9-4985388-C-T |
c.-351C>T |
- |
5_prime_UTR_variant |
1/25 |
- |
3 |
9-4985542-T-C |
c.-197T>C |
- |
5_prime_UTR_variant |
1/25 |
- |
9 |
9-4985879-A-G |
c.-108-61A>G |
- |
intron_variant |
- |
1/24 |
11 |
9-4987797-T-A |
c.-26+1775T>A |
- |
intron_variant |
- |
2/24 |
1 |
9-4987958-C-T |
c.-26+1936C>T |
- |
intron_variant |
- |
2/24 |
2 |
9-4988048-G-C |
c.-26+2026G>C |
- |
intron_variant |
- |
2/24 |
1 |
9-4988341-C-T |
c.-26+2319C>T |
- |
intron_variant |
- |
2/24 |
1 |
9-4988657-T-C |
c.-26+2635T>C |
- |
intron_variant |
- |
2/24 |
1 |
9-4988683-C-G |
c.-26+2661C>G |
- |
intron_variant |
- |
2/24 |
1 |
9-4988683-C-T |
c.-26+2661C>T |
- |
intron_variant |
- |
2/24 |
1 |
9-4988761-C-T |
c.-26+2739C>T |
- |
intron_variant |
- |
2/24 |
13 |
9-4991379-G-A |
c.-26+5357G>A |
- |
intron_variant |
- |
2/24 |
1 |
9-4991840-T-C |
c.-26+5818T>C |
- |
intron_variant |
- |
2/24 |
1 |
9-4991840-T-G |
c.-26+5818T>G |
- |
intron_variant |
- |
2/24 |
1 |
9-4993267-T-C |
c.-26+7245T>C |
- |
intron_variant |
- |
2/24 |
1 |
9-4993267-T-G |
c.-26+7245T>G |
- |
intron_variant |
- |
2/24 |
1 |
9-4995125-G-A |
c.-26+9103G>A |
- |
intron_variant |
- |
2/24 |
1 |
9-4997333-A-G |
c.-26+11311A>G |
- |
intron_variant |
- |
2/24 |
1 |
9-4997333-A-T |
c.-26+11311A>T |
- |
intron_variant |
- |
2/24 |
1 |
9-4998401-C-T |
c.-26+12379C>T |
- |
intron_variant |
- |
2/24 |
4 |
9-4998639-A-C |
c.-26+12617A>C |
- |
intron_variant |
- |
2/24 |
2 |
9-4998639-A-G |
c.-26+12617A>G |
- |
intron_variant |
- |
2/24 |
2 |
9-4998855-G-A |
c.-26+12833G>A |
- |
intron_variant |
- |
2/24 |
1 |
9-4998855-G-C |
c.-26+12833G>C |
- |
intron_variant |
- |
2/24 |
1 |
9-4998855-G-T |
c.-26+12833G>T |
- |
intron_variant |
- |
2/24 |
1 |
9-4999303-A-G |
c.-26+13281A>G |
- |
intron_variant |
- |
2/24 |
7 |
9-5000155-T-G |
c.-26+14133T>G |
- |
intron_variant |
- |
2/24 |
1 |
9-5000811-A-G |
c.-26+14789A>G |
- |
intron_variant |
- |
2/24 |
4 |
9-5001269-C-A |
c.-26+15247C>A |
- |
intron_variant |
- |
2/24 |
1 |
9-5002011-C-T |
c.-26+15989C>T |
- |
intron_variant |
- |
2/24 |
1 |
9-5002332-T-A |
c.-26+16310T>A |
- |
intron_variant |
- |
2/24 |
1 |
9-5002911-C-A |
c.-26+16889C>A |
- |
intron_variant |
- |
2/24 |
1 |
9-5002911-C-G |
c.-26+16889C>G |
- |
intron_variant |
- |
2/24 |
1 |
9-5002911-C-T |
c.-26+16889C>T |
- |
intron_variant |
- |
2/24 |
1 |
9-5003338-G-A |
c.-26+17316G>A |
- |
intron_variant |
- |
2/24 |
3 |
9-5003338-G-C |
c.-26+17316G>C |
- |
intron_variant |
- |
2/24 |
3 |
9-5003973-G-T |
c.-26+17951G>T |
- |
intron_variant |
- |
2/24 |
5 |
9-5005034-A-T |
c.-25-16929A>T |
- |
IntronicSNV |
- |
2/24 |
5 |
9-5005040-T-A |
c.-25-16923T>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5005040-T-C |
c.-25-16923T>C |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5006345-G-C |
c.-25-15618G>C |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5006345-G-T |
c.-25-15618G>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5006743-T-G |
c.-25-15220T>G |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5007138-C-T |
c.-25-14825C>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5008070-C-A |
c.-25-13893C>A |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5008070-C-T |
c.-25-13893C>T |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5009541-G-A |
c.-25-12422G>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5010091-G-A |
c.-25-11872G>A |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5010192-G-A |
c.-25-11771G>A |
- |
IntronicSNV |
- |
2/24 |
8 |
9-5010751-C-A |
c.-25-11212C>A |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5010885-A-C |
c.-25-11078A>C |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5010885-A-T |
c.-25-11078A>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5011795-C-T |
c.-25-10168C>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5012696-A-G |
c.-25-9267A>G |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5013309-G-A |
c.-25-8654G>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5014332-G-A |
c.-25-7631G>A |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5015143-G-A |
c.-25-6820G>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5015143-G-T |
c.-25-6820G>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5015732-C-A |
c.-25-6231C>A |
- |
IntronicSNV |
- |
2/24 |
6 |
9-5015901-T-A |
c.-25-6062T>A |
- |
IntronicSNV |
- |
2/24 |
4 |
9-5015901-T-C |
c.-25-6062T>C |
- |
IntronicSNV |
- |
2/24 |
4 |
9-5015901-T-G |
c.-25-6062T>G |
- |
IntronicSNV |
- |
2/24 |
4 |
9-5016145-C-T |
c.-25-5818C>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5016455-A-T |
c.-25-5508A>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5016818-A-G |
c.-25-5145A>G |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5017350-G-A |
c.-25-4613G>A |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5017384-C-A |
c.-25-4579C>A |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5017384-C-T |
c.-25-4579C>T |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5018041-G-A |
c.-25-3922G>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5019201-T-G |
c.-25-2762T>G |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5020089-G-A |
c.-25-1874G>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5021140-T-A |
c.-25-823T>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5021191-A-T |
c.-25-772A>T |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5021514-A-G |
c.-25-449A>G |
- |
IntronicSNV |
- |
2/24 |
4 |
9-5021738-G-A |
c.-25-225G>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5021738-G-C |
c.-25-225G>C |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5021991-G-A |
c.4G>A |
p.G2R |
Missense |
3/25 |
- |
1 |
9-5021991-GGA-AGC |
c.4_6delinsAGC |
p.G2S |
Missense |
3/25 |
- |
1 |
9-5021993-A-C |
c.6A>C |
p.G2= |
Synonymous |
3/25 |
- |
2 |
9-5021993-A-G |
c.6A>G |
p.G2= |
Synonymous |
3/25 |
- |
2 |
9-5021993-A-T |
c.6A>T |
p.G2= |
Synonymous |
3/25 |
- |
2 |
9-5021996-G-A |
c.9G>A |
p.M3I |
Missense |
3/25 |
- |
1 |
9-5021997-G-A |
c.10G>A |
p.A4T |
Missense |
3/25 |
- |
2 |
9-5021998-C-A |
c.11C>A |
p.A4D |
Missense |
3/25 |
- |
1 |
9-5021999-C-G |
c.12C>G |
p.A4= |
Synonymous |
3/25 |
- |
1 |
9-5022002-C-T |
c.15C>T |
p.C5= |
Synonymous |
3/25 |
- |
7 |
9-5022005-T-A |
c.18T>A |
p.L6= |
Synonymous |
3/25 |
- |
1 |
9-5022005-T-C |
c.18T>C |
p.L6= |
Synonymous |
3/25 |
- |
1 |
9-5022005-T-G |
c.18T>G |
p.L6= |
Synonymous |
3/25 |
- |
1 |
9-5022006-A-C |
c.19A>C |
p.T7P |
Missense |
3/25 |
- |
1 |
9-5022007-C-A |
c.20C>A |
p.T7K |
Missense |
3/25 |
- |
1 |
9-5022007-C-T |
c.20C>T |
p.T7M |
Missense |
3/25 |
- |
2 |
9-5022008-G-A |
c.21G>A |
p.T7= |
Synonymous |
3/25 |
- |
2 |
9-5022012-A-G |
c.25A>G |
p.T9A |
Missense |
3/25 |
- |
1 |
9-5022013-C-T |
c.26C>T |
p.T9I |
Missense |
3/25 |
- |
1 |
9-5022015-G-A |
c.28G>A |
p.E10K |
Missense |
3/25 |
- |
5 |
9-5022016-A-C |
c.29A>C |
p.E10A |
Missense |
3/25 |
- |
1 |
9-5022017-A-C |
c.30A>C |
p.E10D |
Missense |
3/25 |
- |
1 |
9-5022018-A-G |
c.31A>G |
p.M11V |
Missense |
3/25 |
- |
1 |
9-5022020-G-T |
c.33G>T |
p.M11I |
Missense |
3/25 |
- |
1 |
9-5022021-G-A |
c.34G>A |
p.E12K |
Missense |
3/25 |
- |
4 |
9-5022021-G-C |
c.34G>C |
p.E12Q |
Missense |
3/25 |
- |
2 |
9-5022021-G-T |
c.34G>T |
p.E12* |
Nonsense |
3/25 |
- |
3 |
9-5022022-A-C |
c.35A>C |
p.E12A |
Missense |
3/25 |
- |
2 |
9-5022023-G-T |
c.36G>T |
p.E12D |
Missense |
3/25 |
- |
2 |
9-5022024-G-A |
c.37G>A |
p.G13R |
Missense |
3/25 |
- |
1 |
9-5022024-G-C |
c.37G>C |
p.G13R |
Missense |
3/25 |
- |
1 |
9-5022024-GGA-AAC |
c.37_39delinsAAC |
p.G13N |
Missense |
3/25 |
- |
1 |
9-5022024-GGA-AGC |
c.37_39delinsAGC |
p.G13S |
Missense |
3/25 |
- |
1 |
9-5022024-GGA-TGT |
c.37_39delinsTGT |
p.G13C |
Missense |
3/25 |
- |
2 |
9-5022024-G-T |
c.37G>T |
p.G13* |
Nonsense |
3/25 |
- |
1 |
9-5022025-G-A |
c.38G>A |
p.G13E |
Missense |
3/25 |
- |
4 |
9-5022025-GA-AC |
c.38_39delinsAC |
p.G13D |
Missense |
3/25 |
- |
14 |
9-5022025-G-T |
c.38G>T |
p.G13V |
Missense |
3/25 |
- |
1 |
9-5022028-C-T |
c.41C>T |
p.T14I |
Missense |
3/25 |
- |
2 |
9-5022029-A-C |
c.42A>C |
p.T14= |
Synonymous |
3/25 |
- |
1 |
9-5022029-A-G |
c.42A>G |
p.T14= |
Synonymous |
3/25 |
- |
1 |
9-5022029-A-T |
c.42A>T |
p.T14= |
Synonymous |
3/25 |
- |
1 |
9-5022030-T-C |
c.43T>C |
p.S15P |
Missense |
3/25 |
- |
1 |
9-5022030-TC-AA |
c.43_44delinsAA |
p.S15N |
Missense |
3/25 |
- |
1 |
9-5022030-TCC-GAG |
c.43_45delinsGAG |
p.S15E |
Missense |
3/25 |
- |
1 |
9-5022030-TC-GA |
c.43_44inv |
p.S15D |
Missense |
3/25 |
- |
1 |
9-5022030-T-G |
c.43T>G |
p.S15A |
Missense |
3/25 |
- |
4 |
9-5022031-C-G |
c.44C>G |
p.S15C |
Missense |
3/25 |
- |
2 |
9-5022031-C-T |
c.44C>T |
p.S15F |
Missense |
3/25 |
- |
7 |
9-5022034-C-A |
c.47C>A |
p.T16N |
Missense |
3/25 |
- |
2 |
9-5022034-C-T |
c.47C>T |
p.T16I |
Missense |
3/25 |
- |
1 |
9-5022035-C-A |
c.48C>A |
p.T16= |
Synonymous |
3/25 |
- |
1 |
9-5022035-C-G |
c.48C>G |
p.T16= |
Synonymous |
3/25 |
- |
1 |
9-5022035-C-T |
c.48C>T |
p.T16= |
Synonymous |
3/25 |
- |
1 |
9-5022036-T-C |
c.49T>C |
p.S17P |
Missense |
3/25 |
- |
1 |
9-5022036-TC-AA |
c.49_50delinsAA |
p.S17N |
Missense |
3/25 |
- |
2 |
9-5022036-TC-GA |
c.49_50inv |
p.S17D |
Missense |
3/25 |
- |
2 |
9-5022036-TCT-AAG |
c.49_51delinsAAG |
p.S17K |
Missense |
3/25 |
- |
1 |
9-5022036-T-G |
c.49T>G |
p.S17A |
Missense |
3/25 |
- |
7 |
9-5022037-C-G |
c.50C>G |
p.S17C |
Missense |
3/25 |
- |
5 |
9-5022037-C-T |
c.50C>T |
p.S17F |
Missense |
3/25 |
- |
2 |
9-5022038-T-A |
c.51T>A |
p.S17= |
Synonymous |
3/25 |
- |
1 |
9-5022038-T-C |
c.51T>C |
p.S17= |
Synonymous |
3/25 |
- |
1 |
9-5022038-T-G |
c.51T>G |
p.S17= |
Synonymous |
3/25 |
- |
1 |
9-5022039-TC-AT |
c.52_53delinsAT |
p.S18I |
Missense |
3/25 |
- |
1 |
9-5022039-TC-CT |
c.52_53delinsCT |
p.S18L |
Missense |
3/25 |
- |
1 |
9-5022039-TC-GA |
c.52_53inv |
p.S18D |
Missense |
3/25 |
- |
1 |
9-5022039-T-G |
c.52T>G |
p.S18A |
Missense |
3/25 |
- |
5 |
9-5022040-C-G |
c.53C>G |
p.S18C |
Missense |
3/25 |
- |
2 |
9-5022040-C-T |
c.53C>T |
p.S18F |
Missense |
3/25 |
- |
3 |
9-5022041-T-C |
c.54T>C |
p.S18= |
Synonymous |
3/25 |
- |
1 |
9-5022042-A-C |
c.55A>C |
p.I19L |
Missense |
3/25 |
- |
1 |
9-5022042-A-G |
c.55A>G |
p.I19V |
Missense |
3/25 |
- |
1 |
9-5022042-A-T |
c.55A>T |
p.I19L |
Missense |
3/25 |
- |
1 |
9-5022044-A-G |
c.57A>G |
p.I19M |
Missense |
3/25 |
- |
1 |
9-5022048-CAG-GAC |
c.61_63delinsGAC |
p.Q21D |
Missense |
3/25 |
- |
1 |
9-5022048-C-G |
c.61C>G |
p.Q21E |
Missense |
3/25 |
- |
3 |
9-5022050-G-A |
c.63G>A |
p.Q21= |
Synonymous |
3/25 |
- |
1 |
9-5022050-G-C |
c.63G>C |
p.Q21H |
Missense |
3/25 |
- |
3 |
9-5022050-G-T |
c.63G>T |
p.Q21H |
Missense |
3/25 |
- |
2 |
9-5022052-A-C |
c.65A>C |
p.N22T |
Missense |
3/25 |
- |
1 |
9-5022052-A-G |
c.65A>G |
p.N22S |
Missense |
3/25 |
- |
1 |
9-5022054-G-A |
c.67G>A |
p.G23S |
Missense |
3/25 |
- |
1 |
9-5022055-G-T |
c.68G>T |
p.G23V |
Missense |
3/25 |
- |
3 |
9-5022055-GT-AG |
c.68_69delinsAG |
p.G23E |
Missense |
3/25 |
- |
1 |
9-5022056-T-A |
c.69T>A |
p.G23= |
Synonymous |
3/25 |
- |
1 |
9-5022057-GAT-ATG |
c.70_72delinsATG |
p.D24M |
Missense |
3/25 |
- |
1 |
9-5022057-GAT-TAA |
c.70_72delinsTAA |
p.D24* |
Nonsense |
3/25 |
- |
1 |
9-5022057-G-C |
c.70G>C |
p.D24H |
Missense |
3/25 |
- |
1 |
9-5022058-A-G |
c.71A>G |
p.D24G |
Missense |
3/25 |
- |
1 |
9-5022059-T-C |
c.72T>C |
p.D24= |
Synonymous |
3/25 |
- |
1 |
9-5022060-A-C |
c.73A>C |
p.I25L |
Missense |
3/25 |
- |
1 |
9-5022061-T-C |
c.74T>C |
p.I25T |
Missense |
3/25 |
- |
1 |
9-5022061-T-G |
c.74T>G |
p.I25S |
Missense |
3/25 |
- |
1 |
9-5022062-T-C |
c.75T>C |
p.I25= |
Synonymous |
3/25 |
- |
1 |
9-5022063-T-A |
c.76T>A |
p.S26T |
Missense |
3/25 |
- |
1 |
9-5022063-TC-CT |
c.76_77delinsCT |
p.S26L |
Missense |
3/25 |
- |
1 |
9-5022064-C-G |
c.77C>G |
p.S26C |
Missense |
3/25 |
- |
2 |
9-5022064-C-T |
c.77C>T |
p.S26F |
Missense |
3/25 |
- |
2 |
9-5022066-G-T |
c.79G>T |
p.G27* |
Nonsense |
3/25 |
- |
1 |
9-5022067-G-A |
c.80G>A |
p.G27E |
Missense |
3/25 |
- |
1 |
9-5022069-A-C |
c.82A>C |
p.N28H |
Missense |
3/25 |
- |
1 |
9-5022071-T-C |
c.84T>C |
p.N28= |
Synonymous |
3/25 |
- |
1 |
9-5022072-G-A |
c.85G>A |
p.A29T |
Missense |
3/25 |
- |
1 |
9-5022072-G-C |
c.85G>C |
p.A29P |
Missense |
3/25 |
- |
2 |
9-5022072-GC-AA |
c.85_86delinsAA |
p.A29N |
Missense |
3/25 |
- |
2 |
9-5022072-GC-AT |
c.85_86delinsAT |
p.A29I |
Missense |
3/25 |
- |
2 |
9-5022072-GC-CA |
c.85_86delinsCA |
p.A29H |
Missense |
3/25 |
- |
2 |
9-5022072-GCC-ATG |
c.85_87delinsATG |
p.A29M |
Missense |
3/25 |
- |
3 |
9-5022072-GCC-CAA |
c.85_87delinsCAA |
p.A29Q |
Missense |
3/25 |
- |
2 |
9-5022072-GC-CG |
c.85_86delinsCG |
p.A29R |
Missense |
3/25 |
- |
2 |
9-5022072-GC-CT |
c.85_86delinsCT |
p.A29L |
Missense |
3/25 |
- |
3 |
9-5022072-GCC-TAA |
c.85_87delinsTAA |
p.A29* |
Nonsense |
3/25 |
- |
2 |
9-5022072-GCC-TGG |
c.85_87delinsTGG |
p.A29W |
Missense |
3/25 |
- |
2 |
9-5022072-GC-TG |
c.85_86delinsTG |
p.A29C |
Missense |
3/25 |
- |
2 |
9-5022072-G-T |
c.85G>T |
p.A29S |
Missense |
3/25 |
- |
2 |
9-5022073-C-A |
c.86C>A |
p.A29D |
Missense |
3/25 |
- |
3 |
9-5022073-CC-AG |
c.86_87delinsAG |
p.A29E |
Missense |
3/25 |
- |
5 |
9-5022073-C-G |
c.86C>G |
p.A29G |
Missense |
3/25 |
- |
4 |
9-5022073-C-T |
c.86C>T |
p.A29V |
Missense |
3/25 |
- |
4 |
9-5022074-C-A |
c.87C>A |
p.A29= |
Synonymous |
3/25 |
- |
2 |
9-5022074-C-G |
c.87C>G |
p.A29= |
Synonymous |
3/25 |
- |
2 |
9-5022074-C-T |
c.87C>T |
p.A29= |
Synonymous |
3/25 |
- |
2 |
9-5022076-A-G |
c.89A>G |
p.N30S |
Missense |
3/25 |
- |
1 |
9-5022077-T-C |
c.90T>C |
p.N30= |
Synonymous |
3/25 |
- |
1 |
9-5022079-C-G |
c.92C>G |
p.S31C |
Missense |
3/25 |
- |
1 |
9-5022079-C-T |
c.92C>T |
p.S31F |
Missense |
3/25 |
- |
1 |
9-5022080-T-C |
c.93T>C |
p.S31= |
Synonymous |
3/25 |
- |
2 |
9-5022081-A-G |
c.94A>G |
p.M32V |
Missense |
3/25 |
- |
1 |
9-5022081-A-T |
c.94A>T |
p.M32L |
Missense |
3/25 |
- |
1 |
9-5022083-G-A |
c.96G>A |
p.M32I |
Missense |
3/25 |
- |
1 |
9-5022083-G-C |
c.96G>C |
p.M32I |
Missense |
3/25 |
- |
1 |
9-5022083-G-T |
c.96G>T |
p.M32I |
Missense |
3/25 |
- |
1 |
9-5022084-AA-GC |
c.97_98delinsGC |
p.K33A |
Missense |
3/25 |
- |
1 |
9-5022084-A-AT |
c.97_98insT |
p.K33Ifs*19 |
Frameshift |
3/25 |
- |
1 |
9-5022085-A-C |
c.98A>C |
p.K33T |
Missense |
3/25 |
- |
2 |
9-5022085-A-G |
c.98A>G |
p.K33R |
Missense |
3/25 |
- |
1 |
9-5022086-G-C |
c.99G>C |
p.K33N |
Missense |
3/25 |
- |
1 |
9-5022086-G-T |
c.99G>T |
p.K33N |
Missense |
3/25 |
- |
1 |
9-5022087-C-G |
c.100C>G |
p.Q34E |
Missense |
3/25 |
- |
1 |
9-5022087-C-T |
c.100C>T |
p.Q34* |
Nonsense |
3/25 |
- |
1 |
9-5022088-A-G |
c.101A>G |
p.Q34R |
Missense |
3/25 |
- |
2 |
9-5022090-A-G |
c.103A>G |
p.I35V |
Missense |
3/25 |
- |
1 |
9-5022091-TA-GC |
c.104_105delinsGC |
p.I35S |
Missense |
3/25 |
- |
1 |
9-5022091-T-C |
c.104T>C |
p.I35T |
Missense |
3/25 |
- |
1 |
9-5022091-T-G |
c.104T>G |
p.I35R |
Missense |
3/25 |
- |
1 |
9-5022092-A-C |
c.105A>C |
p.I35= |
Synonymous |
3/25 |
- |
1 |
9-5022092-A-G |
c.105A>G |
p.I35M |
Missense |
3/25 |
- |
1 |
9-5022092-A-T |
c.105A>T |
p.I35= |
Synonymous |
3/25 |
- |
2 |
9-5022093-G-A |
c.106G>A |
p.D36N |
Missense |
3/25 |
- |
3 |
9-5022093-GA-TG |
c.106_107delinsTG |
p.D36C |
Missense |
3/25 |
- |
1 |
9-5022095-T-A |
c.108T>A |
p.D36E |
Missense |
3/25 |
- |
1 |
9-5022095-T-G |
c.108T>G |
p.D36E |
Missense |
3/25 |
- |
1 |
9-5022098-A-C |
c.111A>C |
p.P37= |
Synonymous |
3/25 |
- |
1 |
9-5022099-G-T |
c.112G>T |
p.V38F |
Missense |
3/25 |
- |
1 |
9-5022102-CT-GC |
c.115_116delinsGC |
p.L39A |
Missense |
3/25 |
- |
5 |
9-5022103-T-C |
c.116T>C |
p.L39P |
Missense |
3/25 |
- |
1 |
9-5022105-C-T |
c.118C>T |
p.Q40* |
Nonsense |
3/25 |
- |
2 |
9-5022107-G-C |
c.120G>C |
p.Q40H |
Missense |
3/25 |
- |
1 |
9-5022108-G-A |
c.121G>A |
p.V41M |
Missense |
3/25 |
- |
2 |
9-5022109-T-C |
c.122T>C |
p.V41A |
Missense |
3/25 |
- |
1 |
9-5022111-T-C |
c.124T>C |
p.Y42H |
Missense |
3/25 |
- |
2 |
9-5022113-T-G |
c.126T>G |
p.Y42* |
Nonsense |
3/25 |
- |
1 |
9-5022114-CT-AG |
c.127_128inv |
p.L43S |
Missense |
3/25 |
- |
1 |
9-5022117-T-A |
c.130T>A |
p.Y44N |
Missense |
3/25 |
- |
1 |
9-5022118-A-G |
c.131A>G |
p.Y44C |
Missense |
3/25 |
- |
2 |
9-5022119-C-A |
c.132C>A |
p.Y44* |
Nonsense |
3/25 |
- |
9 |
9-5022119-C-G |
c.132C>G |
p.Y44* |
Nonsense |
3/25 |
- |
7 |
9-5022121-A-G |
c.134A>G |
p.H45R |
Missense |
3/25 |
- |
2 |
9-5022122-T-A |
c.135T>A |
p.H45Q |
Missense |
3/25 |
- |
1 |
9-5022122-T-G |
c.135T>G |
p.H45Q |
Missense |
3/25 |
- |
1 |
9-5022124-C-A |
c.137C>A |
p.S46Y |
Missense |
3/25 |
- |
2 |
9-5022124-C-T |
c.137C>T |
p.S46F |
Missense |
3/25 |
- |
2 |
9-5022125-C-A |
c.138C>A |
p.S46= |
Synonymous |
3/25 |
- |
1 |
9-5022125-C-G |
c.138C>G |
p.S46= |
Synonymous |
3/25 |
- |
1 |
9-5022125-C-T |
c.138C>T |
p.S46= |
Synonymous |
3/25 |
- |
1 |
9-5022126-C-A |
c.139C>A |
p.L47I |
Missense |
3/25 |
- |
1 |
9-5022126-C-G |
c.139C>G |
p.L47V |
Missense |
3/25 |
- |
1 |
9-5022126-C-T |
c.139C>T |
p.L47F |
Missense |
3/25 |
- |
5 |
9-5022126-C-TTTT |
c.139delinsTTTT |
p.L47delinsFF |
MultiAAMissense |
3/25 |
- |
1 |
9-5022127-T-C |
c.140T>C |
p.L47P |
Missense |
3/25 |
- |
1 |
9-5022129-G-A |
c.142G>A |
p.G48R |
Missense |
3/25 |
- |
1 |
9-5022129-G-C |
c.142G>C |
p.G48R |
Missense |
3/25 |
- |
2 |
9-5022130-G-A |
c.143G>A |
p.G48E |
Missense |
3/25 |
- |
8 |
9-5022132-AA-GC |
c.145_146delinsGC |
p.K49A |
Missense |
3/25 |
- |
1 |
9-5022133-A-C |
c.146A>C |
p.K49T |
Missense |
3/25 |
- |
1 |
9-5022133-A-G |
c.146A>G |
p.K49R |
Missense |
3/25 |
- |
1 |
9-5022134-A-C |
c.147A>C |
p.K49N |
Missense |
3/25 |
- |
1 |
9-5022134-A-T |
c.147A>T |
p.K49N |
Missense |
3/25 |
- |
1 |
9-5022135-T-C |
c.148T>C |
p.S50P |
Missense |
3/25 |
- |
1 |
9-5022138-G-A |
c.151G>A |
p.E51K |
Missense |
3/25 |
- |
4 |
9-5022138-G-T |
c.151G>T |
p.E51* |
Nonsense |
3/25 |
- |
1 |
9-5022139-A-T |
c.152A>T |
p.E51V |
Missense |
3/25 |
- |
1 |
9-5022140-G-A |
c.153G>A |
p.E51= |
Synonymous |
3/25 |
- |
1 |
9-5022141-G-A |
c.154G>A |
p.A52T |
Missense |
3/25 |
- |
1 |
9-5022141-GCA-AAC |
c.154_156delinsAAC |
p.A52N |
Missense |
3/25 |
- |
1 |
9-5022141-GC-CA |
c.154_155delinsCA |
p.A52Q |
Missense |
3/25 |
- |
1 |
9-5022142-CA-AC |
c.155_156delinsAC |
p.A52D |
Missense |
3/25 |
- |
1 |
9-5022142-C-T |
c.155C>T |
p.A52V |
Missense |
3/25 |
- |
1 |
9-5022143-A-C |
c.156A>C |
p.A52= |
Synonymous |
3/25 |
- |
1 |
9-5022143-A-G |
c.156A>G |
p.A52= |
Synonymous |
3/25 |
- |
1 |
9-5022143-A-T |
c.156A>T |
p.A52= |
Synonymous |
3/25 |
- |
2 |
9-5022144-G-A |
c.157G>A |
p.D53N |
Missense |
3/25 |
- |
2 |
9-5022144-GAT-ACAAAC |
c.157_159delinsACAAAC |
p.D53delinsTN |
MultiAAMissense |
3/25 |
- |
1 |
9-5022144-G-T |
c.157G>T |
p.D53Y |
Missense |
3/25 |
- |
1 |
9-5022145-A-C |
c.158A>C |
p.D53A |
Missense |
3/25 |
- |
4 |
9-5022146-T-A |
c.159T>A |
p.D53E |
Missense |
3/25 |
- |
1 |
9-5022146-T-G |
c.159T>G |
p.D53E |
Missense |
3/25 |
- |
1 |
9-5022148-A-G |
c.161A>G |
p.Y54C |
Missense |
3/25 |
- |
1 |
9-5022149-T-G |
c.162T>G |
p.Y54* |
Nonsense |
3/25 |
- |
1 |
9-5022150-C-G |
c.163C>G |
p.L55V |
Missense |
3/25 |
- |
1 |
9-5022150-CTG-TTT |
c.163_165delinsTTT |
p.L55F |
Missense |
3/25 |
- |
2 |
9-5022151-T-C |
c.164T>C |
p.L55P |
Missense |
3/25 |
- |
7 |
9-5022151-T-G |
c.164T>G |
p.L55R |
Missense |
3/25 |
- |
2 |
9-5022154-C-T |
c.167C>T |
p.T56I |
Missense |
3/25 |
- |
1 |
9-5022153-AC-A |
c.168del |
p.P58Hfs*30 |
Frameshift |
3/25 |
- |
1 |
9-5022156-T-C |
c.169T>C |
p.F57L |
Missense |
3/25 |
- |
2 |
9-5022158-T-A |
c.171T>A |
p.F57L |
Missense |
3/25 |
- |
1 |
9-5022158-T-G |
c.171T>G |
p.F57L |
Missense |
3/25 |
- |
1 |
9-5022157-T-G |
c.170T>G |
p.F57C |
Missense |
3/25 |
- |
1 |
9-5022157-T-TGCTGCA |
c.170_171insGCTGCA |
p.F57delinsLLH |
MultiAAMissense |
3/25 |
- |
1 |
9-5022159-CCA-TGT |
c.172_174delinsTGT |
p.P58C |
Missense |
3/25 |
- |
2 |
9-5022159-C-G |
c.172C>G |
p.P58A |
Missense |
3/25 |
- |
2 |
9-5022159-C-T |
c.172C>T |
p.P58S |
Missense |
3/25 |
- |
1 |
9-5022160-C-A |
c.173C>A |
p.P58Q |
Missense |
3/25 |
- |
1 |
9-5022160-C-T |
c.173C>T |
p.P58L |
Missense |
3/25 |
- |
4 |
9-5022161-A-C |
c.174A>C |
p.P58= |
Synonymous |
3/25 |
- |
1 |
9-5022161-A-G |
c.174A>G |
p.P58= |
Synonymous |
3/25 |
- |
1 |
9-5022161-A-T |
c.174A>T |
p.P58= |
Synonymous |
3/25 |
- |
1 |
9-5022162-ATCT-A |
c.175_177del |
p.S59del |
InFrameDeletion |
3/25 |
- |
1 |
9-5022162-T-C |
c.175T>C |
p.S59P |
Missense |
3/25 |
- |
1 |
9-5022162-T-G |
c.175T>G |
p.S59A |
Missense |
3/25 |
- |
2 |
9-5022163-C-A |
c.176C>A |
p.S59Y |
Missense |
3/25 |
- |
1 |
9-5022163-C-G |
c.176C>G |
p.S59C |
Missense |
3/25 |
- |
2 |
9-5022163-C-T |
c.176C>T |
p.S59F |
Missense |
3/25 |
- |
1 |
9-5022165-G-A |
c.178G>A |
p.G60R |
Missense |
3/25 |
- |
1 |
9-5022165-G-C |
c.178G>C |
p.G60R |
Missense |
3/25 |
- |
2 |
9-5022165-GGG-TTT |
c.178_180delinsTTT |
p.G60F |
Missense |
3/25 |
- |
1 |
9-5022166-G-A |
c.179G>A |
p.G60E |
Missense |
3/25 |
- |
1 |
9-5022166-G-C |
c.179G>C |
p.G60A |
Missense |
3/25 |
- |
1 |
9-5022166-GG-AC |
c.179_180delinsAC |
p.G60D |
Missense |
3/25 |
- |
1 |
9-5022166-G-T |
c.179G>T |
p.G60V |
Missense |
3/25 |
- |
4 |
9-5022168-G-A |
c.181G>A |
p.E61K |
Missense |
3/25 |
- |
1 |
9-5022168-G-T |
c.181G>T |
p.E61* |
Nonsense |
3/25 |
- |
2 |
9-5022169-A-T |
c.182A>T |
p.E61V |
Missense |
3/25 |
- |
2 |
9-5022171-T-C |
c.184T>C |
p.Y62H |
Missense |
3/25 |
- |
1 |
9-5022172-A-G |
c.185A>G |
p.Y62C |
Missense |
3/25 |
- |
2 |
9-5022173-T-A |
c.186T>A |
p.Y62* |
Nonsense |
3/25 |
- |
1 |
9-5022173-T-G |
c.186T>G |
p.Y62* |
Nonsense |
3/25 |
- |
1 |
9-5022174-G-A |
c.187G>A |
p.V63I |
Missense |
3/25 |
- |
1 |
9-5022174-G-C |
c.187G>C |
p.V63L |
Missense |
3/25 |
- |
1 |
9-5022174-G-T |
c.187G>T |
p.V63F |
Missense |
3/25 |
- |
1 |
9-5022174-TG-T |
c.187del |
p.V63Lfs*25 |
Frameshift |
3/25 |
- |
1 |
9-5022175-T-C |
c.188T>C |
p.V63A |
Missense |
3/25 |
- |
1 |
9-5022177-G-A |
c.190G>A |
p.A64T |
Missense |
3/25 |
- |
2 |
9-5022177-G-ATCA |
c.190delinsATCA |
p.A64delinsIT |
MultiAAMissense |
3/25 |
- |
1 |
9-5022177-GC-TA |
c.190_191delinsTA |
p.A64* |
Nonsense |
3/25 |
- |
1 |
9-5022178-C-A |
c.191C>A |
p.A64E |
Missense |
3/25 |
- |
1 |
9-5022178-CA-AC |
c.191_192delinsAC |
p.A64D |
Missense |
3/25 |
- |
2 |
9-5022178-C-G |
c.191C>G |
p.A64G |
Missense |
3/25 |
- |
1 |
9-5022178-C-T |
c.191C>T |
p.A64V |
Missense |
3/25 |
- |
2 |
9-5022180-G-A |
c.193G>A |
p.E65K |
Missense |
3/25 |
- |
2 |
9-5022180-G-C |
c.193G>C |
p.E65Q |
Missense |
3/25 |
- |
2 |
9-5022182-A-C |
c.195A>C |
p.E65D |
Missense |
3/25 |
- |
1 |
9-5022183-G-A |
c.196G>A |
p.E66K |
Missense |
3/25 |
- |
3 |
9-5022183-G-C |
c.196G>C |
p.E66Q |
Missense |
3/25 |
- |
2 |
9-5022183-G-T |
c.196G>T |
p.E66* |
Nonsense |
3/25 |
- |
2 |
9-5022184-A-C |
c.197A>C |
p.E66A |
Missense |
3/25 |
- |
1 |
9-5022184-A-G |
c.197A>G |
p.E66G |
Missense |
3/25 |
- |
2 |
9-5022185-A-C |
c.198A>C |
p.E66D |
Missense |
3/25 |
- |
2 |
9-5022185-A-T |
c.198A>T |
p.E66D |
Missense |
3/25 |
- |
2 |
9-5022186-A-G |
c.199A>G |
p.I67V |
Missense |
3/25 |
- |
1 |
9-5022186-A-T |
c.199A>T |
p.I67F |
Missense |
3/25 |
- |
1 |
9-5022187-T-A |
c.200T>A |
p.I67N |
Missense |
3/25 |
- |
1 |
9-5022187-T-TCGGAAC |
c.201_202insGGAACC |
p.I67_C68insGT |
InFrameInsertion |
3/25 |
- |
1 |
9-5022188-C-A |
c.201C>A |
p.I67= |
Synonymous |
3/25 |
- |
1 |
9-5022188-C-G |
c.201C>G |
p.I67M |
Missense |
3/25 |
- |
3 |
9-5022188-C-T |
c.201C>T |
p.I67= |
Synonymous |
3/25 |
- |
1 |
9-5022189-T-C |
c.202T>C |
p.C68R |
Missense |
3/25 |
- |
1 |
9-5022192-A-C |
c.205A>C |
p.I69L |
Missense |
3/25 |
- |
1 |
9-5022192-A-T |
c.205A>T |
p.I69F |
Missense |
3/25 |
- |
1 |
9-5022193-T-C |
c.206T>C |
p.I69T |
Missense |
3/25 |
- |
2 |
9-5022194-T-A |
c.207T>A |
p.I69= |
Synonymous |
3/25 |
- |
1 |
9-5022194-T-C |
c.207T>C |
p.I69= |
Synonymous |
3/25 |
- |
1 |
9-5022195-G-A |
c.208G>A |
p.A70T |
Missense |
3/25 |
- |
1 |
9-5022195-GC-TG |
c.208_209delinsTG |
p.A70C |
Missense |
3/25 |
- |
1 |
9-5022196-C-G |
c.209C>G |
p.A70G |
Missense |
3/25 |
- |
1 |
9-5022196-C-T |
c.209C>T |
p.A70V |
Missense |
3/25 |
- |
3 |
9-5022196-GC-G |
c.209del |
p.A70Vfs*18 |
Frameshift |
3/25 |
- |
1 |
9-5022198-GC-TG |
c.211_212delinsTG |
p.A71C |
Missense |
3/25 |
- |
2 |
9-5022198-G-T |
c.211G>T |
p.A71S |
Missense |
3/25 |
- |
2 |
9-5022199-C-T |
c.212C>T |
p.A71V |
Missense |
3/25 |
- |
1 |
9-5022200-T-A |
c.213T>A |
p.A71= |
Synonymous |
3/25 |
- |
1 |
9-5022200-T-C |
c.213T>C |
p.A71= |
Synonymous |
3/25 |
- |
1 |
9-5022200-T-G |
c.213T>G |
p.A71= |
Synonymous |
3/25 |
- |
1 |
9-5022201-T-C |
c.214T>C |
p.S72P |
Missense |
3/25 |
- |
1 |
9-5022202-C-T |
c.215C>T |
p.S72F |
Missense |
3/25 |
- |
1 |
9-5022204-A-G |
c.217A>G |
p.K73E |
Missense |
3/25 |
- |
1 |
9-5022206-A-C |
c.219A>C |
p.K73N |
Missense |
3/25 |
- |
1 |
9-5022206-A-T |
c.219A>T |
p.K73N |
Missense |
3/25 |
- |
1 |
9-5022207-G-A |
c.220G>A |
p.A74T |
Missense |
3/25 |
- |
1 |
9-5022207-GC-TT |
c.220_221delinsTT |
p.A74F |
Missense |
3/25 |
- |
1 |
9-5022208-C-G |
c.221C>G |
p.A74G |
Missense |
3/25 |
- |
1 |
9-5022208-C-T |
c.221C>T |
p.A74V |
Missense |
3/25 |
- |
3 |
9-5022209-T-A |
c.222T>A |
p.A74= |
Synonymous |
3/25 |
- |
1 |
9-5022209-T-C |
c.222T>C |
p.A74= |
Synonymous |
3/25 |
- |
1 |
9-5022209-T-G |
c.222T>G |
p.A74= |
Synonymous |
3/25 |
- |
1 |
9-5022208-C-CT |
c.223dup |
p.C75Lfs*9 |
Frameshift |
3/25 |
- |
1 |
9-5022211-G-T |
c.224G>T |
p.C75F |
Missense |
3/25 |
- |
4 |
9-5022212-T-C |
c.225T>C |
p.C75= |
Synonymous |
3/25 |
- |
1 |
9-5022213-G-A |
c.226G>A |
p.G76S |
Missense |
3/25 |
- |
2 |
9-5022213-G-C |
c.226G>C |
p.G76R |
Missense |
3/25 |
- |
1 |
9-5022213-G-T |
c.226G>T |
p.G76C |
Missense |
3/25 |
- |
1 |
9-5022214-G-A |
c.226+1G>A |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5022214-G-T |
c.226+1G>T |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5022216-A-T |
c.226+3A>T |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5022232-C-A |
c.226+19C>A |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5022284-T-A |
c.226+71T>A |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5022807-C-T |
c.226+594C>T |
- |
IntronicSNV |
- |
3/24 |
4 |
9-5023441-G-A |
c.226+1228G>A |
- |
IntronicSNV |
- |
3/24 |
2 |
9-5023604-A-C |
c.226+1391A>C |
- |
IntronicSNV |
- |
3/24 |
2 |
9-5023794-G-T |
c.226+1581G>T |
- |
IntronicSNV |
- |
3/24 |
2 |
9-5024427-T-A |
c.226+2214T>A |
- |
IntronicSNV |
- |
3/24 |
2 |
9-5025746-T-G |
c.226+3533T>G |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5026293-A-G |
c.227-3490A>G |
- |
IntronicSNV |
- |
3/24 |
3 |
9-5028813-C-T |
c.227-970C>T |
- |
IntronicSNV |
- |
3/24 |
2 |
9-5028921-C-G |
c.227-862C>G |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5029077-T-G |
c.227-706T>G |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5029785-A-G |
c.229A>G |
p.I77V |
Missense |
4/25 |
- |
1 |
9-5029787-C-A |
c.231C>A |
p.I77= |
Synonymous |
4/25 |
- |
4 |
9-5029787-C-T |
c.231C>T |
p.I77= |
Synonymous |
4/25 |
- |
6 |
9-5029790-CACCTGT-C |
c.234_239del |
p.P79_V80del |
InFrameDeletion |
4/25 |
- |
1 |
9-5029791-C-T |
c.235C>T |
p.P79S |
Missense |
4/25 |
- |
1 |
9-5029792-C-T |
c.236C>T |
p.P79L |
Missense |
4/25 |
- |
1 |
9-5029794-G-A |
c.238G>A |
p.V80M |
Missense |
4/25 |
- |
3 |
9-5029794-G-C |
c.238G>C |
p.V80L |
Missense |
4/25 |
- |
1 |
9-5029794-G-T |
c.238G>T |
p.V80L |
Missense |
4/25 |
- |
1 |
9-5029794-GT-AG |
c.238_239delinsAG |
p.V80R |
Missense |
4/25 |
- |
1 |
9-5029795-T-A |
c.239T>A |
p.V80E |
Missense |
4/25 |
- |
3 |
9-5029795-T-C |
c.239T>C |
p.V80A |
Missense |
4/25 |
- |
2 |
9-5029797-TA-GC |
c.241_242delinsGC |
p.Y81A |
Missense |
4/25 |
- |
1 |
9-5029797-T-C |
c.241T>C |
p.Y81H |
Missense |
4/25 |
- |
1 |
9-5029798-A-T |
c.242A>T |
p.Y81F |
Missense |
4/25 |
- |
1 |
9-5029799-T-G |
c.243T>G |
p.Y81* |
Nonsense |
4/25 |
- |
1 |
9-5029800-C-T |
c.244C>T |
p.H82Y |
Missense |
4/25 |
- |
2 |
9-5029801-A-G |
c.245A>G |
p.H82R |
Missense |
4/25 |
- |
2 |
9-5029801-A-T |
c.245A>T |
p.H82L |
Missense |
4/25 |
- |
1 |
9-5029803-A-T |
c.247A>T |
p.N83Y |
Missense |
4/25 |
- |
1 |
9-5029800-CATA-C |
c.248_250del |
p.N83del |
InFrameDeletion |
4/25 |
- |
1 |
9-5029804-A-T |
c.248A>T |
p.N83I |
Missense |
4/25 |
- |
1 |
9-5029803-AAT-A |
c.250_251del |
p.M84Vfs*6 |
Frameshift |
4/25 |
- |
1 |
9-5029808-G-A |
c.252G>A |
p.M84I |
Missense |
4/25 |
- |
1 |
9-5029809-T-A |
c.253T>A |
p.F85I |
Missense |
4/25 |
- |
1 |
9-5029809-T-C |
c.253T>C |
p.F85L |
Missense |
4/25 |
- |
1 |
9-5029811-T-A |
c.255T>A |
p.F85L |
Missense |
4/25 |
- |
1 |
9-5029811-T-G |
c.255T>G |
p.F85L |
Missense |
4/25 |
- |
1 |
9-5029810-T-C |
c.254T>C |
p.F85S |
Missense |
4/25 |
- |
1 |
9-5029813-C-T |
c.257C>T |
p.A86V |
Missense |
4/25 |
- |
2 |
9-5029814-T-C |
c.258T>C |
p.A86= |
Synonymous |
4/25 |
- |
1 |
9-5029815-TT-CC |
c.259_260delinsCC |
p.L87P |
Missense |
4/25 |
- |
1 |
9-5029819-T-C |
c.263T>C |
p.M88T |
Missense |
4/25 |
- |
1 |
9-5029820-G-T |
c.264G>T |
p.M88I |
Missense |
4/25 |
- |
1 |
9-5029821-AG-GC |
c.265_266delinsGC |
p.S89A |
Missense |
4/25 |
- |
1 |
9-5029821-A-T |
c.265A>T |
p.S89C |
Missense |
4/25 |
- |
1 |
9-5029822-G-C |
c.266G>C |
p.S89T |
Missense |
4/25 |
- |
2 |
9-5029824-G-A |
c.268G>A |
p.E90K |
Missense |
4/25 |
- |
2 |
9-5029824-GAA-TTT |
c.268_270delinsTTT |
p.E90F |
Missense |
4/25 |
- |
1 |
9-5029824-G-C |
c.268G>C |
p.E90Q |
Missense |
4/25 |
- |
1 |
9-5029824-G-T |
c.268G>T |
p.E90* |
Nonsense |
4/25 |
- |
4 |
9-5029825-A-C |
c.269A>C |
p.E90A |
Missense |
4/25 |
- |
1 |
9-5029828-C-G |
c.272C>G |
p.T91R |
Missense |
4/25 |
- |
1 |
9-5029828-C-T |
c.272C>T |
p.T91I |
Missense |
4/25 |
- |
1 |
9-5029829-A-T |
c.273A>T |
p.T91= |
Synonymous |
4/25 |
- |
1 |
9-5029830-G-A |
c.274G>A |
p.E92K |
Missense |
4/25 |
- |
2 |
9-5029830-GAA-TTT |
c.274_276delinsTTT |
p.E92F |
Missense |
4/25 |
- |
1 |
9-5029831-A-G |
c.275A>G |
p.E92G |
Missense |
4/25 |
- |
1 |
9-5029831-A-T |
c.275A>T |
p.E92V |
Missense |
4/25 |
- |
1 |
9-5029833-AGG-CAT |
c.277_279delinsCAT |
p.R93H |
Missense |
4/25 |
- |
1 |
9-5029833-AG-TA |
c.277_278delinsTA |
p.R93* |
Nonsense |
4/25 |
- |
2 |
9-5029834-G-A |
c.278G>A |
p.R93K |
Missense |
4/25 |
- |
1 |
9-5029835-G-C |
c.279G>C |
p.R93S |
Missense |
4/25 |
- |
1 |
9-5029835-G-T |
c.279G>T |
p.R93S |
Missense |
4/25 |
- |
1 |
9-5029836-A-G |
c.280A>G |
p.I94V |
Missense |
4/25 |
- |
1 |
9-5029838-C-G |
c.282C>G |
p.I94M |
Missense |
4/25 |
- |
1 |
9-5029842-T-C |
c.286T>C |
p.Y96H |
Missense |
4/25 |
- |
1 |
9-5029845-C-A |
c.289C>A |
p.P97T |
Missense |
4/25 |
- |
2 |
9-5029845-C-G |
c.289C>G |
p.P97A |
Missense |
4/25 |
- |
2 |
9-5029846-CA-AT |
c.290_291delinsAT |
p.P97H |
Missense |
4/25 |
- |
1 |
9-5029847-A-G |
c.291A>G |
p.P97= |
Synonymous |
4/25 |
- |
1 |
9-5029848-C-A |
c.292C>A |
p.P98T |
Missense |
4/25 |
- |
1 |
9-5029848-C-G |
c.292C>G |
p.P98A |
Missense |
4/25 |
- |
1 |
9-5029848-C-T |
c.292C>T |
p.P98S |
Missense |
4/25 |
- |
1 |
9-5029851-A-T |
c.295A>T |
p.N99Y |
Missense |
4/25 |
- |
1 |
9-5029852-A-G |
c.296A>G |
p.N99S |
Missense |
4/25 |
- |
1 |
9-5029854-C-A |
c.298C>A |
p.H100N |
Missense |
4/25 |
- |
2 |
9-5029854-CAT-TAA |
c.298_300delinsTAA |
p.H100* |
Nonsense |
4/25 |
- |
1 |
9-5029854-C-CTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA |
c.298_299insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA |
p.H100delinsLFFFKQKTAYEILGCDWSSDVCSSDLKATARN |
MultiAAMissense |
4/25 |
- |
1 |
9-5029854-C-T |
c.298C>T |
p.H100Y |
Missense |
4/25 |
- |
1 |
9-5029857-GT-TG |
c.301_302delinsTG |
p.V101C |
Missense |
4/25 |
- |
1 |
9-5029858-T-C |
c.302T>C |
p.V101A |
Missense |
4/25 |
- |
1 |
9-5029859-C-A |
c.303C>A |
p.V101= |
Synonymous |
4/25 |
- |
4 |
9-5029859-C-G |
c.303C>G |
p.V101= |
Synonymous |
4/25 |
- |
1 |
9-5029859-C-T |
c.303C>T |
p.V101= |
Synonymous |
4/25 |
- |
2 |
9-5029860-T-C |
c.304T>C |
p.F102L |
Missense |
4/25 |
- |
1 |
9-5029859-C-CT |
c.305dup |
p.H103Pfs*4 |
Frameshift |
4/25 |
- |
1 |
9-5029861-T-G |
c.305T>G |
p.F102C |
Missense |
4/25 |
- |
1 |
9-5029862-C-T |
c.306C>T |
p.F102= |
Synonymous |
4/25 |
- |
1 |
9-5029862-TCC-T |
c.306_307del |
p.F102Lfs*4 |
Frameshift |
4/25 |
- |
1 |
9-5029863-C-T |
c.307C>T |
p.H103Y |
Missense |
4/25 |
- |
4 |
9-5029864-A-G |
c.308A>G |
p.H103R |
Missense |
4/25 |
- |
2 |
9-5029867-T-A |
c.311T>A |
p.I104K |
Missense |
4/25 |
- |
1 |
9-5029867-T-C |
c.311T>C |
p.I104T |
Missense |
4/25 |
- |
1 |
9-5029869-G-A |
c.313G>A |
p.D105N |
Missense |
4/25 |
- |
1 |
9-5029869-G-C |
c.313G>C |
p.D105H |
Missense |
4/25 |
- |
1 |
9-5029869-G-T |
c.313G>T |
p.D105Y |
Missense |
4/25 |
- |
1 |
9-5029871-T-C |
c.315T>C |
p.D105= |
Synonymous |
4/25 |
- |
1 |
9-5029872-G-A |
c.316G>A |
p.E106K |
Missense |
4/25 |
- |
1 |
9-5029873-A-G |
c.317A>G |
p.E106G |
Missense |
4/25 |
- |
1 |
9-5029873-A-T |
c.317A>T |
p.E106V |
Missense |
4/25 |
- |
4 |
9-5029878-A-G |
c.322A>G |
p.T108A |
Missense |
4/25 |
- |
7 |
9-5029878-A-T |
c.322A>T |
p.T108S |
Missense |
4/25 |
- |
1 |
9-5029881-A-G |
c.325A>G |
p.R109G |
Missense |
4/25 |
- |
2 |
9-5029884-C-A |
c.328C>A |
p.H110N |
Missense |
4/25 |
- |
1 |
9-5029884-C-T |
c.328C>T |
p.H110Y |
Missense |
4/25 |
- |
3 |
9-5029885-A-C |
c.329A>C |
p.H110P |
Missense |
4/25 |
- |
1 |
9-5029885-A-G |
c.329A>G |
p.H110R |
Missense |
4/25 |
- |
1 |
9-5029886-T-A |
c.330T>A |
p.H110Q |
Missense |
4/25 |
- |
1 |
9-5029887-AA-GG |
c.331_332delinsGG |
p.N111G |
Missense |
4/25 |
- |
1 |
9-5029888-A-C |
c.332A>C |
p.N111T |
Missense |
4/25 |
- |
1 |
9-5029888-A-G |
c.332A>G |
p.N111S |
Missense |
4/25 |
- |
2 |
9-5029888-A-T |
c.332A>T |
p.N111I |
Missense |
4/25 |
- |
1 |
9-5029890-G-C |
c.334G>C |
p.V112L |
Missense |
4/25 |
- |
1 |
9-5029890-G-T |
c.334G>T |
p.V112L |
Missense |
4/25 |
- |
1 |
9-5029891-T-C |
c.335T>C |
p.V112A |
Missense |
4/25 |
- |
1 |
9-5029893-C-G |
c.337C>G |
p.L113V |
Missense |
4/25 |
- |
10 |
9-5029893-C-T |
c.337C>T |
p.L113F |
Missense |
4/25 |
- |
1 |
9-5029895-C-T |
c.339C>T |
p.L113= |
Synonymous |
4/25 |
- |
1 |
9-5029896-TA-GC |
c.340_341delinsGC |
p.Y114A |
Missense |
4/25 |
- |
8 |
9-5029897-A-G |
c.341A>G |
p.Y114C |
Missense |
4/25 |
- |
7 |
9-5029897-A-T |
c.341A>T |
p.Y114F |
Missense |
4/25 |
- |
1 |
9-5029898-C-A |
c.342C>A |
p.Y114* |
Nonsense |
4/25 |
- |
1 |
9-5029898-C-CT |
c.342_343insT |
p.R115* |
Nonsense |
4/25 |
- |
1 |
9-5029899-AGA-CAT |
c.343_345delinsCAT |
p.R115H |
Missense |
4/25 |
- |
1 |
9-5029899-AGA-TGG |
c.343_345delinsTGG |
p.R115W |
Missense |
4/25 |
- |
1 |
9-5029899-AG-CA |
c.343_344delinsCA |
p.R115Q |
Missense |
4/25 |
- |
1 |
9-5029900-G-A |
c.344G>A |
p.R115K |
Missense |
4/25 |
- |
1 |
9-5029900-G-T |
c.344G>T |
p.R115I |
Missense |
4/25 |
- |
15 |
9-5029905-A-G |
c.349A>G |
p.R117G |
Missense |
4/25 |
- |
2 |
9-5029905-AG-CT |
c.349_350inv |
p.R117L |
Missense |
4/25 |
- |
2 |
9-5029906-G-A |
c.350G>A |
p.R117K |
Missense |
4/25 |
- |
1 |
9-5029908-T-G |
c.350+2T>G |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5029941-A-T |
c.350+35A>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5029959-AATT-A |
c.350+56_350+58del |
- |
IntronicDeletion |
- |
4/24 |
1 |
9-5030080-T-C |
c.350+174T>C |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5033677-G-C |
c.350+3771G>C |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5033882-C-A |
c.350+3976C>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5034275-T-C |
c.350+4369T>C |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5034275-T-G |
c.350+4369T>G |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5034280-A-C |
c.350+4374A>C |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5034612-A-C |
c.350+4706A>C |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5035586-A-T |
c.350+5680A>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5036219-G-A |
c.350+6313G>A |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5037002-T-A |
c.350+7096T>A |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5037180-T-C |
c.351-7223T>C |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5037393-A-C |
c.351-7010A>C |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5037694-C-G |
c.351-6709C>G |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5037694-C-T |
c.351-6709C>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5038164-G-A |
c.351-6239G>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5038180-C-A |
c.351-6223C>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5038180-C-T |
c.351-6223C>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5039652-A-C |
c.351-4751A>C |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5039652-A-T |
c.351-4751A>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5040080-A-G |
c.351-4323A>G |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5040163-G-A |
c.351-4240G>A |
- |
IntronicSNV |
- |
4/24 |
4 |
9-5040203-T-A |
c.351-4200T>A |
- |
IntronicSNV |
- |
4/24 |
8 |
9-5040786-T-A |
c.351-3617T>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5041680-T-G |
c.351-2723T>G |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5041690-C-G |
c.351-2713C>G |
- |
IntronicSNV |
- |
4/24 |
3 |
9-5041690-C-T |
c.351-2713C>T |
- |
IntronicSNV |
- |
4/24 |
3 |
9-5041692-G-T |
c.351-2711G>T |
- |
IntronicSNV |
- |
4/24 |
3 |
9-5041756-C-G |
c.351-2647C>G |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5042046-C-T |
c.351-2357C>T |
- |
IntronicSNV |
- |
4/24 |
3 |
9-5042082-G-A |
c.351-2321G>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5042226-C-T |
c.351-2177C>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5042237-C-A |
c.351-2166C>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5042237-C-T |
c.351-2166C>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5042757-G-A |
c.351-1646G>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5042981-G-C |
c.351-1422G>C |
- |
IntronicSNV |
- |
4/24 |
3 |
9-5042981-G-T |
c.351-1422G>T |
- |
IntronicSNV |
- |
4/24 |
3 |
9-5043152-T-C |
c.351-1251T>C |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5043156-C-T |
c.351-1247C>T |
- |
IntronicSNV |
- |
4/24 |
4 |
9-5043688-C-G |
c.351-715C>G |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5043767-A-T |
c.351-636A>T |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5044403-A-C |
c.351A>C |
p.R117S |
Missense |
5/25 |
- |
2 |
9-5044403-A-T |
c.351A>T |
p.R117S |
Missense |
5/25 |
- |
1 |
9-5044404-T-C |
c.352T>C |
p.F118L |
Missense |
5/25 |
- |
5 |
9-5044406-T-A |
c.354T>A |
p.F118L |
Missense |
5/25 |
- |
3 |
9-5044406-T-G |
c.354T>G |
p.F118L |
Missense |
5/25 |
- |
3 |
9-5044407-TAC-GAG |
c.355_357delinsGAG |
p.Y119E |
Missense |
5/25 |
- |
5 |
9-5044407-TA-GC |
c.355_356delinsGC |
p.Y119A |
Missense |
5/25 |
- |
1 |
9-5044407-T-C |
c.355T>C |
p.Y119H |
Missense |
5/25 |
- |
1 |
9-5044408-A-T |
c.356A>T |
p.Y119F |
Missense |
5/25 |
- |
2 |
9-5044411-T-G |
c.359T>G |
p.F120C |
Missense |
5/25 |
- |
1 |
9-5044413-C-G |
c.361C>G |
p.P121A |
Missense |
5/25 |
- |
2 |
9-5044413-C-T |
c.361C>T |
p.P121S |
Missense |
5/25 |
- |
2 |
9-5044414-C-G |
c.362C>G |
p.P121R |
Missense |
5/25 |
- |
1 |
9-5044414-C-T |
c.362C>T |
p.P121L |
Missense |
5/25 |
- |
3 |
9-5044416-C-A |
c.364C>A |
p.R122S |
Missense |
5/25 |
- |
1 |
9-5044416-C-G |
c.364C>G |
p.R122G |
Missense |
5/25 |
- |
1 |
9-5044416-CGT-TGG |
c.364_366delinsTGG |
p.R122W |
Missense |
5/25 |
- |
1 |
9-5044416-C-T |
c.364C>T |
p.R122C |
Missense |
5/25 |
- |
1 |
9-5044416-C-TTTT |
c.364delinsTTTT |
p.R122delinsFC |
MultiAAMissense |
5/25 |
- |
1 |
9-5044417-G-A |
c.365G>A |
p.R122H |
Missense |
5/25 |
- |
7 |
9-5044417-G-C |
c.365G>C |
p.R122P |
Missense |
5/25 |
- |
2 |
9-5044417-G-T |
c.365G>T |
p.R122L |
Missense |
5/25 |
- |
7 |
9-5044417-GT-AA |
c.365_366delinsAA |
p.R122Q |
Missense |
5/25 |
- |
1 |
9-5044418-T-C |
c.366T>C |
p.R122= |
Synonymous |
5/25 |
- |
1 |
9-5044419-TTG-T |
c.367_368del |
p.W123Vfs*18 |
Frameshift |
5/25 |
- |
1 |
9-5044420-G-A |
c.368G>A |
p.W123* |
Nonsense |
5/25 |
- |
1 |
9-5044420-G-T |
c.368G>T |
p.W123L |
Missense |
5/25 |
- |
1 |
9-5044422-T-A |
c.370T>A |
p.Y124N |
Missense |
5/25 |
- |
1 |
9-5044422-T-C |
c.370T>C |
p.Y124H |
Missense |
5/25 |
- |
1 |
9-5044422-T-G |
c.370T>G |
p.Y124D |
Missense |
5/25 |
- |
1 |
9-5044423-A-G |
c.371A>G |
p.Y124C |
Missense |
5/25 |
- |
2 |
9-5044423-A-T |
c.371A>T |
p.Y124F |
Missense |
5/25 |
- |
1 |
9-5044425-T-A |
c.373T>A |
p.C125S |
Missense |
5/25 |
- |
1 |
9-5044426-G-C |
c.374G>C |
p.C125S |
Missense |
5/25 |
- |
1 |
9-5044427-C-A |
c.375C>A |
p.C125* |
Nonsense |
5/25 |
- |
1 |
9-5044427-C-T |
c.375C>T |
p.C125= |
Synonymous |
5/25 |
- |
1 |
9-5044428-A-G |
c.376A>G |
p.S126G |
Missense |
5/25 |
- |
3 |
9-5044428-A-T |
c.376A>T |
p.S126C |
Missense |
5/25 |
- |
1 |
9-5044429-G-A |
c.377G>A |
p.S126N |
Missense |
5/25 |
- |
7 |
9-5044430-T-A |
c.378T>A |
p.S126R |
Missense |
5/25 |
- |
1 |
9-5044431-G-A |
c.379G>A |
p.G127S |
Missense |
5/25 |
- |
1 |
9-5044431-G-T |
c.379G>T |
p.G127C |
Missense |
5/25 |
- |
2 |
9-5044432-G-A |
c.380G>A |
p.G127D |
Missense |
5/25 |
- |
17 |
9-5044432-G-C |
c.380G>C |
p.G127A |
Missense |
5/25 |
- |
3 |
9-5044434-AG-CC |
c.382_383delinsCC |
p.S128P |
Missense |
5/25 |
- |
3 |
9-5044434-AG-GC |
c.382_383delinsGC |
p.S128A |
Missense |
5/25 |
- |
1 |
9-5044434-AG-TA |
c.382_383delinsTA |
p.S128Y |
Missense |
5/25 |
- |
1 |
9-5044434-A-T |
c.382A>T |
p.S128C |
Missense |
5/25 |
- |
2 |
9-5044434-A-C |
c.382A>C |
p.S128R |
Missense |
5/25 |
- |
2 |
9-5044436-C-A |
c.384C>A |
p.S128R |
Missense |
5/25 |
- |
2 |
9-5044436-C-G |
c.384C>G |
p.S128R |
Missense |
5/25 |
- |
2 |
9-5044438-A-G |
c.386A>G |
p.N129S |
Missense |
5/25 |
- |
1 |
9-5044439-C-A |
c.387C>A |
p.N129K |
Missense |
5/25 |
- |
1 |
9-5044439-C-G |
c.387C>G |
p.N129K |
Missense |
5/25 |
- |
1 |
9-5044440-A-G |
c.388A>G |
p.R130G |
Missense |
5/25 |
- |
4 |
9-5044440-AGA-CAT |
c.388_390delinsCAT |
p.R130H |
Missense |
5/25 |
- |
2 |
9-5044440-AG-CA |
c.388_389delinsCA |
p.R130Q |
Missense |
5/25 |
- |
5 |
9-5044440-A-T |
c.388A>T |
p.R130* |
Nonsense |
5/25 |
- |
2 |
9-5044441-G-A |
c.389G>A |
p.R130K |
Missense |
5/25 |
- |
9 |
9-5044441-G-C |
c.389G>C |
p.R130T |
Missense |
5/25 |
- |
1 |
9-5044443-G-C |
c.391G>C |
p.A131P |
Missense |
5/25 |
- |
2 |
9-5044444-C-A |
c.392C>A |
p.A131D |
Missense |
5/25 |
- |
1 |
9-5044444-C-T |
c.392C>T |
p.A131V |
Missense |
5/25 |
- |
1 |
9-5044445-C-A |
c.393C>A |
p.A131= |
Synonymous |
5/25 |
- |
1 |
9-5044445-C-G |
c.393C>G |
p.A131= |
Synonymous |
5/25 |
- |
1 |
9-5044445-C-T |
c.393C>T |
p.A131= |
Synonymous |
5/25 |
- |
1 |
9-5044446-TA-GC |
c.394_395delinsGC |
p.Y132A |
Missense |
5/25 |
- |
1 |
9-5044446-T-G |
c.394T>G |
p.Y132D |
Missense |
5/25 |
- |
1 |
9-5044447-A-G |
c.395A>G |
p.Y132C |
Missense |
5/25 |
- |
1 |
9-5044447-A-T |
c.395A>T |
p.Y132F |
Missense |
5/25 |
- |
3 |
9-5044448-T-A |
c.396T>A |
p.Y132* |
Nonsense |
5/25 |
- |
8 |
9-5044448-T-G |
c.396T>G |
p.Y132* |
Nonsense |
5/25 |
- |
10 |
9-5044449-C-A |
c.397C>A |
p.R133= |
Synonymous |
5/25 |
- |
1 |
9-5044449-CG-AA |
c.397_398delinsAA |
p.R133K |
Missense |
5/25 |
- |
2 |
9-5044449-C-T |
c.397C>T |
p.R133W |
Missense |
5/25 |
- |
9 |
9-5044451-G-A |
c.399G>A |
p.R133= |
Synonymous |
5/25 |
- |
2 |
9-5044451-G-C |
c.399G>C |
p.R133= |
Synonymous |
5/25 |
- |
1 |
9-5044451-G-T |
c.399G>T |
p.R133= |
Synonymous |
5/25 |
- |
1 |
9-5044450-G-A |
c.398G>A |
p.R133Q |
Missense |
5/25 |
- |
10 |
9-5044450-G-C |
c.398G>C |
p.R133P |
Missense |
5/25 |
- |
3 |
9-5044450-G-T |
c.398G>T |
p.R133L |
Missense |
5/25 |
- |
1 |
9-5044452-C-T |
c.400C>T |
p.H134Y |
Missense |
5/25 |
- |
1 |
9-5044453-A-G |
c.401A>G |
p.H134R |
Missense |
5/25 |
- |
4 |
9-5044455-GGA-TGT |
c.403_405delinsTGT |
p.G135C |
Missense |
5/25 |
- |
1 |
9-5044455-G-T |
c.403G>T |
p.G135* |
Nonsense |
5/25 |
- |
1 |
9-5044456-G-A |
c.404G>A |
p.G135E |
Missense |
5/25 |
- |
2 |
9-5044456-G-T |
c.404G>T |
p.G135V |
Missense |
5/25 |
- |
1 |
9-5044458-A-T |
c.406A>T |
p.I136L |
Missense |
5/25 |
- |
1 |
9-5044460-A-G |
c.408A>G |
p.I136M |
Missense |
5/25 |
- |
1 |
9-5044461-T-C |
c.409T>C |
p.S137P |
Missense |
5/25 |
- |
1 |
9-5044461-TC-CT |
c.409_410delinsCT |
p.S137L |
Missense |
5/25 |
- |
1 |
9-5044461-T-G |
c.409T>G |
p.S137A |
Missense |
5/25 |
- |
1 |
9-5044462-C-A |
c.410C>A |
p.S137Y |
Missense |
5/25 |
- |
1 |
9-5044462-C-CT |
c.411dup |
p.R138Sfs*4 |
Frameshift |
5/25 |
- |
1 |
9-5044464-C-A |
c.412C>A |
p.R138= |
Synonymous |
5/25 |
- |
1 |
9-5044464-C-G |
c.412C>G |
p.R138G |
Missense |
5/25 |
- |
1 |
9-5044464-CG-AC |
c.412_413delinsAC |
p.R138T |
Missense |
5/25 |
- |
1 |
9-5044464-CGA-TGT |
c.412_414delinsTGT |
p.R138C |
Missense |
5/25 |
- |
1 |
9-5044464-C-T |
c.412C>T |
p.R138* |
Nonsense |
5/25 |
- |
4 |
9-5044465-G-A |
c.413G>A |
p.R138Q |
Missense |
5/25 |
- |
12 |
9-5044465-G-C |
c.413G>C |
p.R138P |
Missense |
5/25 |
- |
5 |
9-5044468-G-T |
c.416G>T |
p.G139V |
Missense |
5/25 |
- |
3 |
9-5044473-G-A |
c.421G>A |
p.E141K |
Missense |
5/25 |
- |
1 |
9-5044476-G-A |
c.424G>A |
p.A142T |
Missense |
5/25 |
- |
1 |
9-5044479-C-T |
c.427C>T |
p.P143S |
Missense |
5/25 |
- |
6 |
9-5044480-C-A |
c.428C>A |
p.P143H |
Missense |
5/25 |
- |
1 |
9-5044480-C-G |
c.428C>G |
p.P143R |
Missense |
5/25 |
- |
1 |
9-5044482-C-G |
c.430C>G |
p.L144V |
Missense |
5/25 |
- |
2 |
9-5044482-C-T |
c.430C>T |
p.L144F |
Missense |
5/25 |
- |
2 |
9-5044483-T-C |
c.431T>C |
p.L144P |
Missense |
5/25 |
- |
1 |
9-5044483-TT-AA |
c.431_432inv |
p.L144Q |
Missense |
5/25 |
- |
1 |
9-5044485-C-T |
c.433C>T |
p.L145F |
Missense |
5/25 |
- |
3 |
9-5044486-TT-AA |
c.434_435inv |
p.L145Q |
Missense |
5/25 |
- |
1 |
9-5044488-G-A |
c.436G>A |
p.D146N |
Missense |
5/25 |
- |
3 |
9-5044488-G-C |
c.436G>C |
p.D146H |
Missense |
5/25 |
- |
5 |
9-5044490-T-A |
c.438T>A |
p.D146E |
Missense |
5/25 |
- |
1 |
9-5044491-G-A |
c.439G>A |
p.D147N |
Missense |
5/25 |
- |
1 |
9-5044493-CTT-C |
c.443_444del |
p.F148Cfs*12 |
Frameshift |
5/25 |
- |
1 |
9-5044497-G-A |
c.445G>A |
p.V149I |
Missense |
5/25 |
- |
1 |
9-5044497-G-C |
c.445G>C |
p.V149L |
Missense |
5/25 |
- |
2 |
9-5044497-G-T |
c.445G>T |
p.V149F |
Missense |
5/25 |
- |
1 |
9-5044497-GTC-ATG |
c.445_447delinsATG |
p.V149M |
Missense |
5/25 |
- |
2 |
9-5044498-T-C |
c.446T>C |
p.V149A |
Missense |
5/25 |
- |
2 |
9-5044502-G-A |
c.450G>A |
p.M150I |
Missense |
5/25 |
- |
2 |
9-5044502-G-C |
c.450G>C |
p.M150I |
Missense |
5/25 |
- |
1 |
9-5044502-G-T |
c.450G>T |
p.M150I |
Missense |
5/25 |
- |
1 |
9-5044503-TC-CT |
c.451_452delinsCT |
p.S151L |
Missense |
5/25 |
- |
1 |
9-5044503-T-G |
c.451T>G |
p.S151A |
Missense |
5/25 |
- |
1 |
9-5044504-C-T |
c.452C>T |
p.S151F |
Missense |
5/25 |
- |
1 |
9-5044504-CT-GG |
c.452_453delinsGG |
p.S151W |
Missense |
5/25 |
- |
1 |
9-5044507-A-C |
c.455A>C |
p.Y152S |
Missense |
5/25 |
- |
2 |
9-5044507-TA-T |
c.455del |
p.Y152Sfs*15 |
Frameshift |
5/25 |
- |
1 |
9-5044512-T-C |
c.460T>C |
p.F154L |
Missense |
5/25 |
- |
1 |
9-5044513-T-G |
c.461T>G |
p.F154C |
Missense |
5/25 |
- |
1 |
9-5044516-C-T |
c.464C>T |
p.A155V |
Missense |
5/25 |
- |
1 |
9-5044518-C-G |
c.466C>G |
p.Q156E |
Missense |
5/25 |
- |
1 |
9-5044519-A-G |
c.467A>G |
p.Q156R |
Missense |
5/25 |
- |
1 |
9-5044540-C-T |
c.468+20C>T |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5045328-C-G |
c.468+808C>G |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5045328-C-T |
c.468+808C>T |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5045658-G-A |
c.468+1138G>A |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5045695-C-T |
c.468+1175C>T |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5045916-C-A |
c.468+1396C>A |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5045916-C-T |
c.468+1396C>T |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5046548-A-C |
c.468+2028A>C |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5046881-T-A |
c.468+2361T>A |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5046881-T-C |
c.468+2361T>C |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5046935-T-C |
c.468+2415T>C |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5048213-C-T |
c.469-2473C>T |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5048814-G-A |
c.469-1872G>A |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5049065-G-T |
c.469-1621G>T |
- |
IntronicSNV |
- |
5/24 |
4 |
9-5049092-G-T |
c.469-1594G>T |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5050307-C-T |
c.469-379C>T |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5050369-G-C |
c.469-317G>C |
- |
IntronicSNV |
- |
5/24 |
3 |
9-5050687-G-A |
c.470G>A |
p.W157* |
Nonsense |
6/25 |
- |
3 |
9-5050688-G-A |
c.471G>A |
p.W157* |
Nonsense |
6/25 |
- |
2 |
9-5050688-G-C |
c.471G>C |
p.W157C |
Missense |
6/25 |
- |
1 |
9-5050689-C-A |
c.472C>A |
p.R158= |
Synonymous |
6/25 |
- |
1 |
9-5050689-C-G |
c.472C>G |
p.R158G |
Missense |
6/25 |
- |
2 |
9-5050689-C-T |
c.472C>T |
p.R158W |
Missense |
6/25 |
- |
7 |
9-5050691-G-A |
c.474G>A |
p.R158= |
Synonymous |
6/25 |
- |
1 |
9-5050691-G-C |
c.474G>C |
p.R158= |
Synonymous |
6/25 |
- |
1 |
9-5050691-G-T |
c.474G>T |
p.R158= |
Synonymous |
6/25 |
- |
2 |
9-5050690-G-A |
c.473G>A |
p.R158Q |
Missense |
6/25 |
- |
5 |
9-5050690-GG-AT |
c.473_474delinsAT |
p.R158H |
Missense |
6/25 |
- |
3 |
9-5050690-G-T |
c.473G>T |
p.R158L |
Missense |
6/25 |
- |
2 |
9-5050692-C-T |
c.475C>T |
p.H159Y |
Missense |
6/25 |
- |
2 |
9-5050695-G-C |
c.478G>C |
p.D160H |
Missense |
6/25 |
- |
2 |
9-5050696-A-T |
c.479A>T |
p.D160V |
Missense |
6/25 |
- |
2 |
9-5050701-G-A |
c.484G>A |
p.V162M |
Missense |
6/25 |
- |
1 |
9-5050701-G-C |
c.484G>C |
p.V162L |
Missense |
6/25 |
- |
2 |
9-5050701-G-T |
c.484G>T |
p.V162L |
Missense |
6/25 |
- |
3 |
9-5050702-T-G |
c.485T>G |
p.V162G |
Missense |
6/25 |
- |
1 |
9-5050704-C-G |
c.487C>G |
p.H163D |
Missense |
6/25 |
- |
1 |
9-5050704-C-T |
c.487C>T |
p.H163Y |
Missense |
6/25 |
- |
1 |
9-5050705-A-G |
c.488A>G |
p.H163R |
Missense |
6/25 |
- |
1 |
9-5050705-A-T |
c.488A>T |
p.H163L |
Missense |
6/25 |
- |
1 |
9-5050706-C-A |
c.489C>A |
p.H163Q |
Missense |
6/25 |
- |
1 |
9-5050706-C-T |
c.489C>T |
p.H163= |
Synonymous |
6/25 |
- |
36 |
9-5050707-G-A |
c.490G>A |
p.G164R |
Missense |
6/25 |
- |
3 |
9-5050707-G-C |
c.490G>C |
p.G164R |
Missense |
6/25 |
- |
1 |
9-5050707-G-T |
c.490G>T |
p.G164* |
Nonsense |
6/25 |
- |
1 |
9-5050708-G-A |
c.491G>A |
p.G164E |
Missense |
6/25 |
- |
1 |
9-5050708-G-C |
c.491G>C |
p.G164A |
Missense |
6/25 |
- |
2 |
9-5050708-G-T |
c.491G>T |
p.G164V |
Missense |
6/25 |
- |
1 |
9-5050710-T-C |
c.493T>C |
p.W165R |
Missense |
6/25 |
- |
1 |
9-5050711-G-A |
c.494G>A |
p.W165* |
Nonsense |
6/25 |
- |
1 |
9-5050712-G-A |
c.495G>A |
p.W165* |
Nonsense |
6/25 |
- |
1 |
9-5050712-G-C |
c.495G>C |
p.W165C |
Missense |
6/25 |
- |
1 |
9-5050712-G-T |
c.495G>T |
p.W165C |
Missense |
6/25 |
- |
1 |
9-5050713-A-G |
c.496A>G |
p.I166V |
Missense |
6/25 |
- |
2 |
9-5050713-ATA-TTT |
c.496_498delinsTTT |
p.I166F |
Missense |
6/25 |
- |
1 |
9-5050714-T-C |
c.497T>C |
p.I166T |
Missense |
6/25 |
- |
5 |
9-5050715-A-C |
c.498A>C |
p.I166= |
Synonymous |
6/25 |
- |
1 |
9-5050715-A-G |
c.498A>G |
p.I166M |
Missense |
6/25 |
- |
1 |
9-5050715-A-T |
c.498A>T |
p.I166= |
Synonymous |
6/25 |
- |
1 |
9-5050716-AA-GC |
c.499_500delinsGC |
p.K167A |
Missense |
6/25 |
- |
1 |
9-5050716-A-C |
c.499A>C |
p.K167Q |
Missense |
6/25 |
- |
1 |
9-5050717-AA-TG |
c.500_501delinsTG |
p.K167M |
Missense |
6/25 |
- |
1 |
9-5050717-A-G |
c.500A>G |
p.K167R |
Missense |
6/25 |
- |
1 |
9-5050714-TA-T |
c.501del |
p.V168Yfs*3 |
Frameshift |
6/25 |
- |
1 |
9-5050718-A-C |
c.501A>C |
p.K167N |
Missense |
6/25 |
- |
1 |
9-5050718-A-T |
c.501A>T |
p.K167N |
Missense |
6/25 |
- |
1 |
9-5050719-G-C |
c.502G>C |
p.V168L |
Missense |
6/25 |
- |
1 |
9-5050719-G-T |
c.502G>T |
p.V168L |
Missense |
6/25 |
- |
1 |
9-5050719-GTA-ATG |
c.502_504delinsATG |
p.V168M |
Missense |
6/25 |
- |
1 |
9-5050720-T-C |
c.503T>C |
p.V168A |
Missense |
6/25 |
- |
1 |
9-5050723-C-A |
c.506C>A |
p.P169H |
Missense |
6/25 |
- |
2 |
9-5050725-G-A |
c.508G>A |
p.V170M |
Missense |
6/25 |
- |
1 |
9-5050725-GTG-ATC |
c.508_510delinsATC |
p.V170I |
Missense |
6/25 |
- |
1 |
9-5050728-A-T |
c.511A>T |
p.T171S |
Missense |
6/25 |
- |
1 |
9-5050729-C-T |
c.512C>T |
p.T171I |
Missense |
6/25 |
- |
1 |
9-5050731-CA-GC |
c.514_515delinsGC |
p.H172A |
Missense |
6/25 |
- |
1 |
9-5050731-C-T |
c.514C>T |
p.H172Y |
Missense |
6/25 |
- |
1 |
9-5050732-A-G |
c.515A>G |
p.H172R |
Missense |
6/25 |
- |
1 |
9-5050732-A-T |
c.515A>T |
p.H172L |
Missense |
6/25 |
- |
1 |
9-5050734-G-A |
c.517G>A |
p.E173K |
Missense |
6/25 |
- |
2 |
9-5050735-A-G |
c.518A>G |
p.E173G |
Missense |
6/25 |
- |
2 |
9-5050737-A-G |
c.520A>G |
p.T174A |
Missense |
6/25 |
- |
2 |
9-5050738-CA-TG |
c.521_522inv |
p.T174M |
Missense |
6/25 |
- |
1 |
9-5050740-C-G |
c.523C>G |
p.Q175E |
Missense |
6/25 |
- |
1 |
9-5050740-C-T |
c.523C>T |
p.Q175* |
Nonsense |
6/25 |
- |
1 |
9-5050741-A-C |
c.524A>C |
p.Q175P |
Missense |
6/25 |
- |
1 |
9-5050742-G-A |
c.525G>A |
p.Q175= |
Synonymous |
6/25 |
- |
1 |
9-5050742-G-C |
c.525G>C |
p.Q175H |
Missense |
6/25 |
- |
2 |
9-5050743-G-A |
c.526G>A |
p.E176K |
Missense |
6/25 |
- |
1 |
9-5050743-G-C |
c.526G>C |
p.E176Q |
Missense |
6/25 |
- |
1 |
9-5050743-G-T |
c.526G>T |
p.E176* |
Nonsense |
6/25 |
- |
1 |
9-5050744-A-G |
c.527A>G |
p.E176G |
Missense |
6/25 |
- |
1 |
9-5050744-A-T |
c.527A>T |
p.E176V |
Missense |
6/25 |
- |
1 |
9-5050746-G-A |
c.529G>A |
p.E177K |
Missense |
6/25 |
- |
1 |
9-5050746-GAA-TGT |
c.529_531delinsTGT |
p.E177C |
Missense |
6/25 |
- |
1 |
9-5050746-G-C |
c.529G>C |
p.E177Q |
Missense |
6/25 |
- |
2 |
9-5050746-G-T |
c.529G>T |
p.E177* |
Nonsense |
6/25 |
- |
1 |
9-5050747-A-G |
c.530A>G |
p.E177G |
Missense |
6/25 |
- |
1 |
9-5050750-G-T |
c.533G>T |
p.C178F |
Missense |
6/25 |
- |
1 |
9-5050753-T-C |
c.536T>C |
p.L179P |
Missense |
6/25 |
- |
2 |
9-5050755-G-A |
c.538G>A |
p.G180R |
Missense |
6/25 |
- |
2 |
9-5050755-G-T |
c.538G>T |
p.G180W |
Missense |
6/25 |
- |
1 |
9-5050756-G-C |
c.539G>C |
p.G180A |
Missense |
6/25 |
- |
7 |
9-5050758-A-G |
c.541A>G |
p.M181V |
Missense |
6/25 |
- |
1 |
9-5050757-G-GATTC |
c.542_543insTCAT |
p.M181Ifs*23 |
Frameshift |
6/25 |
- |
1 |
9-5050759-T-G |
c.542T>G |
p.M181R |
Missense |
6/25 |
- |
1 |
9-5050760-G-C |
c.543G>C |
p.M181I |
Missense |
6/25 |
- |
1 |
9-5050761-G-A |
c.544G>A |
p.A182T |
Missense |
6/25 |
- |
1 |
9-5050762-C-T |
c.545C>T |
p.A182V |
Missense |
6/25 |
- |
1 |
9-5050764-G-A |
c.547G>A |
p.V183M |
Missense |
6/25 |
- |
1 |
9-5050764-GTG-ATC |
c.547_549delinsATC |
p.V183I |
Missense |
6/25 |
- |
2 |
9-5050765-T-C |
c.548T>C |
p.V183A |
Missense |
6/25 |
- |
1 |
9-5050765-TG-AC |
c.548_549delinsAC |
p.V183D |
Missense |
6/25 |
- |
1 |
9-5050767-GTT-G |
c.550_551del |
p.L184Rfs*18 |
Frameshift |
6/25 |
- |
1 |
9-5050767-TT-GC |
c.550_551delinsGC |
p.L184A |
Missense |
6/25 |
- |
1 |
9-5050769-A-C |
c.552A>C |
p.L184F |
Missense |
6/25 |
- |
1 |
9-5050769-A-T |
c.552A>T |
p.L184F |
Missense |
6/25 |
- |
1 |
9-5050770-G-A |
c.553G>A |
p.D185N |
Missense |
6/25 |
- |
1 |
9-5050770-G-C |
c.553G>C |
p.D185H |
Missense |
6/25 |
- |
2 |
9-5050770-G-T |
c.553G>T |
p.D185Y |
Missense |
6/25 |
- |
2 |
9-5050771-A-G |
c.554A>G |
p.D185G |
Missense |
6/25 |
- |
3 |
9-5050774-T-C |
c.557T>C |
p.M186T |
Missense |
6/25 |
- |
1 |
9-5050775-G-A |
c.558G>A |
p.M186I |
Missense |
6/25 |
- |
1 |
9-5050775-G-C |
c.558G>C |
p.M186I |
Missense |
6/25 |
- |
1 |
9-5050775-G-T |
c.558G>T |
p.M186I |
Missense |
6/25 |
- |
1 |
9-5050779-A-G |
c.562A>G |
p.R188G |
Missense |
6/25 |
- |
2 |
9-5050780-G-A |
c.563G>A |
p.R188K |
Missense |
6/25 |
- |
1 |
9-5050780-G-T |
c.563G>T |
p.R188I |
Missense |
6/25 |
- |
1 |
9-5050779-A-C |
c.562A>C |
p.R188= |
Synonymous |
6/25 |
- |
1 |
9-5050781-A-G |
c.564A>G |
p.R188= |
Synonymous |
6/25 |
- |
1 |
9-5050782-A-C |
c.565A>C |
p.I189L |
Missense |
6/25 |
- |
2 |
9-5050783-T-A |
c.566T>A |
p.I189K |
Missense |
6/25 |
- |
1 |
9-5050784-A-G |
c.567A>G |
p.I189M |
Missense |
6/25 |
- |
1 |
9-5050785-G-A |
c.568G>A |
p.A190T |
Missense |
6/25 |
- |
1 |
9-5050785-G-C |
c.568G>C |
p.A190P |
Missense |
6/25 |
- |
1 |
9-5050786-C-A |
c.569C>A |
p.A190D |
Missense |
6/25 |
- |
1 |
9-5050788-A-C |
c.571A>C |
p.K191Q |
Missense |
6/25 |
- |
3 |
9-5050789-A-G |
c.572A>G |
p.K191R |
Missense |
6/25 |
- |
1 |
9-5050790-A-G |
c.573A>G |
p.K191= |
Synonymous |
6/25 |
- |
1 |
9-5050791-G-T |
c.574G>T |
p.E192* |
Nonsense |
6/25 |
- |
4 |
9-5050793-A-C |
c.576A>C |
p.E192D |
Missense |
6/25 |
- |
1 |
9-5050793-A-T |
c.576A>T |
p.E192D |
Missense |
6/25 |
- |
1 |
9-5050794-A-C |
c.577A>C |
p.N193H |
Missense |
6/25 |
- |
1 |
9-5050795-A-C |
c.578A>C |
p.N193T |
Missense |
6/25 |
- |
1 |
9-5050796-C-A |
c.579C>A |
p.N193K |
Missense |
6/25 |
- |
1 |
9-5050797-G-A |
c.580G>A |
p.D194N |
Missense |
6/25 |
- |
3 |
9-5050797-G-T |
c.580G>T |
p.D194Y |
Missense |
6/25 |
- |
3 |
9-5050798-A-C |
c.581A>C |
p.D194A |
Missense |
6/25 |
- |
2 |
9-5050801-A-T |
c.584A>T |
p.Q195L |
Missense |
6/25 |
- |
1 |
9-5050802-A-G |
c.585A>G |
p.Q195= |
Synonymous |
6/25 |
- |
1 |
9-5050803-AC-TG |
c.586_587delinsTG |
p.T196C |
Missense |
6/25 |
- |
1 |
9-5050803-A-G |
c.586A>G |
p.T196A |
Missense |
6/25 |
- |
1 |
9-5050804-C-T |
c.587C>T |
p.T196I |
Missense |
6/25 |
- |
1 |
9-5050803-AC-A |
c.590del |
p.P197Hfs*28 |
Frameshift |
6/25 |
- |
1 |
9-5050807-C-T |
c.590C>T |
p.P197L |
Missense |
6/25 |
- |
1 |
9-5050809-C-T |
c.592C>T |
p.L198= |
Synonymous |
6/25 |
- |
1 |
9-5050811-G-A |
c.594G>A |
p.L198= |
Synonymous |
6/25 |
- |
2 |
9-5050811-G-C |
c.594G>C |
p.L198= |
Synonymous |
6/25 |
- |
1 |
9-5050811-G-T |
c.594G>T |
p.L198= |
Synonymous |
6/25 |
- |
1 |
9-5050812-G-A |
c.595G>A |
p.A199T |
Missense |
6/25 |
- |
1 |
9-5050813-C-G |
c.596C>G |
p.A199G |
Missense |
6/25 |
- |
1 |
9-5050813-C-T |
c.596C>T |
p.A199V |
Missense |
6/25 |
- |
1 |
9-5050814-C-T |
c.597C>T |
p.A199= |
Synonymous |
6/25 |
- |
2 |
9-5050815-A-T |
c.598A>T |
p.I200F |
Missense |
6/25 |
- |
1 |
9-5050816-T-C |
c.599T>C |
p.I200T |
Missense |
6/25 |
- |
1 |
9-5050817-C-A |
c.600C>A |
p.I200= |
Synonymous |
6/25 |
- |
1 |
9-5050817-C-T |
c.600C>T |
p.I200= |
Synonymous |
6/25 |
- |
1 |
9-5050819-A-G |
c.602A>G |
p.Y201C |
Missense |
6/25 |
- |
3 |
9-5050819-A-T |
c.602A>T |
p.Y201F |
Missense |
6/25 |
- |
1 |
9-5050824-T-A |
c.607T>A |
p.S203T |
Missense |
6/25 |
- |
2 |
9-5050825-C-T |
c.608C>T |
p.S203F |
Missense |
6/25 |
- |
1 |
9-5050826-CT-C |
c.609del |
p.I204Sfs*21 |
Frameshift |
6/25 |
- |
1 |
9-5050829-C-G |
c.612C>G |
p.I204M |
Missense |
6/25 |
- |
2 |
9-5050830-A-G |
c.613A>G |
p.S205G |
Missense |
6/25 |
- |
2 |
9-5050830-AG-CC |
c.613_614delinsCC |
p.S205P |
Missense |
6/25 |
- |
1 |
9-5050830-AG-CT |
c.613_614inv |
p.S205L |
Missense |
6/25 |
- |
1 |
9-5050830-AG-GC |
c.613_614delinsGC |
p.S205A |
Missense |
6/25 |
- |
1 |
9-5050831-G-A |
c.614G>A |
p.S205N |
Missense |
6/25 |
- |
1 |
9-5050846-C-T |
c.614+15C>T |
- |
IntronicSNV |
- |
6/24 |
1 |
9-5050879-T-C |
c.614+48T>C |
- |
IntronicSNV |
- |
6/24 |
1 |
9-5050910-C-T |
c.614+79C>T |
- |
IntronicSNV |
- |
6/24 |
2 |
9-5053743-C-G |
c.615-820C>G |
- |
IntronicSNV |
- |
6/24 |
3 |
9-5053743-C-T |
c.615-820C>T |
- |
IntronicSNV |
- |
6/24 |
3 |
9-5050830-A-C |
c.613A>C |
p.S205R |
Missense |
6/25 |
- |
1 |
9-5054563-C-A |
c.615C>A |
p.S205R |
Missense |
7/25 |
- |
1 |
9-5054563-C-G |
c.615C>G |
p.S205R |
Missense |
7/25 |
- |
1 |
9-5054566-ACAAGACAT-A |
c.618_625del |
p.K207Lfs*44 |
Frameshift |
7/25 |
- |
1 |
9-5054567-A-C |
c.619A>C |
p.K207Q |
Missense |
7/25 |
- |
1 |
9-5054568-A-C |
c.620A>C |
p.K207T |
Missense |
7/25 |
- |
1 |
9-5054568-A-G |
c.620A>G |
p.K207R |
Missense |
7/25 |
- |
1 |
9-5054569-G-A |
c.621G>A |
p.K207= |
Synonymous |
7/25 |
- |
1 |
9-5054569-G-C |
c.621G>C |
p.K207N |
Missense |
7/25 |
- |
1 |
9-5054569-G-T |
c.621G>T |
p.K207N |
Missense |
7/25 |
- |
1 |
9-5054573-T-G |
c.625T>G |
p.F209V |
Missense |
7/25 |
- |
1 |
9-5054574-T-C |
c.626T>C |
p.F209S |
Missense |
7/25 |
- |
1 |
9-5054575-C-G |
c.627C>G |
p.F209L |
Missense |
7/25 |
- |
2 |
9-5054576-T-C |
c.628T>C |
p.L210= |
Synonymous |
7/25 |
- |
1 |
9-5054576-TT-CC |
c.628_629delinsCC |
p.L210P |
Missense |
7/25 |
- |
1 |
9-5054578-A-G |
c.630A>G |
p.L210= |
Synonymous |
7/25 |
- |
2 |
9-5054579-C-T |
c.631C>T |
p.P211S |
Missense |
7/25 |
- |
1 |
9-5054580-C-T |
c.632C>T |
p.P211L |
Missense |
7/25 |
- |
1 |
9-5054581-A-C |
c.633A>C |
p.P211= |
Synonymous |
7/25 |
- |
1 |
9-5054581-A-G |
c.633A>G |
p.P211= |
Synonymous |
7/25 |
- |
1 |
9-5054581-A-T |
c.633A>T |
p.P211= |
Synonymous |
7/25 |
- |
1 |
9-5054582-A-G |
c.634A>G |
p.K212E |
Missense |
7/25 |
- |
1 |
9-5054583-A-G |
c.635A>G |
p.K212R |
Missense |
7/25 |
- |
1 |
9-5054585-T-A |
c.637T>A |
p.C213S |
Missense |
7/25 |
- |
1 |
9-5054586-G-A |
c.638G>A |
p.C213Y |
Missense |
7/25 |
- |
2 |
9-5054587-T-C |
c.639T>C |
p.C213= |
Synonymous |
7/25 |
- |
1 |
9-5054588-A-G |
c.640A>G |
p.I214V |
Missense |
7/25 |
- |
1 |
9-5054589-T-C |
c.641T>C |
p.I214T |
Missense |
7/25 |
- |
1 |
9-5054591-CGA-TGG |
c.643_645delinsTGG |
p.R215W |
Missense |
7/25 |
- |
1 |
9-5054591-CGA-TGT |
c.643_645delinsTGT |
p.R215C |
Missense |
7/25 |
- |
2 |
9-5054591-C-T |
c.643C>T |
p.R215* |
Nonsense |
7/25 |
- |
8 |
9-5054592-G-A |
c.644G>A |
p.R215Q |
Missense |
7/25 |
- |
8 |
9-5054592-GA-AT |
c.644_645delinsAT |
p.R215H |
Missense |
7/25 |
- |
1 |
9-5054592-G-T |
c.644G>T |
p.R215L |
Missense |
7/25 |
- |
1 |
9-5054595-C-A |
c.647C>A |
p.A216E |
Missense |
7/25 |
- |
1 |
9-5054595-C-G |
c.647C>G |
p.A216G |
Missense |
7/25 |
- |
1 |
9-5054595-C-T |
c.647C>T |
p.A216V |
Missense |
7/25 |
- |
1 |
9-5054597-AA-GC |
c.649_650delinsGC |
p.K217A |
Missense |
7/25 |
- |
1 |
9-5054598-A-G |
c.650A>G |
p.K217R |
Missense |
7/25 |
- |
1 |
9-5054599-G-A |
c.651G>A |
p.K217= |
Synonymous |
7/25 |
- |
1 |
9-5054599-G-C |
c.651G>C |
p.K217N |
Missense |
7/25 |
- |
2 |
9-5054599-G-T |
c.651G>T |
p.K217N |
Missense |
7/25 |
- |
2 |
9-5054603-CAA-TGT |
c.655_657delinsTGT |
p.Q219C |
Missense |
7/25 |
- |
1 |
9-5054603-C-T |
c.655C>T |
p.Q219* |
Nonsense |
7/25 |
- |
1 |
9-5054606-G-A |
c.658G>A |
p.D220N |
Missense |
7/25 |
- |
1 |
9-5054607-A-C |
c.659A>C |
p.D220A |
Missense |
7/25 |
- |
1 |
9-5054607-A-G |
c.659A>G |
p.D220G |
Missense |
7/25 |
- |
3 |
9-5054607-A-T |
c.659A>T |
p.D220V |
Missense |
7/25 |
- |
2 |
9-5054610-A-G |
c.662A>G |
p.Y221C |
Missense |
7/25 |
- |
1 |
9-5054610-A-T |
c.662A>T |
p.Y221F |
Missense |
7/25 |
- |
1 |
9-5054611-T-A |
c.663T>A |
p.Y221* |
Nonsense |
7/25 |
- |
1 |
9-5054611-T-G |
c.663T>G |
p.Y221* |
Nonsense |
7/25 |
- |
1 |
9-5054612-C-G |
c.664C>G |
p.H222D |
Missense |
7/25 |
- |
1 |
9-5054612-C-T |
c.664C>T |
p.H222Y |
Missense |
7/25 |
- |
1 |
9-5054612-TCA-T |
c.664_665del |
p.H222Yfs*31 |
Frameshift |
7/25 |
- |
1 |
9-5054615-A-G |
c.667A>G |
p.I223V |
Missense |
7/25 |
- |
1 |
9-5054616-T-C |
c.668T>C |
p.I223T |
Missense |
7/25 |
- |
2 |
9-5054618-T-G |
c.670T>G |
p.L224V |
Missense |
7/25 |
- |
1 |
9-5054618-TT-GA |
c.670_671delinsGA |
p.L224E |
Missense |
7/25 |
- |
2 |
9-5054619-T-A |
c.671T>A |
p.L224* |
Nonsense |
7/25 |
- |
1 |
9-5054622-C-G |
c.674C>G |
p.T225R |
Missense |
7/25 |
- |
1 |
9-5054622-C-T |
c.674C>T |
p.T225I |
Missense |
7/25 |
- |
2 |
9-5054624-AGG-TGT |
c.676_678delinsTGT |
p.R226C |
Missense |
7/25 |
- |
1 |
9-5054624-A-T |
c.676A>T |
p.R226W |
Missense |
7/25 |
- |
1 |
9-5054625-G-C |
c.677G>C |
p.R226T |
Missense |
7/25 |
- |
1 |
9-5054625-G-T |
c.677G>T |
p.R226M |
Missense |
7/25 |
- |
1 |
9-5054624-A-AG |
c.678dup |
p.K227Efs*27 |
Frameshift |
7/25 |
- |
2 |
9-5054626-G-T |
c.678G>T |
p.R226S |
Missense |
7/25 |
- |
1 |
9-5054628-A-G |
c.680A>G |
p.K227R |
Missense |
7/25 |
- |
1 |
9-5054630-C-A |
c.682C>A |
p.R228= |
Synonymous |
7/25 |
- |
1 |
9-5054630-C-G |
c.682C>G |
p.R228G |
Missense |
7/25 |
- |
1 |
9-5054630-CGA-TGG |
c.682_684delinsTGG |
p.R228W |
Missense |
7/25 |
- |
1 |
9-5054630-CGA-TGT |
c.682_684delinsTGT |
p.R228C |
Missense |
7/25 |
- |
1 |
9-5054630-C-T |
c.682C>T |
p.R228* |
Nonsense |
7/25 |
- |
4 |
9-5054631-G-A |
c.683G>A |
p.R228Q |
Missense |
7/25 |
- |
7 |
9-5054631-G-C |
c.683G>C |
p.R228P |
Missense |
7/25 |
- |
3 |
9-5054631-G-T |
c.683G>T |
p.R228L |
Missense |
7/25 |
- |
1 |
9-5054634-T-C |
c.686T>C |
p.I229T |
Missense |
7/25 |
- |
1 |
9-5054639-T-C |
c.691T>C |
p.Y231H |
Missense |
7/25 |
- |
2 |
9-5054642-AGA-CAT |
c.694_696delinsCAT |
p.R232H |
Missense |
7/25 |
- |
1 |
9-5054642-AGA-TAT |
c.694_696delinsTAT |
p.R232Y |
Missense |
7/25 |
- |
1 |
9-5054642-AGA-TGT |
c.694_696delinsTGT |
p.R232C |
Missense |
7/25 |
- |
1 |
9-5054643-G-A |
c.695G>A |
p.R232K |
Missense |
7/25 |
- |
2 |
9-5054643-G-C |
c.695G>C |
p.R232T |
Missense |
7/25 |
- |
2 |
9-5054644-A-T |
c.696A>T |
p.R232S |
Missense |
7/25 |
- |
1 |
9-5054646-T-C |
c.698T>C |
p.F233S |
Missense |
7/25 |
- |
1 |
9-5054646-T-G |
c.698T>G |
p.F233C |
Missense |
7/25 |
- |
1 |
9-5054647-T-C |
c.699T>C |
p.F233= |
Synonymous |
7/25 |
- |
1 |
9-5054648-CGC-TGG |
c.700_702delinsTGG |
p.R234W |
Missense |
7/25 |
- |
1 |
9-5054648-C-T |
c.700C>T |
p.R234C |
Missense |
7/25 |
- |
5 |
9-5054649-G-A |
c.701G>A |
p.R234H |
Missense |
7/25 |
- |
12 |
9-5054650-C-A |
c.702C>A |
p.R234= |
Synonymous |
7/25 |
- |
1 |
9-5054652-G-T |
c.704G>T |
p.R235I |
Missense |
7/25 |
- |
1 |
9-5054654-T-C |
c.706T>C |
p.F236L |
Missense |
7/25 |
- |
1 |
9-5054657-A-T |
c.709A>T |
p.I237F |
Missense |
7/25 |
- |
2 |
9-5054660-C-A |
c.712C>A |
p.Q238K |
Missense |
7/25 |
- |
4 |
9-5054660-C-T |
c.712C>T |
p.Q238* |
Nonsense |
7/25 |
- |
4 |
9-5054661-A-C |
c.713A>C |
p.Q238P |
Missense |
7/25 |
- |
1 |
9-5054662-G-A |
c.714G>A |
p.Q238= |
Synonymous |
7/25 |
- |
3 |
9-5054662-G-GGT |
c.714_715insGT |
p.Q239Vfs*13 |
Frameshift |
7/25 |
- |
1 |
9-5054663-C-A |
c.715C>A |
p.Q239K |
Missense |
7/25 |
- |
1 |
9-5054663-C-T |
c.715C>T |
p.Q239* |
Nonsense |
7/25 |
- |
1 |
9-5054665-A-G |
c.717A>G |
p.Q239= |
Synonymous |
7/25 |
- |
1 |
9-5054666-T-C |
c.718T>C |
p.F240L |
Missense |
7/25 |
- |
1 |
9-5054668-C-A |
c.720C>A |
p.F240L |
Missense |
7/25 |
- |
1 |
9-5054668-C-G |
c.720C>G |
p.F240L |
Missense |
7/25 |
- |
1 |
9-5054669-AG-TT |
c.721_722delinsTT |
p.S241F |
Missense |
7/25 |
- |
1 |
9-5054669-A-T |
c.721A>T |
p.S241C |
Missense |
7/25 |
- |
1 |
9-5054670-G-T |
c.722G>T |
p.S241I |
Missense |
7/25 |
- |
1 |
9-5054669-A-C |
c.721A>C |
p.S241R |
Missense |
7/25 |
- |
1 |
9-5054671-C-A |
c.723C>A |
p.S241R |
Missense |
7/25 |
- |
1 |
9-5054671-C-G |
c.723C>G |
p.S241R |
Missense |
7/25 |
- |
1 |
9-5054671-C-T |
c.723C>T |
p.S241= |
Synonymous |
7/25 |
- |
1 |
9-5054672-C-T |
c.724C>T |
p.Q242* |
Nonsense |
7/25 |
- |
1 |
9-5054676-G-A |
c.728G>A |
p.C243Y |
Missense |
7/25 |
- |
3 |
9-5054677-C-T |
c.729C>T |
p.C243= |
Synonymous |
7/25 |
- |
1 |
9-5054679-A-G |
c.731A>G |
p.K244R |
Missense |
7/25 |
- |
4 |
9-5054680-A-G |
c.732A>G |
p.K244= |
Synonymous |
7/25 |
- |
2 |
9-5054681-G-A |
c.733G>A |
p.A245T |
Missense |
7/25 |
- |
6 |
9-5054682-C-T |
c.734C>T |
p.A245V |
Missense |
7/25 |
- |
1 |
9-5054686-T-C |
c.738T>C |
p.T246= |
Synonymous |
7/25 |
- |
1 |
9-5054687-G-A |
c.739G>A |
p.A247T |
Missense |
7/25 |
- |
2 |
9-5054687-G-C |
c.739G>C |
p.A247P |
Missense |
7/25 |
- |
1 |
9-5054687-G-T |
c.739G>T |
p.A247S |
Missense |
7/25 |
- |
2 |
9-5054688-C-T |
c.740C>T |
p.A247V |
Missense |
7/25 |
- |
1 |
9-5054689-C-A |
c.741C>A |
p.A247= |
Synonymous |
7/25 |
- |
1 |
9-5054690-AGA-TGG |
c.742_744delinsTGG |
p.R248W |
Missense |
7/25 |
- |
5 |
9-5054690-AGA-TGT |
c.742_744delinsTGT |
p.R248C |
Missense |
7/25 |
- |
2 |
9-5054690-AG-CA |
c.742_743delinsCA |
p.R248Q |
Missense |
7/25 |
- |
5 |
9-5054691-G-A |
c.743G>A |
p.R248K |
Missense |
7/25 |
- |
2 |
9-5054691-G-C |
c.743G>C |
p.R248T |
Missense |
7/25 |
- |
1 |
9-5054692-A-C |
c.744A>C |
p.R248S |
Missense |
7/25 |
- |
1 |
9-5054692-A-G |
c.744A>G |
p.R248= |
Synonymous |
7/25 |
- |
1 |
9-5054676-G-GCAAAGCCACTGCCAGAATTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT |
c.745_746insTTTTTTTTTTCAAGCAGAAGACGGCATACGAGATTCTCGGTTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTCAAAGCCACTGCCAGAA |
p.R248_N249insIFFFKQKTAYEILGCDWSSDVCSSDLKATAR |
InFrameInsertion |
7/25 |
- |
1 |
9-5054695-C-T |
c.747C>T |
p.N249= |
Synonymous |
7/25 |
- |
1 |
9-5054696-T-C |
c.748T>C |
p.L250= |
Synonymous |
7/25 |
- |
1 |
9-5054696-T-G |
c.748T>G |
p.L250V |
Missense |
7/25 |
- |
2 |
9-5054697-T-C |
c.749T>C |
p.L250S |
Missense |
7/25 |
- |
1 |
9-5054698-G-A |
c.750G>A |
p.L250= |
Synonymous |
7/25 |
- |
1 |
9-5054699-AA-GG |
c.751_752delinsGG |
p.K251G |
Missense |
7/25 |
- |
1 |
9-5054699-A-G |
c.751A>G |
p.K251E |
Missense |
7/25 |
- |
1 |
9-5054702-C-G |
c.754C>G |
p.L252V |
Missense |
7/25 |
- |
1 |
9-5054703-T-C |
c.755T>C |
p.L252P |
Missense |
7/25 |
- |
1 |
9-5054705-AA-GG |
c.757_758delinsGG |
p.K253G |
Missense |
7/25 |
- |
1 |
9-5054705-A-G |
c.757A>G |
p.K253E |
Missense |
7/25 |
- |
1 |
9-5054706-A-G |
c.758A>G |
p.K253R |
Missense |
7/25 |
- |
1 |
9-5054707-G-A |
c.759G>A |
p.K253= |
Synonymous |
7/25 |
- |
2 |
9-5054707-G-C |
c.759G>C |
p.K253N |
Missense |
7/25 |
- |
2 |
9-5054707-G-T |
c.759G>T |
p.K253N |
Missense |
7/25 |
- |
1 |
9-5054708-T-C |
c.760T>C |
p.Y254H |
Missense |
7/25 |
- |
3 |
9-5054711-C-T |
c.763C>T |
p.L255F |
Missense |
7/25 |
- |
5 |
9-5054712-T-A |
c.764T>A |
p.L255H |
Missense |
7/25 |
- |
1 |
9-5054719-T-C |
c.771T>C |
p.N257= |
Synonymous |
7/25 |
- |
1 |
9-5054720-CTG-ATC |
c.772_774delinsATC |
p.L258I |
Missense |
7/25 |
- |
1 |
9-5054721-T-C |
c.773T>C |
p.L258P |
Missense |
7/25 |
- |
2 |
9-5054720-C-T |
c.772C>T |
p.L258= |
Synonymous |
7/25 |
- |
1 |
9-5054722-G-A |
c.774G>A |
p.L258= |
Synonymous |
7/25 |
- |
1 |
9-5054722-G-C |
c.774G>C |
p.L258= |
Synonymous |
7/25 |
- |
1 |
9-5054722-G-T |
c.774G>T |
p.L258= |
Synonymous |
7/25 |
- |
1 |
9-5054723-G-A |
c.775G>A |
p.E259K |
Missense |
7/25 |
- |
1 |
9-5054723-G-T |
c.775G>T |
p.E259* |
Nonsense |
7/25 |
- |
1 |
9-5054727-C-T |
c.779C>T |
p.T260I |
Missense |
7/25 |
- |
1 |
9-5054728-T-C |
c.780T>C |
p.T260= |
Synonymous |
7/25 |
- |
1 |
9-5054729-C-T |
c.781C>T |
p.L261= |
Synonymous |
7/25 |
- |
1 |
9-5054730-T-G |
c.782T>G |
p.L261R |
Missense |
7/25 |
- |
1 |
9-5054732-CA-GC |
c.784_785delinsGC |
p.Q262A |
Missense |
7/25 |
- |
1 |
9-5054732-C-T |
c.784C>T |
p.Q262* |
Nonsense |
7/25 |
- |
1 |
9-5054734-G-C |
c.786G>C |
p.Q262H |
Missense |
7/25 |
- |
1 |
9-5054734-G-T |
c.786G>T |
p.Q262H |
Missense |
7/25 |
- |
2 |
9-5054735-TC-AT |
c.787_788delinsAT |
p.S263I |
Missense |
7/25 |
- |
1 |
9-5054735-TC-CT |
c.787_788delinsCT |
p.S263L |
Missense |
7/25 |
- |
1 |
9-5054736-C-G |
c.788C>G |
p.S263C |
Missense |
7/25 |
- |
1 |
9-5054736-C-T |
c.788C>T |
p.S263F |
Missense |
7/25 |
- |
1 |
9-5054737-T-G |
c.789T>G |
p.S263= |
Synonymous |
7/25 |
- |
1 |
9-5054738-G-T |
c.790G>T |
p.A264S |
Missense |
7/25 |
- |
1 |
9-5054739-C-A |
c.791C>A |
p.A264D |
Missense |
7/25 |
- |
1 |
9-5054739-C-T |
c.791C>T |
p.A264V |
Missense |
7/25 |
- |
1 |
9-5054741-T-C |
c.793T>C |
p.F265L |
Missense |
7/25 |
- |
3 |
9-5054741-T-G |
c.793T>G |
p.F265V |
Missense |
7/25 |
- |
3 |
9-5054743-C-A |
c.795C>A |
p.F265L |
Missense |
7/25 |
- |
2 |
9-5054742-T-C |
c.794T>C |
p.F265S |
Missense |
7/25 |
- |
1 |
9-5054743-C-G |
c.795C>G |
p.F265L |
Missense |
7/25 |
- |
4 |
9-5054745-A-C |
c.797A>C |
p.Y266S |
Missense |
7/25 |
- |
1 |
9-5054745-A-G |
c.797A>G |
p.Y266C |
Missense |
7/25 |
- |
1 |
9-5054746-C-T |
c.798C>T |
p.Y266= |
Synonymous |
7/25 |
- |
2 |
9-5054747-A-C |
c.799A>C |
p.T267P |
Missense |
7/25 |
- |
1 |
9-5054748-AC-A |
c.800del |
p.T267Kfs*6 |
Frameshift |
7/25 |
- |
1 |
9-5054750-G-A |
c.802G>A |
p.E268K |
Missense |
7/25 |
- |
2 |
9-5054751-GA-G |
c.803del |
p.E268Gfs*5 |
Frameshift |
7/25 |
- |
1 |
9-5054752-G-A |
c.804G>A |
p.E268= |
Synonymous |
7/25 |
- |
1 |
9-5054752-G-C |
c.804G>C |
p.E268D |
Missense |
7/25 |
- |
4 |
9-5054752-G-T |
c.804G>T |
p.E268D |
Missense |
7/25 |
- |
3 |
9-5054753-A-C |
c.805A>C |
p.K269Q |
Missense |
7/25 |
- |
4 |
9-5054754-A-C |
c.806A>C |
p.K269T |
Missense |
7/25 |
- |
1 |
9-5054754-A-G |
c.806A>G |
p.K269R |
Missense |
7/25 |
- |
1 |
9-5054755-A-C |
c.807A>C |
p.K269N |
Missense |
7/25 |
- |
1 |
9-5054755-A-G |
c.807A>G |
p.K269= |
Synonymous |
7/25 |
- |
1 |
9-5054755-A-T |
c.807A>T |
p.K269N |
Missense |
7/25 |
- |
1 |
9-5054756-T-G |
c.808T>G |
p.F270V |
Missense |
7/25 |
- |
1 |
9-5054759-G-A |
c.811G>A |
p.E271K |
Missense |
7/25 |
- |
1 |
9-5054759-G-C |
c.811G>C |
p.E271Q |
Missense |
7/25 |
- |
4 |
9-5054760-A-G |
c.812A>G |
p.E271G |
Missense |
7/25 |
- |
2 |
9-5054759-GA-G |
c.813del |
p.V272* |
Frameshift |
7/25 |
- |
1 |
9-5054762-G-A |
c.814G>A |
p.V272I |
Missense |
7/25 |
- |
2 |
9-5054762-GTA-ATG |
c.814_816delinsATG |
p.V272M |
Missense |
7/25 |
- |
3 |
9-5054763-T-G |
c.815T>G |
p.V272G |
Missense |
7/25 |
- |
2 |
9-5054764-A-C |
c.816A>C |
p.V272= |
Synonymous |
7/25 |
- |
1 |
9-5054764-A-G |
c.816A>G |
p.V272= |
Synonymous |
7/25 |
- |
1 |
9-5054764-A-T |
c.816A>T |
p.V272= |
Synonymous |
7/25 |
- |
1 |
9-5054765-AA-GC |
c.817_818delinsGC |
p.K273A |
Missense |
7/25 |
- |
1 |
9-5054766-A-C |
c.818A>C |
p.K273T |
Missense |
7/25 |
- |
1 |
9-5054766-A-G |
c.818A>G |
p.K273R |
Missense |
7/25 |
- |
1 |
9-5054768-G-A |
c.820G>A |
p.E274K |
Missense |
7/25 |
- |
2 |
9-5054768-G-C |
c.820G>C |
p.E274Q |
Missense |
7/25 |
- |
1 |
9-5054768-G-T |
c.820G>T |
p.E274* |
Nonsense |
7/25 |
- |
6 |
9-5054769-A-C |
c.821A>C |
p.E274A |
Missense |
7/25 |
- |
1 |
9-5054769-A-T |
c.821A>T |
p.E274V |
Missense |
7/25 |
- |
1 |
9-5054770-A-C |
c.822A>C |
p.E274D |
Missense |
7/25 |
- |
1 |
9-5054770-A-G |
c.822A>G |
p.E274= |
Synonymous |
7/25 |
- |
1 |
9-5054770-A-T |
c.822A>T |
p.E274D |
Missense |
7/25 |
- |
1 |
9-5054771-C-A |
c.823C>A |
p.P275T |
Missense |
7/25 |
- |
1 |
9-5054771-C-T |
c.823C>T |
p.P275S |
Missense |
7/25 |
- |
5 |
9-5054772-C-A |
c.824C>A |
p.P275H |
Missense |
7/25 |
- |
1 |
9-5054772-C-T |
c.824C>T |
p.P275L |
Missense |
7/25 |
- |
1 |
9-5054775-G-A |
c.827G>A |
p.G276E |
Missense |
7/25 |
- |
1 |
9-5054775-G-C |
c.827G>C |
p.G276A |
Missense |
7/25 |
- |
6 |
9-5054775-G-T |
c.827G>T |
p.G276V |
Missense |
7/25 |
- |
3 |
9-5054776-A-G |
c.828A>G |
p.G276= |
Synonymous |
7/25 |
- |
1 |
9-5054778-G-A |
c.830G>A |
p.S277N |
Missense |
7/25 |
- |
2 |
9-5054778-G-C |
c.830G>C |
p.S277T |
Missense |
7/25 |
- |
1 |
9-5054778-G-T |
c.830G>T |
p.S277I |
Missense |
7/25 |
- |
1 |
9-5054777-A-C |
c.829A>C |
p.S277R |
Missense |
7/25 |
- |
2 |
9-5054779-T-A |
c.831T>A |
p.S277R |
Missense |
7/25 |
- |
4 |
9-5054779-T-G |
c.831T>G |
p.S277R |
Missense |
7/25 |
- |
3 |
9-5054779-TG-T |
c.833del |
p.G278Vfs*12 |
Frameshift |
7/25 |
- |
1 |
9-5054781-G-A |
c.833G>A |
p.G278D |
Missense |
7/25 |
- |
1 |
9-5054781-GT-AG |
c.833_834delinsAG |
p.G278E |
Missense |
7/25 |
- |
1 |
9-5054782-T-A |
c.834T>A |
p.G278= |
Synonymous |
7/25 |
- |
1 |
9-5054782-T-C |
c.834T>C |
p.G278= |
Synonymous |
7/25 |
- |
1 |
9-5054782-T-G |
c.834T>G |
p.G278= |
Synonymous |
7/25 |
- |
1 |
9-5054783-C-A |
c.835C>A |
p.P279T |
Missense |
7/25 |
- |
1 |
9-5054782-TC-T |
c.836del |
p.P279Lfs*11 |
Frameshift |
7/25 |
- |
1 |
9-5054784-C-A |
c.836C>A |
p.P279H |
Missense |
7/25 |
- |
1 |
9-5054784-C-T |
c.836C>T |
p.P279L |
Missense |
7/25 |
- |
6 |
9-5054786-T-G |
c.838T>G |
p.S280A |
Missense |
7/25 |
- |
1 |
9-5054787-CA-TT |
c.839_840delinsTT |
p.S280F |
Missense |
7/25 |
- |
1 |
9-5054787-C-G |
c.839C>G |
p.S280* |
Nonsense |
7/25 |
- |
1 |
9-5054787-C-T |
c.839C>T |
p.S280L |
Missense |
7/25 |
- |
4 |
9-5054787-C-CA |
c.840dup |
p.G281Rfs*2 |
Frameshift |
7/25 |
- |
1 |
9-5054788-A-C |
c.840A>C |
p.S280= |
Synonymous |
7/25 |
- |
2 |
9-5054788-A-G |
c.840A>G |
p.S280= |
Synonymous |
7/25 |
- |
3 |
9-5054788-A-T |
c.840A>T |
p.S280= |
Synonymous |
7/25 |
- |
2 |
9-5054789-G-A |
c.841G>A |
p.G281S |
Missense |
7/25 |
- |
1 |
9-5054789-GG-AA |
c.841_842delinsAA |
p.G281N |
Missense |
7/25 |
- |
1 |
9-5054790-G-A |
c.842G>A |
p.G281D |
Missense |
7/25 |
- |
2 |
9-5054791-GT-G |
c.843del |
p.E282Rfs*8 |
Frameshift |
7/25 |
- |
1 |
9-5054792-G-A |
c.844G>A |
p.E282K |
Missense |
7/25 |
- |
1 |
9-5054792-G-C |
c.844G>C |
p.E282Q |
Missense |
7/25 |
- |
1 |
9-5054795-G-A |
c.847G>A |
p.E283K |
Missense |
7/25 |
- |
1 |
9-5054797-G-A |
c.849G>A |
p.E283= |
Synonymous |
7/25 |
- |
1 |
9-5054798-A-T |
c.850A>T |
p.I284F |
Missense |
7/25 |
- |
1 |
9-5054800-T-G |
c.852T>G |
p.I284M |
Missense |
7/25 |
- |
1 |
9-5054801-T-C |
c.853T>C |
p.F285L |
Missense |
7/25 |
- |
1 |
9-5054803-T-A |
c.855T>A |
p.F285L |
Missense |
7/25 |
- |
1 |
9-5054803-T-G |
c.855T>G |
p.F285L |
Missense |
7/25 |
- |
1 |
9-5054802-T-C |
c.854T>C |
p.F285S |
Missense |
7/25 |
- |
1 |
9-5054804-G-A |
c.856G>A |
p.A286T |
Missense |
7/25 |
- |
2 |
9-5054804-G-T |
c.856G>T |
p.A286S |
Missense |
7/25 |
- |
1 |
9-5054804-TGCA-T |
c.856_858del |
p.A286del |
InFrameDeletion |
7/25 |
- |
1 |
9-5054805-C-T |
c.857C>T |
p.A286V |
Missense |
7/25 |
- |
1 |
9-5054807-AC-GA |
c.859_860delinsGA |
p.T287D |
Missense |
7/25 |
- |
1 |
9-5054808-C-G |
c.860C>G |
p.T287S |
Missense |
7/25 |
- |
1 |
9-5054811-T-C |
c.863T>C |
p.I288T |
Missense |
7/25 |
- |
1 |
9-5054813-ATA-TTT |
c.865_867delinsTTT |
p.I289F |
Missense |
7/25 |
- |
1 |
9-5054811-TTA-T |
c.866_867del |
p.I289Nfs*15 |
Frameshift |
7/25 |
- |
1 |
9-5054814-T-A |
c.866T>A |
p.I289K |
Missense |
7/25 |
- |
2 |
9-5054819-A-T |
c.871A>T |
p.T291S |
Missense |
7/25 |
- |
2 |
9-5054820-C-G |
c.872C>G |
p.T291S |
Missense |
7/25 |
- |
2 |
9-5054820-C-T |
c.872C>T |
p.T291I |
Missense |
7/25 |
- |
1 |
9-5054820-CT-TG |
c.872_873delinsTG |
p.T291M |
Missense |
7/25 |
- |
1 |
9-5054822-G-A |
c.874G>A |
p.G292R |
Missense |
7/25 |
- |
1 |
9-5054822-G-C |
c.874G>C |
p.G292R |
Missense |
7/25 |
- |
1 |
9-5054822-GG-AA |
c.874_875delinsAA |
p.G292K |
Missense |
7/25 |
- |
1 |
9-5054823-G-A |
c.875G>A |
p.G292E |
Missense |
7/25 |
- |
2 |
9-5054823-GA-AC |
c.875_876delinsAC |
p.G292D |
Missense |
7/25 |
- |
1 |
9-5054824-A-T |
c.876A>T |
p.G292= |
Synonymous |
7/25 |
- |
1 |
9-5054828-G-A |
c.880G>A |
p.G294S |
Missense |
7/25 |
- |
2 |
9-5054828-G-C |
c.880G>C |
p.G294R |
Missense |
7/25 |
- |
1 |
9-5054829-G-A |
c.881G>A |
p.G294D |
Missense |
7/25 |
- |
1 |
9-5054829-G-T |
c.881G>T |
p.G294V |
Missense |
7/25 |
- |
1 |
9-5054831-G-A |
c.883G>A |
p.G295R |
Missense |
7/25 |
- |
1 |
9-5054831-G-T |
c.883G>T |
p.G295* |
Nonsense |
7/25 |
- |
2 |
9-5054832-G-A |
c.884G>A |
p.G295E |
Missense |
7/25 |
- |
4 |
9-5054836-TC-AA |
c.888_889delinsAA |
p.Q297K |
Missense |
7/25 |
- |
1 |
9-5054840-T-C |
c.892T>C |
p.W298R |
Missense |
7/25 |
- |
1 |
9-5054841-G-A |
c.893G>A |
p.W298* |
Nonsense |
7/25 |
- |
1 |
9-5054842-G-A |
c.894G>A |
p.W298* |
Nonsense |
7/25 |
- |
1 |
9-5054842-G-C |
c.894G>C |
p.W298C |
Missense |
7/25 |
- |
1 |
9-5054842-G-T |
c.894G>T |
p.W298C |
Missense |
7/25 |
- |
1 |
9-5054843-T-C |
c.895T>C |
p.S299P |
Missense |
7/25 |
- |
1 |
9-5054844-C-A |
c.896C>A |
p.S299* |
Nonsense |
7/25 |
- |
2 |
9-5054844-CA-TT |
c.896_897delinsTT |
p.S299F |
Missense |
7/25 |
- |
1 |
9-5054844-C-G |
c.896C>G |
p.S299* |
Nonsense |
7/25 |
- |
1 |
9-5054844-C-T |
c.896C>T |
p.S299L |
Missense |
7/25 |
- |
1 |
9-5054844-CA-C |
c.898del |
p.R300Efs*10 |
Frameshift |
7/25 |
- |
1 |
9-5054846-A-G |
c.898A>G |
p.R300G |
Missense |
7/25 |
- |
1 |
9-5054846-AGA-CAT |
c.898_900delinsCAT |
p.R300H |
Missense |
7/25 |
- |
1 |
9-5054846-AGA-TGT |
c.898_900delinsTGT |
p.R300C |
Missense |
7/25 |
- |
1 |
9-5054846-AG-CA |
c.898_899delinsCA |
p.R300Q |
Missense |
7/25 |
- |
1 |
9-5054847-G-A |
c.899G>A |
p.R300K |
Missense |
7/25 |
- |
3 |
9-5054847-G-C |
c.899G>C |
p.R300T |
Missense |
7/25 |
- |
1 |
9-5054848-A-C |
c.900A>C |
p.R300S |
Missense |
7/25 |
- |
1 |
9-5054848-A-T |
c.900A>T |
p.R300S |
Missense |
7/25 |
- |
2 |
9-5054852-A-G |
c.904A>G |
p.K302E |
Missense |
7/25 |
- |
2 |
9-5054856-A-T |
c.908A>T |
p.H303L |
Missense |
7/25 |
- |
1 |
9-5054859-A-C |
c.911A>C |
p.K304T |
Missense |
7/25 |
- |
3 |
9-5054860-A-C |
c.912A>C |
p.K304N |
Missense |
7/25 |
- |
1 |
9-5054860-A-G |
c.912A>G |
p.K304= |
Synonymous |
7/25 |
- |
1 |
9-5054860-A-T |
c.912A>T |
p.K304N |
Missense |
7/25 |
- |
1 |
9-5054861-G-A |
c.913G>A |
p.E305K |
Missense |
7/25 |
- |
1 |
9-5054861-G-C |
c.913G>C |
p.E305Q |
Missense |
7/25 |
- |
1 |
9-5054863-A-G |
c.915A>G |
p.E305= |
Synonymous |
7/25 |
- |
1 |
9-5054866-T-C |
c.918T>C |
p.S306= |
Synonymous |
7/25 |
- |
3 |
9-5054867-G-A |
c.919G>A |
p.E307K |
Missense |
7/25 |
- |
2 |
9-5054869-G-C |
c.921G>C |
p.E307D |
Missense |
7/25 |
- |
1 |
9-5054870-A-C |
c.922A>C |
p.T308P |
Missense |
7/25 |
- |
2 |
9-5054870-ACA-CAT |
c.922_924delinsCAT |
p.T308H |
Missense |
7/25 |
- |
1 |
9-5054870-A-G |
c.922A>G |
p.T308A |
Missense |
7/25 |
- |
1 |
9-5054871-CA-TG |
c.923_924inv |
p.T308M |
Missense |
7/25 |
- |
1 |
9-5054873-CTG-ATC |
c.925_927delinsATC |
p.L309I |
Missense |
7/25 |
- |
1 |
9-5054874-T-G |
c.926T>G |
p.L309R |
Missense |
7/25 |
- |
1 |
9-5054876-A-G |
c.928A>G |
p.T310A |
Missense |
7/25 |
- |
1 |
9-5054877-C-T |
c.929C>T |
p.T310I |
Missense |
7/25 |
- |
2 |
9-5054879-G-A |
c.931G>A |
p.E311K |
Missense |
7/25 |
- |
2 |
9-5054879-G-T |
c.931G>T |
p.E311* |
Nonsense |
7/25 |
- |
1 |
9-5054882-C-T |
c.934C>T |
p.Q312* |
Nonsense |
7/25 |
- |
2 |
9-5054884-G-C |
c.936G>C |
p.Q312H |
Missense |
7/25 |
- |
1 |
9-5054884-G-T |
c.936G>T |
p.Q312H |
Missense |
7/25 |
- |
1 |
9-5054885-G-A |
c.936+1G>A |
- |
IntronicSNV |
- |
7/24 |
1 |
9-5054886-T-C |
c.936+2T>C |
- |
IntronicSNV |
- |
7/24 |
1 |
9-5054886-T-G |
c.936+2T>G |
- |
IntronicSNV |
- |
7/24 |
1 |
9-5054901-AT-A |
c.936+17del |
- |
IntronicDeletion |
- |
7/24 |
1 |
9-5054915-GT-G |
c.936+33del |
- |
IntronicDeletion |
- |
7/24 |
1 |
9-5055015-C-T |
c.936+131C>T |
- |
IntronicSNV |
- |
7/24 |
6 |
9-5055434-C-T |
c.937-235C>T |
- |
IntronicSNV |
- |
7/24 |
5 |
9-5055669-G-A |
c.937G>A |
p.D313N |
Missense |
8/25 |
- |
1 |
9-5055669-G-C |
c.937G>C |
p.D313H |
Missense |
8/25 |
- |
2 |
9-5055670-A-C |
c.938A>C |
p.D313A |
Missense |
8/25 |
- |
1 |
9-5055672-T-A |
c.940T>A |
p.L314I |
Missense |
8/25 |
- |
1 |
9-5055672-T-C |
c.940T>C |
p.L314= |
Synonymous |
8/25 |
- |
1 |
9-5055674-A-G |
c.942A>G |
p.L314= |
Synonymous |
8/25 |
- |
1 |
9-5055676-A-T |
c.944A>T |
p.Q315L |
Missense |
8/25 |
- |
1 |
9-5055678-T-G |
c.946T>G |
p.L316V |
Missense |
8/25 |
- |
1 |
9-5055678-TTA-ATG |
c.946_948delinsATG |
p.L316M |
Missense |
8/25 |
- |
1 |
9-5055678-TT-CC |
c.946_947delinsCC |
p.L316P |
Missense |
8/25 |
- |
1 |
9-5055679-T-A |
c.947T>A |
p.L316* |
Nonsense |
8/25 |
- |
1 |
9-5055679-T-G |
c.947T>G |
p.L316* |
Nonsense |
8/25 |
- |
1 |
9-5055680-A-C |
c.948A>C |
p.L316F |
Missense |
8/25 |
- |
1 |
9-5055680-A-T |
c.948A>T |
p.L316F |
Missense |
8/25 |
- |
1 |
9-5055681-T-C |
c.949T>C |
p.Y317H |
Missense |
8/25 |
- |
4 |
9-5055684-T-C |
c.952T>C |
p.C318R |
Missense |
8/25 |
- |
1 |
9-5055686-C-A |
c.954C>A |
p.C318* |
Nonsense |
8/25 |
- |
1 |
9-5055686-C-T |
c.954C>T |
p.C318= |
Synonymous |
8/25 |
- |
3 |
9-5055687-G-A |
c.955G>A |
p.D319N |
Missense |
8/25 |
- |
13 |
9-5055688-A-G |
c.956A>G |
p.D319G |
Missense |
8/25 |
- |
1 |
9-5055694-C-T |
c.962C>T |
p.P321L |
Missense |
8/25 |
- |
2 |
9-5055696-A-C |
c.964A>C |
p.N322H |
Missense |
8/25 |
- |
1 |
9-5055696-A-G |
c.964A>G |
p.N322D |
Missense |
8/25 |
- |
1 |
9-5055699-A-G |
c.967A>G |
p.I323V |
Missense |
8/25 |
- |
1 |
9-5055700-T-C |
c.968T>C |
p.I323T |
Missense |
8/25 |
- |
1 |
9-5055701-T-G |
c.969T>G |
p.I323M |
Missense |
8/25 |
- |
1 |
9-5055703-T-C |
c.971T>C |
p.I324T |
Missense |
8/25 |
- |
1 |
9-5055703-T-G |
c.971T>G |
p.I324S |
Missense |
8/25 |
- |
1 |
9-5055705-GAT-AAG |
c.973_975delinsAAG |
p.D325K |
Missense |
8/25 |
- |
1 |
9-5055705-G-C |
c.973G>C |
p.D325H |
Missense |
8/25 |
- |
1 |
9-5055705-G-T |
c.973G>T |
p.D325Y |
Missense |
8/25 |
- |
2 |
9-5055706-A-G |
c.974A>G |
p.D325G |
Missense |
8/25 |
- |
1 |
9-5055708-G-A |
c.976G>A |
p.V326I |
Missense |
8/25 |
- |
1 |
9-5055709-T-C |
c.977T>C |
p.V326A |
Missense |
8/25 |
- |
1 |
9-5055711-AG-TT |
c.979_980delinsTT |
p.S327F |
Missense |
8/25 |
- |
1 |
9-5055712-G-A |
c.980G>A |
p.S327N |
Missense |
8/25 |
- |
2 |
9-5055712-G-C |
c.980G>C |
p.S327T |
Missense |
8/25 |
- |
2 |
9-5055714-A-G |
c.982A>G |
p.I328V |
Missense |
8/25 |
- |
2 |
9-5055717-AAG-CAT |
c.985_987delinsCAT |
p.K329H |
Missense |
8/25 |
- |
1 |
9-5055720-C-T |
c.988C>T |
p.Q330* |
Nonsense |
8/25 |
- |
1 |
9-5055721-A-G |
c.989A>G |
p.Q330R |
Missense |
8/25 |
- |
1 |
9-5055723-G-A |
c.991G>A |
p.A331T |
Missense |
8/25 |
- |
3 |
9-5055724-C-T |
c.992C>T |
p.A331V |
Missense |
8/25 |
- |
1 |
9-5055727-A-G |
c.995A>G |
p.N332S |
Missense |
8/25 |
- |
3 |
9-5055729-C-G |
c.997C>G |
p.Q333E |
Missense |
8/25 |
- |
2 |
9-5055729-C-T |
c.997C>T |
p.Q333* |
Nonsense |
8/25 |
- |
1 |
9-5055730-A-G |
c.998A>G |
p.Q333R |
Missense |
8/25 |
- |
1 |
9-5055731-A-AT |
c.999_1000insT |
p.E334* |
Nonsense |
8/25 |
- |
1 |
9-5055732-G-T |
c.1000G>T |
p.E334* |
Nonsense |
8/25 |
- |
1 |
9-5055733-A-G |
c.1001A>G |
p.E334G |
Missense |
8/25 |
- |
1 |
9-5055734-G-C |
c.1002G>C |
p.E334D |
Missense |
8/25 |
- |
1 |
9-5055734-G-T |
c.1002G>T |
p.E334D |
Missense |
8/25 |
- |
1 |
9-5055735-G-A |
c.1003G>A |
p.G335S |
Missense |
8/25 |
- |
3 |
9-5055736-G-A |
c.1004G>A |
p.G335D |
Missense |
8/25 |
- |
4 |
9-5055736-G-T |
c.1004G>T |
p.G335V |
Missense |
8/25 |
- |
1 |
9-5055739-C-A |
c.1007C>A |
p.S336* |
Nonsense |
8/25 |
- |
2 |
9-5055739-C-G |
c.1007C>G |
p.S336* |
Nonsense |
8/25 |
- |
3 |
9-5055741-A-C |
c.1009A>C |
p.N337H |
Missense |
8/25 |
- |
1 |
9-5055741-A-G |
c.1009A>G |
p.N337D |
Missense |
8/25 |
- |
6 |
9-5055741-A-T |
c.1009A>T |
p.N337Y |
Missense |
8/25 |
- |
2 |
9-5055739-C-CA |
c.1010dup |
p.N337Kfs*2 |
Frameshift |
8/25 |
- |
1 |
9-5055742-A-AT |
c.1011dup |
p.E338* |
Nonsense |
8/25 |
- |
3 |
9-5055743-T-G |
c.1011T>G |
p.N337K |
Missense |
8/25 |
- |
1 |
9-5055744-G-A |
c.1012G>A |
p.E338K |
Missense |
8/25 |
- |
1 |
9-5055745-A-T |
c.1013A>T |
p.E338V |
Missense |
8/25 |
- |
1 |
9-5055744-GA-G |
c.1015del |
p.S339Afs*4 |
Frameshift |
8/25 |
- |
5 |
9-5055747-AG-TT |
c.1015_1016delinsTT |
p.S339F |
Missense |
8/25 |
- |
1 |
9-5055747-A-T |
c.1015A>T |
p.S339C |
Missense |
8/25 |
- |
1 |
9-5055748-G-C |
c.1016G>C |
p.S339T |
Missense |
8/25 |
- |
1 |
9-5055748-G-T |
c.1016G>T |
p.S339I |
Missense |
8/25 |
- |
1 |
9-5055748-G-GC |
c.1018dup |
p.R340Pfs*7 |
Frameshift |
8/25 |
- |
1 |
9-5055750-CGA-TGG |
c.1018_1020delinsTGG |
p.R340W |
Missense |
8/25 |
- |
2 |
9-5055750-C-T |
c.1018C>T |
p.R340* |
Nonsense |
8/25 |
- |
4 |
9-5055751-CG-C |
c.1019del |
p.R340Qfs*3 |
Frameshift |
8/25 |
- |
1 |
9-5055751-G-A |
c.1019G>A |
p.R340Q |
Missense |
8/25 |
- |
2 |
9-5055753-G-A |
c.1021G>A |
p.V341I |
Missense |
8/25 |
- |
1 |
9-5055753-GTT-ATG |
c.1021_1023delinsATG |
p.V341M |
Missense |
8/25 |
- |
1 |
9-5055754-GTT-G |
c.1022_1023del |
p.V341Gfs*5 |
Frameshift |
8/25 |
- |
1 |
9-5055754-T-G |
c.1022T>G |
p.V341G |
Missense |
8/25 |
- |
1 |
9-5055756-G-A |
c.1024G>A |
p.V342I |
Missense |
8/25 |
- |
1 |
9-5055756-G-C |
c.1024G>C |
p.V342L |
Missense |
8/25 |
- |
1 |
9-5055757-T-C |
c.1025T>C |
p.V342A |
Missense |
8/25 |
- |
1 |
9-5055758-A-G |
c.1026A>G |
p.V342= |
Synonymous |
8/25 |
- |
1 |
9-5055759-A-G |
c.1027A>G |
p.T343A |
Missense |
8/25 |
- |
1 |
9-5055760-C-T |
c.1028C>T |
p.T343I |
Missense |
8/25 |
- |
1 |
9-5055765-C-A |
c.1033C>A |
p.H345N |
Missense |
8/25 |
- |
1 |
9-5055769-A-G |
c.1037A>G |
p.K346R |
Missense |
8/25 |
- |
3 |
9-5055774-G-T |
c.1042G>T |
p.D348Y |
Missense |
8/25 |
- |
1 |
9-5055778-G-C |
c.1046G>C |
p.G349A |
Missense |
8/25 |
- |
1 |
9-5055778-G-T |
c.1046G>T |
p.G349V |
Missense |
8/25 |
- |
1 |
9-5055784-A-T |
c.1052A>T |
p.N351I |
Missense |
8/25 |
- |
1 |
9-5055786-C-A |
c.1054C>A |
p.L352M |
Missense |
8/25 |
- |
3 |
9-5055786-CTG-ATC |
c.1054_1056delinsATC |
p.L352I |
Missense |
8/25 |
- |
1 |
9-5055787-T-G |
c.1055T>G |
p.L352R |
Missense |
8/25 |
- |
1 |
9-5055788-G-T |
c.1056G>T |
p.L352= |
Synonymous |
8/25 |
- |
1 |
9-5055790-T-C |
c.1056+2T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5055937-G-A |
c.1056+149G>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5056037-A-G |
c.1056+249A>G |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5056196-T-C |
c.1056+408T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5056282-T-A |
c.1056+494T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5056482-G-A |
c.1056+694G>A |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5056482-G-T |
c.1056+694G>T |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5056817-T-A |
c.1056+1029T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5056931-C-A |
c.1056+1143C>A |
- |
IntronicSNV |
- |
8/24 |
5 |
9-5057284-T-A |
c.1056+1496T>A |
- |
IntronicSNV |
- |
8/24 |
5 |
9-5057568-G-C |
c.1056+1780G>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5057568-G-T |
c.1056+1780G>T |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5058048-A-G |
c.1056+2260A>G |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5058991-A-C |
c.1056+3203A>C |
- |
IntronicSNV |
- |
8/24 |
3 |
9-5058991-A-T |
c.1056+3203A>T |
- |
IntronicSNV |
- |
8/24 |
3 |
9-5059190-C-T |
c.1056+3402C>T |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5059440-C-T |
c.1056+3652C>T |
- |
IntronicSNV |
- |
8/24 |
6 |
9-5059543-T-C |
c.1056+3755T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5059593-T-C |
c.1056+3805T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5059767-T-A |
c.1056+3979T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5060334-G-A |
c.1056+4546G>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5060334-G-T |
c.1056+4546G>T |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5061405-A-C |
c.1057-3478A>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5061405-A-G |
c.1057-3478A>G |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5061578-G-A |
c.1057-3305G>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062056-G-A |
c.1057-2827G>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062473-T-A |
c.1057-2410T>A |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5062473-T-C |
c.1057-2410T>C |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5062553-T-A |
c.1057-2330T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062610-T-C |
c.1057-2273T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062816-C-A |
c.1057-2067C>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062816-C-T |
c.1057-2067C>T |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062826-G-A |
c.1057-2057G>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062837-T-A |
c.1057-2046T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062837-T-C |
c.1057-2046T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062844-A-T |
c.1057-2039A>T |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062932-C-G |
c.1057-1951C>G |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5062932-C-T |
c.1057-1951C>T |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063199-G-A |
c.1057-1684G>A |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5063199-G-T |
c.1057-1684G>T |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5063296-G-T |
c.1057-1587G>T |
- |
IntronicSNV |
- |
8/24 |
6 |
9-5063664-T-A |
c.1057-1219T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063664-T-C |
c.1057-1219T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063690-T-A |
c.1057-1193T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063690-T-C |
c.1057-1193T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063701-T-A |
c.1057-1182T>A |
- |
IntronicSNV |
- |
8/24 |
4 |
9-5063701-T-C |
c.1057-1182T>C |
- |
IntronicSNV |
- |
8/24 |
4 |
9-5063884-A-G |
c.1057-999A>G |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063885-T-C |
c.1057-998T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063885-T-G |
c.1057-998T>G |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063994-A-G |
c.1057-889A>G |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5064193-T-C |
c.1057-690T>C |
- |
IntronicSNV |
- |
8/24 |
3 |
9-5064548-G-A |
c.1057-335G>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5064883-G-A |
c.1057G>A |
p.E353K |
Missense |
9/25 |
- |
1 |
9-5064885-A-C |
c.1059A>C |
p.E353D |
Missense |
9/25 |
- |
1 |
9-5064885-A-T |
c.1059A>T |
p.E353D |
Missense |
9/25 |
- |
1 |
9-5064886-A-G |
c.1060A>G |
p.I354V |
Missense |
9/25 |
- |
2 |
9-5064887-T-C |
c.1061T>C |
p.I354T |
Missense |
9/25 |
- |
1 |
9-5064888-T-A |
c.1062T>A |
p.I354= |
Synonymous |
9/25 |
- |
1 |
9-5064888-T-C |
c.1062T>C |
p.I354= |
Synonymous |
9/25 |
- |
1 |
9-5064889-G-A |
c.1063G>A |
p.E355K |
Missense |
9/25 |
- |
1 |
9-5064890-A-C |
c.1064A>C |
p.E355A |
Missense |
9/25 |
- |
2 |
9-5064890-A-G |
c.1064A>G |
p.E355G |
Missense |
9/25 |
- |
4 |
9-5064891-A-T |
c.1065A>T |
p.E355D |
Missense |
9/25 |
- |
1 |
9-5064893-T-C |
c.1067T>C |
p.L356P |
Missense |
9/25 |
- |
1 |
9-5064893-T-G |
c.1067T>G |
p.L356R |
Missense |
9/25 |
- |
1 |
9-5064898-TCA-AAC |
c.1072_1074delinsAAC |
p.S358N |
Missense |
9/25 |
- |
1 |
9-5064899-C-A |
c.1073C>A |
p.S358* |
Nonsense |
9/25 |
- |
4 |
9-5064899-CA-GT |
c.1073_1074delinsGT |
p.S358C |
Missense |
9/25 |
- |
1 |
9-5064899-C-G |
c.1073C>G |
p.S358* |
Nonsense |
9/25 |
- |
3 |
9-5064901-T-C |
c.1075T>C |
p.L359= |
Synonymous |
9/25 |
- |
2 |
9-5064901-T-G |
c.1075T>G |
p.L359V |
Missense |
9/25 |
- |
3 |
9-5064903-A-G |
c.1077A>G |
p.L359= |
Synonymous |
9/25 |
- |
2 |
9-5064904-AG-CT |
c.1078_1079inv |
p.R360L |
Missense |
9/25 |
- |
1 |
9-5064904-AG-TA |
c.1078_1079delinsTA |
p.R360* |
Nonsense |
9/25 |
- |
1 |
9-5064905-G-T |
c.1079G>T |
p.R360M |
Missense |
9/25 |
- |
1 |
9-5064906-G-A |
c.1080G>A |
p.R360= |
Synonymous |
9/25 |
- |
1 |
9-5064906-G-C |
c.1080G>C |
p.R360S |
Missense |
9/25 |
- |
1 |
9-5064907-G-C |
c.1081G>C |
p.E361Q |
Missense |
9/25 |
- |
1 |
9-5064909-A-C |
c.1083A>C |
p.E361D |
Missense |
9/25 |
- |
1 |
9-5064909-A-T |
c.1083A>T |
p.E361D |
Missense |
9/25 |
- |
1 |
9-5064910-G-A |
c.1084G>A |
p.A362T |
Missense |
9/25 |
- |
1 |
9-5064914-T-TG |
c.1089dup |
p.S364Vfs*7 |
Frameshift |
9/25 |
- |
2 |
9-5064915-G-C |
c.1089G>C |
p.L363F |
Missense |
9/25 |
- |
2 |
9-5064915-G-T |
c.1089G>T |
p.L363F |
Missense |
9/25 |
- |
2 |
9-5064916-T-C |
c.1090T>C |
p.S364P |
Missense |
9/25 |
- |
2 |
9-5064917-C-G |
c.1091C>G |
p.S364C |
Missense |
9/25 |
- |
3 |
9-5064917-CTTTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCAT-C |
c.1093_1144del |
p.F365Tfs*6 |
Frameshift |
9/25 |
- |
5 |
9-5064919-T-C |
c.1093T>C |
p.F365L |
Missense |
9/25 |
- |
1 |
9-5064921-C-A |
c.1095C>A |
p.F365L |
Missense |
9/25 |
- |
1 |
9-5064921-C-G |
c.1095C>G |
p.F365L |
Missense |
9/25 |
- |
2 |
9-5064921-C-T |
c.1095C>T |
p.F365= |
Synonymous |
9/25 |
- |
8 |
9-5064919-TTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACA-T |
c.1096_1141del |
p.V366Ifs*7 |
Frameshift |
9/25 |
- |
2 |
9-5064922-G-A |
c.1096G>A |
p.V366M |
Missense |
9/25 |
- |
9 |
9-5064922-G-C |
c.1096G>C |
p.V366L |
Missense |
9/25 |
- |
2 |
9-5064922-G-T |
c.1096G>T |
p.V366L |
Missense |
9/25 |
- |
3 |
9-5064923-T-G |
c.1097T>G |
p.V366G |
Missense |
9/25 |
- |
3 |
9-5064925-GTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCATTACCTCT-G |
c.1099_1150del |
p.S367Vfs*4 |
Frameshift |
9/25 |
- |
1 |
9-5064925-T-C |
c.1099T>C |
p.S367P |
Missense |
9/25 |
- |
1 |
9-5064925-TC-AT |
c.1099_1100delinsAT |
p.S367I |
Missense |
9/25 |
- |
1 |
9-5064925-T-G |
c.1099T>G |
p.S367A |
Missense |
9/25 |
- |
1 |
9-5064926-C-A |
c.1100C>A |
p.S367* |
Nonsense |
9/25 |
- |
1 |
9-5064926-CA-TT |
c.1100_1101delinsTT |
p.S367F |
Missense |
9/25 |
- |
1 |
9-5064926-C-G |
c.1100C>G |
p.S367* |
Nonsense |
9/25 |
- |
2 |
9-5064926-C-T |
c.1100C>T |
p.S367L |
Missense |
9/25 |
- |
3 |
9-5064927-A-G |
c.1101A>G |
p.S367= |
Synonymous |
9/25 |
- |
1 |
9-5064928-ATTAATTGATGGATATTATAGATTAACTGCAGATG-A |
c.1102_1135del |
p.L368Hfs*9 |
Frameshift |
9/25 |
- |
1 |
9-5064928-T-C |
c.1102T>C |
p.L368= |
Synonymous |
9/25 |
- |
1 |
9-5064930-A-G |
c.1104A>G |
p.L368= |
Synonymous |
9/25 |
- |
1 |
9-5064931-A-G |
c.1105A>G |
p.I369V |
Missense |
9/25 |
- |
3 |
9-5064931-A-T |
c.1105A>T |
p.I369F |
Missense |
9/25 |
- |
1 |
9-5064932-T-C |
c.1106T>C |
p.I369T |
Missense |
9/25 |
- |
1 |
9-5064931-AT-A |
c.1107del |
p.I369Mfs*7 |
Frameshift |
9/25 |
- |
1 |
9-5064933-T-A |
c.1107T>A |
p.I369= |
Synonymous |
9/25 |
- |
1 |
9-5064933-T-C |
c.1107T>C |
p.I369= |
Synonymous |
9/25 |
- |
1 |
9-5064934-G-A |
c.1108G>A |
p.D370N |
Missense |
9/25 |
- |
1 |
9-5064934-GAT-ATG |
c.1108_1110delinsATG |
p.D370M |
Missense |
9/25 |
- |
1 |
9-5064934-G-C |
c.1108G>C |
p.D370H |
Missense |
9/25 |
- |
4 |
9-5064934-G-T |
c.1108G>T |
p.D370Y |
Missense |
9/25 |
- |
1 |
9-5064934-TG-T |
c.1108del |
p.D370Mfs*6 |
Frameshift |
9/25 |
- |
1 |
9-5064937-G-A |
c.1111G>A |
p.G371R |
Missense |
9/25 |
- |
1 |
9-5064937-GGA-TGT |
c.1111_1113delinsTGT |
p.G371C |
Missense |
9/25 |
- |
1 |
9-5064936-TG-T |
c.1112del |
p.G371Dfs*5 |
Frameshift |
9/25 |
- |
1 |
9-5064938-G-A |
c.1112G>A |
p.G371E |
Missense |
9/25 |
- |
2 |
9-5064939-A-G |
c.1113A>G |
p.G371= |
Synonymous |
9/25 |
- |
1 |
9-5064940-T-A |
c.1114T>A |
p.Y372N |
Missense |
9/25 |
- |
1 |
9-5064940-T-C |
c.1114T>C |
p.Y372H |
Missense |
9/25 |
- |
1 |
9-5064941-A-G |
c.1115A>G |
p.Y372C |
Missense |
9/25 |
- |
3 |
9-5064941-A-T |
c.1115A>T |
p.Y372F |
Missense |
9/25 |
- |
1 |
9-5064944-A-T |
c.1118A>T |
p.Y373F |
Missense |
9/25 |
- |
2 |
9-5064946-AGA-TGT |
c.1120_1122delinsTGT |
p.R374C |
Missense |
9/25 |
- |
1 |
9-5064946-AG-CT |
c.1120_1121inv |
p.R374L |
Missense |
9/25 |
- |
1 |
9-5064946-AG-GA |
c.1120_1121delinsGA |
p.R374E |
Missense |
9/25 |
- |
1 |
9-5064946-A-T |
c.1120A>T |
p.R374* |
Nonsense |
9/25 |
- |
1 |
9-5064947-G-A |
c.1121G>A |
p.R374K |
Missense |
9/25 |
- |
2 |
9-5064947-G-C |
c.1121G>C |
p.R374T |
Missense |
9/25 |
- |
2 |
9-5064946-A-C |
c.1120A>C |
p.R374= |
Synonymous |
9/25 |
- |
1 |
9-5064948-A-G |
c.1122A>G |
p.R374= |
Synonymous |
9/25 |
- |
1 |
9-5064949-T-C |
c.1123T>C |
p.L375= |
Synonymous |
9/25 |
- |
2 |
9-5064951-A-G |
c.1125A>G |
p.L375= |
Synonymous |
9/25 |
- |
2 |
9-5064951-TAACTGCAGATGCACATCATTACC-T |
c.1125_1147del |
p.L375Ffs*3 |
Frameshift |
9/25 |
- |
1 |
9-5064950-TA-T |
c.1126del |
p.T376Lfs*12 |
Frameshift |
9/25 |
- |
1 |
9-5064952-A-C |
c.1126A>C |
p.T376P |
Missense |
9/25 |
- |
1 |
9-5064952-A-G |
c.1126A>G |
p.T376A |
Missense |
9/25 |
- |
1 |
9-5064953-C-T |
c.1127C>T |
p.T376I |
Missense |
9/25 |
- |
1 |
9-5064955-TGCAGATGCAC-T |
c.1129_1138del |
p.A377Ifs*8 |
Frameshift |
9/25 |
- |
1 |
9-5064956-C-A |
c.1130C>A |
p.A377E |
Missense |
9/25 |
- |
3 |
9-5064956-C-T |
c.1130C>T |
p.A377V |
Missense |
9/25 |
- |
1 |
9-5064958-G-A |
c.1132G>A |
p.D378N |
Missense |
9/25 |
- |
3 |
9-5064958-G-T |
c.1132G>T |
p.D378Y |
Missense |
9/25 |
- |
1 |
9-5064963-A-T |
c.1137A>T |
p.A379= |
Synonymous |
9/25 |
- |
1 |
9-5064964-C-A |
c.1138C>A |
p.H380N |
Missense |
9/25 |
- |
1 |
9-5064965-A-G |
c.1139A>G |
p.H380R |
Missense |
9/25 |
- |
1 |
9-5064967-C-T |
c.1141C>T |
p.H381Y |
Missense |
9/25 |
- |
1 |
9-5064968-A-C |
c.1142A>C |
p.H381P |
Missense |
9/25 |
- |
2 |
9-5064968-A-G |
c.1142A>G |
p.H381R |
Missense |
9/25 |
- |
1 |
9-5064968-AT-A |
c.1144del |
p.Y382Tfs*6 |
Frameshift |
9/25 |
- |
1 |
9-5064970-T-C |
c.1144T>C |
p.Y382H |
Missense |
9/25 |
- |
2 |
9-5064971-A-G |
c.1145A>G |
p.Y382C |
Missense |
9/25 |
- |
1 |
9-5064972-C-A |
c.1146C>A |
p.Y382* |
Nonsense |
9/25 |
- |
1 |
9-5064973-C-G |
c.1147C>G |
p.L383V |
Missense |
9/25 |
- |
1 |
9-5064974-T-C |
c.1148T>C |
p.L383P |
Missense |
9/25 |
- |
4 |
9-5064976-T-C |
c.1150T>C |
p.C384R |
Missense |
9/25 |
- |
2 |
9-5064977-G-A |
c.1151G>A |
p.C384Y |
Missense |
9/25 |
- |
1 |
9-5064980-A-ATTGTC |
c.1154_1155insTTGTC |
p.K385Nfs*5 |
Frameshift |
9/25 |
- |
6 |
9-5064981-A-C |
c.1155A>C |
p.K385N |
Missense |
9/25 |
- |
1 |
9-5064981-A-T |
c.1155A>T |
p.K385N |
Missense |
9/25 |
- |
1 |
9-5064981-A-AG |
c.1156dup |
p.E386Gfs*9 |
Frameshift |
9/25 |
- |
1 |
9-5064982-G-T |
c.1156G>T |
p.E386* |
Nonsense |
9/25 |
- |
2 |
9-5064983-A-G |
c.1157A>G |
p.E386G |
Missense |
9/25 |
- |
1 |
9-5064984-A-C |
c.1158A>C |
p.E386D |
Missense |
9/25 |
- |
1 |
9-5064984-A-G |
c.1158A>G |
p.E386= |
Synonymous |
9/25 |
- |
1 |
9-5064984-A-T |
c.1158A>T |
p.E386D |
Missense |
9/25 |
- |
1 |
9-5064985-G-A |
c.1159G>A |
p.V387I |
Missense |
9/25 |
- |
1 |
9-5064985-G-C |
c.1159G>C |
p.V387L |
Missense |
9/25 |
- |
1 |
9-5064985-G-T |
c.1159G>T |
p.V387L |
Missense |
9/25 |
- |
1 |
9-5064986-T-G |
c.1160T>G |
p.V387G |
Missense |
9/25 |
- |
1 |
9-5064988-G-A |
c.1162G>A |
p.A388T |
Missense |
9/25 |
- |
1 |
9-5064991-C-G |
c.1165C>G |
p.P389A |
Missense |
9/25 |
- |
1 |
9-5064994-C-T |
c.1168C>T |
p.P390S |
Missense |
9/25 |
- |
1 |
9-5064995-C-T |
c.1169C>T |
p.P390L |
Missense |
9/25 |
- |
2 |
9-5064997-G-A |
c.1171G>A |
p.A391T |
Missense |
9/25 |
- |
1 |
9-5064997-G-C |
c.1171G>C |
p.A391P |
Missense |
9/25 |
- |
1 |
9-5064997-G-T |
c.1171G>T |
p.A391S |
Missense |
9/25 |
- |
2 |
9-5064998-CC-AG |
c.1172_1173delinsAG |
p.A391E |
Missense |
9/25 |
- |
2 |
9-5064998-C-T |
c.1172C>T |
p.A391V |
Missense |
9/25 |
- |
1 |
9-5064999-C-A |
c.1173C>A |
p.A391= |
Synonymous |
9/25 |
- |
1 |
9-5064999-C-G |
c.1173C>G |
p.A391= |
Synonymous |
9/25 |
- |
1 |
9-5064999-C-T |
c.1173C>T |
p.A391= |
Synonymous |
9/25 |
- |
2 |
9-5065000-G-A |
c.1174G>A |
p.V392M |
Missense |
9/25 |
- |
15 |
9-5065001-T-C |
c.1175T>C |
p.V392A |
Missense |
9/25 |
- |
1 |
9-5065003-C-A |
c.1177C>A |
p.L393I |
Missense |
9/25 |
- |
1 |
9-5065003-C-G |
c.1177C>G |
p.L393V |
Missense |
9/25 |
- |
24 |
9-5065004-T-C |
c.1178T>C |
p.L393P |
Missense |
9/25 |
- |
1 |
9-5065006-G-A |
c.1180G>A |
p.E394K |
Missense |
9/25 |
- |
2 |
9-5065008-A-C |
c.1182A>C |
p.E394D |
Missense |
9/25 |
- |
1 |
9-5065008-A-G |
c.1182A>G |
p.E394= |
Synonymous |
9/25 |
- |
1 |
9-5065012-A-G |
c.1186A>G |
p.I396V |
Missense |
9/25 |
- |
1 |
9-5065012-AT-GA |
c.1186_1187delinsGA |
p.I396E |
Missense |
9/25 |
- |
1 |
9-5065015-C-G |
c.1189C>G |
p.Q397E |
Missense |
9/25 |
- |
1 |
9-5065017-A-C |
c.1191A>C |
p.Q397H |
Missense |
9/25 |
- |
1 |
9-5065018-A-C |
c.1192A>C |
p.S398R |
Missense |
9/25 |
- |
1 |
9-5065018-AG-GC |
c.1192_1193delinsGC |
p.S398A |
Missense |
9/25 |
- |
1 |
9-5065018-AG-TT |
c.1192_1193delinsTT |
p.S398F |
Missense |
9/25 |
- |
1 |
9-5065019-G-A |
c.1193G>A |
p.S398N |
Missense |
9/25 |
- |
1 |
9-5065019-G-T |
c.1193G>T |
p.S398I |
Missense |
9/25 |
- |
1 |
9-5065024-T-G |
c.1198T>G |
p.C400G |
Missense |
9/25 |
- |
1 |
9-5065024-TG-GC |
c.1198_1199delinsGC |
p.C400A |
Missense |
9/25 |
- |
2 |
9-5065025-G-C |
c.1199G>C |
p.C400S |
Missense |
9/25 |
- |
2 |
9-5065026-T-TGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA |
c.1200_1201insGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA |
p.H401Dfs*7 |
Frameshift |
9/25 |
- |
1 |
9-5064962-C-CACATCATTACCTCTGTAAAGAAGTAGCACCTCCAGCCGTGCTTGAAAATATACAAAGCAACTGTCACG |
c.1202_1203insCGACATCATTACCTCTGTAAAGAAGTAGCACCTCCAGCCGTGCTTGAAAATATACAAAGCAACTGTCA |
p.G402Dfs*9 |
Frameshift |
9/25 |
- |
1 |
9-5065029-T-A |
c.1203T>A |
p.H401Q |
Missense |
9/25 |
- |
1 |
9-5065029-T-G |
c.1203T>G |
p.H401Q |
Missense |
9/25 |
- |
1 |
9-5065030-G-A |
c.1204G>A |
p.G402S |
Missense |
9/25 |
- |
4 |
9-5065030-G-C |
c.1204G>C |
p.G402R |
Missense |
9/25 |
- |
2 |
9-5065031-G-A |
c.1205G>A |
p.G402D |
Missense |
9/25 |
- |
1 |
9-5065034-C-T |
c.1208C>T |
p.P403L |
Missense |
9/25 |
- |
1 |
9-5065035-A-G |
c.1209A>G |
p.P403= |
Synonymous |
9/25 |
- |
1 |
9-5065035-A-T |
c.1209A>T |
p.P403= |
Synonymous |
9/25 |
- |
1 |
9-5065037-T-A |
c.1211T>A |
p.I404N |
Missense |
9/25 |
- |
1 |
9-5065039-T-G |
c.1213T>G |
p.S405A |
Missense |
9/25 |
- |
1 |
9-5065040-C-T |
c.1214C>T |
p.S405L |
Missense |
9/25 |
- |
4 |
9-5065041-G-A |
c.1214+1G>A |
- |
IntronicSNV |
- |
9/24 |
1 |
9-5065041-G-C |
c.1214+1G>C |
- |
IntronicSNV |
- |
9/24 |
3 |
9-5065750-G-C |
c.1214+710G>C |
- |
IntronicSNV |
- |
9/24 |
10 |
9-5066560-A-T |
c.1215-118A>T |
- |
IntronicSNV |
- |
9/24 |
1 |
9-5066617-A-T |
c.1215-61A>T |
- |
IntronicSNV |
- |
9/24 |
1 |
9-5066666-C-T |
c.1215-12C>T |
- |
IntronicSNV |
- |
9/24 |
1 |
9-5066678-G-A |
c.1215G>A |
p.S405= |
Synonymous |
10/25 |
- |
1 |
9-5066678-G-C |
c.1215G>C |
p.S405= |
Synonymous |
10/25 |
- |
1 |
9-5066678-G-T |
c.1215G>T |
p.S405= |
Synonymous |
10/25 |
- |
1 |
9-5066681-G-A |
c.1218G>A |
p.M406I |
Missense |
10/25 |
- |
1 |
9-5066682-G-A |
c.1219G>A |
p.D407N |
Missense |
10/25 |
- |
2 |
9-5066682-GAT-TGG |
c.1219_1221delinsTGG |
p.D407W |
Missense |
10/25 |
- |
1 |
9-5066682-G-C |
c.1219G>C |
p.D407H |
Missense |
10/25 |
- |
2 |
9-5066684-T-A |
c.1221T>A |
p.D407E |
Missense |
10/25 |
- |
1 |
9-5066684-T-G |
c.1221T>G |
p.D407E |
Missense |
10/25 |
- |
1 |
9-5066689-CC-AG |
c.1226_1227delinsAG |
p.A409E |
Missense |
10/25 |
- |
3 |
9-5066689-C-T |
c.1226C>T |
p.A409V |
Missense |
10/25 |
- |
1 |
9-5066691-A-C |
c.1228A>C |
p.I410L |
Missense |
10/25 |
- |
1 |
9-5066695-G-A |
c.1232G>A |
p.S411N |
Missense |
10/25 |
- |
1 |
9-5066699-A-T |
c.1236A>T |
p.K412N |
Missense |
10/25 |
- |
1 |
9-5066700-C-G |
c.1237C>G |
p.L413V |
Missense |
10/25 |
- |
1 |
9-5066701-T-C |
c.1238T>C |
p.L413P |
Missense |
10/25 |
- |
1 |
9-5066702-TGAAGAAAGCAGGTAATCAG-T |
c.1239_1257del |
p.K414Lfs*18 |
Frameshift |
10/25 |
- |
1 |
9-5066703-A-G |
c.1240A>G |
p.K414E |
Missense |
10/25 |
- |
1 |
9-5066705-G-C |
c.1242G>C |
p.K414N |
Missense |
10/25 |
- |
3 |
9-5066705-G-T |
c.1242G>T |
p.K414N |
Missense |
10/25 |
- |
4 |
9-5066706-A-ATTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC |
c.1243_1244insTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC |
p.K415Ifs*31 |
Frameshift |
10/25 |
- |
1 |
9-5066712-G-A |
c.1249G>A |
p.G417S |
Missense |
10/25 |
- |
4 |
9-5066712-G-C |
c.1249G>C |
p.G417R |
Missense |
10/25 |
- |
1 |
9-5066712-GG-CC |
c.1249_1250inv |
p.G417P |
Missense |
10/25 |
- |
1 |
9-5066713-G-A |
c.1250G>A |
p.G417D |
Missense |
10/25 |
- |
1 |
9-5066714-T-A |
c.1251T>A |
p.G417= |
Synonymous |
10/25 |
- |
1 |
9-5066714-T-C |
c.1251T>C |
p.G417= |
Synonymous |
10/25 |
- |
1 |
9-5066714-T-G |
c.1251T>G |
p.G417= |
Synonymous |
10/25 |
- |
1 |
9-5066716-A-G |
c.1253A>G |
p.N418S |
Missense |
10/25 |
- |
1 |
9-5066720-G-C |
c.1257G>C |
p.Q419H |
Missense |
10/25 |
- |
1 |
9-5066720-G-T |
c.1257G>T |
p.Q419H |
Missense |
10/25 |
- |
1 |
9-5066721-A-T |
c.1258A>T |
p.T420S |
Missense |
10/25 |
- |
1 |
9-5066722-C-G |
c.1259C>G |
p.T420S |
Missense |
10/25 |
- |
1 |
9-5066722-C-T |
c.1259C>T |
p.T420I |
Missense |
10/25 |
- |
1 |
9-5066724-GGA-TGT |
c.1261_1263delinsTGT |
p.G421C |
Missense |
10/25 |
- |
1 |
9-5066725-G-T |
c.1262G>T |
p.G421V |
Missense |
10/25 |
- |
1 |
9-5066728-T-C |
c.1265T>C |
p.L422P |
Missense |
10/25 |
- |
1 |
9-5066731-A-G |
c.1268A>G |
p.Y423C |
Missense |
10/25 |
- |
1 |
9-5066734-T-C |
c.1271T>C |
p.V424A |
Missense |
10/25 |
- |
1 |
9-5066736-C-T |
c.1273C>T |
p.L425F |
Missense |
10/25 |
- |
1 |
9-5066738-T-A |
c.1275T>A |
p.L425= |
Synonymous |
10/25 |
- |
1 |
9-5066738-T-C |
c.1275T>C |
p.L425= |
Synonymous |
10/25 |
- |
1 |
9-5066738-T-G |
c.1275T>G |
p.L425= |
Synonymous |
10/25 |
- |
1 |
9-5066739-CGA-AGC |
c.1276_1278delinsAGC |
p.R426S |
Missense |
10/25 |
- |
1 |
9-5066739-CG-GC |
c.1276_1277delinsGC |
p.R426A |
Missense |
10/25 |
- |
1 |
9-5066739-C-T |
c.1276C>T |
p.R426* |
Nonsense |
10/25 |
- |
6 |
9-5066740-G-A |
c.1277G>A |
p.R426Q |
Missense |
10/25 |
- |
5 |
9-5066742-TG-GC |
c.1279_1280delinsGC |
p.C427A |
Missense |
10/25 |
- |
1 |
9-5066743-G-A |
c.1280G>A |
p.C427Y |
Missense |
10/25 |
- |
1 |
9-5066744-C-G |
c.1281C>G |
p.C427W |
Missense |
10/25 |
- |
1 |
9-5066745-AG-TT |
c.1282_1283delinsTT |
p.S428F |
Missense |
10/25 |
- |
2 |
9-5066746-G-A |
c.1283G>A |
p.S428N |
Missense |
10/25 |
- |
2 |
9-5066747-T-C |
c.1284T>C |
p.S428= |
Synonymous |
10/25 |
- |
1 |
9-5066748-CC-TA |
c.1285_1286delinsTA |
p.P429Y |
Missense |
10/25 |
- |
1 |
9-5066750-T-A |
c.1287T>A |
p.P429= |
Synonymous |
10/25 |
- |
4 |
9-5066750-T-C |
c.1287T>C |
p.P429= |
Synonymous |
10/25 |
- |
4 |
9-5066750-T-G |
c.1287T>G |
p.P429= |
Synonymous |
10/25 |
- |
5 |
9-5066751-A-C |
c.1288A>C |
p.K430Q |
Missense |
10/25 |
- |
1 |
9-5066751-A-T |
c.1288A>T |
p.K430* |
Nonsense |
10/25 |
- |
1 |
9-5066752-A-G |
c.1289A>G |
p.K430R |
Missense |
10/25 |
- |
1 |
9-5066753-G-C |
c.1290G>C |
p.K430N |
Missense |
10/25 |
- |
1 |
9-5066753-G-T |
c.1290G>T |
p.K430N |
Missense |
10/25 |
- |
1 |
9-5066754-G-A |
c.1291G>A |
p.D431N |
Missense |
10/25 |
- |
1 |
9-5066755-A-T |
c.1292A>T |
p.D431V |
Missense |
10/25 |
- |
1 |
9-5066756-C-G |
c.1293C>G |
p.D431E |
Missense |
10/25 |
- |
1 |
9-5066761-A-G |
c.1298A>G |
p.N433S |
Missense |
10/25 |
- |
6 |
9-5066761-A-T |
c.1298A>T |
p.N433I |
Missense |
10/25 |
- |
1 |
9-5066762-T-A |
c.1299T>A |
p.N433K |
Missense |
10/25 |
- |
1 |
9-5066762-T-G |
c.1299T>G |
p.N433K |
Missense |
10/25 |
- |
1 |
9-5066772-T-TAA |
c.1309_1310insAA |
p.L437* |
Nonsense |
10/25 |
- |
1 |
9-5066767-A-AT |
c.1310dup |
p.L437Ffs*12 |
Frameshift |
10/25 |
- |
1 |
9-5066767-AT-A |
c.1310del |
p.L437* |
Frameshift |
10/25 |
- |
3 |
9-5066773-T-C |
c.1310T>C |
p.L437S |
Missense |
10/25 |
- |
1 |
9-5066776-AC-A |
c.1313del |
p.T438Ifs*16 |
Frameshift |
10/25 |
- |
1 |
9-5066781-G-A |
c.1318G>A |
p.A440T |
Missense |
10/25 |
- |
1 |
9-5066782-C-A |
c.1319C>A |
p.A440D |
Missense |
10/25 |
- |
1 |
9-5066784-G-A |
c.1321G>A |
p.V441I |
Missense |
10/25 |
- |
1 |
9-5066786-C-A |
c.1323C>A |
p.V441= |
Synonymous |
10/25 |
- |
1 |
9-5066786-C-G |
c.1323C>G |
p.V441= |
Synonymous |
10/25 |
- |
1 |
9-5066786-C-T |
c.1323C>T |
p.V441= |
Synonymous |
10/25 |
- |
1 |
9-5066787-G-A |
c.1324G>A |
p.E442K |
Missense |
10/25 |
- |
8 |
9-5066787-G-C |
c.1324G>C |
p.E442Q |
Missense |
10/25 |
- |
4 |
9-5066787-G-T |
c.1324G>T |
p.E442* |
Nonsense |
10/25 |
- |
1 |
9-5066868-C-T |
c.1326+79C>T |
- |
IntronicSNV |
- |
10/24 |
1 |
9-5066942-C-T |
c.1326+153C>T |
- |
IntronicSNV |
- |
10/24 |
2 |
9-5067298-C-T |
c.1326+509C>T |
- |
IntronicSNV |
- |
10/24 |
3 |
9-5067301-C-A |
c.1326+512C>A |
- |
IntronicSNV |
- |
10/24 |
1 |
9-5067301-C-T |
c.1326+512C>T |
- |
IntronicSNV |
- |
10/24 |
1 |
9-5068520-T-C |
c.1327-502T>C |
- |
IntronicSNV |
- |
10/24 |
4 |
9-5068520-T-G |
c.1327-502T>G |
- |
IntronicSNV |
- |
10/24 |
4 |
9-5068596-T-C |
c.1327-426T>C |
- |
IntronicSNV |
- |
10/24 |
2 |
9-5068755-T-C |
c.1327-267T>C |
- |
IntronicSNV |
- |
10/24 |
15 |
9-5068755-T-G |
c.1327-267T>G |
- |
IntronicSNV |
- |
10/24 |
15 |
9-5069022-CGA-TGT |
c.1327_1329delinsTGT |
p.R443C |
Missense |
11/25 |
- |
1 |
9-5069022-C-T |
c.1327C>T |
p.R443* |
Nonsense |
11/25 |
- |
3 |
9-5069023-G-C |
c.1328G>C |
p.R443P |
Missense |
11/25 |
- |
1 |
9-5069023-G-T |
c.1328G>T |
p.R443L |
Missense |
11/25 |
- |
2 |
9-5069025-G-A |
c.1330G>A |
p.E444K |
Missense |
11/25 |
- |
2 |
9-5069025-G-T |
c.1330G>T |
p.E444* |
Nonsense |
11/25 |
- |
3 |
9-5069030-T-C |
c.1335T>C |
p.N445= |
Synonymous |
11/25 |
- |
1 |
9-5069031-GTC-ATG |
c.1336_1338delinsATG |
p.V446M |
Missense |
11/25 |
- |
1 |
9-5069032-T-TC |
c.1338dup |
p.I447Hfs*2 |
Frameshift |
11/25 |
- |
1 |
9-5069035-ATT-A |
c.1340_1341del |
p.I447Rfs*3 |
Frameshift |
11/25 |
- |
1 |
9-5069037-G-A |
c.1342G>A |
p.E448K |
Missense |
11/25 |
- |
2 |
9-5069041-A-G |
c.1346A>G |
p.Y449C |
Missense |
11/25 |
- |
1 |
9-5069041-A-T |
c.1346A>T |
p.Y449F |
Missense |
11/25 |
- |
1 |
9-5069045-A-C |
c.1350A>C |
p.K450N |
Missense |
11/25 |
- |
1 |
9-5069045-A-T |
c.1350A>T |
p.K450N |
Missense |
11/25 |
- |
1 |
9-5069047-A-C |
c.1352A>C |
p.H451P |
Missense |
11/25 |
- |
1 |
9-5069048-ACT-A |
c.1353_1354del |
p.H451Qfs*7 |
Frameshift |
11/25 |
- |
3 |
9-5069050-G-A |
c.1355G>A |
p.C452Y |
Missense |
11/25 |
- |
1 |
9-5069050-G-T |
c.1355G>T |
p.C452F |
Missense |
11/25 |
- |
5 |
9-5069052-T-C |
c.1357T>C |
p.L453= |
Synonymous |
11/25 |
- |
3 |
9-5069054-G-A |
c.1359G>A |
p.L453= |
Synonymous |
11/25 |
- |
3 |
9-5069055-A-C |
c.1360A>C |
p.I454L |
Missense |
11/25 |
- |
2 |
9-5069057-T-G |
c.1362T>G |
p.I454M |
Missense |
11/25 |
- |
1 |
9-5069058-A-C |
c.1363A>C |
p.T455P |
Missense |
11/25 |
- |
1 |
9-5069058-AC-GG |
c.1363_1364delinsGG |
p.T455G |
Missense |
11/25 |
- |
1 |
9-5069058-A-G |
c.1363A>G |
p.T455A |
Missense |
11/25 |
- |
1 |
9-5069058-A-T |
c.1363A>T |
p.T455S |
Missense |
11/25 |
- |
1 |
9-5069060-A-C |
c.1365A>C |
p.T455= |
Synonymous |
11/25 |
- |
1 |
9-5069060-A-G |
c.1365A>G |
p.T455= |
Synonymous |
11/25 |
- |
2 |
9-5069060-A-T |
c.1365A>T |
p.T455= |
Synonymous |
11/25 |
- |
1 |
9-5069059-CA-C |
c.1370del |
p.N457Mfs*22 |
Frameshift |
11/25 |
- |
2 |
9-5069059-C-CA |
c.1370dup |
p.N457Kfs*2 |
Frameshift |
11/25 |
- |
3 |
9-5069065-A-C |
c.1370A>C |
p.N457T |
Missense |
11/25 |
- |
1 |
9-5069067-G-T |
c.1372G>T |
p.E458* |
Nonsense |
11/25 |
- |
1 |
9-5069068-A-G |
c.1373A>G |
p.E458G |
Missense |
11/25 |
- |
1 |
9-5069069-G-A |
c.1374G>A |
p.E458= |
Synonymous |
11/25 |
- |
1 |
9-5069075-A-G |
c.1380A>G |
p.E460= |
Synonymous |
11/25 |
- |
1 |
9-5069076-G-A |
c.1381G>A |
p.E461K |
Missense |
11/25 |
- |
1 |
9-5069077-A-G |
c.1382A>G |
p.E461G |
Missense |
11/25 |
- |
1 |
9-5069077-A-T |
c.1382A>T |
p.E461V |
Missense |
11/25 |
- |
1 |
9-5069078-G-C |
c.1383G>C |
p.E461D |
Missense |
11/25 |
- |
1 |
9-5069078-G-T |
c.1383G>T |
p.E461D |
Missense |
11/25 |
- |
1 |
9-5069081-C-A |
c.1386C>A |
p.Y462* |
Nonsense |
11/25 |
- |
1 |
9-5069081-C-G |
c.1386C>G |
p.Y462* |
Nonsense |
11/25 |
- |
1 |
9-5069082-A-T |
c.1387A>T |
p.N463Y |
Missense |
11/25 |
- |
1 |
9-5069087-C-A |
c.1392C>A |
p.L464= |
Synonymous |
11/25 |
- |
1 |
9-5069087-C-G |
c.1392C>G |
p.L464= |
Synonymous |
11/25 |
- |
1 |
9-5069087-C-T |
c.1392C>T |
p.L464= |
Synonymous |
11/25 |
- |
1 |
9-5069088-AGT-TGA |
c.1393_1395delinsTGA |
p.S465* |
Nonsense |
11/25 |
- |
1 |
9-5069089-G-T |
c.1394G>T |
p.S465I |
Missense |
11/25 |
- |
1 |
9-5069091-G-A |
c.1396G>A |
p.G466R |
Missense |
11/25 |
- |
2 |
9-5069091-G-C |
c.1396G>C |
p.G466R |
Missense |
11/25 |
- |
1 |
9-5069091-G-T |
c.1396G>T |
p.G466W |
Missense |
11/25 |
- |
1 |
9-5069092-G-A |
c.1397G>A |
p.G466E |
Missense |
11/25 |
- |
1 |
9-5069092-G-C |
c.1397G>C |
p.G466A |
Missense |
11/25 |
- |
1 |
9-5069092-GG-AC |
c.1397_1398delinsAC |
p.G466D |
Missense |
11/25 |
- |
1 |
9-5069092-G-T |
c.1397G>T |
p.G466V |
Missense |
11/25 |
- |
1 |
9-5069095-C-T |
c.1400C>T |
p.T467I |
Missense |
11/25 |
- |
1 |
9-5069099-G-A |
c.1404G>A |
p.K468= |
Synonymous |
11/25 |
- |
2 |
9-5069099-G-C |
c.1404G>C |
p.K468N |
Missense |
11/25 |
- |
1 |
9-5069101-A-C |
c.1406A>C |
p.K469T |
Missense |
11/25 |
- |
1 |
9-5069101-A-G |
c.1406A>G |
p.K469R |
Missense |
11/25 |
- |
2 |
9-5069101-AG-TC |
c.1406_1407delinsTC |
p.K469I |
Missense |
11/25 |
- |
1 |
9-5069102-G-C |
c.1407G>C |
p.K469N |
Missense |
11/25 |
- |
1 |
9-5069102-G-T |
c.1407G>T |
p.K469N |
Missense |
11/25 |
- |
5 |
9-5069109-A-G |
c.1414A>G |
p.S472G |
Missense |
11/25 |
- |
1 |
9-5069109-AGC-TGA |
c.1414_1416delinsTGA |
p.S472* |
Nonsense |
11/25 |
- |
1 |
9-5069109-AG-TT |
c.1414_1415delinsTT |
p.S472F |
Missense |
11/25 |
- |
1 |
9-5069110-G-A |
c.1415G>A |
p.S472N |
Missense |
11/25 |
- |
1 |
9-5069110-G-T |
c.1415G>T |
p.S472I |
Missense |
11/25 |
- |
2 |
9-5069112-AG-GC |
c.1417_1418delinsGC |
p.S473A |
Missense |
11/25 |
- |
1 |
9-5069112-A-T |
c.1417A>T |
p.S473C |
Missense |
11/25 |
- |
1 |
9-5069113-G-A |
c.1418G>A |
p.S473N |
Missense |
11/25 |
- |
1 |
9-5069112-A-C |
c.1417A>C |
p.S473R |
Missense |
11/25 |
- |
1 |
9-5069115-C-G |
c.1420C>G |
p.L474V |
Missense |
11/25 |
- |
1 |
9-5069118-A-T |
c.1423A>T |
p.K475* |
Nonsense |
11/25 |
- |
1 |
9-5069121-G-A |
c.1426G>A |
p.D476N |
Missense |
11/25 |
- |
1 |
9-5069121-G-T |
c.1426G>T |
p.D476Y |
Missense |
11/25 |
- |
1 |
9-5069124-C-T |
c.1429C>T |
p.L477F |
Missense |
11/25 |
- |
2 |
9-5069125-T-G |
c.1430T>G |
p.L477R |
Missense |
11/25 |
- |
1 |
9-5069128-T-C |
c.1433T>C |
p.L478S |
Missense |
11/25 |
- |
1 |
9-5069131-A-C |
c.1436A>C |
p.N479T |
Missense |
11/25 |
- |
1 |
9-5069133-TG-GA |
c.1438_1439delinsGA |
p.C480D |
Missense |
11/25 |
- |
1 |
9-5069134-G-T |
c.1439G>T |
p.C480F |
Missense |
11/25 |
- |
2 |
9-5069136-T-G |
c.1441T>G |
p.Y481D |
Missense |
11/25 |
- |
1 |
9-5069139-C-T |
c.1444C>T |
p.Q482* |
Nonsense |
11/25 |
- |
1 |
9-5069140-A-C |
c.1445A>C |
p.Q482P |
Missense |
11/25 |
- |
1 |
9-5069141-G-A |
c.1446G>A |
p.Q482= |
Synonymous |
11/25 |
- |
2 |
9-5069141-G-C |
c.1446G>C |
p.Q482H |
Missense |
11/25 |
- |
3 |
9-5069141-G-T |
c.1446G>T |
p.Q482H |
Missense |
11/25 |
- |
2 |
9-5069143-T-A |
c.1448T>A |
p.M483K |
Missense |
11/25 |
- |
1 |
9-5069143-T-G |
c.1448T>G |
p.M483R |
Missense |
11/25 |
- |
1 |
9-5069144-G-A |
c.1449G>A |
p.M483I |
Missense |
11/25 |
- |
3 |
9-5069144-G-C |
c.1449G>C |
p.M483I |
Missense |
11/25 |
- |
1 |
9-5069144-G-T |
c.1449G>T |
p.M483I |
Missense |
11/25 |
- |
1 |
9-5069145-G-A |
c.1450G>A |
p.E484K |
Missense |
11/25 |
- |
15 |
9-5069145-G-C |
c.1450G>C |
p.E484Q |
Missense |
11/25 |
- |
5 |
9-5069145-G-T |
c.1450G>T |
p.E484* |
Nonsense |
11/25 |
- |
1 |
9-5069146-A-C |
c.1451A>C |
p.E484A |
Missense |
11/25 |
- |
1 |
9-5069146-A-G |
c.1451A>G |
p.E484G |
Missense |
11/25 |
- |
2 |
9-5069149-CT-AG |
c.1454_1455inv |
p.T485K |
Missense |
11/25 |
- |
1 |
9-5069153-T-G |
c.1458T>G |
p.V486= |
Synonymous |
11/25 |
- |
2 |
9-5069154-C-A |
c.1459C>A |
p.R487S |
Missense |
11/25 |
- |
1 |
9-5069154-C-G |
c.1459C>G |
p.R487G |
Missense |
11/25 |
- |
1 |
9-5069154-CG-AC |
c.1459_1460delinsAC |
p.R487T |
Missense |
11/25 |
- |
1 |
9-5069154-C-T |
c.1459C>T |
p.R487C |
Missense |
11/25 |
- |
11 |
9-5069155-G-A |
c.1460G>A |
p.R487H |
Missense |
11/25 |
- |
3 |
9-5069158-C-A |
c.1463C>A |
p.S488* |
Nonsense |
11/25 |
- |
1 |
9-5069158-C-G |
c.1463C>G |
p.S488* |
Nonsense |
11/25 |
- |
2 |
9-5069158-C-T |
c.1463C>T |
p.S488L |
Missense |
11/25 |
- |
2 |
9-5069159-A-AT |
c.1464_1465insT |
p.D489* |
Nonsense |
11/25 |
- |
1 |
9-5069160-G-A |
c.1465G>A |
p.D489N |
Missense |
11/25 |
- |
1 |
9-5069161-A-C |
c.1466A>C |
p.D489A |
Missense |
11/25 |
- |
1 |
9-5069161-A-G |
c.1466A>G |
p.D489G |
Missense |
11/25 |
- |
2 |
9-5069162-C-A |
c.1467C>A |
p.D489E |
Missense |
11/25 |
- |
1 |
9-5069164-A-G |
c.1469A>G |
p.N490S |
Missense |
11/25 |
- |
2 |
9-5069167-T-A |
c.1472T>A |
p.I491K |
Missense |
11/25 |
- |
2 |
9-5069168-A-C |
c.1473A>C |
p.I491= |
Synonymous |
11/25 |
- |
1 |
9-5069168-A-T |
c.1473A>T |
p.I491= |
Synonymous |
11/25 |
- |
1 |
9-5069170-T-C |
c.1475T>C |
p.I492T |
Missense |
11/25 |
- |
1 |
9-5069174-C-T |
c.1479C>T |
p.F493= |
Synonymous |
11/25 |
- |
7 |
9-5069175-C-T |
c.1480C>T |
p.Q494* |
Nonsense |
11/25 |
- |
1 |
9-5069176-A-C |
c.1481A>C |
p.Q494P |
Missense |
11/25 |
- |
1 |
9-5069177-G-A |
c.1482G>A |
p.Q494= |
Synonymous |
11/25 |
- |
1 |
9-5069177-G-C |
c.1482G>C |
p.Q494H |
Missense |
11/25 |
- |
1 |
9-5069177-G-T |
c.1482G>T |
p.Q494H |
Missense |
11/25 |
- |
1 |
9-5069178-T-C |
c.1483T>C |
p.F495L |
Missense |
11/25 |
- |
2 |
9-5069181-A-G |
c.1486A>G |
p.T496A |
Missense |
11/25 |
- |
1 |
9-5069182-C-G |
c.1487C>G |
p.T496S |
Missense |
11/25 |
- |
1 |
9-5069182-CT-TG |
c.1487_1488delinsTG |
p.T496M |
Missense |
11/25 |
- |
1 |
9-5069186-A-G |
c.1491A>G |
p.K497= |
Synonymous |
11/25 |
- |
1 |
9-5069187-T-A |
c.1492T>A |
p.C498S |
Missense |
11/25 |
- |
1 |
9-5069188-G-C |
c.1493G>C |
p.C498S |
Missense |
11/25 |
- |
1 |
9-5069188-G-A |
c.1493G>A |
p.C498Y |
Missense |
11/25 |
- |
1 |
9-5069188-G-T |
c.1493G>T |
p.C498F |
Missense |
11/25 |
- |
1 |
9-5069195-C-A |
c.1500C>A |
p.P500= |
Synonymous |
11/25 |
- |
1 |
9-5069195-C-G |
c.1500C>G |
p.P500= |
Synonymous |
11/25 |
- |
1 |
9-5069195-C-T |
c.1500C>T |
p.P500= |
Synonymous |
11/25 |
- |
1 |
9-5069196-C-G |
c.1501C>G |
p.P501A |
Missense |
11/25 |
- |
1 |
9-5069196-C-T |
c.1501C>T |
p.P501S |
Missense |
11/25 |
- |
3 |
9-5069192-TC-T |
c.1502del |
p.P501Qfs*10 |
Frameshift |
11/25 |
- |
2 |
9-5069192-T-TC |
c.1502dup |
p.P503Afs*4 |
Frameshift |
11/25 |
- |
2 |
9-5069197-C-A |
c.1502C>A |
p.P501Q |
Missense |
11/25 |
- |
1 |
9-5069197-C-T |
c.1502C>T |
p.P501L |
Missense |
11/25 |
- |
1 |
9-5069202-C-A |
c.1507C>A |
p.P503T |
Missense |
11/25 |
- |
1 |
9-5069202-C-G |
c.1507C>G |
p.P503A |
Missense |
11/25 |
- |
2 |
9-5069203-C-T |
c.1508C>T |
p.P503L |
Missense |
11/25 |
- |
5 |
9-5069205-AA-GC |
c.1510_1511delinsGC |
p.K504A |
Missense |
11/25 |
- |
1 |
9-5069205-A-C |
c.1510A>C |
p.K504Q |
Missense |
11/25 |
- |
1 |
9-5069208-G-A |
c.1513G>A |
p.D505N |
Missense |
11/25 |
- |
1 |
9-5069266-G-A |
c.1513+58G>A |
- |
IntronicSNV |
- |
11/24 |
1 |
9-5069522-C-T |
c.1513+314C>T |
- |
IntronicSNV |
- |
11/24 |
1 |
9-5069837-G-A |
c.1514-88G>A |
- |
IntronicSNV |
- |
11/24 |
11 |
9-5069925-GA-G |
c.1514del |
p.D505Vfs*6 |
Frameshift |
12/25 |
- |
1 |
9-5069927-AA-GC |
c.1516_1517delinsGC |
p.K506A |
Missense |
12/25 |
- |
1 |
9-5069927-A-T |
c.1516A>T |
p.K506* |
Nonsense |
12/25 |
- |
1 |
9-5069926-T-TA |
c.1518dup |
p.S507Ifs*13 |
Frameshift |
12/25 |
- |
1 |
9-5069929-A-G |
c.1518A>G |
p.K506= |
Synonymous |
12/25 |
- |
2 |
9-5069930-TC-GG |
c.1519_1520delinsGG |
p.S507G |
Missense |
12/25 |
- |
1 |
9-5069930-T-G |
c.1519T>G |
p.S507A |
Missense |
12/25 |
- |
1 |
9-5069931-C-A |
c.1520C>A |
p.S507* |
Nonsense |
12/25 |
- |
3 |
9-5069931-CA-AT |
c.1520_1521delinsAT |
p.S507Y |
Missense |
12/25 |
- |
1 |
9-5069931-C-G |
c.1520C>G |
p.S507* |
Nonsense |
12/25 |
- |
3 |
9-5069931-C-T |
c.1520C>T |
p.S507L |
Missense |
12/25 |
- |
1 |
9-5069933-A-G |
c.1522A>G |
p.N508D |
Missense |
12/25 |
- |
1 |
9-5069931-C-CA |
c.1523dup |
p.N508Kfs*12 |
Frameshift |
12/25 |
- |
1 |
9-5069934-A-G |
c.1523A>G |
p.N508S |
Missense |
12/25 |
- |
1 |
9-5069935-C-T |
c.1524C>T |
p.N508= |
Synonymous |
12/25 |
- |
1 |
9-5069936-C-G |
c.1525C>G |
p.L509V |
Missense |
12/25 |
- |
2 |
9-5069936-CT-GC |
c.1525_1526delinsGC |
p.L509A |
Missense |
12/25 |
- |
1 |
9-5069937-T-C |
c.1526T>C |
p.L509P |
Missense |
12/25 |
- |
1 |
9-5069935-CCTT-C |
c.1527_1529del |
p.L510del |
InFrameDeletion |
12/25 |
- |
1 |
9-5069936-CT-C |
c.1527del |
p.L510* |
Frameshift |
12/25 |
- |
1 |
9-5069938-T-A |
c.1527T>A |
p.L509= |
Synonymous |
12/25 |
- |
1 |
9-5069938-T-C |
c.1527T>C |
p.L509= |
Synonymous |
12/25 |
- |
1 |
9-5069938-T-G |
c.1527T>G |
p.L509= |
Synonymous |
12/25 |
- |
1 |
9-5069939-CTA-TGT |
c.1528_1530delinsTGT |
p.L510C |
Missense |
12/25 |
- |
1 |
9-5069939-CT-GC |
c.1528_1529delinsGC |
p.L510A |
Missense |
12/25 |
- |
1 |
9-5069940-T-C |
c.1529T>C |
p.L510P |
Missense |
12/25 |
- |
2 |
9-5069942-G-A |
c.1531G>A |
p.V511I |
Missense |
12/25 |
- |
1 |
9-5069942-G-T |
c.1531G>T |
p.V511F |
Missense |
12/25 |
- |
1 |
9-5069942-GT-CG |
c.1531_1532delinsCG |
p.V511R |
Missense |
12/25 |
- |
1 |
9-5069945-TT-GC |
c.1534_1535delinsGC |
p.F512A |
Missense |
12/25 |
- |
1 |
9-5069947-C-CAACTTT |
c.1537_1538insACTTTA |
p.F512_R513insNF |
InFrameInsertion |
12/25 |
- |
1 |
9-5069948-AGA-CAT |
c.1537_1539delinsCAT |
p.R513H |
Missense |
12/25 |
- |
1 |
9-5069948-AGA-TGT |
c.1537_1539delinsTGT |
p.R513C |
Missense |
12/25 |
- |
2 |
9-5069948-AG-CA |
c.1537_1538delinsCA |
p.R513Q |
Missense |
12/25 |
- |
1 |
9-5069948-AG-GC |
c.1537_1538delinsGC |
p.R513A |
Missense |
12/25 |
- |
1 |
9-5069949-G-A |
c.1538G>A |
p.R513K |
Missense |
12/25 |
- |
2 |
9-5069951-A-G |
c.1540A>G |
p.T514A |
Missense |
12/25 |
- |
2 |
9-5069951-A-T |
c.1540A>T |
p.T514S |
Missense |
12/25 |
- |
1 |
9-5069952-C-T |
c.1541C>T |
p.T514M |
Missense |
12/25 |
- |
7 |
9-5069953-G-A |
c.1542G>A |
p.T514= |
Synonymous |
12/25 |
- |
6 |
9-5069953-G-C |
c.1542G>C |
p.T514= |
Synonymous |
12/25 |
- |
3 |
9-5069953-G-T |
c.1542G>T |
p.T514= |
Synonymous |
12/25 |
- |
3 |
9-5069954-AA-GC |
c.1543_1544delinsGC |
p.N515A |
Missense |
12/25 |
- |
1 |
9-5069955-A-C |
c.1544A>C |
p.N515T |
Missense |
12/25 |
- |
1 |
9-5069957-G-A |
c.1546G>A |
p.G516S |
Missense |
12/25 |
- |
1 |
9-5069957-GG-AC |
c.1546_1547delinsAC |
p.G516T |
Missense |
12/25 |
- |
2 |
9-5069957-G-T |
c.1546G>T |
p.G516C |
Missense |
12/25 |
- |
1 |
9-5069958-G-A |
c.1547G>A |
p.G516D |
Missense |
12/25 |
- |
1 |
9-5069959-T-A |
c.1548T>A |
p.G516= |
Synonymous |
12/25 |
- |
1 |
9-5069959-T-C |
c.1548T>C |
p.G516= |
Synonymous |
12/25 |
- |
1 |
9-5069959-T-G |
c.1548T>G |
p.G516= |
Synonymous |
12/25 |
- |
1 |
9-5069962-T-C |
c.1551T>C |
p.V517= |
Synonymous |
12/25 |
- |
1 |
9-5069963-TC-CT |
c.1552_1553delinsCT |
p.S518L |
Missense |
12/25 |
- |
1 |
9-5069964-C-G |
c.1553C>G |
p.S518C |
Missense |
12/25 |
- |
2 |
9-5069964-C-T |
c.1553C>T |
p.S518F |
Missense |
12/25 |
- |
1 |
9-5069965-T-A |
c.1554T>A |
p.S518= |
Synonymous |
12/25 |
- |
2 |
9-5069965-T-C |
c.1554T>C |
p.S518= |
Synonymous |
12/25 |
- |
2 |
9-5069965-T-G |
c.1554T>G |
p.S518= |
Synonymous |
12/25 |
- |
2 |
9-5069966-G-C |
c.1555G>C |
p.D519H |
Missense |
12/25 |
- |
1 |
9-5069966-G-GT |
c.1555_1556insT |
p.D519Vfs*25 |
Frameshift |
12/25 |
- |
1 |
9-5069966-G-T |
c.1555G>T |
p.D519Y |
Missense |
12/25 |
- |
1 |
9-5069967-A-C |
c.1556A>C |
p.D519A |
Missense |
12/25 |
- |
1 |
9-5069967-A-G |
c.1556A>G |
p.D519G |
Missense |
12/25 |
- |
1 |
9-5069969-G-A |
c.1558G>A |
p.V520I |
Missense |
12/25 |
- |
3 |
9-5069969-G-T |
c.1558G>T |
p.V520L |
Missense |
12/25 |
- |
1 |
9-5069970-T-C |
c.1559T>C |
p.V520A |
Missense |
12/25 |
- |
1 |
9-5069971-A-C |
c.1560A>C |
p.V520= |
Synonymous |
12/25 |
- |
1 |
9-5069971-A-G |
c.1560A>G |
p.V520= |
Synonymous |
12/25 |
- |
1 |
9-5069971-A-T |
c.1560A>T |
p.V520= |
Synonymous |
12/25 |
- |
1 |
9-5069972-C-G |
c.1561C>G |
p.P521A |
Missense |
12/25 |
- |
1 |
9-5069973-C-A |
c.1562C>A |
p.P521Q |
Missense |
12/25 |
- |
1 |
9-5069973-C-T |
c.1562C>T |
p.P521L |
Missense |
12/25 |
- |
1 |
9-5069976-CC-AG |
c.1565_1566delinsAG |
p.T522K |
Missense |
12/25 |
- |
1 |
9-5069976-CC-GG |
c.1565_1566inv |
p.T522R |
Missense |
12/25 |
- |
1 |
9-5069976-C-T |
c.1565C>T |
p.T522I |
Missense |
12/25 |
- |
1 |
9-5069977-C-A |
c.1566C>A |
p.T522= |
Synonymous |
12/25 |
- |
2 |
9-5069977-C-G |
c.1566C>G |
p.T522= |
Synonymous |
12/25 |
- |
2 |
9-5069977-C-T |
c.1566C>T |
p.T522= |
Synonymous |
12/25 |
- |
2 |
9-5069978-T-G |
c.1567T>G |
p.S523A |
Missense |
12/25 |
- |
3 |
9-5069979-C-A |
c.1568C>A |
p.S523* |
Nonsense |
12/25 |
- |
1 |
9-5069979-C-G |
c.1568C>G |
p.S523* |
Nonsense |
12/25 |
- |
1 |
9-5069979-C-T |
c.1568C>T |
p.S523L |
Missense |
12/25 |
- |
6 |
9-5069981-CCA-ATCCTTAGC |
c.1570_1572delinsATCCTTAGC |
p.P524delinsILS |
MultiAAMissense |
12/25 |
- |
1 |
9-5069981-C-G |
c.1570C>G |
p.P524A |
Missense |
12/25 |
- |
1 |
9-5069981-C-T |
c.1570C>T |
p.P524S |
Missense |
12/25 |
- |
1 |
9-5069982-C-A |
c.1571C>A |
p.P524Q |
Missense |
12/25 |
- |
2 |
9-5069982-C-T |
c.1571C>T |
p.P524L |
Missense |
12/25 |
- |
4 |
9-5069984-A-G |
c.1573A>G |
p.T525A |
Missense |
12/25 |
- |
1 |
9-5069985-CA-TG |
c.1574_1575inv |
p.T525M |
Missense |
12/25 |
- |
1 |
9-5069985-C-T |
c.1574C>T |
p.T525I |
Missense |
12/25 |
- |
1 |
9-5069987-T-A |
c.1576T>A |
p.L526I |
Missense |
12/25 |
- |
2 |
9-5069988-T-A |
c.1577T>A |
p.L526* |
Nonsense |
12/25 |
- |
1 |
9-5069988-T-G |
c.1577T>G |
p.L526* |
Nonsense |
12/25 |
- |
1 |
9-5069990-CA-GC |
c.1579_1580delinsGC |
p.Q527A |
Missense |
12/25 |
- |
1 |
9-5069990-C-T |
c.1579C>T |
p.Q527* |
Nonsense |
12/25 |
- |
1 |
9-5069993-AG-GC |
c.1582_1583delinsGC |
p.R528A |
Missense |
12/25 |
- |
1 |
9-5069994-G-A |
c.1583G>A |
p.R528K |
Missense |
12/25 |
- |
1 |
9-5069994-G-T |
c.1583G>T |
p.R528M |
Missense |
12/25 |
- |
2 |
9-5069993-A-C |
c.1582A>C |
p.R528= |
Synonymous |
12/25 |
- |
2 |
9-5069995-G-A |
c.1584G>A |
p.R528= |
Synonymous |
12/25 |
- |
2 |
9-5069995-G-C |
c.1584G>C |
p.R528S |
Missense |
12/25 |
- |
1 |
9-5069995-G-T |
c.1584G>T |
p.R528S |
Missense |
12/25 |
- |
2 |
9-5069996-C-G |
c.1585C>G |
p.P529A |
Missense |
12/25 |
- |
1 |
9-5069996-C-T |
c.1585C>T |
p.P529S |
Missense |
12/25 |
- |
3 |
9-5069997-C-A |
c.1586C>A |
p.P529H |
Missense |
12/25 |
- |
2 |
9-5069997-C-T |
c.1586C>T |
p.P529L |
Missense |
12/25 |
- |
1 |
9-5069998-T-C |
c.1587T>C |
p.P529= |
Synonymous |
12/25 |
- |
1 |
9-5069999-A-T |
c.1588A>T |
p.T530S |
Missense |
12/25 |
- |
1 |
9-5070002-C-A |
c.1591C>A |
p.H531N |
Missense |
12/25 |
- |
1 |
9-5070002-C-T |
c.1591C>T |
p.H531Y |
Missense |
12/25 |
- |
1 |
9-5070003-A-G |
c.1592A>G |
p.H531R |
Missense |
12/25 |
- |
1 |
9-5070005-A-C |
c.1594A>C |
p.M532L |
Missense |
12/25 |
- |
1 |
9-5070005-A-G |
c.1594A>G |
p.M532V |
Missense |
12/25 |
- |
3 |
9-5070006-T-C |
c.1595T>C |
p.M532T |
Missense |
12/25 |
- |
1 |
9-5070007-G-A |
c.1596G>A |
p.M532I |
Missense |
12/25 |
- |
3 |
9-5070007-G-C |
c.1596G>C |
p.M532I |
Missense |
12/25 |
- |
2 |
9-5070007-G-T |
c.1596G>T |
p.M532I |
Missense |
12/25 |
- |
2 |
9-5070008-AA-GC |
c.1597_1598delinsGC |
p.N533A |
Missense |
12/25 |
- |
1 |
9-5070008-A-G |
c.1597A>G |
p.N533D |
Missense |
12/25 |
- |
5 |
9-5070008-A-T |
c.1597A>T |
p.N533Y |
Missense |
12/25 |
- |
6 |
9-5070009-A-G |
c.1598A>G |
p.N533S |
Missense |
12/25 |
- |
2 |
9-5070010-C-A |
c.1599C>A |
p.N533K |
Missense |
12/25 |
- |
1 |
9-5070010-C-G |
c.1599C>G |
p.N533K |
Missense |
12/25 |
- |
1 |
9-5070010-C-T |
c.1599C>T |
p.N533= |
Synonymous |
12/25 |
- |
1 |
9-5070011-C-A |
c.1600C>A |
p.Q534K |
Missense |
12/25 |
- |
1 |
9-5070013-A-T |
c.1602A>T |
p.Q534H |
Missense |
12/25 |
- |
1 |
9-5070014-A-G |
c.1603A>G |
p.M535V |
Missense |
12/25 |
- |
1 |
9-5070014-AT-GC |
c.1603_1604delinsGC |
p.M535A |
Missense |
12/25 |
- |
1 |
9-5070014-ATG-TTT |
c.1603_1605delinsTTT |
p.M535F |
Missense |
12/25 |
- |
1 |
9-5070015-T-A |
c.1604T>A |
p.M535K |
Missense |
12/25 |
- |
1 |
9-5070015-T-C |
c.1604T>C |
p.M535T |
Missense |
12/25 |
- |
1 |
9-5070016-G-A |
c.1605G>A |
p.M535I |
Missense |
12/25 |
- |
7 |
9-5070016-G-C |
c.1605G>C |
p.M535I |
Missense |
12/25 |
- |
7 |
9-5070016-G-T |
c.1605G>T |
p.M535I |
Missense |
12/25 |
- |
8 |
9-5070018-T-A |
c.1607T>A |
p.V536E |
Missense |
12/25 |
- |
1 |
9-5070019-G-A |
c.1608G>A |
p.V536= |
Synonymous |
12/25 |
- |
2 |
9-5070019-G-C |
c.1608G>C |
p.V536= |
Synonymous |
12/25 |
- |
1 |
9-5070019-G-T |
c.1608G>T |
p.V536= |
Synonymous |
12/25 |
- |
1 |
9-5070020-T-A |
c.1609T>A |
p.F537I |
Missense |
12/25 |
- |
1 |
9-5070020-T-C |
c.1609T>C |
p.F537L |
Missense |
12/25 |
- |
4 |
9-5070020-TT-GC |
c.1609_1610delinsGC |
p.F537A |
Missense |
12/25 |
- |
2 |
9-5070022-T-A |
c.1611T>A |
p.F537L |
Missense |
12/25 |
- |
2 |
9-5070022-T-G |
c.1611T>G |
p.F537L |
Missense |
12/25 |
- |
2 |
9-5070022-T-C |
c.1611T>C |
p.F537= |
Synonymous |
12/25 |
- |
1 |
9-5070022-TTCACAA-T |
c.1611_1616del |
p.F537_K539delinsL |
MultiAAMissense |
12/25 |
- |
4 |
9-5070023-C-A |
c.1612C>A |
p.H538N |
Missense |
12/25 |
- |
3 |
9-5070023-CA-GG |
c.1612_1613delinsGG |
p.H538G |
Missense |
12/25 |
- |
1 |
9-5070023-C-T |
c.1612C>T |
p.H538Y |
Missense |
12/25 |
- |
3 |
9-5070023-TCACAAA-T |
c.1612_1617del |
p.H538_K539del |
InFrameDeletion |
12/25 |
- |
1 |
9-5070023-TCACAA-T |
c.1612_1616del |
p.H538Nfs*4 |
Frameshift |
12/25 |
- |
1 |
9-5070025-CAAA-ACTT |
c.1614_1617delinsACTT |
p.H538_K539delinsQL |
MultiAAMissense |
12/25 |
- |
1 |
9-5070024-ACAA-T |
c.1613_1616delinsT |
p.H538_K539delinsL |
MultiAAMissense |
12/25 |
- |
2 |
9-5070024-A-G |
c.1613A>G |
p.H538R |
Missense |
12/25 |
- |
2 |
9-5070024-A-T |
c.1613A>T |
p.H538L |
Missense |
12/25 |
- |
2 |
9-5070023-CACA-C |
c.1614_1616del |
p.H538_K539delinsQ |
MultiAAMissense |
12/25 |
- |
1 |
9-5070025-C-A |
c.1614C>A |
p.H538Q |
Missense |
12/25 |
- |
12 |
9-5070025-CAA-ATT |
c.1614_1616delinsATT |
p.H538_K539delinsQL |
MultiAAMissense |
12/25 |
- |
1 |
9-5070025-C-G |
c.1614C>G |
p.H538Q |
Missense |
12/25 |
- |
12 |
9-5070026-AA-CT |
c.1615_1616delinsCT |
p.K539L |
Missense |
12/25 |
- |
79 |
9-5070026-A-G |
c.1615A>G |
p.K539E |
Missense |
12/25 |
- |
5 |
9-5070025-CAAA-C |
c.1616_1618del |
p.K539del |
InFrameDeletion |
12/25 |
- |
4 |
9-5070027-A-C |
c.1616A>C |
p.K539T |
Missense |
12/25 |
- |
2 |
9-5070027-A-T |
c.1616A>T |
p.K539I |
Missense |
12/25 |
- |
7 |
9-5070028-A-T |
c.1617A>T |
p.K539N |
Missense |
12/25 |
- |
1 |
9-5070025-CA-C |
c.1618del |
p.I540Sfs*6 |
Frameshift |
12/25 |
- |
2 |
9-5070029-A-G |
c.1618A>G |
p.I540V |
Missense |
12/25 |
- |
2 |
9-5070029-ATC-CTTGTA |
c.1618_1620delinsCTTGTA |
p.I540delinsLV |
MultiAAMissense |
12/25 |
- |
1 |
9-5070029-AT-GC |
c.1618_1619delinsGC |
p.I540A |
Missense |
12/25 |
- |
1 |
9-5070030-T-A |
c.1619T>A |
p.I540N |
Missense |
12/25 |
- |
2 |
9-5070030-T-C |
c.1619T>C |
p.I540T |
Missense |
12/25 |
- |
3 |
9-5070030-TCAGAAATG-GAA |
c.1619_1627delinsGAA |
p.I540_E543delinsRK |
MultiAAMissense |
12/25 |
- |
1 |
9-5070031-CAGAAATG-GA |
c.1620_1627delinsGA |
p.I540_E543delinsMK |
MultiAAMissense |
12/25 |
- |
2 |
9-5070031-C-G |
c.1620C>G |
p.I540M |
Missense |
12/25 |
- |
1 |
9-5070032-A-C |
c.1621A>C |
p.R541= |
Synonymous |
12/25 |
- |
1 |
9-5070032-A-G |
c.1621A>G |
p.R541G |
Missense |
12/25 |
- |
2 |
9-5070032-AGA-TGG |
c.1621_1623delinsTGG |
p.R541W |
Missense |
12/25 |
- |
1 |
9-5070032-A-T |
c.1621A>T |
p.R541* |
Nonsense |
12/25 |
- |
1 |
9-5070033-AGAAATG-A |
c.1622_1627del |
p.R541_E543delinsK |
MultiAAMissense |
12/25 |
- |
1 |
9-5070033-G-T |
c.1622G>T |
p.R541I |
Missense |
12/25 |
- |
1 |
9-5070034-A-T |
c.1623A>T |
p.R541S |
Missense |
12/25 |
- |
1 |
9-5070033-GAAATGA-G |
c.1624_1629del |
p.N542_E543del |
InFrameDeletion |
12/25 |
- |
5 |
9-5070035-AA-GC |
c.1624_1625delinsGC |
p.N542A |
Missense |
12/25 |
- |
1 |
9-5070036-A-G |
c.1625A>G |
p.N542S |
Missense |
12/25 |
- |
1 |
9-5070035-AATGAAG-A |
c.1627_1632del |
p.E543_D544del |
InFrameDeletion |
12/25 |
- |
2 |
9-5070038-G-A |
c.1627G>A |
p.E543K |
Missense |
12/25 |
- |
3 |
9-5070038-GAA-AAGAAG |
c.1627_1629delinsAAGAAG |
p.E543delinsKK |
MultiAAMissense |
12/25 |
- |
1 |
9-5070038-GAA-ATGAAG |
c.1627_1629delinsATGAAG |
p.E543delinsMK |
MultiAAMissense |
12/25 |
- |
5 |
9-5070038-G-C |
c.1627G>C |
p.E543Q |
Missense |
12/25 |
- |
1 |
9-5070038-G-T |
c.1627G>T |
p.E543* |
Nonsense |
12/25 |
- |
1 |
9-5070039-A-C |
c.1628A>C |
p.E543A |
Missense |
12/25 |
- |
2 |
9-5070039-A-G |
c.1628A>G |
p.E543G |
Missense |
12/25 |
- |
1 |
9-5070039-A-T |
c.1628A>T |
p.E543V |
Missense |
12/25 |
- |
1 |
9-5070037-TGAA-T |
c.1629_1631del |
p.E543del |
InFrameDeletion |
12/25 |
- |
35 |
9-5070040-A-C |
c.1629A>C |
p.E543D |
Missense |
12/25 |
- |
3 |
9-5070040-A-T |
c.1629A>T |
p.E543D |
Missense |
12/25 |
- |
4 |
9-5070041-AGAT-A |
c.1630_1632del |
p.D544del |
InFrameDeletion |
12/25 |
- |
16 |
9-5070041-G-A |
c.1630G>A |
p.D544N |
Missense |
12/25 |
- |
1 |
9-5070041-G-C |
c.1630G>C |
p.D544H |
Missense |
12/25 |
- |
1 |
9-5070042-A-G |
c.1631A>G |
p.D544G |
Missense |
12/25 |
- |
2 |
9-5070040-AGATTT-A |
c.1633_1637del |
p.L545Ifs*2 |
Frameshift |
12/25 |
- |
1 |
9-5070044-T-G |
c.1633T>G |
p.L545V |
Missense |
12/25 |
- |
3 |
9-5070044-TTG-CAT |
c.1633_1635delinsCAT |
p.L545H |
Missense |
12/25 |
- |
1 |
9-5070044-TTTG-T |
c.1633_1635del |
p.L545del |
InFrameDeletion |
12/25 |
- |
2 |
9-5070045-T-C |
c.1634T>C |
p.L545S |
Missense |
12/25 |
- |
1 |
9-5070045-TG-GT |
c.1634_1635delinsGT |
p.L545C |
Missense |
12/25 |
- |
1 |
9-5070047-A-G |
c.1636A>G |
p.I546V |
Missense |
12/25 |
- |
2 |
9-5070048-TA-GC |
c.1637_1638delinsGC |
p.I546S |
Missense |
12/25 |
- |
1 |
9-5070050-T-C |
c.1639T>C |
p.F547L |
Missense |
12/25 |
- |
10 |
9-5070050-T-G |
c.1639T>G |
p.F547V |
Missense |
12/25 |
- |
1 |
9-5070052-T-A |
c.1641T>A |
p.F547L |
Missense |
12/25 |
- |
10 |
9-5070052-T-G |
c.1641T>G |
p.F547L |
Missense |
12/25 |
- |
9 |
9-5070051-T-C |
c.1640T>C |
p.F547S |
Missense |
12/25 |
- |
1 |
9-5070051-T-G |
c.1640T>G |
p.F547C |
Missense |
12/25 |
- |
1 |
9-5070053-G-T |
c.1641+1G>T |
- |
IntronicSNV |
- |
12/24 |
1 |
9-5070054-T-G |
c.1641+2T>G |
- |
IntronicSNV |
- |
12/24 |
2 |
9-5070058-T-C |
c.1641+6T>C |
- |
IntronicSNV |
- |
12/24 |
4 |
9-5070182-C-T |
c.1641+130C>T |
- |
IntronicSNV |
- |
12/24 |
1 |
9-5070227-ATTATC-A |
c.1641+179_1641+183del |
- |
IntronicDeletion |
- |
12/24 |
2 |
9-5070401-A-G |
c.1641+349A>G |
- |
IntronicSNV |
- |
12/24 |
1 |
9-5070831-C-G |
c.1641+779C>G |
- |
IntronicSNV |
- |
12/24 |
46 |
9-5071049-G-A |
c.1641+997G>A |
- |
IntronicSNV |
- |
12/24 |
6 |
9-5071942-C-G |
c.1642-550C>G |
- |
IntronicSNV |
- |
12/24 |
3 |
9-5072182-C-T |
c.1642-310C>T |
- |
IntronicSNV |
- |
12/24 |
4 |
9-5072493-A-AT |
c.1644dup |
p.E549* |
Nonsense |
13/25 |
- |
1 |
9-5072495-G-A |
c.1645G>A |
p.E549K |
Missense |
13/25 |
- |
1 |
9-5072496-A-G |
c.1646A>G |
p.E549G |
Missense |
13/25 |
- |
1 |
9-5072487-T-TGAAGAATGAAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAA |
c.1647_1648insGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTGGTCGCCGTATCATTAAAAAAAGAAGAATGAA |
p.S550Dfs*7 |
Frameshift |
13/25 |
- |
1 |
9-5072498-AGC-TGA |
c.1648_1650delinsTGA |
p.S550* |
Nonsense |
13/25 |
- |
1 |
9-5072498-AG-GC |
c.1648_1649delinsGC |
p.S550A |
Missense |
13/25 |
- |
1 |
9-5072498-A-T |
c.1648A>T |
p.S550C |
Missense |
13/25 |
- |
1 |
9-5072499-G-A |
c.1649G>A |
p.S550N |
Missense |
13/25 |
- |
1 |
9-5072499-G-C |
c.1649G>C |
p.S550T |
Missense |
13/25 |
- |
1 |
9-5072501-CT-AG |
c.1651_1652inv |
p.L551S |
Missense |
13/25 |
- |
1 |
9-5072502-T-C |
c.1652T>C |
p.L551P |
Missense |
13/25 |
- |
1 |
9-5072504-G-C |
c.1654G>C |
p.G552R |
Missense |
13/25 |
- |
1 |
9-5072505-G-A |
c.1655G>A |
p.G552D |
Missense |
13/25 |
- |
1 |
9-5072505-G-C |
c.1655G>C |
p.G552A |
Missense |
13/25 |
- |
2 |
9-5072509-A-C |
c.1659A>C |
p.Q553H |
Missense |
13/25 |
- |
1 |
9-5072509-A-G |
c.1659A>G |
p.Q553= |
Synonymous |
13/25 |
- |
2 |
9-5072509-A-T |
c.1659A>T |
p.Q553H |
Missense |
13/25 |
- |
1 |
9-5072510-G-A |
c.1660G>A |
p.G554S |
Missense |
13/25 |
- |
1 |
9-5072511-G-A |
c.1661G>A |
p.G554D |
Missense |
13/25 |
- |
2 |
9-5072511-G-C |
c.1661G>C |
p.G554A |
Missense |
13/25 |
- |
1 |
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.T555Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.T555Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.T555Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.T555Dfs*14 |
Frameshift |
13/25 |
- |
1 |
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.T555Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072511-G-GAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1661_1662insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.T555Dfs*13 |
Frameshift |
13/25 |
- |
1 |
9-5072516-T-C |
c.1666T>C |
p.F556L |
Missense |
13/25 |
- |
3 |
9-5072516-T-G |
c.1666T>G |
p.F556V |
Missense |
13/25 |
- |
13 |
9-5072518-T-A |
c.1668T>A |
p.F556L |
Missense |
13/25 |
- |
2 |
9-5072518-T-G |
c.1668T>G |
p.F556L |
Missense |
13/25 |
- |
2 |
9-5072517-T-A |
c.1667T>A |
p.F556Y |
Missense |
13/25 |
- |
1 |
9-5072514-CT-C |
c.1668del |
p.F556Lfs*12 |
Frameshift |
13/25 |
- |
2 |
9-5072519-ACA-TGT |
c.1669_1671inv |
p.T557C |
Missense |
13/25 |
- |
1 |
9-5072519-A-T |
c.1669A>T |
p.T557S |
Missense |
13/25 |
- |
1 |
9-5072521-A-AGTAACTAATATCCTGATTATTTGCTGT |
c.1671_1672insGTAACTAATATCCTGATTATTTGCTGT |
p.T557_K558insVTNILIICC |
InFrameInsertion |
13/25 |
- |
1 |
9-5072522-A-G |
c.1672A>G |
p.K558E |
Missense |
13/25 |
- |
1 |
9-5072520-C-CA |
c.1673dup |
p.I559Dfs*3 |
Frameshift |
13/25 |
- |
1 |
9-5072523-A-C |
c.1673A>C |
p.K558T |
Missense |
13/25 |
- |
1 |
9-5072523-A-G |
c.1673A>G |
p.K558R |
Missense |
13/25 |
- |
1 |
9-5072524-G-A |
c.1674G>A |
p.K558= |
Synonymous |
13/25 |
- |
1 |
9-5072524-G-C |
c.1674G>C |
p.K558N |
Missense |
13/25 |
- |
1 |
9-5072525-A-C |
c.1675A>C |
p.I559L |
Missense |
13/25 |
- |
2 |
9-5072525-A-T |
c.1675A>T |
p.I559F |
Missense |
13/25 |
- |
4 |
9-5072525-ATT-GAG |
c.1675_1677delinsGAG |
p.I559E |
Missense |
13/25 |
- |
1 |
9-5072527-T-G |
c.1677T>G |
p.I559M |
Missense |
13/25 |
- |
1 |
9-5072529-T-C |
c.1679T>C |
p.F560S |
Missense |
13/25 |
- |
1 |
9-5072525-A-AT |
c.1680dup |
p.K561* |
Nonsense |
13/25 |
- |
1 |
9-5072530-T-G |
c.1680T>G |
p.F560L |
Missense |
13/25 |
- |
1 |
9-5072534-G-C |
c.1684G>C |
p.G562R |
Missense |
13/25 |
- |
1 |
9-5072535-G-A |
c.1685G>A |
p.G562D |
Missense |
13/25 |
- |
1 |
9-5072536-C-A |
c.1686C>A |
p.G562= |
Synonymous |
13/25 |
- |
1 |
9-5072536-C-CTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT |
c.1686_1687insTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT |
p.G562_V563insFLFKQKTAYEIPQCDWSSDVCSSDLKV |
InFrameInsertion |
13/25 |
- |
1 |
9-5072536-C-G |
c.1686C>G |
p.G562= |
Synonymous |
13/25 |
- |
1 |
9-5072536-C-T |
c.1686C>T |
p.G562= |
Synonymous |
13/25 |
- |
3 |
9-5072537-G-A |
c.1687G>A |
p.V563I |
Missense |
13/25 |
- |
6 |
9-5072531-A-AAAGGCGTACTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCT |
c.1690_1691insTTTTTTTCAAGCAGAAGACGGCATACGAGATGACGGATTGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAGGCGTAC |
p.R564Lfs*39 |
Frameshift |
13/25 |
- |
1 |
9-5072540-C-G |
c.1690C>G |
p.R564G |
Missense |
13/25 |
- |
3 |
9-5072540-C-T |
c.1690C>T |
p.R564* |
Nonsense |
13/25 |
- |
4 |
9-5072541-G-A |
c.1691G>A |
p.R564Q |
Missense |
13/25 |
- |
33 |
9-5072541-G-T |
c.1691G>T |
p.R564L |
Missense |
13/25 |
- |
11 |
9-5072543-AGA-TGG |
c.1693_1695delinsTGG |
p.R565W |
Missense |
13/25 |
- |
2 |
9-5072543-AG-CA |
c.1693_1694delinsCA |
p.R565Q |
Missense |
13/25 |
- |
1 |
9-5072543-AG-GC |
c.1693_1694delinsGC |
p.R565A |
Missense |
13/25 |
- |
1 |
9-5072543-A-T |
c.1693A>T |
p.R565* |
Nonsense |
13/25 |
- |
3 |
9-5072544-G-T |
c.1694G>T |
p.R565I |
Missense |
13/25 |
- |
1 |
9-5072546-G-A |
c.1696G>A |
p.E566K |
Missense |
13/25 |
- |
1 |
9-5072546-GA-TC |
c.1696_1697inv |
p.E566S |
Missense |
13/25 |
- |
1 |
9-5072546-G-T |
c.1696G>T |
p.E566* |
Nonsense |
13/25 |
- |
1 |
9-5072548-A-C |
c.1698A>C |
p.E566D |
Missense |
13/25 |
- |
1 |
9-5072548-A-T |
c.1698A>T |
p.E566D |
Missense |
13/25 |
- |
2 |
9-5072549-G-C |
c.1699G>C |
p.V567L |
Missense |
13/25 |
- |
2 |
9-5072549-G-T |
c.1699G>T |
p.V567L |
Missense |
13/25 |
- |
3 |
9-5072547-AAGT-A |
c.1700_1702del |
p.V567del |
InFrameDeletion |
13/25 |
- |
1 |
9-5072550-T-A |
c.1700T>A |
p.V567E |
Missense |
13/25 |
- |
2 |
9-5072550-T-C |
c.1700T>C |
p.V567A |
Missense |
13/25 |
- |
7 |
9-5072555-G-A |
c.1705G>A |
p.D569N |
Missense |
13/25 |
- |
1 |
9-5072555-G-T |
c.1705G>T |
p.D569Y |
Missense |
13/25 |
- |
2 |
9-5072556-A-C |
c.1706A>C |
p.D569A |
Missense |
13/25 |
- |
1 |
9-5072556-A-G |
c.1706A>G |
p.D569G |
Missense |
13/25 |
- |
1 |
9-5072558-TA-CG |
c.1708_1709delinsCG |
p.Y570R |
Missense |
13/25 |
- |
1 |
9-5072558-TAC-GAG |
c.1708_1710delinsGAG |
p.Y570E |
Missense |
13/25 |
- |
1 |
9-5072558-T-G |
c.1708T>G |
p.Y570D |
Missense |
13/25 |
- |
2 |
9-5072559-A-G |
c.1709A>G |
p.Y570C |
Missense |
13/25 |
- |
1 |
9-5072559-A-T |
c.1709A>T |
p.Y570F |
Missense |
13/25 |
- |
9 |
9-5072560-C-T |
c.1710C>T |
p.Y570= |
Synonymous |
13/25 |
- |
2 |
9-5072561-G-A |
c.1711G>A |
p.G571S |
Missense |
13/25 |
- |
38 |
9-5072561-G-C |
c.1711G>C |
p.G571R |
Missense |
13/25 |
- |
5 |
9-5072561-G-T |
c.1711G>T |
p.G571C |
Missense |
13/25 |
- |
1 |
9-5072562-G-A |
c.1712G>A |
p.G571D |
Missense |
13/25 |
- |
2 |
9-5072564-C-T |
c.1714C>T |
p.Q572* |
Nonsense |
13/25 |
- |
1 |
9-5072566-A-C |
c.1716A>C |
p.Q572H |
Missense |
13/25 |
- |
1 |
9-5072566-A-T |
c.1716A>T |
p.Q572H |
Missense |
13/25 |
- |
1 |
9-5072567-C-A |
c.1717C>A |
p.L573M |
Missense |
13/25 |
- |
1 |
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACAGCAGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.H574Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACACCACTGTATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.H574Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACATGCCTAAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.H574Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCAAGACTAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.H574Dfs*14 |
Frameshift |
13/25 |
- |
1 |
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCCTGAATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAGGACCTCCAGGAGAGCTGCAGAGCACAGAGACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.H574Dfs*22 |
Frameshift |
13/25 |
- |
1 |
9-5072568-T-TAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
c.1718_1719insAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCGCTGATCATCTCGTTTGCCGTCTTCTGCTTGGAAAAAAAAAACACCACTGACGTGCCTGAGATGCCTCACTCCAA |
p.H574Dfs*13 |
Frameshift |
13/25 |
- |
1 |
9-5072570-C-A |
c.1720C>A |
p.H574N |
Missense |
13/25 |
- |
1 |
9-5072571-A-G |
c.1721A>G |
p.H574R |
Missense |
13/25 |
- |
5 |
9-5072572-T-C |
c.1722T>C |
p.H574= |
Synonymous |
13/25 |
- |
1 |
9-5072573-G-A |
c.1723G>A |
p.E575K |
Missense |
13/25 |
- |
2 |
9-5072576-A-G |
c.1726A>G |
p.T576A |
Missense |
13/25 |
- |
1 |
9-5072578-A-C |
c.1728A>C |
p.T576= |
Synonymous |
13/25 |
- |
1 |
9-5072578-A-G |
c.1728A>G |
p.T576= |
Synonymous |
13/25 |
- |
1 |
9-5072578-A-T |
c.1728A>T |
p.T576= |
Synonymous |
13/25 |
- |
1 |
9-5072577-CAG-C |
c.1729_1730del |
p.E577Sfs*8 |
Frameshift |
13/25 |
- |
7 |
9-5072579-G-A |
c.1729G>A |
p.E577K |
Missense |
13/25 |
- |
4 |
9-5072579-G-C |
c.1729G>C |
p.E577Q |
Missense |
13/25 |
- |
1 |
9-5072582-AGTT-A |
c.1732_1734del |
p.V578del |
InFrameDeletion |
13/25 |
- |
1 |
9-5072583-T-C |
c.1733T>C |
p.V578A |
Missense |
13/25 |
- |
1 |
9-5072585-C-A |
c.1735C>A |
p.L579I |
Missense |
13/25 |
- |
1 |
9-5072585-C-T |
c.1735C>T |
p.L579F |
Missense |
13/25 |
- |
9 |
9-5072586-T-C |
c.1736T>C |
p.L579P |
Missense |
13/25 |
- |
5 |
9-5072588-T-C |
c.1738T>C |
p.L580= |
Synonymous |
13/25 |
- |
1 |
9-5072588-T-G |
c.1738T>G |
p.L580V |
Missense |
13/25 |
- |
1 |
9-5072588-TTA-ATG |
c.1738_1740delinsATG |
p.L580M |
Missense |
13/25 |
- |
1 |
9-5072591-AA-GC |
c.1741_1742delinsGC |
p.K581A |
Missense |
13/25 |
- |
7 |
9-5072592-A-C |
c.1742A>C |
p.K581T |
Missense |
13/25 |
- |
1 |
9-5072592-A-G |
c.1742A>G |
p.K581R |
Missense |
13/25 |
- |
5 |
9-5072595-T-C |
c.1745T>C |
p.V582A |
Missense |
13/25 |
- |
1 |
9-5072597-CTGGATAAAG-T |
c.1747_1756delinsT |
p.L583_A586delinsS |
MultiAAMissense |
13/25 |
- |
1 |
9-5072598-CTGGATAAAG-C |
c.1748_1756del |
p.L583_A586delinsP |
MultiAAMissense |
13/25 |
- |
1 |
9-5072599-G-T |
c.1749G>T |
p.L583= |
Synonymous |
13/25 |
- |
2 |
9-5072600-G-A |
c.1750G>A |
p.D584N |
Missense |
13/25 |
- |
2 |
9-5072602-T-A |
c.1752T>A |
p.D584E |
Missense |
13/25 |
- |
4 |
9-5072602-T-G |
c.1752T>G |
p.D584E |
Missense |
13/25 |
- |
2 |
9-5072606-G-A |
c.1756G>A |
p.A586T |
Missense |
13/25 |
- |
3 |
9-5072606-G-C |
c.1756G>C |
p.A586P |
Missense |
13/25 |
- |
2 |
9-5072607-C-G |
c.1757C>G |
p.A586G |
Missense |
13/25 |
- |
1 |
9-5072607-C-T |
c.1757C>T |
p.A586V |
Missense |
13/25 |
- |
1 |
9-5072609-C-A |
c.1759C>A |
p.H587N |
Missense |
13/25 |
- |
11 |
9-5072609-C-T |
c.1759C>T |
p.H587Y |
Missense |
13/25 |
- |
1 |
9-5072610-A-G |
c.1760A>G |
p.H587R |
Missense |
13/25 |
- |
1 |
9-5072612-AGA-CAT |
c.1762_1764delinsCAT |
p.R588H |
Missense |
13/25 |
- |
1 |
9-5072612-AGA-TGT |
c.1762_1764delinsTGT |
p.R588C |
Missense |
13/25 |
- |
1 |
9-5072612-AG-GA |
c.1762_1763delinsGA |
p.R588E |
Missense |
13/25 |
- |
1 |
9-5072612-AG-GC |
c.1762_1763delinsGC |
p.R588A |
Missense |
13/25 |
- |
3 |
9-5072612-A-T |
c.1762A>T |
p.R588* |
Nonsense |
13/25 |
- |
1 |
9-5072611-CAG-C |
c.1763_1764del |
p.R588Kfs*8 |
Frameshift |
13/25 |
- |
7 |
9-5072613-GA-TG |
c.1763_1764delinsTG |
p.R588M |
Missense |
13/25 |
- |
2 |
9-5072613-G-T |
c.1763G>T |
p.R588I |
Missense |
13/25 |
- |
5 |
9-5072615-AA-GC |
c.1765_1766delinsGC |
p.N589A |
Missense |
13/25 |
- |
1 |
9-5072615-AA-TG |
c.1765_1766delinsTG |
p.N589C |
Missense |
13/25 |
- |
1 |
9-5072617-C-A |
c.1767C>A |
p.N589K |
Missense |
13/25 |
- |
1 |
9-5072618-T-A |
c.1768T>A |
p.Y590N |
Missense |
13/25 |
- |
1 |
9-5072618-TA-GC |
c.1768_1769delinsGC |
p.Y590A |
Missense |
13/25 |
- |
1 |
9-5072618-TAT-GAG |
c.1768_1770delinsGAG |
p.Y590E |
Missense |
13/25 |
- |
1 |
9-5072618-T-C |
c.1768T>C |
p.Y590H |
Missense |
13/25 |
- |
1 |
9-5072619-A-C |
c.1769A>C |
p.Y590S |
Missense |
13/25 |
- |
1 |
9-5072619-A-T |
c.1769A>T |
p.Y590F |
Missense |
13/25 |
- |
3 |
9-5072620-T-A |
c.1770T>A |
p.Y590* |
Nonsense |
13/25 |
- |
1 |
9-5072621-T-G |
c.1771T>G |
p.S591A |
Missense |
13/25 |
- |
1 |
9-5072622-CA-AT |
c.1772_1773delinsAT |
p.S591Y |
Missense |
13/25 |
- |
1 |
9-5072622-C-T |
c.1772C>T |
p.S591L |
Missense |
13/25 |
- |
9 |
9-5072624-G-A |
c.1774G>A |
p.E592K |
Missense |
13/25 |
- |
9 |
9-5072624-GA-AG |
c.1774_1775delinsAG |
p.E592R |
Missense |
13/25 |
- |
4 |
9-5072624-GA-TG |
c.1774_1775delinsTG |
p.E592W |
Missense |
13/25 |
- |
2 |
9-5072624-G-C |
c.1774G>C |
p.E592Q |
Missense |
13/25 |
- |
2 |
9-5072625-A-C |
c.1775A>C |
p.E592A |
Missense |
13/25 |
- |
2 |
9-5072626-G-C |
c.1776G>C |
p.E592D |
Missense |
13/25 |
- |
1 |
9-5072627-G-T |
c.1776+1G>T |
- |
IntronicSNV |
- |
13/24 |
1 |
9-5072626-GGT-G |
c.1776+5_1776+6del |
- |
SpliceDonorDeletion |
- |
13/24 |
3 |
9-5072672-G-A |
c.1776+46G>A |
- |
IntronicSNV |
- |
13/24 |
1 |
9-5072798-T-C |
c.1776+172T>C |
- |
IntronicSNV |
- |
13/24 |
11 |
9-5072840-GCATTATGTTAGGAGTGTTATTACATTTCTGCATATACTGTGGCCTTGATTTTCAAACTT-G |
c.1776+214_1776+272del |
- |
Unclassified |
- |
13/24 |
1 |
9-5072846-G-A |
c.1776+220G>A |
- |
IntronicSNV |
- |
13/24 |
13 |
9-5073138-G-T |
c.1776+512G>T |
- |
IntronicSNV |
- |
13/24 |
1 |
9-5073289-G-A |
c.1777-409G>A |
- |
IntronicSNV |
- |
13/24 |
2 |
9-5073289-G-T |
c.1777-409G>T |
- |
IntronicSNV |
- |
13/24 |
2 |
9-5073691-T-G |
c.1777-7T>G |
- |
IntronicSNV |
- |
13/24 |
1 |
9-5073699-C-T |
c.1778C>T |
p.S593F |
Missense |
14/25 |
- |
2 |
9-5073699-CTT-C |
c.1780_1781del |
p.F594Lfs*2 |
Frameshift |
14/25 |
- |
1 |
9-5073701-TT-GC |
c.1780_1781delinsGC |
p.F594A |
Missense |
14/25 |
- |
2 |
9-5073699-C-CT |
c.1781dup |
p.F595Lfs*2 |
Frameshift |
14/25 |
- |
1 |
9-5073699-CT-C |
c.1781del |
p.F594Sfs*7 |
Frameshift |
14/25 |
- |
1 |
9-5073699-CTTTCT-C |
c.1781_1785del |
p.F594* |
Frameshift |
14/25 |
- |
1 |
9-5073702-T-G |
c.1781T>G |
p.F594C |
Missense |
14/25 |
- |
1 |
9-5073703-C-A |
c.1782C>A |
p.F594L |
Missense |
14/25 |
- |
1 |
9-5073703-C-T |
c.1782C>T |
p.F594= |
Synonymous |
14/25 |
- |
1 |
9-5073704-T-A |
c.1783T>A |
p.F595I |
Missense |
14/25 |
- |
1 |
9-5073704-T-C |
c.1783T>C |
p.F595L |
Missense |
14/25 |
- |
2 |
9-5073704-T-G |
c.1783T>G |
p.F595V |
Missense |
14/25 |
- |
1 |
9-5073704-TT-GC |
c.1783_1784delinsGC |
p.F595A |
Missense |
14/25 |
- |
8 |
9-5073704-TTT-AAG |
c.1783_1785delinsAAG |
p.F595K |
Missense |
14/25 |
- |
1 |
9-5073706-T-A |
c.1785T>A |
p.F595L |
Missense |
14/25 |
- |
2 |
9-5073706-T-G |
c.1785T>G |
p.F595L |
Missense |
14/25 |
- |
2 |
9-5073705-T-A |
c.1784T>A |
p.F595Y |
Missense |
14/25 |
- |
1 |
9-5073705-T-C |
c.1784T>C |
p.F595S |
Missense |
14/25 |
- |
1 |
9-5073705-TT-AA |
c.1784_1785inv |
p.F595* |
Nonsense |
14/25 |
- |
1 |
9-5073705-TT-GG |
c.1784_1785delinsGG |
p.F595W |
Missense |
14/25 |
- |
1 |
9-5073703-C-CT |
c.1785dup |
p.E596* |
Nonsense |
14/25 |
- |
1 |
9-5073703-CT-C |
c.1785del |
p.F595Lfs*6 |
Frameshift |
14/25 |
- |
1 |
9-5073707-G-A |
c.1786G>A |
p.E596K |
Missense |
14/25 |
- |
4 |
9-5073707-GA-AG |
c.1786_1787delinsAG |
p.E596R |
Missense |
14/25 |
- |
5 |
9-5073707-G-C |
c.1786G>C |
p.E596Q |
Missense |
14/25 |
- |
1 |
9-5073707-G-T |
c.1786G>T |
p.E596* |
Nonsense |
14/25 |
- |
2 |
9-5073708-A-C |
c.1787A>C |
p.E596A |
Missense |
14/25 |
- |
2 |
9-5073709-A-C |
c.1788A>C |
p.E596D |
Missense |
14/25 |
- |
1 |
9-5073709-A-T |
c.1788A>T |
p.E596D |
Missense |
14/25 |
- |
1 |
9-5073710-G-A |
c.1789G>A |
p.A597T |
Missense |
14/25 |
- |
1 |
9-5073710-G-AAGA |
c.1789delinsAAGA |
p.A597delinsKT |
MultiAAMissense |
14/25 |
- |
1 |
9-5073710-G-C |
c.1789G>C |
p.A597P |
Missense |
14/25 |
- |
2 |
9-5073710-G-T |
c.1789G>T |
p.A597S |
Missense |
14/25 |
- |
1 |
9-5073711-C-T |
c.1790C>T |
p.A597V |
Missense |
14/25 |
- |
1 |
9-5073713-G-A |
c.1792G>A |
p.A598T |
Missense |
14/25 |
- |
1 |
9-5073713-G-C |
c.1792G>C |
p.A598P |
Missense |
14/25 |
- |
1 |
9-5073713-G-GT |
c.1792_1793insT |
p.A598Vfs*45 |
Frameshift |
14/25 |
- |
1 |
9-5073713-G-T |
c.1792G>T |
p.A598S |
Missense |
14/25 |
- |
1 |
9-5073714-C-A |
c.1793C>A |
p.A598E |
Missense |
14/25 |
- |
1 |
9-5073715-A-C |
c.1794A>C |
p.A598= |
Synonymous |
14/25 |
- |
1 |
9-5073715-A-G |
c.1794A>G |
p.A598= |
Synonymous |
14/25 |
- |
1 |
9-5073715-A-T |
c.1794A>T |
p.A598= |
Synonymous |
14/25 |
- |
1 |
9-5073717-G-A |
c.1796G>A |
p.S599N |
Missense |
14/25 |
- |
1 |
9-5073717-G-T |
c.1796G>T |
p.S599I |
Missense |
14/25 |
- |
6 |
9-5073716-A-C |
c.1795A>C |
p.S599R |
Missense |
14/25 |
- |
1 |
9-5073718-T-A |
c.1797T>A |
p.S599R |
Missense |
14/25 |
- |
2 |
9-5073718-T-C |
c.1797T>C |
p.S599= |
Synonymous |
14/25 |
- |
1 |
9-5073718-T-G |
c.1797T>G |
p.S599R |
Missense |
14/25 |
- |
2 |
9-5073719-A-C |
c.1798A>C |
p.M600L |
Missense |
14/25 |
- |
2 |
9-5073719-A-G |
c.1798A>G |
p.M600V |
Missense |
14/25 |
- |
1 |
9-5073719-A-T |
c.1798A>T |
p.M600L |
Missense |
14/25 |
- |
1 |
9-5073720-T-G |
c.1799T>G |
p.M600R |
Missense |
14/25 |
- |
1 |
9-5073722-A-T |
c.1801A>T |
p.M601L |
Missense |
14/25 |
- |
1 |
9-5073726-G-T |
c.1805G>T |
p.S602I |
Missense |
14/25 |
- |
1 |
9-5073727-C-A |
c.1806C>A |
p.S602R |
Missense |
14/25 |
- |
1 |
9-5073727-C-T |
c.1806C>T |
p.S602= |
Synonymous |
14/25 |
- |
1 |
9-5073728-A-C |
c.1807A>C |
p.K603Q |
Missense |
14/25 |
- |
3 |
9-5073728-A-T |
c.1807A>T |
p.K603* |
Nonsense |
14/25 |
- |
1 |
9-5073730-G-A |
c.1809G>A |
p.K603= |
Synonymous |
14/25 |
- |
1 |
9-5073730-G-C |
c.1809G>C |
p.K603N |
Missense |
14/25 |
- |
1 |
9-5073731-C-A |
c.1810C>A |
p.L604I |
Missense |
14/25 |
- |
2 |
9-5073732-T-A |
c.1811T>A |
p.L604H |
Missense |
14/25 |
- |
1 |
9-5073732-T-C |
c.1811T>C |
p.L604P |
Missense |
14/25 |
- |
3 |
9-5073731-CT-C |
c.1813del |
p.S605Lfs*7 |
Frameshift |
14/25 |
- |
1 |
9-5073734-TC-CG |
c.1813_1814delinsCG |
p.S605R |
Missense |
14/25 |
- |
1 |
9-5073734-T-G |
c.1813T>G |
p.S605A |
Missense |
14/25 |
- |
1 |
9-5073735-C-A |
c.1814C>A |
p.S605Y |
Missense |
14/25 |
- |
2 |
9-5073735-C-T |
c.1814C>T |
p.S605F |
Missense |
14/25 |
- |
2 |
9-5073737-C-A |
c.1816C>A |
p.H606N |
Missense |
14/25 |
- |
1 |
9-5073737-C-T |
c.1816C>T |
p.H606Y |
Missense |
14/25 |
- |
3 |
9-5073739-C-A |
c.1818C>A |
p.H606Q |
Missense |
14/25 |
- |
10 |
9-5073739-C-G |
c.1818C>G |
p.H606Q |
Missense |
14/25 |
- |
7 |
9-5073740-A-G |
c.1819A>G |
p.K607E |
Missense |
14/25 |
- |
1 |
9-5073740-A-T |
c.1819A>T |
p.K607* |
Nonsense |
14/25 |
- |
3 |
9-5073741-A-G |
c.1820A>G |
p.K607R |
Missense |
14/25 |
- |
1 |
9-5073742-G-C |
c.1821G>C |
p.K607N |
Missense |
14/25 |
- |
20 |
9-5073742-G-GT |
c.1821_1822insT |
p.H608Sfs*35 |
Frameshift |
14/25 |
- |
1 |
9-5073742-G-T |
c.1821G>T |
p.K607N |
Missense |
14/25 |
- |
11 |
9-5073743-C-A |
c.1822C>A |
p.H608N |
Missense |
14/25 |
- |
10 |
9-5073743-C-G |
c.1822C>G |
p.H608D |
Missense |
14/25 |
- |
1 |
9-5073743-C-T |
c.1822C>T |
p.H608Y |
Missense |
14/25 |
- |
4 |
9-5073744-A-C |
c.1823A>C |
p.H608P |
Missense |
14/25 |
- |
1 |
9-5073744-A-G |
c.1823A>G |
p.H608R |
Missense |
14/25 |
- |
1 |
9-5073745-T-A |
c.1824T>A |
p.H608Q |
Missense |
14/25 |
- |
1 |
9-5073744-AT-A |
c.1826del |
p.L609Wfs*3 |
Frameshift |
14/25 |
- |
1 |
9-5073747-T-C |
c.1826T>C |
p.L609S |
Missense |
14/25 |
- |
4 |
9-5073748-G-T |
c.1827G>T |
p.L609F |
Missense |
14/25 |
- |
1 |
9-5073749-G-A |
c.1828G>A |
p.V610I |
Missense |
14/25 |
- |
1 |
9-5073749-G-C |
c.1828G>C |
p.V610L |
Missense |
14/25 |
- |
1 |
9-5073749-G-T |
c.1828G>T |
p.V610F |
Missense |
14/25 |
- |
1 |
9-5073750-T-G |
c.1829T>G |
p.V610G |
Missense |
14/25 |
- |
1 |
9-5073752-T-A |
c.1831T>A |
p.L611I |
Missense |
14/25 |
- |
1 |
9-5073752-T-G |
c.1831T>G |
p.L611V |
Missense |
14/25 |
- |
15 |
9-5073749-G-GT |
c.1832dup |
p.L611Ffs*32 |
Frameshift |
14/25 |
- |
1 |
9-5073749-GT-G |
c.1832del |
p.L611* |
Frameshift |
14/25 |
- |
2 |
9-5073753-T-C |
c.1832T>C |
p.L611S |
Missense |
14/25 |
- |
36 |
9-5073755-A-T |
c.1834A>T |
p.N612Y |
Missense |
14/25 |
- |
1 |
9-5073753-TA-T |
c.1835del |
p.N612Ifs*18 |
Frameshift |
14/25 |
- |
1 |
9-5073756-A-G |
c.1835A>G |
p.N612S |
Missense |
14/25 |
- |
1 |
9-5073756-A-AT |
c.1837dup |
p.Y613Lfs*30 |
Frameshift |
14/25 |
- |
1 |
9-5073758-TAT-GAG |
c.1837_1839delinsGAG |
p.Y613E |
Missense |
14/25 |
- |
4 |
9-5073759-A-G |
c.1838A>G |
p.Y613C |
Missense |
14/25 |
- |
4 |
9-5073759-A-T |
c.1838A>T |
p.Y613F |
Missense |
14/25 |
- |
5 |
9-5073760-T-C |
c.1839T>C |
p.Y613= |
Synonymous |
14/25 |
- |
1 |
9-5073761-G-T |
c.1840G>T |
p.G614* |
Nonsense |
14/25 |
- |
1 |
9-5073762-G-T |
c.1841G>T |
p.G614V |
Missense |
14/25 |
- |
4 |
9-5073763-A-AT |
c.1842_1843insT |
p.V615Cfs*28 |
Frameshift |
14/25 |
- |
1 |
9-5073764-G-A |
c.1843G>A |
p.V615I |
Missense |
14/25 |
- |
1 |
9-5073764-G-C |
c.1843G>C |
p.V615L |
Missense |
14/25 |
- |
6 |
9-5073764-G-T |
c.1843G>T |
p.V615L |
Missense |
14/25 |
- |
7 |
9-5073764-GTA-TTT |
c.1843_1845delinsTTT |
p.V615F |
Missense |
14/25 |
- |
1 |
9-5073768-G-A |
c.1847G>A |
p.C616Y |
Missense |
14/25 |
- |
8 |
9-5073768-G-T |
c.1847G>T |
p.C616F |
Missense |
14/25 |
- |
1 |
9-5073769-T-C |
c.1848T>C |
p.C616= |
Synonymous |
14/25 |
- |
1 |
9-5073770-G-A |
c.1849G>A |
p.V617I |
Missense |
14/25 |
- |
61 |
9-5073770-G-C |
c.1849G>C |
p.V617L |
Missense |
14/25 |
- |
5 |
9-5073770-G-T |
c.1849G>T |
p.V617F |
Missense |
14/25 |
- |
3720 |
9-5073770-GT-AC |
c.1849_1850inv |
p.V617T |
Missense |
14/25 |
- |
1 |
9-5073770-GTC-AAG |
c.1849_1851delinsAAG |
p.V617K |
Missense |
14/25 |
- |
2 |
9-5073770-GTC-ATG |
c.1849_1851delinsATG |
p.V617M |
Missense |
14/25 |
- |
1 |
9-5073770-GT-CC |
c.1849_1850delinsCC |
p.V617P |
Missense |
14/25 |
- |
2 |
9-5073770-GTC-TAA |
c.1849_1851delinsTAA |
p.V617* |
Nonsense |
14/25 |
- |
1 |
9-5073770-GTC-TGG |
c.1849_1851delinsTGG |
p.V617W |
Missense |
14/25 |
- |
1 |
9-5073770-GT-TA |
c.1849_1850delinsTA |
p.V617Y |
Missense |
14/25 |
- |
1 |
9-5073770-GT-TG |
c.1849_1850delinsTG |
p.V617C |
Missense |
14/25 |
- |
1 |
9-5073771-T-A |
c.1850T>A |
p.V617D |
Missense |
14/25 |
- |
2 |
9-5073771-T-C |
c.1850T>C |
p.V617A |
Missense |
14/25 |
- |
4 |
9-5073771-TC-AG |
c.1850_1851delinsAG |
p.V617E |
Missense |
14/25 |
- |
2 |
9-5073771-T-G |
c.1850T>G |
p.V617G |
Missense |
14/25 |
- |
1 |
9-5073770-GTC-G |
c.1851_1852del |
p.C618Wfs*24 |
Frameshift |
14/25 |
- |
1 |
9-5073772-C-A |
c.1851C>A |
p.V617= |
Synonymous |
14/25 |
- |
15 |
9-5073772-C-G |
c.1851C>G |
p.V617= |
Synonymous |
14/25 |
- |
14 |
9-5073772-C-T |
c.1851C>T |
p.V617= |
Synonymous |
14/25 |
- |
14 |
9-5073773-T-C |
c.1852T>C |
p.C618R |
Missense |
14/25 |
- |
18 |
9-5073773-TG-CT |
c.1852_1853delinsCT |
p.C618L |
Missense |
14/25 |
- |
1 |
9-5073773-TGT-GGTGTA |
c.1852_1854delinsGGTGTA |
p.C618delinsGV |
MultiAAMissense |
14/25 |
- |
1 |
9-5073774-G-A |
c.1853G>A |
p.C618Y |
Missense |
14/25 |
- |
3 |
9-5073774-G-T |
c.1853G>T |
p.C618F |
Missense |
14/25 |
- |
3 |
9-5073776-G-A |
c.1855G>A |
p.G619R |
Missense |
14/25 |
- |
1 |
9-5073776-G-C |
c.1855G>C |
p.G619R |
Missense |
14/25 |
- |
1 |
9-5073776-G-T |
c.1855G>T |
p.G619* |
Nonsense |
14/25 |
- |
2 |
9-5073777-G-A |
c.1856G>A |
p.G619E |
Missense |
14/25 |
- |
1 |
9-5073777-G-C |
c.1856G>C |
p.G619A |
Missense |
14/25 |
- |
1 |
9-5073780-A-G |
c.1859A>G |
p.D620G |
Missense |
14/25 |
- |
1 |
9-5073781-AC-A |
c.1860del |
p.D620Efs*10 |
Frameshift |
14/25 |
- |
1 |
9-5073781-C-A |
c.1860C>A |
p.D620E |
Missense |
14/25 |
- |
19 |
9-5073781-C-G |
c.1860C>G |
p.D620E |
Missense |
14/25 |
- |
9 |
9-5073782-G-A |
c.1861G>A |
p.E621K |
Missense |
14/25 |
- |
9 |
9-5073782-G-T |
c.1861G>T |
p.E621* |
Nonsense |
14/25 |
- |
2 |
9-5073784-G-C |
c.1863G>C |
p.E621D |
Missense |
14/25 |
- |
2 |
9-5073784-G-T |
c.1863G>T |
p.E621D |
Missense |
14/25 |
- |
3 |
9-5073790-G-A |
c.1864+5G>A |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5073792-A-G |
c.1864+7A>G |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5073798-A-G |
c.1864+13A>G |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5073982-T-A |
c.1864+197T>A |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5074189-T-C |
c.1864+404T>C |
- |
IntronicSNV |
- |
14/24 |
40 |
9-5074225-T-G |
c.1864+440T>G |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5074326-T-A |
c.1864+541T>A |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5075025-C-A |
c.1864+1240C>A |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5075115-G-A |
c.1864+1330G>A |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5075255-C-G |
c.1864+1470C>G |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5075255-C-T |
c.1864+1470C>T |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5075370-C-G |
c.1864+1585C>G |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5075603-C-T |
c.1864+1818C>T |
- |
IntronicSNV |
- |
14/24 |
2 |
9-5075628-C-G |
c.1865-1825C>G |
- |
IntronicSNV |
- |
14/24 |
3 |
9-5076399-T-C |
c.1865-1054T>C |
- |
IntronicSNV |
- |
14/24 |
2 |
9-5076399-T-G |
c.1865-1054T>G |
- |
IntronicSNV |
- |
14/24 |
2 |
9-5076613-G-C |
c.1865-840G>C |
- |
IntronicSNV |
- |
14/24 |
5 |
9-5076690-C-A |
c.1865-763C>A |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5076690-C-T |
c.1865-763C>T |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5076691-C-A |
c.1865-762C>A |
- |
IntronicSNV |
- |
14/24 |
19 |
9-5076691-C-G |
c.1865-762C>G |
- |
IntronicSNV |
- |
14/24 |
19 |
9-5076946-A-T |
c.1865-507A>T |
- |
IntronicSNV |
- |
14/24 |
2 |
9-5076970-C-T |
c.1865-483C>T |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5077174-G-GT |
c.1865-278dup |
- |
IntronicInsertion |
- |
14/24 |
1 |
9-5077354-T-A |
c.1865-99T>A |
- |
IntronicSNV |
- |
14/24 |
1 |
9-5077453-A-C |
c.1865A>C |
p.N622T |
Missense |
15/25 |
- |
1 |
9-5077453-A-T |
c.1865A>T |
p.N622I |
Missense |
15/25 |
- |
6 |
9-5077454-T-C |
c.1866T>C |
p.N622= |
Synonymous |
15/25 |
- |
1 |
9-5077456-T-C |
c.1868T>C |
p.I623T |
Missense |
15/25 |
- |
1 |
9-5077459-T-A |
c.1871T>A |
p.L624Q |
Missense |
15/25 |
- |
1 |
9-5077459-T-C |
c.1871T>C |
p.L624P |
Missense |
15/25 |
- |
5 |
9-5077461-GGT-G |
c.1873_1874del |
p.V625Sfs*17 |
Frameshift |
15/25 |
- |
1 |
9-5077461-G-T |
c.1873G>T |
p.V625F |
Missense |
15/25 |
- |
15 |
9-5077466-G-A |
c.1878G>A |
p.Q626= |
Synonymous |
15/25 |
- |
1 |
9-5077467-G-A |
c.1879G>A |
p.E627K |
Missense |
15/25 |
- |
3 |
9-5077468-A-C |
c.1880A>C |
p.E627A |
Missense |
15/25 |
- |
3 |
9-5077468-A-G |
c.1880A>G |
p.E627G |
Missense |
15/25 |
- |
1 |
9-5077468-GA-G |
c.1880del |
p.E627Gfs*3 |
Frameshift |
15/25 |
- |
1 |
9-5077469-G-A |
c.1881G>A |
p.E627= |
Synonymous |
15/25 |
- |
5 |
9-5077469-G-C |
c.1881G>C |
p.E627D |
Missense |
15/25 |
- |
1 |
9-5077469-G-T |
c.1881G>T |
p.E627D |
Missense |
15/25 |
- |
2 |
9-5077470-T-C |
c.1882T>C |
p.F628L |
Missense |
15/25 |
- |
1 |
9-5077472-T-A |
c.1884T>A |
p.F628L |
Missense |
15/25 |
- |
1 |
9-5077472-T-G |
c.1884T>G |
p.F628L |
Missense |
15/25 |
- |
1 |
9-5077476-AA-GC |
c.1888_1889delinsGC |
p.K630A |
Missense |
15/25 |
- |
1 |
9-5077476-AA-GG |
c.1888_1889delinsGG |
p.K630G |
Missense |
15/25 |
- |
1 |
9-5077476-A-C |
c.1888A>C |
p.K630Q |
Missense |
15/25 |
- |
1 |
9-5077479-T-C |
c.1891T>C |
p.F631L |
Missense |
15/25 |
- |
1 |
9-5077479-TT-GG |
c.1891_1892delinsGG |
p.F631G |
Missense |
15/25 |
- |
1 |
9-5077481-T-A |
c.1893T>A |
p.F631L |
Missense |
15/25 |
- |
1 |
9-5077481-T-G |
c.1893T>G |
p.F631L |
Missense |
15/25 |
- |
1 |
9-5077482-G-A |
c.1894G>A |
p.G632R |
Missense |
15/25 |
- |
2 |
9-5077483-G-A |
c.1895G>A |
p.G632E |
Missense |
15/25 |
- |
1 |
9-5077484-A-C |
c.1896A>C |
p.G632= |
Synonymous |
15/25 |
- |
1 |
9-5077485-T-A |
c.1897T>A |
p.S633T |
Missense |
15/25 |
- |
1 |
9-5077485-T-G |
c.1897T>G |
p.S633A |
Missense |
15/25 |
- |
2 |
9-5077486-C-T |
c.1898C>T |
p.S633L |
Missense |
15/25 |
- |
1 |
9-5077486-CACTAGATACATATCTGAAAAAGA-C |
c.1900_1922del |
p.L634* |
Frameshift |
15/25 |
- |
1 |
9-5077488-C-T |
c.1900C>T |
p.L634= |
Synonymous |
15/25 |
- |
1 |
9-5077489-T-C |
c.1901T>C |
p.L634P |
Missense |
15/25 |
- |
3 |
9-5077490-A-G |
c.1902A>G |
p.L634= |
Synonymous |
15/25 |
- |
1 |
9-5077491-G-A |
c.1903G>A |
p.D635N |
Missense |
15/25 |
- |
1 |
9-5077491-G-T |
c.1903G>T |
p.D635Y |
Missense |
15/25 |
- |
1 |
9-5077496-A-G |
c.1908A>G |
p.T636= |
Synonymous |
15/25 |
- |
1 |
9-5077497-TAT-GAG |
c.1909_1911delinsGAG |
p.Y637E |
Missense |
15/25 |
- |
1 |
9-5077498-A-T |
c.1910A>T |
p.Y637F |
Missense |
15/25 |
- |
1 |
9-5077499-T-C |
c.1911T>C |
p.Y637= |
Synonymous |
15/25 |
- |
1 |
9-5077500-C-A |
c.1912C>A |
p.L638M |
Missense |
15/25 |
- |
1 |
9-5077500-C-T |
c.1912C>T |
p.L638= |
Synonymous |
15/25 |
- |
2 |
9-5077501-T-C |
c.1913T>C |
p.L638P |
Missense |
15/25 |
- |
1 |
9-5077505-A-G |
c.1917A>G |
p.K639= |
Synonymous |
15/25 |
- |
1 |
9-5077502-GA-G |
c.1919del |
p.K640Rfs*6 |
Frameshift |
15/25 |
- |
1 |
9-5077508-G-A |
c.1920G>A |
p.K640= |
Synonymous |
15/25 |
- |
1 |
9-5077508-G-C |
c.1920G>C |
p.K640N |
Missense |
15/25 |
- |
4 |
9-5077508-G-T |
c.1920G>T |
p.K640N |
Missense |
15/25 |
- |
3 |
9-5077509-A-C |
c.1921A>C |
p.N641H |
Missense |
15/25 |
- |
1 |
9-5077511-AT-A |
c.1923del |
p.N641Kfs*5 |
Frameshift |
15/25 |
- |
1 |
9-5077511-T-C |
c.1923T>C |
p.N641= |
Synonymous |
15/25 |
- |
1 |
9-5077512-A-C |
c.1924A>C |
p.K642Q |
Missense |
15/25 |
- |
1 |
9-5077512-A-G |
c.1924A>G |
p.K642E |
Missense |
15/25 |
- |
1 |
9-5077513-A-C |
c.1925A>C |
p.K642T |
Missense |
15/25 |
- |
1 |
9-5077514-A-C |
c.1926A>C |
p.K642N |
Missense |
15/25 |
- |
1 |
9-5077514-A-G |
c.1926A>G |
p.K642= |
Synonymous |
15/25 |
- |
1 |
9-5077514-A-T |
c.1926A>T |
p.K642N |
Missense |
15/25 |
- |
1 |
9-5077515-A-C |
c.1927A>C |
p.N643H |
Missense |
15/25 |
- |
1 |
9-5077511-T-TA |
c.1928dup |
p.N643Kfs*10 |
Frameshift |
15/25 |
- |
1 |
9-5077517-T-C |
c.1929T>C |
p.N643= |
Synonymous |
15/25 |
- |
4 |
9-5077518-T-A |
c.1930T>A |
p.C644S |
Missense |
15/25 |
- |
1 |
9-5077521-A-G |
c.1933A>G |
p.I645V |
Missense |
15/25 |
- |
4 |
9-5077520-TATAAATATATTATGGAAACTTGAAGTTGCTAAACAGTTGGCATGGGCC-T |
c.1935_1982del |
p.I645_A660del |
InFrameDeletion |
15/25 |
- |
1 |
9-5077523-A-AT |
c.1935_1936insT |
p.N646* |
Nonsense |
15/25 |
- |
2 |
9-5077524-A-C |
c.1936A>C |
p.N646H |
Missense |
15/25 |
- |
2 |
9-5077524-A-G |
c.1936A>G |
p.N646D |
Missense |
15/25 |
- |
1 |
9-5077522-TA-T |
c.1937del |
p.N646Ifs*19 |
Frameshift |
15/25 |
- |
2 |
9-5077525-A-G |
c.1937A>G |
p.N646S |
Missense |
15/25 |
- |
1 |
9-5077525-A-T |
c.1937A>T |
p.N646I |
Missense |
15/25 |
- |
1 |
9-5077528-T-C |
c.1940T>C |
p.I647T |
Missense |
15/25 |
- |
1 |
9-5077524-AAT-A |
c.1941_1942del |
p.L648Mfs*4 |
Frameshift |
15/25 |
- |
1 |
9-5077529-A-G |
c.1941A>G |
p.I647M |
Missense |
15/25 |
- |
2 |
9-5077530-TT-CC |
c.1942_1943delinsCC |
p.L648P |
Missense |
15/25 |
- |
1 |
9-5077531-T-C |
c.1943T>C |
p.L648S |
Missense |
15/25 |
- |
1 |
9-5077535-G-A |
c.1947G>A |
p.W649* |
Nonsense |
15/25 |
- |
4 |
9-5077536-A-C |
c.1948A>C |
p.K650Q |
Missense |
15/25 |
- |
2 |
9-5077536-A-G |
c.1948A>G |
p.K650E |
Missense |
15/25 |
- |
4 |
9-5077536-A-T |
c.1948A>T |
p.K650* |
Nonsense |
15/25 |
- |
3 |
9-5077537-AA-TG |
c.1949_1950delinsTG |
p.K650M |
Missense |
15/25 |
- |
2 |
9-5077537-A-C |
c.1949A>C |
p.K650T |
Missense |
15/25 |
- |
2 |
9-5077539-C-T |
c.1951C>T |
p.L651F |
Missense |
15/25 |
- |
2 |
9-5077540-CTTG-C |
c.1952_1954del |
p.L651_E652delinsQ |
MultiAAMissense |
15/25 |
- |
1 |
9-5077540-T-G |
c.1952T>G |
p.L651R |
Missense |
15/25 |
- |
1 |
9-5077543-A-G |
c.1955A>G |
p.E652G |
Missense |
15/25 |
- |
1 |
9-5077544-A-G |
c.1956A>G |
p.E652= |
Synonymous |
15/25 |
- |
1 |
9-5077545-G-A |
c.1957G>A |
p.V653I |
Missense |
15/25 |
- |
1 |
9-5077546-T-G |
c.1958T>G |
p.V653G |
Missense |
15/25 |
- |
1 |
9-5077547-T-G |
c.1959T>G |
p.V653= |
Synonymous |
15/25 |
- |
1 |
9-5077551-A-T |
c.1963A>T |
p.K655* |
Nonsense |
15/25 |
- |
1 |
9-5077552-AA-TG |
c.1964_1965delinsTG |
p.K655M |
Missense |
15/25 |
- |
1 |
9-5077554-C-A |
c.1966C>A |
p.Q656K |
Missense |
15/25 |
- |
1 |
9-5077554-C-T |
c.1966C>T |
p.Q656* |
Nonsense |
15/25 |
- |
1 |
9-5077557-T-C |
c.1969T>C |
p.L657= |
Synonymous |
15/25 |
- |
1 |
9-5077559-G-A |
c.1971G>A |
p.L657= |
Synonymous |
15/25 |
- |
1 |
9-5077558-T-C |
c.1970T>C |
p.L657S |
Missense |
15/25 |
- |
1 |
9-5077560-G-A |
c.1972G>A |
p.A658T |
Missense |
15/25 |
- |
2 |
9-5077560-G-T |
c.1972G>T |
p.A658S |
Missense |
15/25 |
- |
2 |
9-5077563-T-C |
c.1975T>C |
p.W659R |
Missense |
15/25 |
- |
3 |
9-5077563-TG-GC |
c.1975_1976delinsGC |
p.W659A |
Missense |
15/25 |
- |
5 |
9-5077564-G-A |
c.1976G>A |
p.W659* |
Nonsense |
15/25 |
- |
1 |
9-5077564-G-C |
c.1976G>C |
p.W659S |
Missense |
15/25 |
- |
1 |
9-5077564-G-T |
c.1976G>T |
p.W659L |
Missense |
15/25 |
- |
1 |
9-5077565-G-A |
c.1977G>A |
p.W659* |
Nonsense |
15/25 |
- |
1 |
9-5077565-G-T |
c.1977G>T |
p.W659C |
Missense |
15/25 |
- |
1 |
9-5077566-G-A |
c.1978G>A |
p.A660T |
Missense |
15/25 |
- |
1 |
9-5077567-C-G |
c.1979C>G |
p.A660G |
Missense |
15/25 |
- |
1 |
9-5077567-C-T |
c.1979C>T |
p.A660V |
Missense |
15/25 |
- |
1 |
9-5077569-A-C |
c.1981A>C |
p.M661L |
Missense |
15/25 |
- |
1 |
9-5077569-A-G |
c.1981A>G |
p.M661V |
Missense |
15/25 |
- |
1 |
9-5077569-A-T |
c.1981A>T |
p.M661L |
Missense |
15/25 |
- |
1 |
9-5077571-G-C |
c.1983G>C |
p.M661I |
Missense |
15/25 |
- |
1 |
9-5077574-T-A |
c.1986T>A |
p.H662Q |
Missense |
15/25 |
- |
2 |
9-5077574-T-G |
c.1986T>G |
p.H662Q |
Missense |
15/25 |
- |
2 |
9-5077579-T-C |
c.1991T>C |
p.L664P |
Missense |
15/25 |
- |
1 |
9-5077584-A-G |
c.1992+4A>G |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5077603-C-G |
c.1992+23C>G |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5077615-T-C |
c.1992+35T>C |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5077653-G-A |
c.1992+73G>A |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5077658-C-A |
c.1992+78C>A |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5077670-C-A |
c.1992+90C>A |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5078046-G-C |
c.1993-260G>C |
- |
IntronicSNV |
- |
15/24 |
2 |
9-5078117-T-C |
c.1993-189T>C |
- |
IntronicSNV |
- |
15/24 |
16 |
9-5078201-A-G |
c.1993-105A>G |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5078201-A-T |
c.1993-105A>T |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5078284-T-C |
c.1993-22T>C |
- |
IntronicSNV |
- |
15/24 |
1 |
9-5078306-G-A |
c.1993G>A |
p.E665K |
Missense |
16/25 |
- |
2 |
9-5078306-G-T |
c.1993G>T |
p.E665* |
Nonsense |
16/25 |
- |
4 |
9-5078309-G-A |
c.1996G>A |
p.E666K |
Missense |
16/25 |
- |
1 |
9-5078309-GA-AG |
c.1996_1997delinsAG |
p.E666R |
Missense |
16/25 |
- |
1 |
9-5078309-G-T |
c.1996G>T |
p.E666* |
Nonsense |
16/25 |
- |
1 |
9-5078310-A-C |
c.1997A>C |
p.E666A |
Missense |
16/25 |
- |
1 |
9-5078310-A-G |
c.1997A>G |
p.E666G |
Missense |
16/25 |
- |
1 |
9-5078311-A-C |
c.1998A>C |
p.E666D |
Missense |
16/25 |
- |
1 |
9-5078313-A-G |
c.2000A>G |
p.N667S |
Missense |
16/25 |
- |
1 |
9-5078314-C-A |
c.2001C>A |
p.N667K |
Missense |
16/25 |
- |
1 |
9-5078314-C-G |
c.2001C>G |
p.N667K |
Missense |
16/25 |
- |
2 |
9-5078315-A-C |
c.2002A>C |
p.T668P |
Missense |
16/25 |
- |
1 |
9-5078316-C-A |
c.2003C>A |
p.T668N |
Missense |
16/25 |
- |
1 |
9-5078316-C-T |
c.2003C>T |
p.T668I |
Missense |
16/25 |
- |
1 |
9-5078317-C-T |
c.2004C>T |
p.T668= |
Synonymous |
16/25 |
- |
2 |
9-5078318-C-T |
c.2005C>T |
p.L669F |
Missense |
16/25 |
- |
2 |
9-5078321-A-G |
c.2008A>G |
p.I670V |
Missense |
16/25 |
- |
2 |
9-5078324-C-T |
c.2011C>T |
p.H671Y |
Missense |
16/25 |
- |
1 |
9-5078325-A-G |
c.2012A>G |
p.H671R |
Missense |
16/25 |
- |
1 |
9-5078327-GGG-A |
c.2014_2016delinsA |
p.G672Kfs*26 |
Frameshift |
16/25 |
- |
1 |
9-5078328-G-A |
c.2015G>A |
p.G672E |
Missense |
16/25 |
- |
1 |
9-5078329-G-A |
c.2016G>A |
p.G672= |
Synonymous |
16/25 |
- |
1 |
9-5078329-G-C |
c.2016G>C |
p.G672= |
Synonymous |
16/25 |
- |
1 |
9-5078329-G-T |
c.2016G>T |
p.G672= |
Synonymous |
16/25 |
- |
1 |
9-5078330-A-G |
c.2017A>G |
p.N673D |
Missense |
16/25 |
- |
1 |
9-5078331-A-T |
c.2018A>T |
p.N673I |
Missense |
16/25 |
- |
1 |
9-5078333-GTA-ATG |
c.2020_2022delinsATG |
p.V674M |
Missense |
16/25 |
- |
2 |
9-5078334-T-A |
c.2021T>A |
p.V674E |
Missense |
16/25 |
- |
1 |
9-5078334-T-C |
c.2021T>C |
p.V674A |
Missense |
16/25 |
- |
1 |
9-5078338-T-A |
c.2025T>A |
p.C675* |
Nonsense |
16/25 |
- |
1 |
9-5078338-T-C |
c.2025T>C |
p.C675= |
Synonymous |
16/25 |
- |
1 |
9-5078338-T-G |
c.2025T>G |
p.C675W |
Missense |
16/25 |
- |
2 |
9-5078340-C-A |
c.2027C>A |
p.A676D |
Missense |
16/25 |
- |
1 |
9-5078340-C-T |
c.2027C>T |
p.A676V |
Missense |
16/25 |
- |
2 |
9-5078342-A-G |
c.2029A>G |
p.K677E |
Missense |
16/25 |
- |
2 |
9-5078344-A-AT |
c.2031_2032insT |
p.N678* |
Nonsense |
16/25 |
- |
1 |
9-5078344-A-C |
c.2031A>C |
p.K677N |
Missense |
16/25 |
- |
1 |
9-5078344-A-T |
c.2031A>T |
p.K677N |
Missense |
16/25 |
- |
1 |
9-5078345-AA-GC |
c.2032_2033delinsGC |
p.N678A |
Missense |
16/25 |
- |
2 |
9-5078348-A-G |
c.2035A>G |
p.I679V |
Missense |
16/25 |
- |
2 |
9-5078351-C-A |
c.2038C>A |
p.L680M |
Missense |
16/25 |
- |
1 |
9-5078351-CT-GC |
c.2038_2039delinsGC |
p.L680A |
Missense |
16/25 |
- |
1 |
9-5078351-TCTGCTTATCAGAGAA-T |
c.2038_2052del |
p.L680_E684del |
InFrameDeletion |
16/25 |
- |
1 |
9-5078352-T-C |
c.2039T>C |
p.L680P |
Missense |
16/25 |
- |
1 |
9-5078353-G-A |
c.2040G>A |
p.L680= |
Synonymous |
16/25 |
- |
1 |
9-5078354-C-A |
c.2041C>A |
p.L681I |
Missense |
16/25 |
- |
1 |
9-5078354-C-T |
c.2041C>T |
p.L681F |
Missense |
16/25 |
- |
2 |
9-5078355-T-TTGG |
c.2043_2044insGGT |
p.L681_I682insG |
InFrameInsertion |
16/25 |
- |
1 |
9-5078356-T-A |
c.2043T>A |
p.L681= |
Synonymous |
16/25 |
- |
2 |
9-5078356-T-C |
c.2043T>C |
p.L681= |
Synonymous |
16/25 |
- |
2 |
9-5078356-T-G |
c.2043T>G |
p.L681= |
Synonymous |
16/25 |
- |
2 |
9-5078357-A-AGGACCTCCTCCCTCC |
c.2044_2045insGGACCTCCTCCCTCC |
p.I682delinsRTSSLL |
MultiAAMissense |
16/25 |
- |
1 |
9-5078357-A-T |
c.2044A>T |
p.I682F |
Missense |
16/25 |
- |
33 |
9-5078358-TC-CACCTTATGAGGGTATGCCTGGTCAT |
c.2045_2046delinsCACCTTATGAGGGTATGCCTGGTCAT |
p.I682delinsTPYEGMPGH |
MultiAAMissense |
16/25 |
- |
1 |
9-5078356-TATCAGAGAAGAAGAC-T |
c.2045_2059del |
p.I682_D686del |
InFrameDeletion |
16/25 |
- |
1 |
9-5078356-TATC-T |
c.2045_2047del |
p.I682del |
InFrameDeletion |
16/25 |
- |
2 |
9-5078358-T-C |
c.2045T>C |
p.I682T |
Missense |
16/25 |
- |
3 |
9-5078358-TC-AG |
c.2045_2046delinsAG |
p.I682K |
Missense |
16/25 |
- |
2 |
9-5078359-C-CGGTCCT |
c.2046_2047insGGTCCT |
p.I682_R683insGP |
InFrameInsertion |
16/25 |
- |
1 |
9-5078359-C-T |
c.2046C>T |
p.I682= |
Synonymous |
16/25 |
- |
1 |
9-5078360-A-G |
c.2047A>G |
p.R683G |
Missense |
16/25 |
- |
147 |
9-5078360-AGA-TTT |
c.2047_2049delinsTTT |
p.R683F |
Missense |
16/25 |
- |
1 |
9-5078361-AGAG-A |
c.2048_2050del |
p.R683_E684delinsK |
MultiAAMissense |
16/25 |
- |
1 |
9-5078361-G-A |
c.2048G>A |
p.R683K |
Missense |
16/25 |
- |
11 |
9-5078361-G-C |
c.2048G>C |
p.R683T |
Missense |
16/25 |
- |
22 |
9-5078361-G-T |
c.2048G>T |
p.R683I |
Missense |
16/25 |
- |
3 |
9-5078362-A-C |
c.2049A>C |
p.R683S |
Missense |
16/25 |
- |
37 |
9-5078362-A-T |
c.2049A>T |
p.R683S |
Missense |
16/25 |
- |
62 |
9-5078363-GAA-TAT |
c.2050_2052delinsTAT |
p.E684Y |
Missense |
16/25 |
- |
1 |
9-5078363-G-C |
c.2050G>C |
p.E684Q |
Missense |
16/25 |
- |
1 |
9-5078364-A-T |
c.2051A>T |
p.E684V |
Missense |
16/25 |
- |
3 |
9-5078366-G-A |
c.2053G>A |
p.E685K |
Missense |
16/25 |
- |
3 |
9-5078366-G-T |
c.2053G>T |
p.E685* |
Nonsense |
16/25 |
- |
1 |
9-5078361-GAGA-G |
c.2055_2057del |
p.E685del |
InFrameDeletion |
16/25 |
- |
1 |
9-5078369-AGAC-A |
c.2056_2058del |
p.D686del |
InFrameDeletion |
16/25 |
- |
2 |
9-5078369-G-A |
c.2056G>A |
p.D686N |
Missense |
16/25 |
- |
1 |
9-5078372-AG-CA |
c.2059_2060delinsCA |
p.R687Q |
Missense |
16/25 |
- |
6 |
9-5078372-AG-TA |
c.2059_2060delinsTA |
p.R687* |
Nonsense |
16/25 |
- |
1 |
9-5078374-G-A |
c.2061G>A |
p.R687= |
Synonymous |
16/25 |
- |
1 |
9-5078375-A-G |
c.2062A>G |
p.K688E |
Missense |
16/25 |
- |
1 |
9-5078376-A-G |
c.2063A>G |
p.K688R |
Missense |
16/25 |
- |
1 |
9-5078379-C-T |
c.2066C>T |
p.T689I |
Missense |
16/25 |
- |
1 |
9-5078380-A-G |
c.2067A>G |
p.T689= |
Synonymous |
16/25 |
- |
1 |
9-5078382-G-A |
c.2069G>A |
p.G690E |
Missense |
16/25 |
- |
1 |
9-5078382-G-T |
c.2069G>T |
p.G690V |
Missense |
16/25 |
- |
1 |
9-5078384-A-C |
c.2071A>C |
p.N691H |
Missense |
16/25 |
- |
4 |
9-5078385-A-G |
c.2072A>G |
p.N691S |
Missense |
16/25 |
- |
2 |
9-5078386-T-A |
c.2073T>A |
p.N691K |
Missense |
16/25 |
- |
1 |
9-5078386-T-C |
c.2073T>C |
p.N691= |
Synonymous |
16/25 |
- |
1 |
9-5078387-C-G |
c.2074C>G |
p.P692A |
Missense |
16/25 |
- |
1 |
9-5078387-C-T |
c.2074C>T |
p.P692S |
Missense |
16/25 |
- |
2 |
9-5078390-C-A |
c.2077C>A |
p.P693T |
Missense |
16/25 |
- |
1 |
9-5078390-C-G |
c.2077C>G |
p.P693A |
Missense |
16/25 |
- |
1 |
9-5078390-C-T |
c.2077C>T |
p.P693S |
Missense |
16/25 |
- |
2 |
9-5078393-T-C |
c.2080T>C |
p.F694L |
Missense |
16/25 |
- |
23 |
9-5078395-C-A |
c.2082C>A |
p.F694L |
Missense |
16/25 |
- |
21 |
9-5078395-C-G |
c.2082C>G |
p.F694L |
Missense |
16/25 |
- |
22 |
9-5078394-T-C |
c.2081T>C |
p.F694S |
Missense |
16/25 |
- |
6 |
9-5078394-T-G |
c.2081T>G |
p.F694C |
Missense |
16/25 |
- |
1 |
9-5078396-A-G |
c.2083A>G |
p.I695V |
Missense |
16/25 |
- |
4 |
9-5078399-A-C |
c.2086A>C |
p.K696Q |
Missense |
16/25 |
- |
1 |
9-5078400-A-G |
c.2087A>G |
p.K696R |
Missense |
16/25 |
- |
1 |
9-5078401-A-G |
c.2088A>G |
p.K696= |
Synonymous |
16/25 |
- |
1 |
9-5078402-C-T |
c.2089C>T |
p.L697F |
Missense |
16/25 |
- |
1 |
9-5078403-T-A |
c.2090T>A |
p.L697H |
Missense |
16/25 |
- |
1 |
9-5078403-T-G |
c.2090T>G |
p.L697R |
Missense |
16/25 |
- |
3 |
9-5078405-AG-GC |
c.2092_2093delinsGC |
p.S698A |
Missense |
16/25 |
- |
1 |
9-5078405-AG-TT |
c.2092_2093delinsTT |
p.S698F |
Missense |
16/25 |
- |
1 |
9-5078405-A-T |
c.2092A>T |
p.S698C |
Missense |
16/25 |
- |
1 |
9-5078406-G-A |
c.2093G>A |
p.S698N |
Missense |
16/25 |
- |
1 |
9-5078408-G-A |
c.2095G>A |
p.D699N |
Missense |
16/25 |
- |
1 |
9-5078408-GAT-AACAAC |
c.2095_2097delinsAACAAC |
p.D699delinsNN |
MultiAAMissense |
16/25 |
- |
1 |
9-5078408-G-T |
c.2095G>T |
p.D699Y |
Missense |
16/25 |
- |
3 |
9-5078409-A-C |
c.2096A>C |
p.D699A |
Missense |
16/25 |
- |
1 |
9-5078411-C-A |
c.2098C>A |
p.P700T |
Missense |
16/25 |
- |
1 |
9-5078412-C-T |
c.2099C>T |
p.P700L |
Missense |
16/25 |
- |
1 |
9-5078414-G-T |
c.2101G>T |
p.G701C |
Missense |
16/25 |
- |
1 |
9-5078417-A-G |
c.2104A>G |
p.I702V |
Missense |
16/25 |
- |
2 |
9-5078419-T-G |
c.2106T>G |
p.I702M |
Missense |
16/25 |
- |
1 |
9-5078423-A-C |
c.2110A>C |
p.I704L |
Missense |
16/25 |
- |
2 |
9-5078426-A-G |
c.2113A>G |
p.T705A |
Missense |
16/25 |
- |
1 |
9-5078427-C-A |
c.2114C>A |
p.T705K |
Missense |
16/25 |
- |
1 |
9-5078427-C-T |
c.2114C>T |
p.T705I |
Missense |
16/25 |
- |
1 |
9-5078429-G-A |
c.2116G>A |
p.V706I |
Missense |
16/25 |
- |
1 |
9-5078430-T-C |
c.2117T>C |
p.V706A |
Missense |
16/25 |
- |
1 |
9-5078432-TT-GC |
c.2119_2120delinsGC |
p.L707A |
Missense |
16/25 |
- |
1 |
9-5078435-C-T |
c.2122C>T |
p.P708S |
Missense |
16/25 |
- |
2 |
9-5078436-C-T |
c.2123C>T |
p.P708L |
Missense |
16/25 |
- |
1 |
9-5078438-A-C |
c.2125A>C |
p.K709Q |
Missense |
16/25 |
- |
1 |
9-5078440-G-A |
c.2127G>A |
p.K709= |
Synonymous |
16/25 |
- |
1 |
9-5078441-G-A |
c.2128G>A |
p.D710N |
Missense |
16/25 |
- |
2 |
9-5078441-G-C |
c.2128G>C |
p.D710H |
Missense |
16/25 |
- |
1 |
9-5078444-A-G |
c.2131A>G |
p.I711V |
Missense |
16/25 |
- |
1 |
9-5078450-T-G |
c.2131+6T>G |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5078700-T-C |
c.2131+256T>C |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5078737-T-G |
c.2131+293T>G |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5079324-A-C |
c.2131+880A>C |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5079773-C-T |
c.2132-456C>T |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5079785-C-G |
c.2132-444C>G |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5079785-C-T |
c.2132-444C>T |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5079828-A-T |
c.2132-401A>T |
- |
IntronicSNV |
- |
16/24 |
2 |
9-5080214-C-T |
c.2132-15C>T |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5080229-T-C |
c.2132T>C |
p.I711T |
Missense |
17/25 |
- |
1 |
9-5080229-T-G |
c.2132T>G |
p.I711S |
Missense |
17/25 |
- |
1 |
9-5080222-T-TTAAAAGTTTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATC |
c.2133_2134insTTTTTGTTCAAGCAGAAGACGGCATACGAGATTCCTCAATGTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTAAAAGTT |
p.I711_L712insFLFKQKTAYEIPQCDWSSDVCSSDLKV |
SpliceAcceptorInsertion |
17/25 |
- |
1 |
9-5080231-C-A |
c.2134C>A |
p.L712I |
Missense |
17/25 |
- |
1 |
9-5080231-C-G |
c.2134C>G |
p.L712V |
Missense |
17/25 |
- |
2 |
9-5080231-C-T |
c.2134C>T |
p.L712F |
Missense |
17/25 |
- |
1 |
9-5080232-T-C |
c.2135T>C |
p.L712P |
Missense |
17/25 |
- |
1 |
9-5080234-C-T |
c.2137C>T |
p.Q713* |
Nonsense |
17/25 |
- |
4 |
9-5080236-G-C |
c.2139G>C |
p.Q713H |
Missense |
17/25 |
- |
1 |
9-5080239-G-T |
c.2142G>T |
p.E714D |
Missense |
17/25 |
- |
1 |
9-5080240-A-G |
c.2143A>G |
p.R715G |
Missense |
17/25 |
- |
1 |
9-5080240-AG-GC |
c.2143_2144delinsGC |
p.R715A |
Missense |
17/25 |
- |
1 |
9-5080240-A-T |
c.2143A>T |
p.R715* |
Nonsense |
17/25 |
- |
1 |
9-5080241-G-C |
c.2144G>C |
p.R715T |
Missense |
17/25 |
- |
5 |
9-5080242-A-G |
c.2145A>G |
p.R715= |
Synonymous |
17/25 |
- |
1 |
9-5080247-C-G |
c.2150C>G |
p.P717R |
Missense |
17/25 |
- |
1 |
9-5080251-G-T |
c.2154G>T |
p.W718C |
Missense |
17/25 |
- |
2 |
9-5080252-GTA-ATG |
c.2155_2157delinsATG |
p.V719M |
Missense |
17/25 |
- |
1 |
9-5080255-C-G |
c.2158C>G |
p.P720A |
Missense |
17/25 |
- |
2 |
9-5080255-C-T |
c.2158C>T |
p.P720S |
Missense |
17/25 |
- |
1 |
9-5080256-C-A |
c.2159C>A |
p.P720Q |
Missense |
17/25 |
- |
2 |
9-5080256-C-T |
c.2159C>T |
p.P720L |
Missense |
17/25 |
- |
1 |
9-5080257-A-T |
c.2160A>T |
p.P720= |
Synonymous |
17/25 |
- |
1 |
9-5080260-T-A |
c.2163T>A |
p.P721= |
Synonymous |
17/25 |
- |
2 |
9-5080260-T-C |
c.2163T>C |
p.P721= |
Synonymous |
17/25 |
- |
3 |
9-5080260-T-G |
c.2163T>G |
p.P721= |
Synonymous |
17/25 |
- |
2 |
9-5080261-G-A |
c.2164G>A |
p.E722K |
Missense |
17/25 |
- |
3 |
9-5080264-T-A |
c.2167T>A |
p.C723S |
Missense |
17/25 |
- |
3 |
9-5080264-T-G |
c.2167T>G |
p.C723G |
Missense |
17/25 |
- |
1 |
9-5080264-TGC-AAGTAT |
c.2167_2169delinsAAGTAT |
p.C723delinsKY |
MultiAAMissense |
17/25 |
- |
1 |
9-5080265-G-C |
c.2168G>C |
p.C723S |
Missense |
17/25 |
- |
2 |
9-5080265-G-A |
c.2168G>A |
p.C723Y |
Missense |
17/25 |
- |
2 |
9-5080267-A-G |
c.2170A>G |
p.I724V |
Missense |
17/25 |
- |
1 |
9-5080268-T-C |
c.2171T>C |
p.I724T |
Missense |
17/25 |
- |
9 |
9-5080270-G-A |
c.2173G>A |
p.E725K |
Missense |
17/25 |
- |
3 |
9-5080270-G-C |
c.2173G>C |
p.E725Q |
Missense |
17/25 |
- |
1 |
9-5080270-G-T |
c.2173G>T |
p.E725* |
Nonsense |
17/25 |
- |
4 |
9-5080277-C-T |
c.2180C>T |
p.P727L |
Missense |
17/25 |
- |
3 |
9-5080282-A-C |
c.2185A>C |
p.N729H |
Missense |
17/25 |
- |
3 |
9-5080283-A-T |
c.2186A>T |
p.N729I |
Missense |
17/25 |
- |
1 |
9-5080284-T-C |
c.2187T>C |
p.N729= |
Synonymous |
17/25 |
- |
1 |
9-5080285-T-A |
c.2188T>A |
p.L730I |
Missense |
17/25 |
- |
1 |
9-5080286-T-G |
c.2189T>G |
p.L730* |
Nonsense |
17/25 |
- |
1 |
9-5080287-A-C |
c.2190A>C |
p.L730F |
Missense |
17/25 |
- |
1 |
9-5080287-A-T |
c.2190A>T |
p.L730F |
Missense |
17/25 |
- |
1 |
9-5080288-A-C |
c.2191A>C |
p.N731H |
Missense |
17/25 |
- |
1 |
9-5080288-A-T |
c.2191A>T |
p.N731Y |
Missense |
17/25 |
- |
1 |
9-5080293-G-A |
c.2196G>A |
p.L732= |
Synonymous |
17/25 |
- |
1 |
9-5080293-G-C |
c.2196G>C |
p.L732F |
Missense |
17/25 |
- |
4 |
9-5080294-G-C |
c.2197G>C |
p.A733P |
Missense |
17/25 |
- |
1 |
9-5080295-C-A |
c.2198C>A |
p.A733E |
Missense |
17/25 |
- |
1 |
9-5080297-A-G |
c.2200A>G |
p.T734A |
Missense |
17/25 |
- |
1 |
9-5080298-C-G |
c.2201C>G |
p.T734R |
Missense |
17/25 |
- |
1 |
9-5080301-A-G |
c.2204A>G |
p.D735G |
Missense |
17/25 |
- |
2 |
9-5080307-G-T |
c.2210G>T |
p.W737L |
Missense |
17/25 |
- |
1 |
9-5080308-G-C |
c.2211G>C |
p.W737C |
Missense |
17/25 |
- |
1 |
9-5080308-G-T |
c.2211G>T |
p.W737C |
Missense |
17/25 |
- |
2 |
9-5080309-AG-TA |
c.2212_2213delinsTA |
p.S738Y |
Missense |
17/25 |
- |
1 |
9-5080310-G-T |
c.2213G>T |
p.S738I |
Missense |
17/25 |
- |
1 |
9-5080312-T-A |
c.2215T>A |
p.F739I |
Missense |
17/25 |
- |
1 |
9-5080312-T-C |
c.2215T>C |
p.F739L |
Missense |
17/25 |
- |
1 |
9-5080312-TT-CG |
c.2215_2216delinsCG |
p.F739R |
Missense |
17/25 |
- |
5 |
9-5080314-T-A |
c.2217T>A |
p.F739L |
Missense |
17/25 |
- |
1 |
9-5080314-T-G |
c.2217T>G |
p.F739L |
Missense |
17/25 |
- |
1 |
9-5080315-G-T |
c.2218G>T |
p.G740C |
Missense |
17/25 |
- |
1 |
9-5080316-G-T |
c.2219G>T |
p.G740V |
Missense |
17/25 |
- |
3 |
9-5080316-GT-AG |
c.2219_2220delinsAG |
p.G740E |
Missense |
17/25 |
- |
1 |
9-5080317-T-A |
c.2220T>A |
p.G740= |
Synonymous |
17/25 |
- |
1 |
9-5080317-T-C |
c.2220T>C |
p.G740= |
Synonymous |
17/25 |
- |
1 |
9-5080317-T-G |
c.2220T>G |
p.G740= |
Synonymous |
17/25 |
- |
1 |
9-5080319-C-T |
c.2222C>T |
p.T741I |
Missense |
17/25 |
- |
1 |
9-5080318-A-AC |
c.2223dup |
p.T742Hfs*11 |
Frameshift |
17/25 |
- |
3 |
9-5080321-A-G |
c.2224A>G |
p.T742A |
Missense |
17/25 |
- |
1 |
9-5080322-C-T |
c.2225C>T |
p.T742I |
Missense |
17/25 |
- |
1 |
9-5080324-T-G |
c.2227T>G |
p.L743V |
Missense |
17/25 |
- |
2 |
9-5080326-G-C |
c.2229G>C |
p.L743F |
Missense |
17/25 |
- |
1 |
9-5080326-G-T |
c.2229G>T |
p.L743F |
Missense |
17/25 |
- |
1 |
9-5080328-G-T |
c.2231G>T |
p.W744L |
Missense |
17/25 |
- |
1 |
9-5080330-G-A |
c.2233G>A |
p.E745K |
Missense |
17/25 |
- |
1 |
9-5080330-G-T |
c.2233G>T |
p.E745* |
Nonsense |
17/25 |
- |
1 |
9-5080331-A-G |
c.2234A>G |
p.E745G |
Missense |
17/25 |
- |
2 |
9-5080332-A-C |
c.2235A>C |
p.E745D |
Missense |
17/25 |
- |
1 |
9-5080332-A-T |
c.2235A>T |
p.E745D |
Missense |
17/25 |
- |
1 |
9-5080334-T-C |
c.2237T>C |
p.I746T |
Missense |
17/25 |
- |
1 |
9-5080335-C-A |
c.2238C>A |
p.I746= |
Synonymous |
17/25 |
- |
1 |
9-5080335-C-G |
c.2238C>G |
p.I746M |
Missense |
17/25 |
- |
2 |
9-5080335-C-T |
c.2238C>T |
p.I746= |
Synonymous |
17/25 |
- |
1 |
9-5080337-G-A |
c.2240G>A |
p.C747Y |
Missense |
17/25 |
- |
1 |
9-5080337-G-T |
c.2240G>T |
p.C747F |
Missense |
17/25 |
- |
1 |
9-5080343-G-A |
c.2246G>A |
p.G749E |
Missense |
17/25 |
- |
1 |
9-5080345-G-A |
c.2248G>A |
p.G750R |
Missense |
17/25 |
- |
1 |
9-5080345-G-C |
c.2248G>C |
p.G750R |
Missense |
17/25 |
- |
1 |
9-5080346-G-A |
c.2249G>A |
p.G750E |
Missense |
17/25 |
- |
1 |
9-5080348-G-A |
c.2251G>A |
p.D751N |
Missense |
17/25 |
- |
1 |
9-5080348-G-T |
c.2251G>T |
p.D751Y |
Missense |
17/25 |
- |
1 |
9-5080349-A-G |
c.2252A>G |
p.D751G |
Missense |
17/25 |
- |
1 |
9-5080352-A-C |
c.2255A>C |
p.K752T |
Missense |
17/25 |
- |
1 |
9-5080354-C-T |
c.2257C>T |
p.P753S |
Missense |
17/25 |
- |
1 |
9-5080357-C-G |
c.2260C>G |
p.L754V |
Missense |
17/25 |
- |
2 |
9-5080357-C-T |
c.2260C>T |
p.L754= |
Synonymous |
17/25 |
- |
1 |
9-5080358-T-C |
c.2261T>C |
p.L754P |
Missense |
17/25 |
- |
2 |
9-5080360-AG-CT |
c.2263_2264inv |
p.S755L |
Missense |
17/25 |
- |
1 |
9-5080360-A-C |
c.2263A>C |
p.S755R |
Missense |
17/25 |
- |
10 |
9-5080362-T-A |
c.2265T>A |
p.S755R |
Missense |
17/25 |
- |
10 |
9-5080362-T-C |
c.2265T>C |
p.S755= |
Synonymous |
17/25 |
- |
2 |
9-5080362-T-G |
c.2265T>G |
p.S755R |
Missense |
17/25 |
- |
10 |
9-5080363-G-A |
c.2266G>A |
p.A756T |
Missense |
17/25 |
- |
1 |
9-5080364-C-T |
c.2267C>T |
p.A756V |
Missense |
17/25 |
- |
2 |
9-5080365-T-TGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA |
c.2268_2269insGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA |
p.L757Dfs*22 |
Frameshift |
17/25 |
- |
1 |
9-5080369-G-T |
c.2272G>T |
p.D758Y |
Missense |
17/25 |
- |
1 |
9-5080373-C-A |
c.2276C>A |
p.S759Y |
Missense |
17/25 |
- |
1 |
9-5080373-C-G |
c.2276C>G |
p.S759C |
Missense |
17/25 |
- |
1 |
9-5080373-C-T |
c.2276C>T |
p.S759F |
Missense |
17/25 |
- |
1 |
9-5080377-A-C |
c.2280A>C |
p.Q760H |
Missense |
17/25 |
- |
1 |
9-5080377-A-T |
c.2280A>T |
p.Q760H |
Missense |
17/25 |
- |
3 |
9-5080378-A-G |
c.2281A>G |
p.R761G |
Missense |
17/25 |
- |
1 |
9-5080379-G-A |
c.2282G>A |
p.R761K |
Missense |
17/25 |
- |
1 |
9-5080381-G-C |
c.2283+1G>C |
- |
IntronicSNV |
- |
17/24 |
3 |
9-5080392-T-A |
c.2283+12T>A |
- |
IntronicSNV |
- |
17/24 |
1 |
9-5080392-T-C |
c.2283+12T>C |
- |
IntronicSNV |
- |
17/24 |
1 |
9-5080392-T-G |
c.2283+12T>G |
- |
IntronicSNV |
- |
17/24 |
1 |
9-5080530-TAGA-T |
c.2284_2286del |
p.K762del |
SpliceAcceptorDeletion |
18/25 |
- |
1 |
9-5080533-A-C |
c.2284A>C |
p.K762Q |
Missense |
18/25 |
- |
1 |
9-5080533-A-G |
c.2284A>G |
p.K762E |
Missense |
18/25 |
- |
2 |
9-5080534-A-G |
c.2285A>G |
p.K762R |
Missense |
18/25 |
- |
4 |
9-5080535-G-A |
c.2286G>A |
p.K762= |
Synonymous |
18/25 |
- |
2 |
9-5080539-C-G |
c.2290C>G |
p.Q764E |
Missense |
18/25 |
- |
1 |
9-5080540-A-G |
c.2291A>G |
p.Q764R |
Missense |
18/25 |
- |
1 |
9-5080541-A-C |
c.2292A>C |
p.Q764H |
Missense |
18/25 |
- |
1 |
9-5080541-A-T |
c.2292A>T |
p.Q764H |
Missense |
18/25 |
- |
1 |
9-5080543-T-A |
c.2294T>A |
p.F765Y |
Missense |
18/25 |
- |
1 |
9-5080543-T-G |
c.2294T>G |
p.F765C |
Missense |
18/25 |
- |
1 |
9-5080545-TAT-GAG |
c.2296_2298delinsGAG |
p.Y766E |
Missense |
18/25 |
- |
1 |
9-5080548-G-A |
c.2299G>A |
p.E767K |
Missense |
18/25 |
- |
1 |
9-5080549-A-G |
c.2300A>G |
p.E767G |
Missense |
18/25 |
- |
1 |
9-5080550-A-G |
c.2301A>G |
p.E767= |
Synonymous |
18/25 |
- |
1 |
9-5080551-G-C |
c.2302G>C |
p.D768H |
Missense |
18/25 |
- |
3 |
9-5080554-AG-CA |
c.2305_2306delinsCA |
p.R769Q |
Missense |
18/25 |
- |
1 |
9-5080554-A-T |
c.2305A>T |
p.R769W |
Missense |
18/25 |
- |
1 |
9-5080555-G-A |
c.2306G>A |
p.R769K |
Missense |
18/25 |
- |
2 |
9-5080558-A-G |
c.2309A>G |
p.H770R |
Missense |
18/25 |
- |
1 |
9-5080558-A-T |
c.2309A>T |
p.H770L |
Missense |
18/25 |
- |
4 |
9-5080558-CA-C |
c.2309del |
p.H770Lfs*11 |
Frameshift |
18/25 |
- |
1 |
9-5080560-C-T |
c.2311C>T |
p.Q771* |
Nonsense |
18/25 |
- |
2 |
9-5080561-A-G |
c.2312A>G |
p.Q771R |
Missense |
18/25 |
- |
1 |
9-5080563-C-T |
c.2314C>T |
p.L772F |
Missense |
18/25 |
- |
1 |
9-5080566-CCT-TTTAGC |
c.2317_2319delinsTTTAGC |
p.P773delinsFS |
MultiAAMissense |
18/25 |
- |
1 |
9-5080566-CC-TTTTT |
c.2317_2318delinsTTTTT |
p.P773delinsFF |
MultiAAMissense |
18/25 |
- |
1 |
9-5080566-C-G |
c.2317C>G |
p.P773A |
Missense |
18/25 |
- |
1 |
9-5080566-C-T |
c.2317C>T |
p.P773S |
Missense |
18/25 |
- |
2 |
9-5080567-C-A |
c.2318C>A |
p.P773H |
Missense |
18/25 |
- |
2 |
9-5080567-C-T |
c.2318C>T |
p.P773L |
Missense |
18/25 |
- |
1 |
9-5080569-G-A |
c.2320G>A |
p.A774T |
Missense |
18/25 |
- |
2 |
9-5080569-G-C |
c.2320G>C |
p.A774P |
Missense |
18/25 |
- |
1 |
9-5080569-G-T |
c.2320G>T |
p.A774S |
Missense |
18/25 |
- |
4 |
9-5080572-C-G |
c.2323C>G |
p.P775A |
Missense |
18/25 |
- |
2 |
9-5080572-C-T |
c.2323C>T |
p.P775S |
Missense |
18/25 |
- |
1 |
9-5080573-C-CAGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAA |
c.2325_2326insGATCGGAAGAGCACACGTCTGAACTCCAGTCACCCTCTATCATCTCGTATGCCGTCTTCTGCTTGAAAAAAAAAAACAAA |
p.K776Dfs*22 |
Frameshift |
18/25 |
- |
1 |
9-5080578-TG-GC |
c.2329_2330delinsGC |
p.W777A |
Missense |
18/25 |
- |
5 |
9-5080579-G-A |
c.2330G>A |
p.W777* |
Nonsense |
18/25 |
- |
3 |
9-5080580-G-A |
c.2331G>A |
p.W777* |
Nonsense |
18/25 |
- |
4 |
9-5080581-G-A |
c.2332G>A |
p.A778T |
Missense |
18/25 |
- |
8 |
9-5080582-C-T |
c.2333C>T |
p.A778V |
Missense |
18/25 |
- |
3 |
9-5080584-G-A |
c.2335G>A |
p.E779K |
Missense |
18/25 |
- |
1 |
9-5080585-A-T |
c.2336A>T |
p.E779V |
Missense |
18/25 |
- |
1 |
9-5080586-A-G |
c.2337A>G |
p.E779= |
Synonymous |
18/25 |
- |
1 |
9-5080593-A-T |
c.2344A>T |
p.N782Y |
Missense |
18/25 |
- |
1 |
9-5080594-A-G |
c.2345A>G |
p.N782S |
Missense |
18/25 |
- |
1 |
9-5080596-C-A |
c.2347C>A |
p.L783I |
Missense |
18/25 |
- |
1 |
9-5080596-C-T |
c.2347C>T |
p.L783F |
Missense |
18/25 |
- |
2 |
9-5080605-A-G |
c.2356A>G |
p.N786D |
Missense |
18/25 |
- |
1 |
9-5080608-T-A |
c.2359T>A |
p.C787S |
Missense |
18/25 |
- |
1 |
9-5080608-T-C |
c.2359T>C |
p.C787R |
Missense |
18/25 |
- |
4 |
9-5080611-A-G |
c.2362A>G |
p.M788V |
Missense |
18/25 |
- |
1 |
9-5080612-T-C |
c.2363T>C |
p.M788T |
Missense |
18/25 |
- |
2 |
9-5080613-G-A |
c.2364G>A |
p.M788I |
Missense |
18/25 |
- |
2 |
9-5080613-G-C |
c.2364G>C |
p.M788I |
Missense |
18/25 |
- |
2 |
9-5080613-G-T |
c.2364G>T |
p.M788I |
Missense |
18/25 |
- |
3 |
9-5080614-G-A |
c.2365G>A |
p.D789N |
Missense |
18/25 |
- |
3 |
9-5080614-GAT-TATATCAAC |
c.2365_2367delinsTATATCAAC |
p.D789delinsYIN |
MultiAAMissense |
18/25 |
- |
1 |
9-5080614-G-T |
c.2365G>T |
p.D789Y |
Missense |
18/25 |
- |
1 |
9-5080617-TAT-GAG |
c.2368_2370delinsGAG |
p.Y790E |
Missense |
18/25 |
- |
1 |
9-5080618-A-T |
c.2369A>T |
p.Y790F |
Missense |
18/25 |
- |
1 |
9-5080620-G-T |
c.2371G>T |
p.E791* |
Nonsense |
18/25 |
- |
1 |
9-5080622-A-G |
c.2373A>G |
p.E791= |
Synonymous |
18/25 |
- |
1 |
9-5080623-C-G |
c.2374C>G |
p.P792A |
Missense |
18/25 |
- |
1 |
9-5080623-C-T |
c.2374C>T |
p.P792S |
Missense |
18/25 |
- |
1 |
9-5080624-C-T |
c.2375C>T |
p.P792L |
Missense |
18/25 |
- |
1 |
9-5080626-G-A |
c.2377G>A |
p.D793N |
Missense |
18/25 |
- |
4 |
9-5080629-T-A |
c.2380T>A |
p.F794I |
Missense |
18/25 |
- |
1 |
9-5080629-TT-CA |
c.2380_2381delinsCA |
p.F794H |
Missense |
18/25 |
- |
5 |
9-5080629-TTC-CAA |
c.2380_2382delinsCAA |
p.F794Q |
Missense |
18/25 |
- |
1 |
9-5080631-C-T |
c.2382C>T |
p.F794= |
Synonymous |
18/25 |
- |
2 |
9-5080632-A-G |
c.2383A>G |
p.R795G |
Missense |
18/25 |
- |
1 |
9-5080634-G-T |
c.2385G>T |
p.R795S |
Missense |
18/25 |
- |
3 |
9-5080636-C-T |
c.2387C>T |
p.P796L |
Missense |
18/25 |
- |
2 |
9-5080638-TC-AA |
c.2389_2390delinsAA |
p.S797N |
Missense |
18/25 |
- |
1 |
9-5080635-CCTT-C |
c.2390_2392del |
p.S797del |
InFrameDeletion |
18/25 |
- |
1 |
9-5080639-C-G |
c.2390C>G |
p.S797C |
Missense |
18/25 |
- |
7 |
9-5080639-C-T |
c.2390C>T |
p.S797F |
Missense |
18/25 |
- |
2 |
9-5080643-C-T |
c.2394C>T |
p.F798= |
Synonymous |
18/25 |
- |
1 |
9-5080644-AGA-TGG |
c.2395_2397delinsTGG |
p.R799W |
Missense |
18/25 |
- |
1 |
9-5080644-A-T |
c.2395A>T |
p.R799* |
Nonsense |
18/25 |
- |
1 |
9-5080645-G-A |
c.2396G>A |
p.R799K |
Missense |
18/25 |
- |
1 |
9-5080645-GA-TG |
c.2396_2397delinsTG |
p.R799M |
Missense |
18/25 |
- |
1 |
9-5080645-G-C |
c.2396G>C |
p.R799T |
Missense |
18/25 |
- |
1 |
9-5080645-G-T |
c.2396G>T |
p.R799I |
Missense |
18/25 |
- |
1 |
9-5080647-G-A |
c.2398G>A |
p.A800T |
Missense |
18/25 |
- |
1 |
9-5080648-C-A |
c.2399C>A |
p.A800D |
Missense |
18/25 |
- |
1 |
9-5080650-A-C |
c.2401A>C |
p.I801L |
Missense |
18/25 |
- |
1 |
9-5080650-A-G |
c.2401A>G |
p.I801V |
Missense |
18/25 |
- |
1 |
9-5080650-A-T |
c.2401A>T |
p.I801F |
Missense |
18/25 |
- |
1 |
9-5080652-C-A |
c.2403C>A |
p.I801= |
Synonymous |
18/25 |
- |
1 |
9-5080652-C-T |
c.2403C>T |
p.I801= |
Synonymous |
18/25 |
- |
2 |
9-5080656-CGA-AGC |
c.2407_2409delinsAGC |
p.R803S |
Missense |
18/25 |
- |
1 |
9-5080656-C-T |
c.2407C>T |
p.R803* |
Nonsense |
18/25 |
- |
3 |
9-5080657-G-A |
c.2408G>A |
p.R803Q |
Missense |
18/25 |
- |
4 |
9-5080659-G-A |
c.2410G>A |
p.D804N |
Missense |
18/25 |
- |
1 |
9-5080659-G-T |
c.2410G>T |
p.D804Y |
Missense |
18/25 |
- |
1 |
9-5080660-A-G |
c.2411A>G |
p.D804G |
Missense |
18/25 |
- |
2 |
9-5080661-T-A |
c.2412T>A |
p.D804E |
Missense |
18/25 |
- |
1 |
9-5080661-T-G |
c.2412T>G |
p.D804E |
Missense |
18/25 |
- |
1 |
9-5080663-T-C |
c.2414T>C |
p.L805P |
Missense |
18/25 |
- |
1 |
9-5080663-T-G |
c.2414T>G |
p.L805R |
Missense |
18/25 |
- |
1 |
9-5080664-T-G |
c.2415T>G |
p.L805= |
Synonymous |
18/25 |
- |
1 |
9-5080665-A-C |
c.2416A>C |
p.N806H |
Missense |
18/25 |
- |
1 |
9-5080664-TA-T |
c.2417del |
p.N806Tfs*11 |
Frameshift |
18/25 |
- |
1 |
9-5080669-G-A |
c.2420G>A |
p.S807N |
Missense |
18/25 |
- |
1 |
9-5080672-T-G |
c.2423T>G |
p.L808W |
Missense |
18/25 |
- |
7 |
9-5080673-G-T |
c.2424G>T |
p.L808F |
Missense |
18/25 |
- |
1 |
9-5080674-T-A |
c.2425T>A |
p.F809I |
Missense |
18/25 |
- |
1 |
9-5080676-T-A |
c.2427T>A |
p.F809L |
Missense |
18/25 |
- |
1 |
9-5080677-A-T |
c.2428A>T |
p.T810S |
Missense |
18/25 |
- |
1 |
9-5080678-C-G |
c.2429C>G |
p.T810S |
Missense |
18/25 |
- |
1 |
9-5080678-C-T |
c.2429C>T |
p.T810I |
Missense |
18/25 |
- |
1 |
9-5080679-T-A |
c.2430T>A |
p.T810= |
Synonymous |
18/25 |
- |
1 |
9-5080679-T-C |
c.2430T>C |
p.T810= |
Synonymous |
18/25 |
- |
2 |
9-5080679-T-G |
c.2430T>G |
p.T810= |
Synonymous |
18/25 |
- |
1 |
9-5080680-C-A |
c.2431C>A |
p.P811T |
Missense |
18/25 |
- |
2 |
9-5080680-C-T |
c.2431C>T |
p.P811S |
Missense |
18/25 |
- |
1 |
9-5080683-G-C |
c.2434G>C |
p.D812H |
Missense |
18/25 |
- |
1 |
9-5080683-G-T |
c.2434G>T |
p.D812Y |
Missense |
18/25 |
- |
2 |
9-5080892-CTTTT-C |
c.2434+227_2434+230del |
- |
IntronicDeletion |
- |
18/24 |
1 |
9-5080990-G-T |
c.2434+307G>T |
- |
IntronicSNV |
- |
18/24 |
1 |
9-5081334-C-G |
c.2435-391C>G |
- |
IntronicSNV |
- |
18/24 |
5 |
9-5081334-C-T |
c.2435-391C>T |
- |
IntronicSNV |
- |
18/24 |
5 |
9-5081478-T-G |
c.2435-247T>G |
- |
IntronicSNV |
- |
18/24 |
1 |
9-5081585-A-G |
c.2435-140A>G |
- |
IntronicSNV |
- |
18/24 |
6 |
9-5081725-A-T |
c.2435A>T |
p.D812V |
Missense |
19/25 |
- |
4 |
9-5081726-T-C |
c.2436T>C |
p.D812= |
Synonymous |
19/25 |
- |
1 |
9-5081727-T-G |
c.2437T>G |
p.Y813D |
Missense |
19/25 |
- |
3 |
9-5081728-A-C |
c.2438A>C |
p.Y813S |
Missense |
19/25 |
- |
1 |
9-5081728-A-T |
c.2438A>T |
p.Y813F |
Missense |
19/25 |
- |
9 |
9-5081729-T-C |
c.2439T>C |
p.Y813= |
Synonymous |
19/25 |
- |
1 |
9-5081728-A-ATGTAACTAATATCCTGATTATTTGCTG |
c.2440_2441insTAACTAATATCCTGATTATTTGCTGTG |
p.Y813_E814insVTNILIICC |
InFrameInsertion |
19/25 |
- |
1 |
9-5081730-GA-TC |
c.2440_2441inv |
p.E814S |
Missense |
19/25 |
- |
1 |
9-5081730-G-T |
c.2440G>T |
p.E814* |
Nonsense |
19/25 |
- |
2 |
9-5081732-A-AC |
c.2443dup |
p.L815Pfs*6 |
Frameshift |
19/25 |
- |
1 |
9-5081733-C-A |
c.2443C>A |
p.L815I |
Missense |
19/25 |
- |
2 |
9-5081734-T-C |
c.2444T>C |
p.L815P |
Missense |
19/25 |
- |
7 |
9-5081740-C-A |
c.2450C>A |
p.T817K |
Missense |
19/25 |
- |
1 |
9-5081742-G-T |
c.2452G>T |
p.E818* |
Nonsense |
19/25 |
- |
2 |
9-5081748-G-T |
c.2458G>T |
p.D820Y |
Missense |
19/25 |
- |
8 |
9-5081749-A-G |
c.2459A>G |
p.D820G |
Missense |
19/25 |
- |
1 |
9-5081749-A-T |
c.2459A>T |
p.D820V |
Missense |
19/25 |
- |
1 |
9-5081753-G-A |
c.2463G>A |
p.M821I |
Missense |
19/25 |
- |
2 |
9-5081753-G-C |
c.2463G>C |
p.M821I |
Missense |
19/25 |
- |
1 |
9-5081753-G-T |
c.2463G>T |
p.M821I |
Missense |
19/25 |
- |
1 |
9-5081754-T-G |
c.2464T>G |
p.L822V |
Missense |
19/25 |
- |
1 |
9-5081754-TT-AG |
c.2464_2465delinsAG |
p.L822R |
Missense |
19/25 |
- |
1 |
9-5081757-C-T |
c.2467C>T |
p.P823S |
Missense |
19/25 |
- |
1 |
9-5081758-C-T |
c.2468C>T |
p.P823L |
Missense |
19/25 |
- |
6 |
9-5081760-A-C |
c.2470A>C |
p.N824H |
Missense |
19/25 |
- |
1 |
9-5081766-AG-CC |
c.2476_2477delinsCC |
p.R826P |
Missense |
19/25 |
- |
1 |
9-5081768-G-T |
c.2478G>T |
p.R826S |
Missense |
19/25 |
- |
2 |
9-5081769-A-G |
c.2479A>G |
p.I827V |
Missense |
19/25 |
- |
1 |
9-5081771-A-T |
c.2481A>T |
p.I827= |
Synonymous |
19/25 |
- |
1 |
9-5081772-G-T |
c.2482G>T |
p.G828C |
Missense |
19/25 |
- |
1 |
9-5081774-T-A |
c.2484T>A |
p.G828= |
Synonymous |
19/25 |
- |
1 |
9-5081774-T-C |
c.2484T>C |
p.G828= |
Synonymous |
19/25 |
- |
1 |
9-5081774-T-G |
c.2484T>G |
p.G828= |
Synonymous |
19/25 |
- |
1 |
9-5081775-G-A |
c.2485G>A |
p.A829T |
Missense |
19/25 |
- |
2 |
9-5081775-G-C |
c.2485G>C |
p.A829P |
Missense |
19/25 |
- |
5 |
9-5081776-C-G |
c.2486C>G |
p.A829G |
Missense |
19/25 |
- |
1 |
9-5081776-C-T |
c.2486C>T |
p.A829V |
Missense |
19/25 |
- |
1 |
9-5081778-C-G |
c.2488C>G |
p.L830V |
Missense |
19/25 |
- |
3 |
9-5081778-CT-TA |
c.2488_2489delinsTA |
p.L830* |
Missense |
19/25 |
- |
2 |
9-5081778-C-T |
c.2488C>T |
p.L830= |
Synonymous |
19/25 |
- |
7 |
9-5081780-G-A |
c.2490G>A |
p.L830= |
Synonymous |
19/25 |
- |
45 |
9-5081780-G-C |
c.2490G>C |
p.L830= |
Synonymous |
19/25 |
- |
32 |
9-5081780-G-T |
c.2490G>T |
p.L830= |
Synonymous |
19/25 |
- |
4 |
9-5081781-G-A |
c.2491G>A |
p.G831R |
Missense |
19/25 |
- |
1 |
9-5081781-G-C |
c.2491G>C |
p.G831R |
Missense |
19/25 |
- |
1 |
9-5081781-G-T |
c.2491G>T |
p.G831W |
Missense |
19/25 |
- |
2 |
9-5081782-G-A |
c.2492G>A |
p.G831E |
Missense |
19/25 |
- |
2 |
9-5081788-C-A |
c.2498C>A |
p.S833Y |
Missense |
19/25 |
- |
1 |
9-5081788-C-G |
c.2498C>G |
p.S833C |
Missense |
19/25 |
- |
1 |
9-5081789-T-A |
c.2499T>A |
p.S833= |
Synonymous |
19/25 |
- |
1 |
9-5081789-T-C |
c.2499T>C |
p.S833= |
Synonymous |
19/25 |
- |
1 |
9-5081789-T-G |
c.2499T>G |
p.S833= |
Synonymous |
19/25 |
- |
1 |
9-5081791-G-A |
c.2501G>A |
p.G834D |
Missense |
19/25 |
- |
1 |
9-5081793-G-A |
c.2503G>A |
p.A835T |
Missense |
19/25 |
- |
3 |
9-5081793-G-T |
c.2503G>T |
p.A835S |
Missense |
19/25 |
- |
6 |
9-5081794-C-G |
c.2504C>G |
p.A835G |
Missense |
19/25 |
- |
1 |
9-5081798-T-A |
c.2508T>A |
p.F836L |
Missense |
19/25 |
- |
1 |
9-5081805-C-A |
c.2515C>A |
p.R839= |
Synonymous |
19/25 |
- |
1 |
9-5081805-C-G |
c.2515C>G |
p.R839G |
Missense |
19/25 |
- |
1 |
9-5081805-CGG-TGT |
c.2515_2517delinsTGT |
p.R839C |
Missense |
19/25 |
- |
1 |
9-5081805-C-T |
c.2515C>T |
p.R839W |
Missense |
19/25 |
- |
3 |
9-5081807-G-A |
c.2517G>A |
p.R839= |
Synonymous |
19/25 |
- |
1 |
9-5081807-G-C |
c.2517G>C |
p.R839= |
Synonymous |
19/25 |
- |
1 |
9-5081807-G-T |
c.2517G>T |
p.R839= |
Synonymous |
19/25 |
- |
1 |
9-5081806-G-A |
c.2516G>A |
p.R839Q |
Missense |
19/25 |
- |
2 |
9-5081808-G-A |
c.2518G>A |
p.D840N |
Missense |
19/25 |
- |
3 |
9-5081808-G-C |
c.2518G>C |
p.D840H |
Missense |
19/25 |
- |
1 |
9-5081809-A-G |
c.2519A>G |
p.D840G |
Missense |
19/25 |
- |
1 |
9-5081811-C-T |
c.2521C>T |
p.P841S |
Missense |
19/25 |
- |
5 |
9-5081812-C-G |
c.2522C>G |
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