19-38924362-T-A |
c.-108T>A |
- |
5-UTRSNV |
1/106 |
- |
2 |
19-38924362-T-C |
c.-108T>C |
- |
5-UTRSNV |
1/106 |
- |
2 |
19-38924368-C-T |
c.-102C>T |
- |
5-UTRSNV |
1/106 |
- |
2 |
19-38924471-T-C |
c.2T>C |
p.M1? |
Missense |
1/106 |
- |
1 |
19-38924473-G-A |
c.4G>A |
p.G2S |
Missense |
1/106 |
- |
2 |
19-38924474-G-GT |
c.6dup |
p.D3* |
Nonsense |
1/106 |
- |
1 |
19-38924475-T-A |
c.6T>A |
p.G2= |
Synonymous |
1/106 |
- |
2 |
19-38924475-T-C |
c.6T>C |
p.G2= |
Synonymous |
1/106 |
- |
2 |
19-38924475-T-G |
c.6T>G |
p.G2= |
Synonymous |
1/106 |
- |
2 |
19-38924476-G-C |
c.7G>C |
p.D3H |
Missense |
1/106 |
- |
1 |
19-38924483-A-T |
c.14A>T |
p.E5V |
Missense |
1/106 |
- |
5 |
19-38924484-A-G |
c.15A>G |
p.E5= |
Synonymous |
1/106 |
- |
1 |
19-38924485-GGC-TGA |
c.16_18delinsTGA |
p.G6* |
Nonsense |
1/106 |
- |
1 |
19-38924485-G-T |
c.16G>T |
p.G6C |
Missense |
1/106 |
- |
1 |
19-38924486-G-T |
c.17G>T |
p.G6V |
Missense |
1/106 |
- |
1 |
19-38924487-C-A |
c.18C>A |
p.G6= |
Synonymous |
1/106 |
- |
1 |
19-38924487-C-G |
c.18C>G |
p.G6= |
Synonymous |
1/106 |
- |
1 |
19-38924487-C-T |
c.18C>T |
p.G6= |
Synonymous |
1/106 |
- |
2 |
19-38924488-G-C |
c.19G>C |
p.E7Q |
Missense |
1/106 |
- |
1 |
19-38924488-G-T |
c.19G>T |
p.E7* |
Nonsense |
1/106 |
- |
1 |
19-38924492-A-T |
c.23A>T |
p.D8V |
Missense |
1/106 |
- |
1 |
19-38924493-C-A |
c.24C>A |
p.D8E |
Missense |
1/106 |
- |
1 |
19-38924493-C-T |
c.24C>T |
p.D8= |
Synonymous |
1/106 |
- |
3 |
19-38924494-G-A |
c.25G>A |
p.E9K |
Missense |
1/106 |
- |
1 |
19-38924494-G-T |
c.25G>T |
p.E9* |
Nonsense |
1/106 |
- |
1 |
19-38924496-G-A |
c.27G>A |
p.E9= |
Synonymous |
1/106 |
- |
1 |
19-38924497-G-A |
c.28G>A |
p.V10I |
Missense |
1/106 |
- |
2 |
19-38924497-G-C |
c.28G>C |
p.V10L |
Missense |
1/106 |
- |
1 |
19-38924499-C-A |
c.30C>A |
p.V10= |
Synonymous |
1/106 |
- |
1 |
19-38924499-C-G |
c.30C>G |
p.V10= |
Synonymous |
1/106 |
- |
1 |
19-38924499-C-T |
c.30C>T |
p.V10= |
Synonymous |
1/106 |
- |
5 |
19-38924500-C-A |
c.31C>A |
p.Q11K |
Missense |
1/106 |
- |
1 |
19-38924500-CCAG-C |
c.31_33del |
p.Q11del |
InFrameDeletion |
1/106 |
- |
1 |
19-38924500-C-T |
c.31C>T |
p.Q11* |
Nonsense |
1/106 |
- |
2 |
19-38924501-A-C |
c.32A>C |
p.Q11P |
Missense |
1/106 |
- |
1 |
19-38924501-A-T |
c.32A>T |
p.Q11L |
Missense |
1/106 |
- |
1 |
19-38924502-G-A |
c.33G>A |
p.Q11= |
Synonymous |
1/106 |
- |
1 |
19-38924503-T-C |
c.34T>C |
p.F12L |
Missense |
1/106 |
- |
1 |
19-38924505-C-A |
c.36C>A |
p.F12L |
Missense |
1/106 |
- |
1 |
19-38924505-C-G |
c.36C>G |
p.F12L |
Missense |
1/106 |
- |
1 |
19-38924502-GT-G |
c.35del |
p.F12Sfs*106 |
Frameshift |
1/106 |
- |
1 |
19-38924504-TC-AA |
c.35_36delinsAA |
p.F12* |
Nonsense |
1/106 |
- |
1 |
19-38924504-T-G |
c.35T>G |
p.F12C |
Missense |
1/106 |
- |
1 |
19-38924505-C-T |
c.36C>T |
p.F12= |
Synonymous |
1/106 |
- |
1 |
19-38924506-C-G |
c.37C>G |
p.L13V |
Missense |
1/106 |
- |
4 |
19-38924507-T-G |
c.38T>G |
p.L13R |
Missense |
1/106 |
- |
7 |
19-38924507-TGCG-T |
c.40_42del |
p.R14del |
InFrameDeletion |
1/106 |
- |
1 |
19-38924509-C-A |
c.40C>A |
p.R14= |
Synonymous |
1/106 |
- |
2 |
19-38924509-C-G |
c.40C>G |
p.R14G |
Missense |
1/106 |
- |
1 |
19-38924509-CG-AT |
c.40_41delinsAT |
p.R14M |
Missense |
1/106 |
- |
1 |
19-38924509-C-T |
c.40C>T |
p.R14W |
Missense |
1/106 |
- |
1 |
19-38924511-G-A |
c.42G>A |
p.R14= |
Synonymous |
1/106 |
- |
3 |
19-38924511-G-C |
c.42G>C |
p.R14= |
Synonymous |
1/106 |
- |
2 |
19-38924511-G-T |
c.42G>T |
p.R14= |
Synonymous |
1/106 |
- |
2 |
19-38924510-G-A |
c.41G>A |
p.R14Q |
Missense |
1/106 |
- |
3 |
19-38924510-G-C |
c.41G>C |
p.R14P |
Missense |
1/106 |
- |
1 |
19-38924512-A-C |
c.43A>C |
p.T15P |
Missense |
1/106 |
- |
1 |
19-38924512-A-G |
c.43A>G |
p.T15A |
Missense |
1/106 |
- |
3 |
19-38924513-C-T |
c.44C>T |
p.T15M |
Missense |
1/106 |
- |
2 |
19-38924635-A-G |
c.45+121A>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38924790-G-A |
c.45+276G>A |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38924814-T-C |
c.45+300T>C |
- |
IntronicSNV |
- |
1/105 |
4 |
19-38924996-T-C |
c.45+482T>C |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38925353-C-T |
c.45+839C>T |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38925715-G-A |
c.45+1201G>A |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38925900-G-A |
c.45+1386G>A |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38925987-G-A |
c.45+1473G>A |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38927023-AT-A |
c.45+2515del |
- |
IntronicDeletion |
- |
1/105 |
1 |
19-38927316-A-G |
c.45+2802A>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38927511-T-A |
c.45+2997T>A |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38927698-CT-C |
c.45+3194del |
- |
IntronicDeletion |
- |
1/105 |
1 |
19-38927961-G-A |
c.46-3424G>A |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929042-T-G |
c.46-2343T>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929505-A-G |
c.46-1880A>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929544-C-T |
c.46-1841C>T |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929547-C-G |
c.46-1838C>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929547-C-T |
c.46-1838C>T |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929834-T-G |
c.46-1551T>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929852-A-G |
c.46-1533A>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38929916-A-G |
c.46-1469A>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38930298-C-T |
c.46-1087C>T |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38930495-A-G |
c.46-890A>G |
- |
IntronicSNV |
- |
1/105 |
1 |
19-38931385-G-A |
c.46G>A |
p.D16N |
Missense |
2/106 |
- |
2 |
19-38931386-A-G |
c.47A>G |
p.D16G |
Missense |
2/106 |
- |
1 |
19-38931388-G-A |
c.49G>A |
p.D17N |
Missense |
2/106 |
- |
2 |
19-38931389-GA-G |
c.50del |
p.D17Vfs*101 |
Frameshift |
2/106 |
- |
1 |
19-38931390-T-C |
c.51T>C |
p.D17= |
Synonymous |
2/106 |
- |
1 |
19-38931390-T-G |
c.51T>G |
p.D17E |
Missense |
2/106 |
- |
1 |
19-38931391-G-A |
c.52G>A |
p.E18K |
Missense |
2/106 |
- |
3 |
19-38931391-G-C |
c.52G>C |
p.E18Q |
Missense |
2/106 |
- |
3 |
19-38931396-G-T |
c.57G>T |
p.V19= |
Synonymous |
2/106 |
- |
1 |
19-38931397-G-T |
c.58G>T |
p.V20F |
Missense |
2/106 |
- |
1 |
19-38931399-C-A |
c.60C>A |
p.V20= |
Synonymous |
2/106 |
- |
1 |
19-38931399-C-G |
c.60C>G |
p.V20= |
Synonymous |
2/106 |
- |
1 |
19-38931399-C-T |
c.60C>T |
p.V20= |
Synonymous |
2/106 |
- |
1 |
19-38931400-C-T |
c.61C>T |
p.L21= |
Synonymous |
2/106 |
- |
2 |
19-38931400-CTG-TTT |
c.61_63delinsTTT |
p.L21F |
Missense |
2/106 |
- |
1 |
19-38931400-CT-TC |
c.61_62delinsTC |
p.L21S |
Missense |
2/106 |
- |
1 |
19-38931401-T-C |
c.62T>C |
p.L21P |
Missense |
2/106 |
- |
1 |
19-38931402-G-A |
c.63G>A |
p.L21= |
Synonymous |
2/106 |
- |
1 |
19-38931402-G-C |
c.63G>C |
p.L21= |
Synonymous |
2/106 |
- |
1 |
19-38931402-G-T |
c.63G>T |
p.L21= |
Synonymous |
2/106 |
- |
1 |
19-38931403-C-A |
c.64C>A |
p.Q22K |
Missense |
2/106 |
- |
1 |
19-38931403-C-T |
c.64C>T |
p.Q22* |
Nonsense |
2/106 |
- |
1 |
19-38931404-A-T |
c.65A>T |
p.Q22L |
Missense |
2/106 |
- |
1 |
19-38931405-G-C |
c.66G>C |
p.Q22H |
Missense |
2/106 |
- |
1 |
19-38931406-TG-AC |
c.67_68delinsAC |
p.C23T |
Missense |
2/106 |
- |
1 |
19-38931408-C-A |
c.69C>A |
p.C23* |
Nonsense |
2/106 |
- |
1 |
19-38931408-C-T |
c.69C>T |
p.C23= |
Synonymous |
2/106 |
- |
1 |
19-38931410-G-A |
c.71G>A |
p.S24N |
Missense |
2/106 |
- |
1 |
19-38931411-C-T |
c.72C>T |
p.S24= |
Synonymous |
2/106 |
- |
1 |
19-38931412-G-A |
c.73G>A |
p.A25T |
Missense |
2/106 |
- |
1 |
19-38931412-GC-TT |
c.73_74delinsTT |
p.A25F |
Missense |
2/106 |
- |
1 |
19-38931413-C-A |
c.74C>A |
p.A25D |
Missense |
2/106 |
- |
4 |
19-38931413-C-G |
c.74C>G |
p.A25G |
Missense |
2/106 |
- |
1 |
19-38931413-C-T |
c.74C>T |
p.A25V |
Missense |
2/106 |
- |
2 |
19-38931416-C-A |
c.77C>A |
p.T26N |
Missense |
2/106 |
- |
1 |
19-38931416-C-G |
c.77C>G |
p.T26S |
Missense |
2/106 |
- |
1 |
19-38931416-C-T |
c.77C>T |
p.T26I |
Missense |
2/106 |
- |
2 |
19-38931418-G-A |
c.79G>A |
p.V27M |
Missense |
2/106 |
- |
2 |
19-38931420-G-A |
c.81G>A |
p.V27= |
Synonymous |
2/106 |
- |
2 |
19-38931420-G-C |
c.81G>C |
p.V27= |
Synonymous |
2/106 |
- |
1 |
19-38931420-G-T |
c.81G>T |
p.V27= |
Synonymous |
2/106 |
- |
1 |
19-38931421-C-A |
c.82C>A |
p.L28I |
Missense |
2/106 |
- |
1 |
19-38931421-C-G |
c.82C>G |
p.L28V |
Missense |
2/106 |
- |
1 |
19-38931423-C-A |
c.84C>A |
p.L28= |
Synonymous |
2/106 |
- |
1 |
19-38931423-C-G |
c.84C>G |
p.L28= |
Synonymous |
2/106 |
- |
1 |
19-38931423-C-T |
c.84C>T |
p.L28= |
Synonymous |
2/106 |
- |
1 |
19-38931424-A-G |
c.85A>G |
p.K29E |
Missense |
2/106 |
- |
2 |
19-38931425-A-G |
c.86A>G |
p.K29R |
Missense |
2/106 |
- |
1 |
19-38931426-G-A |
c.87G>A |
p.K29= |
Synonymous |
2/106 |
- |
1 |
19-38931427-G-A |
c.88G>A |
p.E30K |
Missense |
2/106 |
- |
3 |
19-38931427-G-T |
c.88G>T |
p.E30* |
Nonsense |
2/106 |
- |
1 |
19-38931428-A-G |
c.89A>G |
p.E30G |
Missense |
2/106 |
- |
3 |
19-38931428-A-T |
c.89A>T |
p.E30V |
Missense |
2/106 |
- |
6 |
19-38931432-AG-A |
c.93del |
p.Q31Hfs*87 |
Frameshift |
2/106 |
- |
1 |
19-38931433-C-T |
c.94C>T |
p.L32F |
Missense |
2/106 |
- |
3 |
19-38931435-C-G |
c.96C>G |
p.L32= |
Synonymous |
2/106 |
- |
1 |
19-38931436-A-G |
c.97A>G |
p.K33E |
Missense |
2/106 |
- |
1 |
19-38931442-T-C |
c.103T>C |
p.C35R |
Missense |
2/106 |
- |
21 |
19-38931444-C-G |
c.105C>G |
p.C35W |
Missense |
2/106 |
- |
1 |
19-38931445-C-A |
c.106C>A |
p.L36M |
Missense |
2/106 |
- |
1 |
19-38931445-C-G |
c.106C>G |
p.L36V |
Missense |
2/106 |
- |
1 |
19-38931445-CT-GC |
c.106_107delinsGC |
p.L36A |
Missense |
2/106 |
- |
1 |
19-38931445-CT-TC |
c.106_107delinsTC |
p.L36S |
Missense |
2/106 |
- |
1 |
19-38931449-C-A |
c.110C>A |
p.A37D |
Missense |
2/106 |
- |
3 |
19-38931449-C-T |
c.110C>T |
p.A37V |
Missense |
2/106 |
- |
2 |
19-38931450-C-T |
c.111C>T |
p.A37= |
Synonymous |
2/106 |
- |
1 |
19-38931451-G-A |
c.112G>A |
p.A38T |
Missense |
2/106 |
- |
4 |
19-38931451-GC-TG |
c.112_113delinsTG |
p.A38C |
Missense |
2/106 |
- |
1 |
19-38931451-G-T |
c.112G>T |
p.A38S |
Missense |
2/106 |
- |
1 |
19-38931452-C-A |
c.113C>A |
p.A38D |
Missense |
2/106 |
- |
2 |
19-38931452-CC-AG |
c.113_114delinsAG |
p.A38E |
Missense |
2/106 |
- |
1 |
19-38931452-C-G |
c.113C>G |
p.A38G |
Missense |
2/106 |
- |
1 |
19-38931454-G-A |
c.115G>A |
p.E39K |
Missense |
2/106 |
- |
8 |
19-38931457-GGC-TGA |
c.118_120delinsTGA |
p.G40* |
Nonsense |
2/106 |
- |
2 |
19-38931457-G-T |
c.118G>T |
p.G40C |
Missense |
2/106 |
- |
1 |
19-38931458-G-A |
c.119G>A |
p.G40D |
Missense |
2/106 |
- |
1 |
19-38931458-G-C |
c.119G>C |
p.G40A |
Missense |
2/106 |
- |
1 |
19-38931458-G-T |
c.119G>T |
p.G40V |
Missense |
2/106 |
- |
2 |
19-38931459-C-T |
c.120C>T |
p.G40= |
Synonymous |
2/106 |
- |
1 |
19-38931461-T-C |
c.122T>C |
p.F41S |
Missense |
2/106 |
- |
2 |
19-38931462-C-T |
c.123C>T |
p.F41= |
Synonymous |
2/106 |
- |
1 |
19-38931463-G-A |
c.124G>A |
p.G42S |
Missense |
2/106 |
- |
7 |
19-38931463-G-C |
c.124G>C |
p.G42R |
Missense |
2/106 |
- |
1 |
19-38931467-A-G |
c.128A>G |
p.N43S |
Missense |
2/106 |
- |
1 |
19-38931468-C-T |
c.129C>T |
p.N43= |
Synonymous |
2/106 |
- |
1 |
19-38931469-C-T |
c.130C>T |
p.R44C |
Missense |
2/106 |
- |
14 |
19-38931470-G-A |
c.131G>A |
p.R44H |
Missense |
2/106 |
- |
5 |
19-38931470-G-C |
c.131G>C |
p.R44P |
Missense |
2/106 |
- |
2 |
19-38931472-C-G |
c.133C>G |
p.L45V |
Missense |
2/106 |
- |
1 |
19-38931472-CTG-ATC |
c.133_135delinsATC |
p.L45I |
Missense |
2/106 |
- |
1 |
19-38931473-T-A |
c.134T>A |
p.L45Q |
Missense |
2/106 |
- |
1 |
19-38931473-T-C |
c.134T>C |
p.L45P |
Missense |
2/106 |
- |
1 |
19-38931475-T-G |
c.136T>G |
p.C46G |
Missense |
2/106 |
- |
1 |
19-38931476-G-A |
c.137G>A |
p.C46Y |
Missense |
2/106 |
- |
1 |
19-38931476-G-T |
c.137G>T |
p.C46F |
Missense |
2/106 |
- |
1 |
19-38931477-C-A |
c.138C>A |
p.C46* |
Nonsense |
2/106 |
- |
1 |
19-38931480-C-T |
c.141C>T |
p.F47= |
Synonymous |
2/106 |
- |
2 |
19-38931481-CTG-ATC |
c.142_144delinsATC |
p.L48I |
Missense |
2/106 |
- |
1 |
19-38931482-T-G |
c.143T>G |
p.L48R |
Missense |
2/106 |
- |
1 |
19-38931483-G-T |
c.144G>T |
p.L48= |
Synonymous |
2/106 |
- |
1 |
19-38931484-G-T |
c.145G>T |
p.E49* |
Nonsense |
2/106 |
- |
1 |
19-38931485-A-G |
c.146A>G |
p.E49G |
Missense |
2/106 |
- |
1 |
19-38931486-G-A |
c.147G>A |
p.E49= |
Synonymous |
2/106 |
- |
1 |
19-38931487-C-A |
c.148C>A |
p.P50T |
Missense |
2/106 |
- |
1 |
19-38931487-CC-AA |
c.148_149delinsAA |
p.P50N |
Missense |
2/106 |
- |
1 |
19-38931487-CCC-TAA |
c.148_150delinsTAA |
p.P50* |
Nonsense |
2/106 |
- |
1 |
19-38931487-C-T |
c.148C>T |
p.P50S |
Missense |
2/106 |
- |
4 |
19-38931488-C-T |
c.149C>T |
p.P50L |
Missense |
2/106 |
- |
2 |
19-38931490-A-C |
c.151A>C |
p.T51P |
Missense |
2/106 |
- |
1 |
19-38931490-ACT-TAA |
c.151_153delinsTAA |
p.T51* |
Nonsense |
2/106 |
- |
1 |
19-38931491-C-A |
c.152C>A |
p.T51N |
Missense |
2/106 |
- |
6 |
19-38931491-C-T |
c.152C>T |
p.T51I |
Missense |
2/106 |
- |
2 |
19-38931492-T-A |
c.153T>A |
p.T51= |
Synonymous |
2/106 |
- |
1 |
19-38931492-T-C |
c.153T>C |
p.T51= |
Synonymous |
2/106 |
- |
2 |
19-38931492-T-G |
c.153T>G |
p.T51= |
Synonymous |
2/106 |
- |
1 |
19-38931493-AG-GC |
c.154_155delinsGC |
p.S52A |
Missense |
2/106 |
- |
1 |
19-38931494-G-A |
c.155G>A |
p.S52N |
Missense |
2/106 |
- |
2 |
19-38931494-G-T |
c.155G>T |
p.S52I |
Missense |
2/106 |
- |
1 |
19-38931496-A-C |
c.157A>C |
p.N53H |
Missense |
2/106 |
- |
1 |
19-38931496-A-G |
c.157A>G |
p.N53D |
Missense |
2/106 |
- |
1 |
19-38931495-CA-C |
c.158del |
p.N53Tfs*65 |
Frameshift |
2/106 |
- |
1 |
19-38931497-A-G |
c.158A>G |
p.N53S |
Missense |
2/106 |
- |
2 |
19-38931497-A-T |
c.158A>T |
p.N53I |
Missense |
2/106 |
- |
4 |
19-38931498-C-T |
c.159C>T |
p.N53= |
Synonymous |
2/106 |
- |
2 |
19-38931499-G-A |
c.160G>A |
p.A54T |
Missense |
2/106 |
- |
2 |
19-38931499-G-T |
c.160G>T |
p.A54S |
Missense |
2/106 |
- |
1 |
19-38931500-CG-AC |
c.161_162delinsAC |
p.A54D |
Missense |
2/106 |
- |
2 |
19-38931500-C-T |
c.161C>T |
p.A54V |
Missense |
2/106 |
- |
3 |
19-38931501-G-A |
c.162G>A |
p.A54= |
Synonymous |
2/106 |
- |
2 |
19-38931501-G-C |
c.162G>C |
p.A54= |
Synonymous |
2/106 |
- |
2 |
19-38931501-G-T |
c.162G>T |
p.A54= |
Synonymous |
2/106 |
- |
2 |
19-38931502-C-T |
c.163C>T |
p.Q55* |
Nonsense |
2/106 |
- |
3 |
19-38931503-A-G |
c.164A>G |
p.Q55R |
Missense |
2/106 |
- |
1 |
19-38931504-G-C |
c.165G>C |
p.Q55H |
Missense |
2/106 |
- |
1 |
19-38931504-G-T |
c.165G>T |
p.Q55H |
Missense |
2/106 |
- |
3 |
19-38931505-G-A |
c.165+1G>A |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38931509-G-A |
c.165+5G>A |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38931532-G-T |
c.165+28G>T |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38931578-G-C |
c.165+74G>C |
- |
IntronicSNV |
- |
2/105 |
2 |
19-38931673-G-A |
c.165+169G>A |
- |
IntronicSNV |
- |
2/105 |
3 |
19-38931910-G-A |
c.165+406G>A |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38931910-G-T |
c.165+406G>T |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38931982-G-A |
c.165+478G>A |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38931982-G-C |
c.165+478G>C |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38931982-G-T |
c.165+478G>T |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932157-C-G |
c.165+653C>G |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932157-C-T |
c.165+653C>T |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932213-C-G |
c.165+709C>G |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932213-C-T |
c.165+709C>T |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932263-G-A |
c.166-726G>A |
- |
IntronicSNV |
- |
2/105 |
2 |
19-38932263-G-T |
c.166-726G>T |
- |
IntronicSNV |
- |
2/105 |
2 |
19-38932307-G-A |
c.166-682G>A |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932379-G-C |
c.166-610G>C |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932379-G-T |
c.166-610G>T |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932386-A-C |
c.166-603A>C |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932386-A-G |
c.166-603A>G |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932386-A-T |
c.166-603A>T |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932826-G-C |
c.166-163G>C |
- |
IntronicSNV |
- |
2/105 |
2 |
19-38932945-G-A |
c.166-44G>A |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932945-G-C |
c.166-44G>C |
- |
IntronicSNV |
- |
2/105 |
1 |
19-38932989-A-G |
c.166A>G |
p.N56D |
Missense |
3/106 |
- |
1 |
19-38932991-T-A |
c.168T>A |
p.N56K |
Missense |
3/106 |
- |
1 |
19-38932991-T-C |
c.168T>C |
p.N56= |
Synonymous |
3/106 |
- |
1 |
19-38932991-T-G |
c.168T>G |
p.N56K |
Missense |
3/106 |
- |
1 |
19-38932992-G-T |
c.169G>T |
p.V57L |
Missense |
3/106 |
- |
1 |
19-38932992-G-GT |
c.170dup |
p.P58Afs*26 |
Frameshift |
3/106 |
- |
1 |
19-38932994-G-T |
c.171G>T |
p.V57= |
Synonymous |
3/106 |
- |
1 |
19-38932996-C-T |
c.173C>T |
p.P58L |
Missense |
3/106 |
- |
2 |
19-38932997-C-A |
c.174C>A |
p.P58= |
Synonymous |
3/106 |
- |
1 |
19-38932998-C-A |
c.175C>A |
p.P59T |
Missense |
3/106 |
- |
2 |
19-38932998-CCC-TAA |
c.175_177delinsTAA |
p.P59* |
Nonsense |
3/106 |
- |
1 |
19-38932998-C-T |
c.175C>T |
p.P59S |
Missense |
3/106 |
- |
1 |
19-38932999-C-A |
c.176C>A |
p.P59H |
Missense |
3/106 |
- |
1 |
19-38932999-C-T |
c.176C>T |
p.P59L |
Missense |
3/106 |
- |
1 |
19-38932994-GC-G |
c.177del |
p.D60Ifs*58 |
Frameshift |
3/106 |
- |
1 |
19-38933000-C-T |
c.177C>T |
p.P59= |
Synonymous |
3/106 |
- |
2 |
19-38933001-CGAT-C |
c.178_180del |
p.D60del |
InFrameDeletion |
3/106 |
- |
1 |
19-38933001-G-A |
c.178G>A |
p.D60N |
Missense |
3/106 |
- |
13 |
19-38933001-G-C |
c.178G>C |
p.D60H |
Missense |
3/106 |
- |
3 |
19-38933001-G-T |
c.178G>T |
p.D60Y |
Missense |
3/106 |
- |
1 |
19-38933002-A-C |
c.179A>C |
p.D60A |
Missense |
3/106 |
- |
1 |
19-38933002-A-G |
c.179A>G |
p.D60G |
Missense |
3/106 |
- |
2 |
19-38933003-T-C |
c.180T>C |
p.D60= |
Synonymous |
3/106 |
- |
1 |
19-38933004-C-A |
c.181C>A |
p.L61M |
Missense |
3/106 |
- |
1 |
19-38933004-C-G |
c.181C>G |
p.L61V |
Missense |
3/106 |
- |
1 |
19-38933006-G-A |
c.183G>A |
p.L61= |
Synonymous |
3/106 |
- |
1 |
19-38933006-G-C |
c.183G>C |
p.L61= |
Synonymous |
3/106 |
- |
1 |
19-38933007-G-A |
c.184G>A |
p.A62T |
Missense |
3/106 |
- |
2 |
19-38933007-GCC-TAA |
c.184_186delinsTAA |
p.A62* |
Nonsense |
3/106 |
- |
1 |
19-38933007-GC-TA |
c.184_185delinsTA |
p.A62Y |
Missense |
3/106 |
- |
1 |
19-38933008-C-T |
c.185C>T |
p.A62V |
Missense |
3/106 |
- |
1 |
19-38933009-C-A |
c.186C>A |
p.A62= |
Synonymous |
3/106 |
- |
2 |
19-38933009-C-G |
c.186C>G |
p.A62= |
Synonymous |
3/106 |
- |
2 |
19-38933009-C-T |
c.186C>T |
p.A62= |
Synonymous |
3/106 |
- |
3 |
19-38933010-ATC-TAA |
c.187_189delinsTAA |
p.I63* |
Nonsense |
3/106 |
- |
2 |
19-38933011-T-A |
c.188T>A |
p.I63N |
Missense |
3/106 |
- |
1 |
19-38933011-T-C |
c.188T>C |
p.I63T |
Missense |
3/106 |
- |
1 |
19-38933012-C-G |
c.189C>G |
p.I63M |
Missense |
3/106 |
- |
1 |
19-38933012-C-T |
c.189C>T |
p.I63= |
Synonymous |
3/106 |
- |
4 |
19-38933013-T-G |
c.190T>G |
p.C64G |
Missense |
3/106 |
- |
1 |
19-38933014-G-A |
c.191G>A |
p.C64Y |
Missense |
3/106 |
- |
1 |
19-38933015-T-A |
c.192T>A |
p.C64* |
Nonsense |
3/106 |
- |
2 |
19-38933017-G-T |
c.194G>T |
p.C65F |
Missense |
3/106 |
- |
1 |
19-38933018-C-A |
c.195C>A |
p.C65* |
Nonsense |
3/106 |
- |
1 |
19-38933018-C-T |
c.195C>T |
p.C65= |
Synonymous |
3/106 |
- |
3 |
19-38933018-CT-C |
c.197del |
p.F66Sfs*52 |
Frameshift |
3/106 |
- |
1 |
19-38933020-T-A |
c.197T>A |
p.F66Y |
Missense |
3/106 |
- |
2 |
19-38933021-C-T |
c.198C>T |
p.F66= |
Synonymous |
3/106 |
- |
4 |
19-38933022-G-A |
c.199G>A |
p.V67I |
Missense |
3/106 |
- |
1 |
19-38933025-C-A |
c.202C>A |
p.L68M |
Missense |
3/106 |
- |
1 |
19-38933025-C-G |
c.202C>G |
p.L68V |
Missense |
3/106 |
- |
1 |
19-38933026-TG-T |
c.205del |
p.E69Sfs*49 |
Frameshift |
3/106 |
- |
1 |
19-38933028-G-C |
c.205G>C |
p.E69Q |
Missense |
3/106 |
- |
1 |
19-38933029-A-G |
c.206A>G |
p.E69G |
Missense |
3/106 |
- |
1 |
19-38933031-C-T |
c.208C>T |
p.Q70* |
Nonsense |
3/106 |
- |
3 |
19-38933032-A-G |
c.209A>G |
p.Q70R |
Missense |
3/106 |
- |
1 |
19-38933032-A-T |
c.209A>T |
p.Q70L |
Missense |
3/106 |
- |
1 |
19-38933033-G-A |
c.210G>A |
p.Q70= |
Synonymous |
3/106 |
- |
1 |
19-38933035-C-A |
c.212C>A |
p.S71Y |
Missense |
3/106 |
- |
5 |
19-38933035-C-T |
c.212C>T |
p.S71F |
Missense |
3/106 |
- |
1 |
19-38933036-C-A |
c.213C>A |
p.S71= |
Synonymous |
3/106 |
- |
2 |
19-38933036-C-G |
c.213C>G |
p.S71= |
Synonymous |
3/106 |
- |
2 |
19-38933036-C-T |
c.213C>T |
p.S71= |
Synonymous |
3/106 |
- |
2 |
19-38933042-T-A |
c.219T>A |
p.S73= |
Synonymous |
3/106 |
- |
1 |
19-38933042-T-C |
c.219T>C |
p.S73= |
Synonymous |
3/106 |
- |
1 |
19-38933042-T-G |
c.219T>G |
p.S73= |
Synonymous |
3/106 |
- |
1 |
19-38933043-G-T |
c.220G>T |
p.V74L |
Missense |
3/106 |
- |
1 |
19-38933044-T-C |
c.221T>C |
p.V74A |
Missense |
3/106 |
- |
1 |
19-38933045-G-C |
c.222G>C |
p.V74= |
Synonymous |
3/106 |
- |
1 |
19-38933046-C-T |
c.223C>T |
p.R75* |
Nonsense |
3/106 |
- |
3 |
19-38933047-G-A |
c.224G>A |
p.R75Q |
Missense |
3/106 |
- |
9 |
19-38933047-GA-AT |
c.224_225delinsAT |
p.R75H |
Missense |
3/106 |
- |
1 |
19-38933048-A-T |
c.225A>T |
p.R75= |
Synonymous |
3/106 |
- |
1 |
19-38933049-G-A |
c.226G>A |
p.A76T |
Missense |
3/106 |
- |
1 |
19-38933050-C-T |
c.227C>T |
p.A76V |
Missense |
3/106 |
- |
1 |
19-38933051-C-A |
c.228C>A |
p.A76= |
Synonymous |
3/106 |
- |
1 |
19-38933051-C-G |
c.228C>G |
p.A76= |
Synonymous |
3/106 |
- |
2 |
19-38933051-C-T |
c.228C>T |
p.A76= |
Synonymous |
3/106 |
- |
1 |
19-38933057-G-GCAA |
c.234_235insCAA |
p.Q78dup |
InFrameInsertion |
3/106 |
- |
1 |
19-38933057-G-GT |
c.234_235insT |
p.E79* |
Nonsense |
3/106 |
- |
1 |
19-38933060-G-C |
c.237G>C |
p.E79D |
Missense |
3/106 |
- |
1 |
19-38933060-G-T |
c.237G>T |
p.E79D |
Missense |
3/106 |
- |
2 |
19-38933062-T-A |
c.239T>A |
p.M80K |
Missense |
3/106 |
- |
6 |
19-38933062-T-C |
c.239T>C |
p.M80T |
Missense |
3/106 |
- |
1 |
19-38933063-G-A |
c.240G>A |
p.M80I |
Missense |
3/106 |
- |
2 |
19-38933063-G-C |
c.240G>C |
p.M80I |
Missense |
3/106 |
- |
2 |
19-38933063-G-T |
c.240G>T |
p.M80I |
Missense |
3/106 |
- |
2 |
19-38933064-C-T |
c.241C>T |
p.L81= |
Synonymous |
3/106 |
- |
1 |
19-38933064-CT-TG |
c.241_242delinsTG |
p.L81W |
Missense |
3/106 |
- |
1 |
19-38933066-G-A |
c.243G>A |
p.L81= |
Synonymous |
3/106 |
- |
1 |
19-38933067-G-A |
c.244G>A |
p.A82T |
Missense |
3/106 |
- |
1 |
19-38933067-GC-TG |
c.244_245delinsTG |
p.A82C |
Missense |
3/106 |
- |
2 |
19-38933072-C-CA |
c.250dup |
p.T84Nfs*45 |
Frameshift |
3/106 |
- |
1 |
19-38933074-C-G |
c.251C>G |
p.T84R |
Missense |
3/106 |
- |
1 |
19-38933074-C-T |
c.251C>T |
p.T84M |
Missense |
3/106 |
- |
8 |
19-38933075-G-A |
c.252G>A |
p.T84= |
Synonymous |
3/106 |
- |
1 |
19-38933075-G-C |
c.252G>C |
p.T84= |
Synonymous |
3/106 |
- |
1 |
19-38933075-G-T |
c.252G>T |
p.T84= |
Synonymous |
3/106 |
- |
1 |
19-38933076-G-A |
c.253G>A |
p.V85M |
Missense |
3/106 |
- |
1 |
19-38933076-GTG-ATC |
c.253_255delinsATC |
p.V85I |
Missense |
3/106 |
- |
1 |
19-38933077-T-G |
c.254T>G |
p.V85G |
Missense |
3/106 |
- |
1 |
19-38933079-G-A |
c.256G>A |
p.E86K |
Missense |
3/106 |
- |
2 |
19-38933082-GC-CA |
c.259_260delinsCA |
p.A87H |
Missense |
3/106 |
- |
1 |
19-38933082-GCT-AAG |
c.259_261delinsAAG |
p.A87K |
Missense |
3/106 |
- |
1 |
19-38933082-GC-TG |
c.259_260delinsTG |
p.A87C |
Missense |
3/106 |
- |
1 |
19-38933083-C-A |
c.260C>A |
p.A87D |
Missense |
3/106 |
- |
1 |
19-38933083-CT-AG |
c.260_261inv |
p.A87E |
Missense |
3/106 |
- |
1 |
19-38933085-G-T |
c.262G>T |
p.G88C |
Missense |
3/106 |
- |
1 |
19-38933086-GC-AG |
c.263_264delinsAG |
p.G88E |
Missense |
3/106 |
- |
2 |
19-38933086-G-T |
c.263G>T |
p.G88V |
Missense |
3/106 |
- |
2 |
19-38933087-C-A |
c.264C>A |
p.G88= |
Synonymous |
3/106 |
- |
1 |
19-38933087-C-G |
c.264C>G |
p.G88= |
Synonymous |
3/106 |
- |
1 |
19-38933087-C-T |
c.264C>T |
p.G88= |
Synonymous |
3/106 |
- |
1 |
19-38933088-G-A |
c.265G>A |
p.V89M |
Missense |
3/106 |
- |
3 |
19-38933089-T-G |
c.266T>G |
p.V89G |
Missense |
3/106 |
- |
1 |
19-38933090-G-A |
c.267G>A |
p.V89= |
Synonymous |
3/106 |
- |
1 |
19-38933091-G-A |
c.268G>A |
p.E90K |
Missense |
3/106 |
- |
1 |
19-38933091-G-T |
c.268G>T |
p.E90* |
Nonsense |
3/106 |
- |
1 |
19-38933093-G-C |
c.270G>C |
p.E90D |
Missense |
3/106 |
- |
1 |
19-38933093-G-T |
c.270G>T |
p.E90D |
Missense |
3/106 |
- |
2 |
19-38933095-T-C |
c.270+2T>C |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933120-G-A |
c.270+27G>A |
- |
IntronicSNV |
- |
3/105 |
11 |
19-38933191-G-A |
c.270+98G>A |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933331-G-T |
c.270+238G>T |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933415-A-C |
c.270+322A>C |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933454-C-T |
c.270+361C>T |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933585-G-A |
c.270+492G>A |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933585-G-C |
c.270+492G>C |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933611-A-G |
c.270+518A>G |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933688-T-C |
c.271-510T>C |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933816-G-T |
c.271-382G>T |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933855-G-A |
c.271-343G>A |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933885-G-A |
c.271-313G>A |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38933905-A-G |
c.271-293A>G |
- |
IntronicSNV |
- |
3/105 |
1 |
19-38934050-A-G |
c.271-148A>G |
- |
IntronicSNV |
- |
3/105 |
2 |
19-38934199-CA-AT |
c.272_273delinsAT |
p.S91Y |
Missense |
4/106 |
- |
1 |
19-38934199-CA-TT |
c.272_273delinsTT |
p.S91F |
Missense |
4/106 |
- |
1 |
19-38934199-C-T |
c.272C>T |
p.S91L |
Missense |
4/106 |
- |
1 |
19-38934201-T-C |
c.274T>C |
p.S92P |
Missense |
4/106 |
- |
1 |
19-38934202-C-G |
c.275C>G |
p.S92C |
Missense |
4/106 |
- |
1 |
19-38934202-C-T |
c.275C>T |
p.S92F |
Missense |
4/106 |
- |
1 |
19-38934203-C-T |
c.276C>T |
p.S92= |
Synonymous |
4/106 |
- |
1 |
19-38934204-C-T |
c.277C>T |
p.Q93* |
Nonsense |
4/106 |
- |
1 |
19-38934205-A-G |
c.278A>G |
p.Q93R |
Missense |
4/106 |
- |
2 |
19-38934207-G-A |
c.280G>A |
p.G94S |
Missense |
4/106 |
- |
1 |
19-38934207-G-T |
c.280G>T |
p.G94C |
Missense |
4/106 |
- |
1 |
19-38934205-AG-A |
c.281del |
p.G94Afs*24 |
Frameshift |
4/106 |
- |
1 |
19-38934209-C-A |
c.282C>A |
p.G94= |
Synonymous |
4/106 |
- |
2 |
19-38934209-C-G |
c.282C>G |
p.G94= |
Synonymous |
4/106 |
- |
2 |
19-38934209-C-T |
c.282C>T |
p.G94= |
Synonymous |
4/106 |
- |
4 |
19-38934210-G-A |
c.283G>A |
p.G95R |
Missense |
4/106 |
- |
3 |
19-38934210-G-C |
c.283G>C |
p.G95R |
Missense |
4/106 |
- |
1 |
19-38934210-GGG-AGC |
c.283_285delinsAGC |
p.G95S |
Missense |
4/106 |
- |
1 |
19-38934210-G-T |
c.283G>T |
p.G95W |
Missense |
4/106 |
- |
1 |
19-38934213-G-A |
c.286G>A |
p.G96R |
Missense |
4/106 |
- |
3 |
19-38934213-G-C |
c.286G>C |
p.G96R |
Missense |
4/106 |
- |
2 |
19-38934214-G-A |
c.287G>A |
p.G96E |
Missense |
4/106 |
- |
1 |
19-38934220-G-A |
c.293G>A |
p.R98K |
Missense |
4/106 |
- |
1 |
19-38934220-G-T |
c.293G>T |
p.R98M |
Missense |
4/106 |
- |
2 |
19-38934221-G-A |
c.294G>A |
p.R98= |
Synonymous |
4/106 |
- |
2 |
19-38934221-G-T |
c.294G>T |
p.R98S |
Missense |
4/106 |
- |
1 |
19-38934223-CG-TC |
c.296_297delinsTC |
p.T99I |
Missense |
4/106 |
- |
1 |
19-38934223-C-T |
c.296C>T |
p.T99M |
Missense |
4/106 |
- |
2 |
19-38934224-G-A |
c.297G>A |
p.T99= |
Synonymous |
4/106 |
- |
2 |
19-38934224-G-C |
c.297G>C |
p.T99= |
Synonymous |
4/106 |
- |
1 |
19-38934224-G-T |
c.297G>T |
p.T99= |
Synonymous |
4/106 |
- |
1 |
19-38934225-GC-G |
c.298del |
p.L100Sfs*18 |
Frameshift |
4/106 |
- |
1 |
19-38934227-C-T |
c.300C>T |
p.L100= |
Synonymous |
4/106 |
- |
1 |
19-38934228-CTG-ATC |
c.301_303delinsATC |
p.L101I |
Missense |
4/106 |
- |
1 |
19-38934228-CTG-TTT |
c.301_303delinsTTT |
p.L101F |
Missense |
4/106 |
- |
1 |
19-38934231-T-TA |
c.305dup |
p.Y102* |
Nonsense |
4/106 |
- |
1 |
19-38934232-A-G |
c.305A>G |
p.Y102C |
Missense |
4/106 |
- |
1 |
19-38934234-G-A |
c.307G>A |
p.G103S |
Missense |
4/106 |
- |
3 |
19-38934234-G-C |
c.307G>C |
p.G103R |
Missense |
4/106 |
- |
1 |
19-38934235-G-A |
c.308G>A |
p.G103D |
Missense |
4/106 |
- |
4 |
19-38934236-C-A |
c.309C>A |
p.G103= |
Synonymous |
4/106 |
- |
1 |
19-38934236-C-G |
c.309C>G |
p.G103= |
Synonymous |
4/106 |
- |
1 |
19-38934236-C-T |
c.309C>T |
p.G103= |
Synonymous |
4/106 |
- |
1 |
19-38934236-GCCAT-G |
c.309_312del |
p.H104Pfs*13 |
Frameshift |
4/106 |
- |
1 |
19-38934237-C-T |
c.310C>T |
p.H104Y |
Missense |
4/106 |
- |
1 |
19-38934241-C-A |
c.314C>A |
p.A105D |
Missense |
4/106 |
- |
1 |
19-38934241-C-T |
c.314C>T |
p.A105V |
Missense |
4/106 |
- |
1 |
19-38934246-C-G |
c.319C>G |
p.L107V |
Missense |
4/106 |
- |
1 |
19-38934246-C-T |
c.319C>T |
p.L107= |
Synonymous |
4/106 |
- |
1 |
19-38934248-G-A |
c.321G>A |
p.L107= |
Synonymous |
4/106 |
- |
1 |
19-38934248-G-T |
c.321G>T |
p.L107= |
Synonymous |
4/106 |
- |
1 |
19-38934249-C-A |
c.322C>A |
p.L108I |
Missense |
4/106 |
- |
1 |
19-38934251-C-A |
c.324C>A |
p.L108= |
Synonymous |
4/106 |
- |
1 |
19-38934251-C-G |
c.324C>G |
p.L108= |
Synonymous |
4/106 |
- |
1 |
19-38934251-C-T |
c.324C>T |
p.L108= |
Synonymous |
4/106 |
- |
1 |
19-38934252-CGG-TGT |
c.325_327delinsTGT |
p.R109C |
Missense |
4/106 |
- |
1 |
19-38934252-C-T |
c.325C>T |
p.R109W |
Missense |
4/106 |
- |
32 |
19-38934253-GG-AT |
c.326_327delinsAT |
p.R109H |
Missense |
4/106 |
- |
1 |
19-38934253-G-T |
c.326G>T |
p.R109L |
Missense |
4/106 |
- |
1 |
19-38934254-G-A |
c.327G>A |
p.R109= |
Synonymous |
4/106 |
- |
1 |
19-38934255-C-A |
c.328C>A |
p.H110N |
Missense |
4/106 |
- |
2 |
19-38934255-C-T |
c.328C>T |
p.H110Y |
Missense |
4/106 |
- |
1 |
19-38934256-A-G |
c.329A>G |
p.H110R |
Missense |
4/106 |
- |
1 |
19-38934257-T-A |
c.330T>A |
p.H110Q |
Missense |
4/106 |
- |
2 |
19-38934257-T-C |
c.330T>C |
p.H110= |
Synonymous |
4/106 |
- |
1 |
19-38934257-T-G |
c.330T>G |
p.H110Q |
Missense |
4/106 |
- |
2 |
19-38934258-G-A |
c.331G>A |
p.A111T |
Missense |
4/106 |
- |
1 |
19-38934258-G-C |
c.331G>C |
p.A111P |
Missense |
4/106 |
- |
1 |
19-38934259-C-A |
c.332C>A |
p.A111E |
Missense |
4/106 |
- |
1 |
19-38934259-C-T |
c.332C>T |
p.A111V |
Missense |
4/106 |
- |
1 |
19-38934260-A-C |
c.333A>C |
p.A111= |
Synonymous |
4/106 |
- |
1 |
19-38934260-A-G |
c.333A>G |
p.A111= |
Synonymous |
4/106 |
- |
1 |
19-38934260-A-T |
c.333A>T |
p.A111= |
Synonymous |
4/106 |
- |
1 |
19-38934262-A-G |
c.335A>G |
p.H112R |
Missense |
4/106 |
- |
1 |
19-38934263-C-G |
c.336C>G |
p.H112Q |
Missense |
4/106 |
- |
1 |
19-38934263-C-T |
c.336C>T |
p.H112= |
Synonymous |
4/106 |
- |
1 |
19-38934264-AG-CT |
c.337_338inv |
p.S113L |
Missense |
4/106 |
- |
1 |
19-38934265-AG-A |
c.338del |
p.S113Tfs*5 |
Frameshift |
4/106 |
- |
1 |
19-38934264-A-C |
c.337A>C |
p.S113R |
Missense |
4/106 |
- |
1 |
19-38934266-C-A |
c.339C>A |
p.S113R |
Missense |
4/106 |
- |
1 |
19-38934266-C-G |
c.339C>G |
p.S113R |
Missense |
4/106 |
- |
1 |
19-38934267-CGC-TGA |
c.340_342delinsTGA |
p.R114* |
Nonsense |
4/106 |
- |
1 |
19-38934267-CGC-TGG |
c.340_342delinsTGG |
p.R114W |
Missense |
4/106 |
- |
1 |
19-38934267-C-T |
c.340C>T |
p.R114C |
Missense |
4/106 |
- |
1 |
19-38934268-G-A |
c.341G>A |
p.R114H |
Missense |
4/106 |
- |
6 |
19-38934268-G-C |
c.341G>C |
p.R114P |
Missense |
4/106 |
- |
1 |
19-38934268-GC-AA |
c.341_342delinsAA |
p.R114Q |
Missense |
4/106 |
- |
1 |
19-38934268-G-T |
c.341G>T |
p.R114L |
Missense |
4/106 |
- |
1 |
19-38934269-C-T |
c.342C>T |
p.R114= |
Synonymous |
4/106 |
- |
1 |
19-38934274-T-C |
c.345+2T>C |
- |
IntronicSNV |
- |
4/105 |
1 |
19-38934274-T-G |
c.345+2T>G |
- |
IntronicSNV |
- |
4/105 |
1 |
19-38934360-T-A |
c.348T>A |
p.Y116* |
Nonsense |
5/106 |
- |
1 |
19-38934360-T-G |
c.348T>G |
p.Y116* |
Nonsense |
5/106 |
- |
1 |
19-38934361-C-G |
c.349C>G |
p.L117V |
Missense |
5/106 |
- |
5 |
19-38934361-CTG-TTT |
c.349_351delinsTTT |
p.L117F |
Missense |
5/106 |
- |
1 |
19-38934362-T-TG |
c.351dup |
p.S118Efs*11 |
Frameshift |
5/106 |
- |
1 |
19-38934363-G-C |
c.351G>C |
p.L117= |
Synonymous |
5/106 |
- |
1 |
19-38934364-AG-CC |
c.352_353delinsCC |
p.S118P |
Missense |
5/106 |
- |
1 |
19-38934368-G-A |
c.356G>A |
p.C119Y |
Missense |
5/106 |
- |
2 |
19-38934370-C-T |
c.358C>T |
p.L120F |
Missense |
5/106 |
- |
5 |
19-38934373-AC-GG |
c.361_362delinsGG |
p.T121G |
Missense |
5/106 |
- |
1 |
19-38934374-C-A |
c.362C>A |
p.T121N |
Missense |
5/106 |
- |
2 |
19-38934374-C-T |
c.362C>T |
p.T121I |
Missense |
5/106 |
- |
1 |
19-38934373-AC-A |
c.363del |
p.T122Pfs*5 |
Frameshift |
5/106 |
- |
1 |
19-38934376-A-C |
c.364A>C |
p.T122P |
Missense |
5/106 |
- |
1 |
19-38934377-C-A |
c.365C>A |
p.T122N |
Missense |
5/106 |
- |
1 |
19-38934378-C-A |
c.366C>A |
p.T122= |
Synonymous |
5/106 |
- |
1 |
19-38934378-C-G |
c.366C>G |
p.T122= |
Synonymous |
5/106 |
- |
1 |
19-38934378-C-T |
c.366C>T |
p.T122= |
Synonymous |
5/106 |
- |
1 |
19-38934380-C-A |
c.368C>A |
p.S123Y |
Missense |
5/106 |
- |
1 |
19-38934381-C-T |
c.369C>T |
p.S123= |
Synonymous |
5/106 |
- |
1 |
19-38934382-C-T |
c.370C>T |
p.R124C |
Missense |
5/106 |
- |
3 |
19-38934383-G-A |
c.371G>A |
p.R124H |
Missense |
5/106 |
- |
1 |
19-38934383-G-T |
c.371G>T |
p.R124L |
Missense |
5/106 |
- |
1 |
19-38934384-C-A |
c.372C>A |
p.R124= |
Synonymous |
5/106 |
- |
1 |
19-38934384-C-G |
c.372C>G |
p.R124= |
Synonymous |
5/106 |
- |
1 |
19-38934384-C-T |
c.372C>T |
p.R124= |
Synonymous |
5/106 |
- |
1 |
19-38934385-CT-C |
c.373del |
p.S125Pfs*2 |
Frameshift |
5/106 |
- |
1 |
19-38934386-C-G |
c.374C>G |
p.S125C |
Missense |
5/106 |
- |
1 |
19-38934386-C-T |
c.374C>T |
p.S125F |
Missense |
5/106 |
- |
2 |
19-38934388-A-G |
c.376A>G |
p.M126V |
Missense |
5/106 |
- |
1 |
19-38934390-G-A |
c.378G>A |
p.M126I |
Missense |
5/106 |
- |
2 |
19-38934390-G-C |
c.378G>C |
p.M126I |
Missense |
5/106 |
- |
2 |
19-38934390-G-T |
c.378G>T |
p.M126I |
Missense |
5/106 |
- |
2 |
19-38934392-CT-TG |
c.380_381delinsTG |
p.T127M |
Missense |
5/106 |
- |
1 |
19-38934394-G-A |
c.382G>A |
p.D128N |
Missense |
5/106 |
- |
1 |
19-38934394-G-C |
c.382G>C |
p.D128H |
Missense |
5/106 |
- |
1 |
19-38934398-A-G |
c.386A>G |
p.K129R |
Missense |
5/106 |
- |
1 |
19-38934400-C-G |
c.388C>G |
p.L130V |
Missense |
5/106 |
- |
1 |
19-38934400-C-T |
c.388C>T |
p.L130= |
Synonymous |
5/106 |
- |
2 |
19-38934402-G-A |
c.390G>A |
p.L130= |
Synonymous |
5/106 |
- |
1 |
19-38934402-G-C |
c.390G>C |
p.L130= |
Synonymous |
5/106 |
- |
1 |
19-38934402-G-T |
c.390G>T |
p.L130= |
Synonymous |
5/106 |
- |
1 |
19-38934403-G-A |
c.391G>A |
p.A131T |
Missense |
5/106 |
- |
2 |
19-38934404-C-G |
c.392C>G |
p.A131G |
Missense |
5/106 |
- |
1 |
19-38934405-C-G |
c.393C>G |
p.A131= |
Synonymous |
5/106 |
- |
1 |
19-38934406-T-C |
c.394T>C |
p.F132L |
Missense |
5/106 |
- |
1 |
19-38934407-T-G |
c.395T>G |
p.F132C |
Missense |
5/106 |
- |
1 |
19-38934409-G-A |
c.397G>A |
p.D133N |
Missense |
5/106 |
- |
3 |
19-38934409-G-T |
c.397G>T |
p.D133Y |
Missense |
5/106 |
- |
1 |
19-38934413-T-C |
c.401T>C |
p.V134A |
Missense |
5/106 |
- |
1 |
19-38934414-G-A |
c.402G>A |
p.V134= |
Synonymous |
5/106 |
- |
1 |
19-38934415-G-A |
c.403G>A |
p.G135R |
Missense |
5/106 |
- |
2 |
19-38934415-G-C |
c.403G>C |
p.G135R |
Missense |
5/106 |
- |
2 |
19-38934416-G-A |
c.404G>A |
p.G135E |
Missense |
5/106 |
- |
2 |
19-38934418-C-G |
c.406C>G |
p.L136V |
Missense |
5/106 |
- |
1 |
19-38934419-T-G |
c.407T>G |
p.L136R |
Missense |
5/106 |
- |
3 |
19-38934420-G-T |
c.408G>T |
p.L136= |
Synonymous |
5/106 |
- |
1 |
19-38934421-C-G |
c.409C>G |
p.Q137E |
Missense |
5/106 |
- |
2 |
19-38934422-A-T |
c.410A>T |
p.Q137L |
Missense |
5/106 |
- |
1 |
19-38934423-G-C |
c.411G>C |
p.Q137H |
Missense |
5/106 |
- |
1 |
19-38934423-G-T |
c.411G>T |
p.Q137H |
Missense |
5/106 |
- |
1 |
19-38934424-G-A |
c.412G>A |
p.E138K |
Missense |
5/106 |
- |
3 |
19-38934425-A-C |
c.413A>C |
p.E138A |
Missense |
5/106 |
- |
1 |
19-38934427-G-T |
c.415G>T |
p.D139Y |
Missense |
5/106 |
- |
1 |
19-38934428-A-G |
c.416A>G |
p.D139G |
Missense |
5/106 |
- |
1 |
19-38934429-C-A |
c.417C>A |
p.D139E |
Missense |
5/106 |
- |
1 |
19-38934429-C-T |
c.417C>T |
p.D139= |
Synonymous |
5/106 |
- |
1 |
19-38934430-G-A |
c.418G>A |
p.A140T |
Missense |
5/106 |
- |
5 |
19-38934430-G-T |
c.418G>T |
p.A140S |
Missense |
5/106 |
- |
1 |
19-38934431-C-A |
c.419C>A |
p.A140E |
Missense |
5/106 |
- |
1 |
19-38934431-C-G |
c.419C>G |
p.A140G |
Missense |
5/106 |
- |
1 |
19-38934431-C-T |
c.419C>T |
p.A140V |
Missense |
5/106 |
- |
1 |
19-38934434-CA-TG |
c.422_423inv |
p.T141M |
Missense |
5/106 |
- |
1 |
19-38934435-A-T |
c.423A>T |
p.T141= |
Synonymous |
5/106 |
- |
1 |
19-38934436-G-A |
c.424G>A |
p.G142R |
Missense |
5/106 |
- |
2 |
19-38934436-G-C |
c.424G>C |
p.G142R |
Missense |
5/106 |
- |
1 |
19-38934436-G-T |
c.424G>T |
p.G142* |
Nonsense |
5/106 |
- |
2 |
19-38934437-G-A |
c.424+1G>A |
- |
IntronicSNV |
- |
5/105 |
1 |
19-38934437-G-C |
c.424+1G>C |
- |
IntronicSNV |
- |
5/105 |
2 |
19-38934788-G-A |
c.425-1G>A |
- |
IntronicSNV |
- |
5/105 |
1 |
19-38934789-G-A |
c.425G>A |
p.G142E |
Missense |
6/106 |
- |
4 |
19-38934789-GA-AC |
c.425_426delinsAC |
p.G142D |
Missense |
6/106 |
- |
3 |
19-38934789-G-C |
c.425G>C |
p.G142A |
Missense |
6/106 |
- |
1 |
19-38934791-G-A |
c.427G>A |
p.E143K |
Missense |
6/106 |
- |
1 |
19-38934791-G-T |
c.427G>T |
p.E143* |
Nonsense |
6/106 |
- |
1 |
19-38934794-GGCT-G |
c.430_432del |
p.A144del |
InFrameDeletion |
6/106 |
- |
1 |
19-38934795-C-T |
c.431C>T |
p.A144V |
Missense |
6/106 |
- |
2 |
19-38934795-GC-G |
c.431del |
p.A144Vfs*58 |
Frameshift |
6/106 |
- |
1 |
19-38934795-C-CT |
c.433dup |
p.C145Lfs*14 |
Frameshift |
6/106 |
- |
1 |
19-38934797-TG-GC |
c.433_434delinsGC |
p.C145A |
Missense |
6/106 |
- |
1 |
19-38934798-G-A |
c.434G>A |
p.C145Y |
Missense |
6/106 |
- |
1 |
19-38934798-G-T |
c.434G>T |
p.C145F |
Missense |
6/106 |
- |
1 |
19-38934799-C-A |
c.435C>A |
p.C145* |
Nonsense |
6/106 |
- |
1 |
19-38934801-G-C |
c.437G>C |
p.W146S |
Missense |
6/106 |
- |
1 |
19-38934804-G-A |
c.440G>A |
p.W147* |
Nonsense |
6/106 |
- |
2 |
19-38934805-G-A |
c.441G>A |
p.W147* |
Nonsense |
6/106 |
- |
1 |
19-38934807-C-A |
c.443C>A |
p.T148N |
Missense |
6/106 |
- |
1 |
19-38934807-C-T |
c.443C>T |
p.T148I |
Missense |
6/106 |
- |
3 |
19-38934808-C-A |
c.444C>A |
p.T148= |
Synonymous |
6/106 |
- |
1 |
19-38934808-C-G |
c.444C>G |
p.T148= |
Synonymous |
6/106 |
- |
1 |
19-38934808-C-T |
c.444C>T |
p.T148= |
Synonymous |
6/106 |
- |
2 |
19-38934809-A-T |
c.445A>T |
p.M149L |
Missense |
6/106 |
- |
1 |
19-38934810-T-C |
c.446T>C |
p.M149T |
Missense |
6/106 |
- |
1 |
19-38934811-G-A |
c.447G>A |
p.M149I |
Missense |
6/106 |
- |
3 |
19-38934811-G-T |
c.447G>T |
p.M149I |
Missense |
6/106 |
- |
2 |
19-38934812-C-T |
c.448C>T |
p.H150Y |
Missense |
6/106 |
- |
1 |
19-38934816-C-T |
c.452C>T |
p.P151L |
Missense |
6/106 |
- |
2 |
19-38934817-A-C |
c.453A>C |
p.P151= |
Synonymous |
6/106 |
- |
2 |
19-38934817-A-G |
c.453A>G |
p.P151= |
Synonymous |
6/106 |
- |
2 |
19-38934817-A-T |
c.453A>T |
p.P151= |
Synonymous |
6/106 |
- |
2 |
19-38934818-G-A |
c.454G>A |
p.A152T |
Missense |
6/106 |
- |
1 |
19-38934819-C-A |
c.455C>A |
p.A152D |
Missense |
6/106 |
- |
1 |
19-38934819-C-T |
c.455C>T |
p.A152V |
Missense |
6/106 |
- |
3 |
19-38934821-T-G |
c.457T>G |
p.S153A |
Missense |
6/106 |
- |
1 |
19-38934822-C-A |
c.458C>A |
p.S153Y |
Missense |
6/106 |
- |
1 |
19-38934822-C-T |
c.458C>T |
p.S153F |
Missense |
6/106 |
- |
2 |
19-38934823-C-T |
c.459C>T |
p.S153= |
Synonymous |
6/106 |
- |
4 |
19-38934827-C-A |
c.463C>A |
p.Q155K |
Missense |
6/106 |
- |
2 |
19-38934827-C-G |
c.463C>G |
p.Q155E |
Missense |
6/106 |
- |
1 |
19-38934828-A-C |
c.464A>C |
p.Q155P |
Missense |
6/106 |
- |
1 |
19-38934828-A-G |
c.464A>G |
p.Q155R |
Missense |
6/106 |
- |
1 |
19-38934828-A-T |
c.464A>T |
p.Q155L |
Missense |
6/106 |
- |
1 |
19-38934830-AGG-TGT |
c.466_468delinsTGT |
p.R156C |
Missense |
6/106 |
- |
1 |
19-38934830-A-T |
c.466A>T |
p.R156W |
Missense |
6/106 |
- |
2 |
19-38934831-G-A |
c.467G>A |
p.R156K |
Missense |
6/106 |
- |
3 |
19-38934832-GTC-G |
c.470_471del |
p.S157* |
Frameshift |
6/106 |
- |
1 |
19-38934834-C-A |
c.470C>A |
p.S157Y |
Missense |
6/106 |
- |
1 |
19-38934835-T-A |
c.471T>A |
p.S157= |
Synonymous |
6/106 |
- |
1 |
19-38934835-T-C |
c.471T>C |
p.S157= |
Synonymous |
6/106 |
- |
1 |
19-38934835-T-G |
c.471T>G |
p.S157= |
Synonymous |
6/106 |
- |
1 |
19-38934835-TGAA-T |
c.473_475del |
p.E158del |
InFrameDeletion |
6/106 |
- |
1 |
19-38934836-G-GA |
c.474dup |
p.G159Rfs*9 |
Frameshift |
6/106 |
- |
1 |
19-38934839-GGA-AGC |
c.475_477delinsAGC |
p.G159S |
Missense |
6/106 |
- |
2 |
19-38934840-G-A |
c.476G>A |
p.G159E |
Missense |
6/106 |
- |
2 |
19-38934841-A-C |
c.477A>C |
p.G159= |
Synonymous |
6/106 |
- |
1 |
19-38934841-A-G |
c.477A>G |
p.G159= |
Synonymous |
6/106 |
- |
1 |
19-38934841-A-T |
c.477A>T |
p.G159= |
Synonymous |
6/106 |
- |
1 |
19-38934843-A-G |
c.479A>G |
p.E160G |
Missense |
6/106 |
- |
5 |
19-38934843-A-T |
c.479A>T |
p.E160V |
Missense |
6/106 |
- |
1 |
19-38934847-G-A |
c.483G>A |
p.K161= |
Synonymous |
6/106 |
- |
1 |
19-38934848-G-A |
c.484G>A |
p.V162I |
Missense |
6/106 |
- |
1 |
19-38934851-C-A |
c.487C>A |
p.R163S |
Missense |
6/106 |
- |
2 |
19-38934851-C-T |
c.487C>T |
p.R163C |
Missense |
6/106 |
- |
87 |
19-38934852-G-A |
c.488G>A |
p.R163H |
Missense |
6/106 |
- |
5 |
19-38934852-GC-AA |
c.488_489delinsAA |
p.R163Q |
Missense |
6/106 |
- |
2 |
19-38934852-G-T |
c.488G>T |
p.R163L |
Missense |
6/106 |
- |
15 |
19-38934853-C-T |
c.489C>T |
p.R163= |
Synonymous |
6/106 |
- |
1 |
19-38934854-G-A |
c.490G>A |
p.V164I |
Missense |
6/106 |
- |
2 |
19-38934854-G-C |
c.490G>C |
p.V164L |
Missense |
6/106 |
- |
1 |
19-38934854-G-T |
c.490G>T |
p.V164F |
Missense |
6/106 |
- |
1 |
19-38934857-G-A |
c.493G>A |
p.G165R |
Missense |
6/106 |
- |
6 |
19-38934857-G-C |
c.493G>C |
p.G165R |
Missense |
6/106 |
- |
6 |
19-38934858-G-C |
c.494G>C |
p.G165A |
Missense |
6/106 |
- |
1 |
19-38934859-G-A |
c.495G>A |
p.G165= |
Synonymous |
6/106 |
- |
2 |
19-38934859-G-C |
c.495G>C |
p.G165= |
Synonymous |
6/106 |
- |
2 |
19-38934859-G-T |
c.495G>T |
p.G165= |
Synonymous |
6/106 |
- |
2 |
19-38934860-G-A |
c.496G>A |
p.D166N |
Missense |
6/106 |
- |
5 |
19-38934861-A-G |
c.497A>G |
p.D166G |
Missense |
6/106 |
- |
1 |
19-38934861-GAT-G |
c.497_498del |
p.D166Gfs*25 |
Frameshift |
6/106 |
- |
1 |
19-38934863-G-A |
c.499G>A |
p.D167N |
Missense |
6/106 |
- |
1 |
19-38934864-A-G |
c.500A>G |
p.D167G |
Missense |
6/106 |
- |
1 |
19-38934865-C-A |
c.501C>A |
p.D167E |
Missense |
6/106 |
- |
1 |
19-38934865-C-G |
c.501C>G |
p.D167E |
Missense |
6/106 |
- |
1 |
19-38934871-C-G |
c.507C>G |
p.I169M |
Missense |
6/106 |
- |
1 |
19-38934871-C-T |
c.507C>T |
p.I169= |
Synonymous |
6/106 |
- |
4 |
19-38934872-C-A |
c.508C>A |
p.L170I |
Missense |
6/106 |
- |
1 |
19-38934872-C-T |
c.508C>T |
p.L170F |
Missense |
6/106 |
- |
1 |
19-38934875-G-A |
c.511G>A |
p.V171I |
Missense |
6/106 |
- |
1 |
19-38934878-A-G |
c.514A>G |
p.S172G |
Missense |
6/106 |
- |
2 |
19-38934878-A-T |
c.514A>T |
p.S172C |
Missense |
6/106 |
- |
1 |
19-38934878-A-C |
c.514A>C |
p.S172R |
Missense |
6/106 |
- |
1 |
19-38934880-T-A |
c.516T>A |
p.S172R |
Missense |
6/106 |
- |
1 |
19-38934880-T-G |
c.516T>G |
p.S172R |
Missense |
6/106 |
- |
1 |
19-38934881-GTC-ATG |
c.517_519delinsATG |
p.V173M |
Missense |
6/106 |
- |
1 |
19-38934883-C-T |
c.519C>T |
p.V173= |
Synonymous |
6/106 |
- |
1 |
19-38934884-T-G |
c.520T>G |
p.S174A |
Missense |
6/106 |
- |
1 |
19-38934885-C-A |
c.521C>A |
p.S174Y |
Missense |
6/106 |
- |
2 |
19-38934885-C-G |
c.521C>G |
p.S174C |
Missense |
6/106 |
- |
2 |
19-38934889-C-T |
c.525C>T |
p.S175= |
Synonymous |
6/106 |
- |
1 |
19-38934890-G-A |
c.526G>A |
p.E176K |
Missense |
6/106 |
- |
6 |
19-38934890-G-T |
c.526G>T |
p.E176* |
Nonsense |
6/106 |
- |
1 |
19-38934892-AG-A |
c.528del |
p.E176Dfs*26 |
Frameshift |
6/106 |
- |
1 |
19-38934892-G-A |
c.528G>A |
p.E176= |
Synonymous |
6/106 |
- |
1 |
19-38934893-C-G |
c.529C>G |
p.R177G |
Missense |
6/106 |
- |
3 |
19-38934893-CG-AC |
c.529_530delinsAC |
p.R177T |
Missense |
6/106 |
- |
1 |
19-38934893-CGC-TGG |
c.529_531delinsTGG |
p.R177W |
Missense |
6/106 |
- |
2 |
19-38934893-C-T |
c.529C>T |
p.R177C |
Missense |
6/106 |
- |
10 |
19-38934894-G-A |
c.530G>A |
p.R177H |
Missense |
6/106 |
- |
1 |
19-38934894-GC-AA |
c.530_531delinsAA |
p.R177Q |
Missense |
6/106 |
- |
1 |
19-38934895-C-A |
c.531C>A |
p.R177= |
Synonymous |
6/106 |
- |
1 |
19-38934895-C-G |
c.531C>G |
p.R177= |
Synonymous |
6/106 |
- |
1 |
19-38934895-C-T |
c.531C>T |
p.R177= |
Synonymous |
6/106 |
- |
1 |
19-38934897-A-G |
c.533A>G |
p.Y178C |
Missense |
6/106 |
- |
3 |
19-38934899-C-G |
c.535C>G |
p.L179V |
Missense |
6/106 |
- |
1 |
19-38934899-C-T |
c.535C>T |
p.L179= |
Synonymous |
6/106 |
- |
1 |
19-38934900-T-C |
c.536T>C |
p.L179P |
Missense |
6/106 |
- |
1 |
19-38935224-C-T |
c.538C>T |
p.H180Y |
Missense |
7/106 |
- |
2 |
19-38935227-C-A |
c.541C>A |
p.L181M |
Missense |
7/106 |
- |
1 |
19-38935227-C-T |
c.541C>T |
p.L181= |
Synonymous |
7/106 |
- |
1 |
19-38935229-G-A |
c.543G>A |
p.L181= |
Synonymous |
7/106 |
- |
1 |
19-38935229-G-C |
c.543G>C |
p.L181= |
Synonymous |
7/106 |
- |
1 |
19-38935229-G-T |
c.543G>T |
p.L181= |
Synonymous |
7/106 |
- |
1 |
19-38935230-T-G |
c.544T>G |
p.S182A |
Missense |
7/106 |
- |
1 |
19-38935231-C-T |
c.545C>T |
p.S182L |
Missense |
7/106 |
- |
1 |
19-38935232-G-A |
c.546G>A |
p.S182= |
Synonymous |
7/106 |
- |
3 |
19-38935232-G-C |
c.546G>C |
p.S182= |
Synonymous |
7/106 |
- |
2 |
19-38935232-G-T |
c.546G>T |
p.S182= |
Synonymous |
7/106 |
- |
2 |
19-38935234-C-A |
c.548C>A |
p.T183N |
Missense |
7/106 |
- |
2 |
19-38935234-C-T |
c.548C>T |
p.T183I |
Missense |
7/106 |
- |
1 |
19-38935235-C-T |
c.549C>T |
p.T183= |
Synonymous |
7/106 |
- |
3 |
19-38935236-G-A |
c.550G>A |
p.A184T |
Missense |
7/106 |
- |
4 |
19-38935236-G-T |
c.550G>T |
p.A184S |
Missense |
7/106 |
- |
1 |
19-38935237-CC-AG |
c.551_552delinsAG |
p.A184E |
Missense |
7/106 |
- |
1 |
19-38935237-C-T |
c.551C>T |
p.A184V |
Missense |
7/106 |
- |
1 |
19-38935238-C-T |
c.552C>T |
p.A184= |
Synonymous |
7/106 |
- |
1 |
19-38935240-G-A |
c.554G>A |
p.S185N |
Missense |
7/106 |
- |
2 |
19-38935241-T-G |
c.555T>G |
p.S185R |
Missense |
7/106 |
- |
1 |
19-38935242-G-A |
c.556G>A |
p.G186R |
Missense |
7/106 |
- |
1 |
19-38935243-G-A |
c.557G>A |
p.G186E |
Missense |
7/106 |
- |
5 |
19-38935245-G-A |
c.559G>A |
p.E187K |
Missense |
7/106 |
- |
6 |
19-38935245-G-T |
c.559G>T |
p.E187* |
Nonsense |
7/106 |
- |
1 |
19-38935247-G-A |
c.561G>A |
p.E187= |
Synonymous |
7/106 |
- |
1 |
19-38935248-C-G |
c.562C>G |
p.L188V |
Missense |
7/106 |
- |
1 |
19-38935248-C-T |
c.562C>T |
p.L188F |
Missense |
7/106 |
- |
1 |
19-38935248-GC-G |
c.562del |
p.L188Sfs*14 |
Frameshift |
7/106 |
- |
1 |
19-38935249-T-C |
c.563T>C |
p.L188P |
Missense |
7/106 |
- |
1 |
19-38935251-C-A |
c.565C>A |
p.Q189K |
Missense |
7/106 |
- |
1 |
19-38935253-G-A |
c.567G>A |
p.Q189= |
Synonymous |
7/106 |
- |
1 |
19-38935255-T-A |
c.569T>A |
p.V190D |
Missense |
7/106 |
- |
1 |
19-38935255-T-C |
c.569T>C |
p.V190A |
Missense |
7/106 |
- |
1 |
19-38935258-GA-G |
c.572del |
p.D191Afs*11 |
Frameshift |
7/106 |
- |
1 |
19-38935259-C-A |
c.573C>A |
p.D191E |
Missense |
7/106 |
- |
1 |
19-38935259-C-T |
c.573C>T |
p.D191= |
Synonymous |
7/106 |
- |
4 |
19-38935260-G-A |
c.574G>A |
p.A192T |
Missense |
7/106 |
- |
2 |
19-38935260-G-T |
c.574G>T |
p.A192S |
Missense |
7/106 |
- |
1 |
19-38935263-TC-CT |
c.577_578delinsCT |
p.S193L |
Missense |
7/106 |
- |
1 |
19-38935264-C-G |
c.578C>G |
p.S193C |
Missense |
7/106 |
- |
2 |
19-38935264-C-T |
c.578C>T |
p.S193F |
Missense |
7/106 |
- |
3 |
19-38935265-C-A |
c.579C>A |
p.S193= |
Synonymous |
7/106 |
- |
1 |
19-38935265-C-G |
c.579C>G |
p.S193= |
Synonymous |
7/106 |
- |
1 |
19-38935265-C-T |
c.579C>T |
p.S193= |
Synonymous |
7/106 |
- |
1 |
19-38935268-C-T |
c.582C>T |
p.F194= |
Synonymous |
7/106 |
- |
1 |
19-38935273-A-G |
c.587A>G |
p.Q196R |
Missense |
7/106 |
- |
1 |
19-38935274-G-A |
c.588G>A |
p.Q196= |
Synonymous |
7/106 |
- |
1 |
19-38935276-C-T |
c.590C>T |
p.T197I |
Missense |
7/106 |
- |
2 |
19-38935278-C-T |
c.592C>T |
p.L198= |
Synonymous |
7/106 |
- |
3 |
19-38935280-A-C |
c.594A>C |
p.L198= |
Synonymous |
7/106 |
- |
3 |
19-38935280-A-G |
c.594A>G |
p.L198= |
Synonymous |
7/106 |
- |
33 |
19-38935280-A-T |
c.594A>T |
p.L198= |
Synonymous |
7/106 |
- |
3 |
19-38935281-ATGGAACATGAACCCCATCTGCTCCCGCTGCGAAGAGGGTGAGGGCCCCAGACCTCCCCC-A |
c.596_631+23del |
- |
Multi:SpliceDonorDeletion,SpliceAcceptorDeletion |
7/106 |
7/105 |
1 |
19-38935282-G-A |
c.596G>A |
p.W199* |
Nonsense |
7/106 |
- |
1 |
19-38935282-G-T |
c.596G>T |
p.W199L |
Missense |
7/106 |
- |
1 |
19-38935283-G-A |
c.597G>A |
p.W199* |
Nonsense |
7/106 |
- |
2 |
19-38935284-A-C |
c.598A>C |
p.N200H |
Missense |
7/106 |
- |
1 |
19-38935287-A-G |
c.601A>G |
p.M201V |
Missense |
7/106 |
- |
1 |
19-38935287-AT-TA |
c.601_602delinsTA |
p.M201* |
Nonsense |
7/106 |
- |
1 |
19-38935289-TG-T |
c.603del |
p.M201Ifs*13 |
Frameshift |
7/106 |
- |
1 |
19-38935290-A-T |
c.604A>T |
p.N202Y |
Missense |
7/106 |
- |
1 |
19-38935292-C-G |
c.606C>G |
p.N202K |
Missense |
7/106 |
- |
1 |
19-38935293-C-A |
c.607C>A |
p.P203T |
Missense |
7/106 |
- |
2 |
19-38935293-C-T |
c.607C>T |
p.P203S |
Missense |
7/106 |
- |
1 |
19-38935291-AC-A |
c.609del |
p.I204Sfs*10 |
Frameshift |
7/106 |
- |
1 |
19-38935298-C-A |
c.612C>A |
p.I204= |
Synonymous |
7/106 |
- |
1 |
19-38935298-C-T |
c.612C>T |
p.I204= |
Synonymous |
7/106 |
- |
2 |
19-38935299-T-A |
c.613T>A |
p.C205S |
Missense |
7/106 |
- |
1 |
19-38935300-G-C |
c.614G>C |
p.C205S |
Missense |
7/106 |
- |
4 |
19-38935301-C-A |
c.615C>A |
p.C205* |
Nonsense |
7/106 |
- |
1 |
19-38935301-C-T |
c.615C>T |
p.C205= |
Synonymous |
7/106 |
- |
1 |
19-38935303-C-A |
c.617C>A |
p.S206Y |
Missense |
7/106 |
- |
1 |
19-38935303-C-T |
c.617C>T |
p.S206F |
Missense |
7/106 |
- |
1 |
19-38935305-C-A |
c.619C>A |
p.R207S |
Missense |
7/106 |
- |
2 |
19-38935305-CGC-TGG |
c.619_621delinsTGG |
p.R207W |
Missense |
7/106 |
- |
1 |
19-38935305-CG-TT |
c.619_620delinsTT |
p.R207F |
Missense |
7/106 |
- |
1 |
19-38935305-C-T |
c.619C>T |
p.R207C |
Missense |
7/106 |
- |
5 |
19-38935306-GC-AA |
c.620_621delinsAA |
p.R207Q |
Missense |
7/106 |
- |
1 |
19-38935306-G-T |
c.620G>T |
p.R207L |
Missense |
7/106 |
- |
1 |
19-38935309-G-A |
c.623G>A |
p.C208Y |
Missense |
7/106 |
- |
1 |
19-38935311-G-A |
c.625G>A |
p.E209K |
Missense |
7/106 |
- |
3 |
19-38935312-A-T |
c.626A>T |
p.E209V |
Missense |
7/106 |
- |
1 |
19-38935311-GA-G |
c.627del |
p.E210Rfs*4 |
Frameshift |
7/106 |
- |
1 |
19-38935314-G-A |
c.628G>A |
p.E210K |
Missense |
7/106 |
- |
1 |
19-38935317-G-A |
c.631G>A |
p.G211S |
Missense |
7/106 |
- |
3 |
19-38935317-G-C |
c.631G>C |
p.G211R |
Missense |
7/106 |
- |
1 |
19-38935318-G-A |
c.631+1G>A |
- |
IntronicSNV |
- |
7/105 |
4 |
19-38935318-G-T |
c.631+1G>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935350-T-TC |
c.631+39dup |
- |
IntronicInsertion |
- |
7/105 |
1 |
19-38935356-C-CCA |
c.631+39_631+40insCA |
- |
IntronicInsertion |
- |
7/105 |
2 |
19-38935366-C-G |
c.631+49C>G |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935366-C-T |
c.631+49C>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935635-G-A |
c.631+318G>A |
- |
IntronicSNV |
- |
7/105 |
2 |
19-38935635-G-T |
c.631+318G>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935672-G-A |
c.631+355G>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935904-C-A |
c.631+587C>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935904-C-T |
c.631+587C>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935948-C-A |
c.631+631C>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38935948-C-T |
c.631+631C>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936103-C-A |
c.631+786C>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936103-C-G |
c.631+786C>G |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936244-G-A |
c.632-868G>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936277-A-G |
c.632-835A>G |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936351-A-G |
c.632-761A>G |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936420-G-C |
c.632-692G>C |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936420-G-T |
c.632-692G>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936494-A-G |
c.632-618A>G |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936533-G-A |
c.632-579G>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936533-G-T |
c.632-579G>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936653-A-C |
c.632-459A>C |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936729-G-A |
c.632-383G>A |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38936836-C-T |
c.632-276C>T |
- |
IntronicSNV |
- |
7/105 |
1 |
19-38937114-T-A |
c.634T>A |
p.F212I |
Missense |
8/106 |
- |
1 |
19-38937116-C-T |
c.636C>T |
p.F212= |
Synonymous |
8/106 |
- |
1 |
19-38937117-G-A |
c.637G>A |
p.V213M |
Missense |
8/106 |
- |
4 |
19-38937117-GTG-ATC |
c.637_639delinsATC |
p.V213I |
Missense |
8/106 |
- |
1 |
19-38937116-CGT-C |
c.638_639del |
p.V213Dfs*15 |
Frameshift |
8/106 |
- |
1 |
19-38937118-T-G |
c.638T>G |
p.V213G |
Missense |
8/106 |
- |
1 |
19-38937120-A-G |
c.640A>G |
p.T214A |
Missense |
8/106 |
- |
1 |
19-38937121-C-T |
c.641C>T |
p.T214M |
Missense |
8/106 |
- |
7 |
19-38937122-G-A |
c.642G>A |
p.T214= |
Synonymous |
8/106 |
- |
1 |
19-38937122-G-C |
c.642G>C |
p.T214= |
Synonymous |
8/106 |
- |
1 |
19-38937122-G-T |
c.642G>T |
p.T214= |
Synonymous |
8/106 |
- |
1 |
19-38937123-G-A |
c.643G>A |
p.G215R |
Missense |
8/106 |
- |
2 |
19-38937124-G-A |
c.644G>A |
p.G215E |
Missense |
8/106 |
- |
9 |
19-38937124-G-T |
c.644G>T |
p.G215V |
Missense |
8/106 |
- |
1 |
19-38937127-G-A |
c.647G>A |
p.G216D |
Missense |
8/106 |
- |
2 |
19-38937127-GT-AG |
c.647_648delinsAG |
p.G216E |
Missense |
8/106 |
- |
1 |
19-38937132-G-A |
c.652G>A |
p.V218I |
Missense |
8/106 |
- |
5 |
19-38937135-C-A |
c.655C>A |
p.L219I |
Missense |
8/106 |
- |
1 |
19-38937138-CGC-AAG |
c.658_660delinsAAG |
p.R220K |
Missense |
8/106 |
- |
1 |
19-38937138-C-T |
c.658C>T |
p.R220C |
Missense |
8/106 |
- |
5 |
19-38937139-G-A |
c.659G>A |
p.R220H |
Missense |
8/106 |
- |
4 |
19-38937140-C-T |
c.660C>T |
p.R220= |
Synonymous |
8/106 |
- |
1 |
19-38937141-C-G |
c.661C>G |
p.L221V |
Missense |
8/106 |
- |
1 |
19-38937141-C-T |
c.661C>T |
p.L221F |
Missense |
8/106 |
- |
2 |
19-38937141-CTC-AAG |
c.661_663delinsAAG |
p.L221K |
Missense |
8/106 |
- |
1 |
19-38937143-C-A |
c.663C>A |
p.L221= |
Synonymous |
8/106 |
- |
1 |
19-38937143-C-G |
c.663C>G |
p.L221= |
Synonymous |
8/106 |
- |
1 |
19-38937143-C-T |
c.663C>T |
p.L221= |
Synonymous |
8/106 |
- |
1 |
19-38937147-C-G |
c.667C>G |
p.H223D |
Missense |
8/106 |
- |
1 |
19-38937147-C-T |
c.667C>T |
p.H223Y |
Missense |
8/106 |
- |
2 |
19-38937148-A-G |
c.668A>G |
p.H223R |
Missense |
8/106 |
- |
3 |
19-38937150-G-A |
c.670G>A |
p.G224R |
Missense |
8/106 |
- |
1 |
19-38937150-GG-AA |
c.670_671delinsAA |
p.G224K |
Missense |
8/106 |
- |
4 |
19-38937153-C-T |
c.673C>T |
p.H225Y |
Missense |
8/106 |
- |
2 |
19-38937154-A-T |
c.674A>T |
p.H225L |
Missense |
8/106 |
- |
2 |
19-38937155-T-A |
c.675T>A |
p.H225Q |
Missense |
8/106 |
- |
1 |
19-38937155-T-G |
c.675T>G |
p.H225Q |
Missense |
8/106 |
- |
1 |
19-38937156-A-G |
c.676A>G |
p.M226V |
Missense |
8/106 |
- |
2 |
19-38937157-T-A |
c.677T>A |
p.M226K |
Missense |
8/106 |
- |
5 |
19-38937157-T-C |
c.677T>C |
p.M226T |
Missense |
8/106 |
- |
1 |
19-38937158-G-C |
c.678G>C |
p.M226I |
Missense |
8/106 |
- |
1 |
19-38937159-G-T |
c.679G>T |
p.D227Y |
Missense |
8/106 |
- |
1 |
19-38937160-A-T |
c.680A>T |
p.D227V |
Missense |
8/106 |
- |
4 |
19-38937162-G-C |
c.682G>C |
p.E228Q |
Missense |
8/106 |
- |
1 |
19-38937165-T-A |
c.685T>A |
p.C229S |
Missense |
8/106 |
- |
1 |
19-38937165-T-C |
c.685T>C |
p.C229R |
Missense |
8/106 |
- |
2 |
19-38937165-T-G |
c.685T>G |
p.C229G |
Missense |
8/106 |
- |
3 |
19-38937166-G-T |
c.686G>T |
p.C229F |
Missense |
8/106 |
- |
1 |
19-38937168-CTG-TTT |
c.688_690delinsTTT |
p.L230F |
Missense |
8/106 |
- |
1 |
19-38937169-T-G |
c.689T>G |
p.L230R |
Missense |
8/106 |
- |
1 |
19-38937168-C-T |
c.688C>T |
p.L230= |
Synonymous |
8/106 |
- |
1 |
19-38937170-G-A |
c.690G>A |
p.L230= |
Synonymous |
8/106 |
- |
1 |
19-38937170-G-C |
c.690G>C |
p.L230= |
Synonymous |
8/106 |
- |
1 |
19-38937170-G-T |
c.690G>T |
p.L230= |
Synonymous |
8/106 |
- |
1 |
19-38937173-C-A |
c.693C>A |
p.T231= |
Synonymous |
8/106 |
- |
1 |
19-38937173-C-G |
c.693C>G |
p.T231= |
Synonymous |
8/106 |
- |
1 |
19-38937173-C-T |
c.693C>T |
p.T231= |
Synonymous |
8/106 |
- |
1 |
19-38937174-A-C |
c.694A>C |
p.I232L |
Missense |
8/106 |
- |
1 |
19-38937175-T-G |
c.695T>G |
p.I232S |
Missense |
8/106 |
- |
3 |
19-38937177-TC-AT |
c.697_698delinsAT |
p.S233I |
Missense |
8/106 |
- |
1 |
19-38937178-C-T |
c.698C>T |
p.S233F |
Missense |
8/106 |
- |
4 |
19-38937179-C-A |
c.699C>A |
p.S233= |
Synonymous |
8/106 |
- |
1 |
19-38937179-C-G |
c.699C>G |
p.S233= |
Synonymous |
8/106 |
- |
1 |
19-38937179-C-T |
c.699C>T |
p.S233= |
Synonymous |
8/106 |
- |
2 |
19-38937180-C-A |
c.700C>A |
p.P234T |
Missense |
8/106 |
- |
2 |
19-38937180-C-T |
c.700C>T |
p.P234S |
Missense |
8/106 |
- |
4 |
19-38937181-C-T |
c.701C>T |
p.P234L |
Missense |
8/106 |
- |
1 |
19-38937184-GCT-G |
c.704_705del |
p.A235Gfs*3 |
Frameshift |
8/106 |
- |
1 |
19-38937186-G-T |
c.706G>T |
p.D236Y |
Missense |
8/106 |
- |
1 |
19-38937187-A-G |
c.707A>G |
p.D236G |
Missense |
8/106 |
- |
1 |
19-38937188-C-A |
c.708C>A |
p.D236E |
Missense |
8/106 |
- |
1 |
19-38937188-C-T |
c.708C>T |
p.D236= |
Synonymous |
8/106 |
- |
1 |
19-38937189-AG-CC |
c.709_710delinsCC |
p.S237P |
Missense |
8/106 |
- |
1 |
19-38937192-G-A |
c.712G>A |
p.D238N |
Missense |
8/106 |
- |
2 |
19-38937194-T-A |
c.714T>A |
p.D238E |
Missense |
8/106 |
- |
2 |
19-38937195-G-A |
c.715G>A |
p.D239N |
Missense |
8/106 |
- |
1 |
19-38937195-G-C |
c.715G>C |
p.D239H |
Missense |
8/106 |
- |
1 |
19-38937198-C-T |
c.718C>T |
p.Q240* |
Nonsense |
8/106 |
- |
2 |
19-38937200-G-T |
c.720G>T |
p.Q240H |
Missense |
8/106 |
- |
1 |
19-38937201-CGC-TGG |
c.721_723delinsTGG |
p.R241W |
Missense |
8/106 |
- |
1 |
19-38937201-C-T |
c.721C>T |
p.R241C |
Missense |
8/106 |
- |
1 |
19-38937202-G-A |
c.722G>A |
p.R241H |
Missense |
8/106 |
- |
2 |
19-38937202-GC-AA |
c.722_723delinsAA |
p.R241Q |
Missense |
8/106 |
- |
1 |
19-38937204-AG-CC |
c.724_725delinsCC |
p.R242P |
Missense |
8/106 |
- |
1 |
19-38937204-A-T |
c.724A>T |
p.R242* |
Nonsense |
8/106 |
- |
1 |
19-38937211-G-A |
c.725+6G>A |
- |
IntronicSNV |
- |
8/105 |
2 |
19-38937335-C-T |
c.727C>T |
p.L243F |
Missense |
9/106 |
- |
2 |
19-38937336-T-C |
c.728T>C |
p.L243P |
Missense |
9/106 |
- |
1 |
19-38937338-G-A |
c.730G>A |
p.V244I |
Missense |
9/106 |
- |
1 |
19-38937338-G-C |
c.730G>C |
p.V244L |
Missense |
9/106 |
- |
1 |
19-38937340-TC-T |
c.732del |
p.Y245Tfs*20 |
Frameshift |
9/106 |
- |
1 |
19-38937343-C-A |
c.735C>A |
p.Y245* |
Nonsense |
9/106 |
- |
2 |
19-38937343-C-G |
c.735C>G |
p.Y245* |
Nonsense |
9/106 |
- |
2 |
19-38937345-A-G |
c.737A>G |
p.Y246C |
Missense |
9/106 |
- |
5 |
19-38937346-T-C |
c.738T>C |
p.Y246= |
Synonymous |
9/106 |
- |
1 |
19-38937346-T-G |
c.738T>G |
p.Y246* |
Nonsense |
9/106 |
- |
2 |
19-38937347-G-A |
c.739G>A |
p.E247K |
Missense |
9/106 |
- |
7 |
19-38937347-G-T |
c.739G>T |
p.E247* |
Nonsense |
9/106 |
- |
1 |
19-38937348-A-T |
c.740A>T |
p.E247V |
Missense |
9/106 |
- |
1 |
19-38937349-G-C |
c.741G>C |
p.E247D |
Missense |
9/106 |
- |
1 |
19-38937349-G-T |
c.741G>T |
p.E247D |
Missense |
9/106 |
- |
2 |
19-38937350-G-A |
c.742G>A |
p.G248R |
Missense |
9/106 |
- |
20 |
19-38937350-G-C |
c.742G>C |
p.G248R |
Missense |
9/106 |
- |
16 |
19-38937350-G-T |
c.742G>T |
p.G248W |
Missense |
9/106 |
- |
3 |
19-38937351-G-T |
c.743G>T |
p.G248V |
Missense |
9/106 |
- |
1 |
19-38937352-G-A |
c.744G>A |
p.G248= |
Synonymous |
9/106 |
- |
1 |
19-38937352-G-C |
c.744G>C |
p.G248= |
Synonymous |
9/106 |
- |
1 |
19-38937352-G-T |
c.744G>T |
p.G248= |
Synonymous |
9/106 |
- |
1 |
19-38937353-G-A |
c.745G>A |
p.G249R |
Missense |
9/106 |
- |
6 |
19-38937353-G-C |
c.745G>C |
p.G249R |
Missense |
9/106 |
- |
6 |
19-38937348-A-AG |
c.746dup |
p.A250Sfs*53 |
Frameshift |
9/106 |
- |
2 |
19-38937348-AG-A |
c.746del |
p.G249Efs*16 |
Frameshift |
9/106 |
- |
2 |
19-38937354-G-A |
c.746G>A |
p.G249E |
Missense |
9/106 |
- |
2 |
19-38937357-C-G |
c.749C>G |
p.A250G |
Missense |
9/106 |
- |
1 |
19-38937357-C-T |
c.749C>T |
p.A250V |
Missense |
9/106 |
- |
1 |
19-38937359-G-A |
c.751G>A |
p.V251M |
Missense |
9/106 |
- |
1 |
19-38937362-T-A |
c.754T>A |
p.C252S |
Missense |
9/106 |
- |
1 |
19-38937363-G-A |
c.755G>A |
p.C252Y |
Missense |
9/106 |
- |
1 |
19-38937364-C-T |
c.756C>T |
p.C252= |
Synonymous |
9/106 |
- |
1 |
19-38937365-A-G |
c.757A>G |
p.T253A |
Missense |
9/106 |
- |
1 |
19-38937366-C-A |
c.758C>A |
p.T253N |
Missense |
9/106 |
- |
2 |
19-38937366-C-T |
c.758C>T |
p.T253I |
Missense |
9/106 |
- |
1 |
19-38937368-C-T |
c.760C>T |
p.H254Y |
Missense |
9/106 |
- |
1 |
19-38937371-G-T |
c.763G>T |
p.A255S |
Missense |
9/106 |
- |
2 |
19-38937373-C-A |
c.765C>A |
p.A255= |
Synonymous |
9/106 |
- |
1 |
19-38937374-C-A |
c.766C>A |
p.R256S |
Missense |
9/106 |
- |
2 |
19-38937374-C-T |
c.766C>T |
p.R256C |
Missense |
9/106 |
- |
2 |
19-38937375-G-A |
c.767G>A |
p.R256H |
Missense |
9/106 |
- |
2 |
19-38937375-GC-AA |
c.767_768delinsAA |
p.R256Q |
Missense |
9/106 |
- |
1 |
19-38937378-C-T |
c.770C>T |
p.S257F |
Missense |
9/106 |
- |
1 |
19-38937379-C-A |
c.771C>A |
p.S257= |
Synonymous |
9/106 |
- |
1 |
19-38937379-C-G |
c.771C>G |
p.S257= |
Synonymous |
9/106 |
- |
1 |
19-38937379-C-T |
c.771C>T |
p.S257= |
Synonymous |
9/106 |
- |
4 |
19-38937381-T-C |
c.773T>C |
p.L258P |
Missense |
9/106 |
- |
1 |
19-38937382-C-T |
c.774C>T |
p.L258= |
Synonymous |
9/106 |
- |
2 |
19-38937384-G-A |
c.776G>A |
p.W259* |
Nonsense |
9/106 |
- |
2 |
19-38937385-G-C |
c.777G>C |
p.W259C |
Missense |
9/106 |
- |
1 |
19-38937386-AG-CA |
c.778_779delinsCA |
p.R260Q |
Missense |
9/106 |
- |
1 |
19-38937386-A-C |
c.778A>C |
p.R260= |
Synonymous |
9/106 |
- |
1 |
19-38937388-G-A |
c.780G>A |
p.R260= |
Synonymous |
9/106 |
- |
1 |
19-38937388-G-C |
c.780G>C |
p.R260S |
Missense |
9/106 |
- |
1 |
19-38937388-G-T |
c.780G>T |
p.R260S |
Missense |
9/106 |
- |
1 |
19-38937391-G-A |
c.783G>A |
p.L261= |
Synonymous |
9/106 |
- |
2 |
19-38937392-G-C |
c.784G>C |
p.E262Q |
Missense |
9/106 |
- |
1 |
19-38937392-G-T |
c.784G>T |
p.E262* |
Nonsense |
9/106 |
- |
1 |
19-38937394-G-A |
c.786G>A |
p.E262= |
Synonymous |
9/106 |
- |
1 |
19-38937395-C-A |
c.787C>A |
p.P263T |
Missense |
9/106 |
- |
3 |
19-38937395-C-T |
c.787C>T |
p.P263S |
Missense |
9/106 |
- |
1 |
19-38937396-C-A |
c.788C>A |
p.P263Q |
Missense |
9/106 |
- |
1 |
19-38937396-C-T |
c.788C>T |
p.P263L |
Missense |
9/106 |
- |
1 |
19-38937401-A-G |
c.793A>G |
p.R265G |
Missense |
9/106 |
- |
1 |
19-38937401-AG-CA |
c.793_794delinsCA |
p.R265Q |
Missense |
9/106 |
- |
1 |
19-38937401-AG-CT |
c.793_794inv |
p.R265L |
Missense |
9/106 |
- |
1 |
19-38937401-A-T |
c.793A>T |
p.R265* |
Nonsense |
9/106 |
- |
1 |
19-38937402-G-T |
c.794G>T |
p.R265I |
Missense |
9/106 |
- |
1 |
19-38937401-A-C |
c.793A>C |
p.R265= |
Synonymous |
9/106 |
- |
1 |
19-38937403-A-G |
c.795A>G |
p.R265= |
Synonymous |
9/106 |
- |
1 |
19-38937404-A-G |
c.796A>G |
p.I266V |
Missense |
9/106 |
- |
2 |
19-38937405-T-C |
c.797T>C |
p.I266T |
Missense |
9/106 |
- |
1 |
19-38937408-G-A |
c.800G>A |
p.S267N |
Missense |
9/106 |
- |
6 |
19-38937416-G-A |
c.800+8G>A |
- |
IntronicSNV |
- |
9/105 |
2 |
19-38937428-G-A |
c.800+20G>A |
- |
IntronicSNV |
- |
9/105 |
1 |
19-38937550-T-A |
c.800+142T>A |
- |
IntronicSNV |
- |
9/105 |
1 |
19-38937550-T-C |
c.800+142T>C |
- |
IntronicSNV |
- |
9/105 |
1 |
19-38937550-T-G |
c.800+142T>G |
- |
IntronicSNV |
- |
9/105 |
2 |
19-38938057-T-C |
c.800+649T>C |
- |
IntronicSNV |
- |
9/105 |
1 |
19-38938209-C-G |
c.801-786C>G |
- |
IntronicSNV |
- |
9/105 |
1 |
19-38938209-C-T |
c.801-786C>T |
- |
IntronicSNV |
- |
9/105 |
1 |
19-38938787-C-T |
c.801-208C>T |
- |
IntronicSNV |
- |
9/105 |
1 |
19-38938997-G-A |
c.803G>A |
p.W268* |
Nonsense |
10/106 |
- |
1 |
19-38938998-G-A |
c.804G>A |
p.W268* |
Nonsense |
10/106 |
- |
1 |
19-38938999-A-T |
c.805A>T |
p.S269C |
Missense |
10/106 |
- |
1 |
19-38939000-G-A |
c.806G>A |
p.S269N |
Missense |
10/106 |
- |
1 |
19-38939002-G-A |
c.808G>A |
p.G270R |
Missense |
10/106 |
- |
1 |
19-38939002-G-C |
c.808G>C |
p.G270R |
Missense |
10/106 |
- |
1 |
19-38939003-GG-AC |
c.809_810delinsAC |
p.G270D |
Missense |
10/106 |
- |
1 |
19-38939004-G-A |
c.810G>A |
p.G270= |
Synonymous |
10/106 |
- |
1 |
19-38939005-A-G |
c.811A>G |
p.S271G |
Missense |
10/106 |
- |
1 |
19-38939006-G-A |
c.812G>A |
p.S271N |
Missense |
10/106 |
- |
2 |
19-38939006-GC-G |
c.814del |
p.H272Tfs*19 |
Frameshift |
10/106 |
- |
1 |
19-38939008-C-A |
c.814C>A |
p.H272N |
Missense |
10/106 |
- |
4 |
19-38939008-C-T |
c.814C>T |
p.H272Y |
Missense |
10/106 |
- |
1 |
19-38939011-C-T |
c.817C>T |
p.L273= |
Synonymous |
10/106 |
- |
1 |
19-38939012-T-C |
c.818T>C |
p.L273P |
Missense |
10/106 |
- |
1 |
19-38939013-G-A |
c.819G>A |
p.L273= |
Synonymous |
10/106 |
- |
1 |
19-38939014-C-G |
c.820C>G |
p.R274G |
Missense |
10/106 |
- |
1 |
19-38939014-C-T |
c.820C>T |
p.R274C |
Missense |
10/106 |
- |
2 |
19-38939015-G-A |
c.821G>A |
p.R274H |
Missense |
10/106 |
- |
8 |
19-38939015-G-C |
c.821G>C |
p.R274P |
Missense |
10/106 |
- |
1 |
19-38939015-GC-AA |
c.821_822delinsAA |
p.R274Q |
Missense |
10/106 |
- |
2 |
19-38939015-G-T |
c.821G>T |
p.R274L |
Missense |
10/106 |
- |
1 |
19-38939016-C-A |
c.822C>A |
p.R274= |
Synonymous |
10/106 |
- |
2 |
19-38939016-C-G |
c.822C>G |
p.R274= |
Synonymous |
10/106 |
- |
2 |
19-38939016-C-T |
c.822C>T |
p.R274= |
Synonymous |
10/106 |
- |
3 |
19-38939017-T-A |
c.823T>A |
p.W275R |
Missense |
10/106 |
- |
1 |
19-38939019-G-C |
c.825G>C |
p.W275C |
Missense |
10/106 |
- |
1 |
19-38939019-G-T |
c.825G>T |
p.W275C |
Missense |
10/106 |
- |
1 |
19-38939020-G-A |
c.826G>A |
p.G276S |
Missense |
10/106 |
- |
3 |
19-38939020-G-T |
c.826G>T |
p.G276C |
Missense |
10/106 |
- |
1 |
19-38939022-C-T |
c.828C>T |
p.G276= |
Synonymous |
10/106 |
- |
1 |
19-38939023-C-A |
c.829C>A |
p.Q277K |
Missense |
10/106 |
- |
1 |
19-38939023-C-G |
c.829C>G |
p.Q277E |
Missense |
10/106 |
- |
1 |
19-38939023-C-T |
c.829C>T |
p.Q277* |
Nonsense |
10/106 |
- |
3 |
19-38939025-GC-G |
c.833del |
p.P278Hfs*13 |
Frameshift |
10/106 |
- |
1 |
19-38939029-C-T |
c.835C>T |
p.L279F |
Missense |
10/106 |
- |
1 |
19-38939030-T-C |
c.836T>C |
p.L279P |
Missense |
10/106 |
- |
1 |
19-38939031-C-T |
c.837C>T |
p.L279= |
Synonymous |
10/106 |
- |
2 |
19-38939032-CGA-AGC |
c.838_840delinsAGC |
p.R280S |
Missense |
10/106 |
- |
1 |
19-38939032-C-T |
c.838C>T |
p.R280* |
Nonsense |
10/106 |
- |
5 |
19-38939033-CG-C |
c.839del |
p.R280Qfs*11 |
Frameshift |
10/106 |
- |
1 |
19-38939033-G-A |
c.839G>A |
p.R280Q |
Missense |
10/106 |
- |
2 |
19-38939035-G-C |
c.841G>C |
p.V281L |
Missense |
10/106 |
- |
1 |
19-38939035-G-GT |
c.842dup |
p.R282Pfs*21 |
Frameshift |
10/106 |
- |
1 |
19-38939037-C-A |
c.843C>A |
p.V281= |
Synonymous |
10/106 |
- |
2 |
19-38939037-C-G |
c.843C>G |
p.V281= |
Synonymous |
10/106 |
- |
2 |
19-38939037-C-T |
c.843C>T |
p.V281= |
Synonymous |
10/106 |
- |
3 |
19-38939038-CG-AA |
c.844_845delinsAA |
p.R282K |
Missense |
10/106 |
- |
1 |
19-38939038-C-T |
c.844C>T |
p.R282W |
Missense |
10/106 |
- |
8 |
19-38939039-G-A |
c.845G>A |
p.R282Q |
Missense |
10/106 |
- |
5 |
19-38939040-G-A |
c.846G>A |
p.R282= |
Synonymous |
10/106 |
- |
1 |
19-38939041-C-T |
c.847C>T |
p.H283Y |
Missense |
10/106 |
- |
1 |
19-38939042-A-G |
c.848A>G |
p.H283R |
Missense |
10/106 |
- |
3 |
19-38939044-G-A |
c.850G>A |
p.V284I |
Missense |
10/106 |
- |
1 |
19-38939046-C-A |
c.852C>A |
p.V284= |
Synonymous |
10/106 |
- |
1 |
19-38939048-C-G |
c.854C>G |
p.T285S |
Missense |
10/106 |
- |
1 |
19-38939048-C-T |
c.854C>T |
p.T285I |
Missense |
10/106 |
- |
1 |
19-38939049-T-A |
c.855T>A |
p.T285= |
Synonymous |
10/106 |
- |
2 |
19-38939049-T-C |
c.855T>C |
p.T285= |
Synonymous |
10/106 |
- |
2 |
19-38939049-T-G |
c.855T>G |
p.T285= |
Synonymous |
10/106 |
- |
2 |
19-38939050-A-G |
c.856A>G |
p.T286A |
Missense |
10/106 |
- |
1 |
19-38939051-C-A |
c.857C>A |
p.T286N |
Missense |
10/106 |
- |
5 |
19-38939052-C-A |
c.858C>A |
p.T286= |
Synonymous |
10/106 |
- |
1 |
19-38939052-C-G |
c.858C>G |
p.T286= |
Synonymous |
10/106 |
- |
1 |
19-38939052-C-T |
c.858C>T |
p.T286= |
Synonymous |
10/106 |
- |
1 |
19-38939053-G-A |
c.859G>A |
p.G287R |
Missense |
10/106 |
- |
5 |
19-38939053-G-C |
c.859G>C |
p.G287R |
Missense |
10/106 |
- |
5 |
19-38939053-G-T |
c.859G>T |
p.G287W |
Missense |
10/106 |
- |
3 |
19-38939055-G-A |
c.861G>A |
p.G287= |
Synonymous |
10/106 |
- |
1 |
19-38939055-G-C |
c.861G>C |
p.G287= |
Synonymous |
10/106 |
- |
1 |
19-38939055-G-T |
c.861G>T |
p.G287= |
Synonymous |
10/106 |
- |
1 |
19-38939056-C-G |
c.862C>G |
p.Q288E |
Missense |
10/106 |
- |
1 |
19-38939056-GCA-G |
c.862_863del |
p.Q288Vfs*14 |
Frameshift |
10/106 |
- |
1 |
19-38939060-A-G |
c.866A>G |
p.Y289C |
Missense |
10/106 |
- |
1 |
19-38939065-G-A |
c.871G>A |
p.A291T |
Missense |
10/106 |
- |
2 |
19-38939065-G-C |
c.871G>C |
p.A291P |
Missense |
10/106 |
- |
1 |
19-38939066-C-T |
c.872C>T |
p.A291V |
Missense |
10/106 |
- |
3 |
19-38939067-G-A |
c.873G>A |
p.A291= |
Synonymous |
10/106 |
- |
2 |
19-38939067-G-T |
c.873G>T |
p.A291= |
Synonymous |
10/106 |
- |
1 |
19-38939069-T-A |
c.875T>A |
p.L292H |
Missense |
10/106 |
- |
1 |
19-38939069-T-G |
c.875T>G |
p.L292R |
Missense |
10/106 |
- |
1 |
19-38939070-C-A |
c.876C>A |
p.L292= |
Synonymous |
10/106 |
- |
2 |
19-38939070-C-G |
c.876C>G |
p.L292= |
Synonymous |
10/106 |
- |
2 |
19-38939070-C-T |
c.876C>T |
p.L292= |
Synonymous |
10/106 |
- |
2 |
19-38939072-C-A |
c.878C>A |
p.T293N |
Missense |
10/106 |
- |
2 |
19-38939072-C-T |
c.878C>T |
p.T293I |
Missense |
10/106 |
- |
7 |
19-38939073-C-A |
c.879C>A |
p.T293= |
Synonymous |
10/106 |
- |
2 |
19-38939073-C-G |
c.879C>G |
p.T293= |
Synonymous |
10/106 |
- |
2 |
19-38939073-C-T |
c.879C>T |
p.T293= |
Synonymous |
10/106 |
- |
3 |
19-38939074-G-A |
c.880G>A |
p.E294K |
Missense |
10/106 |
- |
3 |
19-38939074-G-T |
c.880G>T |
p.E294* |
Nonsense |
10/106 |
- |
1 |
19-38939075-A-T |
c.881A>T |
p.E294V |
Missense |
10/106 |
- |
1 |
19-38939076-G-A |
c.882G>A |
p.E294= |
Synonymous |
10/106 |
- |
3 |
19-38939076-G-C |
c.882G>C |
p.E294D |
Missense |
10/106 |
- |
2 |
19-38939076-G-T |
c.882G>T |
p.E294D |
Missense |
10/106 |
- |
2 |
19-38939079-C-T |
c.885C>T |
p.D295= |
Synonymous |
10/106 |
- |
1 |
19-38939083-G-C |
c.889G>C |
p.G297R |
Missense |
10/106 |
- |
1 |
19-38939084-G-A |
c.890G>A |
p.G297D |
Missense |
10/106 |
- |
5 |
19-38939085-C-A |
c.891C>A |
p.G297= |
Synonymous |
10/106 |
- |
3 |
19-38939085-C-G |
c.891C>G |
p.G297= |
Synonymous |
10/106 |
- |
3 |
19-38939085-C-T |
c.891C>T |
p.G297= |
Synonymous |
10/106 |
- |
3 |
19-38939087-T-C |
c.893T>C |
p.L298P |
Missense |
10/106 |
- |
1 |
19-38939089-G-C |
c.895G>C |
p.V299L |
Missense |
10/106 |
- |
2 |
19-38939089-G-T |
c.895G>T |
p.V299L |
Missense |
10/106 |
- |
2 |
19-38939089-GTG-ATC |
c.895_897delinsATC |
p.V299I |
Missense |
10/106 |
- |
1 |
19-38939090-T-C |
c.896T>C |
p.V299A |
Missense |
10/106 |
- |
3 |
19-38939091-G-A |
c.897G>A |
p.V299= |
Synonymous |
10/106 |
- |
2 |
19-38939091-G-C |
c.897G>C |
p.V299= |
Synonymous |
10/106 |
- |
5 |
19-38939091-G-T |
c.897G>T |
p.V299= |
Synonymous |
10/106 |
- |
2 |
19-38939095-G-A |
c.901G>A |
p.V301I |
Missense |
10/106 |
- |
2 |
19-38939095-G-C |
c.901G>C |
p.V301L |
Missense |
10/106 |
- |
1 |
19-38939097-T-A |
c.903T>A |
p.V301= |
Synonymous |
10/106 |
- |
1 |
19-38939097-T-C |
c.903T>C |
p.V301= |
Synonymous |
10/106 |
- |
2 |
19-38939097-T-G |
c.903T>G |
p.V301= |
Synonymous |
10/106 |
- |
1 |
19-38939098-G-A |
c.904G>A |
p.D302N |
Missense |
10/106 |
- |
1 |
19-38939100-C-T |
c.906C>T |
p.D302= |
Synonymous |
10/106 |
- |
6 |
19-38939101-G-A |
c.907G>A |
p.A303T |
Missense |
10/106 |
- |
4 |
19-38939102-C-A |
c.908C>A |
p.A303D |
Missense |
10/106 |
- |
1 |
19-38939103-C-A |
c.909C>A |
p.A303= |
Synonymous |
10/106 |
- |
1 |
19-38939106-C-T |
c.912C>T |
p.S304= |
Synonymous |
10/106 |
- |
1 |
19-38939110-G-A |
c.916G>A |
p.A306T |
Missense |
10/106 |
- |
1 |
19-38939110-G-T |
c.916G>T |
p.A306S |
Missense |
10/106 |
- |
3 |
19-38939116-A-G |
c.922A>G |
p.T308A |
Missense |
10/106 |
- |
1 |
19-38939118-C-A |
c.924C>A |
p.T308= |
Synonymous |
10/106 |
- |
2 |
19-38939118-C-G |
c.924C>G |
p.T308= |
Synonymous |
10/106 |
- |
1 |
19-38939118-C-T |
c.924C>T |
p.T308= |
Synonymous |
10/106 |
- |
1 |
19-38939119-A-G |
c.925A>G |
p.K309E |
Missense |
10/106 |
- |
6 |
19-38939122-G-A |
c.928G>A |
p.A310T |
Missense |
10/106 |
- |
3 |
19-38939122-G-T |
c.928G>T |
p.A310S |
Missense |
10/106 |
- |
4 |
19-38939125-AC-TG |
c.931_932delinsTG |
p.T311C |
Missense |
10/106 |
- |
1 |
19-38939125-A-G |
c.931A>G |
p.T311A |
Missense |
10/106 |
- |
1 |
19-38939126-CC-AG |
c.932_933delinsAG |
p.T311K |
Missense |
10/106 |
- |
2 |
19-38939126-CC-GG |
c.932_933inv |
p.T311R |
Missense |
10/106 |
- |
1 |
19-38939127-C-A |
c.933C>A |
p.T311= |
Synonymous |
10/106 |
- |
1 |
19-38939127-C-G |
c.933C>G |
p.T311= |
Synonymous |
10/106 |
- |
1 |
19-38939127-C-T |
c.933C>T |
p.T311= |
Synonymous |
10/106 |
- |
1 |
19-38939129-C-T |
c.935C>T |
p.S312F |
Missense |
10/106 |
- |
5 |
19-38939132-TC-AA |
c.938_939delinsAA |
p.F313* |
Nonsense |
10/106 |
- |
1 |
19-38939133-C-T |
c.939C>T |
p.F313= |
Synonymous |
10/106 |
- |
1 |
19-38939138-TC-AA |
c.944_945delinsAA |
p.F315* |
Nonsense |
10/106 |
- |
1 |
19-38939138-TTCCG-T |
c.944_947del |
p.F315Sfs*74 |
Frameshift |
10/106 |
- |
1 |
19-38939140-CGC-ATG |
c.946_948delinsATG |
p.R316M |
Missense |
10/106 |
- |
1 |
19-38939140-CGC-TGA |
c.946_948delinsTGA |
p.R316* |
Nonsense |
10/106 |
- |
1 |
19-38939141-G-A |
c.947G>A |
p.R316H |
Missense |
10/106 |
- |
11 |
19-38939141-G-C |
c.947G>C |
p.R316P |
Missense |
10/106 |
- |
1 |
19-38939141-GC-AA |
c.947_948delinsAA |
p.R316Q |
Missense |
10/106 |
- |
1 |
19-38939141-G-T |
c.947G>T |
p.R316L |
Missense |
10/106 |
- |
3 |
19-38939143-A-G |
c.949A>G |
p.I317V |
Missense |
10/106 |
- |
1 |
19-38939144-T-C |
c.950T>C |
p.I317T |
Missense |
10/106 |
- |
1 |
19-38939146-TC-AA |
c.952_953delinsAA |
p.S318N |
Missense |
10/106 |
- |
1 |
19-38939147-C-T |
c.953C>T |
p.S318F |
Missense |
10/106 |
- |
1 |
19-38939148-C-A |
c.954C>A |
p.S318= |
Synonymous |
10/106 |
- |
1 |
19-38939148-C-G |
c.954C>G |
p.S318= |
Synonymous |
10/106 |
- |
1 |
19-38939148-C-T |
c.954C>T |
p.S318= |
Synonymous |
10/106 |
- |
1 |
19-38939149-AA-CT |
c.955_956delinsCT |
p.K319L |
Missense |
10/106 |
- |
1 |
19-38939150-A-C |
c.956A>C |
p.K319T |
Missense |
10/106 |
- |
1 |
19-38939152-GTCAGTGGGGTTTGTGGCGCCCTCCC-G |
c.957+5_957+29del |
- |
IntronicDeletion |
- |
10/105 |
3 |
19-38939289-G-A |
c.958G>A |
p.E320K |
Missense |
11/106 |
- |
2 |
19-38939289-G-T |
c.958G>T |
p.E320* |
Nonsense |
11/106 |
- |
1 |
19-38939290-A-T |
c.959A>T |
p.E320V |
Missense |
11/106 |
- |
1 |
19-38939294-G-A |
c.963G>A |
p.K321= |
Synonymous |
11/106 |
- |
1 |
19-38939298-G-T |
c.967G>T |
p.D323Y |
Missense |
11/106 |
- |
1 |
19-38939299-A-C |
c.968A>C |
p.D323A |
Missense |
11/106 |
- |
1 |
19-38939301-G-T |
c.970G>T |
p.V324L |
Missense |
11/106 |
- |
1 |
19-38939302-T-TC |
c.971_972insC |
p.A325Gfs*13 |
Frameshift |
11/106 |
- |
1 |
19-38939304-GC-AA |
c.973_974delinsAA |
p.A325N |
Missense |
11/106 |
- |
1 |
19-38939304-G-T |
c.973G>T |
p.A325S |
Missense |
11/106 |
- |
1 |
19-38939296-TGGATGTGGCCCCCAAGCG-T |
c.974_991del |
p.A325_V330del |
InFrameDeletion |
11/106 |
- |
1 |
19-38939305-C-A |
c.974C>A |
p.A325D |
Missense |
11/106 |
- |
1 |
19-38939306-C-G |
c.975C>G |
p.A325= |
Synonymous |
11/106 |
- |
1 |
19-38939307-C-T |
c.976C>T |
p.P326S |
Missense |
11/106 |
- |
1 |
19-38939312-G-A |
c.981G>A |
p.K327= |
Synonymous |
11/106 |
- |
1 |
19-38939311-AGC-A |
c.982_983del |
p.R328Gfs*9 |
Frameshift |
11/106 |
- |
1 |
19-38939313-C-A |
c.982C>A |
p.R328= |
Synonymous |
11/106 |
- |
2 |
19-38939313-C-T |
c.982C>T |
p.R328W |
Missense |
11/106 |
- |
12 |
19-38939314-G-A |
c.983G>A |
p.R328Q |
Missense |
11/106 |
- |
2 |
19-38939315-G-A |
c.984G>A |
p.R328= |
Synonymous |
11/106 |
- |
1 |
19-38939317-A-G |
c.986A>G |
p.D329G |
Missense |
11/106 |
- |
2 |
19-38939319-G-A |
c.988G>A |
p.V330M |
Missense |
11/106 |
- |
1 |
19-38939321-G-A |
c.990G>A |
p.V330= |
Synonymous |
11/106 |
- |
1 |
19-38939321-G-C |
c.990G>C |
p.V330= |
Synonymous |
11/106 |
- |
1 |
19-38939321-G-T |
c.990G>T |
p.V330= |
Synonymous |
11/106 |
- |
1 |
19-38939322-G-A |
c.991G>A |
p.E331K |
Missense |
11/106 |
- |
4 |
19-38939322-G-T |
c.991G>T |
p.E331* |
Nonsense |
11/106 |
- |
1 |
19-38939325-G-T |
c.994G>T |
p.G332C |
Missense |
11/106 |
- |
1 |
19-38939326-G-A |
c.995G>A |
p.G332D |
Missense |
11/106 |
- |
5 |
19-38939328-A-G |
c.997A>G |
p.M333V |
Missense |
11/106 |
- |
2 |
19-38939331-G-T |
c.1000G>T |
p.G334C |
Missense |
11/106 |
- |
1 |
19-38939332-G-T |
c.1001G>T |
p.G334V |
Missense |
11/106 |
- |
2 |
19-38939333-C-A |
c.1002C>A |
p.G334= |
Synonymous |
11/106 |
- |
2 |
19-38939333-C-G |
c.1002C>G |
p.G334= |
Synonymous |
11/106 |
- |
1 |
19-38939333-C-T |
c.1002C>T |
p.G334= |
Synonymous |
11/106 |
- |
2 |
19-38939334-C-T |
c.1003C>T |
p.P335S |
Missense |
11/106 |
- |
1 |
19-38939335-C-T |
c.1004C>T |
p.P335L |
Missense |
11/106 |
- |
1 |
19-38939337-C-T |
c.1006C>T |
p.P336S |
Missense |
11/106 |
- |
2 |
19-38939332-GC-G |
c.1007del |
p.P336Lfs*54 |
Frameshift |
11/106 |
- |
2 |
19-38939332-G-GC |
c.1007dup |
p.E337* |
Nonsense |
11/106 |
- |
2 |
19-38939338-C-G |
c.1007C>G |
p.P336R |
Missense |
11/106 |
- |
1 |
19-38939339-T-A |
c.1008T>A |
p.P336= |
Synonymous |
11/106 |
- |
1 |
19-38939339-T-C |
c.1008T>C |
p.P336= |
Synonymous |
11/106 |
- |
1 |
19-38939339-T-G |
c.1008T>G |
p.P336= |
Synonymous |
11/106 |
- |
2 |
19-38939339-T-TG |
c.1009dup |
p.E337Gfs*168 |
Frameshift |
11/106 |
- |
1 |
19-38939340-G-A |
c.1009G>A |
p.E337K |
Missense |
11/106 |
- |
2 |
19-38939342-G-C |
c.1011G>C |
p.E337D |
Missense |
11/106 |
- |
2 |
19-38939342-G-T |
c.1011G>T |
p.E337D |
Missense |
11/106 |
- |
3 |
19-38939343-A-G |
c.1012A>G |
p.I338V |
Missense |
11/106 |
- |
1 |
19-38939343-A-T |
c.1012A>T |
p.I338F |
Missense |
11/106 |
- |
1 |
19-38939345-C-T |
c.1014C>T |
p.I338= |
Synonymous |
11/106 |
- |
1 |
19-38939352-G-A |
c.1021G>A |
p.G341R |
Missense |
11/106 |
- |
33 |
19-38939352-G-C |
c.1021G>C |
p.G341R |
Missense |
11/106 |
- |
16 |
19-38939353-G-A |
c.1022G>A |
p.G341E |
Missense |
11/106 |
- |
1 |
19-38939354-G-A |
c.1023G>A |
p.G341= |
Synonymous |
11/106 |
- |
1 |
19-38939354-G-C |
c.1023G>C |
p.G341= |
Synonymous |
11/106 |
- |
1 |
19-38939354-G-T |
c.1023G>T |
p.G341= |
Synonymous |
11/106 |
- |
1 |
19-38939355-G-A |
c.1024G>A |
p.E342K |
Missense |
11/106 |
- |
5 |
19-38939358-TC-AG |
c.1027_1028delinsAG |
p.S343R |
Missense |
11/106 |
- |
1 |
19-38939359-C-A |
c.1028C>A |
p.S343* |
Nonsense |
11/106 |
- |
1 |
19-38939361-C-T |
c.1030C>T |
p.L344= |
Synonymous |
11/106 |
- |
1 |
19-38939363-G-A |
c.1032G>A |
p.L344= |
Synonymous |
11/106 |
- |
1 |
19-38939366-C-A |
c.1035C>A |
p.C345* |
Nonsense |
11/106 |
- |
1 |
19-38939367-T-C |
c.1036T>C |
p.F346L |
Missense |
11/106 |
- |
1 |
19-38939368-T-G |
c.1037T>G |
p.F346C |
Missense |
11/106 |
- |
1 |
19-38939370-G-A |
c.1039G>A |
p.V347M |
Missense |
11/106 |
- |
5 |
19-38939373-C-A |
c.1042C>A |
p.Q348K |
Missense |
11/106 |
- |
1 |
19-38939373-C-T |
c.1042C>T |
p.Q348* |
Nonsense |
11/106 |
- |
1 |
19-38939374-A-G |
c.1043A>G |
p.Q348R |
Missense |
11/106 |
- |
1 |
19-38939375-G-A |
c.1044G>A |
p.Q348= |
Synonymous |
11/106 |
- |
1 |
19-38939376-C-T |
c.1045C>T |
p.H349Y |
Missense |
11/106 |
- |
1 |
19-38939379-G-A |
c.1048G>A |
p.V350M |
Missense |
11/106 |
- |
1 |
19-38939379-G-C |
c.1048G>C |
p.V350L |
Missense |
11/106 |
- |
1 |
19-38939379-G-T |
c.1048G>T |
p.V350L |
Missense |
11/106 |
- |
1 |
19-38939380-T-G |
c.1049T>G |
p.V350G |
Missense |
11/106 |
- |
1 |
19-38939382-G-A |
c.1051G>A |
p.A351T |
Missense |
11/106 |
- |
4 |
19-38939382-G-C |
c.1051G>C |
p.A351P |
Missense |
11/106 |
- |
1 |
19-38939382-G-T |
c.1051G>T |
p.A351S |
Missense |
11/106 |
- |
2 |
19-38939383-C-T |
c.1052C>T |
p.A351V |
Missense |
11/106 |
- |
1 |
19-38939384-C-G |
c.1053C>G |
p.A351= |
Synonymous |
11/106 |
- |
2 |
19-38939385-T-G |
c.1054T>G |
p.S352A |
Missense |
11/106 |
- |
4 |
19-38939386-C-T |
c.1055C>T |
p.S352L |
Missense |
11/106 |
- |
1 |
19-38939390-A-C |
c.1059A>C |
p.G353= |
Synonymous |
11/106 |
- |
1 |
19-38939390-A-G |
c.1059A>G |
p.G353= |
Synonymous |
11/106 |
- |
1 |
19-38939390-A-T |
c.1059A>T |
p.G353= |
Synonymous |
11/106 |
- |
1 |
19-38939391-C-G |
c.1060C>G |
p.L354V |
Missense |
11/106 |
- |
1 |
19-38939392-T-G |
c.1061T>G |
p.L354R |
Missense |
11/106 |
- |
1 |
19-38939391-C-T |
c.1060C>T |
p.L354= |
Synonymous |
11/106 |
- |
1 |
19-38939393-G-A |
c.1062G>A |
p.L354= |
Synonymous |
11/106 |
- |
1 |
19-38939393-G-C |
c.1062G>C |
p.L354= |
Synonymous |
11/106 |
- |
2 |
19-38939393-G-T |
c.1062G>T |
p.L354= |
Synonymous |
11/106 |
- |
1 |
19-38939395-G-A |
c.1064G>A |
p.W355* |
Nonsense |
11/106 |
- |
2 |
19-38939398-T-A |
c.1067T>A |
p.L356H |
Missense |
11/106 |
- |
1 |
19-38939399-C-T |
c.1068C>T |
p.L356= |
Synonymous |
11/106 |
- |
1 |
19-38939401-C-A |
c.1070C>A |
p.T357N |
Missense |
11/106 |
- |
2 |
19-38939401-CC-TG |
c.1070_1071delinsTG |
p.T357M |
Missense |
11/106 |
- |
1 |
19-38939401-C-G |
c.1070C>G |
p.T357S |
Missense |
11/106 |
- |
1 |
19-38939401-C-T |
c.1070C>T |
p.T357I |
Missense |
11/106 |
- |
2 |
19-38939403-T-A |
c.1072T>A |
p.Y358N |
Missense |
11/106 |
- |
2 |
19-38939404-A-G |
c.1073A>G |
p.Y358C |
Missense |
11/106 |
- |
3 |
19-38939405-T-C |
c.1074T>C |
p.Y358= |
Synonymous |
11/106 |
- |
1 |
19-38939406-G-T |
c.1075G>T |
p.A359S |
Missense |
11/106 |
- |
1 |
19-38939408-T-A |
c.1077T>A |
p.A359= |
Synonymous |
11/106 |
- |
20 |
19-38939408-T-C |
c.1077T>C |
p.A359= |
Synonymous |
11/106 |
- |
28 |
19-38939408-T-G |
c.1077T>G |
p.A359= |
Synonymous |
11/106 |
- |
25 |
19-38939412-C-T |
c.1081C>T |
p.P361S |
Missense |
11/106 |
- |
1 |
19-38939411-TC-T |
c.1082del |
p.P361Qfs*29 |
Frameshift |
11/106 |
- |
1 |
19-38939413-CA-AT |
c.1082_1083delinsAT |
p.P361H |
Missense |
11/106 |
- |
1 |
19-38939415-G-T |
c.1084G>T |
p.D362Y |
Missense |
11/106 |
- |
1 |
19-38939416-A-G |
c.1085A>G |
p.D362G |
Missense |
11/106 |
- |
1 |
19-38939418-C-T |
c.1087C>T |
p.P363S |
Missense |
11/106 |
- |
1 |
19-38939420-C-A |
c.1089C>A |
p.P363= |
Synonymous |
11/106 |
- |
1 |
19-38939420-C-T |
c.1089C>T |
p.P363= |
Synonymous |
11/106 |
- |
2 |
19-38939422-A-G |
c.1091A>G |
p.K364R |
Missense |
11/106 |
- |
1 |
19-38939423-G-A |
c.1092G>A |
p.K364= |
Synonymous |
11/106 |
- |
2 |
19-38939424-G-A |
c.1093G>A |
p.A365T |
Missense |
11/106 |
- |
2 |
19-38939425-C-T |
c.1094C>T |
p.A365V |
Missense |
11/106 |
- |
1 |
19-38939426-C-T |
c.1095C>T |
p.A365= |
Synonymous |
11/106 |
- |
1 |
19-38939429-G-A |
c.1098G>A |
p.L366= |
Synonymous |
11/106 |
- |
1 |
19-38939430-C-A |
c.1099C>A |
p.R367= |
Synonymous |
11/106 |
- |
1 |
19-38939430-CG-AT |
c.1099_1100delinsAT |
p.R367M |
Missense |
11/106 |
- |
1 |
19-38939430-C-T |
c.1099C>T |
p.R367W |
Missense |
11/106 |
- |
5 |
19-38939430-GC-G |
c.1099del |
p.R367Gfs*23 |
Frameshift |
11/106 |
- |
1 |
19-38939432-G-A |
c.1101G>A |
p.R367= |
Synonymous |
11/106 |
- |
2 |
19-38939432-G-C |
c.1101G>C |
p.R367= |
Synonymous |
11/106 |
- |
1 |
19-38939432-G-T |
c.1101G>T |
p.R367= |
Synonymous |
11/106 |
- |
1 |
19-38939431-G-A |
c.1100G>A |
p.R367Q |
Missense |
11/106 |
- |
11 |
19-38939431-G-T |
c.1100G>T |
p.R367L |
Missense |
11/106 |
- |
6 |
19-38939433-C-A |
c.1102C>A |
p.L368I |
Missense |
11/106 |
- |
1 |
19-38939433-C-G |
c.1102C>G |
p.L368V |
Missense |
11/106 |
- |
1 |
19-38939433-C-T |
c.1102C>T |
p.L368F |
Missense |
11/106 |
- |
1 |
19-38939435-C-T |
c.1104C>T |
p.L368= |
Synonymous |
11/106 |
- |
2 |
19-38939436-G-A |
c.1105G>A |
p.G369S |
Missense |
11/106 |
- |
1 |
19-38939436-G-C |
c.1105G>C |
p.G369R |
Missense |
11/106 |
- |
5 |
19-38939438-C-T |
c.1107C>T |
p.G369= |
Synonymous |
11/106 |
- |
1 |
19-38939439-G-A |
c.1108G>A |
p.V370M |
Missense |
11/106 |
- |
5 |
19-38939443-T-A |
c.1112T>A |
p.L371H |
Missense |
11/106 |
- |
1 |
19-38939446-A-T |
c.1115A>T |
p.K372M |
Missense |
11/106 |
- |
1 |
19-38939447-G-A |
c.1116G>A |
p.K372= |
Synonymous |
11/106 |
- |
1 |
19-38939453-G-A |
c.1122G>A |
p.K374= |
Synonymous |
11/106 |
- |
1 |
19-38939458-G-A |
c.1122+5G>A |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38939505-T-C |
c.1122+52T>C |
- |
IntronicSNV |
- |
11/105 |
8 |
19-38940082-C-T |
c.1122+629C>T |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38940209-C-T |
c.1122+756C>T |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38940229-C-T |
c.1122+776C>T |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38941599-C-T |
c.1123-805C>T |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38941614-C-A |
c.1123-790C>A |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38941644-A-G |
c.1123-760A>G |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38941644-A-T |
c.1123-760A>T |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38941645-C-T |
c.1123-759C>T |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38942248-G-A |
c.1123-156G>A |
- |
IntronicSNV |
- |
11/105 |
2 |
19-38942393-C-G |
c.1123-11C>G |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38942393-C-T |
c.1123-11C>T |
- |
IntronicSNV |
- |
11/105 |
1 |
19-38942406-C-A |
c.1125C>A |
p.A375= |
Synonymous |
12/106 |
- |
1 |
19-38942406-C-G |
c.1125C>G |
p.A375= |
Synonymous |
12/106 |
- |
1 |
19-38942406-C-T |
c.1125C>T |
p.A375= |
Synonymous |
12/106 |
- |
1 |
19-38942407-A-G |
c.1126A>G |
p.M376V |
Missense |
12/106 |
- |
1 |
19-38942413-C-T |
c.1132C>T |
p.H378Y |
Missense |
12/106 |
- |
1 |
19-38942416-C-T |
c.1135C>T |
p.Q379* |
Nonsense |
12/106 |
- |
1 |
19-38942419-G-C |
c.1138G>C |
p.E380Q |
Missense |
12/106 |
- |
1 |
19-38942422-G-T |
c.1141G>T |
p.G381C |
Missense |
12/106 |
- |
3 |
19-38942423-G-A |
c.1142G>A |
p.G381D |
Missense |
12/106 |
- |
5 |
19-38942423-G-T |
c.1142G>T |
p.G381V |
Missense |
12/106 |
- |
1 |
19-38942425-C-A |
c.1144C>A |
p.H382N |
Missense |
12/106 |
- |
5 |
19-38942429-T-C |
c.1148T>C |
p.M383T |
Missense |
12/106 |
- |
1 |
19-38942431-G-A |
c.1150G>A |
p.D384N |
Missense |
12/106 |
- |
2 |
19-38942431-G-T |
c.1150G>T |
p.D384Y |
Missense |
12/106 |
- |
1 |
19-38942433-C-T |
c.1152C>T |
p.D384= |
Synonymous |
12/106 |
- |
3 |
19-38942434-G-A |
c.1153G>A |
p.D385N |
Missense |
12/106 |
- |
2 |
19-38942436-C-T |
c.1155C>T |
p.D385= |
Synonymous |
12/106 |
- |
5 |
19-38942437-G-A |
c.1156G>A |
p.A386T |
Missense |
12/106 |
- |
3 |
19-38942444-C-T |
c.1163C>T |
p.S388L |
Missense |
12/106 |
- |
6 |
19-38942443-TCGCTGA-T |
c.1164_1169del |
p.L389_T390del |
InFrameDeletion |
12/106 |
- |
1 |
19-38942445-G-A |
c.1164G>A |
p.S388= |
Synonymous |
12/106 |
- |
3 |
19-38942445-G-C |
c.1164G>C |
p.S388= |
Synonymous |
12/106 |
- |
2 |
19-38942445-G-T |
c.1164G>T |
p.S388= |
Synonymous |
12/106 |
- |
3 |
19-38942446-C-A |
c.1165C>A |
p.L389M |
Missense |
12/106 |
- |
1 |
19-38942448-G-A |
c.1167G>A |
p.L389= |
Synonymous |
12/106 |
- |
1 |
19-38942449-A-G |
c.1168A>G |
p.T390A |
Missense |
12/106 |
- |
1 |
19-38942450-CC-TG |
c.1169_1170delinsTG |
p.T390M |
Missense |
12/106 |
- |
1 |
19-38942450-C-T |
c.1169C>T |
p.T390I |
Missense |
12/106 |
- |
1 |
19-38942451-C-T |
c.1170C>T |
p.T390= |
Synonymous |
12/106 |
- |
1 |
19-38942452-C-T |
c.1171C>T |
p.R391C |
Missense |
12/106 |
- |
2 |
19-38942453-G-A |
c.1172G>A |
p.R391H |
Missense |
12/106 |
- |
7 |
19-38942453-G-C |
c.1172G>C |
p.R391P |
Missense |
12/106 |
- |
1 |
19-38942456-G-A |
c.1175G>A |
p.C392Y |
Missense |
12/106 |
- |
1 |
19-38942461-C-A |
c.1180C>A |
p.Q394K |
Missense |
12/106 |
- |
1 |
19-38942464-G-A |
c.1183G>A |
p.E395K |
Missense |
12/106 |
- |
5 |
19-38942466-G-A |
c.1185G>A |
p.E395= |
Synonymous |
12/106 |
- |
1 |
19-38942467-G-A |
c.1186G>A |
p.E396K |
Missense |
12/106 |
- |
3 |
19-38942467-G-T |
c.1186G>T |
p.E396* |
Nonsense |
12/106 |
- |
4 |
19-38942468-A-C |
c.1187A>C |
p.E396A |
Missense |
12/106 |
- |
2 |
19-38942471-C-A |
c.1190C>A |
p.S397Y |
Missense |
12/106 |
- |
1 |
19-38942471-C-T |
c.1190C>T |
p.S397F |
Missense |
12/106 |
- |
1 |
19-38942476-G-A |
c.1195G>A |
p.A399T |
Missense |
12/106 |
- |
1 |
19-38942476-G-T |
c.1195G>T |
p.A399S |
Missense |
12/106 |
- |
1 |
19-38942477-C-T |
c.1196C>T |
p.A399V |
Missense |
12/106 |
- |
2 |
19-38942478-C-A |
c.1197C>A |
p.A399= |
Synonymous |
12/106 |
- |
1 |
19-38942478-C-T |
c.1197C>T |
p.A399= |
Synonymous |
12/106 |
- |
1 |
19-38942479-G-A |
c.1198G>A |
p.A400T |
Missense |
12/106 |
- |
2 |
19-38942481-C-A |
c.1200C>A |
p.A400= |
Synonymous |
12/106 |
- |
1 |
19-38942482-C-A |
c.1201C>A |
p.R401S |
Missense |
12/106 |
- |
3 |
19-38942482-C-G |
c.1201C>G |
p.R401G |
Missense |
12/106 |
- |
2 |
19-38942482-C-T |
c.1201C>T |
p.R401C |
Missense |
12/106 |
- |
19 |
19-38942483-G-A |
c.1202G>A |
p.R401H |
Missense |
12/106 |
- |
13 |
19-38942483-G-C |
c.1202G>C |
p.R401P |
Missense |
12/106 |
- |
1 |
19-38942483-G-T |
c.1202G>T |
p.R401L |
Missense |
12/106 |
- |
1 |
19-38942486-T-C |
c.1205T>C |
p.M402T |
Missense |
12/106 |
- |
8 |
19-38942490-C-G |
c.1209C>G |
p.I403M |
Missense |
12/106 |
- |
18 |
19-38942490-C-T |
c.1209C>T |
p.I403= |
Synonymous |
12/106 |
- |
1 |
19-38942492-A-AC |
c.1212dup |
p.S405Qfs*100 |
Frameshift |
12/106 |
- |
1 |
19-38942494-AG-CT |
c.1213_1214inv |
p.S405L |
Missense |
12/106 |
- |
1 |
19-38942495-G-A |
c.1214G>A |
p.S405N |
Missense |
12/106 |
- |
2 |
19-38942494-A-C |
c.1213A>C |
p.S405R |
Missense |
12/106 |
- |
1 |
19-38942496-C-A |
c.1215C>A |
p.S405R |
Missense |
12/106 |
- |
1 |
19-38942496-C-G |
c.1215C>G |
p.S405R |
Missense |
12/106 |
- |
1 |
19-38942498-C-T |
c.1217C>T |
p.T406I |
Missense |
12/106 |
- |
1 |
19-38942497-AC-A |
c.1218del |
p.N407Mfs*36 |
Frameshift |
12/106 |
- |
1 |
19-38942499-C-T |
c.1218C>T |
p.T406= |
Synonymous |
12/106 |
- |
1 |
19-38942502-T-C |
c.1221T>C |
p.N407= |
Synonymous |
12/106 |
- |
1 |
19-38942506-C-T |
c.1225C>T |
p.L409= |
Synonymous |
12/106 |
- |
4 |
19-38942508-A-C |
c.1227A>C |
p.L409= |
Synonymous |
12/106 |
- |
2 |
19-38942508-A-G |
c.1227A>G |
p.L409= |
Synonymous |
12/106 |
- |
2 |
19-38942508-A-T |
c.1227A>T |
p.L409= |
Synonymous |
12/106 |
- |
2 |
19-38942511-C-A |
c.1230C>A |
p.Y410* |
Nonsense |
12/106 |
- |
2 |
19-38942511-C-G |
c.1230C>G |
p.Y410* |
Nonsense |
12/106 |
- |
2 |
19-38942511-C-T |
c.1230C>T |
p.Y410= |
Synonymous |
12/106 |
- |
1 |
19-38942515-C-T |
c.1234C>T |
p.Q412* |
Nonsense |
12/106 |
- |
1 |
19-38942516-A-G |
c.1235A>G |
p.Q412R |
Missense |
12/106 |
- |
1 |
19-38942522-T-TC |
c.1242dup |
p.K415Qfs*90 |
SpliceDonorInsertion |
12/106 |
- |
1 |
19-38942523-C-A |
c.1242C>A |
p.I414= |
Synonymous |
12/106 |
- |
2 |
19-38942523-C-CG |
c.1242_1243insG |
p.K415Efs*90 |
SpliceDonorInsertion |
12/106 |
- |
1 |
19-38942523-C-CT |
c.1242_1243insT |
p.K415* |
SpliceDonorInsertion |
12/106 |
- |
1 |
19-38942523-C-T |
c.1242C>T |
p.I414= |
Synonymous |
12/106 |
- |
2 |
19-38942525-A-G |
c.1244A>G |
p.K415R |
Missense |
12/106 |
- |
1 |
19-38942526-G-C |
c.1244+1G>C |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38942714-G-A |
c.1244+189G>A |
- |
IntronicSNV |
- |
12/105 |
4 |
19-38942729-G-A |
c.1244+204G>A |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38942766-C-A |
c.1244+241C>A |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38942814-T-C |
c.1244+289T>C |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38942875-G-A |
c.1244+350G>A |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38942875-G-C |
c.1244+350G>C |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38943241-C-T |
c.1245-218C>T |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38943341-G-C |
c.1245-118G>C |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38943430-C-T |
c.1245-29C>T |
- |
IntronicSNV |
- |
12/105 |
1 |
19-38943460-AGC-TGA |
c.1246_1248delinsTGA |
p.S416* |
Nonsense |
13/106 |
- |
1 |
19-38943460-A-T |
c.1246A>T |
p.S416C |
Missense |
13/106 |
- |
1 |
19-38943461-G-T |
c.1247G>T |
p.S416I |
Missense |
13/106 |
- |
2 |
19-38943464-T-C |
c.1250T>C |
p.L417P |
Missense |
13/106 |
- |
4 |
19-38943468-C-A |
c.1254C>A |
p.D418E |
Missense |
13/106 |
- |
1 |
19-38943468-C-G |
c.1254C>G |
p.D418E |
Missense |
13/106 |
- |
1 |
19-38943469-A-G |
c.1255A>G |
p.S419G |
Missense |
13/106 |
- |
1 |
19-38943471-C-T |
c.1257C>T |
p.S419= |
Synonymous |
13/106 |
- |
1 |
19-38943475-A-G |
c.1261A>G |
p.S421G |
Missense |
13/106 |
- |
1 |
19-38943476-G-A |
c.1262G>A |
p.S421N |
Missense |
13/106 |
- |
2 |
19-38943477-C-T |
c.1263C>T |
p.S421= |
Synonymous |
13/106 |
- |
2 |
19-38943478-G-A |
c.1264G>A |
p.G422R |
Missense |
13/106 |
- |
1 |
19-38943478-G-C |
c.1264G>C |
p.G422R |
Missense |
13/106 |
- |
1 |
19-38943479-G-A |
c.1265G>A |
p.G422E |
Missense |
13/106 |
- |
1 |
19-38943479-GG-AC |
c.1265_1266delinsAC |
p.G422D |
Missense |
13/106 |
- |
1 |
19-38943479-G-T |
c.1265G>T |
p.G422V |
Missense |
13/106 |
- |
1 |
19-38943480-G-A |
c.1266G>A |
p.G422= |
Synonymous |
13/106 |
- |
2 |
19-38943487-C-A |
c.1273C>A |
p.R425= |
Synonymous |
13/106 |
- |
1 |
19-38943487-CG-TA |
c.1273_1274delinsTA |
p.R425* |
Nonsense |
13/106 |
- |
2 |
19-38943487-C-T |
c.1273C>T |
p.R425W |
Missense |
13/106 |
- |
1 |
19-38943489-G-A |
c.1275G>A |
p.R425= |
Synonymous |
13/106 |
- |
1 |
19-38943489-G-C |
c.1275G>C |
p.R425= |
Synonymous |
13/106 |
- |
1 |
19-38943489-G-T |
c.1275G>T |
p.R425= |
Synonymous |
13/106 |
- |
1 |
19-38943488-G-A |
c.1274G>A |
p.R425Q |
Missense |
13/106 |
- |
6 |
19-38943490-G-A |
c.1276G>A |
p.G426S |
Missense |
13/106 |
- |
2 |
19-38943491-G-A |
c.1277G>A |
p.G426D |
Missense |
13/106 |
- |
1 |
19-38943491-G-T |
c.1277G>T |
p.G426V |
Missense |
13/106 |
- |
1 |
19-38943494-C-T |
c.1280C>T |
p.S427L |
Missense |
13/106 |
- |
2 |
19-38943497-G-A |
c.1283G>A |
p.G428E |
Missense |
13/106 |
- |
1 |
19-38943497-G-C |
c.1283G>C |
p.G428A |
Missense |
13/106 |
- |
1 |
19-38943498-G-A |
c.1284G>A |
p.G428= |
Synonymous |
13/106 |
- |
1 |
19-38943498-G-C |
c.1284G>C |
p.G428= |
Synonymous |
13/106 |
- |
1 |
19-38943498-G-T |
c.1284G>T |
p.G428= |
Synonymous |
13/106 |
- |
1 |
19-38943499-C-T |
c.1285C>T |
p.P429S |
Missense |
13/106 |
- |
3 |
19-38943500-C-T |
c.1286C>T |
p.P429L |
Missense |
13/106 |
- |
3 |
19-38943502-C-T |
c.1288C>T |
p.P430S |
Missense |
13/106 |
- |
1 |
19-38943503-C-T |
c.1289C>T |
p.P430L |
Missense |
13/106 |
- |
2 |
19-38943504-C-A |
c.1290C>A |
p.P430= |
Synonymous |
13/106 |
- |
3 |
19-38943504-C-G |
c.1290C>G |
p.P430= |
Synonymous |
13/106 |
- |
3 |
19-38943504-C-T |
c.1290C>T |
p.P430= |
Synonymous |
13/106 |
- |
5 |
19-38943505-G-A |
c.1291G>A |
p.A431T |
Missense |
13/106 |
- |
2 |
19-38943507-T-A |
c.1293T>A |
p.A431= |
Synonymous |
13/106 |
- |
1 |
19-38943507-T-C |
c.1293T>C |
p.A431= |
Synonymous |
13/106 |
- |
1 |
19-38943507-T-G |
c.1293T>G |
p.A431= |
Synonymous |
13/106 |
- |
1 |
19-38943509-G-A |
c.1295G>A |
p.G432D |
Missense |
13/106 |
- |
1 |
19-38943512-C-A |
c.1298C>A |
p.T433K |
Missense |
13/106 |
- |
1 |
19-38943512-C-T |
c.1298C>T |
p.T433M |
Missense |
13/106 |
- |
3 |
19-38943514-G-A |
c.1300G>A |
p.A434T |
Missense |
13/106 |
- |
1 |
19-38943515-C-T |
c.1301C>T |
p.A434V |
Missense |
13/106 |
- |
1 |
19-38943516-G-A |
c.1302G>A |
p.A434= |
Synonymous |
13/106 |
- |
1 |
19-38943516-G-C |
c.1302G>C |
p.A434= |
Synonymous |
13/106 |
- |
1 |
19-38943516-G-T |
c.1302G>T |
p.A434= |
Synonymous |
13/106 |
- |
1 |
19-38943519-TG-T |
c.1305del |
p.I437Sfs*6 |
Frameshift |
13/106 |
- |
1 |
19-38943521-C-A |
c.1307C>A |
p.P436H |
Missense |
13/106 |
- |
2 |
19-38943521-C-G |
c.1307C>G |
p.P436R |
Missense |
13/106 |
- |
1 |
19-38943523-A-G |
c.1309A>G |
p.I437V |
Missense |
13/106 |
- |
1 |
19-38943524-T-A |
c.1310T>A |
p.I437N |
Missense |
13/106 |
- |
1 |
19-38943524-T-C |
c.1310T>C |
p.I437T |
Missense |
13/106 |
- |
1 |
19-38943525-C-A |
c.1311C>A |
p.I437= |
Synonymous |
13/106 |
- |
1 |
19-38943525-C-T |
c.1311C>T |
p.I437= |
Synonymous |
13/106 |
- |
1 |
19-38943526-G-A |
c.1312G>A |
p.E438K |
Missense |
13/106 |
- |
2 |
19-38943529-G-C |
c.1315G>C |
p.G439R |
Missense |
13/106 |
- |
1 |
19-38943530-GC-AG |
c.1316_1317delinsAG |
p.G439E |
Missense |
13/106 |
- |
1 |
19-38943531-C-A |
c.1317C>A |
p.G439= |
Synonymous |
13/106 |
- |
3 |
19-38943531-C-G |
c.1317C>G |
p.G439= |
Synonymous |
13/106 |
- |
3 |
19-38943531-C-T |
c.1317C>T |
p.G439= |
Synonymous |
13/106 |
- |
4 |
19-38943532-G-A |
c.1318G>A |
p.V440I |
Missense |
13/106 |
- |
2 |
19-38943532-GTT-ATG |
c.1318_1320delinsATG |
p.V440M |
Missense |
13/106 |
- |
1 |
19-38943539-T-C |
c.1325T>C |
p.L442P |
Missense |
13/106 |
- |
1 |
19-38943540-G-C |
c.1326G>C |
p.L442= |
Synonymous |
13/106 |
- |
1 |
19-38943543-C-T |
c.1329C>T |
p.S443= |
Synonymous |
13/106 |
- |
1 |
19-38943545-T-C |
c.1331T>C |
p.L444P |
Missense |
13/106 |
- |
2 |
19-38943546-G-T |
c.1332G>T |
p.L444= |
Synonymous |
13/106 |
- |
1 |
19-38943552-C-G |
c.1338C>G |
p.D446E |
Missense |
13/106 |
- |
1 |
19-38943554-T-C |
c.1340T>C |
p.L447P |
Missense |
13/106 |
- |
1 |
19-38943555-C-A |
c.1341C>A |
p.L447= |
Synonymous |
13/106 |
- |
1 |
19-38943555-C-G |
c.1341C>G |
p.L447= |
Synonymous |
13/106 |
- |
1 |
19-38943555-C-T |
c.1341C>T |
p.L447= |
Synonymous |
13/106 |
- |
1 |
19-38943557-T-C |
c.1343T>C |
p.I448T |
Missense |
13/106 |
- |
1 |
19-38943565-T-C |
c.1351T>C |
p.F451L |
Missense |
13/106 |
- |
1 |
19-38943567-C-T |
c.1353C>T |
p.F451= |
Synonymous |
13/106 |
- |
1 |
19-38943568-G-A |
c.1354G>A |
p.E452K |
Missense |
13/106 |
- |
1 |
19-38943568-G-T |
c.1354G>T |
p.E452* |
Nonsense |
13/106 |
- |
1 |
19-38943570-G-T |
c.1356G>T |
p.E452D |
Missense |
13/106 |
- |
1 |
19-38943571-C-T |
c.1357C>T |
p.P453S |
Missense |
13/106 |
- |
1 |
19-38943572-C-G |
c.1358C>G |
p.P453R |
Missense |
13/106 |
- |
1 |
19-38943572-C-T |
c.1358C>T |
p.P453L |
Missense |
13/106 |
- |
1 |
19-38943574-C-T |
c.1360C>T |
p.P454S |
Missense |
13/106 |
- |
1 |
19-38943575-C-G |
c.1361C>G |
p.P454R |
Missense |
13/106 |
- |
1 |
19-38943576-C-G |
c.1362C>G |
p.P454= |
Synonymous |
13/106 |
- |
2 |
19-38943578-C-G |
c.1364C>G |
p.S455C |
Missense |
13/106 |
- |
1 |
19-38943578-C-T |
c.1364C>T |
p.S455F |
Missense |
13/106 |
- |
1 |
19-38943579-C-A |
c.1365C>A |
p.S455= |
Synonymous |
13/106 |
- |
1 |
19-38943579-C-G |
c.1365C>G |
p.S455= |
Synonymous |
13/106 |
- |
1 |
19-38943579-C-T |
c.1365C>T |
p.S455= |
Synonymous |
13/106 |
- |
2 |
19-38943580-G-A |
c.1366G>A |
p.E456K |
Missense |
13/106 |
- |
5 |
19-38943581-A-T |
c.1367A>T |
p.E456V |
Missense |
13/106 |
- |
1 |
19-38943582-G-C |
c.1368G>C |
p.E456D |
Missense |
13/106 |
- |
1 |
19-38943582-G-T |
c.1368G>T |
p.E456D |
Missense |
13/106 |
- |
1 |
19-38943583-G-A |
c.1369G>A |
p.D457N |
Missense |
13/106 |
- |
4 |
19-38943583-G-C |
c.1369G>C |
p.D457H |
Missense |
13/106 |
- |
1 |
19-38943583-G-T |
c.1369G>T |
p.D457Y |
Missense |
13/106 |
- |
1 |
19-38943584-A-G |
c.1370A>G |
p.D457G |
Missense |
13/106 |
- |
1 |
19-38943586-T-A |
c.1372T>A |
p.L458M |
Missense |
13/106 |
- |
1 |
19-38943586-T-G |
c.1372T>G |
p.L458V |
Missense |
13/106 |
- |
1 |
19-38943586-TTG-CAT |
c.1372_1374delinsCAT |
p.L458H |
Missense |
13/106 |
- |
2 |
19-38943587-T-A |
c.1373T>A |
p.L458* |
Nonsense |
13/106 |
- |
1 |
19-38943587-T-G |
c.1373T>G |
p.L458W |
Missense |
13/106 |
- |
1 |
19-38943593-A-G |
c.1379A>G |
p.H460R |
Missense |
13/106 |
- |
1 |
19-38943595-G-T |
c.1381G>T |
p.E461* |
Nonsense |
13/106 |
- |
1 |
19-38943596-A-T |
c.1382A>T |
p.E461V |
Missense |
13/106 |
- |
1 |
19-38943597-G-C |
c.1383G>C |
p.E461D |
Missense |
13/106 |
- |
1 |
19-38943597-G-T |
c.1383G>T |
p.E461D |
Missense |
13/106 |
- |
1 |
19-38943598-G-A |
c.1384G>A |
p.E462K |
Missense |
13/106 |
- |
1 |
19-38943598-G-C |
c.1384G>C |
p.E462Q |
Missense |
13/106 |
- |
1 |
19-38943600-G-A |
c.1386G>A |
p.E462= |
Synonymous |
13/106 |
- |
2 |
19-38943605-A-G |
c.1391A>G |
p.Q464R |
Missense |
13/106 |
- |
1 |
19-38943607-AGC-TGA |
c.1393_1395delinsTGA |
p.S465* |
Nonsense |
13/106 |
- |
1 |
19-38943608-G-A |
c.1394G>A |
p.S465N |
Missense |
13/106 |
- |
1 |
19-38943614-T-G |
c.1400T>G |
p.L467R |
Missense |
13/106 |
- |
1 |
19-38943613-C-T |
c.1399C>T |
p.L467= |
Synonymous |
13/106 |
- |
1 |
19-38943615-G-A |
c.1401G>A |
p.L467= |
Synonymous |
13/106 |
- |
1 |
19-38943615-G-C |
c.1401G>C |
p.L467= |
Synonymous |
13/106 |
- |
1 |
19-38943615-G-T |
c.1401G>T |
p.L467= |
Synonymous |
13/106 |
- |
1 |
19-38943616-C-T |
c.1402C>T |
p.R468* |
Nonsense |
13/106 |
- |
1 |
19-38943617-G-A |
c.1403G>A |
p.R468Q |
Missense |
13/106 |
- |
1 |
19-38943617-G-C |
c.1403G>C |
p.R468P |
Missense |
13/106 |
- |
1 |
19-38943620-G-C |
c.1406G>C |
p.S469T |
Missense |
13/106 |
- |
1 |
19-38943625-C-T |
c.1411C>T |
p.R471C |
Missense |
13/106 |
- |
5 |
19-38943626-G-A |
c.1412G>A |
p.R471H |
Missense |
13/106 |
- |
3 |
19-38943626-G-C |
c.1412G>C |
p.R471P |
Missense |
13/106 |
- |
1 |
19-38943631-CG-AT |
c.1417_1418delinsAT |
p.R473I |
Missense |
13/106 |
- |
1 |
19-38943631-CGC-TGA |
c.1417_1419delinsTGA |
p.R473* |
Nonsense |
13/106 |
- |
1 |
19-38943632-G-A |
c.1418G>A |
p.R473H |
Missense |
13/106 |
- |
3 |
19-38943632-G-T |
c.1418G>T |
p.R473L |
Missense |
13/106 |
- |
1 |
19-38943636-G-T |
c.1422G>T |
p.Q474H |
Missense |
13/106 |
- |
1 |
19-38943639-C-A |
c.1425C>A |
p.S475R |
Missense |
13/106 |
- |
1 |
19-38943640-C-A |
c.1426C>A |
p.L476I |
Missense |
13/106 |
- |
2 |
19-38943640-C-T |
c.1426C>T |
p.L476F |
Missense |
13/106 |
- |
1 |
19-38943642-C-A |
c.1428C>A |
p.L476= |
Synonymous |
13/106 |
- |
1 |
19-38943642-C-G |
c.1428C>G |
p.L476= |
Synonymous |
13/106 |
- |
1 |
19-38943642-C-T |
c.1428C>T |
p.L476= |
Synonymous |
13/106 |
- |
2 |
19-38943649-G-A |
c.1435G>A |
p.E479K |
Missense |
13/106 |
- |
2 |
19-38943649-G-C |
c.1435G>C |
p.E479Q |
Missense |
13/106 |
- |
1 |
19-38943652-G-A |
c.1438G>A |
p.E480K |
Missense |
13/106 |
- |
3 |
19-38943655-G-A |
c.1440+1G>A |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38943656-TGAGGACGTGGC-T |
c.1440+7_1440+17del |
- |
IntronicDeletion |
- |
13/105 |
1 |
19-38943728-G-A |
c.1440+74G>A |
- |
IntronicSNV |
- |
13/105 |
8 |
19-38943728-G-C |
c.1440+74G>C |
- |
IntronicSNV |
- |
13/105 |
5 |
19-38943853-G-A |
c.1440+199G>A |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38943950-G-A |
c.1440+296G>A |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38943950-G-T |
c.1440+296G>T |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38943992-T-A |
c.1440+338T>A |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38943992-T-C |
c.1440+338T>C |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38943992-T-G |
c.1440+338T>G |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38944346-A-G |
c.1440+692A>G |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38944716-A-G |
c.1440+1062A>G |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38944727-A-C |
c.1440+1073A>C |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38944738-G-A |
c.1440+1084G>A |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38944888-C-G |
c.1441-987C>G |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38945092-A-G |
c.1441-783A>G |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38945240-A-G |
c.1441-635A>G |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38945402-A-G |
c.1441-473A>G |
- |
IntronicSNV |
- |
13/105 |
1 |
19-38945640-A-G |
c.1441-235A>G |
- |
IntronicSNV |
- |
13/105 |
2 |
19-38945851-T-C |
c.1441-24T>C |
- |
IntronicSNV |
- |
13/105 |
13 |
19-38945875-G-A |
c.1441G>A |
p.G481R |
Missense |
14/106 |
- |
1 |
19-38945875-G-C |
c.1441G>C |
p.G481R |
Missense |
14/106 |
- |
1 |
19-38945876-G-A |
c.1442G>A |
p.G481E |
Missense |
14/106 |
- |
5 |
19-38945876-G-C |
c.1442G>C |
p.G481A |
Missense |
14/106 |
- |
2 |
19-38945881-C-T |
c.1447C>T |
p.L483F |
Missense |
14/106 |
- |
1 |
19-38945883-C-T |
c.1449C>T |
p.L483= |
Synonymous |
14/106 |
- |
1 |
19-38945883-C-CT |
c.1450dup |
p.S484Ffs*21 |
Frameshift |
14/106 |
- |
1 |
19-38945884-TC-CT |
c.1450_1451delinsCT |
p.S484L |
Missense |
14/106 |
- |
1 |
19-38945886-C-T |
c.1452C>T |
p.S484= |
Synonymous |
14/106 |
- |
3 |
19-38945887-A-G |
c.1453A>G |
p.M485V |
Missense |
14/106 |
- |
18 |
19-38945887-AT-TA |
c.1453_1454delinsTA |
p.M485* |
Nonsense |
14/106 |
- |
1 |
19-38945887-AT-TG |
c.1453_1454delinsTG |
p.M485W |
Missense |
14/106 |
- |
1 |
19-38945889-G-C |
c.1455G>C |
p.M485I |
Missense |
14/106 |
- |
1 |
19-38945890-G-A |
c.1456G>A |
p.V486I |
Missense |
14/106 |
- |
1 |
19-38945890-G-C |
c.1456G>C |
p.V486L |
Missense |
14/106 |
- |
2 |
19-38945892-C-A |
c.1458C>A |
p.V486= |
Synonymous |
14/106 |
- |
1 |
19-38945892-C-G |
c.1458C>G |
p.V486= |
Synonymous |
14/106 |
- |
1 |
19-38945893-C-G |
c.1459C>G |
p.L487V |
Missense |
14/106 |
- |
1 |
19-38945894-T-C |
c.1460T>C |
p.L487P |
Missense |
14/106 |
- |
2 |
19-38945893-C-T |
c.1459C>T |
p.L487= |
Synonymous |
14/106 |
- |
2 |
19-38945895-G-A |
c.1461G>A |
p.L487= |
Synonymous |
14/106 |
- |
2 |
19-38945895-G-C |
c.1461G>C |
p.L487= |
Synonymous |
14/106 |
- |
3 |
19-38945895-G-T |
c.1461G>T |
p.L487= |
Synonymous |
14/106 |
- |
2 |
19-38945895-GA-G |
c.1463del |
p.N488Ifs*3 |
Frameshift |
14/106 |
- |
1 |
19-38945900-G-T |
c.1466G>T |
p.C489F |
Missense |
14/106 |
- |
3 |
19-38945901-C-G |
c.1467C>G |
p.C489W |
Missense |
14/106 |
- |
1 |
19-38945901-C-T |
c.1467C>T |
p.C489= |
Synonymous |
14/106 |
- |
1 |
19-38945905-G-A |
c.1471G>A |
p.D491N |
Missense |
14/106 |
- |
1 |
19-38945907-C-A |
c.1473C>A |
p.D491E |
Missense |
14/106 |
- |
1 |
19-38945907-C-G |
c.1473C>G |
p.D491E |
Missense |
14/106 |
- |
1 |
19-38945907-C-T |
c.1473C>T |
p.D491= |
Synonymous |
14/106 |
- |
1 |
19-38945908-C-G |
c.1474C>G |
p.R492G |
Missense |
14/106 |
- |
4 |
19-38945908-CGC-TGG |
c.1474_1476delinsTGG |
p.R492W |
Missense |
14/106 |
- |
1 |
19-38945908-C-T |
c.1474C>T |
p.R492C |
Missense |
14/106 |
- |
7 |
19-38945909-G-A |
c.1475G>A |
p.R492H |
Missense |
14/106 |
- |
3 |
19-38945909-G-T |
c.1475G>T |
p.R492L |
Missense |
14/106 |
- |
2 |
19-38945910-C-T |
c.1476C>T |
p.R492= |
Synonymous |
14/106 |
- |
1 |
19-38945914-A-C |
c.1480A>C |
p.N494H |
Missense |
14/106 |
- |
2 |
19-38945920-T-C |
c.1486T>C |
p.Y496H |
Missense |
14/106 |
- |
1 |
19-38945920-T-G |
c.1486T>G |
p.Y496D |
Missense |
14/106 |
- |
1 |
19-38945921-A-T |
c.1487A>T |
p.Y496F |
Missense |
14/106 |
- |
1 |
19-38945923-A-G |
c.1489A>G |
p.T497A |
Missense |
14/106 |
- |
1 |
19-38945924-C-A |
c.1490C>A |
p.T497N |
Missense |
14/106 |
- |
1 |
19-38945924-C-T |
c.1490C>T |
p.T497I |
Missense |
14/106 |
- |
2 |
19-38945925-C-A |
c.1491C>A |
p.T497= |
Synonymous |
14/106 |
- |
1 |
19-38945925-C-G |
c.1491C>G |
p.T497= |
Synonymous |
14/106 |
- |
1 |
19-38945925-C-T |
c.1491C>T |
p.T497= |
Synonymous |
14/106 |
- |
1 |
19-38945926-A-T |
c.1492A>T |
p.T498S |
Missense |
14/106 |
- |
1 |
19-38945928-T-A |
c.1494T>A |
p.T498= |
Synonymous |
14/106 |
- |
1 |
19-38945928-T-C |
c.1494T>C |
p.T498= |
Synonymous |
14/106 |
- |
1 |
19-38945928-T-G |
c.1494T>G |
p.T498= |
Synonymous |
14/106 |
- |
1 |
19-38945929-G-A |
c.1495G>A |
p.A499T |
Missense |
14/106 |
- |
1 |
19-38945932-G-A |
c.1498G>A |
p.A500T |
Missense |
14/106 |
- |
1 |
19-38945936-A-C |
c.1502A>C |
p.H501P |
Missense |
14/106 |
- |
1 |
19-38945937-C-T |
c.1503C>T |
p.H501= |
Synonymous |
14/106 |
- |
1 |
19-38945942-C-T |
c.1508C>T |
p.A503V |
Missense |
14/106 |
- |
1 |
19-38945943-T-A |
c.1509T>A |
p.A503= |
Synonymous |
14/106 |
- |
1 |
19-38945943-T-C |
c.1509T>C |
p.A503= |
Synonymous |
14/106 |
- |
1 |
19-38945943-T-G |
c.1509T>G |
p.A503= |
Synonymous |
14/106 |
- |
1 |
19-38945944-G-A |
c.1510G>A |
p.E504K |
Missense |
14/106 |
- |
4 |
19-38945950-G-A |
c.1516G>A |
p.A506T |
Missense |
14/106 |
- |
2 |
19-38945953-G-A |
c.1519G>A |
p.G507R |
Missense |
14/106 |
- |
4 |
19-38945953-G-C |
c.1519G>C |
p.G507R |
Missense |
14/106 |
- |
2 |
19-38945954-G-A |
c.1520G>A |
p.G507E |
Missense |
14/106 |
- |
3 |
19-38945955-G-A |
c.1521G>A |
p.G507= |
Synonymous |
14/106 |
- |
2 |
19-38945955-G-C |
c.1521G>C |
p.G507= |
Synonymous |
14/106 |
- |
1 |
19-38945955-G-T |
c.1521G>T |
p.G507= |
Synonymous |
14/106 |
- |
1 |
19-38945956-G-C |
c.1522G>C |
p.E508Q |
Missense |
14/106 |
- |
2 |
19-38945959-G-A |
c.1525G>A |
p.E509K |
Missense |
14/106 |
- |
2 |
19-38945965-G-A |
c.1531G>A |
p.A511T |
Missense |
14/106 |
- |
1 |
19-38945968-G-A |
c.1534G>A |
p.E512K |
Missense |
14/106 |
- |
7 |
19-38945975-G-A |
c.1541G>A |
p.W514* |
Nonsense |
14/106 |
- |
1 |
19-38945976-G-A |
c.1542G>A |
p.W514* |
Nonsense |
14/106 |
- |
1 |
19-38945977-A-T |
c.1543A>T |
p.K515* |
Nonsense |
14/106 |
- |
1 |
19-38945980-G-A |
c.1546G>A |
p.E516K |
Missense |
14/106 |
- |
4 |
19-38945982-G-C |
c.1548G>C |
p.E516D |
Missense |
14/106 |
- |
1 |
19-38945984-T-C |
c.1550T>C |
p.I517T |
Missense |
14/106 |
- |
1 |
19-38945986-G-A |
c.1552G>A |
p.V518M |
Missense |
14/106 |
- |
1 |
19-38945987-T-C |
c.1553T>C |
p.V518A |
Missense |
14/106 |
- |
2 |
19-38945990-A-C |
c.1556A>C |
p.N519T |
Missense |
14/106 |
- |
1 |
19-38945993-T-C |
c.1559T>C |
p.L520P |
Missense |
14/106 |
- |
1 |
19-38945994-T-A |
c.1560T>A |
p.L520= |
Synonymous |
14/106 |
- |
1 |
19-38945994-T-C |
c.1560T>C |
p.L520= |
Synonymous |
14/106 |
- |
1 |
19-38945994-T-G |
c.1560T>G |
p.L520= |
Synonymous |
14/106 |
- |
1 |
19-38945995-C-G |
c.1561C>G |
p.L521V |
Missense |
14/106 |
- |
1 |
19-38945995-C-T |
c.1561C>T |
p.L521F |
Missense |
14/106 |
- |
5 |
19-38945997-C-A |
c.1563C>A |
p.L521= |
Synonymous |
14/106 |
- |
1 |
19-38945997-C-G |
c.1563C>G |
p.L521= |
Synonymous |
14/106 |
- |
1 |
19-38945997-C-T |
c.1563C>T |
p.L521= |
Synonymous |
14/106 |
- |
1 |
19-38945999-A-C |
c.1565A>C |
p.Y522S |
Missense |
14/106 |
- |
94 |
19-38945999-A-G |
c.1565A>G |
p.Y522C |
Missense |
14/106 |
- |
4 |
19-38946000-T-C |
c.1566T>C |
p.Y522= |
Synonymous |
14/106 |
- |
2 |
19-38946001-G-A |
c.1567G>A |
p.E523K |
Missense |
14/106 |
- |
2 |
19-38946003-A-G |
c.1569A>G |
p.E523= |
Synonymous |
14/106 |
- |
2 |
19-38946005-T-C |
c.1571T>C |
p.L524P |
Missense |
14/106 |
- |
1 |
19-38946008-T-A |
c.1574T>A |
p.L525Q |
Missense |
14/106 |
- |
1 |
19-38946007-C-T |
c.1573C>T |
p.L525= |
Synonymous |
14/106 |
- |
1 |
19-38946009-A-C |
c.1575A>C |
p.L525= |
Synonymous |
14/106 |
- |
1 |
19-38946009-A-G |
c.1575A>G |
p.L525= |
Synonymous |
14/106 |
- |
1 |
19-38946009-A-T |
c.1575A>T |
p.L525= |
Synonymous |
14/106 |
- |
1 |
19-38946011-G-A |
c.1576+1G>A |
- |
IntronicSNV |
- |
14/105 |
1 |
19-38946048-A-G |
c.1576+38A>G |
- |
IntronicSNV |
- |
14/105 |
1 |
19-38946085-C-A |
c.1577-6C>A |
- |
IntronicSNV |
- |
14/105 |
1 |
19-38946085-C-G |
c.1577-6C>G |
- |
IntronicSNV |
- |
14/105 |
1 |
19-38946093-T-C |
c.1579T>C |
p.S527P |
Missense |
15/106 |
- |
1 |
19-38946094-C-T |
c.1580C>T |
p.S527F |
Missense |
15/106 |
- |
2 |
19-38946099-A-G |
c.1585A>G |
p.I529V |
Missense |
15/106 |
- |
1 |
19-38946101-C-A |
c.1587C>A |
p.I529= |
Synonymous |
15/106 |
- |
1 |
19-38946101-C-T |
c.1587C>T |
p.I529= |
Synonymous |
15/106 |
- |
3 |
19-38946102-C-A |
c.1588C>A |
p.R530S |
Missense |
15/106 |
- |
3 |
19-38946102-C-T |
c.1588C>T |
p.R530C |
Missense |
15/106 |
- |
10 |
19-38946103-G-A |
c.1589G>A |
p.R530H |
Missense |
15/106 |
- |
33 |
19-38946103-G-T |
c.1589G>T |
p.R530L |
Missense |
15/106 |
- |
4 |
19-38946106-G-A |
c.1592G>A |
p.G531D |
Missense |
15/106 |
- |
1 |
19-38946109-A-G |
c.1595A>G |
p.N532S |
Missense |
15/106 |
- |
1 |
19-38946111-C-A |
c.1597C>A |
p.R533S |
Missense |
15/106 |
- |
3 |
19-38946111-C-G |
c.1597C>G |
p.R533G |
Missense |
15/106 |
- |
1 |
19-38946111-C-T |
c.1597C>T |
p.R533C |
Missense |
15/106 |
- |
14 |
19-38946112-G-A |
c.1598G>A |
p.R533H |
Missense |
15/106 |
- |
15 |
19-38946114-A-C |
c.1600A>C |
p.S534R |
Missense |
15/106 |
- |
1 |
19-38946116-C-A |
c.1602C>A |
p.S534R |
Missense |
15/106 |
- |
1 |
19-38946116-C-G |
c.1602C>G |
p.S534R |
Missense |
15/106 |
- |
1 |
19-38946116-C-T |
c.1602C>T |
p.S534= |
Synonymous |
15/106 |
- |
1 |
19-38946117-A-C |
c.1603A>C |
p.N535H |
Missense |
15/106 |
- |
1 |
19-38946118-A-G |
c.1604A>G |
p.N535S |
Missense |
15/106 |
- |
2 |
19-38946118-A-T |
c.1604A>T |
p.N535I |
Missense |
15/106 |
- |
2 |
19-38946119-C-T |
c.1605C>T |
p.N535= |
Synonymous |
15/106 |
- |
1 |
19-38946123-G-A |
c.1609G>A |
p.A537T |
Missense |
15/106 |
- |
2 |
19-38946124-C-A |
c.1610C>A |
p.A537D |
Missense |
15/106 |
- |
1 |
19-38946124-C-T |
c.1610C>T |
p.A537V |
Missense |
15/106 |
- |
1 |
19-38946126-C-G |
c.1612C>G |
p.L538V |
Missense |
15/106 |
- |
1 |
19-38946126-C-T |
c.1612C>T |
p.L538F |
Missense |
15/106 |
- |
1 |
19-38946127-T-C |
c.1613T>C |
p.L538P |
Missense |
15/106 |
- |
1 |
19-38946129-T-G |
c.1615T>G |
p.F539V |
Missense |
15/106 |
- |
2 |
19-38946133-C-T |
c.1619C>T |
p.S540F |
Missense |
15/106 |
- |
1 |
19-38946134-C-A |
c.1620C>A |
p.S540= |
Synonymous |
15/106 |
- |
1 |
19-38946134-C-G |
c.1620C>G |
p.S540= |
Synonymous |
15/106 |
- |
1 |
19-38946134-C-T |
c.1620C>T |
p.S540= |
Synonymous |
15/106 |
- |
1 |
19-38946137-A-C |
c.1623A>C |
p.T541= |
Synonymous |
15/106 |
- |
1 |
19-38946137-A-G |
c.1623A>G |
p.T541= |
Synonymous |
15/106 |
- |
1 |
19-38946137-A-T |
c.1623A>T |
p.T541= |
Synonymous |
15/106 |
- |
1 |
19-38946138-A-G |
c.1624A>G |
p.N542D |
Missense |
15/106 |
- |
1 |
19-38946139-A-C |
c.1625A>C |
p.N542T |
Missense |
15/106 |
- |
1 |
19-38946139-A-G |
c.1625A>G |
p.N542S |
Missense |
15/106 |
- |
1 |
19-38946141-T-G |
c.1627T>G |
p.L543V |
Missense |
15/106 |
- |
1 |
19-38946143-G-C |
c.1629G>C |
p.L543F |
Missense |
15/106 |
- |
2 |
19-38946143-G-GT |
c.1629_1630insT |
p.D544* |
Nonsense |
15/106 |
- |
1 |
19-38946143-G-T |
c.1629G>T |
p.L543F |
Missense |
15/106 |
- |
3 |
19-38946144-G-T |
c.1630G>T |
p.D544Y |
Missense |
15/106 |
- |
3 |
19-38946146-C-A |
c.1632C>A |
p.D544E |
Missense |
15/106 |
- |
1 |
19-38946146-C-G |
c.1632C>G |
p.D544E |
Missense |
15/106 |
- |
1 |
19-38946148-G-A |
c.1634G>A |
p.W545* |
Nonsense |
15/106 |
- |
1 |
19-38946149-G-A |
c.1635G>A |
p.W545* |
Nonsense |
15/106 |
- |
2 |
19-38946150-C-T |
c.1636C>T |
p.L546= |
Synonymous |
15/106 |
- |
1 |
19-38946151-T-C |
c.1637T>C |
p.L546P |
Missense |
15/106 |
- |
1 |
19-38946152-TGG-T |
c.1638_1639del |
p.V547Qfs*22 |
Frameshift |
15/106 |
- |
1 |
19-38946154-T-C |
c.1640T>C |
p.V547A |
Missense |
15/106 |
- |
3 |
19-38946156-A-C |
c.1642A>C |
p.S548R |
Missense |
15/106 |
- |
1 |
19-38946158-C-A |
c.1644C>A |
p.S548R |
Missense |
15/106 |
- |
1 |
19-38946158-C-G |
c.1644C>G |
p.S548R |
Missense |
15/106 |
- |
1 |
19-38946161-AG-A |
c.1647del |
p.K549Nfs*26 |
Frameshift |
15/106 |
- |
1 |
19-38946161-G-A |
c.1647G>A |
p.K549= |
Synonymous |
15/106 |
- |
1 |
19-38946162-C-A |
c.1648C>A |
p.L550M |
Missense |
15/106 |
- |
1 |
19-38946163-T-C |
c.1649T>C |
p.L550P |
Missense |
15/106 |
- |
1 |
19-38946163-TG-AT |
c.1649_1650delinsAT |
p.L550H |
Missense |
15/106 |
- |
1 |
19-38946168-C-G |
c.1654C>G |
p.R552G |
Missense |
15/106 |
- |
1 |
19-38946168-CG-AA |
c.1654_1655delinsAA |
p.R552K |
Missense |
15/106 |
- |
1 |
19-38946168-CG-AC |
c.1654_1655delinsAC |
p.R552T |
Missense |
15/106 |
- |
1 |
19-38946168-CG-AT |
c.1654_1655delinsAT |
p.R552M |
Missense |
15/106 |
- |
1 |
19-38946168-CGG-AGC |
c.1654_1656delinsAGC |
p.R552S |
Missense |
15/106 |
- |
2 |
19-38946168-C-T |
c.1654C>T |
p.R552W |
Missense |
15/106 |
- |
19 |
19-38946169-G-A |
c.1655G>A |
p.R552Q |
Missense |
15/106 |
- |
1 |
19-38946169-G-T |
c.1655G>T |
p.R552L |
Missense |
15/106 |
- |
2 |
19-38946174-G-A |
c.1660G>A |
p.E554K |
Missense |
15/106 |
- |
1 |
19-38946175-A-G |
c.1661A>G |
p.E554G |
Missense |
15/106 |
- |
1 |
19-38946176-G-T |
c.1662G>T |
p.E554D |
Missense |
15/106 |
- |
1 |
19-38946177-G-A |
c.1663G>A |
p.A555T |
Missense |
15/106 |
- |
1 |
19-38946180-TC-AT |
c.1666_1667delinsAT |
p.S556M |
Missense |
15/106 |
- |
1 |
19-38946181-C-G |
c.1667C>G |
p.S556W |
Missense |
15/106 |
- |
1 |
19-38946181-CG-AT |
c.1667_1668delinsAT |
p.S556Y |
Missense |
15/106 |
- |
1 |
19-38946181-C-T |
c.1667C>T |
p.S556L |
Missense |
15/106 |
- |
2 |
19-38946182-G-A |
c.1668G>A |
p.S556= |
Synonymous |
15/106 |
- |
30 |
19-38946182-G-C |
c.1668G>C |
p.S556= |
Synonymous |
15/106 |
- |
1 |
19-38946182-G-T |
c.1668G>T |
p.S556= |
Synonymous |
15/106 |
- |
1 |
19-38946185-T-A |
c.1671T>A |
p.S557= |
Synonymous |
15/106 |
- |
1 |
19-38946185-T-C |
c.1671T>C |
p.S557= |
Synonymous |
15/106 |
- |
1 |
19-38946185-T-G |
c.1671T>G |
p.S557= |
Synonymous |
15/106 |
- |
1 |
19-38946186-G-A |
c.1672G>A |
p.G558S |
Missense |
15/106 |
- |
1 |
19-38946185-TG-T |
c.1672+1del |
- |
Frameshift |
- |
15/105 |
1 |
19-38946204-A-G |
c.1672+18A>G |
- |
IntronicSNV |
- |
15/105 |
1 |
19-38946215-G-A |
c.1672+29G>A |
- |
IntronicSNV |
- |
15/105 |
10 |
19-38946215-G-C |
c.1672+29G>C |
- |
IntronicSNV |
- |
15/105 |
14 |
19-38946215-G-T |
c.1672+29G>T |
- |
IntronicSNV |
- |
15/105 |
10 |
19-38946273-G-T |
c.1673G>T |
p.G558V |
Missense |
16/106 |
- |
1 |
19-38946274-C-CA |
c.1675dup |
p.I559Nfs*11 |
Frameshift |
16/106 |
- |
2 |
19-38946276-T-C |
c.1676T>C |
p.I559T |
Missense |
16/106 |
- |
1 |
19-38946276-T-G |
c.1676T>G |
p.I559S |
Missense |
16/106 |
- |
1 |
19-38946278-C-G |
c.1678C>G |
p.L560V |
Missense |
16/106 |
- |
1 |
19-38946278-C-T |
c.1678C>T |
p.L560= |
Synonymous |
16/106 |
- |
1 |
19-38946287-C-A |
c.1687C>A |
p.L563M |
Missense |
16/106 |
- |
1 |
19-38946287-C-G |
c.1687C>G |
p.L563V |
Missense |
16/106 |
- |
1 |
19-38946289-G-T |
c.1689G>T |
p.L563= |
Synonymous |
16/106 |
- |
1 |
19-38946290-T-C |
c.1690T>C |
p.Y564H |
Missense |
16/106 |
- |
1 |
19-38946292-C-T |
c.1692C>T |
p.Y564= |
Synonymous |
16/106 |
- |
2 |
19-38946294-G-T |
c.1694G>T |
p.C565F |
Missense |
16/106 |
- |
2 |
19-38946298-C-T |
c.1698C>T |
p.V566= |
Synonymous |
16/106 |
- |
1 |
19-38946299-C-T |
c.1699C>T |
p.L567F |
Missense |
16/106 |
- |
1 |
19-38946300-T-A |
c.1700T>A |
p.L567H |
Missense |
16/106 |
- |
1 |
19-38946300-T-C |
c.1700T>C |
p.L567P |
Missense |
16/106 |
- |
1 |
19-38946301-C-A |
c.1701C>A |
p.L567= |
Synonymous |
16/106 |
- |
2 |
19-38946301-C-G |
c.1701C>G |
p.L567= |
Synonymous |
16/106 |
- |
2 |
19-38946301-C-T |
c.1701C>T |
p.L567= |
Synonymous |
16/106 |
- |
2 |
19-38946306-A-G |
c.1706A>G |
p.E569G |
Missense |
16/106 |
- |
2 |
19-38946307-G-A |
c.1707G>A |
p.E569= |
Synonymous |
16/106 |
- |
1 |
19-38946310-TC-T |
c.1712del |
p.P571Qfs*4 |
Frameshift |
16/106 |
- |
1 |
19-38946312-C-T |
c.1712C>T |
p.P571L |
Missense |
16/106 |
- |
1 |
19-38946314-G-A |
c.1714G>A |
p.E572K |
Missense |
16/106 |
- |
1 |
19-38946315-A-C |
c.1715A>C |
p.E572A |
Missense |
16/106 |
- |
2 |
19-38946316-G-C |
c.1716G>C |
p.E572D |
Missense |
16/106 |
- |
1 |
19-38946316-G-T |
c.1716G>T |
p.E572D |
Missense |
16/106 |
- |
1 |
19-38946317-G-A |
c.1717G>A |
p.V573I |
Missense |
16/106 |
- |
1 |
19-38946320-C-G |
c.1720C>G |
p.L574V |
Missense |
16/106 |
- |
1 |
19-38946327-T-C |
c.1727T>C |
p.I576T |
Missense |
16/106 |
- |
1 |
19-38946327-T-G |
c.1727T>G |
p.I576S |
Missense |
16/106 |
- |
2 |
19-38946333-A-G |
c.1733A>G |
p.Q578R |
Missense |
16/106 |
- |
1 |
19-38946334-G-A |
c.1734G>A |
p.Q578= |
Synonymous |
16/106 |
- |
1 |
19-38946335-G-A |
c.1735G>A |
p.E579K |
Missense |
16/106 |
- |
1 |
19-38946337-G-A |
c.1737G>A |
p.E579= |
Synonymous |
16/106 |
- |
1 |
19-38946337-G-C |
c.1737G>C |
p.E579D |
Missense |
16/106 |
- |
1 |
19-38946337-G-T |
c.1737G>T |
p.E579D |
Missense |
16/106 |
- |
1 |
19-38946338-A-C |
c.1738A>C |
p.N580H |
Missense |
16/106 |
- |
1 |
19-38946338-A-G |
c.1738A>G |
p.N580D |
Missense |
16/106 |
- |
1 |
19-38946339-A-C |
c.1739A>C |
p.N580T |
Missense |
16/106 |
- |
1 |
19-38946339-A-AT |
c.1740dup |
p.H581Sfs*29 |
Frameshift |
16/106 |
- |
1 |
19-38946341-C-CA |
c.1742dup |
p.H581Qfs*29 |
Frameshift |
16/106 |
- |
2 |
19-38946344-A-G |
c.1744A>G |
p.I582V |
Missense |
16/106 |
- |
2 |
19-38946345-T-C |
c.1745T>C |
p.I582T |
Missense |
16/106 |
- |
1 |
19-38946346-C-A |
c.1746C>A |
p.I582= |
Synonymous |
16/106 |
- |
1 |
19-38946346-C-G |
c.1746C>G |
p.I582M |
Missense |
16/106 |
- |
1 |
19-38946350-T-A |
c.1750T>A |
p.S584T |
Missense |
16/106 |
- |
1 |
19-38946350-T-C |
c.1750T>C |
p.S584P |
Missense |
16/106 |
- |
1 |
19-38946358-C-A |
c.1758C>A |
p.I586= |
Synonymous |
16/106 |
- |
1 |
19-38946360-C-T |
c.1760C>T |
p.S587F |
Missense |
16/106 |
- |
2 |
19-38946361-C-A |
c.1761C>A |
p.S587= |
Synonymous |
16/106 |
- |
2 |
19-38946361-C-G |
c.1761C>G |
p.S587= |
Synonymous |
16/106 |
- |
2 |
19-38946361-C-T |
c.1761C>T |
p.S587= |
Synonymous |
16/106 |
- |
2 |
19-38946362-C-T |
c.1762C>T |
p.L588F |
Missense |
16/106 |
- |
1 |
19-38946363-T-C |
c.1763T>C |
p.L588P |
Missense |
16/106 |
- |
1 |
19-38946364-C-A |
c.1764C>A |
p.L588= |
Synonymous |
16/106 |
- |
2 |
19-38946364-C-G |
c.1764C>G |
p.L588= |
Synonymous |
16/106 |
- |
1 |
19-38946364-C-T |
c.1764C>T |
p.L588= |
Synonymous |
16/106 |
- |
1 |
19-38946365-C-T |
c.1765C>T |
p.L589= |
Synonymous |
16/106 |
- |
2 |
19-38946367-G-A |
c.1767G>A |
p.L589= |
Synonymous |
16/106 |
- |
2 |
19-38946367-G-C |
c.1767G>C |
p.L589= |
Synonymous |
16/106 |
- |
1 |
19-38946367-G-T |
c.1767G>T |
p.L589= |
Synonymous |
16/106 |
- |
1 |
19-38946368-G-A |
c.1768G>A |
p.D590N |
Missense |
16/106 |
- |
3 |
19-38946368-G-T |
c.1768G>T |
p.D590Y |
Missense |
16/106 |
- |
1 |
19-38946371-A-G |
c.1771A>G |
p.K591E |
Missense |
16/106 |
- |
2 |
19-38946376-AT-A |
c.1776del |
p.H592Qfs*74 |
Frameshift |
16/106 |
- |
1 |
19-38946376-T-G |
c.1776T>G |
p.H592Q |
Missense |
16/106 |
- |
1 |
19-38946377-G-A |
c.1777G>A |
p.G593R |
Missense |
16/106 |
- |
5 |
19-38946377-G-C |
c.1777G>C |
p.G593R |
Missense |
16/106 |
- |
2 |
19-38946377-GGG-AGC |
c.1777_1779delinsAGC |
p.G593S |
Missense |
16/106 |
- |
1 |
19-38946378-G-A |
c.1778G>A |
p.G593E |
Missense |
16/106 |
- |
2 |
19-38946381-G-A |
c.1781G>A |
p.R594K |
Missense |
16/106 |
- |
1 |
19-38946381-G-T |
c.1781G>T |
p.R594M |
Missense |
16/106 |
- |
1 |
19-38946380-A-C |
c.1780A>C |
p.R594= |
Synonymous |
16/106 |
- |
1 |
19-38946382-G-A |
c.1782G>A |
p.R594= |
Synonymous |
16/106 |
- |
1 |
19-38946385-C-T |
c.1785C>T |
p.N595= |
Synonymous |
16/106 |
- |
1 |
19-38946388-C-A |
c.1788C>A |
p.H596Q |
Missense |
16/106 |
- |
1 |
19-38946388-C-G |
c.1788C>G |
p.H596Q |
Missense |
16/106 |
- |
1 |
19-38946788-T-A |
c.1791+397T>A |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38946851-A-C |
c.1791+460A>C |
- |
IntronicSNV |
- |
16/105 |
2 |
19-38946851-A-G |
c.1791+460A>G |
- |
IntronicSNV |
- |
16/105 |
2 |
19-38946851-A-T |
c.1791+460A>T |
- |
IntronicSNV |
- |
16/105 |
2 |
19-38946904-A-G |
c.1791+513A>G |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38946907-G-A |
c.1791+516G>A |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38946907-G-C |
c.1791+516G>C |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38947366-A-T |
c.1792-771A>T |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38947636-A-C |
c.1792-501A>C |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38947642-C-A |
c.1792-495C>A |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38947642-C-T |
c.1792-495C>T |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38947920-G-C |
c.1792-217G>C |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38948034-C-T |
c.1792-103C>T |
- |
IntronicSNV |
- |
16/105 |
1 |
19-38948137-G-A |
c.1792G>A |
p.V598I |
Missense |
17/106 |
- |
6 |
19-38948139-C-T |
c.1794C>T |
p.V598= |
Synonymous |
17/106 |
- |
4 |
19-38948140-C-T |
c.1795C>T |
p.L599= |
Synonymous |
17/106 |
- |
1 |
19-38948143-G-A |
c.1798G>A |
p.D600N |
Missense |
17/106 |
- |
2 |
19-38948144-A-G |
c.1799A>G |
p.D600G |
Missense |
17/106 |
- |
1 |
19-38948145-C-T |
c.1800C>T |
p.D600= |
Synonymous |
17/106 |
- |
1 |
19-38948149-C-T |
c.1804C>T |
p.L602= |
Synonymous |
17/106 |
- |
1 |
19-38948151-A-C |
c.1806A>C |
p.L602= |
Synonymous |
17/106 |
- |
1 |
19-38948151-A-G |
c.1806A>G |
p.L602= |
Synonymous |
17/106 |
- |
1 |
19-38948151-A-T |
c.1806A>T |
p.L602= |
Synonymous |
17/106 |
- |
1 |
19-38948152-ATG-A |
c.1807_1808del |
p.C603Lfs*6 |
Frameshift |
17/106 |
- |
1 |
19-38948155-T-A |
c.1810T>A |
p.S604T |
Missense |
17/106 |
- |
1 |
19-38948155-T-C |
c.1810T>C |
p.S604P |
Missense |
17/106 |
- |
1 |
19-38948156-C-T |
c.1811C>T |
p.S604F |
Missense |
17/106 |
- |
2 |
19-38948161-TG-AC |
c.1816_1817delinsAC |
p.C606T |
Missense |
17/106 |
- |
1 |
19-38948162-G-A |
c.1817G>A |
p.C606Y |
Missense |
17/106 |
- |
3 |
19-38948167-T-TA |
c.1822_1823insA |
p.C608* |
Nonsense |
17/106 |
- |
1 |
19-38948158-CTG-C |
c.1823_1824del |
p.C608* |
Frameshift |
17/106 |
- |
3 |
19-38948168-G-A |
c.1823G>A |
p.C608Y |
Missense |
17/106 |
- |
1 |
19-38948169-T-G |
c.1824T>G |
p.C608W |
Missense |
17/106 |
- |
1 |
19-38948171-A-C |
c.1826A>C |
p.N609T |
Missense |
17/106 |
- |
1 |
19-38948172-T-C |
c.1827T>C |
p.N609= |
Synonymous |
17/106 |
- |
1 |
19-38948173-G-T |
c.1828G>T |
p.G610C |
Missense |
17/106 |
- |
1 |
19-38948174-G-A |
c.1829G>A |
p.G610D |
Missense |
17/106 |
- |
3 |
19-38948175-T-TG |
c.1831dup |
p.V611Gfs*12 |
Frameshift |
17/106 |
- |
1 |
19-38948176-G-A |
c.1831G>A |
p.V611M |
Missense |
17/106 |
- |
1 |
19-38948178-G-A |
c.1833G>A |
p.V611= |
Synonymous |
17/106 |
- |
1 |
19-38948178-G-C |
c.1833G>C |
p.V611= |
Synonymous |
17/106 |
- |
1 |
19-38948178-G-T |
c.1833G>T |
p.V611= |
Synonymous |
17/106 |
- |
1 |
19-38948179-G-A |
c.1834G>A |
p.A612T |
Missense |
17/106 |
- |
1 |
19-38948179-G-C |
c.1834G>C |
p.A612P |
Missense |
17/106 |
- |
1 |
19-38948180-C-A |
c.1835C>A |
p.A612D |
Missense |
17/106 |
- |
2 |
19-38948180-C-T |
c.1835C>T |
p.A612V |
Missense |
17/106 |
- |
1 |
19-38948182-G-C |
c.1837G>C |
p.V613L |
Missense |
17/106 |
- |
1 |
19-38948185-C-G |
c.1840C>G |
p.R614G |
Missense |
17/106 |
- |
5 |
19-38948185-C-T |
c.1840C>T |
p.R614C |
Missense |
17/106 |
- |
59 |
19-38948186-G-A |
c.1841G>A |
p.R614H |
Missense |
17/106 |
- |
3 |
19-38948186-G-T |
c.1841G>T |
p.R614L |
Missense |
17/106 |
- |
15 |
19-38948188-T-C |
c.1843T>C |
p.S615P |
Missense |
17/106 |
- |
1 |
19-38948189-C-G |
c.1844C>G |
p.S615C |
Missense |
17/106 |
- |
2 |
19-38948189-C-T |
c.1844C>T |
p.S615F |
Missense |
17/106 |
- |
1 |
19-38948194-C-T |
c.1849C>T |
p.Q617* |
Nonsense |
17/106 |
- |
1 |
19-38948197-G-A |
c.1852G>A |
p.D618N |
Missense |
17/106 |
- |
2 |
19-38948197-G-T |
c.1852G>T |
p.D618Y |
Missense |
17/106 |
- |
8 |
19-38948199-T-C |
c.1854T>C |
p.D618= |
Synonymous |
17/106 |
- |
1 |
19-38948200-C-G |
c.1855C>G |
p.L619V |
Missense |
17/106 |
- |
1 |
19-38948200-C-T |
c.1855C>T |
p.L619F |
Missense |
17/106 |
- |
1 |
19-38948203-TA-T |
c.1858del |
p.I620Lfs*46 |
Frameshift |
17/106 |
- |
1 |
19-38948207-C-T |
c.1862C>T |
p.T621I |
Missense |
17/106 |
- |
2 |
19-38948208-CT-C |
c.1863del |
p.E622Rfs*44 |
Frameshift |
17/106 |
- |
1 |
19-38948217-G-C |
c.1872G>C |
p.L624F |
Missense |
17/106 |
- |
1 |
19-38948217-G-T |
c.1872G>T |
p.L624F |
Missense |
17/106 |
- |
2 |
19-38948218-C-A |
c.1873C>A |
p.L625M |
Missense |
17/106 |
- |
1 |
19-38948221-C-T |
c.1876C>T |
p.P626S |
Missense |
17/106 |
- |
1 |
19-38948222-C-G |
c.1877C>G |
p.P626R |
Missense |
17/106 |
- |
1 |
19-38948222-C-T |
c.1877C>T |
p.P626L |
Missense |
17/106 |
- |
1 |
19-38948219-TGCCTG-T |
c.1878_1882del |
p.G627* |
Frameshift |
17/106 |
- |
1 |
19-38948223-T-TTAA |
c.1878_1879insTAA |
p.P626_G627ins* |
InFrameInsertion |
17/106 |
- |
1 |
19-38948225-G-A |
c.1880G>A |
p.G627D |
Missense |
17/106 |
- |
1 |
19-38948226-C-A |
c.1881C>A |
p.G627= |
Synonymous |
17/106 |
- |
1 |
19-38948226-C-G |
c.1881C>G |
p.G627= |
Synonymous |
17/106 |
- |
1 |
19-38948226-C-T |
c.1881C>T |
p.G627= |
Synonymous |
17/106 |
- |
1 |
19-38948227-C-T |
c.1882C>T |
p.R628C |
Missense |
17/106 |
- |
5 |
19-38948228-G-A |
c.1883G>A |
p.R628H |
Missense |
17/106 |
- |
2 |
19-38948228-G-T |
c.1883G>T |
p.R628L |
Missense |
17/106 |
- |
1 |
19-38948228-GT-AA |
c.1883_1884delinsAA |
p.R628Q |
Missense |
17/106 |
- |
1 |
19-38948230-G-A |
c.1885G>A |
p.E629K |
Missense |
17/106 |
- |
1 |
19-38948230-G-T |
c.1885G>T |
p.E629* |
Nonsense |
17/106 |
- |
1 |
19-38948232-G-A |
c.1887G>A |
p.E629= |
Synonymous |
17/106 |
- |
1 |
19-38948236-C-T |
c.1891C>T |
p.L631= |
Synonymous |
17/106 |
- |
2 |
19-38948237-T-A |
c.1892T>A |
p.L631Q |
Missense |
17/106 |
- |
6 |
19-38948237-T-G |
c.1892T>G |
p.L631R |
Missense |
17/106 |
- |
1 |
19-38948238-G-A |
c.1893G>A |
p.L631= |
Synonymous |
17/106 |
- |
1 |
19-38948242-C-A |
c.1897C>A |
p.Q633K |
Missense |
17/106 |
- |
1 |
19-38948242-C-T |
c.1897C>T |
p.Q633* |
Nonsense |
17/106 |
- |
1 |
19-38948246-AC-A |
c.1901del |
p.T634Kfs*32 |
Frameshift |
17/106 |
- |
1 |
19-38948246-C-G |
c.1901C>G |
p.T634R |
Missense |
17/106 |
- |
1 |
19-38948249-A-G |
c.1904A>G |
p.N635S |
Missense |
17/106 |
- |
1 |
19-38948251-C-T |
c.1906C>T |
p.L636F |
Missense |
17/106 |
- |
1 |
19-38948253-C-A |
c.1908C>A |
p.L636= |
Synonymous |
17/106 |
- |
1 |
19-38948253-C-G |
c.1908C>G |
p.L636= |
Synonymous |
17/106 |
- |
1 |
19-38948253-C-T |
c.1908C>T |
p.L636= |
Synonymous |
17/106 |
- |
1 |
19-38948254-A-C |
c.1909A>C |
p.I637L |
Missense |
17/106 |
- |
1 |
19-38948254-A-G |
c.1909A>G |
p.I637V |
Missense |
17/106 |
- |
1 |
19-38948258-A-C |
c.1913A>C |
p.N638T |
Missense |
17/106 |
- |
1 |
19-38948263-G-T |
c.1918G>T |
p.V640F |
Missense |
17/106 |
- |
2 |
19-38948264-T-C |
c.1919T>C |
p.V640A |
Missense |
17/106 |
- |
2 |
19-38948267-C-G |
c.1922C>G |
p.T641S |
Missense |
17/106 |
- |
1 |
19-38948268-C-A |
c.1923C>A |
p.T641= |
Synonymous |
17/106 |
- |
1 |
19-38948268-C-G |
c.1923C>G |
p.T641= |
Synonymous |
17/106 |
- |
1 |
19-38948268-C-T |
c.1923C>T |
p.T641= |
Synonymous |
17/106 |
- |
1 |
19-38948269-CAG-C |
c.1924_1925del |
p.S642Hfs*22 |
SpliceDonorDeletion |
17/106 |
- |
1 |
19-38948270-G-T |
c.1925G>T |
p.S642I |
Missense |
17/106 |
- |
1 |
19-38948356-T-C |
c.1925+86T>C |
- |
IntronicSNV |
- |
17/105 |
8 |
19-38948420-C-A |
c.1925+150C>A |
- |
IntronicSNV |
- |
17/105 |
1 |
19-38948420-C-G |
c.1925+150C>G |
- |
IntronicSNV |
- |
17/105 |
1 |
19-38948420-C-T |
c.1925+150C>T |
- |
IntronicSNV |
- |
17/105 |
1 |
19-38948517-C-G |
c.1926-174C>G |
- |
IntronicSNV |
- |
17/105 |
1 |
19-38948693-T-A |
c.1928T>A |
p.I643N |
Missense |
18/106 |
- |
1 |
19-38948694-C-G |
c.1929C>G |
p.I643M |
Missense |
18/106 |
- |
1 |
19-38948694-C-T |
c.1929C>T |
p.I643= |
Synonymous |
18/106 |
- |
1 |
19-38948695-C-T |
c.1930C>T |
p.R644C |
Missense |
18/106 |
- |
4 |
19-38948696-G-A |
c.1931G>A |
p.R644H |
Missense |
18/106 |
- |
2 |
19-38948696-G-T |
c.1931G>T |
p.R644L |
Missense |
18/106 |
- |
5 |
19-38948698-C-T |
c.1933C>T |
p.P645S |
Missense |
18/106 |
- |
1 |
19-38948699-C-T |
c.1934C>T |
p.P645L |
Missense |
18/106 |
- |
1 |
19-38948704-A-T |
c.1939A>T |
p.I647F |
Missense |
18/106 |
- |
1 |
19-38948708-T-C |
c.1943T>C |
p.F648S |
Missense |
18/106 |
- |
2 |
19-38948714-G-T |
c.1949G>T |
p.G650V |
Missense |
18/106 |
- |
1 |
19-38948716-CG-AT |
c.1951_1952delinsAT |
p.R651I |
Missense |
18/106 |
- |
1 |
19-38948716-CGA-TGT |
c.1951_1953delinsTGT |
p.R651C |
Missense |
18/106 |
- |
1 |
19-38948716-C-T |
c.1951C>T |
p.R651* |
Nonsense |
18/106 |
- |
4 |
19-38948717-G-A |
c.1952G>A |
p.R651Q |
Missense |
18/106 |
- |
2 |
19-38948717-GA-AT |
c.1952_1953delinsAT |
p.R651H |
Missense |
18/106 |
- |
1 |
19-38948719-G-A |
c.1954G>A |
p.A652T |
Missense |
18/106 |
- |
1 |
19-38948720-C-A |
c.1955C>A |
p.A652E |
Missense |
18/106 |
- |
2 |
19-38948720-C-G |
c.1955C>G |
p.A652G |
Missense |
18/106 |
- |
1 |
19-38948720-C-T |
c.1955C>T |
p.A652V |
Missense |
18/106 |
- |
4 |
19-38948721-G-A |
c.1956G>A |
p.A652= |
Synonymous |
18/106 |
- |
1 |
19-38948721-G-C |
c.1956G>C |
p.A652= |
Synonymous |
18/106 |
- |
1 |
19-38948721-G-T |
c.1956G>T |
p.A652= |
Synonymous |
18/106 |
- |
1 |
19-38948722-G-A |
c.1957G>A |
p.E653K |
Missense |
18/106 |
- |
1 |
19-38948723-A-G |
c.1958A>G |
p.E653G |
Missense |
18/106 |
- |
2 |
19-38948725-G-A |
c.1960G>A |
p.G654S |
Missense |
18/106 |
- |
2 |
19-38948726-G-A |
c.1961G>A |
p.G654D |
Missense |
18/106 |
- |
3 |
19-38948726-GC-AG |
c.1961_1962delinsAG |
p.G654E |
Missense |
18/106 |
- |
1 |
19-38948727-C-A |
c.1962C>A |
p.G654= |
Synonymous |
18/106 |
- |
1 |
19-38948727-C-G |
c.1962C>G |
p.G654= |
Synonymous |
18/106 |
- |
1 |
19-38948727-C-T |
c.1962C>T |
p.G654= |
Synonymous |
18/106 |
- |
2 |
19-38948728-A-G |
c.1963A>G |
p.T655A |
Missense |
18/106 |
- |
1 |
19-38948729-C-T |
c.1964C>T |
p.T655I |
Missense |
18/106 |
- |
4 |
19-38948732-CG-TC |
c.1967_1968delinsTC |
p.T656I |
Missense |
18/106 |
- |
1 |
19-38948732-C-T |
c.1967C>T |
p.T656M |
Missense |
18/106 |
- |
4 |
19-38948733-G-A |
c.1968G>A |
p.T656= |
Synonymous |
18/106 |
- |
4 |
19-38948733-G-C |
c.1968G>C |
p.T656= |
Synonymous |
18/106 |
- |
3 |
19-38948733-G-T |
c.1968G>T |
p.T656= |
Synonymous |
18/106 |
- |
3 |
19-38948734-C-A |
c.1969C>A |
p.Q657K |
Missense |
18/106 |
- |
1 |
19-38948734-C-T |
c.1969C>T |
p.Q657* |
Nonsense |
18/106 |
- |
1 |
19-38948737-T-C |
c.1972T>C |
p.Y658H |
Missense |
18/106 |
- |
1 |
19-38948741-G-A |
c.1976G>A |
p.S659N |
Missense |
18/106 |
- |
1 |
19-38948740-A-C |
c.1975A>C |
p.S659R |
Missense |
18/106 |
- |
1 |
19-38948742-C-A |
c.1977C>A |
p.S659R |
Missense |
18/106 |
- |
1 |
19-38948742-C-G |
c.1977C>G |
p.S659R |
Missense |
18/106 |
- |
1 |
19-38948747-G-A |
c.1982G>A |
p.W661* |
Nonsense |
18/106 |
- |
1 |
19-38948748-G-A |
c.1983G>A |
p.W661* |
Nonsense |
18/106 |
- |
1 |
19-38948750-A-G |
c.1985A>G |
p.Y662C |
Missense |
18/106 |
- |
1 |
19-38948751-C-A |
c.1986C>A |
p.Y662* |
Nonsense |
18/106 |
- |
1 |
19-38948752-T-C |
c.1987T>C |
p.F663L |
Missense |
18/106 |
- |
3 |
19-38948754-T-A |
c.1989T>A |
p.F663L |
Missense |
18/106 |
- |
1 |
19-38948754-T-G |
c.1989T>G |
p.F663L |
Missense |
18/106 |
- |
1 |
19-38948754-T-C |
c.1989T>C |
p.F663= |
Synonymous |
18/106 |
- |
1 |
19-38948755-G-A |
c.1990G>A |
p.E664K |
Missense |
18/106 |
- |
1 |
19-38948755-G-C |
c.1990G>C |
p.E664Q |
Missense |
18/106 |
- |
4 |
19-38948756-AG-A |
c.1993del |
p.V665* |
Frameshift |
18/106 |
- |
1 |
19-38948758-G-A |
c.1993G>A |
p.V665M |
Missense |
18/106 |
- |
1 |
19-38948763-G-A |
c.1998G>A |
p.M666I |
Missense |
18/106 |
- |
4 |
19-38948763-G-T |
c.1998G>T |
p.M666I |
Missense |
18/106 |
- |
1 |
19-38948764-G-T |
c.1999G>T |
p.V667L |
Missense |
18/106 |
- |
1 |
19-38948766-G-T |
c.2001G>T |
p.V667= |
Synonymous |
18/106 |
- |
1 |
19-38948767-G-C |
c.2002G>C |
p.D668H |
Missense |
18/106 |
- |
1 |
19-38948767-G-T |
c.2002G>T |
p.D668Y |
Missense |
18/106 |
- |
2 |
19-38948769-C-A |
c.2004C>A |
p.D668E |
Missense |
18/106 |
- |
1 |
19-38948769-C-T |
c.2004C>T |
p.D668= |
Synonymous |
18/106 |
- |
4 |
19-38948770-G-A |
c.2005G>A |
p.E669K |
Missense |
18/106 |
- |
2 |
19-38948770-G-T |
c.2005G>T |
p.E669* |
Nonsense |
18/106 |
- |
1 |
19-38948771-A-G |
c.2006A>G |
p.E669G |
Missense |
18/106 |
- |
2 |
19-38948772-G-A |
c.2007G>A |
p.E669= |
Synonymous |
18/106 |
- |
2 |
19-38948773-G-A |
c.2008G>A |
p.V670M |
Missense |
18/106 |
- |
2 |
19-38948774-T-C |
c.2009T>C |
p.V670A |
Missense |
18/106 |
- |
3 |
19-38948777-C-T |
c.2012C>T |
p.T671I |
Missense |
18/106 |
- |
2 |
19-38948777-CT-TG |
c.2012_2013delinsTG |
p.T671M |
Missense |
18/106 |
- |
1 |
19-38948778-T-A |
c.2013T>A |
p.T671= |
Synonymous |
18/106 |
- |
1 |
19-38948778-T-C |
c.2013T>C |
p.T671= |
Synonymous |
18/106 |
- |
1 |
19-38948778-T-G |
c.2013T>G |
p.T671= |
Synonymous |
18/106 |
- |
1 |
19-38948779-C-A |
c.2014C>A |
p.P672T |
Missense |
18/106 |
- |
2 |
19-38948779-C-T |
c.2014C>T |
p.P672S |
Missense |
18/106 |
- |
3 |
19-38948780-C-T |
c.2015C>T |
p.P672L |
Missense |
18/106 |
- |
3 |
19-38948785-C-T |
c.2020C>T |
p.L674= |
Synonymous |
18/106 |
- |
3 |
19-38948785-CTG-TTT |
c.2020_2022delinsTTT |
p.L674F |
Missense |
18/106 |
- |
1 |
19-38948788-A-G |
c.2023A>G |
p.T675A |
Missense |
18/106 |
- |
1 |
19-38948794-C-T |
c.2029C>T |
p.Q677* |
Nonsense |
18/106 |
- |
1 |
19-38948795-A-G |
c.2030A>G |
p.Q677R |
Missense |
18/106 |
- |
1 |
19-38948797-G-A |
c.2032G>A |
p.A678T |
Missense |
18/106 |
- |
2 |
19-38948798-C-T |
c.2033C>T |
p.A678V |
Missense |
18/106 |
- |
1 |
19-38948801-C-T |
c.2036C>T |
p.T679I |
Missense |
18/106 |
- |
2 |
19-38948800-AC-A |
c.2038del |
p.H680Tfs*50 |
Frameshift |
18/106 |
- |
1 |
19-38948804-CACTT-C |
c.2039_2042del |
p.H680Rfs*49 |
Frameshift |
18/106 |
- |
1 |
19-38948806-T-C |
c.2041T>C |
p.L681= |
Synonymous |
18/106 |
- |
2 |
19-38948808-G-A |
c.2043G>A |
p.L681= |
Synonymous |
18/106 |
- |
1 |
19-38948807-T-C |
c.2042T>C |
p.L681S |
Missense |
18/106 |
- |
1 |
19-38948809-C-A |
c.2044C>A |
p.R682= |
Synonymous |
18/106 |
- |
1 |
19-38948809-C-CAAGT |
c.2044_2045insAAGT |
p.R682Qfs*29 |
Frameshift |
18/106 |
- |
1 |
19-38948809-C-G |
c.2044C>G |
p.R682G |
Missense |
18/106 |
- |
3 |
19-38948809-CGG-TGT |
c.2044_2046delinsTGT |
p.R682C |
Missense |
18/106 |
- |
1 |
19-38948809-CG-TA |
c.2044_2045delinsTA |
p.R682* |
Nonsense |
18/106 |
- |
2 |
19-38948809-C-T |
c.2044C>T |
p.R682W |
Missense |
18/106 |
- |
2 |
19-38948810-G-A |
c.2045G>A |
p.R682Q |
Missense |
18/106 |
- |
1 |
19-38948810-G-C |
c.2045G>C |
p.R682P |
Missense |
18/106 |
- |
1 |
19-38948810-GG-AT |
c.2045_2046delinsAT |
p.R682H |
Missense |
18/106 |
- |
1 |
19-38948812-G-A |
c.2047G>A |
p.V683M |
Missense |
18/106 |
- |
3 |
19-38948814-G-A |
c.2049G>A |
p.V683= |
Synonymous |
18/106 |
- |
1 |
19-38948816-G-C |
c.2051G>C |
p.G684A |
Missense |
18/106 |
- |
2 |
19-38948817-C-T |
c.2052C>T |
p.G684= |
Synonymous |
18/106 |
- |
2 |
19-38948819-G-A |
c.2054G>A |
p.W685* |
Nonsense |
18/106 |
- |
1 |
19-38948819-G-T |
c.2054G>T |
p.W685L |
Missense |
18/106 |
- |
1 |
19-38948823-C-T |
c.2058C>T |
p.A686= |
Synonymous |
18/106 |
- |
3 |
19-38948824-C-T |
c.2059C>T |
p.L687F |
Missense |
18/106 |
- |
1 |
19-38948825-T-C |
c.2060T>C |
p.L687P |
Missense |
18/106 |
- |
1 |
19-38948826-C-T |
c.2061C>T |
p.L687= |
Synonymous |
18/106 |
- |
1 |
19-38948829-C-A |
c.2064C>A |
p.T688= |
Synonymous |
18/106 |
- |
3 |
19-38948829-C-G |
c.2064C>G |
p.T688= |
Synonymous |
18/106 |
- |
1 |
19-38948829-C-T |
c.2064C>T |
p.T688= |
Synonymous |
18/106 |
- |
3 |
19-38948830-G-A |
c.2065G>A |
p.E689K |
Missense |
18/106 |
- |
3 |
19-38948832-G-T |
c.2067G>T |
p.E689D |
Missense |
18/106 |
- |
1 |
19-38948833-G-A |
c.2068G>A |
p.G690S |
Missense |
18/106 |
- |
1 |
19-38948833-G-C |
c.2068G>C |
p.G690R |
Missense |
18/106 |
- |
1 |
19-38948833-G-T |
c.2068G>T |
p.G690C |
Missense |
18/106 |
- |
1 |
19-38948835-C-T |
c.2070C>T |
p.G690= |
Synonymous |
18/106 |
- |
1 |
19-38948838-C-T |
c.2073C>T |
p.Y691= |
Synonymous |
18/106 |
- |
1 |
19-38948840-C-T |
c.2075C>T |
p.T692I |
Missense |
18/106 |
- |
1 |
19-38948842-C-T |
c.2077C>T |
p.P693S |
Missense |
18/106 |
- |
7 |
19-38948843-C-A |
c.2078C>A |
p.P693H |
Missense |
18/106 |
- |
1 |
19-38948843-C-G |
c.2078C>G |
p.P693R |
Missense |
18/106 |
- |
1 |
19-38948843-C-T |
c.2078C>T |
p.P693L |
Missense |
18/106 |
- |
3 |
19-38948846-A-C |
c.2081A>C |
p.Y694S |
Missense |
18/106 |
- |
1 |
19-38948847-C-A |
c.2082C>A |
p.Y694* |
Nonsense |
18/106 |
- |
1 |
19-38948847-C-G |
c.2082C>G |
p.Y694* |
Nonsense |
18/106 |
- |
1 |
19-38948849-C-A |
c.2084C>A |
p.P695H |
Missense |
18/106 |
- |
3 |
19-38948851-G-A |
c.2086G>A |
p.G696R |
Missense |
18/106 |
- |
1 |
19-38948851-G-T |
c.2086G>T |
p.G696W |
Missense |
18/106 |
- |
1 |
19-38948852-G-A |
c.2087G>A |
p.G696E |
Missense |
18/106 |
- |
1 |
19-38948852-G-T |
c.2087G>T |
p.G696V |
Missense |
18/106 |
- |
1 |
19-38948853-G-A |
c.2088G>A |
p.G696= |
Synonymous |
18/106 |
- |
3 |
19-38948855-C-T |
c.2090C>T |
p.A697V |
Missense |
18/106 |
- |
1 |
19-38948856-C-A |
c.2091C>A |
p.A697= |
Synonymous |
18/106 |
- |
2 |
19-38948856-C-G |
c.2091C>G |
p.A697= |
Synonymous |
18/106 |
- |
2 |
19-38948856-C-T |
c.2091C>T |
p.A697= |
Synonymous |
18/106 |
- |
3 |
19-38948857-G-A |
c.2092G>A |
p.G698S |
Missense |
18/106 |
- |
2 |
19-38948857-G-C |
c.2092G>C |
p.G698R |
Missense |
18/106 |
- |
1 |
19-38948859-C-A |
c.2094C>A |
p.G698= |
Synonymous |
18/106 |
- |
1 |
19-38948859-C-G |
c.2094C>G |
p.G698= |
Synonymous |
18/106 |
- |
2 |
19-38948859-C-T |
c.2094C>T |
p.G698= |
Synonymous |
18/106 |
- |
1 |
19-38948860-G-A |
c.2095G>A |
p.E699K |
Missense |
18/106 |
- |
1 |
19-38948860-GAG-AAC |
c.2095_2097delinsAAC |
p.E699N |
Missense |
18/106 |
- |
1 |
19-38948860-G-C |
c.2095G>C |
p.E699Q |
Missense |
18/106 |
- |
1 |
19-38948855-CCGGCGAGGGCTGGGGCGGCAACGGGGT-C |
c.2097_2123del |
p.E699_G707del |
InFrameDeletion |
18/106 |
- |
2 |
19-38948862-G-C |
c.2097G>C |
p.E699D |
Missense |
18/106 |
- |
1 |
19-38948862-G-T |
c.2097G>T |
p.E699D |
Missense |
18/106 |
- |
1 |
19-38948863-G-A |
c.2098G>A |
p.G700S |
Missense |
18/106 |
- |
1 |
19-38948866-CT-C |
c.2101del |
p.W701Gfs*29 |
Frameshift |
18/106 |
- |
1 |
19-38948871-C-A |
c.2106C>A |
p.G702= |
Synonymous |
18/106 |
- |
1 |
19-38948871-C-G |
c.2106C>G |
p.G702= |
Synonymous |
18/106 |
- |
1 |
19-38948871-C-T |
c.2106C>T |
p.G702= |
Synonymous |
18/106 |
- |
4 |
19-38948873-G-A |
c.2108G>A |
p.G703D |
Missense |
18/106 |
- |
2 |
19-38948873-G-T |
c.2108G>T |
p.G703V |
Missense |
18/106 |
- |
1 |
19-38948874-C-A |
c.2109C>A |
p.G703= |
Synonymous |
18/106 |
- |
1 |
19-38948874-C-G |
c.2109C>G |
p.G703= |
Synonymous |
18/106 |
- |
1 |
19-38948874-C-T |
c.2109C>T |
p.G703= |
Synonymous |
18/106 |
- |
1 |
19-38948875-A-G |
c.2110A>G |
p.N704D |
Missense |
18/106 |
- |
4 |
19-38948876-A-G |
c.2111A>G |
p.N704S |
Missense |
18/106 |
- |
1 |
19-38948878-G-C |
c.2113G>C |
p.G705R |
Missense |
18/106 |
- |
1 |
19-38948878-G-T |
c.2113G>T |
p.G705W |
Missense |
18/106 |
- |
1 |
19-38948879-G-A |
c.2114G>A |
p.G705E |
Missense |
18/106 |
- |
1 |
19-38948880-G-A |
c.2115G>A |
p.G705= |
Synonymous |
18/106 |
- |
2 |
19-38948880-G-C |
c.2115G>C |
p.G705= |
Synonymous |
18/106 |
- |
2 |
19-38948880-G-T |
c.2115G>T |
p.G705= |
Synonymous |
18/106 |
- |
4 |
19-38948881-G-A |
c.2116G>A |
p.V706I |
Missense |
18/106 |
- |
1 |
19-38948881-G-T |
c.2116G>T |
p.V706F |
Missense |
18/106 |
- |
2 |
19-38948883-C-A |
c.2118C>A |
p.V706= |
Synonymous |
18/106 |
- |
1 |
19-38948883-C-G |
c.2118C>G |
p.V706= |
Synonymous |
18/106 |
- |
1 |
19-38948883-C-T |
c.2118C>T |
p.V706= |
Synonymous |
18/106 |
- |
3 |
19-38948884-G-A |
c.2119G>A |
p.G707S |
Missense |
18/106 |
- |
3 |
19-38948882-TCGG-T |
c.2120_2122del |
p.G707del |
InFrameDeletion |
18/106 |
- |
1 |
19-38948886-C-A |
c.2121C>A |
p.G707= |
Synonymous |
18/106 |
- |
4 |
19-38948886-C-G |
c.2121C>G |
p.G707= |
Synonymous |
18/106 |
- |
2 |
19-38948886-C-T |
c.2121C>T |
p.G707= |
Synonymous |
18/106 |
- |
2 |
19-38948887-G-A |
c.2122G>A |
p.D708N |
Missense |
18/106 |
- |
22 |
19-38948890-G-A |
c.2125G>A |
p.D709N |
Missense |
18/106 |
- |
2 |
19-38948890-G-T |
c.2125G>T |
p.D709Y |
Missense |
18/106 |
- |
2 |
19-38948891-A-G |
c.2126A>G |
p.D709G |
Missense |
18/106 |
- |
1 |
19-38948891-A-T |
c.2126A>T |
p.D709V |
Missense |
18/106 |
- |
1 |
19-38948892-C-T |
c.2127C>T |
p.D709= |
Synonymous |
18/106 |
- |
1 |
19-38948899-T-A |
c.2134T>A |
p.S712T |
Missense |
18/106 |
- |
1 |
19-38948901-C-A |
c.2136C>A |
p.S712= |
Synonymous |
18/106 |
- |
2 |
19-38948901-C-G |
c.2136C>G |
p.S712= |
Synonymous |
18/106 |
- |
2 |
19-38948901-C-T |
c.2136C>T |
p.S712= |
Synonymous |
18/106 |
- |
3 |
19-38948904-C-A |
c.2139C>A |
p.Y713* |
Nonsense |
18/106 |
- |
1 |
19-38948905-G-A |
c.2140G>A |
p.G714S |
Missense |
18/106 |
- |
3 |
19-38948906-G-A |
c.2141G>A |
p.G714D |
Missense |
18/106 |
- |
3 |
19-38948907-C-A |
c.2142C>A |
p.G714= |
Synonymous |
18/106 |
- |
1 |
19-38948907-C-G |
c.2142C>G |
p.G714= |
Synonymous |
18/106 |
- |
1 |
19-38948907-C-T |
c.2142C>T |
p.G714= |
Synonymous |
18/106 |
- |
1 |
19-38948913-T-A |
c.2148T>A |
p.D716E |
Missense |
18/106 |
- |
3 |
19-38948913-T-G |
c.2148T>G |
p.D716E |
Missense |
18/106 |
- |
2 |
19-38948914-G-A |
c.2149G>A |
p.G717R |
Missense |
18/106 |
- |
2 |
19-38948914-G-C |
c.2149G>C |
p.G717R |
Missense |
18/106 |
- |
1 |
19-38948914-GGA-AGC |
c.2149_2151delinsAGC |
p.G717S |
Missense |
18/106 |
- |
1 |
19-38948914-G-T |
c.2149G>T |
p.G717* |
Nonsense |
18/106 |
- |
1 |
19-38948916-GA-G |
c.2151del |
p.L718Cfs*12 |
Frameshift |
18/106 |
- |
1 |
19-38948917-CTG-TTT |
c.2152_2154delinsTTT |
p.L718F |
Missense |
18/106 |
- |
1 |
19-38948920-C-A |
c.2155C>A |
p.H719N |
Missense |
18/106 |
- |
2 |
19-38948921-A-G |
c.2156A>G |
p.H719R |
Missense |
18/106 |
- |
2 |
19-38948923-C-T |
c.2158C>T |
p.L720F |
Missense |
18/106 |
- |
5 |
19-38948925-C-A |
c.2160C>A |
p.L720= |
Synonymous |
18/106 |
- |
1 |
19-38948925-C-G |
c.2160C>G |
p.L720= |
Synonymous |
18/106 |
- |
1 |
19-38948925-C-T |
c.2160C>T |
p.L720= |
Synonymous |
18/106 |
- |
1 |
19-38948926-T-A |
c.2161T>A |
p.W721R |
Missense |
18/106 |
- |
1 |
19-38948926-T-C |
c.2161T>C |
p.W721R |
Missense |
18/106 |
- |
1 |
19-38948930-C-A |
c.2165C>A |
p.T722K |
Missense |
18/106 |
- |
1 |
19-38948932-G-A |
c.2167G>A |
p.G723R |
Missense |
18/106 |
- |
3 |
19-38948932-G-C |
c.2167G>C |
p.G723R |
Missense |
18/106 |
- |
1 |
19-38948934-T-C |
c.2167+2T>C |
- |
IntronicSNV |
- |
18/105 |
2 |
19-38948963-C-G |
c.2167+31C>G |
- |
IntronicSNV |
- |
18/105 |
9 |
19-38949011-G-T |
c.2167+79G>T |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949253-T-A |
c.2167+321T>A |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949254-G-T |
c.2167+322G>T |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949346-C-T |
c.2167+414C>T |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949414-A-G |
c.2168-372A>G |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949505-C-T |
c.2168-281C>T |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949591-C-T |
c.2168-195C>T |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949729-T-G |
c.2168-57T>G |
- |
IntronicSNV |
- |
18/105 |
7 |
19-38949756-C-T |
c.2168-30C>T |
- |
IntronicSNV |
- |
18/105 |
1 |
19-38949786-G-A |
c.2168G>A |
p.G723E |
Missense |
19/106 |
- |
1 |
19-38949790-C-T |
c.2172C>T |
p.H724= |
Synonymous |
19/106 |
- |
1 |
19-38949791-G-A |
c.2173G>A |
p.V725M |
Missense |
19/106 |
- |
3 |
19-38949792-T-A |
c.2174T>A |
p.V725E |
Missense |
19/106 |
- |
1 |
19-38949794-G-A |
c.2176G>A |
p.A726T |
Missense |
19/106 |
- |
1 |
19-38949797-C-A |
c.2179C>A |
p.R727S |
Missense |
19/106 |
- |
1 |
19-38949797-CG-AT |
c.2179_2180delinsAT |
p.R727I |
Missense |
19/106 |
- |
1 |
19-38949797-CGC-AAG |
c.2179_2181delinsAAG |
p.R727K |
Missense |
19/106 |
- |
1 |
19-38949797-C-T |
c.2179C>T |
p.R727C |
Missense |
19/106 |
- |
8 |
19-38949798-G-A |
c.2180G>A |
p.R727H |
Missense |
19/106 |
- |
2 |
19-38949798-G-T |
c.2180G>T |
p.R727L |
Missense |
19/106 |
- |
1 |
19-38949800-C-G |
c.2182C>G |
p.P728A |
Missense |
19/106 |
- |
2 |
19-38949800-C-T |
c.2182C>T |
p.P728S |
Missense |
19/106 |
- |
1 |
19-38949803-G-C |
c.2185G>C |
p.V729L |
Missense |
19/106 |
- |
2 |
19-38949803-G-T |
c.2185G>T |
p.V729L |
Missense |
19/106 |
- |
4 |
19-38949807-C-T |
c.2189C>T |
p.T730I |
Missense |
19/106 |
- |
1 |
19-38949810-C-A |
c.2192C>A |
p.S731Y |
Missense |
19/106 |
- |
1 |
19-38949810-C-T |
c.2192C>T |
p.S731F |
Missense |
19/106 |
- |
4 |
19-38949818-C-T |
c.2200C>T |
p.Q734* |
Nonsense |
19/106 |
- |
1 |
19-38949819-A-T |
c.2201A>T |
p.Q734L |
Missense |
19/106 |
- |
1 |
19-38949820-G-A |
c.2202G>A |
p.Q734= |
Synonymous |
19/106 |
- |
2 |
19-38949821-C-T |
c.2203C>T |
p.H735Y |
Missense |
19/106 |
- |
3 |
19-38949822-A-C |
c.2204A>C |
p.H735P |
Missense |
19/106 |
- |
1 |
19-38949824-C-G |
c.2206C>G |
p.L736V |
Missense |
19/106 |
- |
1 |
19-38949824-C-T |
c.2206C>T |
p.L736F |
Missense |
19/106 |
- |
2 |
19-38949826-C-T |
c.2208C>T |
p.L736= |
Synonymous |
19/106 |
- |
2 |
19-38949830-G-A |
c.2212G>A |
p.A738T |
Missense |
19/106 |
- |
1 |
19-38949833-C-G |
c.2215C>G |
p.P739A |
Missense |
19/106 |
- |
1 |
19-38949833-C-T |
c.2215C>T |
p.P739S |
Missense |
19/106 |
- |
1 |
19-38949834-C-T |
c.2216C>T |
p.P739L |
Missense |
19/106 |
- |
1 |
19-38949835-T-A |
c.2217T>A |
p.P739= |
Synonymous |
19/106 |
- |
1 |
19-38949835-T-C |
c.2217T>C |
p.P739= |
Synonymous |
19/106 |
- |
1 |
19-38949835-T-G |
c.2217T>G |
p.P739= |
Synonymous |
19/106 |
- |
1 |
19-38949836-G-T |
c.2218G>T |
p.E740* |
Nonsense |
19/106 |
- |
1 |
19-38949839-G-T |
c.2221G>T |
p.D741Y |
Missense |
19/106 |
- |
1 |
19-38949841-C-T |
c.2223C>T |
p.D741= |
Synonymous |
19/106 |
- |
1 |
19-38949842-G-A |
c.2224G>A |
p.V742M |
Missense |
19/106 |
- |
2 |
19-38949843-T-G |
c.2225T>G |
p.V742G |
Missense |
19/106 |
- |
1 |
19-38949844-G-A |
c.2226G>A |
p.V742= |
Synonymous |
19/106 |
- |
1 |
19-38949845-A-G |
c.2227A>G |
p.I743V |
Missense |
19/106 |
- |
2 |
19-38949847-C-T |
c.2229C>T |
p.I743= |
Synonymous |
19/106 |
- |
2 |
19-38949850-C-T |
c.2232C>T |
p.S744= |
Synonymous |
19/106 |
- |
1 |
19-38949851-TG-AC |
c.2233_2234delinsAC |
p.C745T |
Missense |
19/106 |
- |
1 |
19-38949854-T-G |
c.2236T>G |
p.C746G |
Missense |
19/106 |
- |
1 |
19-38949854-TG-AC |
c.2236_2237delinsAC |
p.C746T |
Missense |
19/106 |
- |
1 |
19-38949856-C-T |
c.2238C>T |
p.C746= |
Synonymous |
19/106 |
- |
1 |
19-38949857-C-T |
c.2239C>T |
p.L747= |
Synonymous |
19/106 |
- |
2 |
19-38949859-G-A |
c.2241G>A |
p.L747= |
Synonymous |
19/106 |
- |
4 |
19-38949859-G-C |
c.2241G>C |
p.L747= |
Synonymous |
19/106 |
- |
2 |
19-38949859-G-T |
c.2241G>T |
p.L747= |
Synonymous |
19/106 |
- |
2 |
19-38949860-G-A |
c.2242G>A |
p.D748N |
Missense |
19/106 |
- |
2 |
19-38949863-C-G |
c.2245C>G |
p.L749V |
Missense |
19/106 |
- |
2 |
19-38949864-T-C |
c.2246T>C |
p.L749P |
Missense |
19/106 |
- |
1 |
19-38949865-C-A |
c.2247C>A |
p.L749= |
Synonymous |
19/106 |
- |
2 |
19-38949865-C-G |
c.2247C>G |
p.L749= |
Synonymous |
19/106 |
- |
2 |
19-38949865-C-T |
c.2247C>T |
p.L749= |
Synonymous |
19/106 |
- |
3 |
19-38949866-A-G |
c.2248A>G |
p.S750G |
Missense |
19/106 |
- |
1 |
19-38949867-G-A |
c.2249G>A |
p.S750N |
Missense |
19/106 |
- |
1 |
19-38949869-G-A |
c.2251G>A |
p.V751M |
Missense |
19/106 |
- |
2 |
19-38949869-G-C |
c.2251G>C |
p.V751L |
Missense |
19/106 |
- |
2 |
19-38949869-G-T |
c.2251G>T |
p.V751L |
Missense |
19/106 |
- |
2 |
19-38949872-C-T |
c.2254C>T |
p.P752S |
Missense |
19/106 |
- |
2 |
19-38949873-C-A |
c.2255C>A |
p.P752Q |
Missense |
19/106 |
- |
2 |
19-38949873-C-T |
c.2255C>T |
p.P752L |
Missense |
19/106 |
- |
2 |
19-38949874-G-A |
c.2256G>A |
p.P752= |
Synonymous |
19/106 |
- |
3 |
19-38949874-G-C |
c.2256G>C |
p.P752= |
Synonymous |
19/106 |
- |
1 |
19-38949874-G-T |
c.2256G>T |
p.P752= |
Synonymous |
19/106 |
- |
1 |
19-38949875-T-C |
c.2257T>C |
p.S753P |
Missense |
19/106 |
- |
1 |
19-38949877-C-A |
c.2259C>A |
p.S753= |
Synonymous |
19/106 |
- |
2 |
19-38949877-C-G |
c.2259C>G |
p.S753= |
Synonymous |
19/106 |
- |
4 |
19-38949877-C-T |
c.2259C>T |
p.S753= |
Synonymous |
19/106 |
- |
2 |
19-38949878-A-G |
c.2260A>G |
p.I754V |
Missense |
19/106 |
- |
2 |
19-38949878-ATC-A |
c.2263_2264del |
p.S755Lfs*13 |
Frameshift |
19/106 |
- |
1 |
19-38949882-C-A |
c.2264C>A |
p.S755Y |
Missense |
19/106 |
- |
1 |
19-38949885-T-C |
c.2267T>C |
p.F756S |
Missense |
19/106 |
- |
1 |
19-38949887-C-A |
c.2269C>A |
p.R757S |
Missense |
19/106 |
- |
2 |
19-38949887-C-G |
c.2269C>G |
p.R757G |
Missense |
19/106 |
- |
4 |
19-38949887-C-T |
c.2269C>T |
p.R757C |
Missense |
19/106 |
- |
6 |
19-38949888-G-A |
c.2270G>A |
p.R757H |
Missense |
19/106 |
- |
11 |
19-38949888-GC-AA |
c.2270_2271delinsAA |
p.R757Q |
Missense |
19/106 |
- |
1 |
19-38949893-A-G |
c.2275A>G |
p.N759D |
Missense |
19/106 |
- |
8 |
19-38949896-G-A |
c.2278G>A |
p.G760S |
Missense |
19/106 |
- |
1 |
19-38949898-C-A |
c.2280C>A |
p.G760= |
Synonymous |
19/106 |
- |
2 |
19-38949898-C-G |
c.2280C>G |
p.G760= |
Synonymous |
19/106 |
- |
2 |
19-38949898-C-T |
c.2280C>T |
p.G760= |
Synonymous |
19/106 |
- |
3 |
19-38949899-CT-C |
c.2281del |
p.C761Afs*123 |
Frameshift |
19/106 |
- |
1 |
19-38949901-C-G |
c.2283C>G |
p.C761W |
Missense |
19/106 |
- |
1 |
19-38949900-GC-G |
c.2286del |
p.V763Cfs*121 |
Frameshift |
19/106 |
- |
1 |
19-38949904-C-A |
c.2286C>A |
p.P762= |
Synonymous |
19/106 |
- |
2 |
19-38949904-C-G |
c.2286C>G |
p.P762= |
Synonymous |
19/106 |
- |
2 |
19-38949904-C-T |
c.2286C>T |
p.P762= |
Synonymous |
19/106 |
- |
31 |
19-38949905-G-A |
c.2287G>A |
p.V763M |
Missense |
19/106 |
- |
6 |
19-38949905-G-T |
c.2287G>T |
p.V763L |
Missense |
19/106 |
- |
1 |
19-38949906-T-A |
c.2288T>A |
p.V763E |
Missense |
19/106 |
- |
1 |
19-38949908-C-T |
c.2290C>T |
p.Q764* |
Nonsense |
19/106 |
- |
2 |
19-38949909-A-G |
c.2291A>G |
p.Q764R |
Missense |
19/106 |
- |
1 |
19-38949910-G-C |
c.2292G>C |
p.Q764H |
Missense |
19/106 |
- |
1 |
19-38949912-G-A |
c.2294G>A |
p.G765D |
Missense |
19/106 |
- |
2 |
19-38949913-T-A |
c.2295T>A |
p.G765= |
Synonymous |
19/106 |
- |
2 |
19-38949913-T-C |
c.2295T>C |
p.G765= |
Synonymous |
19/106 |
- |
2 |
19-38949913-T-G |
c.2295T>G |
p.G765= |
Synonymous |
19/106 |
- |
2 |
19-38949914-G-T |
c.2296G>T |
p.V766F |
Missense |
19/106 |
- |
1 |
19-38949920-G-A |
c.2302G>A |
p.E768K |
Missense |
19/106 |
- |
3 |
19-38949921-A-G |
c.2303A>G |
p.E768G |
Missense |
19/106 |
- |
5 |
19-38949922-G-C |
c.2304G>C |
p.E768D |
Missense |
19/106 |
- |
1 |
19-38949925-C-A |
c.2307C>A |
p.S769= |
Synonymous |
19/106 |
- |
1 |
19-38949925-C-G |
c.2307C>G |
p.S769= |
Synonymous |
19/106 |
- |
1 |
19-38949925-C-T |
c.2307C>T |
p.S769= |
Synonymous |
19/106 |
- |
4 |
19-38949930-A-G |
c.2312A>G |
p.N771S |
Missense |
19/106 |
- |
1 |
19-38949930-A-T |
c.2312A>T |
p.N771I |
Missense |
19/106 |
- |
1 |
19-38949932-C-T |
c.2314C>T |
p.L772= |
Synonymous |
19/106 |
- |
3 |
19-38949934-G-A |
c.2316G>A |
p.L772= |
Synonymous |
19/106 |
- |
5 |
19-38949934-G-C |
c.2316G>C |
p.L772= |
Synonymous |
19/106 |
- |
2 |
19-38949934-G-T |
c.2316G>T |
p.L772= |
Synonymous |
19/106 |
- |
2 |
19-38949935-G-A |
c.2317G>A |
p.D773N |
Missense |
19/106 |
- |
1 |
19-38949935-G-T |
c.2317G>T |
p.D773Y |
Missense |
19/106 |
- |
2 |
19-38949937-C-T |
c.2319C>T |
p.D773= |
Synonymous |
19/106 |
- |
2 |
19-38949938-G-A |
c.2320G>A |
p.G774R |
Missense |
19/106 |
- |
4 |
19-38949938-G-C |
c.2320G>C |
p.G774R |
Missense |
19/106 |
- |
1 |
19-38949939-G-A |
c.2321G>A |
p.G774E |
Missense |
19/106 |
- |
9 |
19-38949943-C-G |
c.2325C>G |
p.L775= |
Synonymous |
19/106 |
- |
1 |
19-38949946-C-G |
c.2328C>G |
p.F776L |
Missense |
19/106 |
- |
1 |
19-38949946-C-T |
c.2328C>T |
p.F776= |
Synonymous |
19/106 |
- |
1 |
19-38949949-C-T |
c.2331C>T |
p.F777= |
Synonymous |
19/106 |
- |
3 |
19-38949950-C-A |
c.2332C>A |
p.P778T |
Missense |
19/106 |
- |
1 |
19-38949950-C-G |
c.2332C>G |
p.P778A |
Missense |
19/106 |
- |
1 |
19-38949951-C-T |
c.2333C>T |
p.P778L |
Missense |
19/106 |
- |
1 |
19-38949953-GTT-ATG |
c.2335_2337delinsATG |
p.V779M |
Missense |
19/106 |
- |
1 |
19-38949954-T-C |
c.2336T>C |
p.V779A |
Missense |
19/106 |
- |
1 |
19-38949954-T-G |
c.2336T>G |
p.V779G |
Missense |
19/106 |
- |
1 |
19-38949955-T-A |
c.2337T>A |
p.V779= |
Synonymous |
19/106 |
- |
1 |
19-38949955-T-C |
c.2337T>C |
p.V779= |
Synonymous |
19/106 |
- |
1 |
19-38949955-T-G |
c.2337T>G |
p.V779= |
Synonymous |
19/106 |
- |
1 |
19-38949958-C-A |
c.2340C>A |
p.V780= |
Synonymous |
19/106 |
- |
2 |
19-38949958-C-G |
c.2340C>G |
p.V780= |
Synonymous |
19/106 |
- |
2 |
19-38949958-C-T |
c.2340C>T |
p.V780= |
Synonymous |
19/106 |
- |
2 |
19-38949960-G-A |
c.2342G>A |
p.S781N |
Missense |
19/106 |
- |
1 |
19-38949959-A-C |
c.2341A>C |
p.S781R |
Missense |
19/106 |
- |
1 |
19-38949961-C-A |
c.2343C>A |
p.S781R |
Missense |
19/106 |
- |
2 |
19-38949961-C-G |
c.2343C>G |
p.S781R |
Missense |
19/106 |
- |
1 |
19-38949961-C-T |
c.2343C>T |
p.S781= |
Synonymous |
19/106 |
- |
1 |
19-38949965-T-C |
c.2347T>C |
p.S783P |
Missense |
19/106 |
- |
1 |
19-38949965-TC-AT |
c.2347_2348delinsAT |
p.S783M |
Missense |
19/106 |
- |
1 |
19-38949966-C-T |
c.2348C>T |
p.S783L |
Missense |
19/106 |
- |
4 |
19-38949967-G-A |
c.2349G>A |
p.S783= |
Synonymous |
19/106 |
- |
2 |
19-38949967-G-C |
c.2349G>C |
p.S783= |
Synonymous |
19/106 |
- |
2 |
19-38949967-G-T |
c.2349G>T |
p.S783= |
Synonymous |
19/106 |
- |
2 |
19-38949968-G-A |
c.2350G>A |
p.A784T |
Missense |
19/106 |
- |
5 |
19-38949974-G-A |
c.2356G>A |
p.V786I |
Missense |
19/106 |
- |
2 |
19-38949977-A-T |
c.2359A>T |
p.K787* |
Nonsense |
19/106 |
- |
1 |
19-38950072-G-A |
c.2360+94G>A |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38950390-A-C |
c.2360+412A>C |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38950393-G-A |
c.2360+415G>A |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38950531-G-A |
c.2361-484G>A |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38950947-C-T |
c.2361-68C>T |
- |
IntronicSNV |
- |
19/105 |
7 |
19-38951014-G-A |
c.2361-1G>A |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38951014-G-C |
c.2361-1G>C |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38951014-G-T |
c.2361-1G>T |
- |
IntronicSNV |
- |
19/105 |
1 |
19-38951013-AG-A |
c.2362del |
p.V788Cfs*96 |
Frameshift |
20/106 |
- |
2 |
19-38951016-G-A |
c.2362G>A |
p.V788M |
Missense |
20/106 |
- |
1 |
19-38951017-T-A |
c.2363T>A |
p.V788E |
Missense |
20/106 |
- |
2 |
19-38951018-G-A |
c.2364G>A |
p.V788= |
Synonymous |
20/106 |
- |
1 |
19-38951019-CGG-AGC |
c.2365_2367delinsAGC |
p.R789S |
Missense |
20/106 |
- |
1 |
19-38951019-C-T |
c.2365C>T |
p.R789W |
Missense |
20/106 |
- |
9 |
19-38951020-G-A |
c.2366G>A |
p.R789Q |
Missense |
20/106 |
- |
9 |
19-38951020-G-T |
c.2366G>T |
p.R789L |
Missense |
20/106 |
- |
1 |
19-38951022-T-C |
c.2368T>C |
p.F790L |
Missense |
20/106 |
- |
1 |
19-38951024-C-T |
c.2370C>T |
p.F790= |
Synonymous |
20/106 |
- |
3 |
19-38951025-C-A |
c.2371C>A |
p.L791I |
Missense |
20/106 |
- |
1 |
19-38951025-C-T |
c.2371C>T |
p.L791F |
Missense |
20/106 |
- |
3 |
19-38951026-T-A |
c.2372T>A |
p.L791H |
Missense |
20/106 |
- |
1 |
19-38951027-C-T |
c.2373C>T |
p.L791= |
Synonymous |
20/106 |
- |
1 |
19-38951028-C-T |
c.2374C>T |
p.L792F |
Missense |
20/106 |
- |
4 |
19-38951031-G-T |
c.2377G>T |
p.G793C |
Missense |
20/106 |
- |
1 |
19-38951030-TG-T |
c.2378del |
p.G793Vfs*91 |
Frameshift |
20/106 |
- |
1 |
19-38951032-G-T |
c.2378G>T |
p.G793V |
Missense |
20/106 |
- |
1 |
19-38951034-G-T |
c.2380G>T |
p.G794C |
Missense |
20/106 |
- |
1 |
19-38951036-C-A |
c.2382C>A |
p.G794= |
Synonymous |
20/106 |
- |
3 |
19-38951036-C-G |
c.2382C>G |
p.G794= |
Synonymous |
20/106 |
- |
4 |
19-38951036-C-T |
c.2382C>T |
p.G794= |
Synonymous |
20/106 |
- |
3 |
19-38951037-C-T |
c.2383C>T |
p.R795C |
Missense |
20/106 |
- |
4 |
19-38951038-G-A |
c.2384G>A |
p.R795H |
Missense |
20/106 |
- |
9 |
19-38951038-G-C |
c.2384G>C |
p.R795P |
Missense |
20/106 |
- |
1 |
19-38951038-GC-AA |
c.2384_2385delinsAA |
p.R795Q |
Missense |
20/106 |
- |
1 |
19-38951038-G-T |
c.2384G>T |
p.R795L |
Missense |
20/106 |
- |
1 |
19-38951039-C-A |
c.2385C>A |
p.R795= |
Synonymous |
20/106 |
- |
1 |
19-38951039-C-G |
c.2385C>G |
p.R795= |
Synonymous |
20/106 |
- |
1 |
19-38951039-C-T |
c.2385C>T |
p.R795= |
Synonymous |
20/106 |
- |
1 |
19-38951047-A-G |
c.2393A>G |
p.E798G |
Missense |
20/106 |
- |
3 |
19-38951050-T-A |
c.2396T>A |
p.F799Y |
Missense |
20/106 |
- |
2 |
19-38951053-A-G |
c.2399A>G |
p.K800R |
Missense |
20/106 |
- |
1 |
19-38951054-G-A |
c.2400G>A |
p.K800= |
Synonymous |
20/106 |
- |
1 |
19-38951055-T-C |
c.2401T>C |
p.F801L |
Missense |
20/106 |
- |
1 |
19-38951057-C-A |
c.2403C>A |
p.F801L |
Missense |
20/106 |
- |
1 |
19-38951057-C-G |
c.2403C>G |
p.F801L |
Missense |
20/106 |
- |
3 |
19-38951057-C-T |
c.2403C>T |
p.F801= |
Synonymous |
20/106 |
- |
2 |
19-38951058-C-T |
c.2404C>T |
p.L802= |
Synonymous |
20/106 |
- |
2 |
19-38951061-C-T |
c.2407C>T |
p.P803S |
Missense |
20/106 |
- |
1 |
19-38951063-C-A |
c.2409C>A |
p.P803= |
Synonymous |
20/106 |
- |
1 |
19-38951065-C-T |
c.2411C>T |
p.P804L |
Missense |
20/106 |
- |
1 |
19-38951066-A-T |
c.2412A>T |
p.P804= |
Synonymous |
20/106 |
- |
1 |
19-38951067-C-A |
c.2413C>A |
p.P805T |
Missense |
20/106 |
- |
1 |
19-38951067-C-T |
c.2413C>T |
p.P805S |
Missense |
20/106 |
- |
1 |
19-38951068-C-T |
c.2414C>T |
p.P805L |
Missense |
20/106 |
- |
1 |
19-38951069-T-A |
c.2415T>A |
p.P805= |
Synonymous |
20/106 |
- |
1 |
19-38951069-T-C |
c.2415T>C |
p.P805= |
Synonymous |
20/106 |
- |
2 |
19-38951069-T-G |
c.2415T>G |
p.P805= |
Synonymous |
20/106 |
- |
1 |
19-38951070-G-A |
c.2416G>A |
p.G806S |
Missense |
20/106 |
- |
2 |
19-38951071-G-C |
c.2417G>C |
p.G806A |
Missense |
20/106 |
- |
2 |
19-38951076-G-T |
c.2422G>T |
p.A808S |
Missense |
20/106 |
- |
1 |
19-38951077-C-A |
c.2423C>A |
p.A808D |
Missense |
20/106 |
- |
1 |
19-38951077-C-T |
c.2423C>T |
p.A808V |
Missense |
20/106 |
- |
1 |
19-38951079-C-T |
c.2425C>T |
p.P809S |
Missense |
20/106 |
- |
6 |
19-38951082-T-A |
c.2428T>A |
p.C810S |
Missense |
20/106 |
- |
2 |
19-38951082-T-G |
c.2428T>G |
p.C810G |
Missense |
20/106 |
- |
1 |
19-38951083-G-C |
c.2429G>C |
p.C810S |
Missense |
20/106 |
- |
1 |
19-38951083-G-A |
c.2429G>A |
p.C810Y |
Missense |
20/106 |
- |
2 |
19-38951085-C-T |
c.2431C>T |
p.H811Y |
Missense |
20/106 |
- |
1 |
19-38951086-A-T |
c.2432A>T |
p.H811L |
Missense |
20/106 |
- |
1 |
19-38951087-T-C |
c.2433T>C |
p.H811= |
Synonymous |
20/106 |
- |
2 |
19-38951088-G-C |
c.2434G>C |
p.E812Q |
Missense |
20/106 |
- |
1 |
19-38951090-G-A |
c.2436G>A |
p.E812= |
Synonymous |
20/106 |
- |
3 |
19-38951090-G-C |
c.2436G>C |
p.E812D |
Missense |
20/106 |
- |
1 |
19-38951090-G-T |
c.2436G>T |
p.E812D |
Missense |
20/106 |
- |
1 |
19-38951093-T-C |
c.2439T>C |
p.A813= |
Synonymous |
20/106 |
- |
1 |
19-38951094-G-T |
c.2440G>T |
p.V814L |
Missense |
20/106 |
- |
1 |
19-38951099-C-T |
c.2445C>T |
p.L815= |
Synonymous |
20/106 |
- |
4 |
19-38951100-C-T |
c.2446C>T |
p.P816S |
Missense |
20/106 |
- |
7 |
19-38951101-C-T |
c.2447C>T |
p.P816L |
Missense |
20/106 |
- |
6 |
19-38951103-C-G |
c.2449C>G |
p.R817G |
Missense |
20/106 |
- |
1 |
19-38951103-C-T |
c.2449C>T |
p.R817* |
Nonsense |
20/106 |
- |
2 |
19-38951104-G-A |
c.2450G>A |
p.R817Q |
Missense |
20/106 |
- |
8 |
19-38951106-G-A |
c.2452G>A |
p.E818K |
Missense |
20/106 |
- |
1 |
19-38951107-A-C |
c.2453A>C |
p.E818A |
Missense |
20/106 |
- |
1 |
19-38951108-G-A |
c.2454G>A |
p.E818= |
Synonymous |
20/106 |
- |
1 |
19-38951109-C-A |
c.2455C>A |
p.R819= |
Synonymous |
20/106 |
- |
1 |
19-38951109-CGA-TGT |
c.2455_2457delinsTGT |
p.R819C |
Missense |
20/106 |
- |
1 |
19-38951109-C-T |
c.2455C>T |
p.R819* |
Nonsense |
20/106 |
- |
4 |
19-38951110-G-A |
c.2456G>A |
p.R819Q |
Missense |
20/106 |
- |
3 |
19-38951110-GA-AT |
c.2456_2457delinsAT |
p.R819H |
Missense |
20/106 |
- |
1 |
19-38951112-C-T |
c.2458C>T |
p.L820F |
Missense |
20/106 |
- |
2 |
19-38951115-C-T |
c.2461C>T |
p.H821Y |
Missense |
20/106 |
- |
1 |
19-38951117-T-A |
c.2463T>A |
p.H821Q |
Missense |
20/106 |
- |
1 |
19-38951118-C-T |
c.2464C>T |
p.L822F |
Missense |
20/106 |
- |
2 |
19-38951121-G-A |
c.2467G>A |
p.E823K |
Missense |
20/106 |
- |
2 |
19-38951127-A-T |
c.2473A>T |
p.I825F |
Missense |
20/106 |
- |
1 |
19-38951130-A-T |
c.2476A>T |
p.K826* |
Nonsense |
20/106 |
- |
1 |
19-38951132-G-A |
c.2478G>A |
p.K826= |
Synonymous |
20/106 |
- |
2 |
19-38951132-G-T |
c.2478G>T |
p.K826N |
Missense |
20/106 |
- |
1 |
19-38951133-G-A |
c.2479G>A |
p.E827K |
Missense |
20/106 |
- |
5 |
19-38951133-G-C |
c.2479G>C |
p.E827Q |
Missense |
20/106 |
- |
1 |
19-38951134-A-T |
c.2480A>T |
p.E827V |
Missense |
20/106 |
- |
1 |
19-38951139-C-G |
c.2485C>G |
p.R829G |
Missense |
20/106 |
- |
1 |
19-38951139-C-T |
c.2485C>T |
p.R829* |
Nonsense |
20/106 |
- |
4 |
19-38951140-G-A |
c.2486G>A |
p.R829Q |
Missense |
20/106 |
- |
10 |
19-38951142-C-A |
c.2488C>A |
p.R830= |
Synonymous |
20/106 |
- |
1 |
19-38951142-C-T |
c.2488C>T |
p.R830W |
Missense |
20/106 |
- |
26 |
19-38951144-G-C |
c.2490G>C |
p.R830= |
Synonymous |
20/106 |
- |
1 |
19-38951144-G-T |
c.2490G>T |
p.R830= |
Synonymous |
20/106 |
- |
1 |
19-38951143-G-A |
c.2489G>A |
p.R830Q |
Missense |
20/106 |
- |
8 |
19-38951144-G-A |
c.2490G>A |
p.R830= |
Synonymous |
20/106 |
- |
2 |
19-38951145-G-A |
c.2491G>A |
p.E831K |
Missense |
20/106 |
- |
2 |
19-38951147-G-A |
c.2493G>A |
p.E831= |
Synonymous |
20/106 |
- |
1 |
19-38951148-G-A |
c.2494G>A |
p.G832R |
Missense |
20/106 |
- |
2 |
19-38951148-G-C |
c.2494G>C |
p.G832R |
Missense |
20/106 |
- |
1 |
19-38951148-GG-TT |
c.2494_2495delinsTT |
p.G832L |
Missense |
20/106 |
- |
2 |
19-38951146-A-AG |
c.2496dup |
p.P833Afs*66 |
Frameshift |
20/106 |
- |
1 |
19-38951151-C-A |
c.2497C>A |
p.P833T |
Missense |
20/106 |
- |
1 |
19-38951151-C-T |
c.2497C>T |
p.P833S |
Missense |
20/106 |
- |
4 |
19-38951152-C-A |
c.2498C>A |
p.P833H |
Missense |
20/106 |
- |
1 |
19-38951153-C-A |
c.2499C>A |
p.P833= |
Synonymous |
20/106 |
- |
2 |
19-38951153-C-G |
c.2499C>G |
p.P833= |
Synonymous |
20/106 |
- |
2 |
19-38951153-C-T |
c.2499C>T |
p.P833= |
Synonymous |
20/106 |
- |
3 |
19-38951150-GC-G |
c.2500del |
p.R834Gfs*50 |
Frameshift |
20/106 |
- |
1 |
19-38951154-C-A |
c.2500C>A |
p.R834= |
Synonymous |
20/106 |
- |
2 |
19-38951154-C-CA |
c.2500_2501insA |
p.R834Qfs*65 |
Frameshift |
20/106 |
- |
2 |
19-38951154-CG-AA |
c.2500_2501delinsAA |
p.R834K |
Missense |
20/106 |
- |
1 |
19-38951154-C-T |
c.2500C>T |
p.R834W |
Missense |
20/106 |
- |
4 |
19-38951156-G-C |
c.2502G>C |
p.R834= |
Synonymous |
20/106 |
- |
1 |
19-38951156-G-T |
c.2502G>T |
p.R834= |
Synonymous |
20/106 |
- |
1 |
19-38951155-G-A |
c.2501G>A |
p.R834Q |
Missense |
20/106 |
- |
4 |
19-38951155-G-C |
c.2501G>C |
p.R834P |
Missense |
20/106 |
- |
1 |
19-38951156-G-A |
c.2502G>A |
p.R834= |
Synonymous |
20/106 |
- |
3 |
19-38951157-G-A |
c.2503G>A |
p.G835R |
Missense |
20/106 |
- |
1 |
19-38951157-G-T |
c.2503G>T |
p.G835W |
Missense |
20/106 |
- |
2 |
19-38951158-G-A |
c.2504G>A |
p.G835E |
Missense |
20/106 |
- |
1 |
19-38951154-CG-C |
c.2505del |
p.P836Lfs*48 |
Frameshift |
20/106 |
- |
4 |
19-38951160-C-A |
c.2506C>A |
p.P836T |
Missense |
20/106 |
- |
3 |
19-38951160-C-T |
c.2506C>T |
p.P836S |
Missense |
20/106 |
- |
1 |
19-38951161-C-T |
c.2507C>T |
p.P836L |
Missense |
20/106 |
- |
1 |
19-38951163-C-T |
c.2509C>T |
p.H837Y |
Missense |
20/106 |
- |
2 |
19-38951165-C-G |
c.2511C>G |
p.H837Q |
Missense |
20/106 |
- |
1 |
19-38951167-T-C |
c.2513T>C |
p.L838P |
Missense |
20/106 |
- |
1 |
19-38951169-G-C |
c.2515G>C |
p.V839L |
Missense |
20/106 |
- |
1 |
19-38951169-G-T |
c.2515G>T |
p.V839L |
Missense |
20/106 |
- |
1 |
19-38951169-GTG-ATC |
c.2515_2517delinsATC |
p.V839I |
Missense |
20/106 |
- |
1 |
19-38951170-T-C |
c.2516T>C |
p.V839A |
Missense |
20/106 |
- |
3 |
19-38951171-G-A |
c.2517G>A |
p.V839= |
Synonymous |
20/106 |
- |
1 |
19-38951172-G-T |
c.2518G>T |
p.G840C |
Missense |
20/106 |
- |
1 |
19-38951173-G-A |
c.2519G>A |
p.G840D |
Missense |
20/106 |
- |
1 |
19-38951173-G-T |
c.2519G>T |
p.G840V |
Missense |
20/106 |
- |
1 |
19-38951174-C-A |
c.2520C>A |
p.G840= |
Synonymous |
20/106 |
- |
1 |
19-38951174-C-G |
c.2520C>G |
p.G840= |
Synonymous |
20/106 |
- |
1 |
19-38951174-C-T |
c.2520C>T |
p.G840= |
Synonymous |
20/106 |
- |
3 |
19-38951175-C-A |
c.2521C>A |
p.P841T |
Missense |
20/106 |
- |
1 |
19-38951175-C-G |
c.2521C>G |
p.P841A |
Missense |
20/106 |
- |
1 |
19-38951175-C-T |
c.2521C>T |
p.P841S |
Missense |
20/106 |
- |
5 |
19-38951176-C-T |
c.2522C>T |
p.P841L |
Missense |
20/106 |
- |
1 |
19-38951180-T-C |
c.2526T>C |
p.S842= |
Synonymous |
20/106 |
- |
1 |
19-38951181-C-T |
c.2527C>T |
p.R843C |
Missense |
20/106 |
- |
2 |
19-38951182-G-A |
c.2528G>A |
p.R843H |
Missense |
20/106 |
- |
5 |
19-38951182-GC-AA |
c.2528_2529delinsAA |
p.R843Q |
Missense |
20/106 |
- |
1 |
19-38951182-G-T |
c.2528G>T |
p.R843L |
Missense |
20/106 |
- |
1 |
19-38951185-G-A |
c.2531G>A |
p.C844Y |
Missense |
20/106 |
- |
4 |
19-38951185-G-T |
c.2531G>T |
p.C844F |
Missense |
20/106 |
- |
1 |
19-38951187-C-A |
c.2533C>A |
p.L845I |
Missense |
20/106 |
- |
1 |
19-38951187-C-T |
c.2533C>T |
p.L845F |
Missense |
20/106 |
- |
2 |
19-38951189-C-A |
c.2535C>A |
p.L845= |
Synonymous |
20/106 |
- |
1 |
19-38951189-C-G |
c.2535C>G |
p.L845= |
Synonymous |
20/106 |
- |
1 |
19-38951189-C-T |
c.2535C>T |
p.L845= |
Synonymous |
20/106 |
- |
1 |
19-38951197-C-A |
c.2543C>A |
p.T848N |
Missense |
20/106 |
- |
1 |
19-38951197-C-T |
c.2543C>T |
p.T848I |
Missense |
20/106 |
- |
2 |
19-38951198-C-A |
c.2544C>A |
p.T848= |
Synonymous |
20/106 |
- |
1 |
19-38951198-C-G |
c.2544C>G |
p.T848= |
Synonymous |
20/106 |
- |
1 |
19-38951198-C-T |
c.2544C>T |
p.T848= |
Synonymous |
20/106 |
- |
2 |
19-38951199-G-A |
c.2545G>A |
p.D849N |
Missense |
20/106 |
- |
8 |
19-38951200-A-G |
c.2546A>G |
p.D849G |
Missense |
20/106 |
- |
4 |
19-38951202-T-A |
c.2548T>A |
p.F850I |
Missense |
20/106 |
- |
2 |
19-38951202-T-G |
c.2548T>G |
p.F850V |
Missense |
20/106 |
- |
1 |
19-38951204-C-G |
c.2550C>G |
p.F850L |
Missense |
20/106 |
- |
1 |
19-38951204-C-T |
c.2550C>T |
p.F850= |
Synonymous |
20/106 |
- |
3 |
19-38951205-G-A |
c.2551G>A |
p.V851M |
Missense |
20/106 |
- |
12 |
19-38951205-G-T |
c.2551G>T |
p.V851L |
Missense |
20/106 |
- |
2 |
19-38951210-C-A |
c.2556C>A |
p.P852= |
Synonymous |
20/106 |
- |
1 |
19-38951210-C-G |
c.2556C>G |
p.P852= |
Synonymous |
20/106 |
- |
1 |
19-38951210-C-T |
c.2556C>T |
p.P852= |
Synonymous |
20/106 |
- |
1 |
19-38951212-G-A |
c.2558G>A |
p.C853Y |
Missense |
20/106 |
- |
1 |
19-38951215-C-A |
c.2561C>A |
p.P854H |
Missense |
20/106 |
- |
1 |
19-38951217-G-A |
c.2563G>A |
p.V855M |
Missense |
20/106 |
- |
1 |
19-38951219-G-A |
c.2565G>A |
p.V855= |
Synonymous |
20/106 |
- |
1 |
19-38951220-G-A |
c.2566G>A |
p.D856N |
Missense |
20/106 |
- |
1 |
19-38951222-C-T |
c.2568C>T |
p.D856= |
Synonymous |
20/106 |
- |
2 |
19-38951226-G-C |
c.2572G>C |
p.V858L |
Missense |
20/106 |
- |
1 |
19-38951227-T-A |
c.2573T>A |
p.V858D |
Missense |
20/106 |
- |
1 |
19-38951228-C-A |
c.2574C>A |
p.V858= |
Synonymous |
20/106 |
- |
1 |
19-38951228-C-G |
c.2574C>G |
p.V858= |
Synonymous |
20/106 |
- |
1 |
19-38951228-C-T |
c.2574C>T |
p.V858= |
Synonymous |
20/106 |
- |
1 |
19-38951229-C-T |
c.2575C>T |
p.Q859* |
Nonsense |
20/106 |
- |
2 |
19-38951231-G-C |
c.2577G>C |
p.Q859H |
Missense |
20/106 |
- |
1 |
19-38951233-T-C |
c.2577+2T>C |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38951262-G-C |
c.2577+31G>C |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38951344-G-A |
c.2577+113G>A |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38952048-A-G |
c.2577+817A>G |
- |
IntronicSNV |
- |
20/105 |
2 |
19-38952452-T-C |
c.2577+1221T>C |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38952850-G-C |
c.2578-1213G>C |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953021-A-G |
c.2578-1042A>G |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953055-G-C |
c.2578-1008G>C |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953055-G-T |
c.2578-1008G>T |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953109-G-T |
c.2578-954G>T |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953151-C-T |
c.2578-912C>T |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953210-A-T |
c.2578-853A>T |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953501-G-A |
c.2578-562G>A |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953501-G-C |
c.2578-562G>C |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953501-G-T |
c.2578-562G>T |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953777-A-G |
c.2578-286A>G |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953809-A-G |
c.2578-254A>G |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38953996-A-G |
c.2578-67A>G |
- |
IntronicSNV |
- |
20/105 |
8 |
19-38954040-C-G |
c.2578-23C>G |
- |
IntronicSNV |
- |
20/105 |
1 |
19-38954063-GATTGTCCTGCCGCCCCATCTGGAGCGCATTCGGGAGAAGCTGGCGGAGAACATCCACGA-G |
c.2578_2636del |
p.I860Afs*19 |
InFrameDeletion |
21/106 |
- |
1 |
19-38954066-G-A |
c.2581G>A |
p.V861I |
Missense |
21/106 |
- |
1 |
19-38954069-C-A |
c.2584C>A |
p.L862M |
Missense |
21/106 |
- |
1 |
19-38954069-CTG-ATC |
c.2584_2586delinsATC |
p.L862I |
Missense |
21/106 |
- |
1 |
19-38954073-C-T |
c.2588C>T |
p.P863L |
Missense |
21/106 |
- |
4 |
19-38954074-G-A |
c.2589G>A |
p.P863= |
Synonymous |
21/106 |
- |
1 |
19-38954074-G-C |
c.2589G>C |
p.P863= |
Synonymous |
21/106 |
- |
1 |
19-38954074-G-T |
c.2589G>T |
p.P863= |
Synonymous |
21/106 |
- |
2 |
19-38954076-C-T |
c.2591C>T |
p.P864L |
Missense |
21/106 |
- |
1 |
19-38954077-C-A |
c.2592C>A |
p.P864= |
Synonymous |
21/106 |
- |
1 |
19-38954077-C-G |
c.2592C>G |
p.P864= |
Synonymous |
21/106 |
- |
1 |
19-38954077-C-T |
c.2592C>T |
p.P864= |
Synonymous |
21/106 |
- |
2 |
19-38954078-C-T |
c.2593C>T |
p.H865Y |
Missense |
21/106 |
- |
4 |
19-38954079-A-G |
c.2594A>G |
p.H865R |
Missense |
21/106 |
- |
2 |
19-38954079-A-T |
c.2594A>T |
p.H865L |
Missense |
21/106 |
- |
3 |
19-38954082-T-C |
c.2597T>C |
p.L866P |
Missense |
21/106 |
- |
1 |
19-38954087-C-T |
c.2602C>T |
p.R868C |
Missense |
21/106 |
- |
4 |
19-38954088-G-A |
c.2603G>A |
p.R868H |
Missense |
21/106 |
- |
4 |
19-38954088-G-C |
c.2603G>C |
p.R868P |
Missense |
21/106 |
- |
1 |
19-38954088-G-T |
c.2603G>T |
p.R868L |
Missense |
21/106 |
- |
1 |
19-38954092-T-A |
c.2607T>A |
p.I869= |
Synonymous |
21/106 |
- |
1 |
19-38954092-T-C |
c.2607T>C |
p.I869= |
Synonymous |
21/106 |
- |
1 |
19-38954093-C-T |
c.2608C>T |
p.R870W |
Missense |
21/106 |
- |
10 |
19-38954094-G-A |
c.2609G>A |
p.R870Q |
Missense |
21/106 |
- |
1 |
19-38954095-G-A |
c.2610G>A |
p.R870= |
Synonymous |
21/106 |
- |
1 |
19-38954096-G-A |
c.2611G>A |
p.E871K |
Missense |
21/106 |
- |
2 |
19-38954096-G-T |
c.2611G>T |
p.E871* |
Nonsense |
21/106 |
- |
1 |
19-38954098-G-T |
c.2613G>T |
p.E871D |
Missense |
21/106 |
- |
1 |
19-38954103-T-TG |
c.2620dup |
p.A874Gfs*25 |
Frameshift |
21/106 |
- |
1 |
19-38954106-C-G |
c.2621C>G |
p.A874G |
Missense |
21/106 |
- |
1 |
19-38954106-C-T |
c.2621C>T |
p.A874V |
Missense |
21/106 |
- |
2 |
19-38954107-G-A |
c.2622G>A |
p.A874= |
Synonymous |
21/106 |
- |
1 |
19-38954108-G-A |
c.2623G>A |
p.E875K |
Missense |
21/106 |
- |
7 |
19-38954108-G-T |
c.2623G>T |
p.E875* |
Nonsense |
21/106 |
- |
1 |
19-38954112-A-G |
c.2627A>G |
p.N876S |
Missense |
21/106 |
- |
1 |
19-38954113-C-T |
c.2628C>T |
p.N876= |
Synonymous |
21/106 |
- |
4 |
19-38954114-A-G |
c.2629A>G |
p.I877V |
Missense |
21/106 |
- |
1 |
19-38954116-C-A |
c.2631C>A |
p.I877= |
Synonymous |
21/106 |
- |
1 |
19-38954116-C-T |
c.2631C>T |
p.I877= |
Synonymous |
21/106 |
- |
2 |
19-38954115-TC-T |
c.2632del |
p.H878Tfs*6 |
Frameshift |
21/106 |
- |
1 |
19-38954117-C-T |
c.2632C>T |
p.H878Y |
Missense |
21/106 |
- |
2 |
19-38954119-C-G |
c.2634C>G |
p.H878Q |
Missense |
21/106 |
- |
1 |
19-38954119-C-T |
c.2634C>T |
p.H878= |
Synonymous |
21/106 |
- |
3 |
19-38954120-G-A |
c.2635G>A |
p.E879K |
Missense |
21/106 |
- |
4 |
19-38954125-C-A |
c.2640C>A |
p.L880= |
Synonymous |
21/106 |
- |
1 |
19-38954125-C-G |
c.2640C>G |
p.L880= |
Synonymous |
21/106 |
- |
1 |
19-38954125-C-T |
c.2640C>T |
p.L880= |
Synonymous |
21/106 |
- |
1 |
19-38954127-G-T |
c.2642G>T |
p.W881L |
Missense |
21/106 |
- |
1 |
19-38954130-C-A |
c.2645C>A |
p.A882E |
Missense |
21/106 |
- |
1 |
19-38954130-C-T |
c.2645C>T |
p.A882V |
Missense |
21/106 |
- |
9 |
19-38954131-G-A |
c.2646G>A |
p.A882= |
Synonymous |
21/106 |
- |
2 |
19-38954131-G-C |
c.2646G>C |
p.A882= |
Synonymous |
21/106 |
- |
1 |
19-38954131-G-T |
c.2646G>T |
p.A882= |
Synonymous |
21/106 |
- |
1 |
19-38954133-T-A |
c.2648T>A |
p.L883Q |
Missense |
21/106 |
- |
1 |
19-38954133-T-C |
c.2648T>C |
p.L883P |
Missense |
21/106 |
- |
1 |
19-38954134-A-C |
c.2649A>C |
p.L883= |
Synonymous |
21/106 |
- |
1 |
19-38954135-AACC-A |
c.2650_2652del |
p.T884del |
InFrameDeletion |
21/106 |
- |
1 |
19-38954136-C-T |
c.2651C>T |
p.T884I |
Missense |
21/106 |
- |
1 |
19-38954137-C-A |
c.2652C>A |
p.T884= |
Synonymous |
21/106 |
- |
1 |
19-38954138-C-T |
c.2653C>T |
p.R885C |
Missense |
21/106 |
- |
4 |
19-38954139-G-A |
c.2654G>A |
p.R885H |
Missense |
21/106 |
- |
11 |
19-38954139-G-T |
c.2654G>T |
p.R885L |
Missense |
21/106 |
- |
6 |
19-38954140-C-A |
c.2655C>A |
p.R885= |
Synonymous |
21/106 |
- |
2 |
19-38954140-C-G |
c.2655C>G |
p.R885= |
Synonymous |
21/106 |
- |
2 |
19-38954140-C-T |
c.2655C>T |
p.R885= |
Synonymous |
21/106 |
- |
2 |
19-38954143-C-T |
c.2658C>T |
p.I886= |
Synonymous |
21/106 |
- |
2 |
19-38954144-G-A |
c.2659G>A |
p.E887K |
Missense |
21/106 |
- |
8 |
19-38954146-G-A |
c.2661G>A |
p.E887= |
Synonymous |
21/106 |
- |
1 |
19-38954147-C-T |
c.2662C>T |
p.Q888* |
Nonsense |
21/106 |
- |
2 |
19-38954150-G-A |
c.2665G>A |
p.G889S |
Missense |
21/106 |
- |
1 |
19-38954151-G-A |
c.2666G>A |
p.G889D |
Missense |
21/106 |
- |
4 |
19-38954152-C-T |
c.2667C>T |
p.G889= |
Synonymous |
21/106 |
- |
1 |
19-38954156-A-T |
c.2671A>T |
p.T891S |
Missense |
21/106 |
- |
1 |
19-38954157-CC-TG |
c.2672_2673delinsTG |
p.T891M |
Missense |
21/106 |
- |
1 |
19-38954157-C-G |
c.2672C>G |
p.T891S |
Missense |
21/106 |
- |
1 |
19-38954161-C-A |
c.2676C>A |
p.Y892* |
Nonsense |
21/106 |
- |
1 |
19-38954161-C-G |
c.2676C>G |
p.Y892* |
Nonsense |
21/106 |
- |
1 |
19-38954161-C-T |
c.2676C>T |
p.Y892= |
Synonymous |
21/106 |
- |
3 |
19-38954162-G-A |
c.2677G>A |
p.G893S |
Missense |
21/106 |
- |
12 |
19-38954162-G-T |
c.2677G>T |
p.G893C |
Missense |
21/106 |
- |
1 |
19-38954164-C-T |
c.2679C>T |
p.G893= |
Synonymous |
21/106 |
- |
1 |
19-38954165-CCCG-C |
c.2680_2682del |
p.P894del |
InFrameDeletion |
21/106 |
- |
1 |
19-38954166-C-T |
c.2681C>T |
p.P894L |
Missense |
21/106 |
- |
2 |
19-38954167-G-A |
c.2682G>A |
p.P894= |
Synonymous |
21/106 |
- |
3 |
19-38954167-G-C |
c.2682G>C |
p.P894= |
Synonymous |
21/106 |
- |
4 |
19-38954167-G-T |
c.2682G>T |
p.P894= |
Synonymous |
21/106 |
- |
1 |
19-38954169-T-C |
c.2682+2T>C |
- |
IntronicSNV |
- |
21/105 |
1 |
19-38954173-G-A |
c.2682+6G>A |
- |
IntronicSNV |
- |
21/105 |
1 |
19-38954174-G-A |
c.2682+7G>A |
- |
IntronicSNV |
- |
21/105 |
1 |
19-38954273-G-A |
c.2682+106G>A |
- |
IntronicSNV |
- |
21/105 |
1 |
19-38954273-G-T |
c.2682+106G>T |
- |
IntronicSNV |
- |
21/105 |
1 |
19-38954387-G-C |
c.2683G>C |
p.V895L |
Missense |
22/106 |
- |
2 |
19-38954390-CGG-TGT |
c.2686_2688delinsTGT |
p.R896C |
Missense |
22/106 |
- |
1 |
19-38954390-C-T |
c.2686C>T |
p.R896W |
Missense |
22/106 |
- |
2 |
19-38954391-G-A |
c.2687G>A |
p.R896Q |
Missense |
22/106 |
- |
5 |
19-38954393-G-A |
c.2689G>A |
p.D897N |
Missense |
22/106 |
- |
2 |
19-38954396-G-A |
c.2692G>A |
p.D898N |
Missense |
22/106 |
- |
2 |
19-38954397-A-T |
c.2693A>T |
p.D898V |
Missense |
22/106 |
- |
1 |
19-38954396-GACA-G |
c.2697_2699del |
p.N899del |
InFrameDeletion |
22/106 |
- |
1 |
19-38954401-C-A |
c.2697C>A |
p.N899K |
Missense |
22/106 |
- |
3 |
19-38954401-C-G |
c.2697C>G |
p.N899K |
Missense |
22/106 |
- |
2 |
19-38954402-A-C |
c.2698A>C |
p.K900Q |
Missense |
22/106 |
- |
1 |
19-38954405-A-G |
c.2701A>G |
p.R901G |
Missense |
22/106 |
- |
1 |
19-38954405-AGG-TGT |
c.2701_2703delinsTGT |
p.R901C |
Missense |
22/106 |
- |
1 |
19-38954405-A-T |
c.2701A>T |
p.R901W |
Missense |
22/106 |
- |
1 |
19-38954406-G-A |
c.2702G>A |
p.R901K |
Missense |
22/106 |
- |
7 |
19-38954407-G-C |
c.2703G>C |
p.R901S |
Missense |
22/106 |
- |
2 |
19-38954407-G-T |
c.2703G>T |
p.R901S |
Missense |
22/106 |
- |
1 |
19-38954410-G-A |
c.2706G>A |
p.L902= |
Synonymous |
22/106 |
- |
1 |
19-38954413-ACCC-A |
c.2709_2711del |
p.H903_P904delinsQ |
MultiAAMissense |
22/106 |
- |
1 |
19-38954413-C-G |
c.2709C>G |
p.H903Q |
Missense |
22/106 |
- |
3 |
19-38954413-C-T |
c.2709C>T |
p.H903= |
Synonymous |
22/106 |
- |
4 |
19-38954415-C-A |
c.2711C>A |
p.P904Q |
Missense |
22/106 |
- |
1 |
19-38954415-C-T |
c.2711C>T |
p.P904L |
Missense |
22/106 |
- |
4 |
19-38954416-G-A |
c.2712G>A |
p.P904= |
Synonymous |
22/106 |
- |
1 |
19-38954416-G-C |
c.2712G>C |
p.P904= |
Synonymous |
22/106 |
- |
1 |
19-38954416-G-T |
c.2712G>T |
p.P904= |
Synonymous |
22/106 |
- |
1 |
19-38954420-C-A |
c.2716C>A |
p.L906I |
Missense |
22/106 |
- |
1 |
19-38954423-G-C |
c.2719G>C |
p.V907L |
Missense |
22/106 |
- |
2 |
19-38954424-T-C |
c.2720T>C |
p.V907A |
Missense |
22/106 |
- |
1 |
19-38954425-G-A |
c.2721G>A |
p.V907= |
Synonymous |
22/106 |
- |
1 |
19-38954425-G-C |
c.2721G>C |
p.V907= |
Synonymous |
22/106 |
- |
1 |
19-38954425-G-T |
c.2721G>T |
p.V907= |
Synonymous |
22/106 |
- |
1 |
19-38954426-G-A |
c.2722G>A |
p.D908N |
Missense |
22/106 |
- |
1 |
19-38954426-G-T |
c.2722G>T |
p.D908Y |
Missense |
22/106 |
- |
1 |
19-38954431-C-A |
c.2727C>A |
p.F909L |
Missense |
22/106 |
- |
1 |
19-38954431-C-T |
c.2727C>T |
p.F909= |
Synonymous |
22/106 |
- |
1 |
19-38954436-G-A |
c.2732G>A |
p.S911N |
Missense |
22/106 |
- |
1 |
19-38954441-C-T |
c.2737C>T |
p.P913S |
Missense |
22/106 |
- |
1 |
19-38954445-A-C |
c.2741A>C |
p.E914A |
Missense |
22/106 |
- |
1 |
19-38954446-G-A |
c.2742G>A |
p.E914= |
Synonymous |
22/106 |
- |
1 |
19-38954446-G-T |
c.2742G>T |
p.E914D |
Missense |
22/106 |
- |
1 |
19-38954452-G-A |
c.2748G>A |
p.E916= |
Synonymous |
22/106 |
- |
1 |
19-38954452-G-C |
c.2748G>C |
p.E916D |
Missense |
22/106 |
- |
1 |
19-38954452-G-T |
c.2748G>T |
p.E916D |
Missense |
22/106 |
- |
1 |
19-38954453-A-C |
c.2749A>C |
p.R917= |
Synonymous |
22/106 |
- |
1 |
19-38954455-G-A |
c.2751G>A |
p.R917= |
Synonymous |
22/106 |
- |
2 |
19-38954463-A-C |
c.2759A>C |
p.N920T |
Missense |
22/106 |
- |
1 |
19-38954464-C-T |
c.2760C>T |
p.N920= |
Synonymous |
22/106 |
- |
1 |
19-38954467-G-A |
c.2763G>A |
p.L921= |
Synonymous |
22/106 |
- |
1 |
19-38954469-A-T |
c.2765A>T |
p.Q922L |
Missense |
22/106 |
- |
2 |
19-38954470-G-C |
c.2766G>C |
p.Q922H |
Missense |
22/106 |
- |
1 |
19-38954470-G-T |
c.2766G>T |
p.Q922H |
Missense |
22/106 |
- |
1 |
19-38954472-T-G |
c.2768T>G |
p.M923R |
Missense |
22/106 |
- |
1 |
19-38954479-G-A |
c.2775G>A |
p.G925= |
Synonymous |
22/106 |
- |
2 |
19-38954479-G-C |
c.2775G>C |
p.G925= |
Synonymous |
22/106 |
- |
1 |
19-38954479-G-T |
c.2775G>T |
p.G925= |
Synonymous |
22/106 |
- |
1 |
19-38954480-G-A |
c.2776G>A |
p.E926K |
Missense |
22/106 |
- |
7 |
19-38954481-A-C |
c.2777A>C |
p.E926A |
Missense |
22/106 |
- |
1 |
19-38954481-A-G |
c.2777A>G |
p.E926G |
Missense |
22/106 |
- |
1 |
19-38954483-A-T |
c.2779A>T |
p.T927S |
Missense |
22/106 |
- |
1 |
19-38954485-G-A |
c.2781G>A |
p.T927= |
Synonymous |
22/106 |
- |
4 |
19-38954485-G-C |
c.2781G>C |
p.T927= |
Synonymous |
22/106 |
- |
2 |
19-38954485-G-T |
c.2781G>T |
p.T927= |
Synonymous |
22/106 |
- |
3 |
19-38954494-A-C |
c.2786+4A>C |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954495-G-A |
c.2786+5G>A |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954501-A-T |
c.2786+11A>T |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954568-GAGGTAGAGACTGAGAGAGAGAAGGATGGAGGGGAC-G |
c.2786+82_2786+116del |
- |
IntronicDeletion |
- |
22/105 |
1 |
19-38954601-G-A |
c.2786+111G>A |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954619-T-G |
c.2786+129T>G |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954639-G-A |
c.2786+149G>A |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954688-G-A |
c.2786+198G>A |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954688-G-T |
c.2786+198G>T |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38954763-AAAACTTAGCCGGGCGTGGTGGTGCACCTCTGTAATCCCAGCTCCTCAGGAGGCTGAGGC-A |
c.2786+275_2786+333del |
- |
Unclassified |
- |
22/105 |
1 |
19-38954881-C-T |
c.2786+391C>T |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38955014-A-G |
c.2787-265A>G |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38955213-G-A |
c.2787-66G>A |
- |
IntronicSNV |
- |
22/105 |
1 |
19-38955279-G-A |
c.2787G>A |
p.K929= |
Synonymous |
23/106 |
- |
1 |
19-38955280-A-G |
c.2788A>G |
p.T930A |
Missense |
23/106 |
- |
1 |
19-38955284-T-C |
c.2792T>C |
p.L931P |
Missense |
23/106 |
- |
1 |
19-38955289-G-A |
c.2797G>A |
p.A933T |
Missense |
23/106 |
- |
7 |
19-38955293-T-C |
c.2801T>C |
p.L934P |
Missense |
23/106 |
- |
1 |
19-38955298-TG-AC |
c.2806_2807delinsAC |
p.C936T |
Missense |
23/106 |
- |
1 |
19-38955300-C-T |
c.2808C>T |
p.C936= |
Synonymous |
23/106 |
- |
1 |
19-38955304-G-A |
c.2812G>A |
p.V938M |
Missense |
23/106 |
- |
5 |
19-38955304-G-T |
c.2812G>T |
p.V938L |
Missense |
23/106 |
- |
1 |
19-38955307-GG-AA |
c.2815_2816delinsAA |
p.G939N |
Missense |
23/106 |
- |
1 |
19-38955308-G-A |
c.2816G>A |
p.G939D |
Missense |
23/106 |
- |
2 |
19-38955314-C-T |
c.2822C>T |
p.A941V |
Missense |
23/106 |
- |
2 |
19-38955316-G-C |
c.2824G>C |
p.D942H |
Missense |
23/106 |
- |
1 |
19-38955319-G-A |
c.2827G>A |
p.E943K |
Missense |
23/106 |
- |
1 |
19-38955319-TGAG-T |
c.2827_2829del |
p.E943del |
InFrameDeletion |
23/106 |
- |
1 |
19-38955322-A-G |
c.2830A>G |
p.K944E |
Missense |
23/106 |
- |
1 |
19-38955324-G-T |
c.2832G>T |
p.K944N |
Missense |
23/106 |
- |
1 |
19-38955326-C-T |
c.2834C>T |
p.A945V |
Missense |
23/106 |
- |
1 |
19-38955328-G-A |
c.2836G>A |
p.E946K |
Missense |
23/106 |
- |
1 |
19-38955331-G-A |
c.2839G>A |
p.D947N |
Missense |
23/106 |
- |
1 |
19-38955331-G-T |
c.2839G>T |
p.D947Y |
Missense |
23/106 |
- |
1 |
19-38955337-C-A |
c.2845C>A |
p.L949M |
Missense |
23/106 |
- |
1 |
19-38955339-G-T |
c.2847G>T |
p.L949= |
Synonymous |
23/106 |
- |
1 |
19-38955340-A-T |
c.2848A>T |
p.K950* |
Nonsense |
23/106 |
- |
1 |
19-38955342-G-A |
c.2850G>A |
p.K950= |
Synonymous |
23/106 |
- |
2 |
19-38955342-G-C |
c.2850G>C |
p.K950N |
Missense |
23/106 |
- |
1 |
19-38955350-A-G |
c.2858A>G |
p.K953R |
Missense |
23/106 |
- |
1 |
19-38955352-C-T |
c.2860C>T |
p.L954F |
Missense |
23/106 |
- |
2 |
19-38955356-C-A |
c.2864C>A |
p.P955H |
Missense |
23/106 |
- |
2 |
19-38955353-TC-T |
c.2865del |
p.K956Rfs*4 |
Frameshift |
23/106 |
- |
1 |
19-38955357-C-A |
c.2865C>A |
p.P955= |
Synonymous |
23/106 |
- |
1 |
19-38955357-C-G |
c.2865C>G |
p.P955= |
Synonymous |
23/106 |
- |
1 |
19-38955357-C-T |
c.2865C>T |
p.P955= |
Synonymous |
23/106 |
- |
1 |
19-38955360-G-C |
c.2868G>C |
p.K956N |
Missense |
23/106 |
- |
1 |
19-38955361-A-G |
c.2869A>G |
p.T957A |
Missense |
23/106 |
- |
2 |
19-38955362-C-T |
c.2870C>T |
p.T957M |
Missense |
23/106 |
- |
3 |
19-38955363-G-A |
c.2870+1G>A |
- |
IntronicSNV |
- |
23/105 |
3 |
19-38955583-G-A |
c.2870+221G>A |
- |
IntronicSNV |
- |
23/105 |
2 |
19-38955592-C-G |
c.2870+230C>G |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38955745-G-A |
c.2870+383G>A |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38955975-G-T |
c.2870+613G>T |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38956176-G-A |
c.2871-555G>A |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38956194-C-T |
c.2871-537C>T |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38956504-G-A |
c.2871-227G>A |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38956506-G-A |
c.2871-225G>A |
- |
IntronicSNV |
- |
23/105 |
1 |
19-38956726-C-T |
c.2871-5C>T |
- |
IntronicSNV |
- |
23/105 |
3 |
19-38956729-AG-A |
c.2871del |
p.Y958Ifs*2 |
Frameshift |
24/106 |
- |
1 |
19-38956737-G-A |
c.2877G>A |
p.M959I |
Missense |
24/106 |
- |
2 |
19-38956737-G-C |
c.2877G>C |
p.M959I |
Missense |
24/106 |
- |
2 |
19-38956737-G-T |
c.2877G>T |
p.M959I |
Missense |
24/106 |
- |
2 |
19-38956741-AG-TT |
c.2881_2882delinsTT |
p.S961F |
Missense |
24/106 |
- |
1 |
19-38956742-G-A |
c.2882G>A |
p.S961N |
Missense |
24/106 |
- |
1 |
19-38956742-G-T |
c.2882G>T |
p.S961I |
Missense |
24/106 |
- |
1 |
19-38956747-GGG-TGT |
c.2887_2889delinsTGT |
p.G963C |
Missense |
24/106 |
- |
1 |
19-38956747-G-T |
c.2887G>T |
p.G963W |
Missense |
24/106 |
- |
1 |
19-38956749-G-A |
c.2889G>A |
p.G963= |
Synonymous |
24/106 |
- |
1 |
19-38956752-C-A |
c.2892C>A |
p.Y964* |
Nonsense |
24/106 |
- |
1 |
19-38956752-C-G |
c.2892C>G |
p.Y964* |
Nonsense |
24/106 |
- |
1 |
19-38956753-A-G |
c.2893A>G |
p.K965E |
Missense |
24/106 |
- |
1 |
19-38956757-C-T |
c.2897C>T |
p.P966L |
Missense |
24/106 |
- |
5 |
19-38956758-G-A |
c.2898G>A |
p.P966= |
Synonymous |
24/106 |
- |
4 |
19-38956758-G-C |
c.2898G>C |
p.P966= |
Synonymous |
24/106 |
- |
3 |
19-38956758-G-T |
c.2898G>T |
p.P966= |
Synonymous |
24/106 |
- |
3 |
19-38956759-G-A |
c.2899G>A |
p.A967T |
Missense |
24/106 |
- |
1 |
19-38956759-G-C |
c.2899G>C |
p.A967P |
Missense |
24/106 |
- |
1 |
19-38956759-G-T |
c.2899G>T |
p.A967S |
Missense |
24/106 |
- |
2 |
19-38956762-C-A |
c.2902C>A |
p.P968T |
Missense |
24/106 |
- |
3 |
19-38956761-TC-T |
c.2903del |
p.P968Rfs*4 |
Frameshift |
24/106 |
- |
1 |
19-38956763-C-T |
c.2903C>T |
p.P968L |
Missense |
24/106 |
- |
1 |
19-38956770-C-A |
c.2910C>A |
p.D970E |
Missense |
24/106 |
- |
1 |
19-38956773-G-C |
c.2913G>C |
p.L971= |
Synonymous |
24/106 |
- |
3 |
19-38956773-G-T |
c.2913G>T |
p.L971= |
Synonymous |
24/106 |
- |
1 |
19-38956776-C-T |
c.2916C>T |
p.S972= |
Synonymous |
24/106 |
- |
3 |
19-38956777-C-T |
c.2917C>T |
p.H973Y |
Missense |
24/106 |
- |
1 |
19-38956778-A-T |
c.2918A>T |
p.H973L |
Missense |
24/106 |
- |
1 |
19-38956779-C-T |
c.2919C>T |
p.H973= |
Synonymous |
24/106 |
- |
2 |
19-38956780-G-A |
c.2920G>A |
p.V974M |
Missense |
24/106 |
- |
8 |
19-38956781-T-C |
c.2921T>C |
p.V974A |
Missense |
24/106 |
- |
2 |
19-38956783-CGG-ATC |
c.2923_2925delinsATC |
p.R975I |
Missense |
24/106 |
- |
1 |
19-38956783-CG-TA |
c.2923_2924delinsTA |
p.R975* |
Nonsense |
24/106 |
- |
1 |
19-38956783-C-T |
c.2923C>T |
p.R975W |
Missense |
24/106 |
- |
11 |
19-38956781-TGCGGCTGAC-T |
c.2924_2932del |
p.R975_T977del |
InFrameDeletion |
24/106 |
- |
1 |
19-38956784-G-A |
c.2924G>A |
p.R975Q |
Missense |
24/106 |
- |
1 |
19-38956784-G-T |
c.2924G>T |
p.R975L |
Missense |
24/106 |
- |
3 |
19-38956785-G-A |
c.2925G>A |
p.R975= |
Synonymous |
24/106 |
- |
1 |
19-38956786-C-G |
c.2926C>G |
p.L976V |
Missense |
24/106 |
- |
1 |
19-38956787-T-A |
c.2927T>A |
p.L976Q |
Missense |
24/106 |
- |
1 |
19-38956786-C-T |
c.2926C>T |
p.L976= |
Synonymous |
24/106 |
- |
1 |
19-38956788-G-A |
c.2928G>A |
p.L976= |
Synonymous |
24/106 |
- |
1 |
19-38956788-G-C |
c.2928G>C |
p.L976= |
Synonymous |
24/106 |
- |
1 |
19-38956788-G-T |
c.2928G>T |
p.L976= |
Synonymous |
24/106 |
- |
1 |
19-38956790-C-T |
c.2930C>T |
p.T977M |
Missense |
24/106 |
- |
4 |
19-38956791-G-A |
c.2931G>A |
p.T977= |
Synonymous |
24/106 |
- |
3 |
19-38956791-G-C |
c.2931G>C |
p.T977= |
Synonymous |
24/106 |
- |
1 |
19-38956791-G-T |
c.2931G>T |
p.T977= |
Synonymous |
24/106 |
- |
1 |
19-38956792-C-A |
c.2932C>A |
p.P978T |
Missense |
24/106 |
- |
2 |
19-38956792-C-T |
c.2932C>T |
p.P978S |
Missense |
24/106 |
- |
3 |
19-38956793-C-T |
c.2933C>T |
p.P978L |
Missense |
24/106 |
- |
2 |
19-38956794-G-A |
c.2934G>A |
p.P978= |
Synonymous |
24/106 |
- |
2 |
19-38956794-G-C |
c.2934G>C |
p.P978= |
Synonymous |
24/106 |
- |
1 |
19-38956794-G-T |
c.2934G>T |
p.P978= |
Synonymous |
24/106 |
- |
1 |
19-38956795-G-C |
c.2935G>C |
p.A979P |
Missense |
24/106 |
- |
1 |
19-38956796-C-T |
c.2936C>T |
p.A979V |
Missense |
24/106 |
- |
1 |
19-38956797-G-A |
c.2937G>A |
p.A979= |
Synonymous |
24/106 |
- |
1 |
19-38956797-G-C |
c.2937G>C |
p.A979= |
Synonymous |
24/106 |
- |
1 |
19-38956797-G-T |
c.2937G>T |
p.A979= |
Synonymous |
24/106 |
- |
1 |
19-38956798-C-T |
c.2938C>T |
p.Q980* |
Nonsense |
24/106 |
- |
2 |
19-38956800-G-C |
c.2940G>C |
p.Q980H |
Missense |
24/106 |
- |
1 |
19-38956800-G-T |
c.2940G>T |
p.Q980H |
Missense |
24/106 |
- |
1 |
19-38956802-C-A |
c.2942C>A |
p.T981K |
Missense |
24/106 |
- |
1 |
19-38956802-C-T |
c.2942C>T |
p.T981M |
Missense |
24/106 |
- |
1 |
19-38956803-G-A |
c.2943G>A |
p.T981= |
Synonymous |
24/106 |
- |
30 |
19-38956803-G-C |
c.2943G>C |
p.T981= |
Synonymous |
24/106 |
- |
29 |
19-38956803-G-T |
c.2943G>T |
p.T981= |
Synonymous |
24/106 |
- |
2 |
19-38956810-G-A |
c.2950G>A |
p.V984M |
Missense |
24/106 |
- |
1 |
19-38956813-GA-TG |
c.2953_2954delinsTG |
p.D985C |
Missense |
24/106 |
- |
1 |
19-38956813-G-T |
c.2953G>T |
p.D985Y |
Missense |
24/106 |
- |
1 |
19-38956816-C-A |
c.2956C>A |
p.R986S |
Missense |
24/106 |
- |
1 |
19-38956816-C-G |
c.2956C>G |
p.R986G |
Missense |
24/106 |
- |
1 |
19-38956816-C-T |
c.2956C>T |
p.R986C |
Missense |
24/106 |
- |
5 |
19-38956817-G-A |
c.2957G>A |
p.R986H |
Missense |
24/106 |
- |
2 |
19-38956819-C-A |
c.2959C>A |
p.L987M |
Missense |
24/106 |
- |
1 |
19-38956820-T-G |
c.2960T>G |
p.L987R |
Missense |
24/106 |
- |
1 |
19-38956826-A-G |
c.2966A>G |
p.E989G |
Missense |
24/106 |
- |
4 |
19-38956829-A-T |
c.2969A>T |
p.N990I |
Missense |
24/106 |
- |
5 |
19-38956832-G-A |
c.2972G>A |
p.G991E |
Missense |
24/106 |
- |
1 |
19-38956833-G-A |
c.2973G>A |
p.G991= |
Synonymous |
24/106 |
- |
1 |
19-38956833-G-C |
c.2973G>C |
p.G991= |
Synonymous |
24/106 |
- |
1 |
19-38956833-G-T |
c.2973G>T |
p.G991= |
Synonymous |
24/106 |
- |
1 |
19-38956834-C-G |
c.2974C>G |
p.H992D |
Missense |
24/106 |
- |
1 |
19-38956836-C-A |
c.2976C>A |
p.H992Q |
Missense |
24/106 |
- |
2 |
19-38956836-C-G |
c.2976C>G |
p.H992Q |
Missense |
24/106 |
- |
1 |
19-38956836-C-T |
c.2976C>T |
p.H992= |
Synonymous |
24/106 |
- |
1 |
19-38956839-C-T |
c.2979C>T |
p.N993= |
Synonymous |
24/106 |
- |
21 |
19-38956840-G-A |
c.2980G>A |
p.V994M |
Missense |
24/106 |
- |
1 |
19-38956841-T-A |
c.2981T>A |
p.V994E |
Missense |
24/106 |
- |
1 |
19-38956844-G-A |
c.2984G>A |
p.W995* |
Nonsense |
24/106 |
- |
2 |
19-38956845-G-C |
c.2985G>C |
p.W995C |
Missense |
24/106 |
- |
1 |
19-38956848-C-A |
c.2988C>A |
p.A996= |
Synonymous |
24/106 |
- |
1 |
19-38956848-C-G |
c.2988C>G |
p.A996= |
Synonymous |
24/106 |
- |
1 |
19-38956848-C-T |
c.2988C>T |
p.A996= |
Synonymous |
24/106 |
- |
2 |
19-38956849-C-T |
c.2989C>T |
p.R997* |
Nonsense |
24/106 |
- |
2 |
19-38956850-G-A |
c.2990G>A |
p.R997Q |
Missense |
24/106 |
- |
4 |
19-38956853-A-T |
c.2993A>T |
p.D998V |
Missense |
24/106 |
- |
1 |
19-38956854-C-T |
c.2994C>T |
p.D998= |
Synonymous |
24/106 |
- |
1 |
19-38956855-C-A |
c.2995C>A |
p.R999S |
Missense |
24/106 |
- |
2 |
19-38956855-C-G |
c.2995C>G |
p.R999G |
Missense |
24/106 |
- |
1 |
19-38956855-CGC-TGG |
c.2995_2997delinsTGG |
p.R999W |
Missense |
24/106 |
- |
1 |
19-38956855-C-T |
c.2995C>T |
p.R999C |
Missense |
24/106 |
- |
4 |
19-38956856-G-A |
c.2996G>A |
p.R999H |
Missense |
24/106 |
- |
5 |
19-38956857-C-A |
c.2997C>A |
p.R999= |
Synonymous |
24/106 |
- |
2 |
19-38956857-C-G |
c.2997C>G |
p.R999= |
Synonymous |
24/106 |
- |
2 |
19-38956857-C-T |
c.2997C>T |
p.R999= |
Synonymous |
24/106 |
- |
5 |
19-38956858-G-A |
c.2998G>A |
p.V1000M |
Missense |
24/106 |
- |
2 |
19-38956860-G-A |
c.3000G>A |
p.V1000= |
Synonymous |
24/106 |
- |
1 |
19-38956860-G-T |
c.3000G>T |
p.V1000= |
Synonymous |
24/106 |
- |
1 |
19-38956861-G-A |
c.3001G>A |
p.G1001S |
Missense |
24/106 |
- |
1 |
19-38956865-A-G |
c.3005A>G |
p.Q1002R |
Missense |
24/106 |
- |
2 |
19-38956866-G-A |
c.3006G>A |
p.Q1002= |
Synonymous |
24/106 |
- |
1 |
19-38956866-G-C |
c.3006G>C |
p.Q1002H |
Missense |
24/106 |
- |
1 |
19-38956866-G-T |
c.3006G>T |
p.Q1002H |
Missense |
24/106 |
- |
1 |
19-38956868-G-A |
c.3008G>A |
p.G1003D |
Missense |
24/106 |
- |
1 |
19-38956869-C-A |
c.3009C>A |
p.G1003= |
Synonymous |
24/106 |
- |
1 |
19-38956869-C-T |
c.3009C>T |
p.G1003= |
Synonymous |
24/106 |
- |
1 |
19-38956871-G-A |
c.3011G>A |
p.W1004* |
Nonsense |
24/106 |
- |
1 |
19-38956872-G-A |
c.3012G>A |
p.W1004* |
Nonsense |
24/106 |
- |
1 |
19-38956874-G-A |
c.3014G>A |
p.S1005N |
Missense |
24/106 |
- |
3 |
19-38956877-A-G |
c.3017A>G |
p.Y1006C |
Missense |
24/106 |
- |
1 |
19-38956881-C-T |
c.3021C>T |
p.S1007= |
Synonymous |
24/106 |
- |
3 |
19-38956882-G-A |
c.3022G>A |
p.A1008T |
Missense |
24/106 |
- |
2 |
19-38956885-GTG-ATC |
c.3025_3027delinsATC |
p.V1009I |
Missense |
24/106 |
- |
3 |
19-38956886-T-C |
c.3026T>C |
p.V1009A |
Missense |
24/106 |
- |
1 |
19-38956887-G-A |
c.3027G>A |
p.V1009= |
Synonymous |
24/106 |
- |
1 |
19-38956888-C-T |
c.3028C>T |
p.Q1010* |
Nonsense |
24/106 |
- |
1 |
19-38956890-G-T |
c.3030G>T |
p.Q1010H |
Missense |
24/106 |
- |
1 |
19-38956891-G-A |
c.3031G>A |
p.D1011N |
Missense |
24/106 |
- |
2 |
19-38956897-C-A |
c.3037C>A |
p.P1013T |
Missense |
24/106 |
- |
1 |
19-38956901-C-T |
c.3041C>T |
p.A1014V |
Missense |
24/106 |
- |
1 |
19-38956902-G-A |
c.3042G>A |
p.A1014= |
Synonymous |
24/106 |
- |
4 |
19-38956902-G-C |
c.3042G>C |
p.A1014= |
Synonymous |
24/106 |
- |
1 |
19-38956902-G-T |
c.3042G>T |
p.A1014= |
Synonymous |
24/106 |
- |
1 |
19-38956903-C-A |
c.3043C>A |
p.R1015S |
Missense |
24/106 |
- |
4 |
19-38956903-C-T |
c.3043C>T |
p.R1015C |
Missense |
24/106 |
- |
10 |
19-38956904-G-A |
c.3044G>A |
p.R1015H |
Missense |
24/106 |
- |
10 |
19-38956906-CGA-TGT |
c.3046_3048delinsTGT |
p.R1016C |
Missense |
24/106 |
- |
1 |
19-38956906-C-T |
c.3046C>T |
p.R1016* |
Nonsense |
24/106 |
- |
2 |
19-38956907-G-A |
c.3047G>A |
p.R1016Q |
Missense |
24/106 |
- |
9 |
19-38956912-C-G |
c.3052C>G |
p.P1018A |
Missense |
24/106 |
- |
1 |
19-38956912-C-T |
c.3052C>T |
p.P1018S |
Missense |
24/106 |
- |
6 |
19-38956914-T-A |
c.3054T>A |
p.P1018= |
Synonymous |
24/106 |
- |
1 |
19-38956914-T-C |
c.3054T>C |
p.P1018= |
Synonymous |
24/106 |
- |
1 |
19-38956914-T-G |
c.3054T>G |
p.P1018= |
Synonymous |
24/106 |
- |
1 |
19-38956915-C-G |
c.3055C>G |
p.R1019G |
Missense |
24/106 |
- |
2 |
19-38956915-C-T |
c.3055C>T |
p.R1019W |
Missense |
24/106 |
- |
3 |
19-38956916-GG-AT |
c.3056_3057delinsAT |
p.R1019H |
Missense |
24/106 |
- |
1 |
19-38956916-G-T |
c.3056G>T |
p.R1019L |
Missense |
24/106 |
- |
1 |
19-38956918-C-A |
c.3058C>A |
p.L1020M |
Missense |
24/106 |
- |
1 |
19-38956921-G-A |
c.3061G>A |
p.V1021M |
Missense |
24/106 |
- |
3 |
19-38956924-C-T |
c.3064C>T |
p.P1022S |
Missense |
24/106 |
- |
2 |
19-38956925-C-T |
c.3065C>T |
p.P1022L |
Missense |
24/106 |
- |
1 |
19-38956930-C-T |
c.3070C>T |
p.R1024C |
Missense |
24/106 |
- |
2 |
19-38956931-G-A |
c.3071G>A |
p.R1024H |
Missense |
24/106 |
- |
9 |
19-38956933-C-T |
c.3073C>T |
p.L1025= |
Synonymous |
24/106 |
- |
4 |
19-38956935-G-A |
c.3075G>A |
p.L1025= |
Synonymous |
24/106 |
- |
1 |
19-38956935-G-C |
c.3075G>C |
p.L1025= |
Synonymous |
24/106 |
- |
3 |
19-38956935-G-T |
c.3075G>T |
p.L1025= |
Synonymous |
24/106 |
- |
3 |
19-38956938-G-A |
c.3078G>A |
p.L1026= |
Synonymous |
24/106 |
- |
2 |
19-38956941-T-C |
c.3081T>C |
p.D1027= |
Synonymous |
24/106 |
- |
2 |
19-38956942-G-A |
c.3082G>A |
p.E1028K |
Missense |
24/106 |
- |
1 |
19-38956943-A-T |
c.3083A>T |
p.E1028V |
Missense |
24/106 |
- |
1 |
19-38956944-A-C |
c.3084A>C |
p.E1028D |
Missense |
24/106 |
- |
1 |
19-38956948-AC-TG |
c.3088_3089delinsTG |
p.T1030C |
Missense |
24/106 |
- |
1 |
19-38956952-A-T |
c.3092A>T |
p.K1031M |
Missense |
24/106 |
- |
1 |
19-38956953-G-A |
c.3093G>A |
p.K1031= |
Synonymous |
24/106 |
- |
3 |
19-38956953-G-C |
c.3093G>C |
p.K1031N |
Missense |
24/106 |
- |
1 |
19-38956953-G-T |
c.3093G>T |
p.K1031N |
Missense |
24/106 |
- |
1 |
19-38956954-C-G |
c.3094C>G |
p.R1032G |
Missense |
24/106 |
- |
1 |
19-38956954-C-T |
c.3094C>T |
p.R1032C |
Missense |
24/106 |
- |
4 |
19-38956955-G-A |
c.3095G>A |
p.R1032H |
Missense |
24/106 |
- |
2 |
19-38956958-G-A |
c.3098G>A |
p.S1033N |
Missense |
24/106 |
- |
2 |
19-38956960-A-T |
c.3100A>T |
p.N1034Y |
Missense |
24/106 |
- |
1 |
19-38956963-C-T |
c.3103C>T |
p.R1035W |
Missense |
24/106 |
- |
4 |
19-38956964-G-A |
c.3104G>A |
p.R1035Q |
Missense |
24/106 |
- |
1 |
19-38956964-GG-AT |
c.3104_3105delinsAT |
p.R1035H |
Missense |
24/106 |
- |
1 |
19-38956965-G-T |
c.3105G>T |
p.R1035= |
Synonymous |
24/106 |
- |
1 |
19-38956969-AG-CT |
c.3109_3110inv |
p.S1037L |
Missense |
24/106 |
- |
1 |
19-38956970-G-A |
c.3110G>A |
p.S1037N |
Missense |
24/106 |
- |
1 |
19-38956970-G-T |
c.3110G>T |
p.S1037I |
Missense |
24/106 |
- |
1 |
19-38956976-G-C |
c.3116G>C |
p.C1039S |
Missense |
24/106 |
- |
1 |
19-38956979-A-G |
c.3119A>G |
p.Q1040R |
Missense |
24/106 |
- |
1 |
19-38956981-G-A |
c.3121G>A |
p.A1041T |
Missense |
24/106 |
- |
2 |
19-38956984-G-A |
c.3124G>A |
p.V1042M |
Missense |
24/106 |
- |
2 |
19-38956984-G-T |
c.3124G>T |
p.V1042L |
Missense |
24/106 |
- |
1 |
19-38956984-GTG-TTT |
c.3124_3126delinsTTT |
p.V1042F |
Missense |
24/106 |
- |
1 |
19-38956987-CGC-TGG |
c.3127_3129delinsTGG |
p.R1043W |
Missense |
24/106 |
- |
1 |
19-38956987-C-T |
c.3127C>T |
p.R1043C |
Missense |
24/106 |
- |
13 |
19-38956988-G-A |
c.3128G>A |
p.R1043H |
Missense |
24/106 |
- |
8 |
19-38956994-T-C |
c.3134T>C |
p.L1045P |
Missense |
24/106 |
- |
1 |
19-38956997-T-C |
c.3137T>C |
p.L1046P |
Missense |
24/106 |
- |
1 |
19-38957001-C-A |
c.3141C>A |
p.G1047= |
Synonymous |
24/106 |
- |
1 |
19-38957005-G-A |
c.3145G>A |
p.G1049S |
Missense |
24/106 |
- |
1 |
19-38957016-C-T |
c.3156C>T |
p.I1052= |
Synonymous |
24/106 |
- |
2 |
19-38957020-C-T |
c.3160C>T |
p.P1054S |
Missense |
24/106 |
- |
2 |
19-38957021-C-A |
c.3161C>A |
p.P1054H |
Missense |
24/106 |
- |
4 |
19-38957023-C-T |
c.3163C>T |
p.P1055S |
Missense |
24/106 |
- |
1 |
19-38957024-C-A |
c.3164C>A |
p.P1055H |
Missense |
24/106 |
- |
3 |
19-38957026-G-C |
c.3166G>C |
p.D1056H |
Missense |
24/106 |
- |
2 |
19-38957032-G-A |
c.3172G>A |
p.E1058K |
Missense |
24/106 |
- |
4 |
19-38957036-C-A |
c.3176C>A |
p.P1059H |
Missense |
24/106 |
- |
2 |
19-38957036-C-T |
c.3176C>T |
p.P1059L |
Missense |
24/106 |
- |
1 |
19-38957139-A-G |
c.3178+101A>G |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38957420-C-T |
c.3178+382C>T |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38957546-A-G |
c.3178+508A>G |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38957571-G-C |
c.3178+533G>C |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38957571-G-T |
c.3178+533G>T |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38957809-C-A |
c.3179-441C>A |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38957809-C-T |
c.3179-441C>T |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38958097-C-T |
c.3179-153C>T |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38958128-C-T |
c.3179-122C>T |
- |
IntronicSNV |
- |
24/105 |
1 |
19-38958162-C-G |
c.3179-88C>G |
- |
IntronicSNV |
- |
24/105 |
2 |
19-38958162-C-T |
c.3179-88C>T |
- |
IntronicSNV |
- |
24/105 |
2 |
19-38958257-G-A |
c.3186G>A |
p.V1062= |
Synonymous |
25/106 |
- |
2 |
19-38958258-G-A |
c.3187G>A |
p.E1063K |
Missense |
25/106 |
- |
1 |
19-38958260-G-C |
c.3189G>C |
p.E1063D |
Missense |
25/106 |
- |
3 |
19-38958260-G-T |
c.3189G>T |
p.E1063D |
Missense |
25/106 |
- |
2 |
19-38958262-A-T |
c.3191A>T |
p.N1064I |
Missense |
25/106 |
- |
1 |
19-38958264-C-A |
c.3193C>A |
p.Q1065K |
Missense |
25/106 |
- |
1 |
19-38958266-G-C |
c.3195G>C |
p.Q1065H |
Missense |
25/106 |
- |
1 |
19-38958269-T-A |
c.3198T>A |
p.S1066= |
Synonymous |
25/106 |
- |
1 |
19-38958269-T-C |
c.3198T>C |
p.S1066= |
Synonymous |
25/106 |
- |
1 |
19-38958269-T-G |
c.3198T>G |
p.S1066= |
Synonymous |
25/106 |
- |
1 |
19-38958270-C-T |
c.3199C>T |
p.R1067C |
Missense |
25/106 |
- |
2 |
19-38958271-G-A |
c.3200G>A |
p.R1067H |
Missense |
25/106 |
- |
3 |
19-38958271-G-T |
c.3200G>T |
p.R1067L |
Missense |
25/106 |
- |
3 |
19-38958277-A-T |
c.3206A>T |
p.D1069V |
Missense |
25/106 |
- |
4 |
19-38958278-C-T |
c.3207C>T |
p.D1069= |
Synonymous |
25/106 |
- |
3 |
19-38958279-C-A |
c.3208C>A |
p.R1070= |
Synonymous |
25/106 |
- |
1 |
19-38958279-C-T |
c.3208C>T |
p.R1070W |
Missense |
25/106 |
- |
4 |
19-38958280-G-A |
c.3209G>A |
p.R1070Q |
Missense |
25/106 |
- |
1 |
19-38958285-C-T |
c.3214C>T |
p.R1072C |
Missense |
25/106 |
- |
5 |
19-38958286-G-A |
c.3215G>A |
p.R1072H |
Missense |
25/106 |
- |
8 |
19-38958288-A-T |
c.3217A>T |
p.I1073F |
Missense |
25/106 |
- |
1 |
19-38958294-C-T |
c.3223C>T |
p.R1075W |
Missense |
25/106 |
- |
4 |
19-38958295-G-A |
c.3224G>A |
p.R1075Q |
Missense |
25/106 |
- |
6 |
19-38958302-G-A |
c.3231G>A |
p.E1077= |
Synonymous |
25/106 |
- |
3 |
19-38958302-G-C |
c.3231G>C |
p.E1077D |
Missense |
25/106 |
- |
4 |
19-38958302-G-T |
c.3231G>T |
p.E1077D |
Missense |
25/106 |
- |
6 |
19-38958304-A-T |
c.3233A>T |
p.K1078I |
Missense |
25/106 |
- |
1 |
19-38958307-C-A |
c.3236C>A |
p.S1079Y |
Missense |
25/106 |
- |
1 |
19-38958307-C-T |
c.3236C>T |
p.S1079F |
Missense |
25/106 |
- |
4 |
19-38958308-C-T |
c.3237C>T |
p.S1079= |
Synonymous |