1-27023400-TC-T |
c.508del |
p.H170Tfs*62 |
Frameshift |
1/20 |
- |
2 |
1-27023402-C-A |
c.508C>A |
p.H170N |
Missense |
1/20 |
- |
1 |
1-27023402-C-T |
c.508C>T |
p.H170Y |
Missense |
1/20 |
- |
1 |
1-27023403-A-C |
c.509A>C |
p.H170P |
Missense |
1/20 |
- |
1 |
1-27023403-A-G |
c.509A>G |
p.H170R |
Missense |
1/20 |
- |
1 |
1-27023404-C-A |
c.510C>A |
p.H170Q |
Missense |
1/20 |
- |
1 |
1-27023404-C-G |
c.510C>G |
p.H170Q |
Missense |
1/20 |
- |
2 |
1-27023405-C-A |
c.511C>A |
p.Q171K |
Missense |
1/20 |
- |
1 |
1-27023405-C-G |
c.511C>G |
p.Q171E |
Missense |
1/20 |
- |
1 |
1-27023405-C-T |
c.511C>T |
p.Q171* |
Nonsense |
1/20 |
- |
4 |
1-27023406-A-G |
c.512A>G |
p.Q171R |
Missense |
1/20 |
- |
2 |
1-27023407-A-C |
c.513A>C |
p.Q171H |
Missense |
1/20 |
- |
5 |
1-27023407-A-G |
c.513A>G |
p.Q171= |
Synonymous |
1/20 |
- |
1 |
1-27023407-A-T |
c.513A>T |
p.Q171H |
Missense |
1/20 |
- |
2 |
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 |
- |
5 |
1-27023409-A-T |
c.515A>T |
p.Q172L |
Missense |
1/20 |
- |
1 |
1-27023410-A-C |
c.516A>C |
p.Q172H |
Missense |
1/20 |
- |
2 |
1-27023410-A-T |
c.516A>T |
p.Q172H |
Missense |
1/20 |
- |
1 |
1-27023411-CA-GC |
c.517_518delinsGC |
p.H173A |
Missense |
1/20 |
- |
1 |
1-27023411-C-T |
c.517C>T |
p.H173Y |
Missense |
1/20 |
- |
1 |
1-27023412-A-C |
c.518A>C |
p.H173P |
Missense |
1/20 |
- |
1 |
1-27023412-A-G |
c.518A>G |
p.H173R |
Missense |
1/20 |
- |
3 |
1-27023413-T-G |
c.519T>G |
p.H173Q |
Missense |
1/20 |
- |
2 |
1-27023414-G-A |
c.520G>A |
p.G174S |
Missense |
1/20 |
- |
2 |
1-27023417-G-T |
c.523G>T |
p.G175* |
Nonsense |
1/20 |
- |
2 |
1-27023418-G-A |
c.524G>A |
p.G175E |
Missense |
1/20 |
- |
1 |
1-27023418-G-T |
c.524G>T |
p.G175V |
Missense |
1/20 |
- |
1 |
1-27023419-A-AG |
c.525_526insG |
p.Q176Afs*224 |
Frameshift |
1/20 |
- |
1 |
1-27023419-A-AC |
c.526dup |
p.Q176Pfs*224 |
Frameshift |
1/20 |
- |
1 |
1-27023420-C-T |
c.526C>T |
p.Q176* |
Nonsense |
1/20 |
- |
7 |
1-27023420-CA-C |
c.528del |
p.Q176Hfs*56 |
Frameshift |
1/20 |
- |
1 |
1-27023420-C-CA |
c.528dup |
p.Q177Tfs*223 |
Frameshift |
1/20 |
- |
1 |
1-27023423-C-T |
c.529C>T |
p.Q177* |
Nonsense |
1/20 |
- |
7 |
1-27023424-A-G |
c.530A>G |
p.Q177R |
Missense |
1/20 |
- |
1 |
1-27023425-A-C |
c.531A>C |
p.Q177H |
Missense |
1/20 |
- |
1 |
1-27023425-A-T |
c.531A>T |
p.Q177H |
Missense |
1/20 |
- |
1 |
1-27023423-C-CA |
c.532dup |
p.S178Kfs*222 |
Frameshift |
1/20 |
- |
1 |
1-27023426-AG-CT |
c.532_533inv |
p.S178L |
Missense |
1/20 |
- |
1 |
1-27023427-G-T |
c.533G>T |
p.S178I |
Missense |
1/20 |
- |
2 |
1-27023428-C-T |
c.534C>T |
p.S178= |
Synonymous |
1/20 |
- |
2 |
1-27023429-CC-GT |
c.535_536delinsGT |
p.P179V |
Missense |
1/20 |
- |
1 |
1-27023429-C-T |
c.535C>T |
p.P179S |
Missense |
1/20 |
- |
2 |
1-27023430-C-A |
c.536C>A |
p.P179H |
Missense |
1/20 |
- |
2 |
1-27023430-C-G |
c.536C>G |
p.P179R |
Missense |
1/20 |
- |
7 |
1-27023430-C-T |
c.536C>T |
p.P179L |
Missense |
1/20 |
- |
2 |
1-27023431-T-A |
c.537T>A |
p.P179= |
Synonymous |
1/20 |
- |
2 |
1-27023431-T-C |
c.537T>C |
p.P179= |
Synonymous |
1/20 |
- |
1 |
1-27023431-T-G |
c.537T>G |
p.P179= |
Synonymous |
1/20 |
- |
1 |
1-27023432-G-A |
c.538G>A |
p.G180S |
Missense |
1/20 |
- |
2 |
1-27023433-G-A |
c.539G>A |
p.G180D |
Missense |
1/20 |
- |
1 |
1-27023433-G-T |
c.539G>T |
p.G180V |
Missense |
1/20 |
- |
1 |
1-27023434-C-A |
c.540C>A |
p.G180= |
Synonymous |
1/20 |
- |
4 |
1-27023434-C-G |
c.540C>G |
p.G180= |
Synonymous |
1/20 |
- |
4 |
1-27023434-C-T |
c.540C>T |
p.G180= |
Synonymous |
1/20 |
- |
6 |
1-27023433-GC-G |
c.541del |
p.L181Wfs*51 |
Frameshift |
1/20 |
- |
1 |
1-27023438-G-A |
c.544G>A |
p.A182T |
Missense |
1/20 |
- |
3 |
1-27023441-AG-A |
c.547del |
p.A183Rfs*49 |
Frameshift |
1/20 |
- |
1 |
1-27023441-G-A |
c.547G>A |
p.A183T |
Missense |
1/20 |
- |
6 |
1-27023441-G-T |
c.547G>T |
p.A183S |
Missense |
1/20 |
- |
1 |
1-27023442-C-T |
c.548C>T |
p.A183V |
Missense |
1/20 |
- |
2 |
1-27023444-C-T |
c.550C>T |
p.L184= |
Synonymous |
1/20 |
- |
2 |
1-27023445-T-A |
c.551T>A |
p.L184Q |
Missense |
1/20 |
- |
1 |
1-27023445-T-C |
c.551T>C |
p.L184P |
Missense |
1/20 |
- |
1 |
1-27023446-G-A |
c.552G>A |
p.L184= |
Synonymous |
1/20 |
- |
1 |
1-27023446-G-C |
c.552G>C |
p.L184= |
Synonymous |
1/20 |
- |
1 |
1-27023446-G-T |
c.552G>T |
p.L184= |
Synonymous |
1/20 |
- |
1 |
1-27023447-C-T |
c.553C>T |
p.Q185* |
Nonsense |
1/20 |
- |
10 |
1-27023447-C-CA |
c.554dup |
p.S186Efs*214 |
Frameshift |
1/20 |
- |
1 |
1-27023449-G-A |
c.555G>A |
p.Q185= |
Synonymous |
1/20 |
- |
1 |
1-27023449-G-C |
c.555G>C |
p.Q185H |
Missense |
1/20 |
- |
1 |
1-27023449-G-GT |
c.555_556insT |
p.S186* |
Nonsense |
1/20 |
- |
1 |
1-27023449-G-T |
c.555G>T |
p.Q185H |
Missense |
1/20 |
- |
3 |
1-27023450-A-G |
c.556A>G |
p.S186G |
Missense |
1/20 |
- |
1 |
1-27023451-G-T |
c.557G>T |
p.S186I |
Missense |
1/20 |
- |
1 |
1-27023450-AGCGGCGGCGGCGGG-A |
c.558_571del |
p.S186Rfs*209 |
Frameshift |
1/20 |
- |
1 |
1-27023452-GC-G |
c.558del |
p.S186Rfs*46 |
Frameshift |
1/20 |
- |
1 |
1-27023453-G-A |
c.559G>A |
p.G187S |
Missense |
1/20 |
- |
4 |
1-27023454-G-A |
c.560G>A |
p.G187D |
Missense |
1/20 |
- |
1 |
1-27023454-G-C |
c.560G>C |
p.G187A |
Missense |
1/20 |
- |
1 |
1-27023454-G-T |
c.560G>T |
p.G187V |
Missense |
1/20 |
- |
1 |
1-27023456-G-A |
c.562G>A |
p.G188S |
Missense |
1/20 |
- |
1 |
1-27023456-G-T |
c.562G>T |
p.G188C |
Missense |
1/20 |
- |
1 |
1-27023455-CG-C |
c.563del |
p.G188Afs*44 |
Frameshift |
1/20 |
- |
1 |
1-27023457-G-A |
c.563G>A |
p.G188D |
Missense |
1/20 |
- |
2 |
1-27023458-C-CG |
c.566dup |
p.G190Rfs*210 |
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 |
- |
6 |
1-27023459-GGC-G |
c.567_568del |
p.G191Pfs*208 |
Frameshift |
1/20 |
- |
1 |
1-27023462-G-A |
c.568G>A |
p.G190R |
Missense |
1/20 |
- |
4 |
1-27023462-G-C |
c.568G>C |
p.G190R |
Missense |
1/20 |
- |
1 |
1-27023462-G-T |
c.568G>T |
p.G190W |
Missense |
1/20 |
- |
1 |
1-27023463-G-C |
c.569G>C |
p.G190A |
Missense |
1/20 |
- |
1 |
1-27023463-G-T |
c.569G>T |
p.G190V |
Missense |
1/20 |
- |
1 |
1-27023464-G-T |
c.570G>T |
p.G190= |
Synonymous |
1/20 |
- |
1 |
1-27023465-G-A |
c.571G>A |
p.G191S |
Missense |
1/20 |
- |
1 |
1-27023465-G-C |
c.571G>C |
p.G191R |
Missense |
1/20 |
- |
3 |
1-27023465-GGGC-G |
c.571_573del |
p.G191del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023466-G-A |
c.572G>A |
p.G191D |
Missense |
1/20 |
- |
1 |
1-27023466-G-C |
c.572G>C |
p.G191A |
Missense |
1/20 |
- |
2 |
1-27023466-G-T |
c.572G>T |
p.G191V |
Missense |
1/20 |
- |
2 |
1-27023468-C-T |
c.574C>T |
p.L192= |
Synonymous |
1/20 |
- |
4 |
1-27023471-G-A |
c.577G>A |
p.E193K |
Missense |
1/20 |
- |
2 |
1-27023471-G-C |
c.577G>C |
p.E193Q |
Missense |
1/20 |
- |
1 |
1-27023471-G-T |
c.577G>T |
p.E193* |
Nonsense |
1/20 |
- |
1 |
1-27023472-A-G |
c.578A>G |
p.E193G |
Missense |
1/20 |
- |
1 |
1-27023473-G-A |
c.579G>A |
p.E193= |
Synonymous |
1/20 |
- |
2 |
1-27023473-G-C |
c.579G>C |
p.E193D |
Missense |
1/20 |
- |
1 |
1-27023473-G-T |
c.579G>T |
p.E193D |
Missense |
1/20 |
- |
2 |
1-27023474-C-T |
c.580C>T |
p.P194S |
Missense |
1/20 |
- |
1 |
1-27023475-C-A |
c.581C>A |
p.P194H |
Missense |
1/20 |
- |
1 |
1-27023475-CC-AA |
c.581_582delinsAA |
p.P194Q |
Missense |
1/20 |
- |
1 |
1-27023475-C-G |
c.581C>G |
p.P194R |
Missense |
1/20 |
- |
1 |
1-27023475-C-T |
c.581C>T |
p.P194L |
Missense |
1/20 |
- |
9 |
1-27023476-C-CT |
c.583dup |
p.Y195Lfs*205 |
Frameshift |
1/20 |
- |
1 |
1-27023477-T-C |
c.583T>C |
p.Y195H |
Missense |
1/20 |
- |
2 |
1-27023478-A-G |
c.584A>G |
p.Y195C |
Missense |
1/20 |
- |
1 |
1-27023478-TA-T |
c.584del |
p.Y195Sfs*37 |
Frameshift |
1/20 |
- |
1 |
1-27023479-C-A |
c.585C>A |
p.Y195* |
Nonsense |
1/20 |
- |
2 |
1-27023479-C-G |
c.585C>G |
p.Y195* |
Nonsense |
1/20 |
- |
1 |
1-27023481-GC-G |
c.587del |
p.A196Gfs*36 |
Frameshift |
1/20 |
- |
1 |
1-27023482-G-A |
c.588G>A |
p.A196= |
Synonymous |
1/20 |
- |
2 |
1-27023482-G-C |
c.588G>C |
p.A196= |
Synonymous |
1/20 |
- |
4 |
1-27023482-G-T |
c.588G>T |
p.A196= |
Synonymous |
1/20 |
- |
2 |
1-27023483-G-A |
c.589G>A |
p.G197R |
Missense |
1/20 |
- |
1 |
1-27023483-G-C |
c.589G>C |
p.G197R |
Missense |
1/20 |
- |
1 |
1-27023483-GGG-AGC |
c.589_591delinsAGC |
p.G197S |
Missense |
1/20 |
- |
3 |
1-27023484-G-A |
c.590G>A |
p.G197E |
Missense |
1/20 |
- |
2 |
1-27023485-G-A |
c.591G>A |
p.G197= |
Synonymous |
1/20 |
- |
1 |
1-27023486-C-A |
c.592C>A |
p.P198T |
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 |
1-27023487-C-T |
c.593C>T |
p.P198L |
Missense |
1/20 |
- |
4 |
1-27023489-C-T |
c.595C>T |
p.Q199* |
Nonsense |
1/20 |
- |
9 |
1-27023490-A-C |
c.596A>C |
p.Q199P |
Missense |
1/20 |
- |
1 |
1-27023490-A-G |
c.596A>G |
p.Q199R |
Missense |
1/20 |
- |
1 |
1-27023490-A-T |
c.596A>T |
p.Q199L |
Missense |
1/20 |
- |
1 |
1-27023492-CA-AC |
c.598_599delinsAC |
p.Q200T |
Missense |
1/20 |
- |
1 |
1-27023492-C-T |
c.598C>T |
p.Q200* |
Nonsense |
1/20 |
- |
15 |
1-27023495-A-G |
c.601A>G |
p.N201D |
Missense |
1/20 |
- |
1 |
1-27023497-C-A |
c.603C>A |
p.N201K |
Missense |
1/20 |
- |
2 |
1-27023497-C-G |
c.603C>G |
p.N201K |
Missense |
1/20 |
- |
3 |
1-27023497-C-T |
c.603C>T |
p.N201= |
Synonymous |
1/20 |
- |
2 |
1-27023498-T-C |
c.604T>C |
p.S202P |
Missense |
1/20 |
- |
1 |
1-27023499-C-G |
c.605C>G |
p.S202C |
Missense |
1/20 |
- |
1 |
1-27023499-C-T |
c.605C>T |
p.S202F |
Missense |
1/20 |
- |
2 |
1-27023499-CT-AA |
c.605_606delinsAA |
p.S202* |
Nonsense |
1/20 |
- |
1 |
1-27023500-T-G |
c.606T>G |
p.S202= |
Synonymous |
1/20 |
- |
2 |
1-27023501-C-A |
c.607C>A |
p.H203N |
Missense |
1/20 |
- |
1 |
1-27023501-C-CA |
c.608dup |
p.H203Qfs*197 |
Frameshift |
1/20 |
- |
3 |
1-27023502-A-G |
c.608A>G |
p.H203R |
Missense |
1/20 |
- |
3 |
1-27023503-AC-A |
c.609del |
p.H203Qfs*29 |
Frameshift |
1/20 |
- |
1 |
1-27023503-C-A |
c.609C>A |
p.H203Q |
Missense |
1/20 |
- |
4 |
1-27023503-C-CT |
c.609_610insT |
p.D204* |
Nonsense |
1/20 |
- |
1 |
1-27023503-C-G |
c.609C>G |
p.H203Q |
Missense |
1/20 |
- |
3 |
1-27023503-C-T |
c.609C>T |
p.H203= |
Synonymous |
1/20 |
- |
1 |
1-27023504-G-A |
c.610G>A |
p.D204N |
Missense |
1/20 |
- |
3 |
1-27023504-G-T |
c.610G>T |
p.D204Y |
Missense |
1/20 |
- |
2 |
1-27023505-A-G |
c.611A>G |
p.D204G |
Missense |
1/20 |
- |
2 |
1-27023506-C-A |
c.612C>A |
p.D204E |
Missense |
1/20 |
- |
1 |
1-27023506-C-G |
c.612C>G |
p.D204E |
Missense |
1/20 |
- |
2 |
1-27023507-C-G |
c.613C>G |
p.H205D |
Missense |
1/20 |
- |
2 |
1-27023508-CA-C |
c.614del |
p.H205Pfs*27 |
Frameshift |
1/20 |
- |
1 |
1-27023505-ACCACGGCTTCC-A |
c.615_625del |
p.H205Qfs*191 |
Frameshift |
1/20 |
- |
1 |
1-27023510-G-A |
c.616G>A |
p.G206S |
Missense |
1/20 |
- |
5 |
1-27023510-G-T |
c.616G>T |
p.G206C |
Missense |
1/20 |
- |
1 |
1-27023511-G-A |
c.617G>A |
p.G206D |
Missense |
1/20 |
- |
2 |
1-27023511-G-T |
c.617G>T |
p.G206V |
Missense |
1/20 |
- |
2 |
1-27023513-T-C |
c.619T>C |
p.F207L |
Missense |
1/20 |
- |
2 |
1-27023515-C-A |
c.621C>A |
p.F207L |
Missense |
1/20 |
- |
2 |
1-27023515-C-G |
c.621C>G |
p.F207L |
Missense |
1/20 |
- |
2 |
1-27023516-C-A |
c.622C>A |
p.P208T |
Missense |
1/20 |
- |
4 |
1-27023516-C-T |
c.622C>T |
p.P208S |
Missense |
1/20 |
- |
6 |
1-27023517-C-A |
c.623C>A |
p.P208H |
Missense |
1/20 |
- |
1 |
1-27023517-C-T |
c.623C>T |
p.P208L |
Missense |
1/20 |
- |
4 |
1-27023518-C-CT |
c.624_625insT |
p.N209* |
Nonsense |
1/20 |
- |
1 |
1-27023519-A-G |
c.625A>G |
p.N209D |
Missense |
1/20 |
- |
1 |
1-27023519-A-T |
c.625A>T |
p.N209Y |
Missense |
1/20 |
- |
1 |
1-27023518-C-CA |
c.626dup |
p.N209Kfs*191 |
Frameshift |
1/20 |
- |
1 |
1-27023520-A-C |
c.626A>C |
p.N209T |
Missense |
1/20 |
- |
1 |
1-27023520-A-G |
c.626A>G |
p.N209S |
Missense |
1/20 |
- |
2 |
1-27023521-C-T |
c.627C>T |
p.N209= |
Synonymous |
1/20 |
- |
2 |
1-27023520-A-AC |
c.628dup |
p.H210Pfs*190 |
Frameshift |
1/20 |
- |
1 |
1-27023522-C-A |
c.628C>A |
p.H210N |
Missense |
1/20 |
- |
1 |
1-27023523-A-C |
c.629A>C |
p.H210P |
Missense |
1/20 |
- |
1 |
1-27023523-A-G |
c.629A>G |
p.H210R |
Missense |
1/20 |
- |
1 |
1-27023524-C-G |
c.630C>G |
p.H210Q |
Missense |
1/20 |
- |
1 |
1-27023524-C-T |
c.630C>T |
p.H210= |
Synonymous |
1/20 |
- |
1 |
1-27023525-C-T |
c.631C>T |
p.Q211* |
Nonsense |
1/20 |
- |
7 |
1-27023526-A-G |
c.632A>G |
p.Q211R |
Missense |
1/20 |
- |
1 |
1-27023527-G-GTAA |
c.635_636insATA |
p.Q211_Y212ins* |
InFrameInsertion |
1/20 |
- |
1 |
1-27023529-A-T |
c.635A>T |
p.Y212F |
Missense |
1/20 |
- |
1 |
1-27023530-AC-A |
c.636del |
p.Y212* |
Frameshift |
1/20 |
- |
1 |
1-27023530-C-A |
c.636C>A |
p.Y212* |
Nonsense |
1/20 |
- |
4 |
1-27023530-C-G |
c.636C>G |
p.Y212* |
Nonsense |
1/20 |
- |
4 |
1-27023533-C-A |
c.639C>A |
p.N213K |
Missense |
1/20 |
- |
1 |
1-27023533-C-G |
c.639C>G |
p.N213K |
Missense |
1/20 |
- |
1 |
1-27023534-CT-C |
c.640del |
p.S214Pfs*18 |
Frameshift |
1/20 |
- |
1 |
1-27023534-T-C |
c.640T>C |
p.S214P |
Missense |
1/20 |
- |
1 |
1-27023534-TC-GG |
c.640_641delinsGG |
p.S214G |
Missense |
1/20 |
- |
1 |
1-27023534-T-G |
c.640T>G |
p.S214A |
Missense |
1/20 |
- |
1 |
1-27023535-C-A |
c.641C>A |
p.S214Y |
Missense |
1/20 |
- |
1 |
1-27023535-CC-AA |
c.641_642delinsAA |
p.S214* |
Nonsense |
1/20 |
- |
1 |
1-27023535-C-G |
c.641C>G |
p.S214C |
Missense |
1/20 |
- |
1 |
1-27023535-C-T |
c.641C>T |
p.S214F |
Missense |
1/20 |
- |
2 |
1-27023536-C-G |
c.642C>G |
p.S214= |
Synonymous |
1/20 |
- |
1 |
1-27023539-C-A |
c.645C>A |
p.Y215* |
Nonsense |
1/20 |
- |
1 |
1-27023539-C-G |
c.645C>G |
p.Y215* |
Nonsense |
1/20 |
- |
3 |
1-27023540-CT-C |
c.646del |
p.Y216Tfs*16 |
Frameshift |
1/20 |
- |
1 |
1-27023540-T-C |
c.646T>C |
p.Y216H |
Missense |
1/20 |
- |
1 |
1-27023540-T-TAA |
c.647_648insAA |
p.Y216* |
Nonsense |
1/20 |
- |
1 |
1-27023541-A-C |
c.647A>C |
p.Y216S |
Missense |
1/20 |
- |
1 |
1-27023542-C-A |
c.648C>A |
p.Y216* |
Nonsense |
1/20 |
- |
5 |
1-27023542-C-G |
c.648C>G |
p.Y216* |
Nonsense |
1/20 |
- |
4 |
1-27023543-C-G |
c.649C>G |
p.P217A |
Missense |
1/20 |
- |
1 |
1-27023543-C-T |
c.649C>T |
p.P217S |
Missense |
1/20 |
- |
1 |
1-27023544-C-G |
c.650C>G |
p.P217R |
Missense |
1/20 |
- |
1 |
1-27023544-C-T |
c.650C>T |
p.P217L |
Missense |
1/20 |
- |
1 |
1-27023547-A-C |
c.653A>C |
p.N218T |
Missense |
1/20 |
- |
2 |
1-27023549-CG-AC |
c.655_656delinsAC |
p.R219T |
Missense |
1/20 |
- |
1 |
1-27023549-CGC-AAG |
c.655_657delinsAAG |
p.R219K |
Missense |
1/20 |
- |
1 |
1-27023549-CGC-TGA |
c.655_657delinsTGA |
p.R219* |
Nonsense |
1/20 |
- |
1 |
1-27023549-C-T |
c.655C>T |
p.R219C |
Missense |
1/20 |
- |
1 |
1-27023550-G-A |
c.656G>A |
p.R219H |
Missense |
1/20 |
- |
1 |
1-27023550-G-C |
c.656G>C |
p.R219P |
Missense |
1/20 |
- |
1 |
1-27023552-AG-CT |
c.658_659inv |
p.S220L |
Missense |
1/20 |
- |
1 |
1-27023553-AG-A |
c.659del |
p.S220Tfs*12 |
Frameshift |
1/20 |
- |
1 |
1-27023553-GCGC-G |
c.661_663del |
p.A221del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023555-CG-C |
c.661del |
p.A221Pfs*11 |
Frameshift |
1/20 |
- |
1 |
1-27023555-G-A |
c.661G>A |
p.A221T |
Missense |
1/20 |
- |
1 |
1-27023556-C-T |
c.662C>T |
p.A221V |
Missense |
1/20 |
- |
1 |
1-27023558-T-C |
c.664T>C |
p.Y222H |
Missense |
1/20 |
- |
1 |
1-27023559-A-C |
c.665A>C |
p.Y222S |
Missense |
1/20 |
- |
2 |
1-27023559-A-G |
c.665A>G |
p.Y222C |
Missense |
1/20 |
- |
2 |
1-27023559-TACCC-T |
c.665_668del |
p.Y222Sfs*9 |
Frameshift |
1/20 |
- |
1 |
1-27023559-TA-T |
c.665del |
p.Y222Sfs*10 |
Frameshift |
1/20 |
- |
2 |
1-27023560-C-A |
c.666C>A |
p.Y222* |
Nonsense |
1/20 |
- |
6 |
1-27023560-C-G |
c.666C>G |
p.Y222* |
Nonsense |
1/20 |
- |
4 |
1-27023561-C-T |
c.667C>T |
p.P223S |
Missense |
1/20 |
- |
2 |
1-27023562-C-A |
c.668C>A |
p.P223H |
Missense |
1/20 |
- |
1 |
1-27023562-C-T |
c.668C>T |
p.P223L |
Missense |
1/20 |
- |
2 |
1-27023564-C-CA |
c.670_671insA |
p.P224Hfs*176 |
Frameshift |
1/20 |
- |
1 |
1-27023564-C-G |
c.670C>G |
p.P224A |
Missense |
1/20 |
- |
1 |
1-27023564-C-T |
c.670C>T |
p.P224S |
Missense |
1/20 |
- |
2 |
1-27023559-A-AC |
c.671dup |
p.P225Afs*175 |
Frameshift |
1/20 |
- |
7 |
1-27023559-AC-A |
c.671del |
p.P224Rfs*8 |
Frameshift |
1/20 |
- |
7 |
1-27023565-C-T |
c.671C>T |
p.P224L |
Missense |
1/20 |
- |
2 |
1-27023566-G-A |
c.672G>A |
p.P224= |
Synonymous |
1/20 |
- |
1 |
1-27023566-G-C |
c.672G>C |
p.P224= |
Synonymous |
1/20 |
- |
1 |
1-27023566-G-T |
c.672G>T |
p.P224= |
Synonymous |
1/20 |
- |
2 |
1-27023567-C-A |
c.673C>A |
p.P225T |
Missense |
1/20 |
- |
2 |
1-27023567-C-CA |
c.673_674insA |
p.P225Hfs*175 |
Frameshift |
1/20 |
- |
1 |
1-27023567-C-T |
c.673C>T |
p.P225S |
Missense |
1/20 |
- |
3 |
1-27023568-C-A |
c.674C>A |
p.P225H |
Missense |
1/20 |
- |
1 |
1-27023568-C-G |
c.674C>G |
p.P225R |
Missense |
1/20 |
- |
1 |
1-27023568-C-T |
c.674C>T |
p.P225L |
Missense |
1/20 |
- |
2 |
1-27023569-CG-TC |
c.675_676delinsTC |
p.A226P |
Missense |
1/20 |
- |
1 |
1-27023569-C-T |
c.675C>T |
p.P225= |
Synonymous |
1/20 |
- |
2 |
1-27023569-C-CG |
c.676dup |
p.A226Gfs*174 |
Frameshift |
1/20 |
- |
1 |
1-27023570-G-A |
c.676G>A |
p.A226T |
Missense |
1/20 |
- |
5 |
1-27023570-G-C |
c.676G>C |
p.A226P |
Missense |
1/20 |
- |
15 |
1-27023570-G-T |
c.676G>T |
p.A226S |
Missense |
1/20 |
- |
4 |
1-27023571-C-A |
c.677C>A |
p.A226D |
Missense |
1/20 |
- |
1 |
1-27023571-C-T |
c.677C>T |
p.A226V |
Missense |
1/20 |
- |
2 |
1-27023569-CGCCCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCACTCCGG-C |
c.678_720del |
p.Y229Rfs*120 |
Frameshift |
1/20 |
- |
2 |
1-27023572-C-A |
c.678C>A |
p.A226= |
Synonymous |
1/20 |
- |
1 |
1-27023572-C-G |
c.678C>G |
p.A226= |
Synonymous |
1/20 |
- |
1 |
1-27023572-C-T |
c.678C>T |
p.A226= |
Synonymous |
1/20 |
- |
1 |
1-27023573-C-T |
c.679C>T |
p.P227S |
Missense |
1/20 |
- |
1 |
1-27023572-CCCGGCCTACGCGCTGAGCTCCCCGAGAGGTGGCA-C |
c.680_713del |
p.P227Lfs*125 |
Frameshift |
1/20 |
- |
1 |
1-27023574-C-A |
c.680C>A |
p.P227Q |
Missense |
1/20 |
- |
9 |
1-27023574-CG-AT |
c.680_681delinsAT |
p.P227H |
Missense |
1/20 |
- |
1 |
1-27023574-C-T |
c.680C>T |
p.P227L |
Missense |
1/20 |
- |
2 |
1-27023572-CCCGG-C |
c.681_684del |
p.A228Tfs*3 |
Frameshift |
1/20 |
- |
1 |
1-27023574-C-CG |
c.682dup |
p.A228Gfs*172 |
Frameshift |
1/20 |
- |
1 |
1-27023576-G-C |
c.682G>C |
p.A228P |
Missense |
1/20 |
- |
1 |
1-27023577-C-A |
c.683C>A |
p.A228D |
Missense |
1/20 |
- |
1 |
1-27023577-C-T |
c.683C>T |
p.A228V |
Missense |
1/20 |
- |
3 |
1-27023580-A-C |
c.686A>C |
p.Y229S |
Missense |
1/20 |
- |
1 |
1-27023580-A-G |
c.686A>G |
p.Y229C |
Missense |
1/20 |
- |
3 |
1-27023581-C-A |
c.687C>A |
p.Y229* |
Nonsense |
1/20 |
- |
2 |
1-27023581-C-G |
c.687C>G |
p.Y229* |
Nonsense |
1/20 |
- |
2 |
1-27023582-G-C |
c.688G>C |
p.A230P |
Missense |
1/20 |
- |
1 |
1-27023583-C-T |
c.689C>T |
p.A230V |
Missense |
1/20 |
- |
4 |
1-27023580-ACG-A |
c.690_691del |
p.L231Efs*168 |
Frameshift |
1/20 |
- |
1 |
1-27023585-C-G |
c.691C>G |
p.L231V |
Missense |
1/20 |
- |
3 |
1-27023585-CT-TA |
c.691_692delinsTA |
p.L231* |
Nonsense |
1/20 |
- |
1 |
1-27023585-GCT-G |
c.691_692del |
p.L231Efs*168 |
Frameshift |
1/20 |
- |
2 |
1-27023586-T-C |
c.692T>C |
p.L231P |
Missense |
1/20 |
- |
2 |
1-27023587-G-GT |
c.693_694insT |
p.S232* |
Nonsense |
1/20 |
- |
1 |
1-27023588-AGC-TGA |
c.694_696delinsTGA |
p.S232* |
Nonsense |
1/20 |
- |
1 |
1-27023590-C-A |
c.696C>A |
p.S232R |
Missense |
1/20 |
- |
1 |
1-27023592-C-T |
c.698C>T |
p.S233F |
Missense |
1/20 |
- |
4 |
1-27023593-C-T |
c.699C>T |
p.S233= |
Synonymous |
1/20 |
- |
1 |
1-27023594-CCG-GAC |
c.700_702delinsGAC |
p.P234D |
Missense |
1/20 |
- |
1 |
1-27023594-C-G |
c.700C>G |
p.P234A |
Missense |
1/20 |
- |
1 |
1-27023594-C-T |
c.700C>T |
p.P234S |
Missense |
1/20 |
- |
1 |
1-27023591-TC-T |
c.701del |
p.P234Rfs*129 |
Frameshift |
1/20 |
- |
2 |
1-27023593-CCCGAGAGGTGGCA-C |
c.701_713del |
p.P234Lfs*125 |
Frameshift |
1/20 |
- |
1 |
1-27023595-C-T |
c.701C>T |
p.P234L |
Missense |
1/20 |
- |
3 |
1-27023596-G-A |
c.702G>A |
p.P234= |
Synonymous |
1/20 |
- |
1 |
1-27023597-AGA-TGG |
c.703_705delinsTGG |
p.R235W |
Missense |
1/20 |
- |
1 |
1-27023597-A-T |
c.703A>T |
p.R235* |
Nonsense |
1/20 |
- |
2 |
1-27023598-G-A |
c.704G>A |
p.R235K |
Missense |
1/20 |
- |
1 |
1-27023600-G-A |
c.706G>A |
p.G236S |
Missense |
1/20 |
- |
3 |
1-27023600-GGT-TGG |
c.706_708delinsTGG |
p.G236W |
Missense |
1/20 |
- |
1 |
1-27023601-G-A |
c.707G>A |
p.G236D |
Missense |
1/20 |
- |
1 |
1-27023604-G-A |
c.710G>A |
p.G237D |
Missense |
1/20 |
- |
3 |
1-27023604-G-C |
c.710G>C |
p.G237A |
Missense |
1/20 |
- |
1 |
1-27023605-C-A |
c.711C>A |
p.G237= |
Synonymous |
1/20 |
- |
1 |
1-27023607-C-A |
c.713C>A |
p.T238N |
Missense |
1/20 |
- |
2 |
1-27023607-C-T |
c.713C>T |
p.T238I |
Missense |
1/20 |
- |
1 |
1-27023608-CTCCGGGCTCCGGCGCGGCGGCGGCT-C |
c.714_738del |
p.G240Afs*115 |
Frameshift |
1/20 |
- |
1 |
1-27023609-C-A |
c.715C>A |
p.P239T |
Missense |
1/20 |
- |
2 |
1-27023609-C-G |
c.715C>G |
p.P239A |
Missense |
1/20 |
- |
3 |
1-27023609-C-T |
c.715C>T |
p.P239S |
Missense |
1/20 |
- |
1 |
1-27023608-TC-T |
c.716del |
p.P239Rfs*124 |
Frameshift |
1/20 |
- |
1 |
1-27023610-C-G |
c.716C>G |
p.P239R |
Missense |
1/20 |
- |
1 |
1-27023610-CG-AT |
c.716_717delinsAT |
p.P239H |
Missense |
1/20 |
- |
1 |
1-27023610-C-T |
c.716C>T |
p.P239L |
Missense |
1/20 |
- |
3 |
1-27023611-G-T |
c.717G>T |
p.P239= |
Synonymous |
1/20 |
- |
1 |
1-27023612-GGC-TGA |
c.718_720delinsTGA |
p.G240* |
Nonsense |
1/20 |
- |
2 |
1-27023610-CG-C |
c.719del |
p.G240Afs*123 |
Frameshift |
1/20 |
- |
1 |
1-27023613-G-GC |
c.720dup |
p.S241Lfs*159 |
Frameshift |
1/20 |
- |
1 |
1-27023615-T-A |
c.721T>A |
p.S241T |
Missense |
1/20 |
- |
1 |
1-27023615-T-C |
c.721T>C |
p.S241P |
Missense |
1/20 |
- |
2 |
1-27023616-C-A |
c.722C>A |
p.S241Y |
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 |
- |
2 |
1-27023617-C-A |
c.723C>A |
p.S241= |
Synonymous |
1/20 |
- |
2 |
1-27023617-C-G |
c.723C>G |
p.S241= |
Synonymous |
1/20 |
- |
2 |
1-27023617-C-T |
c.723C>T |
p.S241= |
Synonymous |
1/20 |
- |
2 |
1-27023618-G-C |
c.724G>C |
p.G242R |
Missense |
1/20 |
- |
1 |
1-27023619-G-C |
c.725G>C |
p.G242A |
Missense |
1/20 |
- |
1 |
1-27023621-G-A |
c.727G>A |
p.A243T |
Missense |
1/20 |
- |
2 |
1-27023620-C-CGCA |
c.728_729insAGC |
p.A247dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27023622-C-G |
c.728C>G |
p.A243G |
Missense |
1/20 |
- |
2 |
1-27023624-G-A |
c.730G>A |
p.A244T |
Missense |
1/20 |
- |
2 |
1-27023623-G-GGCA |
c.731_732insAGC |
p.A247dup |
InFrameInsertion |
1/20 |
- |
1 |
1-27023625-C-A |
c.731C>A |
p.A244E |
Missense |
1/20 |
- |
1 |
1-27023625-C-G |
c.731C>G |
p.A244G |
Missense |
1/20 |
- |
2 |
1-27023625-C-T |
c.731C>T |
p.A244V |
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 |
1-27023627-G-T |
c.733G>T |
p.A245S |
Missense |
1/20 |
- |
1 |
1-27023628-C-G |
c.734C>G |
p.A245G |
Missense |
1/20 |
- |
1 |
1-27023628-C-T |
c.734C>T |
p.A245V |
Missense |
1/20 |
- |
2 |
1-27023628-GC-G |
c.734del |
p.A245Gfs*118 |
Frameshift |
1/20 |
- |
1 |
1-27023620-CGCG-C |
c.735_737del |
p.A247del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023624-GCGGCGGCTGC-G |
c.735_744del |
p.A246Pfs*114 |
Frameshift |
1/20 |
- |
1 |
1-27023630-G-A |
c.736G>A |
p.A246T |
Missense |
1/20 |
- |
3 |
1-27023630-G-GC |
c.737dup |
p.A247Cfs*153 |
Frameshift |
1/20 |
- |
1 |
1-27023632-T-C |
c.738T>C |
p.A246= |
Synonymous |
1/20 |
- |
1 |
1-27023633-G-A |
c.739G>A |
p.A247T |
Missense |
1/20 |
- |
2 |
1-27023634-C-G |
c.740C>G |
p.A247G |
Missense |
1/20 |
- |
2 |
1-27023634-C-T |
c.740C>T |
p.A247V |
Missense |
1/20 |
- |
1 |
1-27023635-C-CGCA |
c.742_743insCAG |
p.A247dup |
InFrameInsertion |
1/20 |
- |
2 |
1-27023636-G-C |
c.742G>C |
p.G248R |
Missense |
1/20 |
- |
1 |
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 |
- |
2 |
1-27023637-G-GTTCCAAGCCGC |
c.743_744insTTCCAAGCCGC |
p.S255Rfs*112 |
Frameshift |
1/20 |
- |
1 |
1-27023637-G-T |
c.743G>T |
p.G248V |
Missense |
1/20 |
- |
1 |
1-27023639-CT-C |
c.745del |
p.S249Pfs*114 |
Frameshift |
1/20 |
- |
1 |
1-27023639-T-G |
c.745T>G |
p.S249A |
Missense |
1/20 |
- |
1 |
1-27023640-C-G |
c.746C>G |
p.S249C |
Missense |
1/20 |
- |
3 |
1-27023642-A-C |
c.748A>C |
p.K250Q |
Missense |
1/20 |
- |
1 |
1-27023642-A-G |
c.748A>G |
p.K250E |
Missense |
1/20 |
- |
1 |
1-27023642-A-T |
c.748A>T |
p.K250* |
Nonsense |
1/20 |
- |
1 |
1-27023643-A-G |
c.749A>G |
p.K250R |
Missense |
1/20 |
- |
1 |
1-27023644-AG-A |
c.750del |
p.K250Nfs*113 |
Frameshift |
1/20 |
- |
1 |
1-27023644-G-A |
c.750G>A |
p.K250= |
Synonymous |
1/20 |
- |
1 |
1-27023644-G-C |
c.750G>C |
p.K250N |
Missense |
1/20 |
- |
1 |
1-27023644-G-T |
c.750G>T |
p.K250N |
Missense |
1/20 |
- |
1 |
1-27023645-C-G |
c.751C>G |
p.P251A |
Missense |
1/20 |
- |
1 |
1-27023646-C-T |
c.752C>T |
p.P251L |
Missense |
1/20 |
- |
1 |
1-27023648-C-T |
c.754C>T |
p.P252S |
Missense |
1/20 |
- |
1 |
1-27023649-C-A |
c.755C>A |
p.P252H |
Missense |
1/20 |
- |
1 |
1-27023651-C-G |
c.757C>G |
p.P253A |
Missense |
1/20 |
- |
4 |
1-27023651-C-T |
c.757C>T |
p.P253S |
Missense |
1/20 |
- |
1 |
1-27023652-C-G |
c.758C>G |
p.P253R |
Missense |
1/20 |
- |
2 |
1-27023652-C-T |
c.758C>T |
p.P253L |
Missense |
1/20 |
- |
2 |
1-27023644-GCCGCCTCCCTCCTCCAGCGCCT-G |
c.759_780del |
p.S254Rfs*102 |
Frameshift |
1/20 |
- |
1 |
1-27023654-T-C |
c.760T>C |
p.S254P |
Missense |
1/20 |
- |
1 |
1-27023655-CC-AA |
c.761_762delinsAA |
p.S254* |
Nonsense |
1/20 |
- |
1 |
1-27023655-C-T |
c.761C>T |
p.S254F |
Missense |
1/20 |
- |
1 |
1-27023654-TC-T |
c.762del |
p.S255Pfs*108 |
Frameshift |
1/20 |
- |
1 |
1-27023658-C-A |
c.764C>A |
p.S255Y |
Missense |
1/20 |
- |
1 |
1-27023657-TC-T |
c.765del |
p.S256Afs*107 |
Frameshift |
1/20 |
- |
1 |
1-27023660-AG-GC |
c.766_767delinsGC |
p.S256A |
Missense |
1/20 |
- |
1 |
1-27023660-AG-TT |
c.766_767delinsTT |
p.S256F |
Missense |
1/20 |
- |
1 |
1-27023661-G-A |
c.767G>A |
p.S256N |
Missense |
1/20 |
- |
1 |
1-27023663-G-T |
c.769G>T |
p.A257S |
Missense |
1/20 |
- |
3 |
1-27023664-C-T |
c.770C>T |
p.A257V |
Missense |
1/20 |
- |
3 |
1-27023665-C-A |
c.771C>A |
p.A257= |
Synonymous |
1/20 |
- |
1 |
1-27023665-C-CAT |
c.771_772insAT |
p.S258Ifs*106 |
Frameshift |
1/20 |
- |
1 |
1-27023665-C-T |
c.771C>T |
p.A257= |
Synonymous |
1/20 |
- |
1 |
1-27023666-T-C |
c.772T>C |
p.S258P |
Missense |
1/20 |
- |
1 |
1-27023666-T-G |
c.772T>G |
p.S258A |
Missense |
1/20 |
- |
1 |
1-27023667-C-T |
c.773C>T |
p.S258F |
Missense |
1/20 |
- |
2 |
1-27023668-C-T |
c.774C>T |
p.S258= |
Synonymous |
1/20 |
- |
1 |
1-27023669-G-A |
c.775G>A |
p.A259T |
Missense |
1/20 |
- |
1 |
1-27023669-G-T |
c.775G>T |
p.A259S |
Missense |
1/20 |
- |
1 |
1-27023670-C-A |
c.776C>A |
p.A259D |
Missense |
1/20 |
- |
1 |
1-27023671-C-A |
c.777C>A |
p.A259= |
Synonymous |
1/20 |
- |
1 |
1-27023671-C-G |
c.777C>G |
p.A259= |
Synonymous |
1/20 |
- |
1 |
1-27023671-C-T |
c.777C>T |
p.A259= |
Synonymous |
1/20 |
- |
2 |
1-27023672-T-A |
c.778T>A |
p.S260T |
Missense |
1/20 |
- |
2 |
1-27023672-TC-CT |
c.778_779delinsCT |
p.S260L |
Missense |
1/20 |
- |
1 |
1-27023672-T-G |
c.778T>G |
p.S260A |
Missense |
1/20 |
- |
3 |
1-27023673-C-T |
c.779C>T |
p.S260F |
Missense |
1/20 |
- |
3 |
1-27023669-GCCT-G |
c.780_782del |
p.S265del |
InFrameDeletion |
1/20 |
- |
4 |
1-27023676-C-A |
c.782C>A |
p.S261* |
Nonsense |
1/20 |
- |
7 |
1-27023676-C-G |
c.782C>G |
p.S261W |
Missense |
1/20 |
- |
1 |
1-27023676-C-T |
c.782C>T |
p.S261L |
Missense |
1/20 |
- |
3 |
1-27023676-TCGTCGTCTTC-T |
c.782_791del |
p.S261Cfs*99 |
Frameshift |
1/20 |
- |
1 |
1-27023678-TC-AG |
c.784_785delinsAG |
p.S262R |
Missense |
1/20 |
- |
1 |
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 |
- |
3 |
1-27023679-C-G |
c.785C>G |
p.S262W |
Missense |
1/20 |
- |
1 |
1-27023679-C-T |
c.785C>T |
p.S262L |
Missense |
1/20 |
- |
1 |
1-27023674-CTCG-C |
c.786_788del |
p.S265del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023681-T-A |
c.787T>A |
p.S263T |
Missense |
1/20 |
- |
1 |
1-27023682-C-T |
c.788C>T |
p.S263F |
Missense |
1/20 |
- |
1 |
1-27023683-T-A |
c.789T>A |
p.S263= |
Synonymous |
1/20 |
- |
1 |
1-27023683-T-C |
c.789T>C |
p.S263= |
Synonymous |
1/20 |
- |
2 |
1-27023683-T-G |
c.789T>G |
p.S263= |
Synonymous |
1/20 |
- |
1 |
1-27023685-C-A |
c.791C>A |
p.S264* |
Nonsense |
1/20 |
- |
10 |
1-27023685-C-G |
c.791C>G |
p.S264W |
Missense |
1/20 |
- |
1 |
1-27023685-CG-TT |
c.791_792delinsTT |
p.S264F |
Missense |
1/20 |
- |
1 |
1-27023685-C-T |
c.791C>T |
p.S264L |
Missense |
1/20 |
- |
2 |
1-27023685-TC-T |
c.791del |
p.S264Cfs*99 |
Frameshift |
1/20 |
- |
1 |
1-27023687-TC-AA |
c.793_794delinsAA |
p.S265N |
Missense |
1/20 |
- |
1 |
1-27023688-C-T |
c.794C>T |
p.S265F |
Missense |
1/20 |
- |
4 |
1-27023690-T-C |
c.796T>C |
p.F266L |
Missense |
1/20 |
- |
2 |
1-27023690-TT-GC |
c.796_797delinsGC |
p.F266A |
Missense |
1/20 |
- |
1 |
1-27023692-C-A |
c.798C>A |
p.F266L |
Missense |
1/20 |
- |
2 |
1-27023692-C-G |
c.798C>G |
p.F266L |
Missense |
1/20 |
- |
1 |
1-27023689-CT-C |
c.797del |
p.F266Sfs*97 |
Frameshift |
1/20 |
- |
1 |
1-27023691-TC-AA |
c.797_798delinsAA |
p.F266* |
Nonsense |
1/20 |
- |
1 |
1-27023693-G-A |
c.799G>A |
p.A267T |
Missense |
1/20 |
- |
1 |
1-27023693-G-C |
c.799G>C |
p.A267P |
Missense |
1/20 |
- |
2 |
1-27023695-T-A |
c.801T>A |
p.A267= |
Synonymous |
1/20 |
- |
2 |
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 |
- |
23 |
1-27023697-A-T |
c.803A>T |
p.Q268L |
Missense |
1/20 |
- |
1 |
1-27023698-G-A |
c.804G>A |
p.Q268= |
Synonymous |
1/20 |
- |
1 |
1-27023699-C-T |
c.805C>T |
p.Q269* |
Nonsense |
1/20 |
- |
7 |
1-27023700-A-C |
c.806A>C |
p.Q269P |
Missense |
1/20 |
- |
2 |
1-27023700-A-G |
c.806A>G |
p.Q269R |
Missense |
1/20 |
- |
2 |
1-27023700-A-AG |
c.807dup |
p.R270Afs*130 |
Frameshift |
1/20 |
- |
1 |
1-27023702-CG-AC |
c.808_809delinsAC |
p.R270T |
Missense |
1/20 |
- |
1 |
1-27023702-C-T |
c.808C>T |
p.R270C |
Missense |
1/20 |
- |
3 |
1-27023703-G-A |
c.809G>A |
p.R270H |
Missense |
1/20 |
- |
10 |
1-27023703-GC-AA |
c.809_810delinsAA |
p.R270Q |
Missense |
1/20 |
- |
1 |
1-27023703-G-T |
c.809G>T |
p.R270L |
Missense |
1/20 |
- |
1 |
1-27023704-C-A |
c.810C>A |
p.R270= |
Synonymous |
1/20 |
- |
1 |
1-27023704-C-G |
c.810C>G |
p.R270= |
Synonymous |
1/20 |
- |
1 |
1-27023704-C-T |
c.810C>T |
p.R270= |
Synonymous |
1/20 |
- |
1 |
1-27023705-T-C |
c.811T>C |
p.F271L |
Missense |
1/20 |
- |
1 |
1-27023707-C-A |
c.813C>A |
p.F271L |
Missense |
1/20 |
- |
1 |
1-27023707-C-G |
c.813C>G |
p.F271L |
Missense |
1/20 |
- |
1 |
1-27023707-TC-T |
c.813del |
p.F271Lfs*92 |
Frameshift |
1/20 |
- |
2 |
1-27023708-G-A |
c.814G>A |
p.G272R |
Missense |
1/20 |
- |
1 |
1-27023709-G-C |
c.815G>C |
p.G272A |
Missense |
1/20 |
- |
1 |
1-27023712-C-T |
c.818C>T |
p.A273V |
Missense |
1/20 |
- |
2 |
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 |
1-27023715-AT-A |
c.821del |
p.M274Rfs*89 |
Frameshift |
1/20 |
- |
2 |
1-27023716-G-A |
c.822G>A |
p.M274I |
Missense |
1/20 |
- |
2 |
1-27023717-G-A |
c.823G>A |
p.G275R |
Missense |
1/20 |
- |
2 |
1-27023717-GGG-AGC |
c.823_825delinsAGC |
p.G275S |
Missense |
1/20 |
- |
1 |
1-27023717-GGG-TGT |
c.823_825delinsTGT |
p.G275C |
Missense |
1/20 |
- |
1 |
1-27023718-G-A |
c.824G>A |
p.G275E |
Missense |
1/20 |
- |
1 |
1-27023718-G-C |
c.824G>C |
p.G275A |
Missense |
1/20 |
- |
2 |
1-27023718-GGGGGAGGCGGCCC-G |
c.824_836del |
p.G275Afs*84 |
Frameshift |
1/20 |
- |
1 |
1-27023718-G-T |
c.824G>T |
p.G275V |
Missense |
1/20 |
- |
2 |
1-27023719-GGGGAGGCGGCCCCTCCGCGGCCGGCGGGGGAACTC-G |
c.825_859del |
p.G276Pfs*112 |
Frameshift |
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 |
- |
3 |
1-27023715-TG-T |
c.827del |
p.G276Efs*87 |
Frameshift |
1/20 |
- |
13 |
1-27023715-T-TG |
c.827dup |
p.G277Rfs*123 |
Frameshift |
1/20 |
- |
1 |
1-27023721-G-C |
c.827G>C |
p.G276A |
Missense |
1/20 |
- |
1 |
1-27023721-G-T |
c.827G>T |
p.G276V |
Missense |
1/20 |
- |
1 |
1-27023722-A-C |
c.828A>C |
p.G276= |
Synonymous |
1/20 |
- |
1 |
1-27023722-A-G |
c.828A>G |
p.G276= |
Synonymous |
1/20 |
- |
1 |
1-27023722-A-T |
c.828A>T |
p.G276= |
Synonymous |
1/20 |
- |
1 |
1-27023723-G-C |
c.829G>C |
p.G277R |
Missense |
1/20 |
- |
1 |
1-27023724-G-A |
c.830G>A |
p.G277D |
Missense |
1/20 |
- |
1 |
1-27023724-G-T |
c.830G>T |
p.G277V |
Missense |
1/20 |
- |
1 |
1-27023726-G-A |
c.832G>A |
p.G278S |
Missense |
1/20 |
- |
4 |
1-27023726-G-T |
c.832G>T |
p.G278C |
Missense |
1/20 |
- |
1 |
1-27023727-G-A |
c.833G>A |
p.G278D |
Missense |
1/20 |
- |
2 |
1-27023727-G-T |
c.833G>T |
p.G278V |
Missense |
1/20 |
- |
2 |
1-27023730-C-T |
c.836C>T |
p.P279L |
Missense |
1/20 |
- |
1 |
1-27023732-T-C |
c.838T>C |
p.S280P |
Missense |
1/20 |
- |
2 |
1-27023732-T-G |
c.838T>G |
p.S280A |
Missense |
1/20 |
- |
1 |
1-27023733-C-A |
c.839C>A |
p.S280Y |
Missense |
1/20 |
- |
1 |
1-27023733-CC-AA |
c.839_840delinsAA |
p.S280* |
Nonsense |
1/20 |
- |
2 |
1-27023733-C-T |
c.839C>T |
p.S280F |
Missense |
1/20 |
- |
4 |
1-27023734-C-A |
c.840C>A |
p.S280= |
Synonymous |
1/20 |
- |
2 |
1-27023734-C-G |
c.840C>G |
p.S280= |
Synonymous |
1/20 |
- |
2 |
1-27023734-C-T |
c.840C>T |
p.S280= |
Synonymous |
1/20 |
- |
2 |
1-27023735-G-A |
c.841G>A |
p.A281T |
Missense |
1/20 |
- |
4 |
1-27023735-G-T |
c.841G>T |
p.A281S |
Missense |
1/20 |
- |
2 |
1-27023735-G-GC |
c.842dup |
p.A282Gfs*118 |
Frameshift |
1/20 |
- |
1 |
1-27023737-G-A |
c.843G>A |
p.A281= |
Synonymous |
1/20 |
- |
3 |
1-27023737-G-C |
c.843G>C |
p.A281= |
Synonymous |
1/20 |
- |
1 |
1-27023737-G-T |
c.843G>T |
p.A281= |
Synonymous |
1/20 |
- |
1 |
1-27023736-C-CG |
c.844dup |
p.A282Gfs*118 |
Frameshift |
1/20 |
- |
1 |
1-27023736-CG-C |
c.844del |
p.A282Pfs*81 |
Frameshift |
1/20 |
- |
1 |
1-27023738-G-A |
c.844G>A |
p.A282T |
Missense |
1/20 |
- |
1 |
1-27023738-G-T |
c.844G>T |
p.A282S |
Missense |
1/20 |
- |
1 |
1-27023739-C-T |
c.845C>T |
p.A282V |
Missense |
1/20 |
- |
1 |
1-27023740-C-T |
c.846C>T |
p.A282= |
Synonymous |
1/20 |
- |
1 |
1-27023742-G-A |
c.848G>A |
p.G283D |
Missense |
1/20 |
- |
2 |
1-27023740-CGGCGGG-C |
c.849_854del |
p.G284_G285del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023743-C-A |
c.849C>A |
p.G283= |
Synonymous |
1/20 |
- |
1 |
1-27023743-C-G |
c.849C>G |
p.G283= |
Synonymous |
1/20 |
- |
1 |
1-27023743-C-T |
c.849C>T |
p.G283= |
Synonymous |
1/20 |
- |
1 |
1-27023744-G-A |
c.850G>A |
p.G284R |
Missense |
1/20 |
- |
2 |
1-27023744-G-C |
c.850G>C |
p.G284R |
Missense |
1/20 |
- |
3 |
1-27023745-G-GAAGACT |
c.851_852insAAGACT |
p.G284_G285insRL |
InFrameInsertion |
1/20 |
- |
1 |
1-27023745-G-T |
c.851G>T |
p.G284V |
Missense |
1/20 |
- |
1 |
1-27023746-G-A |
c.852G>A |
p.G284= |
Synonymous |
1/20 |
- |
1 |
1-27023746-G-C |
c.852G>C |
p.G284= |
Synonymous |
1/20 |
- |
1 |
1-27023746-G-T |
c.852G>T |
p.G284= |
Synonymous |
1/20 |
- |
1 |
1-27023743-C-CG |
c.854dup |
p.T286Nfs*114 |
Frameshift |
1/20 |
- |
1 |
1-27023743-CG-C |
c.854del |
p.G285Efs*78 |
Frameshift |
1/20 |
- |
6 |
1-27023749-A-C |
c.855A>C |
p.G285= |
Synonymous |
1/20 |
- |
1 |
1-27023749-A-G |
c.855A>G |
p.G285= |
Synonymous |
1/20 |
- |
2 |
1-27023749-A-T |
c.855A>T |
p.G285= |
Synonymous |
1/20 |
- |
1 |
1-27023750-A-C |
c.856A>C |
p.T286P |
Missense |
1/20 |
- |
2 |
1-27023750-A-G |
c.856A>G |
p.T286A |
Missense |
1/20 |
- |
3 |
1-27023750-A-T |
c.856A>T |
p.T286S |
Missense |
1/20 |
- |
1 |
1-27023751-C-G |
c.857C>G |
p.T286S |
Missense |
1/20 |
- |
1 |
1-27023751-C-T |
c.857C>T |
p.T286I |
Missense |
1/20 |
- |
2 |
1-27023751-C-CT |
c.858dup |
p.P287Sfs*113 |
Frameshift |
1/20 |
- |
1 |
1-27023753-C-T |
c.859C>T |
p.P287S |
Missense |
1/20 |
- |
1 |
1-27023752-TCCCCAGC-T |
c.861_867del |
p.Q288Pfs*73 |
Frameshift |
1/20 |
- |
1 |
1-27023755-C-A |
c.861C>A |
p.P287= |
Synonymous |
1/20 |
- |
1 |
1-27023755-C-G |
c.861C>G |
p.P287= |
Synonymous |
1/20 |
- |
1 |
1-27023755-C-T |
c.861C>T |
p.P287= |
Synonymous |
1/20 |
- |
1 |
1-27023752-TCCCCAGCCCACCGCCACCCCCA-T |
c.862_883del |
p.Q288Sfs*68 |
Frameshift |
1/20 |
- |
1 |
1-27023752-TC-T |
c.862del |
p.Q288Sfs*75 |
Frameshift |
1/20 |
- |
1 |
1-27023756-C-G |
c.862C>G |
p.Q288E |
Missense |
1/20 |
- |
1 |
1-27023756-C-T |
c.862C>T |
p.Q288* |
Nonsense |
1/20 |
- |
7 |
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 |
- |
5 |
1-27023760-C-A |
c.866C>A |
p.P289H |
Missense |
1/20 |
- |
1 |
1-27023760-C-T |
c.866C>T |
p.P289L |
Missense |
1/20 |
- |
3 |
1-27023758-G-GCCCCCCC |
c.867_868insCCCCCCC |
p.T290Pfs*112 |
Frameshift |
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 |
- |
2 |
1-27023762-A-G |
c.868A>G |
p.T290A |
Missense |
1/20 |
- |
2 |
1-27023762-CA-C |
c.868del |
p.T290Pfs*73 |
Frameshift |
1/20 |
- |
1 |
1-27023765-G-A |
c.871G>A |
p.A291T |
Missense |
1/20 |
- |
2 |
1-27023765-G-C |
c.871G>C |
p.A291P |
Missense |
1/20 |
- |
1 |
1-27023765-G-T |
c.871G>T |
p.A291S |
Missense |
1/20 |
- |
1 |
1-27023766-C-A |
c.872C>A |
p.A291D |
Missense |
1/20 |
- |
1 |
1-27023766-C-G |
c.872C>G |
p.A291G |
Missense |
1/20 |
- |
1 |
1-27023766-C-T |
c.872C>T |
p.A291V |
Missense |
1/20 |
- |
1 |
1-27023768-A-C |
c.874A>C |
p.T292P |
Missense |
1/20 |
- |
1 |
1-27023768-A-G |
c.874A>G |
p.T292A |
Missense |
1/20 |
- |
1 |
1-27023768-CA-C |
c.874del |
p.T292Pfs*71 |
Frameshift |
1/20 |
- |
1 |
1-27023768-A-T |
c.874A>T |
p.T292S |
Missense |
1/20 |
- |
1 |
1-27023769-C-G |
c.875C>G |
p.T292S |
Missense |
1/20 |
- |
1 |
1-27023769-C-T |
c.875C>T |
p.T292I |
Missense |
1/20 |
- |
2 |
1-27023770-C-A |
c.876C>A |
p.T292= |
Synonymous |
1/20 |
- |
1 |
1-27023770-C-G |
c.876C>G |
p.T292= |
Synonymous |
1/20 |
- |
1 |
1-27023770-C-T |
c.876C>T |
p.T292= |
Synonymous |
1/20 |
- |
1 |
1-27023771-C-A |
c.877C>A |
p.P293T |
Missense |
1/20 |
- |
1 |
1-27023772-C-T |
c.878C>T |
p.P293L |
Missense |
1/20 |
- |
2 |
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 |
- |
1 |
1-27023774-A-C |
c.880A>C |
p.T294P |
Missense |
1/20 |
- |
4 |
1-27023774-A-G |
c.880A>G |
p.T294A |
Missense |
1/20 |
- |
2 |
1-27023774-A-AC |
c.883dup |
p.L295Pfs*105 |
Frameshift |
1/20 |
- |
1 |
1-27023777-C-A |
c.883C>A |
p.L295I |
Missense |
1/20 |
- |
1 |
1-27023778-T-C |
c.884T>C |
p.L295P |
Missense |
1/20 |
- |
1 |
1-27023779-TC-T |
c.885del |
p.N296Tfs*67 |
Frameshift |
1/20 |
- |
1 |
1-27023778-TCAACCAA-T |
c.886_892del |
p.N296Cfs*65 |
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 |
1-27023784-A-C |
c.890A>C |
p.Q297P |
Missense |
1/20 |
- |
1 |
1-27023785-A-C |
c.891A>C |
p.Q297H |
Missense |
1/20 |
- |
2 |
1-27023785-A-T |
c.891A>T |
p.Q297H |
Missense |
1/20 |
- |
1 |
1-27023786-C-T |
c.892C>T |
p.L298= |
Synonymous |
1/20 |
- |
1 |
1-27023787-T-A |
c.893T>A |
p.L298Q |
Missense |
1/20 |
- |
1 |
1-27023787-T-G |
c.893T>G |
p.L298R |
Missense |
1/20 |
- |
1 |
1-27023788-G-C |
c.894G>C |
p.L298= |
Synonymous |
1/20 |
- |
1 |
1-27023789-C-A |
c.895C>A |
p.L299I |
Missense |
1/20 |
- |
1 |
1-27023789-C-T |
c.895C>T |
p.L299F |
Missense |
1/20 |
- |
1 |
1-27023792-A-G |
c.898A>G |
p.T300A |
Missense |
1/20 |
- |
1 |
1-27023792-A-T |
c.898A>T |
p.T300S |
Missense |
1/20 |
- |
1 |
1-27023795-T-A |
c.901T>A |
p.S301T |
Missense |
1/20 |
- |
1 |
1-27023796-C-A |
c.902C>A |
p.S301* |
Nonsense |
1/20 |
- |
2 |
1-27023796-TC-T |
c.902del |
p.S301Cfs*62 |
Frameshift |
1/20 |
- |
1 |
1-27023797-G-A |
c.903G>A |
p.S301= |
Synonymous |
1/20 |
- |
3 |
1-27023797-G-C |
c.903G>C |
p.S301= |
Synonymous |
1/20 |
- |
3 |
1-27023797-G-T |
c.903G>T |
p.S301= |
Synonymous |
1/20 |
- |
3 |
1-27023798-C-A |
c.904C>A |
p.P302T |
Missense |
1/20 |
- |
1 |
1-27023798-C-T |
c.904C>T |
p.P302S |
Missense |
1/20 |
- |
1 |
1-27023799-C-T |
c.905C>T |
p.P302L |
Missense |
1/20 |
- |
1 |
1-27023800-C-A |
c.906C>A |
p.P302= |
Synonymous |
1/20 |
- |
2 |
1-27023801-AG-TT |
c.907_908delinsTT |
p.S303F |
Missense |
1/20 |
- |
1 |
1-27023802-G-C |
c.908G>C |
p.S303T |
Missense |
1/20 |
- |
5 |
1-27023802-G-T |
c.908G>T |
p.S303I |
Missense |
1/20 |
- |
1 |
1-27023801-A-C |
c.907A>C |
p.S303R |
Missense |
1/20 |
- |
1 |
1-27023803-C-A |
c.909C>A |
p.S303R |
Missense |
1/20 |
- |
1 |
1-27023803-C-G |
c.909C>G |
p.S303R |
Missense |
1/20 |
- |
1 |
1-27023804-T-C |
c.910T>C |
p.S304P |
Missense |
1/20 |
- |
1 |
1-27023805-C-A |
c.911C>A |
p.S304* |
Nonsense |
1/20 |
- |
3 |
1-27023805-CG-TT |
c.911_912delinsTT |
p.S304F |
Missense |
1/20 |
- |
1 |
1-27023805-C-T |
c.911C>T |
p.S304L |
Missense |
1/20 |
- |
2 |
1-27023808-C-A |
c.914C>A |
p.A305D |
Missense |
1/20 |
- |
1 |
1-27023808-C-T |
c.914C>T |
p.A305V |
Missense |
1/20 |
- |
2 |
1-27023810-C-A |
c.916C>A |
p.R306= |
Synonymous |
1/20 |
- |
1 |
1-27023810-CG-TA |
c.916_917delinsTA |
p.R306* |
Nonsense |
1/20 |
- |
3 |
1-27023810-C-T |
c.916C>T |
p.R306W |
Missense |
1/20 |
- |
7 |
1-27023812-G-A |
c.918G>A |
p.R306= |
Synonymous |
1/20 |
- |
1 |
1-27023812-G-C |
c.918G>C |
p.R306= |
Synonymous |
1/20 |
- |
1 |
1-27023812-G-T |
c.918G>T |
p.R306= |
Synonymous |
1/20 |
- |
2 |
1-27023808-CCCGGGGCTA-C |
c.917_925del |
p.R306_Y308del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023811-GG-AT |
c.917_918delinsAT |
p.R306H |
Missense |
1/20 |
- |
2 |
1-27023813-GGGCTACCAGGGC-G |
c.919_930del |
p.G307_G310del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023814-G-A |
c.920G>A |
p.G307D |
Missense |
1/20 |
- |
1 |
1-27023807-GCCCGGGGCTACCAGGGCTAC-G |
c.921_940del |
p.Y308Rfs*85 |
Frameshift |
1/20 |
- |
5 |
1-27023815-C-CT |
c.922dup |
p.Y308Lfs*92 |
Frameshift |
1/20 |
- |
1 |
1-27023816-T-C |
c.922T>C |
p.Y308H |
Missense |
1/20 |
- |
1 |
1-27023817-A-G |
c.923A>G |
p.Y308C |
Missense |
1/20 |
- |
1 |
1-27023818-C-A |
c.924C>A |
p.Y308* |
Nonsense |
1/20 |
- |
2 |
1-27023818-C-G |
c.924C>G |
p.Y308* |
Nonsense |
1/20 |
- |
2 |
1-27023819-C-A |
c.925C>A |
p.Q309K |
Missense |
1/20 |
- |
1 |
1-27023819-C-G |
c.925C>G |
p.Q309E |
Missense |
1/20 |
- |
1 |
1-27023819-C-T |
c.925C>T |
p.Q309* |
Nonsense |
1/20 |
- |
6 |
1-27023820-A-G |
c.926A>G |
p.Q309R |
Missense |
1/20 |
- |
1 |
1-27023821-G-C |
c.927G>C |
p.Q309H |
Missense |
1/20 |
- |
2 |
1-27023821-G-T |
c.927G>T |
p.Q309H |
Missense |
1/20 |
- |
2 |
1-27023822-G-A |
c.928G>A |
p.G310S |
Missense |
1/20 |
- |
1 |
1-27023822-G-C |
c.928G>C |
p.G310R |
Missense |
1/20 |
- |
1 |
1-27023820-AG-A |
c.929del |
p.G310Afs*53 |
Frameshift |
1/20 |
- |
1 |
1-27023823-G-A |
c.929G>A |
p.G310D |
Missense |
1/20 |
- |
1 |
1-27023823-G-C |
c.929G>C |
p.G310A |
Missense |
1/20 |
- |
1 |
1-27023823-GC-AG |
c.929_930delinsAG |
p.G310E |
Missense |
1/20 |
- |
2 |
1-27023825-T-A |
c.931T>A |
p.Y311N |
Missense |
1/20 |
- |
1 |
1-27023828-C-T |
c.934C>T |
p.P312S |
Missense |
1/20 |
- |
1 |
1-27023830-C-T |
c.936C>T |
p.P312= |
Synonymous |
1/20 |
- |
1 |
1-27023831-G-A |
c.937G>A |
p.G313R |
Missense |
1/20 |
- |
2 |
1-27023831-GGG-AGC |
c.937_939delinsAGC |
p.G313S |
Missense |
1/20 |
- |
1 |
1-27023831-GGG-TGT |
c.937_939delinsTGT |
p.G313C |
Missense |
1/20 |
- |
1 |
1-27023832-G-A |
c.938G>A |
p.G313E |
Missense |
1/20 |
- |
1 |
1-27023834-G-A |
c.940G>A |
p.G314S |
Missense |
1/20 |
- |
1 |
1-27023834-G-C |
c.940G>C |
p.G314R |
Missense |
1/20 |
- |
2 |
1-27023830-C-CG |
c.941dup |
p.D315Rfs*85 |
Frameshift |
1/20 |
- |
2 |
1-27023830-CG-C |
c.941del |
p.G314Afs*49 |
Frameshift |
1/20 |
- |
4 |
1-27023835-G-T |
c.941G>T |
p.G314V |
Missense |
1/20 |
- |
1 |
1-27023836-C-A |
c.942C>A |
p.G314= |
Synonymous |
1/20 |
- |
1 |
1-27023836-C-CA |
c.942_943insA |
p.D315Rfs*85 |
Frameshift |
1/20 |
- |
1 |
1-27023837-G-A |
c.943G>A |
p.D315N |
Missense |
1/20 |
- |
1 |
1-27023829-CCGGGGGCGACTACAGTGGCGGGCCCCAGGA-C |
c.944_973del |
p.D315_G324del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023838-A-C |
c.944A>C |
p.D315A |
Missense |
1/20 |
- |
1 |
1-27023840-T-C |
c.946T>C |
p.Y316H |
Missense |
1/20 |
- |
1 |
1-27023841-A-G |
c.947A>G |
p.Y316C |
Missense |
1/20 |
- |
1 |
1-27023842-C-A |
c.948C>A |
p.Y316* |
Nonsense |
1/20 |
- |
1 |
1-27023842-C-G |
c.948C>G |
p.Y316* |
Nonsense |
1/20 |
- |
1 |
1-27023842-C-T |
c.948C>T |
p.Y316= |
Synonymous |
1/20 |
- |
1 |
1-27023843-A-G |
c.949A>G |
p.S317G |
Missense |
1/20 |
- |
7 |
1-27023843-AG-TT |
c.949_950delinsTT |
p.S317F |
Missense |
1/20 |
- |
1 |
1-27023843-A-T |
c.949A>T |
p.S317C |
Missense |
1/20 |
- |
1 |
1-27023844-G-A |
c.950G>A |
p.S317N |
Missense |
1/20 |
- |
3 |
1-27023845-T-C |
c.951T>C |
p.S317= |
Synonymous |
1/20 |
- |
2 |
1-27023847-G-C |
c.953G>C |
p.G318A |
Missense |
1/20 |
- |
1 |
1-27023847-G-T |
c.953G>T |
p.G318V |
Missense |
1/20 |
- |
1 |
1-27023849-G-A |
c.955G>A |
p.G319R |
Missense |
1/20 |
- |
4 |
1-27023849-G-C |
c.955G>C |
p.G319R |
Missense |
1/20 |
- |
1 |
1-27023849-G-T |
c.955G>T |
p.G319W |
Missense |
1/20 |
- |
2 |
1-27023850-G-T |
c.956G>T |
p.G319V |
Missense |
1/20 |
- |
1 |
1-27023852-C-G |
c.958C>G |
p.P320A |
Missense |
1/20 |
- |
1 |
1-27023852-C-T |
c.958C>T |
p.P320S |
Missense |
1/20 |
- |
2 |
1-27023853-C-T |
c.959C>T |
p.P320L |
Missense |
1/20 |
- |
1 |
1-27023855-C-G |
c.961C>G |
p.Q321E |
Missense |
1/20 |
- |
3 |
1-27023855-C-T |
c.961C>T |
p.Q321* |
Nonsense |
1/20 |
- |
6 |
1-27023856-A-C |
c.962A>C |
p.Q321P |
Missense |
1/20 |
- |
3 |
1-27023859-A-C |
c.965A>C |
p.D322A |
Missense |
1/20 |
- |
1 |
1-27023859-A-G |
c.965A>G |
p.D322G |
Missense |
1/20 |
- |
2 |
1-27023860-C-A |
c.966C>A |
p.D322E |
Missense |
1/20 |
- |
1 |
1-27023860-C-G |
c.966C>G |
p.D322E |
Missense |
1/20 |
- |
1 |
1-27023860-C-T |
c.966C>T |
p.D322= |
Synonymous |
1/20 |
- |
1 |
1-27023861-GGG-AGC |
c.967_969delinsAGC |
p.G323S |
Missense |
1/20 |
- |
1 |
1-27023861-G-T |
c.967G>T |
p.G323W |
Missense |
1/20 |
- |
1 |
1-27023860-CGGGGGCGCCGGCAA-C |
c.970_983del |
p.G324Pfs*71 |
Frameshift |
1/20 |
- |
1 |
1-27023864-G-T |
c.970G>T |
p.G324C |
Missense |
1/20 |
- |
1 |
1-27023860-C-CG |
c.971dup |
p.A325Rfs*75 |
Frameshift |
1/20 |
- |
1 |
1-27023860-CG-C |
c.971del |
p.G324Afs*39 |
Frameshift |
1/20 |
- |
3 |
1-27023862-GGGGCGCC-G |
c.971_977del |
p.G324Afs*37 |
Frameshift |
1/20 |
- |
1 |
1-27023865-G-T |
c.971G>T |
p.G324V |
Missense |
1/20 |
- |
1 |
1-27023866-C-A |
c.972C>A |
p.G324= |
Synonymous |
1/20 |
- |
1 |
1-27023866-C-G |
c.972C>G |
p.G324= |
Synonymous |
1/20 |
- |
1 |
1-27023866-C-T |
c.972C>T |
p.G324= |
Synonymous |
1/20 |
- |
1 |
1-27023864-GGC-G |
c.973_974del |
p.A325Rfs*74 |
Frameshift |
1/20 |
- |
1 |
1-27023867-G-A |
c.973G>A |
p.A325T |
Missense |
1/20 |
- |
2 |
1-27023867-G-T |
c.973G>T |
p.A325S |
Missense |
1/20 |
- |
1 |
1-27023868-C-T |
c.974C>T |
p.A325V |
Missense |
1/20 |
- |
1 |
1-27023869-C-G |
c.975C>G |
p.A325= |
Synonymous |
1/20 |
- |
1 |
1-27023870-G-A |
c.976G>A |
p.G326S |
Missense |
1/20 |
- |
2 |
1-27023870-GGC-TGA |
c.976_978delinsTGA |
p.G326* |
Nonsense |
1/20 |
- |
1 |
1-27023871-G-A |
c.977G>A |
p.G326D |
Missense |
1/20 |
- |
2 |
1-27023872-C-CT |
c.978_979insT |
p.K327* |
Nonsense |
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 |
1-27023875-G-A |
c.981G>A |
p.K327= |
Synonymous |
1/20 |
- |
1 |
1-27023876-G-A |
c.982G>A |
p.G328S |
Missense |
1/20 |
- |
1 |
1-27023877-G-A |
c.983G>A |
p.G328D |
Missense |
1/20 |
- |
1 |
1-27023879-C-A |
c.985C>A |
p.P329T |
Missense |
1/20 |
- |
1 |
1-27023879-C-T |
c.985C>T |
p.P329S |
Missense |
1/20 |
- |
1 |
1-27023880-C-G |
c.986C>G |
p.P329R |
Missense |
1/20 |
- |
3 |
1-27023882-G-C |
c.988G>C |
p.A330P |
Missense |
1/20 |
- |
1 |
1-27023883-C-T |
c.989C>T |
p.A330V |
Missense |
1/20 |
- |
1 |
1-27023885-G-A |
c.991G>A |
p.D331N |
Missense |
1/20 |
- |
2 |
1-27023885-G-T |
c.991G>T |
p.D331Y |
Missense |
1/20 |
- |
1 |
1-27023886-A-C |
c.992A>C |
p.D331A |
Missense |
1/20 |
- |
1 |
1-27023888-A-G |
c.994A>G |
p.M332V |
Missense |
1/20 |
- |
1 |
1-27023889-T-C |
c.995T>C |
p.M332T |
Missense |
1/20 |
- |
1 |
1-27023890-G-A |
c.996G>A |
p.M332I |
Missense |
1/20 |
- |
1 |
1-27023890-G-C |
c.996G>C |
p.M332I |
Missense |
1/20 |
- |
1 |
1-27023890-G-T |
c.996G>T |
p.M332I |
Missense |
1/20 |
- |
1 |
1-27023889-TG-T |
c.997del |
p.A333Pfs*30 |
Frameshift |
1/20 |
- |
1 |
1-27023891-GCC-ATG |
c.997_999delinsATG |
p.A333M |
Missense |
1/20 |
- |
1 |
1-27023895-C-A |
c.1001C>A |
p.S334* |
Nonsense |
1/20 |
- |
5 |
1-27023895-C-G |
c.1001C>G |
p.S334W |
Missense |
1/20 |
- |
3 |
1-27023895-C-T |
c.1001C>T |
p.S334L |
Missense |
1/20 |
- |
6 |
1-27023897-C-A |
c.1003C>A |
p.Q335K |
Missense |
1/20 |
- |
1 |
1-27023897-C-T |
c.1003C>T |
p.Q335* |
Nonsense |
1/20 |
- |
9 |
1-27023899-G-C |
c.1005G>C |
p.Q335H |
Missense |
1/20 |
- |
2 |
1-27023901-G-A |
c.1007G>A |
p.C336Y |
Missense |
1/20 |
- |
1 |
1-27023901-G-T |
c.1007G>T |
p.C336F |
Missense |
1/20 |
- |
1 |
1-27023902-T-A |
c.1008T>A |
p.C336* |
Nonsense |
1/20 |
- |
1 |
1-27023902-T-C |
c.1008T>C |
p.C336= |
Synonymous |
1/20 |
- |
3 |
1-27023904-G-A |
c.1010G>A |
p.W337* |
Nonsense |
1/20 |
- |
5 |
1-27023905-G-A |
c.1011G>A |
p.W337* |
Nonsense |
1/20 |
- |
6 |
1-27023907-G-A |
c.1013G>A |
p.G338E |
Missense |
1/20 |
- |
1 |
1-27023907-G-C |
c.1013G>C |
p.G338A |
Missense |
1/20 |
- |
1 |
1-27023907-G-T |
c.1013G>T |
p.G338V |
Missense |
1/20 |
- |
1 |
1-27023903-TG-T |
c.1015del |
p.A339Lfs*24 |
Frameshift |
1/20 |
- |
7 |
1-27023903-T-TG |
c.1015dup |
p.A339Gfs*61 |
Frameshift |
1/20 |
- |
5 |
1-27023909-G-A |
c.1015G>A |
p.A339T |
Missense |
1/20 |
- |
1 |
1-27023909-GC-CT |
c.1015_1016delinsCT |
p.A339L |
Missense |
1/20 |
- |
1 |
1-27023910-C-G |
c.1016C>G |
p.A339G |
Missense |
1/20 |
- |
1 |
1-27023910-C-T |
c.1016C>T |
p.A339V |
Missense |
1/20 |
- |
1 |
1-27023910-GC-G |
c.1016del |
p.A339Vfs*24 |
Frameshift |
1/20 |
- |
1 |
1-27023913-C-A |
c.1019C>A |
p.A340E |
Missense |
1/20 |
- |
1 |
1-27023913-C-T |
c.1019C>T |
p.A340V |
Missense |
1/20 |
- |
1 |
1-27023915-G-A |
c.1021G>A |
p.A341T |
Missense |
1/20 |
- |
1 |
1-27023916-C-T |
c.1022C>T |
p.A341V |
Missense |
1/20 |
- |
1 |
1-27023917-G-C |
c.1023G>C |
p.A341= |
Synonymous |
1/20 |
- |
1 |
1-27023918-G-A |
c.1024G>A |
p.A342T |
Missense |
1/20 |
- |
2 |
1-27023918-G-T |
c.1024G>T |
p.A342S |
Missense |
1/20 |
- |
1 |
1-27023919-C-T |
c.1025C>T |
p.A342V |
Missense |
1/20 |
- |
3 |
1-27023911-TGCGGCGGCGGCAGCTGCG-T |
c.1026_1043del |
p.A344_A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023921-G-A |
c.1027G>A |
p.A343T |
Missense |
1/20 |
- |
1 |
1-27023921-G-C |
c.1027G>C |
p.A343P |
Missense |
1/20 |
- |
1 |
1-27023921-G-T |
c.1027G>T |
p.A343S |
Missense |
1/20 |
- |
1 |
1-27023922-C-G |
c.1028C>G |
p.A343G |
Missense |
1/20 |
- |
1 |
1-27023922-C-T |
c.1028C>T |
p.A343V |
Missense |
1/20 |
- |
2 |
1-27023908-GGCTGCGGCGGCGGCA-G |
c.1029_1043del |
p.A345_A349del |
InFrameDeletion |
1/20 |
- |
5 |
1-27023920-GGCA-G |
c.1029_1031del |
p.A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023923-A-C |
c.1029A>C |
p.A343= |
Synonymous |
1/20 |
- |
1 |
1-27023923-A-G |
c.1029A>G |
p.A343= |
Synonymous |
1/20 |
- |
2 |
1-27023923-A-T |
c.1029A>T |
p.A343= |
Synonymous |
1/20 |
- |
1 |
1-27023924-G-A |
c.1030G>A |
p.A344T |
Missense |
1/20 |
- |
4 |
1-27023923-AGCTGCGGCGGC-A |
c.1031_1041del |
p.A344Gfs*52 |
Frameshift |
1/20 |
- |
1 |
1-27023925-C-G |
c.1031C>G |
p.A344G |
Missense |
1/20 |
- |
1 |
1-27023925-C-T |
c.1031C>T |
p.A344V |
Missense |
1/20 |
- |
1 |
1-27023925-CT-AG |
c.1031_1032inv |
p.A344E |
Missense |
1/20 |
- |
1 |
1-27023923-AGCTGCGGCG-A |
c.1032_1040del |
p.A347_A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023923-AGCTGCGGCGGCG-A |
c.1032_1043del |
p.A346_A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023923-AGCTGCGGCGGCGGCC-A |
c.1032_1046del |
p.A345_A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023926-T-G |
c.1032T>G |
p.A344= |
Synonymous |
1/20 |
- |
1 |
1-27023927-G-A |
c.1033G>A |
p.A345T |
Missense |
1/20 |
- |
3 |
1-27023927-TGCGGCGGCGGCCGCC-T |
c.1033_1047del |
p.A345_A349del |
InFrameDeletion |
1/20 |
- |
3 |
1-27023927-G-GC |
c.1034dup |
p.A346Gfs*54 |
Frameshift |
1/20 |
- |
1 |
1-27023929-G-GT |
c.1035_1036insT |
p.A346Cfs*54 |
Frameshift |
1/20 |
- |
1 |
1-27023930-G-A |
c.1036G>A |
p.A346T |
Missense |
1/20 |
- |
1 |
1-27023931-C-T |
c.1037C>T |
p.A346V |
Missense |
1/20 |
- |
1 |
1-27023931-GCGGCGGCCGCC-G |
c.1037_1047del |
p.A346Vfs*50 |
Frameshift |
1/20 |
- |
1 |
1-27023933-G-A |
c.1039G>A |
p.A347T |
Missense |
1/20 |
- |
5 |
1-27023933-G-C |
c.1039G>C |
p.A347P |
Missense |
1/20 |
- |
1 |
1-27023933-G-GA |
c.1039_1040insA |
p.A347Dfs*53 |
Frameshift |
1/20 |
- |
1 |
1-27023932-G-GGCA |
c.1040_1041insAGC |
p.A349dup |
InFrameInsertion |
1/20 |
- |
3 |
1-27023934-C-A |
c.1040C>A |
p.A347E |
Missense |
1/20 |
- |
1 |
1-27023934-C-T |
c.1040C>T |
p.A347V |
Missense |
1/20 |
- |
2 |
1-27023926-TGCG-T |
c.1041_1043del |
p.A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023935-G-C |
c.1041G>C |
p.A347= |
Synonymous |
1/20 |
- |
1 |
1-27023934-CG-C |
c.1042del |
p.A348Pfs*15 |
Frameshift |
1/20 |
- |
1 |
1-27023936-G-A |
c.1042G>A |
p.A348T |
Missense |
1/20 |
- |
1 |
1-27023936-G-C |
c.1042G>C |
p.A348P |
Missense |
1/20 |
- |
1 |
1-27023938-C-A |
c.1044C>A |
p.A348= |
Synonymous |
1/20 |
- |
1 |
1-27023938-C-G |
c.1044C>G |
p.A348= |
Synonymous |
1/20 |
- |
1 |
1-27023938-C-T |
c.1044C>T |
p.A348= |
Synonymous |
1/20 |
- |
1 |
1-27023935-GGCC-G |
c.1045_1047del |
p.A349del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023939-G-A |
c.1045G>A |
p.A349T |
Missense |
1/20 |
- |
1 |
1-27023939-G-T |
c.1045G>T |
p.A349S |
Missense |
1/20 |
- |
1 |
1-27023940-C-T |
c.1046C>T |
p.A349V |
Missense |
1/20 |
- |
4 |
1-27023942-T-C |
c.1048T>C |
p.S350P |
Missense |
1/20 |
- |
1 |
1-27023943-C-A |
c.1049C>A |
p.S350* |
Nonsense |
1/20 |
- |
2 |
1-27023944-G-A |
c.1050G>A |
p.S350= |
Synonymous |
1/20 |
- |
1 |
1-27023944-G-C |
c.1050G>C |
p.S350= |
Synonymous |
1/20 |
- |
1 |
1-27023944-G-T |
c.1050G>T |
p.S350= |
Synonymous |
1/20 |
- |
1 |
1-27023945-G-A |
c.1051G>A |
p.G351R |
Missense |
1/20 |
- |
1 |
1-27023945-G-C |
c.1051G>C |
p.G351R |
Missense |
1/20 |
- |
1 |
1-27023943-CG-C |
c.1052del |
p.G351Efs*12 |
Frameshift |
1/20 |
- |
1 |
1-27023946-G-A |
c.1052G>A |
p.G351E |
Missense |
1/20 |
- |
1 |
1-27023944-GGGAGGGGCCCAACAAA-G |
c.1055_1070del |
p.G352Afs*6 |
Frameshift |
1/20 |
- |
3 |
1-27023949-G-A |
c.1055G>A |
p.G352E |
Missense |
1/20 |
- |
2 |
1-27023949-G-C |
c.1055G>C |
p.G352A |
Missense |
1/20 |
- |
2 |
1-27023950-G-A |
c.1056G>A |
p.G352= |
Synonymous |
1/20 |
- |
1 |
1-27023950-G-C |
c.1056G>C |
p.G352= |
Synonymous |
1/20 |
- |
2 |
1-27023950-G-T |
c.1056G>T |
p.G352= |
Synonymous |
1/20 |
- |
1 |
1-27023947-AG-A |
c.1057del |
p.A353Pfs*10 |
Frameshift |
1/20 |
- |
1 |
1-27023951-G-T |
c.1057G>T |
p.A353S |
Missense |
1/20 |
- |
3 |
1-27023952-C-G |
c.1058C>G |
p.A353G |
Missense |
1/20 |
- |
1 |
1-27023952-C-T |
c.1058C>T |
p.A353V |
Missense |
1/20 |
- |
1 |
1-27023951-GC-G |
c.1060del |
p.Q354Nfs*9 |
Frameshift |
1/20 |
- |
1 |
1-27023954-C-T |
c.1060C>T |
p.Q354* |
Nonsense |
1/20 |
- |
6 |
1-27023957-C-T |
c.1063C>T |
p.Q355* |
Nonsense |
1/20 |
- |
3 |
1-27023959-A-AT |
c.1065_1066insT |
p.R356* |
Nonsense |
1/20 |
- |
1 |
1-27023960-AAG-A |
c.1066_1067del |
p.R356Efs*43 |
Frameshift |
1/20 |
- |
1 |
1-27023961-G-A |
c.1067G>A |
p.R356K |
Missense |
1/20 |
- |
3 |
1-27023962-G-C |
c.1068G>C |
p.R356S |
Missense |
1/20 |
- |
1 |
1-27023962-G-T |
c.1068G>T |
p.R356S |
Missense |
1/20 |
- |
2 |
1-27023963-AGC-TGA |
c.1069_1071delinsTGA |
p.S357* |
Nonsense |
1/20 |
- |
1 |
1-27023962-GAGCC-G |
c.1070_1073del |
p.S357Tfs*5 |
Frameshift |
1/20 |
- |
1 |
1-27023964-G-A |
c.1070G>A |
p.S357N |
Missense |
1/20 |
- |
2 |
1-27023966-C-T |
c.1072C>T |
p.H358Y |
Missense |
1/20 |
- |
1 |
1-27023967-A-C |
c.1073A>C |
p.H358P |
Missense |
1/20 |
- |
1 |
1-27023967-AC-A |
c.1075del |
p.H359Tfs*4 |
Frameshift |
1/20 |
- |
1 |
1-27023969-C-A |
c.1075C>A |
p.H359N |
Missense |
1/20 |
- |
1 |
1-27023969-C-T |
c.1075C>T |
p.H359Y |
Missense |
1/20 |
- |
6 |
1-27023968-CCA-C |
c.1076_1077del |
p.H359Rfs*40 |
Frameshift |
1/20 |
- |
1 |
1-27023970-A-C |
c.1076A>C |
p.H359P |
Missense |
1/20 |
- |
1 |
1-27023970-A-G |
c.1076A>G |
p.H359R |
Missense |
1/20 |
- |
1 |
1-27023967-ACCACGCGC-A |
c.1077_1084del |
p.A360Efs*37 |
Frameshift |
1/20 |
- |
1 |
1-27023971-CGCGCCCAT-C |
c.1079_1086del |
p.A360Efs*37 |
Frameshift |
1/20 |
- |
1 |
1-27023973-C-T |
c.1079C>T |
p.A360V |
Missense |
1/20 |
- |
1 |
1-27023975-C-T |
c.1081C>T |
p.P361S |
Missense |
1/20 |
- |
2 |
1-27023976-CC-AA |
c.1082_1083delinsAA |
p.P361Q |
Missense |
1/20 |
- |
1 |
1-27023976-C-T |
c.1082C>T |
p.P361L |
Missense |
1/20 |
- |
1 |
1-27023980-G-A |
c.1086G>A |
p.M362I |
Missense |
1/20 |
- |
2 |
1-27023980-G-C |
c.1086G>C |
p.M362I |
Missense |
1/20 |
- |
1 |
1-27023980-G-T |
c.1086G>T |
p.M362I |
Missense |
1/20 |
- |
3 |
1-27023981-AG-TT |
c.1087_1088delinsTT |
p.S363F |
Missense |
1/20 |
- |
2 |
1-27023983-C-T |
c.1089C>T |
p.S363= |
Synonymous |
1/20 |
- |
1 |
1-27023984-C-G |
c.1090C>G |
p.P364A |
Missense |
1/20 |
- |
1 |
1-27023984-C-T |
c.1090C>T |
p.P364S |
Missense |
1/20 |
- |
2 |
1-27023982-GC-G |
c.1092del |
p.S366Afs*25 |
Frameshift |
1/20 |
- |
2 |
1-27023988-G-A |
c.1094G>A |
p.G365E |
Missense |
1/20 |
- |
3 |
1-27023988-G-C |
c.1094G>C |
p.G365A |
Missense |
1/20 |
- |
1 |
1-27023988-GG-AC |
c.1094_1095delinsAC |
p.G365D |
Missense |
1/20 |
- |
1 |
1-27023989-G-GT |
c.1095_1096insT |
p.S366* |
Nonsense |
1/20 |
- |
1 |
1-27023991-G-A |
c.1097G>A |
p.S366N |
Missense |
1/20 |
- |
2 |
1-27023992-C-T |
c.1098C>T |
p.S366= |
Synonymous |
1/20 |
- |
2 |
1-27023989-GAGC-G |
c.1099_1101del |
p.S367del |
InFrameDeletion |
1/20 |
- |
1 |
1-27023996-GGC-TGG |
c.1102_1104delinsTGG |
p.G368W |
Missense |
1/20 |
- |
1 |
1-27023997-G-A |
c.1103G>A |
p.G368D |
Missense |
1/20 |
- |
1 |
1-27023999-G-C |
c.1105G>C |
p.G369R |
Missense |
1/20 |
- |
1 |
1-27024001-C-G |
c.1107C>G |
p.G369= |
Synonymous |
1/20 |
- |
1 |
1-27024001-C-T |
c.1107C>T |
p.G369= |
Synonymous |
1/20 |
- |
1 |
1-27024002-G-A |
c.1108G>A |
p.G370R |
Missense |
1/20 |
- |
1 |
1-27024002-GGG-AGC |
c.1108_1110delinsAGC |
p.G370S |
Missense |
1/20 |
- |
2 |
1-27024002-GGG-TGT |
c.1108_1110delinsTGT |
p.G370C |
Missense |
1/20 |
- |
1 |
1-27024002-G-GGC |
c.1109_1110insCG |
p.Q372Gfs*20 |
Frameshift |
1/20 |
- |
1 |
1-27024006-G-GCCT |
c.1112_1113insCCT |
p.G371_Q372insL |
InFrameInsertion |
1/20 |
- |
1 |
1-27024001-C-CG |
c.1113dup |
p.Q372Afs*28 |
Frameshift |
1/20 |
- |
6 |
1-27024001-CG-C |
c.1113del |
p.Q372Sfs*19 |
Frameshift |
1/20 |
- |
7 |
1-27024007-G-GC |
c.1114dup |
p.Q372Pfs*28 |
Frameshift |
1/20 |
- |
1 |
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 |
- |
4 |
1-27024010-G-C |
c.1116G>C |
p.Q372H |
Missense |
1/20 |
- |
1 |
1-27024011-C-A |
c.1117C>A |
p.P373T |
Missense |
1/20 |
- |
1 |
1-27024011-C-G |
c.1117C>G |
p.P373A |
Missense |
1/20 |
- |
1 |
1-27024011-C-T |
c.1117C>T |
p.P373S |
Missense |
1/20 |
- |
3 |
1-27024012-C-T |
c.1118C>T |
p.P373L |
Missense |
1/20 |
- |
2 |
1-27024013-G-C |
c.1119G>C |
p.P373= |
Synonymous |
1/20 |
- |
1 |
1-27024014-C-G |
c.1120C>G |
p.L374V |
Missense |
1/20 |
- |
1 |
1-27024015-T-C |
c.1121T>C |
p.L374P |
Missense |
1/20 |
- |
1 |
1-27024016-C-A |
c.1122C>A |
p.L374= |
Synonymous |
1/20 |
- |
1 |
1-27024016-C-G |
c.1122C>G |
p.L374= |
Synonymous |
1/20 |
- |
1 |
1-27024016-C-T |
c.1122C>T |
p.L374= |
Synonymous |
1/20 |
- |
1 |
1-27024017-G-A |
c.1123G>A |
p.A375T |
Missense |
1/20 |
- |
2 |
1-27024017-G-T |
c.1123G>T |
p.A375S |
Missense |
1/20 |
- |
1 |
1-27024018-C-T |
c.1124C>T |
p.A375V |
Missense |
1/20 |
- |
1 |
1-27024021-GG-AT |
c.1127_1128delinsAT |
p.R376H |
Missense |
1/20 |
- |
1 |
1-27024023-A-C |
c.1129A>C |
p.T377P |
Missense |
1/20 |
- |
1 |
1-27024025-C-A |
c.1131C>A |
p.T377= |
Synonymous |
1/20 |
- |
2 |
1-27024025-C-G |
c.1131C>G |
p.T377= |
Synonymous |
1/20 |
- |
2 |
1-27024025-C-T |
c.1131C>T |
p.T377= |
Synonymous |
1/20 |
- |
2 |
1-27024026-C-T |
c.1132C>T |
p.P378S |
Missense |
1/20 |
- |
2 |
1-27024027-C-T |
c.1133C>T |
p.P378L |
Missense |
1/20 |
- |
2 |
1-27024028-T-C |
c.1134T>C |
p.P378= |
Synonymous |
1/20 |
- |
1 |
1-27024029-C-A |
c.1135C>A |
p.Q379K |
Missense |
1/20 |
- |
1 |
1-27024029-C-G |
c.1135C>G |
p.Q379E |
Missense |
1/20 |
- |
1 |
1-27024029-C-T |
c.1135C>T |
p.Q379* |
Nonsense |
1/20 |
- |
4 |
1-27024031-G-C |
c.1137G>C |
p.Q379H |
Missense |
1/20 |
- |
1 |
1-27024031-G-T |
c.1137G>T |
p.Q379H |
Missense |
1/20 |
- |
1 |
1-27024080-T-G |
c.1137+49T>G |
- |
IntronicSNV |
- |
1/19 |
2 |
1-27024084-T-G |
c.1137+53T>G |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27024241-A-G |
c.1137+210A>G |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27024634-TG-T |
c.1137+605del |
- |
IntronicDeletion |
- |
1/19 |
1 |
1-27024652-AG-A |
c.1137+621del |
- |
IntronicDeletion |
- |
1/19 |
1 |
1-27024892-T-C |
c.1137+861T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27024962-T-C |
c.1137+931T>C |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27025129-GT-G |
c.1137+1104del |
- |
IntronicDeletion |
- |
1/19 |
1 |
1-27026987-C-A |
c.1137+2956C>A |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27026987-C-G |
c.1137+2956C>G |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27028221-A-G |
c.1137+4190A>G |
- |
IntronicSNV |
- |
1/19 |
1 |
1-27037035-C-A |
c.1137+13004C>A |
- |
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 |
1-27038578-G-GA |
c.1137+14556dup |
- |
IntronicInsertion |
- |
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 |
1-27056142-C-A |
c.1138C>A |
p.P380T |
Missense |
2/20 |
- |
2 |
1-27056143-C-T |
c.1139C>T |
p.P380L |
Missense |
2/20 |
- |
1 |
1-27056144-A-C |
c.1140A>C |
p.P380= |
Synonymous |
2/20 |
- |
1 |
1-27056144-A-G |
c.1140A>G |
p.P380= |
Synonymous |
2/20 |
- |
5 |
1-27056144-A-T |
c.1140A>T |
p.P380= |
Synonymous |
2/20 |
- |
1 |
1-27056145-TC-CT |
c.1141_1142delinsCT |
p.S381L |
Missense |
2/20 |
- |
1 |
1-27056147-C-T |
c.1143C>T |
p.S381= |
Synonymous |
2/20 |
- |
3 |
1-27056149-G-A |
c.1145G>A |
p.S382N |
Missense |
2/20 |
- |
1 |
1-27056149-G-C |
c.1145G>C |
p.S382T |
Missense |
2/20 |
- |
2 |
1-27056150-T-C |
c.1146T>C |
p.S382= |
Synonymous |
2/20 |
- |
1 |
1-27056151-C-G |
c.1147C>G |
p.P383A |
Missense |
2/20 |
- |
1 |
1-27056151-C-T |
c.1147C>T |
p.P383S |
Missense |
2/20 |
- |
5 |
1-27056150-T-TC |
c.1148dup |
p.M384Nfs*16 |
Frameshift |
2/20 |
- |
1 |
1-27056152-C-A |
c.1148C>A |
p.P383Q |
Missense |
2/20 |
- |
1 |
1-27056152-CA-C |
c.1150del |
p.M384Wfs*7 |
Frameshift |
2/20 |
- |
1 |
1-27056154-A-G |
c.1150A>G |
p.M384V |
Missense |
2/20 |
- |
2 |
1-27056155-T-G |
c.1151T>G |
p.M384R |
Missense |
2/20 |
- |
1 |
1-27056156-G-A |
c.1152G>A |
p.M384I |
Missense |
2/20 |
- |
1 |
1-27056156-G-C |
c.1152G>C |
p.M384I |
Missense |
2/20 |
- |
1 |
1-27056156-G-T |
c.1152G>T |
p.M384I |
Missense |
2/20 |
- |
1 |
1-27056157-G-A |
c.1153G>A |
p.D385N |
Missense |
2/20 |
- |
3 |
1-27056159-T-A |
c.1155T>A |
p.D385E |
Missense |
2/20 |
- |
1 |
1-27056159-T-G |
c.1155T>G |
p.D385E |
Missense |
2/20 |
- |
1 |
1-27056160-C-T |
c.1156C>T |
p.Q386* |
Nonsense |
2/20 |
- |
17 |
1-27056161-A-T |
c.1157A>T |
p.Q386L |
Missense |
2/20 |
- |
1 |
1-27056160-CAGATGGGCAAG-C |
c.1158_1168del |
p.Q386Hfs*10 |
Frameshift |
2/20 |
- |
1 |
1-27056163-A-C |
c.1159A>C |
p.M387L |
Missense |
2/20 |
- |
1 |
1-27056163-A-T |
c.1159A>T |
p.M387L |
Missense |
2/20 |
- |
1 |
1-27056164-T-C |
c.1160T>C |
p.M387T |
Missense |
2/20 |
- |
1 |
1-27056164-T-G |
c.1160T>G |
p.M387R |
Missense |
2/20 |
- |
1 |
1-27056165-G-A |
c.1161G>A |
p.M387I |
Missense |
2/20 |
- |
2 |
1-27056165-G-C |
c.1161G>C |
p.M387I |
Missense |
2/20 |
- |
3 |
1-27056165-G-T |
c.1161G>T |
p.M387I |
Missense |
2/20 |
- |
2 |
1-27056166-G-A |
c.1162G>A |
p.G388S |
Missense |
2/20 |
- |
4 |
1-27056166-G-C |
c.1162G>C |
p.G388R |
Missense |
2/20 |
- |
1 |
1-27056166-G-T |
c.1162G>T |
p.G388C |
Missense |
2/20 |
- |
1 |
1-27056167-G-A |
c.1163G>A |
p.G388D |
Missense |
2/20 |
- |
4 |
1-27056169-A-C |
c.1165A>C |
p.K389Q |
Missense |
2/20 |
- |
5 |
1-27056169-A-T |
c.1165A>T |
p.K389* |
Nonsense |
2/20 |
- |
2 |
1-27056170-A-C |
c.1166A>C |
p.K389T |
Missense |
2/20 |
- |
1 |
1-27056171-G-C |
c.1167G>C |
p.K389N |
Missense |
2/20 |
- |
1 |
1-27056171-G-T |
c.1167G>T |
p.K389N |
Missense |
2/20 |
- |
1 |
1-27056172-A-AT |
c.1169dup |
p.M390Ifs*10 |
Frameshift |
2/20 |
- |
1 |
1-27056174-G-A |
c.1170G>A |
p.M390I |
Missense |
2/20 |
- |
1 |
1-27056174-G-C |
c.1170G>C |
p.M390I |
Missense |
2/20 |
- |
1 |
1-27056174-G-GT |
c.1170_1171insT |
p.R391* |
Nonsense |
2/20 |
- |
1 |
1-27056174-G-T |
c.1170G>T |
p.M390I |
Missense |
2/20 |
- |
1 |
1-27056175-A-G |
c.1171A>G |
p.R391G |
Missense |
2/20 |
- |
1 |
1-27056175-AGA-CAT |
c.1171_1173delinsCAT |
p.R391H |
Missense |
2/20 |
- |
1 |
1-27056175-AG-CA |
c.1171_1172delinsCA |
p.R391Q |
Missense |
2/20 |
- |
1 |
1-27056175-A-T |
c.1171A>T |
p.R391* |
Nonsense |
2/20 |
- |
1 |
1-27056176-G-A |
c.1172G>A |
p.R391K |
Missense |
2/20 |
- |
2 |
1-27056175-A-C |
c.1171A>C |
p.R391= |
Synonymous |
2/20 |
- |
1 |
1-27056177-A-G |
c.1173A>G |
p.R391= |
Synonymous |
2/20 |
- |
1 |
1-27056178-C-T |
c.1174C>T |
p.P392S |
Missense |
2/20 |
- |
5 |
1-27056179-C-A |
c.1175C>A |
p.P392H |
Missense |
2/20 |
- |
3 |
1-27056179-C-G |
c.1175C>G |
p.P392R |
Missense |
2/20 |
- |
1 |
1-27056179-C-T |
c.1175C>T |
p.P392L |
Missense |
2/20 |
- |
1 |
1-27056181-C-T |
c.1177C>T |
p.Q393* |
Nonsense |
2/20 |
- |
22 |
1-27056182-A-T |
c.1178A>T |
p.Q393L |
Missense |
2/20 |
- |
1 |
1-27056180-TCAGC-T |
c.1179_1182del |
p.Q393Hfs*39 |
Frameshift |
2/20 |
- |
1 |
1-27056184-C-T |
c.1180C>T |
p.P394S |
Missense |
2/20 |
- |
7 |
1-27056187-T-C |
c.1183T>C |
p.Y395H |
Missense |
2/20 |
- |
2 |
1-27056188-A-G |
c.1184A>G |
p.Y395C |
Missense |
2/20 |
- |
3 |
1-27056189-T-A |
c.1185T>A |
p.Y395* |
Nonsense |
2/20 |
- |
3 |
1-27056189-T-G |
c.1185T>G |
p.Y395* |
Nonsense |
2/20 |
- |
2 |
1-27056190-G-A |
c.1186G>A |
p.G396S |
Missense |
2/20 |
- |
1 |
1-27056190-G-T |
c.1186G>T |
p.G396C |
Missense |
2/20 |
- |
2 |
1-27056191-G-A |
c.1187G>A |
p.G396D |
Missense |
2/20 |
- |
4 |
1-27056192-C-A |
c.1188C>A |
p.G396= |
Synonymous |
2/20 |
- |
1 |
1-27056192-C-G |
c.1188C>G |
p.G396= |
Synonymous |
2/20 |
- |
3 |
1-27056192-C-T |
c.1188C>T |
p.G396= |
Synonymous |
2/20 |
- |
5 |
1-27056193-G-A |
c.1189G>A |
p.G397R |
Missense |
2/20 |
- |
3 |
1-27056193-G-C |
c.1189G>C |
p.G397R |
Missense |
2/20 |
- |
3 |
1-27056194-G-A |
c.1190G>A |
p.G397E |
Missense |
2/20 |
- |
1 |
1-27056197-C-T |
c.1193C>T |
p.T398I |
Missense |
2/20 |
- |
1 |
1-27056197-CT-AG |
c.1193_1194inv |
p.T398K |
Missense |
2/20 |
- |
1 |
1-27056197-CT-TG |
c.1193_1194delinsTG |
p.T398M |
Missense |
2/20 |
- |
1 |
1-27056200-A-C |
c.1196A>C |
p.N399T |
Missense |
2/20 |
- |
1 |
1-27056200-A-G |
c.1196A>G |
p.N399S |
Missense |
2/20 |
- |
2 |
1-27056201-C-A |
c.1197C>A |
p.N399K |
Missense |
2/20 |
- |
2 |
1-27056201-C-G |
c.1197C>G |
p.N399K |
Missense |
2/20 |
- |
2 |
1-27056202-C-G |
c.1198C>G |
p.P400A |
Missense |
2/20 |
- |
3 |
1-27056202-C-T |
c.1198C>T |
p.P400S |
Missense |
2/20 |
- |
2 |
1-27056200-AC-A |
c.1199del |
p.P400Hfs*33 |
Frameshift |
2/20 |
- |
1 |
1-27056203-C-A |
c.1199C>A |
p.P400Q |
Missense |
2/20 |
- |
1 |
1-27056203-C-T |
c.1199C>T |
p.P400L |
Missense |
2/20 |
- |
2 |
1-27056206-A-G |
c.1202A>G |
p.Y401C |
Missense |
2/20 |
- |
1 |
1-27056207-C-A |
c.1203C>A |
p.Y401* |
Nonsense |
2/20 |
- |
4 |
1-27056207-C-G |
c.1203C>G |
p.Y401* |
Nonsense |
2/20 |
- |
5 |
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 |
- |
2 |
1-27056209-C-T |
c.1205C>T |
p.S402L |
Missense |
2/20 |
- |
4 |
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 |
1-27056210-G-GC |
c.1207dup |
p.Q403Pfs*220 |
Frameshift |
2/20 |
- |
1 |
1-27056211-C-T |
c.1207C>T |
p.Q403* |
Nonsense |
2/20 |
- |
8 |
1-27056212-A-C |
c.1208A>C |
p.Q403P |
Missense |
2/20 |
- |
1 |
1-27056213-G-A |
c.1209G>A |
p.Q403= |
Synonymous |
2/20 |
- |
2 |
1-27056213-G-C |
c.1209G>C |
p.Q403H |
Missense |
2/20 |
- |
1 |
1-27056213-G-T |
c.1209G>T |
p.Q403H |
Missense |
2/20 |
- |
1 |
1-27056214-C-G |
c.1210C>G |
p.Q404E |
Missense |
2/20 |
- |
1 |
1-27056214-C-T |
c.1210C>T |
p.Q404* |
Nonsense |
2/20 |
- |
12 |
1-27056216-A-C |
c.1212A>C |
p.Q404H |
Missense |
2/20 |
- |
2 |
1-27056216-A-G |
c.1212A>G |
p.Q404= |
Synonymous |
2/20 |
- |
1 |
1-27056216-A-T |
c.1212A>T |
p.Q404H |
Missense |
2/20 |
- |
3 |
1-27056217-C-A |
c.1213C>A |
p.Q405K |
Missense |
2/20 |
- |
1 |
1-27056217-C-T |
c.1213C>T |
p.Q405* |
Nonsense |
2/20 |
- |
9 |
1-27056218-A-G |
c.1214A>G |
p.Q405R |
Missense |
2/20 |
- |
1 |
1-27056220-G-A |
c.1216G>A |
p.G406R |
Missense |
2/20 |
- |
3 |
1-27056220-G-C |
c.1216G>C |
p.G406R |
Missense |
2/20 |
- |
1 |
1-27056220-GG-AC |
c.1216_1217delinsAC |
p.G406T |
Missense |
2/20 |
- |
1 |
1-27056221-G-A |
c.1217G>A |
p.G406E |
Missense |
2/20 |
- |
1 |
1-27056223-C-A |
c.1219C>A |
p.P407T |
Missense |
2/20 |
- |
1 |
1-27056223-C-T |
c.1219C>T |
p.P407S |
Missense |
2/20 |
- |
1 |
1-27056222-A-AC |
c.1220dup |
p.P408Sfs*215 |
Frameshift |
2/20 |
- |
1 |
1-27056224-C-T |
c.1220C>T |
p.P407L |
Missense |
2/20 |
- |
4 |
1-27056226-C-A |
c.1222C>A |
p.P408T |
Missense |
2/20 |
- |
1 |
1-27056226-C-T |
c.1222C>T |
p.P408S |
Missense |
2/20 |
- |
2 |
1-27056227-C-G |
c.1223C>G |
p.P408R |
Missense |
2/20 |
- |
1 |
1-27056227-CG-AT |
c.1223_1224delinsAT |
p.P408H |
Missense |
2/20 |
- |
1 |
1-27056227-C-T |
c.1223C>T |
p.P408L |
Missense |
2/20 |
- |
8 |
1-27056227-C-CG |
c.1224dup |
p.S409Vfs*214 |
Frameshift |
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 |
1-27056228-G-T |
c.1224G>T |
p.P408= |
Synonymous |
2/20 |
- |
2 |
1-27056229-TCA-AAC |
c.1225_1227delinsAAC |
p.S409N |
Missense |
2/20 |
- |
1 |
1-27056230-C-G |
c.1226C>G |
p.S409* |
Nonsense |
2/20 |
- |
3 |
1-27056230-C-T |
c.1226C>T |
p.S409L |
Missense |
2/20 |
- |
1 |
1-27056231-CA-C |
c.1227del |
p.G410Dfs*23 |
Frameshift |
2/20 |
- |
2 |
1-27056232-G-A |
c.1228G>A |
p.G410R |
Missense |
2/20 |
- |
3 |
1-27056232-G-C |
c.1228G>C |
p.G410R |
Missense |
2/20 |
- |
2 |
1-27056232-G-T |
c.1228G>T |
p.G410* |
Nonsense |
2/20 |
- |
2 |
1-27056233-G-A |
c.1229G>A |
p.G410E |
Missense |
2/20 |
- |
1 |
1-27056233-G-C |
c.1229G>C |
p.G410A |
Missense |
2/20 |
- |
1 |
1-27056235-C-G |
c.1231C>G |
p.P411A |
Missense |
2/20 |
- |
1 |
1-27056236-CG-AT |
c.1232_1233delinsAT |
p.P411H |
Missense |
2/20 |
- |
2 |
1-27056236-C-T |
c.1232C>T |
p.P411L |
Missense |
2/20 |
- |
4 |
1-27056236-C-CG |
c.1233dup |
p.Q412Afs*211 |
Frameshift |
2/20 |
- |
1 |
1-27056237-G-A |
c.1233G>A |
p.P411= |
Synonymous |
2/20 |
- |
2 |
1-27056237-G-C |
c.1233G>C |
p.P411= |
Synonymous |
2/20 |
- |
1 |
1-27056237-G-T |
c.1233G>T |
p.P411= |
Synonymous |
2/20 |
- |
1 |
1-27056238-C-G |
c.1234C>G |
p.Q412E |
Missense |
2/20 |
- |
1 |
1-27056238-C-T |
c.1234C>T |
p.Q412* |
Nonsense |
2/20 |
- |
1 |
1-27056238-GC-G |
c.1234del |
p.Q412Sfs*21 |
Frameshift |
2/20 |
- |
1 |
1-27056239-A-G |
c.1235A>G |
p.Q412R |
Missense |
2/20 |
- |
1 |
1-27056236-CGCA-C |
c.1236_1238del |
p.Q413del |
InFrameDeletion |
2/20 |
- |
1 |
1-27056240-G-C |
c.1236G>C |
p.Q412H |
Missense |
2/20 |
- |
1 |
1-27056241-C-A |
c.1237C>A |
p.Q413K |
Missense |
2/20 |
- |
2 |
1-27056241-CA-AC |
c.1237_1238delinsAC |
p.Q413T |
Missense |
2/20 |
- |
1 |
1-27056241-C-T |
c.1237C>T |
p.Q413* |
Nonsense |
2/20 |
- |
4 |
1-27056242-A-G |
c.1238A>G |
p.Q413R |
Missense |
2/20 |
- |
1 |
1-27056244-G-A |
c.1240G>A |
p.G414R |
Missense |
2/20 |
- |
1 |
1-27056244-G-T |
c.1240G>T |
p.G414* |
Nonsense |
2/20 |
- |
4 |
1-27056245-G-A |
c.1241G>A |
p.G414E |
Missense |
2/20 |
- |
6 |
1-27056245-G-T |
c.1241G>T |
p.G414V |
Missense |
2/20 |
- |
1 |
1-27056247-C-T |
c.1243C>T |
p.H415Y |
Missense |
2/20 |
- |
1 |
1-27056245-GACATGGGT-G |
c.1244_1251del |
p.H415Pfs*205 |
Frameshift |
2/20 |
- |
1 |
1-27056248-A-G |
c.1244A>G |
p.H415R |
Missense |
2/20 |
- |
2 |
1-27056250-G-A |
c.1246G>A |
p.G416R |
Missense |
2/20 |
- |
2 |
1-27056250-G-C |
c.1246G>C |
p.G416R |
Missense |
2/20 |
- |
1 |
1-27056250-GGG-AGC |
c.1246_1248delinsAGC |
p.G416S |
Missense |
2/20 |
- |
1 |
1-27056250-G-T |
c.1246G>T |
p.G416W |
Missense |
2/20 |
- |
1 |
1-27056252-G-A |
c.1248G>A |
p.G416= |
Synonymous |
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 |
- |
3 |
1-27056255-C-G |
c.1251C>G |
p.Y417* |
Nonsense |
2/20 |
- |
2 |
1-27056257-C-A |
c.1253C>A |
p.P418Q |
Missense |
2/20 |
- |
1 |
1-27056257-C-T |
c.1253C>T |
p.P418L |
Missense |
2/20 |
- |
1 |
1-27056258-A-C |
c.1254A>C |
p.P418= |
Synonymous |
2/20 |
- |
1 |
1-27056258-A-G |
c.1254A>G |
p.P418= |
Synonymous |
2/20 |
- |
1 |
1-27056258-A-T |
c.1254A>T |
p.P418= |
Synonymous |
2/20 |
- |
1 |
1-27056259-G-A |
c.1255G>A |
p.G419R |
Missense |
2/20 |
- |
1 |
1-27056259-G-C |
c.1255G>C |
p.G419R |
Missense |
2/20 |
- |
1 |
1-27056261-G-A |
c.1257G>A |
p.G419= |
Synonymous |
2/20 |
- |
3 |
1-27056261-G-C |
c.1257G>C |
p.G419= |
Synonymous |
2/20 |
- |
2 |
1-27056261-G-T |
c.1257G>T |
p.G419= |
Synonymous |
2/20 |
- |
2 |
1-27056262-C-A |
c.1258C>A |
p.Q420K |
Missense |
2/20 |
- |
1 |
1-27056262-C-T |
c.1258C>T |
p.Q420* |
Nonsense |
2/20 |
- |
8 |
1-27056263-A-C |
c.1259A>C |
p.Q420P |
Missense |
2/20 |
- |
1 |
1-27056263-A-T |
c.1259A>T |
p.Q420L |
Missense |
2/20 |
- |
1 |
1-27056265-C-A |
c.1261C>A |
p.P421T |
Missense |
2/20 |
- |
1 |
1-27056266-C-T |
c.1262C>T |
p.P421L |
Missense |
2/20 |
- |
7 |
1-27056264-GCCATACGGGTCCCAGACCCCGCAGCGGTACCCGATGA-G |
c.1265_1301del |
p.Y422Cfs*185 |
Frameshift |
2/20 |
- |
1 |
1-27056270-ACGG-A |
c.1266_1268del |
p.Y422_G423delins* |
MultiAAMissense |
2/20 |
- |
1 |
1-27056271-CGGG-C |
c.1267_1269del |
p.G423del |
InFrameDeletion |
2/20 |
- |
1 |
1-27056271-G-A |
c.1267G>A |
p.G423R |
Missense |
2/20 |
- |
3 |
1-27056271-G-C |
c.1267G>C |
p.G423R |
Missense |
2/20 |
- |
2 |
1-27056271-GG-CA |
c.1267_1268delinsCA |
p.G423Q |
Missense |
2/20 |
- |
1 |
1-27056271-GGG-AGC |
c.1267_1269delinsAGC |
p.G423S |
Missense |
2/20 |
- |
1 |
1-27056272-G-A |
c.1268G>A |
p.G423E |
Missense |
2/20 |
- |
2 |
1-27056272-GG-AC |
c.1268_1269delinsAC |
p.G423D |
Missense |
2/20 |
- |
1 |
1-27056272-G-T |
c.1268G>T |
p.G423V |
Missense |
2/20 |
- |
3 |
1-27056273-G-T |
c.1269G>T |
p.G423= |
Synonymous |
2/20 |
- |
2 |
1-27056274-T-C |
c.1270T>C |
p.S424P |
Missense |
2/20 |
- |
1 |
1-27056274-T-G |
c.1270T>G |
p.S424A |
Missense |
2/20 |
- |
1 |
1-27056275-C-A |
c.1271C>A |
p.S424Y |
Missense |
2/20 |
- |
1 |
1-27056275-C-T |
c.1271C>T |
p.S424F |
Missense |
2/20 |
- |
1 |
1-27056277-C-T |
c.1273C>T |
p.Q425* |
Nonsense |
2/20 |
- |
2 |
1-27056278-A-T |
c.1274A>T |
p.Q425L |
Missense |
2/20 |
- |
1 |
1-27056278-CA-C |
c.1274del |
p.Q425Rfs*8 |
Frameshift |
2/20 |
- |
1 |
1-27056278-CAGA-C |
c.1274_1276del |
p.Q425_T426delinsP |
MultiAAMissense |
2/20 |
- |
1 |
1-27056281-C-A |
c.1277C>A |
p.T426N |
Missense |
2/20 |
- |
1 |
1-27056282-CCCCGCAGCGG-C |
c.1278_1287del |
p.P427Tfs*3 |
Frameshift |
2/20 |
- |
1 |
1-27056283-C-A |
c.1279C>A |
p.P427T |
Missense |
2/20 |
- |
1 |
1-27056283-C-T |
c.1279C>T |
p.P427S |
Missense |
2/20 |
- |
3 |
1-27056280-AC-A |
c.1280del |
p.P427Rfs*6 |
Frameshift |
2/20 |
- |
2 |
1-27056284-CGCAGCGG-T |
c.1280_1287delinsT |
p.P427Lfs*4 |
Frameshift |
2/20 |
- |
1 |
1-27056284-C-T |
c.1280C>T |
p.P427L |
Missense |
2/20 |
- |
8 |
1-27056285-G-A |
c.1281G>A |
p.P427= |
Synonymous |
2/20 |
- |
3 |
1-27056285-G-GC |
c.1282dup |
p.Q428Pfs*195 |
Frameshift |
2/20 |
- |
1 |
1-27056286-C-G |
c.1282C>G |
p.Q428E |
Missense |
2/20 |
- |
1 |
1-27056286-C-T |
c.1282C>T |
p.Q428* |
Nonsense |
2/20 |
- |
7 |
1-27056287-A-G |
c.1283A>G |
p.Q428R |
Missense |
2/20 |
- |
1 |
1-27056288-G-C |
c.1284G>C |
p.Q428H |
Missense |
2/20 |
- |
1 |
1-27056287-AGCG-A |
c.1285_1287del |
p.R429del |
InFrameDeletion |
2/20 |
- |
1 |
1-27056289-CGG-TGT |
c.1285_1287delinsTGT |
p.R429C |
Missense |
2/20 |
- |
1 |
1-27056289-C-T |
c.1285C>T |
p.R429W |
Missense |
2/20 |
- |
3 |
1-27056290-G-A |
c.1286G>A |
p.R429Q |
Missense |
2/20 |
- |
3 |
1-27056292-T-A |
c.1288T>A |
p.Y430N |
Missense |
2/20 |
- |
1 |
1-27056293-A-G |
c.1289A>G |
p.Y430C |
Missense |
2/20 |
- |
2 |
1-27056294-C-A |
c.1290C>A |
p.Y430* |
Nonsense |
2/20 |
- |
1 |
1-27056294-C-T |
c.1290C>T |
p.Y430= |
Synonymous |
2/20 |
- |
2 |
1-27056296-C-A |
c.1292C>A |
p.P431Q |
Missense |
2/20 |
- |
2 |
1-27056296-C-G |
c.1292C>G |
p.P431R |
Missense |
2/20 |
- |
1 |
1-27056296-C-T |
c.1292C>T |
p.P431L |
Missense |
2/20 |
- |
4 |
1-27056297-G-A |
c.1293G>A |
p.P431= |
Synonymous |
2/20 |
- |
1 |
1-27056296-CGATGACCATGCAGGGCCGGGCGCAGAGT-C |
c.1294_1321del |
p.M432Pfs*178 |
Frameshift |
2/20 |
- |
1 |
1-27056298-A-G |
c.1294A>G |
p.M432V |
Missense |
2/20 |
- |
1 |
1-27056299-T-A |
c.1295T>A |
p.M432K |
Missense |
2/20 |
- |
1 |
1-27056300-G-A |
c.1296G>A |
p.M432I |
Missense |
2/20 |
- |
1 |
1-27056300-G-C |
c.1296G>C |
p.M432I |
Missense |
2/20 |
- |
1 |
1-27056300-G-T |
c.1296G>T |
p.M432I |
Missense |
2/20 |
- |
1 |
1-27056301-ACC-TAA |
c.1297_1299delinsTAA |
p.T433* |
Nonsense |
2/20 |
- |
1 |
1-27056302-C-A |
c.1298C>A |
p.T433N |
Missense |
2/20 |
- |
1 |
1-27056302-C-T |
c.1298C>T |
p.T433I |
Missense |
2/20 |
- |
2 |
1-27056301-AC-A |
c.1299del |
p.M434Cfs*185 |
Frameshift |
2/20 |
- |
1 |
1-27056304-A-G |
c.1300A>G |
p.M434V |
Missense |
2/20 |
- |
1 |
1-27056305-T-TG |
c.1302dup |
p.Q435Afs*188 |
Frameshift |
2/20 |
- |
1 |
1-27056306-G-A |
c.1302G>A |
p.M434I |
Missense |
2/20 |
- |
1 |
1-27056307-C-A |
c.1303C>A |
p.Q435K |
Missense |
2/20 |
- |
1 |
1-27056307-C-T |
c.1303C>T |
p.Q435* |
Nonsense |
2/20 |
- |
8 |
1-27056307-C-CA |
c.1304dup |
p.R437Pfs*186 |
Frameshift |
2/20 |
- |
1 |
1-27056308-CA-C |
c.1304del |
p.Q435Rfs*184 |
Frameshift |
2/20 |
- |
1 |
1-27056311-G-A |
c.1307G>A |
p.G436D |
Missense |
2/20 |
- |
1 |
1-27056311-G-C |
c.1307G>C |
p.G436A |
Missense |
2/20 |
- |
1 |
1-27056313-C-A |
c.1309C>A |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056313-CG-AA |
c.1309_1310delinsAA |
p.R437K |
Missense |
2/20 |
- |
1 |
1-27056313-C-T |
c.1309C>T |
p.R437W |
Missense |
2/20 |
- |
2 |
1-27056315-G-A |
c.1311G>A |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056315-G-C |
c.1311G>C |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056315-G-T |
c.1311G>T |
p.R437= |
Synonymous |
2/20 |
- |
1 |
1-27056314-G-A |
c.1310G>A |
p.R437Q |
Missense |
2/20 |
- |
2 |
1-27056314-GG-AT |
c.1310_1311delinsAT |
p.R437H |
Missense |
2/20 |
- |
1 |
1-27056316-G-A |
c.1312G>A |
p.A438T |
Missense |
2/20 |
- |
2 |
1-27056317-C-T |
c.1313C>T |
p.A438V |
Missense |
2/20 |
- |
6 |
1-27056314-GGGCGCAGAGTGCCATGGGC-G |
c.1314_1332del |
p.Q439Sfs*174 |
Frameshift |
2/20 |
- |
1 |
1-27056316-GCGCAGAGTGCCATGGGCGGCCTCT-G |
c.1314_1337del |
p.Q439_S446del |
InFrameDeletion |
2/20 |
- |
1 |
1-27056318-CG-C |
c.1314del |
p.Q439Rfs*180 |
Frameshift |
2/20 |
- |
1 |
1-27056318-G-A |
c.1314G>A |
p.A438= |
Synonymous |
2/20 |
- |
2 |
1-27056319-C-T |
c.1315C>T |
p.Q439* |
Nonsense |
2/20 |
- |
1 |
1-27056320-A-G |
c.1316A>G |
p.Q439R |
Missense |
2/20 |
- |
1 |
1-27056320-CA-C |
c.1316del |
p.Q439Rfs*180 |
Frameshift |
2/20 |
- |
1 |
1-27056321-G-A |
c.1317G>A |
p.Q439= |
Synonymous |
2/20 |
- |
1 |
1-27056321-G-C |
c.1317G>C |
p.Q439H |
Missense |
2/20 |
- |
4 |
1-27056321-G-GT |
c.1317_1318insT |
p.S440* |
Nonsense |
2/20 |
- |
1 |
1-27056321-G-T |
c.1317G>T |
p.Q439H |
Missense |
2/20 |
- |
1 |
1-27056322-AG-CC |
c.1318_1319delinsCC |
p.S440P |
Missense |
2/20 |
- |
1 |
1-27056322-AG-CT |
c.1318_1319inv |
p.S440L |
Missense |
2/20 |
- |
1 |
1-27056323-G-A |
c.1319G>A |
p.S440N |
Missense |
2/20 |
- |
1 |
1-27056323-G-C |
c.1319G>C |
p.S440T |
Missense |
2/20 |
- |
1 |
1-27056324-T-TG |
c.1321dup |
p.A441Gfs*182 |
Frameshift |
2/20 |
- |
1 |
1-27056325-G-A |
c.1321G>A |
p.A441T |
Missense |
2/20 |
- |
3 |
1-27056326-C-G |
c.1322C>G |
p.A441G |
Missense |
2/20 |
- |
1 |
1-27056326-C-T |
c.1322C>T |
p.A441V |
Missense |
2/20 |
- |
2 |
1-27056325-GC-G |
c.1323del |
p.M442Wfs*177 |
Frameshift |
2/20 |
- |
2 |
1-27056327-C-G |
c.1323C>G |
p.A441= |
Synonymous |
2/20 |
- |
1 |
1-27056330-G-A |
c.1326G>A |
p.M442I |
Missense |
2/20 |
- |
1 |
1-27056330-G-T |
c.1326G>T |
p.M442I |
Missense |
2/20 |
- |
1 |
1-27056331-G-T |
c.1327G>T |
p.G443C |
Missense |
2/20 |
- |
1 |
1-27056329-T-TG |
c.1328dup |
p.G444Rfs*179 |
Frameshift |
2/20 |
- |
1 |
1-27056332-G-T |
c.1328G>T |
p.G443V |
Missense |
2/20 |
- |
1 |
1-27056333-C-A |
c.1329C>A |
p.G443= |
Synonymous |
2/20 |
- |
1 |
1-27056333-C-G |
c.1329C>G |
p.G443= |
Synonymous |
2/20 |
- |
1 |
1-27056333-C-T |
c.1329C>T |
p.G443= |
Synonymous |
2/20 |
- |
2 |
1-27056334-G-A |
c.1330G>A |
p.G444S |
Missense |
2/20 |
- |
9 |
1-27056333-C-CG |
c.1331dup |
p.L445Pfs*178 |
Frameshift |
2/20 |
- |
1 |
1-27056333-CG-C |
c.1331del |
p.G444Afs*175 |
Frameshift |
2/20 |
- |
1 |
1-27056335-G-A |
c.1331G>A |
p.G444D |
Missense |
2/20 |
- |
2 |
1-27056335-G-C |
c.1331G>C |
p.G444A |
Missense |
2/20 |
- |
1 |
1-27056335-G-T |
c.1331G>T |
p.G444V |
Missense |
2/20 |
- |
1 |
1-27056336-GCC-G |
c.1332_1333del |
p.S446Lfs*176 |
Frameshift |
2/20 |
- |
1 |
1-27056335-G-GC |
c.1333dup |
p.L445Pfs*178 |
Frameshift |
2/20 |
- |
1 |
1-27056338-T-C |
c.1334T>C |
p.L445P |
Missense |
2/20 |
- |
1 |
1-27056339-C-A |
c.1335C>A |
p.L445= |
Synonymous |
2/20 |
- |
1 |
1-27056339-C-G |
c.1335C>G |
p.L445= |
Synonymous |
2/20 |
- |
1 |
1-27056339-C-T |
c.1335C>T |
p.L445= |
Synonymous |
2/20 |
- |
3 |
1-27056340-TC-CT |
c.1336_1337delinsCT |
p.S446L |
Missense |
2/20 |
- |
4 |
1-27056336-CCT-C |
c.1337_1338del |
p.S446Lfs*176 |
Frameshift |
2/20 |
- |
3 |
1-27056341-C-T |
c.1337C>T |
p.S446F |
Missense |
2/20 |
- |
2 |
1-27056342-CTT-C |
c.1338_1339del |
p.Q449Afs*173 |
Frameshift |
2/20 |
- |
7 |
1-27056341-C-CT |
c.1339dup |
p.Y447Lfs*176 |
Frameshift |
2/20 |
- |
1 |
1-27056341-CT-C |
c.1339del |
p.Y447Ifs*172 |
Frameshift |
2/20 |
- |
1 |
1-27056343-T-C |
c.1339T>C |
p.Y447H |
Missense |
2/20 |
- |
1 |
1-27056343-T-TA |
c.1340dup |
p.Y447* |
Nonsense |
2/20 |
- |
1 |
1-27056344-A-G |
c.1340A>G |
p.Y447C |
Missense |
2/20 |
- |
1 |
1-27056342-TTA-T |
c.1341_1342del |
p.Q449Afs*173 |
Frameshift |
2/20 |
- |
2 |
1-27056345-ATAC-A |
c.1341_1343del |
p.Y447_T448delins* |
MultiAAMissense |
2/20 |
- |
1 |
1-27056345-T-A |
c.1341T>A |
p.Y447* |
Nonsense |
2/20 |
- |
2 |
1-27056345-T-G |
c.1341T>G |
p.Y447* |
Nonsense |
2/20 |
- |
2 |
1-27056346-A-AAC |
c.1342_1343insAC |
p.T448Nfs*172 |
Frameshift |
2/20 |
- |
1 |
1-27056346-A-T |
c.1342A>T |
p.T448S |
Missense |
2/20 |
- |
1 |
1-27056347-AC-A |
c.1343del |
p.T448Nfs*171 |
Frameshift |
2/20 |
- |
1 |
1-27056347-ACACAGCAG-A |
c.1343_1350del |
p.T448Nfs*172 |
SpliceDonorDeletion |
2/20 |
- |
1 |
1-27056347-C-G |
c.1343C>G |
p.T448R |
Missense |
2/20 |
- |
1 |
1-27056349-C-G |
c.1345C>G |
p.Q449E |
Missense |
2/20 |
- |
1 |
1-27056349-C-T |
c.1345C>T |
p.Q449* |
Nonsense |
2/20 |
- |
8 |
1-27056349-C-CAACCCTGCCCGAAGCAGCTTAGCCGAGTATTTCAAGGATAGCAGAAATGTGAAGAAGCTTAAAGACCCTA |
c.1346_1347insACCCTGCCCGAAGCAGCTTAGCCGAGTATTTCAAGGATAGCAGAAATGTGAAGAAGCTTAAAGACCCTAA |
p.Q450Pfs*13 |
Frameshift |
2/20 |
- |
1 |
1-27056350-A-G |
c.1346A>G |
p.Q449R |
Missense |
2/20 |
- |
2 |
1-27056350-A-T |
c.1346A>T |
p.Q449L |
Missense |
2/20 |
- |
1 |
1-27056351-G-A |
c.1347G>A |
p.Q449= |
Synonymous |
2/20 |
- |
1 |
1-27056352-C-A |
c.1348C>A |
p.Q450K |
Missense |
2/20 |
- |
1 |
1-27056352-C-T |
c.1348C>T |
p.Q450* |
Nonsense |
2/20 |
- |
1 |
1-27056353-A-T |
c.1349A>T |
p.Q450L |
Missense |
2/20 |
- |
1 |
1-27056353-A-AGATTCCTCCTTATGGACAACAAGGCCCCAGCG |
c.1350_1350+1insATTCCTCCTTATGGACAACAAGGCCCCAGCGG |
p.Y462Ffs*168 |
SpliceDonorInsertion |
- |
- |
1 |
1-27056354-G-A |
c.1350G>A |
p.Q450= |
Synonymous |
2/20 |
- |
4 |
1-27056355-G-A |
c.1350+1G>A |
- |
IntronicSNV |
- |
2/19 |
1 |
1-27056356-T-C |
c.1350+2T>C |
- |
IntronicSNV |
- |
2/19 |
1 |
1-27056366-T-G |
c.1350+12T>G |
- |
IntronicSNV |
- |
2/19 |
1 |
1-27056407-T-G |
c.1350+53T>G |
- |
IntronicSNV |
- |
2/19 |
1 |
1-27057621-A-C |
c.1351-22A>C |
- |
IntronicSNV |
- |
2/19 |
3 |
1-27057621-A-T |
c.1351-22A>T |
- |
IntronicSNV |
- |
2/19 |
3 |
1-27057642-GATTCCTCCTT-G |
c.1353_1362del |
p.I451Mfs*165 |
Frameshift |
3/20 |
- |
1 |
1-27057643-A-AT |
c.1353dup |
p.P452Sfs*171 |
Frameshift |
3/20 |
- |
1 |
1-27057646-C-A |
c.1354C>A |
p.P452T |
Missense |
3/20 |
- |
2 |
1-27057646-CC-TT |
c.1354_1355delinsTT |
p.P452F |
Missense |
3/20 |
- |
1 |
1-27057646-C-G |
c.1354C>G |
p.P452A |
Missense |
3/20 |
- |
2 |
1-27057646-C-T |
c.1354C>T |
p.P452S |
Missense |
3/20 |
- |
3 |
1-27057647-C-G |
c.1355C>G |
p.P452R |
Missense |
3/20 |
- |
3 |
1-27057647-C-T |
c.1355C>T |
p.P452L |
Missense |
3/20 |
- |
7 |
1-27057649-C-A |
c.1357C>A |
p.P453T |
Missense |
3/20 |
- |
1 |
1-27057649-C-T |
c.1357C>T |
p.P453S |
Missense |
3/20 |
- |
3 |
1-27057650-C-T |
c.1358C>T |
p.P453L |
Missense |
3/20 |
- |
1 |
1-27057653-A-G |
c.1361A>G |
p.Y454C |
Missense |
3/20 |
- |
1 |
1-27057654-T-A |
c.1362T>A |
p.Y454* |
Nonsense |
3/20 |
- |
3 |
1-27057654-T-C |
c.1362T>C |
p.Y454= |
Synonymous |
3/20 |
- |
1 |
1-27057654-T-G |
c.1362T>G |
p.Y454* |
Nonsense |
3/20 |
- |
3 |
1-27057655-GGA-AGC |
c.1363_1365delinsAGC |
p.G455S |
Missense |
3/20 |
- |
1 |
1-27057655-G-T |
c.1363G>T |
p.G455* |
Nonsense |
3/20 |
- |
1 |
1-27057654-T-TG |
c.1364dup |
p.Q456Tfs*167 |
Frameshift |
3/20 |
- |
1 |
1-27057656-G-A |
c.1364G>A |
p.G455E |
Missense |
3/20 |
- |
2 |
1-27057656-G-C |
c.1364G>C |
p.G455A |
Missense |
3/20 |
- |
1 |
1-27057657-A-C |
c.1365A>C |
p.G455= |
Synonymous |
3/20 |
- |
1 |
1-27057657-A-G |
c.1365A>G |
p.G455= |
Synonymous |
3/20 |
- |
1 |
1-27057657-A-T |
c.1365A>T |
p.G455= |
Synonymous |
3/20 |
- |
1 |
1-27057658-C-A |
c.1366C>A |
p.Q456K |
Missense |
3/20 |
- |
1 |
1-27057658-C-G |
c.1366C>G |
p.Q456E |
Missense |
3/20 |
- |
1 |
1-27057658-C-T |
c.1366C>T |
p.Q456* |
Nonsense |
3/20 |
- |
17 |
1-27057658-CA-C |
c.1368del |
p.Q456Hfs*163 |
Frameshift |
3/20 |
- |
1 |
1-27057660-A-G |
c.1368A>G |
p.Q456= |
Synonymous |
3/20 |
- |
1 |
1-27057656-GACA-G |
c.1369_1371del |
p.Q457del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057661-AC-A |
c.1369del |
p.Q457Kfs*162 |
Frameshift |
3/20 |
- |
1 |
1-27057661-C-T |
c.1369C>T |
p.Q457* |
Nonsense |
3/20 |
- |
5 |
1-27057661-CA-C |
c.1371del |
p.G458Afs*161 |
Frameshift |
3/20 |
- |
1 |
1-27057663-AG-A |
c.1373del |
p.G458Afs*161 |
Frameshift |
3/20 |
- |
1 |
1-27057665-G-A |
c.1373G>A |
p.G458D |
Missense |
3/20 |
- |
1 |
1-27057667-C-G |
c.1375C>G |
p.P459A |
Missense |
3/20 |
- |
1 |
1-27057668-C-A |
c.1376C>A |
p.P459H |
Missense |
3/20 |
- |
1 |
1-27057668-CC-AA |
c.1376_1377delinsAA |
p.P459Q |
Missense |
3/20 |
- |
1 |
1-27057668-C-G |
c.1376C>G |
p.P459R |
Missense |
3/20 |
- |
2 |
1-27057668-C-T |
c.1376C>T |
p.P459L |
Missense |
3/20 |
- |
5 |
1-27057665-GC-G |
c.1377del |
p.S460Afs*159 |
Frameshift |
3/20 |
- |
1 |
1-27057670-AGC-TGA |
c.1378_1380delinsTGA |
p.S460* |
Nonsense |
3/20 |
- |
1 |
1-27057672-C-T |
c.1380C>T |
p.S460= |
Synonymous |
3/20 |
- |
3 |
1-27057673-G-A |
c.1381G>A |
p.G461R |
Missense |
3/20 |
- |
5 |
1-27057673-G-C |
c.1381G>C |
p.G461R |
Missense |
3/20 |
- |
2 |
1-27057673-G-T |
c.1381G>T |
p.G461W |
Missense |
3/20 |
- |
1 |
1-27057674-G-A |
c.1382G>A |
p.G461E |
Missense |
3/20 |
- |
1 |
1-27057674-GG-AC |
c.1382_1383delinsAC |
p.G461D |
Missense |
3/20 |
- |
1 |
1-27057674-GGGTATGGTCA-G |
c.1382_1391del |
p.G461Dfs*155 |
Frameshift |
3/20 |
- |
1 |
1-27057672-CG-C |
c.1383del |
p.Y462Mfs*157 |
Frameshift |
3/20 |
- |
1 |
1-27057677-A-G |
c.1385A>G |
p.Y462C |
Missense |
3/20 |
- |
2 |
1-27057677-A-T |
c.1385A>T |
p.Y462F |
Missense |
3/20 |
- |
1 |
1-27057678-T-A |
c.1386T>A |
p.Y462* |
Nonsense |
3/20 |
- |
1 |
1-27057678-T-G |
c.1386T>G |
p.Y462* |
Nonsense |
3/20 |
- |
1 |
1-27057679-G-A |
c.1387G>A |
p.G463S |
Missense |
3/20 |
- |
1 |
1-27057680-G-A |
c.1388G>A |
p.G463D |
Missense |
3/20 |
- |
2 |
1-27057680-G-T |
c.1388G>T |
p.G463V |
Missense |
3/20 |
- |
3 |
1-27057682-C-T |
c.1390C>T |
p.Q464* |
Nonsense |
3/20 |
- |
9 |
1-27057685-AC-A |
c.1393del |
p.Q465Rfs*154 |
Frameshift |
3/20 |
- |
1 |
1-27057685-C-T |
c.1393C>T |
p.Q465* |
Nonsense |
3/20 |
- |
6 |
1-27057685-C-CA |
c.1394dup |
p.Q467Pfs*156 |
Frameshift |
3/20 |
- |
1 |
1-27057686-CA-C |
c.1394del |
p.Q465Rfs*154 |
Frameshift |
3/20 |
- |
2 |
1-27057688-G-A |
c.1396G>A |
p.G466S |
Missense |
3/20 |
- |
1 |
1-27057688-G-C |
c.1396G>C |
p.G466R |
Missense |
3/20 |
- |
1 |
1-27057688-GGGC-G |
c.1396_1398del |
p.G466del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057688-G-T |
c.1396G>T |
p.G466C |
Missense |
3/20 |
- |
1 |
1-27057689-G-A |
c.1397G>A |
p.G466D |
Missense |
3/20 |
- |
2 |
1-27057689-GC-AG |
c.1397_1398delinsAG |
p.G466E |
Missense |
3/20 |
- |
2 |
1-27057689-G-T |
c.1397G>T |
p.G466V |
Missense |
3/20 |
- |
3 |
1-27057691-C-T |
c.1399C>T |
p.Q467* |
Nonsense |
3/20 |
- |
2 |
1-27057692-A-G |
c.1400A>G |
p.Q467R |
Missense |
3/20 |
- |
2 |
1-27057692-A-T |
c.1400A>T |
p.Q467L |
Missense |
3/20 |
- |
1 |
1-27057692-CA-C |
c.1400del |
p.Q467Rfs*152 |
Frameshift |
3/20 |
- |
1 |
1-27057693-G-C |
c.1401G>C |
p.Q467H |
Missense |
3/20 |
- |
1 |
1-27057693-G-T |
c.1401G>T |
p.Q467H |
Missense |
3/20 |
- |
1 |
1-27057694-A-C |
c.1402A>C |
p.T468P |
Missense |
3/20 |
- |
2 |
1-27057694-A-G |
c.1402A>G |
p.T468A |
Missense |
3/20 |
- |
1 |
1-27057695-CT-TG |
c.1403_1404delinsTG |
p.T468M |
Missense |
3/20 |
- |
1 |
1-27057697-C-A |
c.1405C>A |
p.P469T |
Missense |
3/20 |
- |
1 |
1-27057697-C-G |
c.1405C>G |
p.P469A |
Missense |
3/20 |
- |
2 |
1-27057698-C-G |
c.1406C>G |
p.P469R |
Missense |
3/20 |
- |
1 |
1-27057698-C-T |
c.1406C>T |
p.P469L |
Missense |
3/20 |
- |
3 |
1-27057701-A-AT |
c.1411dup |
p.Y471Lfs*152 |
Frameshift |
3/20 |
- |
2 |
1-27057703-T-C |
c.1411T>C |
p.Y471H |
Missense |
3/20 |
- |
1 |
1-27057703-T-TA |
c.1412dup |
p.Y471* |
Nonsense |
3/20 |
- |
1 |
1-27057704-A-G |
c.1412A>G |
p.Y471C |
Missense |
3/20 |
- |
2 |
1-27057704-A-T |
c.1412A>T |
p.Y471F |
Missense |
3/20 |
- |
1 |
1-27057703-TAC-T |
c.1413_1414del |
p.Y471* |
Frameshift |
3/20 |
- |
1 |
1-27057705-C-A |
c.1413C>A |
p.Y471* |
Nonsense |
3/20 |
- |
3 |
1-27057705-C-G |
c.1413C>G |
p.Y471* |
Nonsense |
3/20 |
- |
2 |
1-27057706-A-C |
c.1414A>C |
p.N472H |
Missense |
3/20 |
- |
1 |
1-27057707-A-G |
c.1415A>G |
p.N472S |
Missense |
3/20 |
- |
1 |
1-27057708-C-T |
c.1416C>T |
p.N472= |
Synonymous |
3/20 |
- |
1 |
1-27057709-C-T |
c.1417C>T |
p.Q473* |
Nonsense |
3/20 |
- |
4 |
1-27057711-G-C |
c.1419G>C |
p.Q473H |
Missense |
3/20 |
- |
1 |
1-27057711-G-T |
c.1419G>T |
p.Q473H |
Missense |
3/20 |
- |
2 |
1-27057712-C-T |
c.1420C>T |
p.Q474* |
Nonsense |
3/20 |
- |
8 |
1-27057714-A-AGAAGCCTGCTGGCTGTTTGGAAGAACGC |
c.1422_1423insGAAGCCTGCTGGCTGTTTGGAAGAACGC |
p.S475Efs*157 |
Frameshift |
3/20 |
- |
1 |
1-27057715-AG-GC |
c.1423_1424delinsGC |
p.S475A |
Missense |
3/20 |
- |
1 |
1-27057716-AGTCCTCAC-A |
c.1424_1431del |
p.S475Tfs*145 |
Frameshift |
3/20 |
- |
1 |
1-27057716-G-A |
c.1424G>A |
p.S475N |
Missense |
3/20 |
- |
1 |
1-27057718-CCT-TAA |
c.1426_1428delinsTAA |
p.P476* |
Nonsense |
3/20 |
- |
1 |
1-27057719-C-G |
c.1427C>G |
p.P476R |
Missense |
3/20 |
- |
1 |
1-27057719-C-T |
c.1427C>T |
p.P476L |
Missense |
3/20 |
- |
1 |
1-27057718-CCT-C |
c.1428_1429del |
p.H477Pfs*145 |
Frameshift |
3/20 |
- |
1 |
1-27057720-CTCACCCTCAGCAGCAGCAGCCACCCTACTCCCAGCAACCA-C |
c.1428_1467del |
p.H477Rfs*129 |
Frameshift |
3/20 |
- |
1 |
1-27057720-T-TCG |
c.1429_1430insGC |
p.H477Rfs*143 |
Frameshift |
3/20 |
- |
1 |
1-27057721-C-A |
c.1429C>A |
p.H477N |
Missense |
3/20 |
- |
2 |
1-27057721-C-G |
c.1429C>G |
p.H477D |
Missense |
3/20 |
- |
1 |
1-27057722-A-G |
c.1430A>G |
p.H477R |
Missense |
3/20 |
- |
3 |
1-27057723-C-A |
c.1431C>A |
p.H477Q |
Missense |
3/20 |
- |
1 |
1-27057723-C-G |
c.1431C>G |
p.H477Q |
Missense |
3/20 |
- |
2 |
1-27057723-C-T |
c.1431C>T |
p.H477= |
Synonymous |
3/20 |
- |
1 |
1-27057722-ACCCT-A |
c.1432_1435del |
p.P478Sfs*140 |
Frameshift |
3/20 |
- |
1 |
1-27057724-C-T |
c.1432C>T |
p.P478S |
Missense |
3/20 |
- |
4 |
1-27057723-CCCT-C |
c.1433_1435del |
p.P478del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057725-C-T |
c.1433C>T |
p.P478L |
Missense |
3/20 |
- |
3 |
1-27057727-CA-GC |
c.1435_1436delinsGC |
p.Q479A |
Missense |
3/20 |
- |
1 |
1-27057727-C-G |
c.1435C>G |
p.Q479E |
Missense |
3/20 |
- |
5 |
1-27057727-C-T |
c.1435C>T |
p.Q479* |
Nonsense |
3/20 |
- |
30 |
1-27057728-A-G |
c.1436A>G |
p.Q479R |
Missense |
3/20 |
- |
1 |
1-27057729-G-A |
c.1437G>A |
p.Q479= |
Synonymous |
3/20 |
- |
1 |
1-27057729-G-C |
c.1437G>C |
p.Q479H |
Missense |
3/20 |
- |
1 |
1-27057730-C-T |
c.1438C>T |
p.Q480* |
Nonsense |
3/20 |
- |
7 |
1-27057731-A-G |
c.1439A>G |
p.Q480R |
Missense |
3/20 |
- |
1 |
1-27057732-G-A |
c.1440G>A |
p.Q480= |
Synonymous |
3/20 |
- |
1 |
1-27057733-C-G |
c.1441C>G |
p.Q481E |
Missense |
3/20 |
- |
1 |
1-27057733-C-T |
c.1441C>T |
p.Q481* |
Nonsense |
3/20 |
- |
3 |
1-27057734-A-G |
c.1442A>G |
p.Q481R |
Missense |
3/20 |
- |
1 |
1-27057734-AG-T |
c.1442_1443delinsT |
p.Q481Lfs*138 |
Frameshift |
3/20 |
- |
1 |
1-27057734-A-T |
c.1442A>T |
p.Q481L |
Missense |
3/20 |
- |
1 |
1-27057736-C-G |
c.1444C>G |
p.Q482E |
Missense |
3/20 |
- |
1 |
1-27057736-C-T |
c.1444C>T |
p.Q482* |
Nonsense |
3/20 |
- |
9 |
1-27057726-TCAG-T |
c.1445_1447del |
p.Q482del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057737-A-G |
c.1445A>G |
p.Q482R |
Missense |
3/20 |
- |
1 |
1-27057738-G-A |
c.1446G>A |
p.Q482= |
Synonymous |
3/20 |
- |
4 |
1-27057738-GC-G |
c.1448del |
p.P483Hfs*136 |
Frameshift |
3/20 |
- |
1 |
1-27057740-CA-T |
c.1448_1449delinsT |
p.P483Lfs*136 |
Frameshift |
3/20 |
- |
1 |
1-27057740-C-G |
c.1448C>G |
p.P483R |
Missense |
3/20 |
- |
1 |
1-27057742-C-A |
c.1450C>A |
p.P484T |
Missense |
3/20 |
- |
3 |
1-27057743-C-T |
c.1451C>T |
p.P484L |
Missense |
3/20 |
- |
3 |
1-27057744-C-T |
c.1452C>T |
p.P484= |
Synonymous |
3/20 |
- |
1 |
1-27057745-T-C |
c.1453T>C |
p.Y485H |
Missense |
3/20 |
- |
1 |
1-27057745-T-TAA |
c.1454_1455insAA |
p.Y485* |
Nonsense |
3/20 |
- |
1 |
1-27057746-A-G |
c.1454A>G |
p.Y485C |
Missense |
3/20 |
- |
2 |
1-27057747-ACTCCCAGC-A |
c.1455_1462del |
p.Y485* |
Frameshift |
3/20 |
- |
1 |
1-27057747-C-A |
c.1455C>A |
p.Y485* |
Nonsense |
3/20 |
- |
2 |
1-27057747-C-G |
c.1455C>G |
p.Y485* |
Nonsense |
3/20 |
- |
2 |
1-27057747-C-T |
c.1455C>T |
p.Y485= |
Synonymous |
3/20 |
- |
3 |
1-27057748-T-G |
c.1456T>G |
p.S486A |
Missense |
3/20 |
- |
1 |
1-27057749-C-A |
c.1457C>A |
p.S486Y |
Missense |
3/20 |
- |
1 |
1-27057749-C-G |
c.1457C>G |
p.S486C |
Missense |
3/20 |
- |
2 |
1-27057749-C-T |
c.1457C>T |
p.S486F |
Missense |
3/20 |
- |
2 |
1-27057748-TC-T |
c.1459del |
p.Q487Sfs*132 |
Frameshift |
3/20 |
- |
1 |
1-27057751-C-G |
c.1459C>G |
p.Q487E |
Missense |
3/20 |
- |
1 |
1-27057751-C-T |
c.1459C>T |
p.Q487* |
Nonsense |
3/20 |
- |
2 |
1-27057752-A-G |
c.1460A>G |
p.Q487R |
Missense |
3/20 |
- |
1 |
1-27057752-A-T |
c.1460A>T |
p.Q487L |
Missense |
3/20 |
- |
1 |
1-27057753-G-T |
c.1461G>T |
p.Q487H |
Missense |
3/20 |
- |
1 |
1-27057754-C-A |
c.1462C>A |
p.Q488K |
Missense |
3/20 |
- |
1 |
1-27057754-C-T |
c.1462C>T |
p.Q488* |
Nonsense |
3/20 |
- |
8 |
1-27057756-A-C |
c.1464A>C |
p.Q488H |
Missense |
3/20 |
- |
1 |
1-27057756-A-T |
c.1464A>T |
p.Q488H |
Missense |
3/20 |
- |
1 |
1-27057757-C-G |
c.1465C>G |
p.P489A |
Missense |
3/20 |
- |
1 |
1-27057757-C-T |
c.1465C>T |
p.P489S |
Missense |
3/20 |
- |
1 |
1-27057758-C-T |
c.1466C>T |
p.P489L |
Missense |
3/20 |
- |
1 |
1-27057760-ACCG-A |
c.1468_1470del |
p.P490del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057760-C-A |
c.1468C>A |
p.P490T |
Missense |
3/20 |
- |
1 |
1-27057760-C-T |
c.1468C>T |
p.P490S |
Missense |
3/20 |
- |
3 |
1-27057761-C-T |
c.1469C>T |
p.P490L |
Missense |
3/20 |
- |
7 |
1-27057762-G-A |
c.1470G>A |
p.P490= |
Synonymous |
3/20 |
- |
3 |
1-27057762-G-C |
c.1470G>C |
p.P490= |
Synonymous |
3/20 |
- |
2 |
1-27057762-G-T |
c.1470G>T |
p.P490= |
Synonymous |
3/20 |
- |
1 |
1-27057764-C-G |
c.1472C>G |
p.S491C |
Missense |
3/20 |
- |
1 |
1-27057765-C-A |
c.1473C>A |
p.S491= |
Synonymous |
3/20 |
- |
1 |
1-27057766-C-T |
c.1474C>T |
p.Q492* |
Nonsense |
3/20 |
- |
4 |
1-27057767-CA-C |
c.1475del |
p.Q492Rfs*127 |
Frameshift |
3/20 |
- |
2 |
1-27057768-G-C |
c.1476G>C |
p.Q492H |
Missense |
3/20 |
- |
2 |
1-27057768-G-T |
c.1476G>T |
p.Q492H |
Missense |
3/20 |
- |
2 |
1-27057769-A-T |
c.1477A>T |
p.T493S |
Missense |
3/20 |
- |
1 |
1-27057770-C-G |
c.1478C>G |
p.T493S |
Missense |
3/20 |
- |
1 |
1-27057772-C-A |
c.1480C>A |
p.P494T |
Missense |
3/20 |
- |
5 |
1-27057772-C-T |
c.1480C>T |
p.P494S |
Missense |
3/20 |
- |
1 |
1-27057775-C-A |
c.1483C>A |
p.H495N |
Missense |
3/20 |
- |
2 |
1-27057775-C-G |
c.1483C>G |
p.H495D |
Missense |
3/20 |
- |
1 |
1-27057775-C-T |
c.1483C>T |
p.H495Y |
Missense |
3/20 |
- |
4 |
1-27057777-T-A |
c.1485T>A |
p.H495Q |
Missense |
3/20 |
- |
1 |
1-27057777-T-G |
c.1485T>G |
p.H495Q |
Missense |
3/20 |
- |
2 |
1-27057778-G-A |
c.1486G>A |
p.A496T |
Missense |
3/20 |
- |
2 |
1-27057778-G-C |
c.1486G>C |
p.A496P |
Missense |
3/20 |
- |
1 |
1-27057778-G-T |
c.1486G>T |
p.A496S |
Missense |
3/20 |
- |
1 |
1-27057779-C-T |
c.1487C>T |
p.A496V |
Missense |
3/20 |
- |
1 |
1-27057780-C-G |
c.1488C>G |
p.A496= |
Synonymous |
3/20 |
- |
1 |
1-27057778-GC-G |
c.1489del |
p.Q497Nfs*122 |
Frameshift |
3/20 |
- |
1 |
1-27057781-C-G |
c.1489C>G |
p.Q497E |
Missense |
3/20 |
- |
1 |
1-27057781-C-T |
c.1489C>T |
p.Q497* |
Nonsense |
3/20 |
- |
6 |
1-27057782-A-C |
c.1490A>C |
p.Q497P |
Missense |
3/20 |
- |
1 |
1-27057782-A-G |
c.1490A>G |
p.Q497R |
Missense |
3/20 |
- |
1 |
1-27057783-A-G |
c.1491A>G |
p.Q497= |
Synonymous |
3/20 |
- |
1 |
1-27057784-C-T |
c.1492C>T |
p.P498S |
Missense |
3/20 |
- |
2 |
1-27057785-C-T |
c.1493C>T |
p.P498L |
Missense |
3/20 |
- |
1 |
1-27057787-T-A |
c.1495T>A |
p.S499T |
Missense |
3/20 |
- |
1 |
1-27057787-T-C |
c.1495T>C |
p.S499P |
Missense |
3/20 |
- |
2 |
1-27057788-C-A |
c.1496C>A |
p.S499* |
Nonsense |
3/20 |
- |
3 |
1-27057788-C-T |
c.1496C>T |
p.S499L |
Missense |
3/20 |
- |
9 |
1-27057789-G-A |
c.1497G>A |
p.S499= |
Synonymous |
3/20 |
- |
4 |
1-27057789-G-C |
c.1497G>C |
p.S499= |
Synonymous |
3/20 |
- |
4 |
1-27057789-G-T |
c.1497G>T |
p.S499= |
Synonymous |
3/20 |
- |
3 |
1-27057789-G-GT |
c.1498dup |
p.Y500Lfs*123 |
Frameshift |
3/20 |
- |
4 |
1-27057790-T-A |
c.1498T>A |
p.Y500N |
Missense |
3/20 |
- |
1 |
1-27057790-T-G |
c.1498T>G |
p.Y500D |
Missense |
3/20 |
- |
1 |
1-27057790-T-TA |
c.1499dup |
p.Y500* |
Nonsense |
3/20 |
- |
1 |
1-27057791-A-G |
c.1499A>G |
p.Y500C |
Missense |
3/20 |
- |
1 |
1-27057791-A-T |
c.1499A>T |
p.Y500F |
Missense |
3/20 |
- |
1 |
1-27057793-C-G |
c.1501C>G |
p.Q501E |
Missense |
3/20 |
- |
3 |
1-27057793-C-T |
c.1501C>T |
p.Q501* |
Nonsense |
3/20 |
- |
12 |
1-27057794-A-G |
c.1502A>G |
p.Q501R |
Missense |
3/20 |
- |
2 |
1-27057795-G-C |
c.1503G>C |
p.Q501H |
Missense |
3/20 |
- |
1 |
1-27057795-G-T |
c.1503G>T |
p.Q501H |
Missense |
3/20 |
- |
1 |
1-27057796-C-T |
c.1504C>T |
p.Q502* |
Nonsense |
3/20 |
- |
13 |
1-27057798-G-C |
c.1506G>C |
p.Q502H |
Missense |
3/20 |
- |
1 |
1-27057798-G-T |
c.1506G>T |
p.Q502H |
Missense |
3/20 |
- |
1 |
1-27057799-C-T |
c.1507C>T |
p.Q503* |
Nonsense |
3/20 |
- |
2 |
1-27057800-A-AAAGGCCCCAGCGGGTATGGTCAACAGGGC |
c.1508_1509insAAGGCCCCAGCGGGTATGGTCAACAGGGC |
p.P504Rfs*125 |
Frameshift |
3/20 |
- |
1 |
1-27057800-A-T |
c.1508A>T |
p.Q503L |
Missense |
3/20 |
- |
1 |
1-27057801-G-A |
c.1509G>A |
p.Q503= |
Synonymous |
3/20 |
- |
1 |
1-27057802-C-G |
c.1510C>G |
p.P504A |
Missense |
3/20 |
- |
1 |
1-27057802-C-T |
c.1510C>T |
p.P504S |
Missense |
3/20 |
- |
5 |
1-27057801-GCCA-G |
c.1511_1513del |
p.P504del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057803-C-A |
c.1511C>A |
p.P504Q |
Missense |
3/20 |
- |
1 |
1-27057803-C-G |
c.1511C>G |
p.P504R |
Missense |
3/20 |
- |
1 |
1-27057803-C-T |
c.1511C>T |
p.P504L |
Missense |
3/20 |
- |
4 |
1-27057804-A-G |
c.1512A>G |
p.P504= |
Synonymous |
3/20 |
- |
1 |
1-27057804-CA-C |
c.1512del |
p.Q505Sfs*114 |
Frameshift |
3/20 |
- |
1 |
1-27057802-CCA-C |
c.1513_1514del |
p.Q505Vfs*117 |
Frameshift |
3/20 |
- |
3 |
1-27057803-C-CACCTCACTCTGTTGCCT |
c.1513_1514insCTCACTCTGTTGCCTAC |
p.Q505Pfs*120 |
Frameshift |
3/20 |
- |
1 |
1-27057805-C-A |
c.1513C>A |
p.Q505K |
Missense |
3/20 |
- |
1 |
1-27057805-C-G |
c.1513C>G |
p.Q505E |
Missense |
3/20 |
- |
2 |
1-27057805-C-T |
c.1513C>T |
p.Q505* |
Nonsense |
3/20 |
- |
3 |
1-27057806-A-T |
c.1514A>T |
p.Q505L |
Missense |
3/20 |
- |
3 |
1-27057807-AGTCT-A |
c.1515_1518del |
p.Q505Hfs*113 |
Frameshift |
3/20 |
- |
3 |
1-27057807-G-GCCTCACTCTGTTGCCTA |
c.1515_1516insCCTCACTCTGTTGCCTA |
p.S506Pfs*119 |
Frameshift |
3/20 |
- |
1 |
1-27057808-T-A |
c.1516T>A |
p.S506T |
Missense |
3/20 |
- |
1 |
1-27057808-TC-CT |
c.1516_1517delinsCT |
p.S506L |
Missense |
3/20 |
- |
1 |
1-27057808-T-G |
c.1516T>G |
p.S506A |
Missense |
3/20 |
- |
1 |
1-27057809-C-T |
c.1517C>T |
p.S506F |
Missense |
3/20 |
- |
1 |
1-27057811-C-G |
c.1519C>G |
p.Q507E |
Missense |
3/20 |
- |
1 |
1-27057811-C-T |
c.1519C>T |
p.Q507* |
Nonsense |
3/20 |
- |
18 |
1-27057812-A-G |
c.1520A>G |
p.Q507R |
Missense |
3/20 |
- |
1 |
1-27057813-A-AGC |
c.1521_1522insGC |
p.P508Afs*112 |
Frameshift |
3/20 |
- |
1 |
1-27057813-A-C |
c.1521A>C |
p.Q507H |
Missense |
3/20 |
- |
2 |
1-27057813-A-G |
c.1521A>G |
p.Q507= |
Synonymous |
3/20 |
- |
1 |
1-27057813-A-T |
c.1521A>T |
p.Q507H |
Missense |
3/20 |
- |
2 |
1-27057814-C-G |
c.1522C>G |
p.P508A |
Missense |
3/20 |
- |
1 |
1-27057814-C-T |
c.1522C>T |
p.P508S |
Missense |
3/20 |
- |
3 |
1-27057815-C-A |
c.1523C>A |
p.P508Q |
Missense |
3/20 |
- |
2 |
1-27057817-C-G |
c.1525C>G |
p.P509A |
Missense |
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 |
1-27057820-C-A |
c.1528C>A |
p.Q510K |
Missense |
3/20 |
- |
1 |
1-27057820-C-T |
c.1528C>T |
p.Q510* |
Nonsense |
3/20 |
- |
5 |
1-27057819-ACAGCTCCAGTCCT-A |
c.1529_1541del |
p.Q510Lfs*105 |
Frameshift |
3/20 |
- |
1 |
1-27057821-A-C |
c.1529A>C |
p.Q510P |
Missense |
3/20 |
- |
2 |
1-27057822-G-A |
c.1530G>A |
p.Q510= |
Synonymous |
3/20 |
- |
2 |
1-27057823-C-A |
c.1531C>A |
p.L511I |
Missense |
3/20 |
- |
1 |
1-27057823-C-T |
c.1531C>T |
p.L511F |
Missense |
3/20 |
- |
1 |
1-27057825-C-T |
c.1533C>T |
p.L511= |
Synonymous |
3/20 |
- |
1 |
1-27057826-C-A |
c.1534C>A |
p.Q512K |
Missense |
3/20 |
- |
1 |
1-27057826-C-T |
c.1534C>T |
p.Q512* |
Nonsense |
3/20 |
- |
10 |
1-27057828-G-C |
c.1536G>C |
p.Q512H |
Missense |
3/20 |
- |
1 |
1-27057828-G-T |
c.1536G>T |
p.Q512H |
Missense |
3/20 |
- |
1 |
1-27057829-T-A |
c.1537T>A |
p.S513T |
Missense |
3/20 |
- |
1 |
1-27057830-C-A |
c.1538C>A |
p.S513Y |
Missense |
3/20 |
- |
1 |
1-27057830-C-T |
c.1538C>T |
p.S513F |
Missense |
3/20 |
- |
3 |
1-27057829-TC-T |
c.1539del |
p.S514Lfs*105 |
Frameshift |
3/20 |
- |
1 |
1-27057834-T-A |
c.1542T>A |
p.S514= |
Synonymous |
3/20 |
- |
1 |
1-27057834-T-C |
c.1542T>C |
p.S514= |
Synonymous |
3/20 |
- |
1 |
1-27057834-T-G |
c.1542T>G |
p.S514= |
Synonymous |
3/20 |
- |
1 |
1-27057835-C-T |
c.1543C>T |
p.Q515* |
Nonsense |
3/20 |
- |
29 |
1-27057835-TCA-T |
c.1543_1544del |
p.Q515Afs*107 |
Frameshift |
3/20 |
- |
1 |
1-27057835-C-CA |
c.1544dup |
p.P516Afs*107 |
Frameshift |
3/20 |
- |
1 |
1-27057837-G-C |
c.1545G>C |
p.Q515H |
Missense |
3/20 |
- |
1 |
1-27057837-G-T |
c.1545G>T |
p.Q515H |
Missense |
3/20 |
- |
1 |
1-27057838-C-G |
c.1546C>G |
p.P516A |
Missense |
3/20 |
- |
2 |
1-27057838-C-T |
c.1546C>T |
p.P516S |
Missense |
3/20 |
- |
1 |
1-27057839-C-G |
c.1547C>G |
p.P516R |
Missense |
3/20 |
- |
1 |
1-27057839-C-T |
c.1547C>T |
p.P516L |
Missense |
3/20 |
- |
2 |
1-27057840-T-A |
c.1548T>A |
p.P516= |
Synonymous |
3/20 |
- |
1 |
1-27057840-T-C |
c.1548T>C |
p.P516= |
Synonymous |
3/20 |
- |
1 |
1-27057840-T-G |
c.1548T>G |
p.P516= |
Synonymous |
3/20 |
- |
1 |
1-27057841-C-G |
c.1549C>G |
p.P517A |
Missense |
3/20 |
- |
1 |
1-27057841-C-T |
c.1549C>T |
p.P517S |
Missense |
3/20 |
- |
2 |
1-27057840-TC-T |
c.1550del |
p.P517Hfs*102 |
Frameshift |
3/20 |
- |
1 |
1-27057843-A-AT |
c.1552dup |
p.Y518Lfs*105 |
Frameshift |
3/20 |
- |
1 |
1-27057845-A-G |
c.1553A>G |
p.Y518C |
Missense |
3/20 |
- |
1 |
1-27057845-A-T |
c.1553A>T |
p.Y518F |
Missense |
3/20 |
- |
2 |
1-27057846-ACTCCCAGCAGCC-A |
c.1554_1565del |
p.Y518_P522delins* |
MultiAAMissense |
3/20 |
- |
1 |
1-27057846-C-A |
c.1554C>A |
p.Y518* |
Nonsense |
3/20 |
- |
2 |
1-27057846-C-G |
c.1554C>G |
p.Y518* |
Nonsense |
3/20 |
- |
2 |
1-27057846-C-T |
c.1554C>T |
p.Y518= |
Synonymous |
3/20 |
- |
1 |
1-27057847-T-C |
c.1555T>C |
p.S519P |
Missense |
3/20 |
- |
2 |
1-27057848-CC-AA |
c.1556_1557delinsAA |
p.S519* |
Nonsense |
3/20 |
- |
1 |
1-27057849-C-A |
c.1557C>A |
p.S519= |
Synonymous |
3/20 |
- |
2 |
1-27057849-C-G |
c.1557C>G |
p.S519= |
Synonymous |
3/20 |
- |
2 |
1-27057849-C-T |
c.1557C>T |
p.S519= |
Synonymous |
3/20 |
- |
3 |
1-27057847-TCCCAGCAGCCATC-T |
c.1558_1570del |
p.Q520Sfs*95 |
Frameshift |
3/20 |
- |
1 |
1-27057847-TC-T |
c.1558del |
p.Q520Sfs*99 |
Frameshift |
3/20 |
- |
5 |
1-27057850-C-T |
c.1558C>T |
p.Q520* |
Nonsense |
3/20 |
- |
2 |
1-27057853-C-A |
c.1561C>A |
p.Q521K |
Missense |
3/20 |
- |
1 |
1-27057853-C-T |
c.1561C>T |
p.Q521* |
Nonsense |
3/20 |
- |
10 |
1-27057854-A-G |
c.1562A>G |
p.Q521R |
Missense |
3/20 |
- |
1 |
1-27057854-CAGCCA-C |
c.1562_1566del |
p.Q521Lfs*100 |
Frameshift |
3/20 |
- |
1 |
1-27057856-C-T |
c.1564C>T |
p.P522S |
Missense |
3/20 |
- |
1 |
1-27057856-GCCA-G |
c.1564_1566del |
p.P522del |
InFrameDeletion |
3/20 |
- |
1 |
1-27057859-T-A |
c.1567T>A |
p.S523T |
Missense |
3/20 |
- |
1 |
1-27057859-T-C |
c.1567T>C |
p.S523P |
Missense |
3/20 |
- |
1 |
1-27057859-T-G |
c.1567T>G |
p.S523A |
Missense |
3/20 |
- |
1 |
1-27057860-C-G |
c.1568C>G |
p.S523C |
Missense |
3/20 |
- |
2 |
1-27057860-C-T |
c.1568C>T |
p.S523F |
Missense |
3/20 |
- |
1 |
1-27057862-C-A |
c.1570C>A |
p.Q524K |
Missense |
3/20 |
- |
2 |
1-27057862-C-T |
c.1570C>T |
p.Q524* |
Nonsense |
3/20 |
- |
8 |
1-27057863-A-G |
c.1571A>G |
p.Q524R |
Missense |
3/20 |
- |
1 |
1-27057863-A-T |
c.1571A>T |
p.Q524L |
Missense |
3/20 |
- |
1 |
1-27057864-G-C |
c.1572G>C |
p.Q524H |
Missense |
3/20 |
- |
1 |
1-27057864-G-T |
c.1572G>T |
p.Q524H |
Missense |
3/20 |
- |
1 |
1-27057865-C-A |
c.1573C>A |
p.P525T |
Missense |
3/20 |
- |
1 |
1-27057865-C-G |
c.1573C>G |
p.P525A |
Missense |
3/20 |
- |
1 |
1-27057865-C-T |
c.1573C>T |
p.P525S |
Missense |
3/20 |
- |
1 |
1-27057868-C-G |
c.1576C>G |
p.P526A |
Missense |
3/20 |
- |
1 |
1-27057868-C-T |
c.1576C>T |
p.P526S |
Missense |
3/20 |
- |
1 |
1-27057869-C-T |
c.1577C>T |
p.P526L |
Missense |
3/20 |
- |
5 |
1-27057871-C-G |
c.1579C>G |
p.H527D |
Missense |
3/20 |
- |
1 |
1-27057871-C-T |
c.1579C>T |
p.H527Y |
Missense |
3/20 |
- |
1 |
1-27057872-CATCAGCAGTCCCCGGCTCCATACCCCTCCCAGCAGTCGACGACACAGCAGCACCCCCAG-C |
c.1581_1639del |
p.H527Qfs*76 |
InFrameDeletion |
3/20 |
- |
1 |
1-27057873-T-A |
c.1581T>A |
p.H527Q |
Missense |
3/20 |
- |
1 |
1-27057874-C-G |
c.1582C>G |
p.Q528E |
Missense |
3/20 |
- |
1 |
1-27057874-C-T |
c.1582C>T |
p.Q528* |
Nonsense |
3/20 |
- |
26 |
1-27057875-A-T |
c.1583A>T |
p.Q528L |
Missense |
3/20 |
- |
4 |
1-27057876-G-C |
c.1584G>C |
p.Q528H |
Missense |
3/20 |
- |
1 |
1-27057876-G-T |
c.1584G>T |
p.Q528H |
Missense |
3/20 |
- |
1 |
1-27057877-C-T |
c.1585C>T |
p.Q529* |
Nonsense |
3/20 |
- |
6 |
1-27057878-A-G |
c.1586A>G |
p.Q529R |
Missense |
3/20 |
- |
1 |
1-27057879-G-C |
c.1587G>C |
p.Q529H |
Missense |
3/20 |
- |
1 |
1-27057879-G-T |
c.1587G>T |
p.Q529H |
Missense |
3/20 |
- |
1 |
1-27057881-C-T |
c.1589C>T |
p.S530F |
Missense |
3/20 |
- |
2 |
1-27057883-C-A |
c.1591C>A |
p.P531T |
Missense |
3/20 |
- |
1 |
1-27057883-C-T |
c.1591C>T |
p.P531S |
Missense |
3/20 |
- |
1 |
1-27057884-C-T |
c.1592C>T |
p.P531L |
Missense |
3/20 |
- |
11 |
1-27057885-G-A |
c.1593G>A |
p.P531= |
Synonymous |
3/20 |
- |
3 |
1-27057885-G-C |
c.1593G>C |
p.P531= |
Synonymous |
3/20 |
- |
2 |
1-27057885-G-T |
c.1593G>T |
p.P531= |
Synonymous |
3/20 |
- |
2 |
1-27057886-G-A |
c.1594G>A |
p.A532T |
Missense |
3/20 |
- |
3 |
1-27057887-C-T |
c.1595C>T |
p.A532V |
Missense |
3/20 |
- |
3 |
1-27057888-T-C |
c.1596T>C |
p.A532= |
Synonymous |
3/20 |
- |
1 |
1-27057889-C-A |
c.1597C>A |
p.P533T |
Missense |
3/20 |
- |
1 |
1-27057889-C-G |
c.1597C>G |
p.P533A |
Missense |
3/20 |
- |
4 |
1-27057889-C-T |
c.1597C>T |
p.P533S |
Missense |
3/20 |
- |
7 |
1-27057890-C-T |
c.1598C>T |
p.P533L |
Missense |
3/20 |
- |
1 |
1-27057888-TCCATA-T |
c.1599_1603del |
p.Y534Lfs*87 |
Frameshift |
3/20 |
- |
1 |
1-27057892-T-A |
c.1600T>A |
p.Y534N |
Missense |
3/20 |
- |
1 |
1-27057894-C-A |
c.1602C>A |
p.Y534* |
Nonsense |
3/20 |
- |
4 |
1-27057894-C-G |
c.1602C>G |
p.Y534* |
Nonsense |
3/20 |
- |
5 |
1-27057895-C-A |
c.1603C>A |
p.P535T |
Missense |
3/20 |
- |
2 |
1-27057895-CC-TT |
c.1603_1604delinsTT |
p.P535F |
Missense |
3/20 |
- |
1 |
1-27057896-C-T |
c.1604C>T |
p.P535L |
Missense |
3/20 |
- |
2 |
1-27057893-AC-A |
c.1605del |
p.S536Pfs*83 |
Frameshift |
3/20 |
- |
1 |
1-27057898-CT-C |
c.1606del |
p.S536Pfs*83 |
Frameshift |
3/20 |
- |
1 |
1-27057898-T-C |
c.1606T>C |
p.S536P |
Missense |
3/20 |
- |
3 |
1-27057899-C-T |
c.1607C>T |
p.S536F |
Missense |
3/20 |
- |
2 |
1-27057901-C-T |
c.1609C>T |
p.Q537* |
Nonsense |
3/20 |
- |
13 |
1-27057902-A-G |
c.1610A>G |
p.Q537R |
Missense |
3/20 |
- |
1 |
1-27057903-G-A |
c.1611G>A |
p.Q537= |
Synonymous |
3/20 |
- |
1 |
1-27057904-C-A |
c.1612C>A |
p.Q538K |
Missense |
3/20 |
- |
1 |
1-27057904-C-T |
c.1612C>T |
p.Q538* |
Nonsense |
3/20 |
- |
11 |
1-27057907-T-A |
c.1615T>A |
p.S539T |
Missense |
3/20 |
- |
1 |
1-27057908-C-A |
c.1616C>A |
p.S539* |
Nonsense |
3/20 |
- |
3 |
1-27057908-C-G |
c.1616C>G |
p.S539W |
Missense |
3/20 |
- |
2 |
1-27057908-C-T |
c.1616C>T |
p.S539L |
Missense |
3/20 |
- |
4 |
1-27057909-G-A |
c.1617G>A |
p.S539= |
Synonymous |
3/20 |
- |
1 |
1-27057909-G-T |
c.1617G>T |
p.S539= |
Synonymous |
3/20 |
- |
1 |
1-27057910-A-C |
c.1618A>C |
p.T540P |
Missense |
3/20 |
- |
1 |
1-27057911-C-G |
c.1619C>G |
p.T540R |
Missense |
3/20 |
- |
1 |
1-27057911-C-T |
c.1619C>T |
p.T540M |
Missense |
3/20 |
- |
4 |
1-27057912-G-A |
c.1620G>A |
p.T540= |
Synonymous |
3/20 |
- |
3 |
1-27057912-G-C |
c.1620G>C |
p.T540= |
Synonymous |
3/20 |
- |
2 |
1-27057912-G-T |
c.1620G>T |
p.T540= |
Synonymous |
3/20 |
- |
2 |
1-27057914-C-T |
c.1622C>T |
p.T541I |
Missense |
3/20 |
- |
1 |
1-27057912-GAC-G |
c.1624_1625del |
p.Q542Afs*80 |
Frameshift |
3/20 |
- |
1 |
1-27057916-CA-GT |
c.1624_1625delinsGT |
p.Q542V |
Missense |
3/20 |
- |
1 |
1-27057916-C-G |
c.1624C>G |
p.Q542E |
Missense |
3/20 |
- |
1 |
1-27057916-C-T |
c.1624C>T |
p.Q542* |
Nonsense |
3/20 |
- |
9 |
1-27057918-AGCAG-A |
c.1626_1629del |
p.Q542Hfs*76 |
Frameshift |
3/20 |
- |
1 |
1-27057919-C-T |
c.1627C>T |
p.Q543* |
Nonsense |
3/20 |
- |
7 |
1-27057921-G-C |
c.1629G>C |
p.Q543H |
Missense |
3/20 |
- |
1 |
1-27057921-G-T |
c.1629G>T |
p.Q543H |
Missense |
3/20 |
- |
1 |
1-27057922-C-T |
c.1630C>T |
p.H544Y |
Missense |
3/20 |
- |
1 |
1-27057924-C-A |
c.1632C>A |
p.H544Q |
Missense |
3/20 |
- |
2 |
1-27057924-C-G |
c.1632C>G |
p.H544Q |
Missense |
3/20 |
- |
2 |
1-27057924-C-T |
c.1632C>T |
p.H544= |
Synonymous |
3/20 |
- |
5 |
1-27057925-C-T |
c.1633C>T |
p.P545S |
Missense |
3/20 |
- |
1 |
1-27057926-C-A |
c.1634C>A |
p.P545H |
Missense |
3/20 |
- |
2 |
1-27057926-C-T |
c.1634C>T |
p.P545L |
Missense |
3/20 |
- |
1 |
1-27057923-A-AC |
c.1636dup |
p.Q546Pfs*77 |
Frameshift |
3/20 |
- |
2 |
1-27057923-AC-A |
c.1636del |
p.Q546Rfs*73 |
Frameshift |
3/20 |
- |
3 |
1-27057928-C-A |
c.1636C>A |
p.Q546K |
Missense |
3/20 |
- |
7 |
1-27057928-C-G |
c.1636C>G |
p.Q546E |
Missense |
3/20 |
- |
2 |
1-27057928-C-T |
c.1636C>T |
p.Q546* |
Nonsense |
3/20 |
- |
6 |
1-27057929-A-C |
c.1637A>C |
p.Q546P |
Missense |
3/20 |
- |
1 |
1-27057929-A-G |
c.1637A>G |
p.Q546R |
Missense |
3/20 |
- |
3 |
1-27057929-CA-C |
c.1637del |
p.Q546Rfs*73 |
Frameshift |
3/20 |
- |
1 |
1-27057930-G-C |
c.1638G>C |
p.Q546H |
Missense |
3/20 |
- |
1 |
1-27057930-G-GC |
c.1638_1639insC |
p.S547Qfs*76 |
Frameshift |
3/20 |
- |
1 |
1-27057930-G-T |
c.1638G>T |
p.Q546H |
Missense |
3/20 |
- |
2 |
1-27057931-AG-CC |
c.1639_1640delinsCC |
p.S547P |
Missense |
3/20 |
- |
1 |
1-27057931-AG-CT |
c.1639_1640inv |
p.S547L |
Missense |
3/20 |
- |
1 |
1-27057932-G-A |
c.1640G>A |
p.S547N |
Missense |
3/20 |
- |
1 |
1-27057934-C-A |
c.1642C>A |
p.Q548K |
Missense |
3/20 |
- |
1 |
1-27057934-C-T |
c.1642C>T |
p.Q548* |
Nonsense |
3/20 |
- |
16 |
1-27057935-A-G |
c.1643A>G |
p.Q548R |
Missense |
3/20 |
- |
1 |
1-27057936-G-A |
c.1644G>A |
p.Q548= |
Synonymous |
3/20 |
- |
1 |
1-27057937-C-T |
c.1645C>T |
p.P549S |
Missense |
3/20 |
- |
2 |
1-27057938-C-A |
c.1646C>A |
p.P549H |
Missense |
3/20 |
- |
2 |
1-27057938-C-T |
c.1646C>T |
p.P549L |
Missense |
3/20 |
- |
1 |
1-27057940-C-T |
c.1648C>T |
p.P550S |
Missense |
3/20 |
- |
2 |
1-27057941-C-A |
c.1649C>A |
p.P550H |
Missense |
3/20 |
- |
1 |
1-27057941-C-G |
c.1649C>G |
p.P550R |
Missense |
3/20 |
- |
1 |
1-27057941-C-T |
c.1649C>T |
p.P550L |
Missense |
3/20 |
- |
1 |
1-27057936-GC-G |
c.1650del |
p.Y551Tfs*68 |
Frameshift |
3/20 |
- |
10 |
1-27057936-G-GC |
c.1650dup |
p.Y551Lfs*72 |
Frameshift |
3/20 |
- |
11 |
1-27057942-C-CT |
c.1651dup |
p.Y551Lfs*72 |
Frameshift |
3/20 |
- |
1 |
1-27057943-T-A |
c.1651T>A |
p.Y551N |
Missense |
3/20 |
- |
2 |
1-27057943-T-C |
c.1651T>C |
p.Y551H |
Missense |
3/20 |
- |
1 |
1-27057943-T-TA |
c.1652dup |
p.Y551* |
Nonsense |
3/20 |
- |
3 |
1-27057944-A-C |
c.1652A>C |
p.Y551S |
Missense |
3/20 |
- |
1 |
1-27057944-A-G |
c.1652A>G |
p.Y551C |
Missense |
3/20 |
- |
3 |
1-27057945-C-A |
c.1653C>A |
p.Y551* |
Nonsense |
3/20 |
- |
2 |
1-27057945-C-G |
c.1653C>G |
p.Y551* |
Nonsense |
3/20 |
- |
3 |
1-27057946-CT-C |
c.1654del |
p.S552Hfs*67 |
Frameshift |
3/20 |
- |
1 |
1-27057947-C-A |
c.1655C>A |
p.S552* |
Nonsense |
3/20 |
- |
7 |
1-27057947-C-G |
c.1655C>G |
p.S552* |
Nonsense |
3/20 |
- |
12 |
1-27057947-C-T |
c.1655C>T |
p.S552L |
Missense |
3/20 |
- |
7 |
1-27057947-C-CA |
c.1656dup |
p.Q553Tfs*70 |
Frameshift |
3/20 |
- |
5 |
1-27057949-C-A |
c.1657C>A |
p.Q553K |
Missense |
3/20 |
- |
3 |
1-27057949-C-G |
c.1657C>G |
p.Q553E |
Missense |
3/20 |
- |
3 |
1-27057949-C-T |
c.1657C>T |
p.Q553* |
Nonsense |
3/20 |
- |
8 |
1-27057950-A-G |
c.1658A>G |
p.Q553R |
Missense |
3/20 |
- |
1 |
1-27057951-G-A |
c.1659G>A |
p.Q553= |
Synonymous |
3/20 |
- |
1 |
1-27057952-C-A |
c.1660C>A |
p.P554T |
Missense |
3/20 |
- |
1 |
1-27057951-GC-G |
c.1661del |
p.P554Hfs*65 |
Frameshift |
3/20 |
- |
2 |
1-27057953-C-G |
c.1661C>G |
p.P554R |
Missense |
3/20 |
- |
1 |
1-27057953-C-T |
c.1661C>T |
p.P554L |
Missense |
3/20 |
- |
1 |
1-27057955-C-A |
c.1663C>A |
p.Q555K |
Missense |
3/20 |
- |
1 |
1-27057955-C-T |
c.1663C>T |
p.Q555* |
Nonsense |
3/20 |
- |
11 |
1-27057956-A-T |
c.1664A>T |
p.Q555L |
Missense |
3/20 |
- |
1 |
1-27057959-C-T |
c.1667C>T |
p.A556V |
Missense |
3/20 |
- |
1 |
1-27057960-T-A |
c.1668T>A |
p.A556= |
Synonymous |
3/20 |
- |
1 |
1-27057960-T-G |
c.1668T>G |
p.A556= |
Synonymous |
3/20 |
- |
1 |
1-27057961-C-T |
c.1669C>T |
p.Q557* |
Nonsense |
3/20 |
- |
21 |
1-27057961-C-CA |
c.1670dup |
p.S558Vfs*65 |
Frameshift |
3/20 |
- |
1 |
1-27057964-GT-G |
c.1672del |
p.S558Lfs*61 |
Frameshift |
3/20 |
- |
1 |
1-27057967-C-G |
c.1675C>G |
p.P559A |
Missense |
3/20 |
- |
1 |
1-27057967-C-T |
c.1675C>T |
p.P559S |
Missense |
3/20 |
- |
1 |
1-27057967-TCC-T |
c.1675_1676del |
p.P559Lfs*63 |
Frameshift |
3/20 |
- |
1 |
1-27057968-C-T |
c.1676C>T |
p.P559L |
Missense |
3/20 |
- |
1 |
1-27057969-T-C |
c.1677T>C |
p.P559= |
Synonymous |
3/20 |
- |
1 |
1-27057970-T-A |
c.1678T>A |
p.Y560N |
Missense |
3/20 |
- |
1 |
1-27057970-TTACCA-T |
c.1678_1682del |
p.Y560Afs*61 |
Frameshift |
3/20 |
- |
1 |
1-27057970-T-TA |
c.1679dup |
p.Y560* |
Nonsense |
3/20 |
- |
1 |
1-27057972-C-A |
c.1680C>A |
p.Y560* |
Nonsense |
3/20 |
- |
10 |
1-27057972-C-G |
c.1680C>G |
p.Y560* |
Nonsense |
3/20 |
- |
7 |
1-27057973-C-A |
c.1681C>A |
p.Q561K |
Missense |
3/20 |
- |
1 |
1-27057973-C-T |
c.1681C>T |
p.Q561* |
Nonsense |
3/20 |
- |
9 |
1-27057975-G-C |
c.1683G>C |
p.Q561H |
Missense |
3/20 |
- |
2 |
1-27057975-G-T |
c.1683G>T |
p.Q561H |
Missense |
3/20 |
- |
1 |
1-27057976-C-G |
c.1684C>G |
p.Q562E |
Missense |
3/20 |
- |
2 |
1-27057976-C-T |
c.1684C>T |
p.Q562* |
Nonsense |
3/20 |
- |
3 |
1-27057979-C-T |
c.1687C>T |
p.Q563* |
Nonsense |
3/20 |
- |
3 |
1-27057980-A-C |
c.1688A>C |
p.Q563P |
Missense |
3/20 |
- |
2 |
1-27057980-A-G |
c.1688A>G |
p.Q563R |
Missense |
3/20 |
- |
1 |
1-27057981-G-T |
c.1689G>T |
p.Q563H |
Missense |
3/20 |
- |
1 |
1-27057981-G-GC |
c.1690dup |
p.Q564Pfs*59 |
Frameshift |
3/20 |
- |
1 |
1-27057982-C-T |
c.1690C>T |
p.Q564* |
Nonsense |
3/20 |
- |
2 |
1-27057985-C-T |
c.1693C>T |
p.P565S |
Missense |
3/20 |
- |
3 |
1-27057986-C-A |
c.1694C>A |
p.P565H |
Missense |
3/20 |
- |
1 |
1-27057986-C-T |
c.1694C>T |
p.P565L |
Missense |
3/20 |
- |
1 |
1-27057988-C-A |
c.1696C>A |
p.Q566K |
Missense |
3/20 |
- |
1 |
1-27057988-C-T |
c.1696C>T |
p.Q566* |
Nonsense |
3/20 |
- |
22 |
1-27057989-A-G |
c.1697A>G |
p.Q566R |
Missense |
3/20 |
- |
1 |
1-27057990-G-A |
c.1698G>A |
p.Q566= |
Synonymous |
3/20 |
- |
1 |
1-27057990-GC-AT |
c.1698_1699delinsAT |
p.Q567* |
Missense |
3/20 |
- |
1 |
1-27057991-C-A |
c.1699C>A |
p.Q567K |
Missense |
3/20 |
- |
3 |
1-27057991-C-T |
c.1699C>T |
p.Q567* |
Nonsense |
3/20 |
- |
4 |
1-27057991-GC-G |
c.1699del |
p.Q567Sfs*52 |
Frameshift |
3/20 |
- |
2 |
1-27057992-A-AG |
c.1701dup |
p.P568Afs*55 |
Frameshift |
3/20 |
- |
1 |
1-27057994-C-G |
c.1702C>G |
p.P568A |
Missense |
3/20 |
- |
1 |
1-27057994-C-T |
c.1702C>T |
p.P568S |
Missense |
3/20 |
- |
3 |
1-27057993-G-GC |
c.1703dup |
p.A569Sfs*54 |
Frameshift |
3/20 |
- |
1 |
1-27057995-C-T |
c.1703C>T |
p.P568L |
Missense |
3/20 |
- |
2 |
1-27057996-A-G |
c.1704A>G |
p.P568= |
Synonymous |
3/20 |
- |
1 |
1-27057997-G-A |
c.1705G>A |
p.A569T |
Missense |
3/20 |
- |
3 |
1-27057997-G-T |
c.1705G>T |
p.A569S |
Missense |
3/20 |
- |
1 |
1-27057998-C-G |
c.1706C>G |
p.A569G |
Missense |
3/20 |
- |
1 |
1-27057998-C-T |
c.1706C>T |
p.A569V |
Missense |
3/20 |
- |
2 |
1-27058000-C-A |
c.1708C>A |
p.P570T |
Missense |
3/20 |
- |
4 |
1-27058000-C-T |
c.1708C>T |
p.P570S |
Missense |
3/20 |
- |
5 |
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 |
- |
4 |
1-27058005-G-A |
c.1713G>A |
p.S571= |
Synonymous |
3/20 |
- |
1 |
1-27058005-G-C |
c.1713G>C |
p.S571= |
Synonymous |
3/20 |
- |
1 |
1-27058005-G-T |
c.1713G>T |
p.S571= |
Synonymous |
3/20 |
- |
1 |
1-27058006-A-T |
c.1714A>T |
p.T572S |
Missense |
3/20 |
- |
4 |
1-27058007-C-A |
c.1715C>A |
p.T572K |
Missense |
3/20 |
- |
2 |
1-27058007-C-T |
c.1715C>T |
p.T572M |
Missense |
3/20 |
- |
5 |
1-27058009-C-G |
c.1717C>G |
p.L573V |
Missense |
3/20 |
- |
4 |
1-27058010-T-C |
c.1718T>C |
p.L573P |
Missense |
3/20 |
- |
1 |
1-27058011-C-A |
c.1719C>A |
p.L573= |
Synonymous |
3/20 |
- |
2 |
1-27058011-C-G |
c.1719C>G |
p.L573= |
Synonymous |
3/20 |
- |
2 |
1-27058011-C-T |
c.1719C>T |
p.L573= |
Synonymous |
3/20 |
- |
3 |
1-27058013-C-G |
c.1721C>G |
p.S574C |
Missense |
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 |
- |
6 |
1-27058018-C-G |
c.1726C>G |
p.Q576E |
Missense |
3/20 |
- |
2 |
1-27058018-C-T |
c.1726C>T |
p.Q576* |
Nonsense |
3/20 |
- |
1 |
1-27058018-GC-G |
c.1726del |
p.Q576Rfs*43 |
Frameshift |
3/20 |
- |
1 |
1-27058020-G-C |
c.1728G>C |
p.Q576H |
Missense |
3/20 |
- |
2 |
1-27058020-G-T |
c.1728G>T |
p.Q576H |
Missense |
3/20 |
- |
5 |
1-27058021-G-A |
c.1729G>A |
p.A577T |
Missense |
3/20 |
- |
3 |
1-27058021-G-T |
c.1729G>T |
p.A577S |
Missense |
3/20 |
- |
1 |
1-27058022-C-T |
c.1730C>T |
p.A577V |
Missense |
3/20 |
- |
5 |
1-27058023-CTG-C |
c.1731_1732del |
p.A578Vfs*44 |
Frameshift |
3/20 |
- |
1 |
1-27058024-G-A |
c.1732G>A |
p.A578T |
Missense |
3/20 |
- |
3 |
1-27058025-C-A |
c.1733C>A |
p.A578E |
Missense |
3/20 |
- |
2 |
1-27058025-C-G |
c.1733C>G |
p.A578G |
Missense |
3/20 |
- |
1 |
1-27058025-C-T |
c.1733C>T |
p.A578V |
Missense |
3/20 |
- |
3 |
1-27058026-G-A |
c.1734G>A |
p.A578= |
Synonymous |
3/20 |
- |
4 |
1-27058026-G-C |
c.1734G>C |
p.A578= |
Synonymous |
3/20 |
- |
4 |
1-27058026-G-T |
c.1734G>T |
p.A578= |
Synonymous |
3/20 |
- |
4 |
1-27058028-A-C |
c.1736A>C |
p.Y579S |
Missense |
3/20 |
- |
1 |
1-27058029-T-A |
c.1737T>A |
p.Y579* |
Nonsense |
3/20 |
- |
3 |
1-27058029-T-G |
c.1737T>G |
p.Y579* |
Nonsense |
3/20 |
- |
1 |
1-27058030-C-A |
c.1738C>A |
p.P580T |
Missense |
3/20 |
- |
1 |
1-27058030-C-T |
c.1738C>T |
p.P580S |
Missense |
3/20 |
- |
2 |
1-27058031-C-T |
c.1739C>T |
p.P580L |
Missense |
3/20 |
- |
3 |
1-27058033-C-G |
c.1741C>G |
p.Q581E |
Missense |
3/20 |
- |
1 |
1-27058033-C-T |
c.1741C>T |
p.Q581* |
Nonsense |
3/20 |
- |
21 |
1-27058033-TC-T |
c.1741del |
p.Q581Sfs*38 |
Frameshift |
3/20 |
- |
2 |
1-27058034-A-T |
c.1742A>T |
p.Q581L |
Missense |
3/20 |
- |
2 |
1-27058037-C-G |
c.1745C>G |
p.P582R |
Missense |
3/20 |
- |
1 |
1-27058037-C-T |
c.1745C>T |
p.P582L |
Missense |
3/20 |
- |
5 |
1-27058035-GC-G |
c.1747del |
p.Q583Sfs*36 |
Frameshift |
3/20 |
- |
2 |
1-27058035-G-GC |
c.1747dup |
p.Q583Pfs*40 |
Frameshift |
3/20 |
- |
1 |
1-27058039-C-A |
c.1747C>A |
p.Q583K |
Missense |
3/20 |
- |
2 |
1-27058039-CCA-C |
c.1747_1748del |
p.Q583Vfs*39 |
Frameshift |
3/20 |
- |
1 |
1-27058039-C-T |
c.1747C>T |
p.Q583* |
Nonsense |
3/20 |
- |
6 |
1-27058040-A-G |
c.1748A>G |
p.Q583R |
Missense |
3/20 |
- |
1 |
1-27058042-T-C |
c.1750T>C |
p.S584P |
Missense |
3/20 |
- |
5 |
1-27058043-C-A |
c.1751C>A |
p.S584Y |
Missense |
3/20 |
- |
1 |
1-27058043-C-T |
c.1751C>T |
p.S584F |
Missense |
3/20 |
- |
1 |
1-27058043-CT-AA |
c.1751_1752delinsAA |
p.S584* |
Nonsense |
3/20 |
- |
1 |
1-27058044-T-A |
c.1752T>A |
p.S584= |
Synonymous |
3/20 |
- |
2 |
1-27058044-T-C |
c.1752T>C |
p.S584= |
Synonymous |
3/20 |
- |
2 |
1-27058044-T-G |
c.1752T>G |
p.S584= |
Synonymous |
3/20 |
- |
2 |
1-27058045-C-G |
c.1753C>G |
p.Q585E |
Missense |
3/20 |
- |
1 |
1-27058045-C-T |
c.1753C>T |
p.Q585* |
Nonsense |
3/20 |
- |
17 |
1-27058046-A-G |
c.1754A>G |
p.Q585R |
Missense |
3/20 |
- |
1 |
1-27058044-TCAG-T |
c.1756_1758del |
p.Q586del |
InFrameDeletion |
3/20 |
- |
2 |
1-27058048-C-A |
c.1756C>A |
p.Q586K |
Missense |
3/20 |
- |
2 |
1-27058048-C-G |
c.1756C>G |
p.Q586E |
Missense |
3/20 |
- |
1 |
1-27058048-C-T |
c.1756C>T |
p.Q586* |
Nonsense |
3/20 |
- |
12 |
1-27058049-A-G |
c.1757A>G |
p.Q586R |
Missense |
3/20 |
- |
1 |
1-27058051-T-G |
c.1759T>G |
p.S587A |
Missense |
3/20 |
- |
3 |
1-27058051-T-TC |
c.1762dup |
p.Q588Pfs*35 |
Frameshift |
3/20 |
- |
1 |
1-27058054-C-T |
c.1762C>T |
p.Q588* |
Nonsense |
3/20 |
- |
7 |
1-27058055-A-G |
c.1763A>G |
p.Q588R |
Missense |
3/20 |
- |
1 |
1-27058056-G-A |
c.1764G>A |
p.Q588= |
Synonymous |
3/20 |
- |
2 |
1-27058056-G-C |
c.1764G>C |
p.Q588H |
Missense |
3/20 |
- |
1 |
1-27058056-G-T |
c.1764G>T |
p.Q588H |
Missense |
3/20 |
- |
2 |
1-27058057-C-T |
c.1765C>T |
p.Q589* |
Nonsense |
3/20 |
- |
10 |
1-27058059-A-C |
c.1767A>C |
p.Q589H |
Missense |
3/20 |
- |
2 |
1-27058059-A-G |
c.1767A>G |
p.Q589= |
Synonymous |
3/20 |
- |
1 |
1-27058060-A-T |
c.1768A>T |
p.T590S |
Missense |
3/20 |
- |
1 |
1-27058064-C-T |
c.1772C>T |
p.A591V |
Missense |
3/20 |
- |
1 |
1-27058063-GC-G |
c.1773del |
p.Y592Ifs*27 |
Frameshift |
3/20 |
- |
2 |
1-27058065-C-A |
c.1773C>A |
p.A591= |
Synonymous |
3/20 |
- |
1 |
1-27058065-C-G |
c.1773C>G |
p.A591= |
Synonymous |
3/20 |
- |
1 |
1-27058065-C-T |
c.1773C>T |
p.A591= |
Synonymous |
3/20 |
- |
1 |
1-27058067-A-G |
c.1775A>G |
p.Y592C |
Missense |
3/20 |
- |
2 |
1-27058068-T-A |
c.1776T>A |
p.Y592* |
Nonsense |
3/20 |
- |
3 |
1-27058068-T-G |
c.1776T>G |
p.Y592* |
Nonsense |
3/20 |
- |
5 |
1-27058067-AT-A |
c.1777del |
p.S593Pfs*26 |
Frameshift |
3/20 |
- |
1 |
1-27058069-T-C |
c.1777T>C |
p.S593P |
Missense |
3/20 |
- |
1 |
1-27058069-T-G |
c.1777T>G |
p.S593A |
Missense |
3/20 |
- |
1 |
1-27058070-C-T |
c.1778C>T |
p.S593F |
Missense |
3/20 |
- |
5 |
1-27058071-C-T |
c.1779C>T |
p.S593= |
Synonymous |
3/20 |
- |
1 |
1-27058072-C-T |
c.1780C>T |
p.Q594* |
Nonsense |
3/20 |
- |
7 |
1-27058073-A-G |
c.1781A>G |
p.Q594R |
Missense |
3/20 |
- |
1 |
1-27058075-C-T |
c.1783C>T |
p.Q595* |
Nonsense |
3/20 |
- |
2 |
1-27058076-A-G |
c.1784A>G |
p.Q595R |
Missense |
3/20 |
- |
1 |
1-27058076-CA-C |
c.1784del |
p.Q595Rfs*24 |
Frameshift |
3/20 |
- |
1 |
1-27058078-CGC-TGG |
c.1786_1788delinsTGG |
p.R596W |
Missense |
3/20 |
- |
1 |
1-27058078-C-T |
c.1786C>T |
p.R596C |
Missense |
3/20 |
- |
3 |
1-27058079-G-A |
c.1787G>A |
p.R596H |
Missense |
3/20 |
- |
6 |
1-27058079-G-T |
c.1787G>T |
p.R596L |
Missense |
3/20 |
- |
2 |
1-27058080-C-A |
c.1788C>A |
p.R596= |
Synonymous |
3/20 |
- |
1 |
1-27058080-C-G |
c.1788C>G |
p.R596= |
Synonymous |
3/20 |
- |
1 |
1-27058080-C-T |
c.1788C>T |
p.R596= |
Synonymous |
3/20 |
- |
1 |
1-27058081-CTT-C |
c.1789_1790del |
p.F597Pfs*25 |
Frameshift |
3/20 |
- |
1 |
1-27058081-T-C |
c.1789T>C |
p.F597L |
Missense |
3/20 |
- |
1 |
1-27058083-C-A |
c.1791C>A |
p.F597L |
Missense |
3/20 |
- |
1 |
1-27058083-C-G |
c.1791C>G |
p.F597L |
Missense |
3/20 |
- |
1 |
1-27058080-CT-C |
c.1790del |
p.F597Sfs*22 |
Frameshift |
3/20 |
- |
1 |
1-27058082-T-G |
c.1790T>G |
p.F597C |
Missense |
3/20 |
- |
1 |
1-27058083-C-T |
c.1791C>T |
p.F597= |
Synonymous |
3/20 |
- |
1 |
1-27058082-TC-T |
c.1793del |
p.P598Lfs*21 |
Frameshift |
3/20 |
- |
1 |
1-27058085-C-T |
c.1793C>T |
p.P598L |
Missense |
3/20 |
- |
1 |
1-27058087-C-T |
c.1795C>T |
p.P599S |
Missense |
3/20 |
- |
1 |
1-27058088-C-T |
c.1796C>T |
p.P599L |
Missense |
3/20 |
- |
3 |
1-27058089-A-ACG |
c.1798_1799insGC |
p.P600Rfs*20 |
Frameshift |
3/20 |
- |
1 |
1-27058090-C-A |
c.1798C>A |
p.P600T |
Missense |
3/20 |
- |
1 |
1-27058090-C-T |
c.1798C>T |
p.P600S |
Missense |
3/20 |
- |
1 |
1-27058091-C-T |
c.1799C>T |
p.P600L |
Missense |
3/20 |
- |
2 |
1-27058092-G-A |
c.1800G>A |
p.P600= |
Synonymous |
3/20 |
- |
7 |
1-27058092-G-C |
c.1800G>C |
p.P600= |
Synonymous |
3/20 |
- |
4 |
1-27058092-G-T |
c.1800G>T |
p.P600= |
Synonymous |
3/20 |
- |
4 |
1-27058093-C-A |
c.1801C>A |
p.Q601K |
Missense |
3/20 |
- |
1 |
1-27058093-C-T |
c.1801C>T |
p.Q601* |
Nonsense |
3/20 |
- |
1 |
1-27058096-G-C |
c.1803+1G>C |
- |
IntronicSNV |
- |
3/19 |
1 |
1-27058097-T-G |
c.1803+2T>G |
- |
IntronicSNV |
- |
3/19 |
1 |
1-27058170-T-C |
c.1803+75T>C |
- |
IntronicSNV |
- |
3/19 |
1 |
1-27059167-G-A |
c.1804G>A |
p.E602K |
Missense |
4/20 |
- |
6 |
1-27059167-G-T |
c.1804G>T |
p.E602* |
Nonsense |
4/20 |
- |
5 |
1-27059168-A-G |
c.1805A>G |
p.E602G |
Missense |
4/20 |
- |
3 |
1-27059169-G-T |
c.1806G>T |
p.E602D |
Missense |
4/20 |
- |
1 |
1-27059169-G-GC |
c.1807dup |
p.L603Pfs*20 |
Frameshift |
4/20 |
- |
3 |
1-27059176-C-G |
c.1813C>G |
p.Q605E |
Missense |
4/20 |
- |
5 |
1-27059176-C-T |
c.1813C>T |
p.Q605* |
Nonsense |
4/20 |
- |
16 |
1-27059177-A-C |
c.1814A>C |
p.Q605P |
Missense |
4/20 |
- |
1 |
1-27059176-C-CA |
c.1815dup |
p.D606Rfs*17 |
Frameshift |
4/20 |
- |
1 |
1-27059179-G-A |
c.1816G>A |
p.D606N |
Missense |
4/20 |
- |
1 |
1-27059180-A-C |
c.1817A>C |
p.D606A |
Missense |
4/20 |
- |
1 |
1-27059180-A-AT |
c.1819dup |
p.S607Ffs*16 |
Frameshift |
4/20 |
- |
1 |
1-27059183-C-A |
c.1820C>A |
p.S607* |
Nonsense |
4/20 |
- |
6 |
1-27059183-CA-TT |
c.1820_1821delinsTT |
p.S607F |
Missense |
4/20 |
- |
1 |
1-27059183-C-G |
c.1820C>G |
p.S607* |
Nonsense |
4/20 |
- |
7 |
1-27059183-C-T |
c.1820C>T |
p.S607L |
Missense |
4/20 |
- |
2 |
1-27059185-T-C |
c.1822T>C |
p.F608L |
Missense |
4/20 |
- |
1 |
1-27059187-T-A |
c.1824T>A |
p.F608L |
Missense |
4/20 |
- |
1 |
1-27059187-T-G |
c.1824T>G |
p.F608L |
Missense |
4/20 |
- |
1 |
1-27059186-T-C |
c.1823T>C |
p.F608S |
Missense |
4/20 |
- |
1 |
1-27059188-TGGGTCTC-T |
c.1825_1831del |
p.G609Rfs*8 |
Frameshift |
4/20 |
- |
1 |
1-27059189-G-A |
c.1826G>A |
p.G609E |
Missense |
4/20 |
- |
1 |
1-27059190-G-A |
c.1827G>A |
p.G609= |
Synonymous |
4/20 |
- |
1 |
1-27059191-T-G |
c.1828T>G |
p.S610A |
Missense |
4/20 |
- |
1 |
1-27059192-C-A |
c.1829C>A |
p.S610Y |
Missense |
4/20 |
- |
1 |
1-27059192-CT-AA |
c.1829_1830delinsAA |
p.S610* |
Nonsense |
4/20 |
- |
1 |
1-27059194-C-T |
c.1831C>T |
p.Q611* |
Nonsense |
4/20 |
- |
20 |
1-27059195-A-C |
c.1832A>C |
p.Q611P |
Missense |
4/20 |
- |
1 |
1-27059196-G-A |
c.1833G>A |
p.Q611= |
Synonymous |
4/20 |
- |
1 |
1-27059196-G-C |
c.1833G>C |
p.Q611H |
Missense |
4/20 |
- |
1 |
1-27059196-G-T |
c.1833G>T |
p.Q611H |
Missense |
4/20 |
- |
1 |
1-27059197-G-A |
c.1834G>A |
p.A612T |
Missense |
4/20 |
- |
3 |
1-27059197-G-C |
c.1834G>C |
p.A612P |
Missense |
4/20 |
- |
1 |
1-27059197-G-T |
c.1834G>T |
p.A612S |
Missense |
4/20 |
- |
2 |
1-27059201-C-A |
c.1838C>A |
p.S613Y |
Missense |
4/20 |
- |
1 |
1-27059201-C-T |
c.1838C>T |
p.S613F |
Missense |
4/20 |
- |
1 |
1-27059202-C-A |
c.1839C>A |
p.S613= |
Synonymous |
4/20 |
- |
1 |
1-27059202-C-G |
c.1839C>G |
p.S613= |
Synonymous |
4/20 |
- |
1 |
1-27059202-C-T |
c.1839C>T |
p.S613= |
Synonymous |
4/20 |
- |
2 |
1-27059203-T-G |
c.1840T>G |
p.S614A |
Missense |
4/20 |
- |
3 |
1-27059204-C-A |
c.1841C>A |
p.S614* |
Nonsense |
4/20 |
- |
8 |
1-27059204-C-G |
c.1841C>G |
p.S614* |
Nonsense |
4/20 |
- |
13 |
1-27059204-C-T |
c.1841C>T |
p.S614L |
Missense |
4/20 |
- |
11 |
1-27059206-G-A |
c.1843G>A |
p.A615T |
Missense |
4/20 |
- |
1 |
1-27059207-C-A |
c.1844C>A |
p.A615D |
Missense |
4/20 |
- |
2 |
1-27059207-C-T |
c.1844C>T |
p.A615V |
Missense |
4/20 |
- |
4 |
1-27059208-C-A |
c.1845C>A |
p.A615= |
Synonymous |
4/20 |
- |
1 |
1-27059208-C-G |
c.1845C>G |
p.A615= |
Synonymous |
4/20 |
- |
1 |
1-27059208-C-T |
c.1845C>T |
p.A615= |
Synonymous |
4/20 |
- |
1 |
1-27059209-C-A |
c.1846C>A |
p.P616T |
Missense |
4/20 |
- |
1 |
1-27059209-C-G |
c.1846C>G |
p.P616A |
Missense |
4/20 |
- |
1 |
1-27059209-C-T |
c.1846C>T |
p.P616S |
Missense |
4/20 |
- |
7 |
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 |
- |
4 |
1-27059206-G-GC |
c.1848dup |
p.S617Lfs*6 |
Frameshift |
4/20 |
- |
1 |
1-27059209-CCCT-C |
c.1848_1850del |
p.S617del |
InFrameDeletion |
4/20 |
- |
1 |
1-27059212-CT-C |
c.1849del |
p.S617Qfs*2 |
Frameshift |
4/20 |
- |
5 |
1-27059213-C-A |
c.1850C>A |
p.S617* |
Nonsense |
4/20 |
- |
8 |
1-27059213-CA-AT |
c.1850_1851delinsAT |
p.S617Y |
Missense |
4/20 |
- |
1 |
1-27059213-CA-GT |
c.1850_1851delinsGT |
p.S617C |
Missense |
4/20 |
- |
1 |
1-27059213-C-G |
c.1850C>G |
p.S617* |
Nonsense |
4/20 |
- |
13 |
1-27059213-C-T |
c.1850C>T |
p.S617L |
Missense |
4/20 |
- |
4 |
1-27059215-A-C |
c.1852A>C |
p.M618L |
Missense |
4/20 |
- |
3 |
1-27059215-A-G |
c.1852A>G |
p.M618V |
Missense |
4/20 |
- |
2 |
1-27059215-A-T |
c.1852A>T |
p.M618L |
Missense |
4/20 |
- |
1 |
1-27059217-G-A |
c.1854G>A |
p.M618I |
Missense |
4/20 |
- |
1 |
1-27059217-G-C |
c.1854G>C |
p.M618I |
Missense |
4/20 |
- |
1 |
1-27059217-G-T |
c.1854G>T |
p.M618I |
Missense |
4/20 |
- |
1 |
1-27059217-TG-T |
c.1854del |
p.M618Ifs*11 |
Frameshift |
4/20 |
- |
1 |
1-27059218-A-AG |
c.1855_1856insG |
p.T619Sfs*4 |
Frameshift |
4/20 |
- |
1 |
1-27059218-A-C |
c.1855A>C |
p.T619P |
Missense |
4/20 |
- |
1 |
1-27059219-C-T |
c.1856C>T |
p.T619I |
Missense |
4/20 |
- |
1 |
1-27059218-ACCT-A |
c.1858_1860del |
p.S621del |
InFrameDeletion |
4/20 |
- |
1 |
1-27059221-TC-AT |
c.1858_1859delinsAT |
p.S620I |
Missense |
4/20 |
- |
1 |
1-27059222-C-A |
c.1859C>A |
p.S620Y |
Missense |
4/20 |
- |
3 |
1-27059222-C-T |
c.1859C>T |
p.S620F |
Missense |
4/20 |
- |
1 |
1-27059224-CA-C |
c.1861del |
p.S621Vfs*8 |
Frameshift |
4/20 |
- |
1 |
1-27059224-A-AG |
c.1862dup |
p.S621Rfs*2 |
Frameshift |
4/20 |
- |
1 |
1-27059225-G-A |
c.1862G>A |
p.S621N |
Missense |
4/20 |
- |
1 |
1-27059225-G-GT |
c.1863dup |
p.K622* |
Nonsense |
4/20 |
- |
1 |
1-27059227-A-T |
c.1864A>T |
p.K622* |
Nonsense |
4/20 |
- |
1 |
1-27059229-G-C |
c.1866G>C |
p.K622N |
Missense |
4/20 |
- |
1 |
1-27059230-G-A |
c.1867G>A |
p.G623R |
Missense |
4/20 |
- |
2 |
1-27059230-G-C |
c.1867G>C |
p.G623R |
Missense |
4/20 |
- |
1 |
1-27059230-G-T |
c.1867G>T |
p.G623* |
Nonsense |
4/20 |
- |
6 |
1-27059231-GA-AC |
c.1868_1869delinsAC |
p.G623D |
Missense |
4/20 |
- |
1 |
1-27059232-A-C |
c.1869A>C |
p.G623= |
Synonymous |
4/20 |
- |
2 |
1-27059232-A-G |
c.1869A>G |
p.G623= |
Synonymous |
4/20 |
- |
2 |
1-27059232-A-T |
c.1869A>T |
p.G623= |
Synonymous |
4/20 |
- |
3 |
1-27059233-G-A |
c.1870G>A |
p.G624R |
Missense |
4/20 |
- |
1 |
1-27059233-G-C |
c.1870G>C |
p.G624R |
Missense |
4/20 |
- |
1 |
1-27059234-G-A |
c.1871G>A |
p.G624E |
Missense |
4/20 |
- |
3 |
1-27059236-C-T |
c.1873C>T |
p.Q625* |
Nonsense |
4/20 |
- |
3 |
1-27059236-GC-G |
c.1873del |
p.Q625Kfs*4 |
Frameshift |
4/20 |
- |
3 |
1-27059236-CAAGAAGAT-C |
c.1875_1882del |
p.Q625Hfs*14 |
Frameshift |
4/20 |
- |
3 |
1-27059236-CA-C |
c.1875del |
p.E626Kfs*3 |
Frameshift |
4/20 |
- |
1 |
1-27059238-A-AT |
c.1875_1876insT |
p.E626* |
Nonsense |
4/20 |
- |
1 |
1-27059239-AG-A |
c.1876del |
p.E626Kfs*3 |
Frameshift |
4/20 |
- |
1 |
1-27059239-G-T |
c.1876G>T |
p.E626* |
Nonsense |
4/20 |
- |
4 |
1-27059240-A-G |
c.1877A>G |
p.E626G |
Missense |
4/20 |
- |
1 |
1-27059242-G-T |
c.1879G>T |
p.D627Y |
Missense |
4/20 |
- |
2 |
1-27059243-A-G |
c.1880A>G |
p.D627G |
Missense |
4/20 |
- |
2 |
1-27059243-A-T |
c.1880A>T |
p.D627V |
Missense |
4/20 |
- |
2 |
1-27059244-AT-A |
c.1881del |
p.D627Efs*2 |
Frameshift |
4/20 |
- |
1 |
1-27059244-T-TA |
c.1882dup |
p.M628Nfs*14 |
Frameshift |
4/20 |
- |
1 |
1-27059244-T-TAGGG |
c.1882_1883insGGGA |
p.M628Rfs*15 |
Frameshift |
4/20 |
- |
1 |
1-27059245-A-AAAAAG |
c.1882_1883insAAAAG |
p.M628Kfs*3 |
Frameshift |
4/20 |
- |
1 |
1-27059246-T-C |
c.1883T>C |
p.M628T |
Missense |
4/20 |
- |
3 |
1-27059246-T-G |
c.1883T>G |
p.M628R |
Missense |
4/20 |
- |
2 |
1-27059247-G-GT |
c.1884_1885insT |
p.N629* |
Nonsense |
4/20 |
- |
1 |
1-27059248-A-G |
c.1885A>G |
p.N629D |
Missense |
4/20 |
- |
1 |
1-27059250-C-A |
c.1887C>A |
p.N629K |
Missense |
4/20 |
- |
4 |
1-27059250-C-G |
c.1887C>G |
p.N629K |
Missense |
4/20 |
- |
1 |
1-27059251-C-A |
c.1888C>A |
p.L630M |
Missense |
4/20 |
- |
2 |
1-27059252-T-A |
c.1889T>A |
p.L630Q |
Missense |
4/20 |
- |
1 |
1-27059252-T-C |
c.1889T>C |
p.L630P |
Missense |
4/20 |
- |
4 |
1-27059252-T-G |
c.1889T>G |
p.L630R |
Missense |
4/20 |
- |
1 |
1-27059253-G-C |
c.1890G>C |
p.L630= |
Synonymous |
4/20 |
- |
1 |
1-27059254-AG-TA |
c.1891_1892delinsTA |
p.S631Y |
Missense |
4/20 |
- |
1 |
1-27059254-A-T |
c.1891A>T |
p.S631C |
Missense |
4/20 |
- |
1 |
1-27059255-G-C |
c.1892G>C |
p.S631T |
Missense |
4/20 |
- |
2 |
1-27059253-GAGCCTTC-G |
c.1893_1899del |
p.L632Qfs*13 |
Frameshift |
4/20 |
- |
2 |
1-27059257-C-T |
c.1894C>T |
p.L632F |
Missense |
4/20 |
- |
1 |
1-27059258-T-A |
c.1895T>A |
p.L632H |
Missense |
4/20 |
- |
1 |
1-27059258-T-G |
c.1895T>G |
p.L632R |
Missense |
4/20 |
- |
1 |
1-27059260-C-A |
c.1897C>A |
p.Q633K |
Missense |
4/20 |
- |
1 |
1-27059260-C-T |
c.1897C>T |
p.Q633* |
Nonsense |
4/20 |
- |
20 |
1-27059262-AGT-A |
c.1899_1900del |
p.Q633Hfs*8 |
Frameshift |
4/20 |
- |
1 |
1-27059263-T-A |
c.1900T>A |
p.S634T |
Missense |
4/20 |
- |
1 |
1-27059263-T-C |
c.1900T>C |
p.S634P |
Missense |
4/20 |
- |
1 |
1-27059264-C-A |
c.1901C>A |
p.S634* |
Nonsense |
4/20 |
- |
10 |
1-27059264-C-G |
c.1901C>G |
p.S634* |
Nonsense |
4/20 |
- |
12 |
1-27059264-C-T |
c.1901C>T |
p.S634L |
Missense |
4/20 |
- |
2 |
1-27059266-A-G |
c.1903A>G |
p.R635G |
Missense |
4/20 |
- |
2 |
1-27059266-AGA-CAT |
c.1903_1905delinsCAT |
p.R635H |
Missense |
4/20 |
- |
1 |
1-27059266-A-T |
c.1903A>T |
p.R635* |
Nonsense |
4/20 |
- |
2 |
1-27059265-AAG-A |
c.1904_1905del |
p.R635Tfs*6 |
Frameshift |
4/20 |
- |
1 |
1-27059267-G-A |
c.1904G>A |
p.R635K |
Missense |
4/20 |
- |
1 |
1-27059267-G-C |
c.1904G>C |
p.R635T |
Missense |
4/20 |
- |
1 |
1-27059267-G-T |
c.1904G>T |
p.R635I |
Missense |
4/20 |
- |
3 |
1-27059269-C-A |
c.1906C>A |
p.P636T |
Missense |
4/20 |
- |
1 |
1-27059269-C-T |
c.1906C>T |
p.P636S |
Missense |
4/20 |
- |
2 |
1-27059270-C-G |
c.1907C>G |
p.P636R |
Missense |
4/20 |
- |
1 |
1-27059270-C-T |
c.1907C>T |
p.P636L |
Missense |
4/20 |
- |
2 |
1-27059273-C-G |
c.1910C>G |
p.S637C |
Missense |
4/20 |
- |
5 |
1-27059273-C-T |
c.1910C>T |
p.S637F |
Missense |
4/20 |
- |
1 |
1-27059272-TC-T |
c.1911del |
p.S638Afs*9 |
Frameshift |
4/20 |
- |
1 |
1-27059275-A-T |
c.1912A>T |
p.S638C |
Missense |
4/20 |
- |
1 |
1-27059276-G-T |
c.1913G>T |
p.S638I |
Missense |
4/20 |
- |
2 |
1-27059280-G-A |
c.1917G>A |
p.L639= |
Synonymous |
4/20 |
- |
1 |
1-27059281-C-G |
c.1918C>G |
p.P640A |
Missense |
4/20 |
- |
1 |
1-27059280-GC-G |
c.1919del |
p.P640Lfs*7 |
Frameshift |
4/20 |
- |
1 |
1-27059282-C-T |
c.1919C>T |
p.P640L |
Missense |
4/20 |
- |
2 |
1-27059283-T-A |
c.1920T>A |
p.P640= |
Synonymous |
4/20 |
- |
1 |
1-27059283-T-C |
c.1920T>C |
p.P640= |
Synonymous |
4/20 |
- |
1 |
1-27059283-T-G |
c.1920T>G |
p.P640= |
Synonymous |
4/20 |
- |
1 |
1-27059284-G-A |
c.1920+1G>A |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27059284-G-C |
c.1920+1G>C |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27059284-G-T |
c.1920+1G>T |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27059283-TGTGA-T |
c.1920+3_1920+6del |
- |
IntronicDeletion |
- |
4/19 |
3 |
1-27059334-A-G |
c.1920+51A>G |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27061942-C-A |
c.1920+2659C>A |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27066466-C-A |
c.1920+7183C>A |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27067417-G-A |
c.1920+8134G>A |
- |
IntronicSNV |
- |
4/19 |
2 |
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 |
3 |
1-27079931-T-C |
c.1921-7416T>C |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27085562-T-C |
c.1921-1785T>C |
- |
IntronicSNV |
- |
4/19 |
1 |
1-27087347-G-A |
c.1921G>A |
p.D641N |
Missense |
5/20 |
- |
3 |
1-27087347-G-GT |
c.1921_1922insT |
p.D641Vfs*8 |
SpliceAcceptorInsertion |
5/20 |
- |
1 |
1-27087348-A-G |
c.1922A>G |
p.D641G |
Missense |
5/20 |
- |
1 |
1-27087350-C-G |
c.1924C>G |
p.L642V |
Missense |
5/20 |
- |
1 |
1-27087353-TC-CT |
c.1927_1928delinsCT |
p.S643L |
Missense |
5/20 |
- |
2 |
1-27087354-C-G |
c.1928C>G |
p.S643C |
Missense |
5/20 |
- |
1 |
1-27087356-G-A |
c.1930G>A |
p.G644S |
Missense |
5/20 |
- |
2 |
1-27087356-G-C |
c.1930G>C |
p.G644R |
Missense |
5/20 |
- |
1 |
1-27087355-TG-T |
c.1931del |
p.G644Vfs*3 |
Frameshift |
5/20 |
- |
1 |
1-27087357-G-A |
c.1931G>A |
p.G644D |
Missense |
5/20 |
- |
1 |
1-27087360-C-A |
c.1934C>A |
p.S645* |
Nonsense |
5/20 |
- |
3 |
1-27087360-C-G |
c.1934C>G |
p.S645* |
Nonsense |
5/20 |
- |
6 |
1-27087360-C-T |
c.1934C>T |
p.S645L |
Missense |
5/20 |
- |
2 |
1-27087362-A-C |
c.1936A>C |
p.I646L |
Missense |
5/20 |
- |
2 |
1-27087362-A-G |
c.1936A>G |
p.I646V |
Missense |
5/20 |
- |
2 |
1-27087363-TA-AC |
c.1937_1938delinsAC |
p.I646N |
Missense |
5/20 |
- |
1 |
1-27087364-A-G |
c.1938A>G |
p.I646M |
Missense |
5/20 |
- |
1 |
1-27087365-G-A |
c.1939G>A |
p.D647N |
Missense |
5/20 |
- |
3 |
1-27087366-A-G |
c.1940A>G |
p.D647G |
Missense |
5/20 |
- |
1 |
1-27087364-AGATGACCTCCCCATGGGGACAGAAGGAGCTCT-A |
c.1941_1972del |
p.D647Efs*18 |
Frameshift |
5/20 |
- |
1 |
1-27087368-G-A |
c.1942G>A |
p.D648N |
Missense |
5/20 |
- |
2 |
1-27087368-G-T |
c.1942G>T |
p.D648Y |
Missense |
5/20 |
- |
2 |
1-27087370-C-T |
c.1944C>T |
p.D648= |
Synonymous |
5/20 |
- |
1 |
1-27087370-C-CCA |
c.1945_1946insAC |
p.L649Hfs*10 |
Frameshift |
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 |
- |
4 |
1-27087371-C-CT |
c.1946dup |
p.M651Hfs*25 |
Frameshift |
5/20 |
- |
1 |
1-27087374-C-A |
c.1948C>A |
p.P650T |
Missense |
5/20 |
- |
1 |
1-27087374-C-T |
c.1948C>T |
p.P650S |
Missense |
5/20 |
- |
2 |
1-27087375-C-A |
c.1949C>A |
p.P650H |
Missense |
5/20 |
- |
3 |
1-27087375-C-T |
c.1949C>T |
p.P650L |
Missense |
5/20 |
- |
1 |
1-27087372-TC-T |
c.1950del |
p.M651Wfs*7 |
Frameshift |
5/20 |
- |
1 |
1-27087372-T-TC |
c.1950dup |
p.M651Hfs*25 |
Frameshift |
5/20 |
- |
1 |
1-27087377-A-C |
c.1951A>C |
p.M651L |
Missense |
5/20 |
- |
3 |
1-27087377-A-G |
c.1951A>G |
p.M651V |
Missense |
5/20 |
- |
1 |
1-27087377-A-T |
c.1951A>T |
p.M651L |
Missense |
5/20 |
- |
4 |
1-27087377-CA-C |
c.1951del |
p.M651Wfs*7 |
Frameshift |
5/20 |
- |
1 |
1-27087377-A-AT |
|