RYR1

RYR1 ryanodine receptor 1

Annotation transcript: NM_000540.3

9686 unique variant annotations were identified in 1863 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
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</