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 |
- |
1 |
9-4985879-A-G |
c.-108-61A>G |
- |
intron_variant |
- |
1/24 |
7 |
9-4987958-C-T |
c.-26+1936C>T |
- |
intron_variant |
- |
2/24 |
1 |
9-4988761-C-T |
c.-26+2739C>T |
- |
intron_variant |
- |
2/24 |
11 |
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 |
9-4998401-C-T |
c.-26+12379C>T |
- |
intron_variant |
- |
2/24 |
1 |
9-4998639-A-C |
c.-26+12617A>C |
- |
intron_variant |
- |
2/24 |
1 |
9-4998639-A-G |
c.-26+12617A>G |
- |
intron_variant |
- |
2/24 |
1 |
9-4999303-A-G |
c.-26+13281A>G |
- |
intron_variant |
- |
2/24 |
5 |
9-5000811-A-G |
c.-26+14789A>G |
- |
intron_variant |
- |
2/24 |
2 |
9-5002011-C-T |
c.-26+15989C>T |
- |
intron_variant |
- |
2/24 |
1 |
9-5003338-G-A |
c.-26+17316G>A |
- |
intron_variant |
- |
2/24 |
2 |
9-5003338-G-C |
c.-26+17316G>C |
- |
intron_variant |
- |
2/24 |
2 |
9-5003973-G-T |
c.-26+17951G>T |
- |
intron_variant |
- |
2/24 |
3 |
9-5005034-A-T |
c.-25-16929A>T |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5005040-T-A |
c.-25-16923T>A |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5005040-T-C |
c.-25-16923T>C |
- |
IntronicSNV |
- |
2/24 |
1 |
9-5008070-C-A |
c.-25-13893C>A |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5008070-C-T |
c.-25-13893C>T |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5010192-G-A |
c.-25-11771G>A |
- |
IntronicSNV |
- |
2/24 |
6 |
9-5010751-C-A |
c.-25-11212C>A |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5014332-G-A |
c.-25-7631G>A |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5015732-C-A |
c.-25-6231C>A |
- |
IntronicSNV |
- |
2/24 |
4 |
9-5015901-T-A |
c.-25-6062T>A |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5015901-T-C |
c.-25-6062T>C |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5015901-T-G |
c.-25-6062T>G |
- |
IntronicSNV |
- |
2/24 |
3 |
9-5017350-G-A |
c.-25-4613G>A |
- |
IntronicSNV |
- |
2/24 |
2 |
9-5021514-A-G |
c.-25-449A>G |
- |
IntronicSNV |
- |
2/24 |
2 |
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 |
- |
1 |
9-5021993-A-G |
c.6A>G |
p.G2= |
Synonymous |
3/25 |
- |
1 |
9-5021993-A-T |
c.6A>T |
p.G2= |
Synonymous |
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 |
- |
4 |
9-5022016-A-C |
c.29A>C |
p.E10A |
Missense |
3/25 |
- |
1 |
9-5022021-G-A |
c.34G>A |
p.E12K |
Missense |
3/25 |
- |
1 |
9-5022021-G-C |
c.34G>C |
p.E12Q |
Missense |
3/25 |
- |
1 |
9-5022022-A-C |
c.35A>C |
p.E12A |
Missense |
3/25 |
- |
2 |
9-5022025-G-A |
c.38G>A |
p.G13E |
Missense |
3/25 |
- |
1 |
9-5022025-GA-AC |
c.38_39delinsAC |
p.G13D |
Missense |
3/25 |
- |
4 |
9-5022025-G-T |
c.38G>T |
p.G13V |
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 |
- |
3 |
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 |
- |
2 |
9-5022034-C-A |
c.47C>A |
p.T16N |
Missense |
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-TCT-AAG |
c.49_51delinsAAG |
p.S17K |
Missense |
3/25 |
- |
1 |
9-5022036-T-G |
c.49T>G |
p.S17A |
Missense |
3/25 |
- |
4 |
9-5022037-C-G |
c.50C>G |
p.S17C |
Missense |
3/25 |
- |
3 |
9-5022039-TC-GA |
c.52_53inv |
p.S18D |
Missense |
3/25 |
- |
1 |
9-5022039-TC-GG |
c.52_53delinsGG |
p.S18G |
Missense |
3/25 |
- |
1 |
9-5022039-T-G |
c.52T>G |
p.S18A |
Missense |
3/25 |
- |
2 |
9-5022041-T-C |
c.54T>C |
p.S18= |
Synonymous |
3/25 |
- |
1 |
9-5022048-CA-AC |
c.61_62delinsAC |
p.Q21T |
Missense |
3/25 |
- |
1 |
9-5022048-CAG-GAC |
c.61_63delinsGAC |
p.Q21D |
Missense |
3/25 |
- |
1 |
9-5022050-G-C |
c.63G>C |
p.Q21H |
Missense |
3/25 |
- |
1 |
9-5022050-G-T |
c.63G>T |
p.Q21H |
Missense |
3/25 |
- |
1 |
9-5022055-G-T |
c.68G>T |
p.G23V |
Missense |
3/25 |
- |
1 |
9-5022057-GAT-ATG |
c.70_72delinsATG |
p.D24M |
Missense |
3/25 |
- |
1 |
9-5022057-G-C |
c.70G>C |
p.D24H |
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 |
9-5022077-T-C |
c.90T>C |
p.N30= |
Synonymous |
3/25 |
- |
1 |
9-5022091-T-C |
c.104T>C |
p.I35T |
Missense |
3/25 |
- |
2 |
9-5022093-GA-TG |
c.106_107delinsTG |
p.D36C |
Missense |
3/25 |
- |
1 |
9-5022102-CT-GC |
c.115_116delinsGC |
p.L39A |
Missense |
3/25 |
- |
4 |
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 |
- |
1 |
9-5022107-G-C |
c.120G>C |
p.Q40H |
Missense |
3/25 |
- |
1 |
9-5022118-A-G |
c.131A>G |
p.Y44C |
Missense |
3/25 |
- |
1 |
9-5022129-G-C |
c.142G>C |
p.G48R |
Missense |
3/25 |
- |
1 |
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 |
9-5022138-G-A |
c.151G>A |
p.E51K |
Missense |
3/25 |
- |
1 |
9-5022142-CA-AC |
c.155_156delinsAC |
p.A52D |
Missense |
3/25 |
- |
1 |
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 |
9-5022150-CTG-TTT |
c.163_165delinsTTT |
p.L55F |
Missense |
3/25 |
- |
1 |
9-5022151-T-C |
c.164T>C |
p.L55P |
Missense |
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 |
9-5022159-CCA-TGT |
c.172_174delinsTGT |
p.P58C |
Missense |
3/25 |
- |
1 |
9-5022159-C-G |
c.172C>G |
p.P58A |
Missense |
3/25 |
- |
2 |
9-5022160-C-A |
c.173C>A |
p.P58Q |
Missense |
3/25 |
- |
1 |
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 |
- |
1 |
9-5022163-C-T |
c.176C>T |
p.S59F |
Missense |
3/25 |
- |
1 |
9-5022166-G-A |
c.179G>A |
p.G60E |
Missense |
3/25 |
- |
1 |
9-5022166-G-T |
c.179G>T |
p.G60V |
Missense |
3/25 |
- |
1 |
9-5022167-G-A |
c.180G>A |
p.G60= |
Synonymous |
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 |
- |
1 |
9-5022180-G-C |
c.193G>C |
p.E65Q |
Missense |
3/25 |
- |
1 |
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 |
- |
1 |
9-5022184-A-G |
c.197A>G |
p.E66G |
Missense |
3/25 |
- |
1 |
9-5022195-GC-TG |
c.208_209delinsTG |
p.A70C |
Missense |
3/25 |
- |
1 |
9-5022196-C-T |
c.209C>T |
p.A70V |
Missense |
3/25 |
- |
1 |
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 |
9-5022200-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 |
9-5022207-GC-TT |
c.220_221delinsTT |
p.A74F |
Missense |
3/25 |
- |
1 |
9-5022212-T-C |
c.225T>C |
p.C75= |
Synonymous |
3/25 |
- |
1 |
9-5022213-G-C |
c.226G>C |
p.G76R |
Missense |
3/25 |
- |
1 |
9-5022216-A-T |
c.226+3A>T |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5022807-C-T |
c.226+594C>T |
- |
IntronicSNV |
- |
3/24 |
2 |
9-5023441-G-A |
c.226+1228G>A |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5023604-A-C |
c.226+1391A>C |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5023794-G-T |
c.226+1581G>T |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5024427-T-A |
c.226+2214T>A |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5026293-A-G |
c.227-3490A>G |
- |
IntronicSNV |
- |
3/24 |
2 |
9-5028813-C-T |
c.227-970C>T |
- |
IntronicSNV |
- |
3/24 |
1 |
9-5029790-CACCTGT-C |
c.234_239del |
p.P79_V80del |
InFrameDeletion |
4/25 |
- |
1 |
9-5029794-G-A |
c.238G>A |
p.V80M |
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 |
- |
2 |
9-5029798-A-T |
c.242A>T |
p.Y81F |
Missense |
4/25 |
- |
1 |
9-5029803-A-T |
c.247A>T |
p.N83Y |
Missense |
4/25 |
- |
1 |
9-5029803-AAT-A |
c.250_251del |
p.M84Vfs*6 |
Frameshift |
4/25 |
- |
1 |
9-5029814-T-C |
c.258T>C |
p.A86= |
Synonymous |
4/25 |
- |
1 |
9-5029821-AG-GC |
c.265_266delinsGC |
p.S89A |
Missense |
4/25 |
- |
1 |
9-5029824-G-A |
c.268G>A |
p.E90K |
Missense |
4/25 |
- |
1 |
9-5029824-GAA-TTT |
c.268_270delinsTTT |
p.E90F |
Missense |
4/25 |
- |
1 |
9-5029828-C-G |
c.272C>G |
p.T91R |
Missense |
4/25 |
- |
1 |
9-5029830-GAA-TTT |
c.274_276delinsTTT |
p.E92F |
Missense |
4/25 |
- |
1 |
9-5029830-G-C |
c.274G>C |
p.E92Q |
Missense |
4/25 |
- |
1 |
9-5029833-AG-TA |
c.277_278delinsTA |
p.R93* |
Nonsense |
4/25 |
- |
1 |
9-5029840-G-C |
c.284G>C |
p.W95S |
Missense |
4/25 |
- |
1 |
9-5029842-T-C |
c.286T>C |
p.Y96H |
Missense |
4/25 |
- |
1 |
9-5029845-C-G |
c.289C>G |
p.P97A |
Missense |
4/25 |
- |
1 |
9-5029849-C-G |
c.293C>G |
p.P98R |
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 |
- |
1 |
9-5029857-GT-TG |
c.301_302delinsTG |
p.V101C |
Missense |
4/25 |
- |
1 |
9-5029859-C-CT |
c.305dup |
p.H103Pfs*4 |
Frameshift |
4/25 |
- |
1 |
9-5029863-C-T |
c.307C>T |
p.H103Y |
Missense |
4/25 |
- |
1 |
9-5029867-T-A |
c.311T>A |
p.I104K |
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 |
9-5029878-A-G |
c.322A>G |
p.T108A |
Missense |
4/25 |
- |
5 |
9-5029884-C-T |
c.328C>T |
p.H110Y |
Missense |
4/25 |
- |
1 |
9-5029885-A-G |
c.329A>G |
p.H110R |
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 |
9-5029893-C-G |
c.337C>G |
p.L113V |
Missense |
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 |
- |
2 |
9-5029897-A-T |
c.341A>T |
p.Y114F |
Missense |
4/25 |
- |
1 |
9-5029900-G-T |
c.344G>T |
p.R115I |
Missense |
4/25 |
- |
1 |
9-5036219-G-A |
c.350+6313G>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5037002-T-A |
c.350+7096T>A |
- |
IntronicSNV |
- |
4/24 |
1 |
9-5040163-G-A |
c.351-4240G>A |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5040203-T-A |
c.351-4200T>A |
- |
IntronicSNV |
- |
4/24 |
5 |
9-5042046-C-T |
c.351-2357C>T |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5042981-G-C |
c.351-1422G>C |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5042981-G-T |
c.351-1422G>T |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5043156-C-T |
c.351-1247C>T |
- |
IntronicSNV |
- |
4/24 |
2 |
9-5044407-TAC-GAG |
c.355_357delinsGAG |
p.Y119E |
Missense |
5/25 |
- |
4 |
9-5044408-A-T |
c.356A>T |
p.Y119F |
Missense |
5/25 |
- |
2 |
9-5044413-C-T |
c.361C>T |
p.P121S |
Missense |
5/25 |
- |
1 |
9-5044414-C-T |
c.362C>T |
p.P121L |
Missense |
5/25 |
- |
1 |
9-5044416-C-A |
c.364C>A |
p.R122S |
Missense |
5/25 |
- |
1 |
9-5044417-G-A |
c.365G>A |
p.R122H |
Missense |
5/25 |
- |
1 |
9-5044417-G-C |
c.365G>C |
p.R122P |
Missense |
5/25 |
- |
1 |
9-5044422-T-C |
c.370T>C |
p.Y124H |
Missense |
5/25 |
- |
1 |
9-5044423-A-G |
c.371A>G |
p.Y124C |
Missense |
5/25 |
- |
1 |
9-5044428-A-G |
c.376A>G |
p.S126G |
Missense |
5/25 |
- |
1 |
9-5044432-G-A |
c.380G>A |
p.G127D |
Missense |
5/25 |
- |
5 |
9-5044440-AG-CA |
c.388_389delinsCA |
p.R130Q |
Missense |
5/25 |
- |
2 |
9-5044440-A-T |
c.388A>T |
p.R130* |
Nonsense |
5/25 |
- |
1 |
9-5044444-C-A |
c.392C>A |
p.A131D |
Missense |
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-T |
c.395A>T |
p.Y132F |
Missense |
5/25 |
- |
1 |
9-5044449-C-T |
c.397C>T |
p.R133W |
Missense |
5/25 |
- |
1 |
9-5044450-G-A |
c.398G>A |
p.R133Q |
Missense |
5/25 |
- |
1 |
9-5044451-G-A |
c.399G>A |
p.R133= |
Synonymous |
5/25 |
- |
1 |
9-5044453-A-G |
c.401A>G |
p.H134R |
Missense |
5/25 |
- |
1 |
9-5044462-C-CT |
c.411dup |
p.R138Sfs*4 |
Frameshift |
5/25 |
- |
1 |
9-5044464-CG-AC |
c.412_413delinsAC |
p.R138T |
Missense |
5/25 |
- |
1 |
9-5044464-C-CGG |
c.413_414insGG |
p.G139Efs*29 |
Frameshift |
5/25 |
- |
1 |
9-5044465-G-A |
c.413G>A |
p.R138Q |
Missense |
5/25 |
- |
3 |
9-5044465-G-C |
c.413G>C |
p.R138P |
Missense |
5/25 |
- |
1 |
9-5044467-G-A |
c.415G>A |
p.G139S |
Missense |
5/25 |
- |
1 |
9-5044468-G-T |
c.416G>T |
p.G139V |
Missense |
5/25 |
- |
1 |
9-5044479-C-T |
c.427C>T |
p.P143S |
Missense |
5/25 |
- |
1 |
9-5044482-C-T |
c.430C>T |
p.L144F |
Missense |
5/25 |
- |
1 |
9-5044488-G-A |
c.436G>A |
p.D146N |
Missense |
5/25 |
- |
2 |
9-5044493-CTT-C |
c.443_444del |
p.F148Cfs*12 |
Frameshift |
5/25 |
- |
1 |
9-5044504-C-T |
c.452C>T |
p.S151F |
Missense |
5/25 |
- |
1 |
9-5044507-TA-T |
c.455del |
p.Y152Sfs*15 |
Frameshift |
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 |
9-5045916-C-A |
c.468+1396C>A |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5045916-C-T |
c.468+1396C>T |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5046548-A-C |
c.468+2028A>C |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5046881-T-A |
c.468+2361T>A |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5046881-T-C |
c.468+2361T>C |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5048814-G-A |
c.469-1872G>A |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5049065-G-T |
c.469-1621G>T |
- |
IntronicSNV |
- |
5/24 |
2 |
9-5049092-G-T |
c.469-1594G>T |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5050369-G-C |
c.469-317G>C |
- |
IntronicSNV |
- |
5/24 |
1 |
9-5050688-G-C |
c.471G>C |
p.W157C |
Missense |
6/25 |
- |
1 |
9-5050689-C-G |
c.472C>G |
p.R158G |
Missense |
6/25 |
- |
1 |
9-5050689-C-T |
c.472C>T |
p.R158W |
Missense |
6/25 |
- |
1 |
9-5050690-G-A |
c.473G>A |
p.R158Q |
Missense |
6/25 |
- |
2 |
9-5050690-GG-AT |
c.473_474delinsAT |
p.R158H |
Missense |
6/25 |
- |
1 |
9-5050692-C-T |
c.475C>T |
p.H159Y |
Missense |
6/25 |
- |
2 |
9-5050702-T-G |
c.485T>G |
p.V162G |
Missense |
6/25 |
- |
1 |
9-5050705-A-G |
c.488A>G |
p.H163R |
Missense |
6/25 |
- |
1 |
9-5050706-C-T |
c.489C>T |
p.H163= |
Synonymous |
6/25 |
- |
7 |
9-5050707-G-A |
c.490G>A |
p.G164R |
Missense |
6/25 |
- |
1 |
9-5050708-G-C |
c.491G>C |
p.G164A |
Missense |
6/25 |
- |
1 |
9-5050710-T-C |
c.493T>C |
p.W165R |
Missense |
6/25 |
- |
1 |
9-5050714-T-C |
c.497T>C |
p.I166T |
Missense |
6/25 |
- |
3 |
9-5050716-AA-GC |
c.499_500delinsGC |
p.K167A |
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 |
9-5050718-A-C |
c.501A>C |
p.K167N |
Missense |
6/25 |
- |
1 |
9-5050718-A-T |
c.501A>T |
p.K167N |
Missense |
6/25 |
- |
1 |
9-5050728-A-T |
c.511A>T |
p.T171S |
Missense |
6/25 |
- |
1 |
9-5050731-CA-GC |
c.514_515delinsGC |
p.H172A |
Missense |
6/25 |
- |
1 |
9-5050734-G-A |
c.517G>A |
p.E173K |
Missense |
6/25 |
- |
1 |
9-5050735-A-G |
c.518A>G |
p.E173G |
Missense |
6/25 |
- |
1 |
9-5050742-G-C |
c.525G>C |
p.Q175H |
Missense |
6/25 |
- |
1 |
9-5050746-G-C |
c.529G>C |
p.E177Q |
Missense |
6/25 |
- |
1 |
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 |
- |
1 |
9-5050759-T-G |
c.542T>G |
p.M181R |
Missense |
6/25 |
- |
1 |
9-5050788-A-C |
c.571A>C |
p.K191Q |
Missense |
6/25 |
- |
1 |
9-5050797-G-T |
c.580G>T |
p.D194Y |
Missense |
6/25 |
- |
1 |
9-5050803-AC-TG |
c.586_587delinsTG |
p.T196C |
Missense |
6/25 |
- |
1 |
9-5050806-C-T |
c.589C>T |
p.P197S |
Missense |
6/25 |
- |
1 |
9-5050811-G-C |
c.594G>C |
p.L198= |
Synonymous |
6/25 |
- |
1 |
9-5050819-A-G |
c.602A>G |
p.Y201C |
Missense |
6/25 |
- |
1 |
9-5050819-A-T |
c.602A>T |
p.Y201F |
Missense |
6/25 |
- |
1 |
9-5050820-TAACTCTATC-T |
c.605_613del |
p.N202_I204del |
InFrameDeletion |
6/25 |
- |
1 |
9-5053743-C-G |
c.615-820C>G |
- |
IntronicSNV |
- |
6/24 |
1 |
9-5053743-C-T |
c.615-820C>T |
- |
IntronicSNV |
- |
6/24 |
1 |
9-5054566-ACAAGACAT-A |
c.618_625del |
p.K207Lfs*44 |
Frameshift |
7/25 |
- |
1 |
9-5054591-C-T |
c.643C>T |
p.R215* |
Nonsense |
7/25 |
- |
1 |
9-5054592-G-A |
c.644G>A |
p.R215Q |
Missense |
7/25 |
- |
1 |
9-5054592-G-C |
c.644G>C |
p.R215P |
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 |
9-5054603-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-T |
c.659A>T |
p.D220V |
Missense |
7/25 |
- |
1 |
9-5054610-A-T |
c.662A>T |
p.Y221F |
Missense |
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 |
9-5054616-T-C |
c.668T>C |
p.I223T |
Missense |
7/25 |
- |
1 |
9-5054618-TT-GA |
c.670_671delinsGA |
p.L224E |
Missense |
7/25 |
- |
2 |
9-5054622-C-T |
c.674C>T |
p.T225I |
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 |
9-5054630-C-T |
c.682C>T |
p.R228* |
Nonsense |
7/25 |
- |
1 |
9-5054642-AGA-TAT |
c.694_696delinsTAT |
p.R232Y |
Missense |
7/25 |
- |
1 |
9-5054648-C-T |
c.700C>T |
p.R234C |
Missense |
7/25 |
- |
2 |
9-5054649-G-A |
c.701G>A |
p.R234H |
Missense |
7/25 |
- |
1 |
9-5054650-C-A |
c.702C>A |
p.R234= |
Synonymous |
7/25 |
- |
1 |
9-5054654-T-C |
c.706T>C |
p.F236L |
Missense |
7/25 |
- |
1 |
9-5054660-C-T |
c.712C>T |
p.Q238* |
Nonsense |
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 |
9-5054672-C-T |
c.724C>T |
p.Q242* |
Nonsense |
7/25 |
- |
1 |
9-5054679-A-G |
c.731A>G |
p.K244R |
Missense |
7/25 |
- |
3 |
9-5054681-G-A |
c.733G>A |
p.A245T |
Missense |
7/25 |
- |
1 |
9-5054690-AGA-TGG |
c.742_744delinsTGG |
p.R248W |
Missense |
7/25 |
- |
3 |
9-5054690-AG-CA |
c.742_743delinsCA |
p.R248Q |
Missense |
7/25 |
- |
1 |
9-5054691-G-A |
c.743G>A |
p.R248K |
Missense |
7/25 |
- |
1 |
9-5054703-T-C |
c.755T>C |
p.L252P |
Missense |
7/25 |
- |
1 |
9-5054707-G-C |
c.759G>C |
p.K253N |
Missense |
7/25 |
- |
1 |
9-5054715-T-C |
c.767T>C |
p.I256T |
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 |
9-5054729-C-T |
c.781C>T |
p.L261= |
Synonymous |
7/25 |
- |
1 |
9-5054732-C-T |
c.784C>T |
p.Q262* |
Nonsense |
7/25 |
- |
1 |
9-5054734-G-T |
c.786G>T |
p.Q262H |
Missense |
7/25 |
- |
1 |
9-5054742-T-C |
c.794T>C |
p.F265S |
Missense |
7/25 |
- |
1 |
9-5054745-A-C |
c.797A>C |
p.Y266S |
Missense |
7/25 |
- |
1 |
9-5054746-C-T |
c.798C>T |
p.Y266= |
Synonymous |
7/25 |
- |
1 |
9-5054751-GA-G |
c.803del |
p.E268Gfs*5 |
Frameshift |
7/25 |
- |
1 |
9-5054752-G-C |
c.804G>C |
p.E268D |
Missense |
7/25 |
- |
2 |
9-5054752-G-T |
c.804G>T |
p.E268D |
Missense |
7/25 |
- |
2 |
9-5054754-A-C |
c.806A>C |
p.K269T |
Missense |
7/25 |
- |
1 |
9-5054755-A-C |
c.807A>C |
p.K269N |
Missense |
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 |
9-5054765-AA-GC |
c.817_818delinsGC |
p.K273A |
Missense |
7/25 |
- |
1 |
9-5054766-A-G |
c.818A>G |
p.K273R |
Missense |
7/25 |
- |
1 |
9-5054775-G-T |
c.827G>T |
p.G276V |
Missense |
7/25 |
- |
1 |
9-5054778-G-A |
c.830G>A |
p.S277N |
Missense |
7/25 |
- |
1 |
9-5054778-G-C |
c.830G>C |
p.S277T |
Missense |
7/25 |
- |
1 |
9-5054782-TC-T |
c.836del |
p.P279Lfs*11 |
Frameshift |
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-CA |
c.840dup |
p.G281Rfs*2 |
Frameshift |
7/25 |
- |
1 |
9-5054788-A-G |
c.840A>G |
p.S280= |
Synonymous |
7/25 |
- |
1 |
9-5054789-G-T |
c.841G>T |
p.G281C |
Missense |
7/25 |
- |
1 |
9-5054795-G-A |
c.847G>A |
p.E283K |
Missense |
7/25 |
- |
1 |
9-5054802-T-C |
c.854T>C |
p.F285S |
Missense |
7/25 |
- |
1 |
9-5054804-G-T |
c.856G>T |
p.A286S |
Missense |
7/25 |
- |
1 |
9-5054808-C-G |
c.860C>G |
p.T287S |
Missense |
7/25 |
- |
1 |
9-5054828-G-T |
c.880G>T |
p.G294C |
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-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-T |
c.896C>T |
p.S299L |
Missense |
7/25 |
- |
1 |
9-5054846-AG-CA |
c.898_899delinsCA |
p.R300Q |
Missense |
7/25 |
- |
1 |
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 |
- |
1 |
9-5054849-G-A |
c.901G>A |
p.G301R |
Missense |
7/25 |
- |
1 |
9-5054849-G-C |
c.901G>C |
p.G301R |
Missense |
7/25 |
- |
1 |
9-5054856-A-T |
c.908A>T |
p.H303L |
Missense |
7/25 |
- |
1 |
9-5054870-A-C |
c.922A>C |
p.T308P |
Missense |
7/25 |
- |
1 |
9-5054870-ACA-CAT |
c.922_924delinsCAT |
p.T308H |
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 |
9-5054879-G-T |
c.931G>T |
p.E311* |
Nonsense |
7/25 |
- |
1 |
9-5054885-G-A |
c.936+1G>A |
- |
IntronicSNV |
- |
7/24 |
1 |
9-5055015-C-T |
c.936+131C>T |
- |
IntronicSNV |
- |
7/24 |
1 |
9-5055434-C-T |
c.937-235C>T |
- |
IntronicSNV |
- |
7/24 |
3 |
9-5055669-G-C |
c.937G>C |
p.D313H |
Missense |
8/25 |
- |
1 |
9-5055681-T-C |
c.949T>C |
p.Y317H |
Missense |
8/25 |
- |
2 |
9-5055686-C-G |
c.954C>G |
p.C318W |
Missense |
8/25 |
- |
1 |
9-5055687-G-A |
c.955G>A |
p.D319N |
Missense |
8/25 |
- |
2 |
9-5055703-T-G |
c.971T>G |
p.I324S |
Missense |
8/25 |
- |
1 |
9-5055709-T-C |
c.977T>C |
p.V326A |
Missense |
8/25 |
- |
1 |
9-5055717-AAG-CAT |
c.985_987delinsCAT |
p.K329H |
Missense |
8/25 |
- |
1 |
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 |
9-5055735-G-A |
c.1003G>A |
p.G335S |
Missense |
8/25 |
- |
2 |
9-5055736-G-A |
c.1004G>A |
p.G335D |
Missense |
8/25 |
- |
4 |
9-5055741-A-G |
c.1009A>G |
p.N337D |
Missense |
8/25 |
- |
3 |
9-5055741-A-T |
c.1009A>T |
p.N337Y |
Missense |
8/25 |
- |
1 |
9-5055739-C-CA |
c.1010dup |
p.N337Kfs*2 |
Frameshift |
8/25 |
- |
1 |
9-5055745-A-T |
c.1013A>T |
p.E338V |
Missense |
8/25 |
- |
1 |
9-5055750-C-G |
c.1018C>G |
p.R340G |
Missense |
8/25 |
- |
1 |
9-5055750-CGA-TGG |
c.1018_1020delinsTGG |
p.R340W |
Missense |
8/25 |
- |
1 |
9-5055751-G-A |
c.1019G>A |
p.R340Q |
Missense |
8/25 |
- |
2 |
9-5055751-G-T |
c.1019G>T |
p.R340L |
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 |
9-5055759-A-G |
c.1027A>G |
p.T343A |
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 |
- |
1 |
9-5055790-T-C |
c.1056+2T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5056931-C-A |
c.1056+1143C>A |
- |
IntronicSNV |
- |
8/24 |
4 |
9-5057284-T-A |
c.1056+1496T>A |
- |
IntronicSNV |
- |
8/24 |
4 |
9-5057822-C-A |
c.1056+2034C>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5058991-A-C |
c.1056+3203A>C |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5058991-A-T |
c.1056+3203A>T |
- |
IntronicSNV |
- |
8/24 |
2 |
9-5059440-C-T |
c.1056+3652C>T |
- |
IntronicSNV |
- |
8/24 |
4 |
9-5059543-T-C |
c.1056+3755T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063199-G-A |
c.1057-1684G>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063199-G-T |
c.1057-1684G>T |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063296-G-T |
c.1057-1587G>T |
- |
IntronicSNV |
- |
8/24 |
3 |
9-5063701-T-A |
c.1057-1182T>A |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5063701-T-C |
c.1057-1182T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5064193-T-C |
c.1057-690T>C |
- |
IntronicSNV |
- |
8/24 |
1 |
9-5064887-T-C |
c.1061T>C |
p.I354T |
Missense |
9/25 |
- |
1 |
9-5064890-A-G |
c.1064A>G |
p.E355G |
Missense |
9/25 |
- |
1 |
9-5064901-T-G |
c.1075T>G |
p.L359V |
Missense |
9/25 |
- |
2 |
9-5064905-G-A |
c.1079G>A |
p.R360K |
Missense |
9/25 |
- |
1 |
9-5064906-G-A |
c.1080G>A |
p.R360= |
Synonymous |
9/25 |
- |
1 |
9-5064916-T-C |
c.1090T>C |
p.S364P |
Missense |
9/25 |
- |
2 |
9-5064917-CTTTCGTGTCATTAATTGATGGATATTATAGATTAACTGCAGATGCACATCAT-C |
c.1093_1144del |
p.F365Tfs*6 |
Frameshift |
9/25 |
- |
4 |
9-5064921-C-T |
c.1095C>T |
p.F365= |
Synonymous |
9/25 |
- |
1 |
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 |
- |
4 |
9-5064923-T-G |
c.1097T>G |
p.V366G |
Missense |
9/25 |
- |
1 |
9-5064925-T-G |
c.1099T>G |
p.S367A |
Missense |
9/25 |
- |
1 |
9-5064928-ATTAATTGATGGATATTATAGATTAACTGCAGATG-A |
c.1102_1135del |
p.L368Hfs*9 |
Frameshift |
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 |
9-5064934-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 |
- |
1 |
9-5064934-TG-T |
c.1108del |
p.D370Mfs*6 |
Frameshift |
9/25 |
- |
1 |
9-5064936-TG-T |
c.1112del |
p.G371Dfs*5 |
Frameshift |
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-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 |
9-5064951-TAACTGCAGATGCACATCATTACC-T |
c.1125_1147del |
p.L375Ffs*3 |
Frameshift |
9/25 |
- |
1 |
9-5064953-C-G |
c.1127C>G |
p.T376S |
Missense |
9/25 |
- |
1 |
9-5064955-TGCAGATGCAC-T |
c.1129_1138del |
p.A377Ifs*8 |
Frameshift |
9/25 |
- |
1 |
9-5064962-C-T |
c.1136C>T |
p.A379V |
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 |
- |
1 |
9-5064968-AT-A |
c.1144del |
p.Y382Tfs*6 |
Frameshift |
9/25 |
- |
1 |
9-5064973-C-G |
c.1147C>G |
p.L383V |
Missense |
9/25 |
- |
1 |
9-5064973-C-T |
c.1147C>T |
p.L383F |
Missense |
9/25 |
- |
1 |
9-5064976-T-C |
c.1150T>C |
p.C384R |
Missense |
9/25 |
- |
1 |
9-5064980-A-ATTGTC |
c.1154_1155insTTGTC |
p.K385Nfs*5 |
Frameshift |
9/25 |
- |
5 |
9-5064985-G-A |
c.1159G>A |
p.V387I |
Missense |
9/25 |
- |
1 |
9-5064986-T-G |
c.1160T>G |
p.V387G |
Missense |
9/25 |
- |
1 |
9-5064991-C-T |
c.1165C>T |
p.P389S |
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 |
- |
1 |
9-5065000-G-A |
c.1174G>A |
p.V392M |
Missense |
9/25 |
- |
4 |
9-5065003-C-G |
c.1177C>G |
p.L393V |
Missense |
9/25 |
- |
7 |
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-T |
c.1189C>T |
p.Q397* |
Nonsense |
9/25 |
- |
1 |
9-5065019-G-A |
c.1193G>A |
p.S398N |
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 |
- |
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 |
9-5065039-T-G |
c.1213T>G |
p.S405A |
Missense |
9/25 |
- |
1 |
9-5065750-G-C |
c.1214+710G>C |
- |
IntronicSNV |
- |
9/24 |
7 |
9-5066682-G-A |
c.1219G>A |
p.D407N |
Missense |
10/25 |
- |
1 |
9-5066682-GAT-TGG |
c.1219_1221delinsTGG |
p.D407W |
Missense |
10/25 |
- |
1 |
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 |
- |
2 |
9-5066689-C-T |
c.1226C>T |
p.A409V |
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 |
9-5066701-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 |
9-5066705-G-C |
c.1242G>C |
p.K414N |
Missense |
10/25 |
- |
1 |
9-5066705-G-T |
c.1242G>T |
p.K414N |
Missense |
10/25 |
- |
1 |
9-5066712-G-A |
c.1249G>A |
p.G417S |
Missense |
10/25 |
- |
2 |
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 |
9-5066739-CG-GC |
c.1276_1277delinsGC |
p.R426A |
Missense |
10/25 |
- |
1 |
9-5066739-C-T |
c.1276C>T |
p.R426* |
Nonsense |
10/25 |
- |
1 |
9-5066740-G-A |
c.1277G>A |
p.R426Q |
Missense |
10/25 |
- |
1 |
9-5066742-TG-GC |
c.1279_1280delinsGC |
p.C427A |
Missense |
10/25 |
- |
1 |
9-5066746-G-A |
c.1283G>A |
p.S428N |
Missense |
10/25 |
- |
1 |
9-5066748-CC-TA |
c.1285_1286delinsTA |
p.P429Y |
Missense |
10/25 |
- |
1 |
9-5066748-C-T |
c.1285C>T |
p.P429S |
Missense |
10/25 |
- |
1 |
9-5066749-C-T |
c.1286C>T |
p.P429L |
Missense |
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 |
9-5066755-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 |
- |
1 |
9-5066782-C-A |
c.1319C>A |
p.A440D |
Missense |
10/25 |
- |
1 |
9-5066782-C-T |
c.1319C>T |
p.A440V |
Missense |
10/25 |
- |
1 |
9-5066787-G-C |
c.1324G>C |
p.E442Q |
Missense |
10/25 |
- |
1 |
9-5067298-C-T |
c.1326+509C>T |
- |
IntronicSNV |
- |
10/24 |
2 |
9-5068520-T-C |
c.1327-502T>C |
- |
IntronicSNV |
- |
10/24 |
2 |
9-5068520-T-G |
c.1327-502T>G |
- |
IntronicSNV |
- |
10/24 |
2 |
9-5068755-T-C |
c.1327-267T>C |
- |
IntronicSNV |
- |
10/24 |
8 |
9-5068755-T-G |
c.1327-267T>G |
- |
IntronicSNV |
- |
10/24 |
8 |
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 |
- |
1 |
9-5069025-G-A |
c.1330G>A |
p.E444K |
Missense |
11/25 |
- |
1 |
9-5069025-G-T |
c.1330G>T |
p.E444* |
Nonsense |
11/25 |
- |
1 |
9-5069037-G-A |
c.1342G>A |
p.E448K |
Missense |
11/25 |
- |
1 |
9-5069041-A-T |
c.1346A>T |
p.Y449F |
Missense |
11/25 |
- |
1 |
9-5069048-ACT-A |
c.1353_1354del |
p.H451Qfs*7 |
Frameshift |
11/25 |
- |
1 |
9-5069050-G-T |
c.1355G>T |
p.C452F |
Missense |
11/25 |
- |
2 |
9-5069052-T-C |
c.1357T>C |
p.L453= |
Synonymous |
11/25 |
- |
1 |
9-5069054-G-A |
c.1359G>A |
p.L453= |
Synonymous |
11/25 |
- |
1 |
9-5069059-CA-C |
c.1370del |
p.N457Mfs*22 |
Frameshift |
11/25 |
- |
1 |
9-5069059-C-CA |
c.1370dup |
p.N457Kfs*2 |
Frameshift |
11/25 |
- |
1 |
9-5069065-A-C |
c.1370A>C |
p.N457T |
Missense |
11/25 |
- |
1 |
9-5069112-AG-GC |
c.1417_1418delinsGC |
p.S473A |
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 |
9-5069128-T-C |
c.1433T>C |
p.L478S |
Missense |
11/25 |
- |
1 |
9-5069134-G-T |
c.1439G>T |
p.C480F |
Missense |
11/25 |
- |
1 |
9-5069143-T-G |
c.1448T>G |
p.M483R |
Missense |
11/25 |
- |
1 |
9-5069145-G-A |
c.1450G>A |
p.E484K |
Missense |
11/25 |
- |
7 |
9-5069145-G-C |
c.1450G>C |
p.E484Q |
Missense |
11/25 |
- |
3 |
9-5069160-G-A |
c.1465G>A |
p.D489N |
Missense |
11/25 |
- |
1 |
9-5069162-C-A |
c.1467C>A |
p.D489E |
Missense |
11/25 |
- |
1 |
9-5069175-C-T |
c.1480C>T |
p.Q494* |
Nonsense |
11/25 |
- |
1 |
9-5069188-G-T |
c.1493G>T |
p.C498F |
Missense |
11/25 |
- |
1 |
9-5069196-C-G |
c.1501C>G |
p.P501A |
Missense |
11/25 |
- |
1 |
9-5069192-T-TC |
c.1502dup |
p.P503Afs*4 |
Frameshift |
11/25 |
- |
1 |
9-5069202-C-G |
c.1507C>G |
p.P503A |
Missense |
11/25 |
- |
1 |
9-5069203-C-T |
c.1508C>T |
p.P503L |
Missense |
11/25 |
- |
1 |
9-5069205-AA-GC |
c.1510_1511delinsGC |
p.K504A |
Missense |
11/25 |
- |
1 |
9-5069837-G-A |
c.1514-88G>A |
- |
IntronicSNV |
- |
11/24 |
4 |
9-5069927-AA-GC |
c.1516_1517delinsGC |
p.K506A |
Missense |
12/25 |
- |
1 |
9-5069929-A-G |
c.1518A>G |
p.K506= |
Synonymous |
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 |
- |
1 |
9-5069931-C-G |
c.1520C>G |
p.S507* |
Nonsense |
12/25 |
- |
1 |
9-5069936-CT-GC |
c.1525_1526delinsGC |
p.L509A |
Missense |
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 |
- |
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 |
9-5069948-AGA-CAT |
c.1537_1539delinsCAT |
p.R513H |
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 |
- |
1 |
9-5069952-C-T |
c.1541C>T |
p.T514M |
Missense |
12/25 |
- |
4 |
9-5069954-AA-GC |
c.1543_1544delinsGC |
p.N515A |
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 |
9-5069966-G-T |
c.1555G>T |
p.D519Y |
Missense |
12/25 |
- |
1 |
9-5069967-A-C |
c.1556A>C |
p.D519A |
Missense |
12/25 |
- |
1 |
9-5069969-G-A |
c.1558G>A |
p.V520I |
Missense |
12/25 |
- |
1 |
9-5069973-C-T |
c.1562C>T |
p.P521L |
Missense |
12/25 |
- |
1 |
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 |
- |
2 |
9-5069981-C-G |
c.1570C>G |
p.P524A |
Missense |
12/25 |
- |
1 |
9-5069984-A-G |
c.1573A>G |
p.T525A |
Missense |
12/25 |
- |
1 |
9-5069987-T-A |
c.1576T>A |
p.L526I |
Missense |
12/25 |
- |
1 |
9-5069990-CA-GC |
c.1579_1580delinsGC |
p.Q527A |
Missense |
12/25 |
- |
1 |
9-5069993-AG-GC |
c.1582_1583delinsGC |
p.R528A |
Missense |
12/25 |
- |
1 |
9-5069993-A-C |
c.1582A>C |
p.R528= |
Synonymous |
12/25 |
- |
1 |
9-5069995-G-A |
c.1584G>A |
p.R528= |
Synonymous |
12/25 |
- |
1 |
9-5069996-C-T |
c.1585C>T |
p.P529S |
Missense |
12/25 |
- |
1 |
9-5069997-C-A |
c.1586C>A |
p.P529H |
Missense |
12/25 |
- |
1 |
9-5070005-A-G |
c.1594A>G |
p.M532V |
Missense |
12/25 |
- |
3 |
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 |
- |
2 |
9-5070008-A-T |
c.1597A>T |
p.N533Y |
Missense |
12/25 |
- |
4 |
9-5070014-A-G |
c.1603A>G |
p.M535V |
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 |
- |
5 |
9-5070016-G-C |
c.1605G>C |
p.M535I |
Missense |
12/25 |
- |
5 |
9-5070016-G-T |
c.1605G>T |
p.M535I |
Missense |
12/25 |
- |
5 |
9-5070019-G-A |
c.1608G>A |
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 |
- |
1 |
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 |
- |
1 |
9-5070022-T-G |
c.1611T>G |
p.F537L |
Missense |
12/25 |
- |
1 |
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 |
- |
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 |
- |
2 |
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 |
- |
1 |
9-5070024-A-T |
c.1613A>T |
p.H538L |
Missense |
12/25 |
- |
2 |
9-5070025-C-A |
c.1614C>A |
p.H538Q |
Missense |
12/25 |
- |
7 |
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 |
- |
7 |
9-5070026-AA-CT |
c.1615_1616delinsCT |
p.K539L |
Missense |
12/25 |
- |
68 |
9-5070026-A-G |
c.1615A>G |
p.K539E |
Missense |
12/25 |
- |
2 |
9-5070025-CAAA-C |
c.1616_1618del |
p.K539del |
InFrameDeletion |
12/25 |
- |
3 |
9-5070027-A-T |
c.1616A>T |
p.K539I |
Missense |
12/25 |
- |
5 |
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-C |
c.1619T>C |
p.I540T |
Missense |
12/25 |
- |
1 |
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 |
9-5070032-A-G |
c.1621A>G |
p.R541G |
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 |
- |
2 |
9-5070033-GAAATGA-G |
c.1624_1629del |
p.N542_E543del |
InFrameDeletion |
12/25 |
- |
4 |
9-5070035-AA-GC |
c.1624_1625delinsGC |
p.N542A |
Missense |
12/25 |
- |
1 |
9-5070035-AATGAAG-A |
c.1627_1632del |
p.E543_D544del |
InFrameDeletion |
12/25 |
- |
1 |
9-5070038-G-A |
c.1627G>A |
p.E543K |
Missense |
12/25 |
- |
1 |
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 |
9-5070039-A-C |
c.1628A>C |
p.E543A |
Missense |
12/25 |
- |
2 |
9-5070039-A-G |
c.1628A>G |
p.E543G |
Missense |
12/25 |
- |
1 |
9-5070037-TGAA-T |
c.1629_1631del |
p.E543del |
InFrameDeletion |
12/25 |
- |
34 |
9-5070040-A-C |
c.1629A>C |
p.E543D |
Missense |
12/25 |
- |
2 |
9-5070040-A-T |
c.1629A>T |
p.E543D |
Missense |
12/25 |
- |
2 |
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 |
9-5070044-T-G |
c.1633T>G |
p.L545V |
Missense |
12/25 |
- |
2 |
9-5070044-TTTG-T |
c.1633_1635del |
p.L545del |
InFrameDeletion |
12/25 |
- |
2 |
9-5070045-TG-GT |
c.1634_1635delinsGT |
p.L545C |
Missense |
12/25 |
- |
1 |
9-5070050-T-C |
c.1639T>C |
p.F547L |
Missense |
12/25 |
- |
6 |
9-5070052-T-A |
c.1641T>A |
p.F547L |
Missense |
12/25 |
- |
6 |
9-5070052-T-G |
c.1641T>G |
p.F547L |
Missense |
12/25 |
- |
6 |
9-5070054-T-G |
c.1641+2T>G |
- |
IntronicSNV |
- |
12/24 |
1 |
9-5070058-T-C |
c.1641+6T>C |
- |
IntronicSNV |
- |
12/24 |
1 |
9-5070182-C-T |
c.1641+130C>T |
- |
IntronicSNV |
- |
12/24 |
1 |
9-5070831-C-G |
c.1641+779C>G |
- |
IntronicSNV |
- |
12/24 |
37 |
9-5071049-G-A |
c.1641+997G>A |
- |
IntronicSNV |
- |
12/24 |
4 |
9-5071942-C-G |
c.1642-550C>G |
- |
IntronicSNV |
- |
12/24 |
1 |
9-5072182-C-T |
c.1642-310C>T |
- |
IntronicSNV |
- |
12/24 |
2 |
9-5072495-G-A |
c.1645G>A |
p.E549K |
Missense |
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 |
9-5072502-T-C |
c.1652T>C |
p.L551P |
Missense |
13/25 |
- |
1 |
9-5072505-G-C |
c.1655G>C |
p.G552A |
Missense |
13/25 |
- |
2 |
9-5072511-G-C |
c.1661G>C |
p.G554A |
Missense |
13/25 |
- |
1 |
9-5072514-C-G |
c.1664C>G |
p.T555S |
Missense |
13/25 |
- |
1 |
9-5072516-T-G |
c.1666T>G |
p.F556V |
Missense |
13/25 |
- |
13 |
9-5072523-A-G |
c.1673A>G |
p.K558R |
Missense |
13/25 |
- |
1 |
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 |
9-5072537-G-A |
c.1687G>A |
p.V563I |
Missense |
13/25 |
- |
3 |
9-5072540-C-T |
c.1690C>T |
p.R564* |
Nonsense |
13/25 |
- |
2 |
9-5072541-G-A |
c.1691G>A |
p.R564Q |
Missense |
13/25 |
- |
20 |
9-5072541-G-T |
c.1691G>T |
p.R564L |
Missense |
13/25 |
- |
6 |
9-5072543-A-T |
c.1693A>T |
p.R565* |
Nonsense |
13/25 |
- |
1 |
9-5072546-GA-TC |
c.1696_1697inv |
p.E566S |
Missense |
13/25 |
- |
1 |
9-5072550-T-C |
c.1700T>C |
p.V567A |
Missense |
13/25 |
- |
4 |
9-5072556-A-C |
c.1706A>C |
p.D569A |
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-C |
c.1708T>C |
p.Y570H |
Missense |
13/25 |
- |
1 |
9-5072559-A-T |
c.1709A>T |
p.Y570F |
Missense |
13/25 |
- |
9 |
9-5072561-G-A |
c.1711G>A |
p.G571S |
Missense |
13/25 |
- |
17 |
9-5072561-G-C |
c.1711G>C |
p.G571R |
Missense |
13/25 |
- |
3 |
9-5072561-G-T |
c.1711G>T |
p.G571C |
Missense |
13/25 |
- |
1 |
9-5072564-C-T |
c.1714C>T |
p.Q572* |
Nonsense |
13/25 |
- |
1 |
9-5072571-A-G |
c.1721A>G |
p.H574R |
Missense |
13/25 |
- |
3 |
9-5072576-A-G |
c.1726A>G |
p.T576A |
Missense |
13/25 |
- |
1 |
9-5072579-G-C |
c.1729G>C |
p.E577Q |
Missense |
13/25 |
- |
1 |
9-5072585-C-T |
c.1735C>T |
p.L579F |
Missense |
13/25 |
- |
6 |
9-5072591-AA-GC |
c.1741_1742delinsGC |
p.K581A |
Missense |
13/25 |
- |
7 |
9-5072592-A-G |
c.1742A>G |
p.K581R |
Missense |
13/25 |
- |
3 |
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 |
9-5072602-T-A |
c.1752T>A |
p.D584E |
Missense |
13/25 |
- |
1 |
9-5072607-C-G |
c.1757C>G |
p.A586G |
Missense |
13/25 |
- |
1 |
9-5072609-C-A |
c.1759C>A |
p.H587N |
Missense |
13/25 |
- |
7 |
9-5072609-C-T |
c.1759C>T |
p.H587Y |
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 |
- |
3 |
9-5072613-GA-TG |
c.1763_1764delinsTG |
p.R588M |
Missense |
13/25 |
- |
2 |
9-5072617-C-A |
c.1767C>A |
p.N589K |
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 |
9-5072619-A-T |
c.1769A>T |
p.Y590F |
Missense |
13/25 |
- |
2 |
9-5072622-C-T |
c.1772C>T |
p.S591L |
Missense |
13/25 |
- |
7 |
9-5072624-G-A |
c.1774G>A |
p.E592K |
Missense |
13/25 |
- |
2 |
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 |
- |
1 |
9-5072625-A-C |
c.1775A>C |
p.E592A |
Missense |
13/25 |
- |
2 |
9-5072626-GGT-G |
c.1776+5_1776+6del |
- |
SpliceDonorDeletion |
- |
13/24 |
1 |
9-5072633-A-G |
c.1776+7A>G |
- |
IntronicSNV |
- |
13/24 |
1 |
9-5072637-T-A |
c.1776+11T>A |
- |
IntronicSNV |
- |
13/24 |
1 |
9-5072679-T-A |
c.1776+53T>A |
- |
IntronicSNV |
- |
13/24 |
1 |
9-5072798-T-C |
c.1776+172T>C |
- |
IntronicSNV |
- |
13/24 |
6 |
9-5072846-G-A |
c.1776+220G>A |
- |
IntronicSNV |
- |
13/24 |
11 |
9-5073699-C-T |
c.1778C>T |
p.S593F |
Missense |
14/25 |
- |
1 |
9-5073701-TT-GC |
c.1780_1781delinsGC |
p.F594A |
Missense |
14/25 |
- |
2 |
9-5073699-CTTTCT-C |
c.1781_1785del |
p.F594* |
Frameshift |
14/25 |
- |
1 |
9-5073704-T-A |
c.1783T>A |
p.F595I |
Missense |
14/25 |
- |
1 |
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 |
9-5073705-T-A |
c.1784T>A |
p.F595Y |
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 |
9-5073707-G-A |
c.1786G>A |
p.E596K |
Missense |
14/25 |
- |
1 |
9-5073707-GA-AG |
c.1786_1787delinsAG |
p.E596R |
Missense |
14/25 |
- |
4 |
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 |
- |
1 |
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 |
9-5073713-G-A |
c.1792G>A |
p.A598T |
Missense |
14/25 |
- |
2 |
9-5073717-G-A |
c.1796G>A |
p.S599N |
Missense |
14/25 |
- |
1 |
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 |
- |
1 |
9-5073718-T-G |
c.1797T>G |
p.S599R |
Missense |
14/25 |
- |
1 |
9-5073719-A-G |
c.1798A>G |
p.M600V |
Missense |
14/25 |
- |
1 |
9-5073720-T-G |
c.1799T>G |
p.M600R |
Missense |
14/25 |
- |
1 |
9-5073728-A-C |
c.1807A>C |
p.K603Q |
Missense |
14/25 |
- |
1 |
9-5073728-A-G |
c.1807A>G |
p.K603E |
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 |
- |
1 |
9-5073739-C-A |
c.1818C>A |
p.H606Q |
Missense |
14/25 |
- |
4 |
9-5073739-C-G |
c.1818C>G |
p.H606Q |
Missense |
14/25 |
- |
4 |
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 |
- |
1 |
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 |
- |
13 |
9-5073742-G-T |
c.1821G>T |
p.K607N |
Missense |
14/25 |
- |
4 |
9-5073743-C-A |
c.1822C>A |
p.H608N |
Missense |
14/25 |
- |
9 |
9-5073743-C-T |
c.1822C>T |
p.H608Y |
Missense |
14/25 |
- |
3 |
9-5073747-T-C |
c.1826T>C |
p.L609S |
Missense |
14/25 |
- |
1 |
9-5073752-T-G |
c.1831T>G |
p.L611V |
Missense |
14/25 |
- |
6 |
9-5073749-GT-G |
c.1832del |
p.L611* |
Frameshift |
14/25 |
- |
1 |
9-5073753-T-C |
c.1832T>C |
p.L611S |
Missense |
14/25 |
- |
22 |
9-5073758-TAT-GAG |
c.1837_1839delinsGAG |
p.Y613E |
Missense |
14/25 |
- |
4 |
9-5073759-A-T |
c.1838A>T |
p.Y613F |
Missense |
14/25 |
- |
4 |
9-5073760-T-C |
c.1839T>C |
p.Y613= |
Synonymous |
14/25 |
- |
1 |
9-5073764-G-C |
c.1843G>C |
p.V615L |
Missense |
14/25 |
- |
4 |
9-5073764-G-T |
c.1843G>T |
p.V615L |
Missense |
14/25 |
- |
4 |
9-5073768-G-A |
c.1847G>A |
p.C616Y |
Missense |
14/25 |
- |
8 |
9-5073768-TGTGTC-T |
c.1847_1851del |
p.C616Lfs*25 |
Frameshift |
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 |
- |
36 |
9-5073770-G-C |
c.1849G>C |
p.V617L |
Missense |
14/25 |
- |
3 |
9-5073770-G-T |
c.1849G>T |
p.V617F |
Missense |
14/25 |
- |
3805 |
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 |
- |
1 |
9-5073771-T-C |
c.1850T>C |
p.V617A |
Missense |
14/25 |
- |
3 |
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 |
- |
9 |
9-5073772-C-G |
c.1851C>G |
p.V617= |
Synonymous |
14/25 |
- |
9 |
9-5073772-C-T |
c.1851C>T |
p.V617= |
Synonymous |
14/25 |
- |
9 |
9-5073773-T-C |
c.1852T>C |
p.C618R |
Missense |
14/25 |
- |
15 |
9-5073774-G-A |
c.1853G>A |
p.C618Y |
Missense |
14/25 |
- |
1 |
9-5073774-G-T |
c.1853G>T |
p.C618F |
Missense |
14/25 |
- |
3 |
9-5073776-G-C |
c.1855G>C |
p.G619R |
Missense |
14/25 |
- |
1 |
9-5073781-C-A |
c.1860C>A |
p.D620E |
Missense |
14/25 |
- |
10 |
9-5073781-C-G |
c.1860C>G |
p.D620E |
Missense |
14/25 |
- |
2 |
9-5073782-G-A |
c.1861G>A |
p.E621K |
Missense |
14/25 |
- |
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 |
9-5074189-T-C |
c.1864+404T>C |
- |
IntronicSNV |
- |
14/24 |
29 |
9-5076613-G-C |
c.1865-840G>C |
- |
IntronicSNV |
- |
14/24 |
3 |
9-5076691-C-A |
c.1865-762C>A |
- |
IntronicSNV |
- |
14/24 |
13 |
9-5076691-C-G |
c.1865-762C>G |
- |
IntronicSNV |
- |
14/24 |
13 |
9-5077453-A-T |
c.1865A>T |
p.N622I |
Missense |
15/25 |
- |
4 |
9-5077455-A-G |
c.1867A>G |
p.I623V |
Missense |
15/25 |
- |
1 |
9-5077459-T-C |
c.1871T>C |
p.L624P |
Missense |
15/25 |
- |
3 |
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 |
- |
14 |
9-5077468-A-C |
c.1880A>C |
p.E627A |
Missense |
15/25 |
- |
3 |
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 |
- |
2 |
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-TT-GG |
c.1891_1892delinsGG |
p.F631G |
Missense |
15/25 |
- |
1 |
9-5077485-T-G |
c.1897T>G |
p.S633A |
Missense |
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 |
- |
2 |
9-5077489-T-G |
c.1901T>G |
p.L634R |
Missense |
15/25 |
- |
1 |
9-5077491-G-T |
c.1903G>T |
p.D635Y |
Missense |
15/25 |
- |
1 |
9-5077495-ACATATCTGAAAAAGAATAAAAAT-A |
c.1907_1929del |
p.T636Mfs*9 |
Frameshift |
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 |
9-5077514-A-T |
c.1926A>T |
p.K642N |
Missense |
15/25 |
- |
1 |
9-5077521-A-G |
c.1933A>G |
p.I645V |
Missense |
15/25 |
- |
3 |
9-5077524-A-G |
c.1936A>G |
p.N646D |
Missense |
15/25 |
- |
1 |
9-5077531-T-C |
c.1943T>C |
p.L648S |
Missense |
15/25 |
- |
1 |
9-5077536-A-G |
c.1948A>G |
p.K650E |
Missense |
15/25 |
- |
1 |
9-5077544-A-G |
c.1956A>G |
p.E652= |
Synonymous |
15/25 |
- |
1 |
9-5077560-G-A |
c.1972G>A |
p.A658T |
Missense |
15/25 |
- |
1 |
9-5077560-G-T |
c.1972G>T |
p.A658S |
Missense |
15/25 |
- |
1 |
9-5077563-TG-GC |
c.1975_1976delinsGC |
p.W659A |
Missense |
15/25 |
- |
4 |
9-5077566-G-A |
c.1978G>A |
p.A660T |
Missense |
15/25 |
- |
1 |
9-5077571-G-A |
c.1983G>A |
p.M661I |
Missense |
15/25 |
- |
1 |
9-5077574-T-A |
c.1986T>A |
p.H662Q |
Missense |
15/25 |
- |
1 |
9-5077574-T-G |
c.1986T>G |
p.H662Q |
Missense |
15/25 |
- |
1 |
9-5078117-T-C |
c.1993-189T>C |
- |
IntronicSNV |
- |
15/24 |
10 |
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 |
- |
1 |
9-5078309-GA-AG |
c.1996_1997delinsAG |
p.E666R |
Missense |
16/25 |
- |
1 |
9-5078310-A-C |
c.1997A>C |
p.E666A |
Missense |
16/25 |
- |
1 |
9-5078325-A-G |
c.2012A>G |
p.H671R |
Missense |
16/25 |
- |
1 |
9-5078327-G-A |
c.2014G>A |
p.G672R |
Missense |
16/25 |
- |
1 |
9-5078330-A-G |
c.2017A>G |
p.N673D |
Missense |
16/25 |
- |
1 |
9-5078338-T-A |
c.2025T>A |
p.C675* |
Nonsense |
16/25 |
- |
1 |
9-5078342-A-G |
c.2029A>G |
p.K677E |
Missense |
16/25 |
- |
2 |
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 |
- |
1 |
9-5078351-CT-GC |
c.2038_2039delinsGC |
p.L680A |
Missense |
16/25 |
- |
1 |
9-5078352-T-C |
c.2039T>C |
p.L680P |
Missense |
16/25 |
- |
1 |
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 |
- |
24 |
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 |
- |
1 |
9-5078358-T-C |
c.2045T>C |
p.I682T |
Missense |
16/25 |
- |
2 |
9-5078359-C-CGGTCCT |
c.2046_2047insGGTCCT |
p.I682_R683insGP |
InFrameInsertion |
16/25 |
- |
1 |
9-5078360-A-G |
c.2047A>G |
p.R683G |
Missense |
16/25 |
- |
113 |
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 |
- |
6 |
9-5078361-G-C |
c.2048G>C |
p.R683T |
Missense |
16/25 |
- |
7 |
9-5078362-A-C |
c.2049A>C |
p.R683S |
Missense |
16/25 |
- |
12 |
9-5078362-A-T |
c.2049A>T |
p.R683S |
Missense |
16/25 |
- |
41 |
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 |
9-5078366-G-A |
c.2053G>A |
p.E685K |
Missense |
16/25 |
- |
2 |
9-5078369-AGAC-A |
c.2056_2058del |
p.D686del |
InFrameDeletion |
16/25 |
- |
1 |
9-5078372-AG-CA |
c.2059_2060delinsCA |
p.R687Q |
Missense |
16/25 |
- |
4 |
9-5078372-AG-TA |
c.2059_2060delinsTA |
p.R687* |
Nonsense |
16/25 |
- |
1 |
9-5078384-A-C |
c.2071A>C |
p.N691H |
Missense |
16/25 |
- |
2 |
9-5078387-C-G |
c.2074C>G |
p.P692A |
Missense |
16/25 |
- |
1 |
9-5078393-T-C |
c.2080T>C |
p.F694L |
Missense |
16/25 |
- |
7 |
9-5078395-C-A |
c.2082C>A |
p.F694L |
Missense |
16/25 |
- |
7 |
9-5078395-C-G |
c.2082C>G |
p.F694L |
Missense |
16/25 |
- |
7 |
9-5078394-T-C |
c.2081T>C |
p.F694S |
Missense |
16/25 |
- |
1 |
9-5078396-A-G |
c.2083A>G |
p.I695V |
Missense |
16/25 |
- |
2 |
9-5078404-T-A |
c.2091T>A |
p.L697= |
Synonymous |
16/25 |
- |
1 |
9-5078404-T-C |
c.2091T>C |
p.L697= |
Synonymous |
16/25 |
- |
1 |
9-5078404-T-G |
c.2091T>G |
p.L697= |
Synonymous |
16/25 |
- |
1 |
9-5078405-AG-TT |
c.2092_2093delinsTT |
p.S698F |
Missense |
16/25 |
- |
1 |
9-5078408-G-A |
c.2095G>A |
p.D699N |
Missense |
16/25 |
- |
1 |
9-5078409-A-C |
c.2096A>C |
p.D699A |
Missense |
16/25 |
- |
1 |
9-5078417-A-G |
c.2104A>G |
p.I702V |
Missense |
16/25 |
- |
1 |
9-5078423-A-C |
c.2110A>C |
p.I704L |
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 |
9-5078430-T-C |
c.2117T>C |
p.V706A |
Missense |
16/25 |
- |
1 |
9-5078432-TT-GC |
c.2119_2120delinsGC |
p.L707A |
Missense |
16/25 |
- |
1 |
9-5078441-G-A |
c.2128G>A |
p.D710N |
Missense |
16/25 |
- |
1 |
9-5078450-T-G |
c.2131+6T>G |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5079324-A-C |
c.2131+880A>C |
- |
IntronicSNV |
- |
16/24 |
1 |
9-5080231-C-T |
c.2134C>T |
p.L712F |
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 |
9-5080241-G-A |
c.2144G>A |
p.R715K |
Missense |
17/25 |
- |
1 |
9-5080241-G-C |
c.2144G>C |
p.R715T |
Missense |
17/25 |
- |
1 |
9-5080256-C-T |
c.2159C>T |
p.P720L |
Missense |
17/25 |
- |
1 |
9-5080261-G-A |
c.2164G>A |
p.E722K |
Missense |
17/25 |
- |
1 |
9-5080268-T-C |
c.2171T>C |
p.I724T |
Missense |
17/25 |
- |
5 |
9-5080288-A-T |
c.2191A>T |
p.N731Y |
Missense |
17/25 |
- |
1 |
9-5080293-G-C |
c.2196G>C |
p.L732F |
Missense |
17/25 |
- |
1 |
9-5080294-G-C |
c.2197G>C |
p.A733P |
Missense |
17/25 |
- |
1 |
9-5080312-T-G |
c.2215T>G |
p.F739V |
Missense |
17/25 |
- |
1 |
9-5080312-TT-CG |
c.2215_2216delinsCG |
p.F739R |
Missense |
17/25 |
- |
4 |
9-5080316-G-A |
c.2219G>A |
p.G740D |
Missense |
17/25 |
- |
1 |
9-5080316-GT-AG |
c.2219_2220delinsAG |
p.G740E |
Missense |
17/25 |
- |
1 |
9-5080322-C-T |
c.2225C>T |
p.T742I |
Missense |
17/25 |
- |
1 |
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 |
9-5080330-G-A |
c.2233G>A |
p.E745K |
Missense |
17/25 |
- |
1 |
9-5080346-G-A |
c.2249G>A |
p.G750E |
Missense |
17/25 |
- |
1 |
9-5080352-A-C |
c.2255A>C |
p.K752T |
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-G |
c.2265T>G |
p.S755R |
Missense |
17/25 |
- |
10 |
9-5080364-C-T |
c.2267C>T |
p.A756V |
Missense |
17/25 |
- |
1 |
9-5080378-A-G |
c.2281A>G |
p.R761G |
Missense |
17/25 |
- |
1 |
9-5080381-G-C |
c.2283+1G>C |
- |
IntronicSNV |
- |
17/24 |
1 |
9-5080534-A-G |
c.2285A>G |
p.K762R |
Missense |
18/25 |
- |
1 |
9-5080545-TAT-GAG |
c.2296_2298delinsGAG |
p.Y766E |
Missense |
18/25 |
- |
1 |
9-5080566-C-G |
c.2317C>G |
p.P773A |
Missense |
18/25 |
- |
1 |
9-5080572-C-T |
c.2323C>T |
p.P775S |
Missense |
18/25 |
- |
1 |
9-5080578-TG-GC |
c.2329_2330delinsGC |
p.W777A |
Missense |
18/25 |
- |
4 |
9-5080579-G-A |
c.2330G>A |
p.W777* |
Nonsense |
18/25 |
- |
1 |
9-5080580-G-A |
c.2331G>A |
p.W777* |
Nonsense |
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 |
- |
1 |
9-5080609-G-A |
c.2360G>A |
p.C787Y |
Missense |
18/25 |
- |
1 |
9-5080612-T-C |
c.2363T>C |
p.M788T |
Missense |
18/25 |
- |
1 |
9-5080613-G-A |
c.2364G>A |
p.M788I |
Missense |
18/25 |
- |
1 |
9-5080613-G-C |
c.2364G>C |
p.M788I |
Missense |
18/25 |
- |
1 |
9-5080613-G-T |
c.2364G>T |
p.M788I |
Missense |
18/25 |
- |
1 |
9-5080614-G-A |
c.2365G>A |
p.D789N |
Missense |
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 |
9-5080622-A-G |
c.2373A>G |
p.E791= |
Synonymous |
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 |
9-5080629-TT-CA |
c.2380_2381delinsCA |
p.F794H |
Missense |
18/25 |
- |
4 |
9-5080629-TTC-CAA |
c.2380_2382delinsCAA |
p.F794Q |
Missense |
18/25 |
- |
1 |
9-5080634-G-T |
c.2385G>T |
p.R795S |
Missense |
18/25 |
- |
2 |
9-5080639-C-G |
c.2390C>G |
p.S797C |
Missense |
18/25 |
- |
2 |
9-5080645-GA-TG |
c.2396_2397delinsTG |
p.R799M |
Missense |
18/25 |
- |
1 |
9-5080650-A-C |
c.2401A>C |
p.I801L |
Missense |
18/25 |
- |
1 |
9-5080651-T-G |
c.2402T>G |
p.I801S |
Missense |
18/25 |
- |
1 |
9-5080657-G-A |
c.2408G>A |
p.R803Q |
Missense |
18/25 |
- |
2 |
9-5080660-A-G |
c.2411A>G |
p.D804G |
Missense |
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 |
- |
3 |
9-5080674-T-A |
c.2425T>A |
p.F809I |
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 |
9-5080680-C-T |
c.2431C>T |
p.P811S |
Missense |
18/25 |
- |
1 |
9-5080683-G-T |
c.2434G>T |
p.D812Y |
Missense |
18/25 |
- |
1 |
9-5081334-C-G |
c.2435-391C>G |
- |
IntronicSNV |
- |
18/24 |
2 |
9-5081334-C-T |
c.2435-391C>T |
- |
IntronicSNV |
- |
18/24 |
2 |
9-5081585-A-G |
c.2435-140A>G |
- |
IntronicSNV |
- |
18/24 |
1 |
9-5081728-A-T |
c.2438A>T |
p.Y813F |
Missense |
19/25 |
- |
7 |
9-5081730-GA-TC |
c.2440_2441inv |
p.E814S |
Missense |
19/25 |
- |
1 |
9-5081734-T-C |
c.2444T>C |
p.L815P |
Missense |
19/25 |
- |
3 |
9-5081748-G-T |
c.2458G>T |
p.D820Y |
Missense |
19/25 |
- |
1 |
9-5081775-G-A |
c.2485G>A |
p.A829T |
Missense |
19/25 |
- |
1 |
9-5081778-C-T |
c.2488C>T |
p.L830= |
Synonymous |
19/25 |
- |
1 |
9-5081780-G-A |
c.2490G>A |
p.L830= |
Synonymous |
19/25 |
- |
11 |
9-5081780-G-C |
c.2490G>C |
p.L830= |
Synonymous |
19/25 |
- |
4 |
9-5081780-G-T |
c.2490G>T |
p.L830= |
Synonymous |
19/25 |
- |
1 |
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 |
- |
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 |
- |
2 |
9-5081794-C-G |
c.2504C>G |
p.A835G |
Missense |
19/25 |
- |
1 |
9-5081805-C-A |
c.2515C>A |
p.R839= |
Synonymous |
19/25 |
- |
1 |
9-5081805-C-T |
c.2515C>T |
p.R839W |
Missense |
19/25 |
- |
1 |
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 |
9-5081808-G-A |
c.2518G>A |
p.D840N |
Missense |
19/25 |
- |
2 |
9-5081816-A-C |
c.2526A>C |
p.T842= |
Synonymous |
19/25 |
- |
1 |
9-5081816-A-G |
c.2526A>G |
p.T842= |
Synonymous |
19/25 |
- |
1 |
9-5081816-A-T |
c.2526A>T |
p.T842= |
Synonymous |
19/25 |
- |
1 |
9-5081820-T-C |
c.2530T>C |
p.F844L |
Missense |
19/25 |
- |
1 |
9-5081826-G-A |
c.2536G>A |
p.E846K |
Missense |
19/25 |
- |
1 |
9-5081828-G-C |
c.2538G>C |
p.E846D |
Missense |
19/25 |
- |
9 |
9-5081828-G-T |
c.2538G>T |
p.E846D |
Missense |
19/25 |
- |
6 |
9-5081830-G-A |
c.2540G>A |
p.R847K |
Missense |
19/25 |
- |
1 |
9-5081837-G-C |
c.2547G>C |
p.L849F |
Missense |
19/25 |
- |
1 |
9-5081837-G-T |
c.2547G>T |
p.L849F |
Missense |
19/25 |
- |
1 |
9-5081845-T-A |
c.2555T>A |
p.L852Q |
Missense |
19/25 |
- |
1 |
9-5081848-A-C |
c.2558A>C |
p.Q853P |
Missense |
19/25 |
- |
1 |
9-5081859-AA-GC |
c.2569_2570delinsGC |
p.K857A |
Missense |
19/25 |
- |
1 |
9-5082106-G-T |
c.2571+245G>T |
- |
IntronicSNV |
- |
19/24 |
2 |
9-5082333-A-G |
c.2571+472A>G |
- |
IntronicSNV |
- |
19/24 |
1 |
9-5083173-C-T |
c.2571+1312C>T |
- |
IntronicSNV |
- |
19/24 |
2 |
9-5083533-C-G |
c.2571+1672C>G |
- |
IntronicSNV |
- |
19/24 |
1 |
9-5083533-C-T |
c.2571+1672C>T |
- |
IntronicSNV |
- |
19/24 |
1 |
9-5084049-G-A |
c.2571+2188G>A |
- |
IntronicSNV |
- |
19/24 |
10 |
9-5084049-G-T |
c.2571+2188G>T |
- |
IntronicSNV |
- |
19/24 |
10 |
9-5084837-T-A |
c.2571+2976T>A |
- |
IntronicSNV |
- |
19/24 |
3 |
9-5085859-G-C |
c.2572-3815G>C |
- |
IntronicSNV |
- |
19/24 |
1 |
9-5085859-G-T |
c.2572-3815G>T |
- |
IntronicSNV |
- |
19/24 |
1 |
9-5087087-C-T |
c.2572-2587C>T |
- |
IntronicSNV |
- |
19/24 |
2 |
9-5087474-A-ACTAGTAGTTCTTTTACT |
c.2572-2198_2572-2197insAGTAGTTCTTTTACTCT |
- |
IntronicInsertion |
- |
19/24 |
1 |
9-5087474-A-ACTGGTAGTT |
c.2572-2198_2572-2197insGGTAGTTCT |
- |
IntronicInsertion |
- |
19/24 |
1 |
9-5087474-A-ACTGGTAGTTATTTTACT |
c.2572-2198_2572-2197insGGTAGTTATTTTACTCT |
- |
IntronicInsertion |
- |
19/24 |
1 |
9-5087474-A-ACTGGTAGTTCCTTTACT |
c.2572-2198_2572-2197insGGTAGTTCCTTTACTCT |
- |
IntronicInsertion |
- |
19/24 |
1 |
9-5087474-A-ACTGGTAGTTCTTTTACT |
c.2572-2198_2572-2197insGGTAGTTCTTTTACTCT |
- |
IntronicInsertion |
- |
19/24 |
1 |
9-5087474-A-ACTGGTAGTTCTTTTCTTTTACT |
c.2572-2198_2572-2197insGGTAGTTCTTTTCTTTTACTCT |
- |
IntronicInsertion |
- |
19/24 |
1 |
9-5087474-A-ACTGGTAGTTCTTTTGCT |
c.2572-2198_2572-2197insGGTAGTTCTTTTGCTCT |
- |
IntronicInsertion |
- |
19/24 |
1 |
9-5087495-C-G |
c.2572-2179C>G |
- |
IntronicSNV |
- |
19/24 |
2 |
9-5087495-C-T |
c.2572-2179C>T |
- |
IntronicSNV |
- |
19/24 |
2 |
9-5088903-T-A |
c.2572-771T>A |
- |
IntronicSNV |
- |
19/24 |
2 |
9-5088903-T-C |
c.2572-771T>C |
- |
IntronicSNV |
- |
19/24 |
2 |
9-5089661-A-G |
c.2572-13A>G |
- |
IntronicSNV |
- |
19/24 |
1 |
9-5089674-G-A |
c.2572G>A |
p.G858S |
Missense |
20/25 |
- |
1 |
9-5089675-G-T |
c.2573G>T |
p.G858V |
Missense |
20/25 |
- |
1 |
9-5089679-T-C |
c.2577T>C |
p.N859= |
Synonymous |
20/25 |
- |
1 |
9-5089683-G-T |
c.2581G>T |
p.G861W |
Missense |
20/25 |
- |
2 |
9-5089692-G-A |
c.2590G>A |
p.E864K |
Missense |
20/25 |
- |
10 |
9-5089698-T-A |
c.2596T>A |
p.C866S |
Missense |
20/25 |
- |
2 |
9-5089698-TG-GC |
c.2596_2597delinsGC |
p.C866A |
Missense |
20/25 |
- |
1 |
9-5089699-G-C |
c.2597G>C |
p.C866S |
Missense |
20/25 |
- |
2 |
9-5089701-C-T |
c.2599C>T |
p.R867W |
Missense |
20/25 |
- |
2 |
9-5089702-G-A |
c.2600G>A |
p.R867Q |
Missense |
20/25 |
- |
34 |
9-5089705-A-G |
c.2603A>G |
p.Y868C |
Missense |
20/25 |
- |
1 |
9-5089705-A-T |
c.2603A>T |
p.Y868F |
Missense |
20/25 |
- |
3 |
9-5089710-C-T |
c.2608C>T |
p.P870S |
Missense |
20/25 |
- |
1 |
9-5089713-CT-AC |
c.2611_2612delinsAC |
p.L871T |
Missense |
20/25 |
- |
2 |
9-5089714-T-C |
c.2612T>C |
p.L871P |
Missense |
20/25 |
- |
1 |
9-5089719-G-A |
c.2617G>A |
p.D873N |
Missense |
20/25 |
- |
14 |
9-5089719-GAC-AAG |
c.2617_2619delinsAAG |
p.D873K |
Missense |
20/25 |
- |
1 |
9-5089719-GA-CG |
c.2617_2618delinsCG |
p.D873R |
Missense |
20/25 |
- |
1 |
9-5089721-C-A |
c.2619C>A |
p.D873E |
Missense |
20/25 |
- |
1 |
9-5089721-C-G |
c.2619C>G |
p.D873E |
Missense |
20/25 |
- |
1 |
9-5089725-A-G |
c.2623A>G |
p.T875A |
Missense |
20/25 |
- |
1 |
9-5089726-C-A |
c.2624C>A |
p.T875N |
Missense |
20/25 |
- |
47 |
9-5089744-T-C |
c.2642T>C |
p.V881A |
Missense |
20/25 |
- |
1 |
9-5089746-AAA-GAC |
c.2644_2646delinsGAC |
p.K882D |
Missense |
20/25 |
- |
2 |
9-5089746-AA-GC |
c.2644_2645delinsGC |
p.K882A |
Missense |
20/25 |
- |
3 |
9-5089746-A-G |
c.2644A>G |
p.K882E |
Missense |
20/25 |
- |
19 |
9-5089747-A-G |
c.2645A>G |
p.K882R |
Missense |
20/25 |
- |
4 |
9-5089749-A-G |
c.2647A>G |
p.K883E |
Missense |
20/25 |
- |
2 |
9-5089752-CT-AG |
c.2650_2651inv |
p.L884S |
Missense |
20/25 |
- |
1 |
9-5089753-T-C |
c.2651T>C |
p.L884P |
Missense |
20/25 |
- |
10 |
9-5089770-G-A |
c.2668G>A |
p.E890K |
Missense |
20/25 |
- |
3 |
9-5089770-G-T |
c.2668G>T |
p.E890* |
Nonsense |
20/25 |
- |
1 |
9-5089771-A-G |
c.2669A>G |
p.E890G |
Missense |
20/25 |
- |
1 |
9-5089771-A-T |
c.2669A>T |
p.E890V |
Missense |
20/25 |
- |
1 |
9-5089776-C-G |
c.2674C>G |
p.L892V |
Missense |
20/25 |
- |
2 |
9-5089777-CTAAGAGACTTTGAAAGGGAAATT-C |
c.2675_2697del |
p.L892Rfs*9 |
Frameshift |
20/25 |
- |
1 |
9-5089780-G-C |
c.2678G>C |
p.R893T |
Missense |
20/25 |
- |
1 |
9-5089783-A-G |
c.2681A>G |
p.D894G |
Missense |
20/25 |
- |
3 |
9-5089789-A-C |
c.2687A>C |
p.E896A |
Missense |
20/25 |
- |
1 |
9-5089798-T-A |
c.2696T>A |
p.I899N |
Missense |
20/25 |
- |
1 |
9-5089798-T-C |
c.2696T>C |
p.I899T |
Missense |
20/25 |
- |
3 |
9-5089799-T-A |
c.2697T>A |
p.I899= |
Synonymous |
20/25 |
- |
1 |
9-5089799-T-TA |
c.2697_2698insA |
p.E900Rfs*9 |
Frameshift |
20/25 |
- |
1 |
9-5089800-G-A |
c.2698G>A |
p.E900K |
Missense |
20/25 |
- |
1 |
9-5089800-G-C |
c.2698G>C |
p.E900Q |
Missense |
20/25 |
- |
1 |
9-5089801-A-C |
c.2699A>C |
p.E900A |
Missense |
20/25 |
- |
1 |
9-5089803-AT-GC |
c.2701_2702delinsGC |
p.I901A |
Missense |
20/25 |
- |
1 |
9-5089805-TCCTG-T |
c.2703_2706del |
p.L902Nfs*9 |
Frameshift |
20/25 |
- |
1 |
9-5089806-C-A |
c.2704C>A |
p.L902M |
Missense |
20/25 |
- |
2 |
9-5089809-A-AAATTTTAT |
c.2710_2711insTTTATAAT |
p.S904Ffs*11 |
Frameshift |
20/25 |
- |
1 |
9-5089812-T-C |
c.2710T>C |
p.S904P |
Missense |
20/25 |
- |
1 |
9-5089812-TC-CT |
c.2710_2711delinsCT |
p.S904L |
Missense |
20/25 |
- |
1 |
9-5089813-C-T |
c.2711C>T |
p.S904F |
Missense |
20/25 |
- |
1 |
9-5089815-C-A |
c.2713C>A |
p.L905I |
Missense |
20/25 |
- |
1 |
9-5089816-T-C |
c.2714T>C |
p.L905P |
Missense |
20/25 |
- |
1 |
9-5089821-C-A |
c.2719C>A |
p.H907N |
Missense |
20/25 |
- |
1 |
9-5089829-C-A |
c.2727C>A |
p.N909K |
Missense |
20/25 |
- |
1 |
9-5089829-C-G |
c.2727C>G |
p.N909K |
Missense |
20/25 |
- |
1 |
9-5089833-G-C |
c.2731G>C |
p.V911L |
Missense |
20/25 |
- |
1 |
9-5089833-G-T |
c.2731G>T |
p.V911L |
Missense |
20/25 |
- |
1 |
9-5089840-A-T |
c.2738A>T |
p.Y913F |
Missense |
20/25 |
- |
2 |
9-5089842-A-G |
c.2740A>G |
p.K914E |
Missense |
20/25 |
- |
1 |
9-5089845-G-A |
c.2743G>A |
p.G915R |
Missense |
20/25 |
- |
1 |
9-5089851-T-A |
c.2749T>A |
p.C917S |
Missense |
20/25 |
- |
1 |
9-5089851-TG-GC |
c.2749_2750delinsGC |
p.C917A |
Missense |
20/25 |
- |
1 |
9-5089852-G-C |
c.2750G>C |
p.C917S |
Missense |
20/25 |
- |
1 |
9-5089854-T-C |
c.2752T>C |
p.Y918H |
Missense |
20/25 |
- |
1 |
9-5089855-A-T |
c.2753A>T |
p.Y918F |
Missense |
20/25 |
- |
3 |
9-5089857-AG-CC |
c.2755_2756delinsCC |
p.S919P |
Missense |
20/25 |
- |
1 |
9-5089858-G-T |
c.2756G>T |
p.S919I |
Missense |
20/25 |
- |
1 |
9-5089861-C-T |
c.2759C>T |
p.A920V |
Missense |
20/25 |
- |
2 |
9-5090446-G-C |
c.2762G>C |
p.G921A |
Missense |
21/25 |
- |
2 |
9-5090448-C-T |
c.2764C>T |
p.R922W |
Missense |
21/25 |
- |
2 |
9-5090449-G-A |
c.2765G>A |
p.R922Q |
Missense |
21/25 |
- |
1 |
9-5090451-C-T |
c.2767C>T |
p.R923C |
Missense |
21/25 |
- |
3 |
9-5090452-G-A |
c.2768G>A |
p.R923H |
Missense |
21/25 |
- |
4 |
9-5090455-A-C |
c.2771A>C |
p.N924T |
Missense |
21/25 |
- |
1 |
9-5090457-C-A |
c.2773C>A |
p.L925I |
Missense |
21/25 |
- |
1 |
9-5090471-G-A |
c.2787G>A |
p.M929I |
Missense |
21/25 |
- |
4 |
9-5090471-G-C |
c.2787G>C |
p.M929I |
Missense |
21/25 |
- |
4 |
9-5090471-G-T |
c.2787G>T |
p.M929I |
Missense |
21/25 |
- |
4 |
9-5090473-A-G |
c.2789A>G |
p.E930G |
Missense |
21/25 |
- |
2 |
9-5090476-A-C |
c.2792A>C |
p.Y931S |
Missense |
21/25 |
- |
1 |
9-5090476-A-G |
c.2792A>G |
p.Y931C |
Missense |
21/25 |
- |
22 |
9-5090476-A-T |
c.2792A>T |
p.Y931F |
Missense |
21/25 |
- |
3 |
9-5090478-T-C |
c.2794T>C |
p.L932= |
Synonymous |
21/25 |
- |
1 |
9-5090480-A-G |
c.2796A>G |
p.L932= |
Synonymous |
21/25 |
- |
1 |
9-5090480-A-C |
c.2796A>C |
p.L932F |
Missense |
21/25 |
- |
1 |
9-5090480-A-T |
c.2796A>T |
p.L932F |
Missense |
21/25 |
- |
1 |
9-5090481-CC-GA |
c.2797_2798delinsGA |
p.P933E |
Missense |
21/25 |
- |
1 |
9-5090481-C-G |
c.2797C>G |
p.P933A |
Missense |
21/25 |
- |
1 |
9-5090482-C-A |
c.2798C>A |
p.P933Q |
Missense |
21/25 |
- |
1 |
9-5090482-C-G |
c.2798C>G |
p.P933R |
Missense |
21/25 |
- |
14 |
9-5090485-A-T |
c.2801A>T |
p.Y934F |
Missense |
21/25 |
- |
3 |
9-5090487-G-A |
c.2803G>A |
p.G935R |
Missense |
21/25 |
- |
16 |
9-5090487-G-C |
c.2803G>C |
p.G935R |
Missense |
21/25 |
- |
15 |
9-5090487-GGA-CAT |
c.2803_2805delinsCAT |
p.G935H |
Missense |
21/25 |
- |
1 |
9-5090487-GG-CA |
c.2803_2804delinsCA |
p.G935Q |
Missense |
21/25 |
- |
1 |
9-5090496-C-T |
c.2812C>T |
p.R938* |
Nonsense |
21/25 |
- |
3 |
9-5090497-G-A |
c.2813G>A |
p.R938Q |
Missense |
21/25 |
- |
13 |
9-5090497-G-T |
c.2813G>T |
p.R938L |
Missense |
21/25 |
- |
6 |
9-5090503-A-G |
c.2819A>G |
p.Y940C |
Missense |
21/25 |
- |
1 |
9-5090503-A-T |
c.2819A>T |
p.Y940F |
Missense |
21/25 |
- |
2 |
9-5090523-CG-GA |
c.2839_2840delinsGA |
p.R947E |
Missense |
21/25 |
- |
2 |
9-5090524-G-A |
c.2840G>A |
p.R947Q |
Missense |
21/25 |
- |
1 |
9-5090524-G-T |
c.2840G>T |
p.R947L |
Missense |
21/25 |
- |
1 |
9-5090541-C-A |
c.2857C>A |
p.L953I |
Missense |
21/25 |
- |
1 |
9-5090545-T-G |
c.2861T>G |
p.L954R |
Missense |
21/25 |
- |
1 |
9-5090546-G-A |
c.2862G>A |
p.L954= |
Synonymous |
21/25 |
- |
1 |
9-5090547-C-T |
c.2863C>T |
p.Q955* |
Nonsense |
21/25 |
- |
1 |
9-5090548-A-G |
c.2864A>G |
p.Q955R |
Missense |
21/25 |
- |
2 |
9-5090551-A-T |
c.2867A>T |
p.Y956F |
Missense |
21/25 |
- |
2 |
9-5090560-A-C |
c.2876A>C |
p.Q959P |
Missense |
21/25 |
- |
2 |
9-5090562-A-G |
c.2878A>G |
p.I960V |
Missense |
21/25 |
- |
6 |
9-5090609-C-A |
c.2886+39C>A |
- |
IntronicSNV |
- |
21/24 |
1 |
9-5090608-AC-A |
c.2886+40del |
- |
IntronicDeletion |
- |
21/24 |
1 |
9-5090641-G-A |
c.2886+71G>A |
- |
IntronicSNV |
- |
21/24 |
1 |
9-5090740-G-T |
c.2888G>T |
p.G963V |
Missense |
22/25 |
- |
1 |
9-5090745-G-A |
c.2893G>A |
p.E965K |
Missense |
22/25 |
- |
1 |
9-5090745-G-T |
c.2893G>T |
p.E965* |
Nonsense |
22/25 |
- |
1 |
9-5090748-TAT-GAG |
c.2896_2898delinsGAG |
p.Y966E |
Missense |
22/25 |
- |
1 |
9-5090749-A-T |
c.2897A>T |
p.Y966F |
Missense |
22/25 |
- |
2 |
9-5090758-CA-C |
c.2911del |
p.R971Gfs*27 |
Frameshift |
22/25 |
- |
1 |
9-5090763-A-G |
c.2911A>G |
p.R971G |
Missense |
22/25 |
- |
1 |
9-5090763-AG-GC |
c.2911_2912delinsGC |
p.R971A |
Missense |
22/25 |
- |
1 |
9-5090767-A-T |
c.2915A>T |
p.Y972F |
Missense |
22/25 |
- |
2 |
9-5090769-AT-GC |
c.2917_2918delinsGC |
p.I973A |
Missense |
22/25 |
- |
1 |
9-5090775-A-G |
c.2923A>G |
p.R975G |
Missense |
22/25 |
- |
1 |
9-5090778-G-A |
c.2926G>A |
p.D976N |
Missense |
22/25 |
- |
2 |
9-5090781-CT-GC |
c.2929_2930delinsGC |
p.L977A |
Missense |
22/25 |
- |
1 |
9-5090790-AGA-TGG |
c.2938_2940delinsTGG |
p.R980W |
Missense |
22/25 |
- |
1 |
9-5090794-A-G |
c.2942A>G |
p.N981S |
Missense |
22/25 |
- |
1 |
9-5090794-A-T |
c.2942A>T |
p.N981I |
Missense |
22/25 |
- |
1 |
9-5090796-A-G |
c.2944A>G |
p.I982V |
Missense |
22/25 |
- |
1 |
9-5090801-G-C |
c.2949G>C |
p.L983F |
Missense |
22/25 |
- |
3 |
9-5090801-G-T |
c.2949G>T |
p.L983F |
Missense |
22/25 |
- |
3 |
9-5090802-G-A |
c.2950G>A |
p.V984M |
Missense |
22/25 |
- |
1 |
9-5090805-G-A |
c.2953G>A |
p.E985K |
Missense |
22/25 |
- |
6 |
9-5090808-A-T |
c.2956A>T |
p.N986Y |
Missense |
22/25 |
- |
1 |
9-5090810-C-A |
c.2958C>A |
p.N986K |
Missense |
22/25 |
- |
1 |
9-5090810-C-G |
c.2958C>G |
p.N986K |
Missense |
22/25 |
- |
1 |
9-5090811-G-A |
c.2959G>A |
p.E987K |
Missense |
22/25 |
- |
1 |
9-5090811-G-C |
c.2959G>C |
p.E987Q |
Missense |
22/25 |
- |
1 |
9-5090813-G-C |
c.2961G>C |
p.E987D |
Missense |
22/25 |
- |
1 |
9-5090813-G-T |
c.2961G>T |
p.E987D |
Missense |
22/25 |
- |
1 |
9-5090823-AA-GC |
c.2971_2972delinsGC |
p.K991A |
Missense |
22/25 |
- |
1 |
9-5090830-G-C |
c.2978G>C |
p.G993A |
Missense |
22/25 |
- |
3 |
9-5090832-G-A |
c.2980G>A |
p.D994N |
Missense |
22/25 |
- |
2 |
9-5090833-GA-G |
c.2981del |
p.D994Vfs*4 |
Frameshift |
22/25 |
- |
1 |
9-5090838-G-A |
c.2986G>A |
p.G996R |
Missense |
22/25 |
- |
1 |
9-5090838-G-C |
c.2986G>C |
p.G996R |
Missense |
22/25 |
- |
1 |
9-5090848-A-G |
c.2996A>G |
p.K999R |
Missense |
22/25 |
- |
1 |
9-5090854-T-A |
c.3002T>A |
p.L1001* |
Nonsense |
22/25 |
- |
1 |
9-5090854-T-G |
c.3002T>G |
p.L1001W |
Missense |
22/25 |
- |
1 |
9-5090856-C-T |
c.3004C>T |
p.P1002S |
Missense |
22/25 |
- |
2 |
9-5090857-C-A |
c.3005C>A |
p.P1002Q |
Missense |
22/25 |
- |
1 |
9-5090868-G-A |
c.3016G>A |
p.E1006K |
Missense |
22/25 |
- |
1 |
9-5090869-A-C |
c.3017A>C |
p.E1006A |
Missense |
22/25 |
- |
1 |
9-5090872-A-G |
c.3020A>G |
p.Y1007C |
Missense |
22/25 |
- |
1 |
9-5090872-A-T |
c.3020A>T |
p.Y1007F |
Missense |
22/25 |
- |
9 |
9-5090875-A-T |
c.3023A>T |
p.Y1008F |
Missense |
22/25 |
- |
4 |
9-5090877-AAA-GAC |
c.3025_3027delinsGAC |
p.K1009D |
Missense |
22/25 |
- |
1 |
9-5090877-AA-GC |
c.3025_3026delinsGC |
p.K1009A |
Missense |
22/25 |
- |
1 |
9-5090883-AA-GC |
c.3031_3032delinsGC |
p.K1011A |
Missense |
22/25 |
- |
1 |
9-5090889-C-T |
c.3037C>T |
p.P1013S |
Missense |
22/25 |
- |
1 |
9-5090890-C-T |
c.3038C>T |
p.P1013L |
Missense |
22/25 |
- |
1 |
9-5090895-G-A |
c.3043G>A |
p.E1015K |
Missense |
22/25 |
- |
1 |
9-5090904-ATA-TTT |
c.3052_3054delinsTTT |
p.I1018F |
Missense |
22/25 |
- |
1 |
9-5090907-T-C |
c.3055T>C |
p.F1019L |
Missense |
22/25 |
- |
1 |
9-5090909-C-A |
c.3057C>A |
p.F1019L |
Missense |
22/25 |
- |
1 |
9-5090909-C-G |
c.3057C>G |
p.F1019L |
Missense |
22/25 |
- |
1 |
9-5090934-A-C |
c.3059+23A>C |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5090934-A-T |
c.3059+23A>T |
- |
IntronicSNV |
- |
22/24 |
3 |
9-5090966-ATTG-A |
c.3059+61_3059+63del |
- |
IntronicDeletion |
- |
22/24 |
1 |
9-5091675-G-A |
c.3059+764G>A |
- |
IntronicSNV |
- |
22/24 |
3 |
9-5094539-G-A |
c.3059+3628G>A |
- |
IntronicSNV |
- |
22/24 |
2 |
9-5097281-A-C |
c.3059+6370A>C |
- |
IntronicSNV |
- |
22/24 |
4 |
9-5097544-C-T |
c.3059+6633C>T |
- |
IntronicSNV |
- |
22/24 |
2 |
9-5098223-T-C |
c.3059+7312T>C |
- |
IntronicSNV |
- |
22/24 |
2 |
9-5098346-T-A |
c.3059+7435T>A |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5098411-G-A |
c.3059+7500G>A |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5098411-G-C |
c.3059+7500G>C |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5100291-C-G |
c.3059+9380C>G |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5100628-T-C |
c.3059+9717T>C |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5106023-A-G |
c.3059+15112A>G |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5106023-A-T |
c.3059+15112A>T |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5106610-C-T |
c.3059+15699C>T |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5107394-A-G |
c.3060-15610A>G |
- |
IntronicSNV |
- |
22/24 |
3 |
9-5107394-A-T |
c.3060-15610A>T |
- |
IntronicSNV |
- |
22/24 |
3 |
9-5108771-G-C |
c.3060-14233G>C |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5109431-G-A |
c.3060-13573G>A |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5109531-C-T |
c.3060-13473C>T |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5109707-A-G |
c.3060-13297A>G |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5112288-C-T |
c.3060-10716C>T |
- |
IntronicSNV |
- |
22/24 |
6 |
9-5112519-G-A |
c.3060-10485G>A |
- |
IntronicSNV |
- |
22/24 |
8 |
9-5112844-G-A |
c.3060-10160G>A |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5113452-C-A |
c.3060-9552C>A |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5113452-C-T |
c.3060-9552C>T |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5113577-C-T |
c.3060-9427C>T |
- |
IntronicSNV |
- |
22/24 |
2 |
9-5114523-A-C |
c.3060-8481A>C |
- |
IntronicSNV |
- |
22/24 |
3 |
9-5114722-A-G |
c.3060-8282A>G |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5116616-T-G |
c.3060-6388T>G |
- |
IntronicSNV |
- |
22/24 |
6 |
9-5120157-C-A |
c.3060-2847C>A |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5121070-A-T |
c.3060-1934A>T |
- |
IntronicSNV |
- |
22/24 |
3 |
9-5122291-G-C |
c.3060-713G>C |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5122932-A-G |
c.3060-72A>G |
- |
IntronicSNV |
- |
22/24 |
1 |
9-5123004-G-C |
c.3060G>C |
p.W1020C |
Missense |
23/25 |
- |
1 |
9-5123004-G-T |
c.3060G>T |
p.W1020C |
Missense |
23/25 |
- |
1 |
9-5123005-T-C |
c.3061T>C |
p.Y1021H |
Missense |
23/25 |
- |
1 |
9-5123006-A-G |
c.3062A>G |
p.Y1021C |
Missense |
23/25 |
- |
1 |
9-5123006-A-T |
c.3062A>T |
p.Y1021F |
Missense |
23/25 |
- |
2 |
9-5123009-C-G |
c.3065C>G |
p.A1022G |
Missense |
23/25 |
- |
1 |
9-5123014-G-A |
c.3070G>A |
p.E1024K |
Missense |
23/25 |
- |
2 |
9-5123014-GA-AG |
c.3070_3071delinsAG |
p.E1024R |
Missense |
23/25 |
- |
1 |
9-5123018-CA-GT |
c.3074_3075delinsGT |
p.S1025C |
Missense |
23/25 |
- |
1 |
9-5123020-C-A |
c.3076C>A |
p.L1026M |
Missense |
23/25 |
- |
1 |
9-5123020-CT-GG |
c.3076_3077delinsGG |
p.L1026G |
Missense |
23/25 |
- |
1 |
9-5123020-CTG-TTT |
c.3076_3078delinsTTT |
p.L1026F |
Missense |
23/25 |
- |
1 |
9-5123024-C-T |
c.3080C>T |
p.T1027I |
Missense |
23/25 |
- |
3 |
9-5123026-G-C |
c.3082G>C |
p.E1028Q |
Missense |
23/25 |
- |
1 |
9-5123027-A-C |
c.3083A>C |
p.E1028A |
Missense |
23/25 |
- |
1 |
9-5123027-A-T |
c.3083A>T |
p.E1028V |
Missense |
23/25 |
- |
1 |
9-5123032-AA-GC |
c.3088_3089delinsGC |
p.K1030A |
Missense |
23/25 |
- |
1 |
9-5123033-A-G |
c.3089A>G |
p.K1030R |
Missense |
23/25 |
- |
1 |
9-5123042-T-C |
c.3098T>C |
p.V1033A |
Missense |
23/25 |
- |
1 |
9-5123056-T-G |
c.3112T>G |
p.W1038G |
Missense |
23/25 |
- |
1 |
9-5123058-G-C |
c.3114G>C |
p.W1038C |
Missense |
23/25 |
- |
1 |
9-5123058-G-T |
c.3114G>T |
p.W1038C |
Missense |
23/25 |
- |
1 |
9-5123059-AG-TT |
c.3115_3116delinsTT |
p.S1039F |
Missense |
23/25 |
- |
1 |
9-5123064-T-A |
c.3120T>A |
p.F1040L |
Missense |
23/25 |
- |
1 |
9-5123065-G-A |
c.3121G>A |
p.G1041R |
Missense |
23/25 |
- |
1 |
9-5123065-G-C |
c.3121G>C |
p.G1041R |
Missense |
23/25 |
- |
1 |
9-5123066-GGAGTGGTTCTGTATGAACTTTTC-G |
c.3122_3144del |
p.G1041Dfs*4 |
Frameshift |
23/25 |
- |
1 |
9-5123068-GTG-TTT |
c.3124_3126delinsTTT |
p.V1042F |
Missense |
23/25 |
- |
1 |
9-5123078-A-T |
c.3134A>T |
p.Y1045F |
Missense |
23/25 |
- |
5 |
9-5123078-AT-GG |
c.3134_3135delinsGG |
p.Y1045W |
Missense |
23/25 |
- |
1 |
9-5123079-T-A |
c.3135T>A |
p.Y1045* |
Nonsense |
23/25 |
- |
1 |
9-5123079-T-G |
c.3135T>G |
p.Y1045* |
Nonsense |
23/25 |
- |
1 |
9-5123080-G-A |
c.3136G>A |
p.E1046K |
Missense |
23/25 |
- |
1 |
9-5123080-GA-AG |
c.3136_3137delinsAG |
p.E1046R |
Missense |
23/25 |
- |
1 |
9-5123093-A-T |
c.3149A>T |
p.Y1050F |
Missense |
23/25 |
- |
2 |
9-5123107-A-T |
c.3163A>T |
p.K1055* |
Nonsense |
23/25 |
- |
1 |
9-5123108-A-G |
c.3164A>G |
p.K1055R |
Missense |
23/25 |
- |
1 |
9-5123111-G-C |
c.3167G>C |
p.S1056T |
Missense |
23/25 |
- |
1 |
9-5123113-C-T |
c.3169C>T |
p.P1057S |
Missense |
23/25 |
- |
1 |
9-5123114-C-A |
c.3170C>A |
p.P1057Q |
Missense |
23/25 |
- |
1 |
9-5123114-C-T |
c.3170C>T |
p.P1057L |
Missense |
23/25 |
- |
1 |
9-5123116-C-A |
c.3172C>A |
p.P1058T |
Missense |
23/25 |
- |
1 |
9-5123116-CCA-TTT |
c.3172_3174delinsTTT |
p.P1058F |
Missense |
23/25 |
- |
1 |
9-5123120-C-G |
c.3176C>G |
p.A1059G |
Missense |
23/25 |
- |
1 |
9-5123120-C-T |
c.3176C>T |
p.A1059V |
Missense |
23/25 |
- |
1 |
9-5123121-G-A |
c.3177G>A |
p.A1059= |
Synonymous |
23/25 |
- |
2 |
9-5126337-TT-GG |
c.3182_3183delinsGG |
p.F1061W |
Missense |
24/25 |
- |
1 |
9-5126342-C-T |
c.3187C>T |
p.R1063C |
Missense |
24/25 |
- |
2 |
9-5126343-G-A |
c.3188G>A |
p.R1063H |
Missense |
24/25 |
- |
20 |
9-5126343-G-C |
c.3188G>C |
p.R1063P |
Missense |
24/25 |
- |
2 |
9-5126366-G-A |
c.3211G>A |
p.G1071R |
Missense |
24/25 |
- |
1 |
9-5126366-G-C |
c.3211G>C |
p.G1071R |
Missense |
24/25 |
- |
1 |
9-5126367-G-A |
c.3212G>A |
p.G1071E |
Missense |
24/25 |
- |
2 |
9-5126367-GA-AC |
c.3212_3213delinsAC |
p.G1071D |
Missense |
24/25 |
- |
1 |
9-5126367-G-T |
c.3212G>T |
p.G1071V |
Missense |
24/25 |
- |
1 |
9-5126375-A-T |
c.3220A>T |
p.I1074F |
Missense |
24/25 |
- |
1 |
9-5126378-GTG-TTT |
c.3223_3225delinsTTT |
p.V1075F |
Missense |
24/25 |
- |
1 |
9-5126381-T-C |
c.3226T>C |
p.F1076L |
Missense |
24/25 |
- |
1 |
9-5126388-T-C |
c.3233T>C |
p.L1078S |
Missense |
24/25 |
- |
1 |
9-5126390-A-C |
c.3235A>C |
p.I1079L |
Missense |
24/25 |
- |
1 |
9-5126390-A-T |
c.3235A>T |
p.I1079L |
Missense |
24/25 |
- |
1 |
9-5126392-A-C |
c.3237A>C |
p.I1079= |
Synonymous |
24/25 |
- |
1 |
9-5126393-G-A |
c.3238G>A |
p.E1080K |
Missense |
24/25 |
- |
2 |
9-5126399-TT-AG |
c.3244_3245delinsAG |
p.L1082R |
Missense |
24/25 |
- |
1 |
9-5126409-A-G |
c.3254A>G |
p.N1085S |
Missense |
24/25 |
- |
1 |
9-5126411-G-T |
c.3256G>T |
p.G1086* |
Nonsense |
24/25 |
- |
1 |
9-5126412-G-A |
c.3257G>A |
p.G1086E |
Missense |
24/25 |
- |
1 |
9-5126414-A-G |
c.3259A>G |
p.R1087G |
Missense |
24/25 |
- |
1 |
9-5126435-T-A |
c.3280T>A |
p.C1094S |
Missense |
24/25 |
- |
1 |
9-5126435-TG-GC |
c.3280_3281delinsGC |
p.C1094A |
Missense |
24/25 |
- |
1 |
9-5126436-G-C |
c.3281G>C |
p.C1094S |
Missense |
24/25 |
- |
1 |
9-5126443-T-A |
c.3288T>A |
p.D1096E |
Missense |
24/25 |
- |
2 |
9-5126444-G-T |
c.3289G>T |
p.E1097* |
Nonsense |
24/25 |
- |
1 |
9-5126452-A-C |
c.3291+6A>C |
- |
IntronicSNV |
- |
24/24 |
1 |
9-5126542-T-G |
c.3291+96T>G |
- |
IntronicSNV |
- |
24/24 |
1 |
9-5126688-A-G |
c.3296A>G |
p.Y1099C |
Missense |
25/25 |
- |
1 |
9-5126688-A-T |
c.3296A>T |
p.Y1099F |
Missense |
25/25 |
- |
3 |
9-5126698-G-T |
c.3306G>T |
p.M1102I |
Missense |
25/25 |
- |
1 |
9-5126705-T-A |
c.3313T>A |
p.C1105S |
Missense |
25/25 |
- |
1 |
9-5126705-TG-GC |
c.3313_3314delinsGC |
p.C1105A |
Missense |
25/25 |
- |
1 |
9-5126706-G-C |
c.3314G>C |
p.C1105S |
Missense |
25/25 |
- |
1 |
9-5126715-A-G |
c.3323A>G |
p.N1108S |
Missense |
25/25 |
- |
5 |
9-5126726-C-T |
c.3334C>T |
p.Q1112* |
Nonsense |
25/25 |
- |
1 |
9-5126729-C-T |
c.3337C>T |
p.R1113C |
Missense |
25/25 |
- |
1 |
9-5126730-G-A |
c.3338G>A |
p.R1113H |
Missense |
25/25 |
- |
3 |
9-5126736-C-G |
c.3344C>G |
p.S1115C |
Missense |
25/25 |
- |
1 |
9-5126741-A-G |
c.3349A>G |
p.R1117G |
Missense |
25/25 |
- |
1 |
9-5126744-G-C |
c.3352G>C |
p.D1118H |
Missense |
25/25 |
- |
3 |
9-5126757-G-C |
c.3365G>C |
p.R1122P |
Missense |
25/25 |
- |
2 |
9-5126772-G-A |
c.3380G>A |
p.R1127K |
Missense |
25/25 |
- |
1 |
9-5126778-A-G |
c.3386A>G |
p.N1129S |
Missense |
25/25 |
- |
2 |
9-5126781-T-C |
c.3389T>C |
p.M1130T |
Missense |
25/25 |
- |
1 |