PNPLA3

PNPLA3 patatin like phospholipase domain containing 3

Annotation transcript: NM_025225.3

719 unique variant annotations were identified in 886 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
22-44319752-C-G c.-40C>G - 5-UTRSNV 1/9 - 1
22-44319797-C-T c.6C>T p.Y2= Synonymous 1/9 - 1
22-44319798-G-C c.7G>C p.D3H Missense 1/9 - 1
22-44319804-G-A c.13G>A p.E5K Missense 1/9 - 1
22-44319810-G-T c.19G>T p.G7C Missense 1/9 - 1
22-44319814-G-T c.23G>T p.W8L Missense 1/9 - 1
22-44319819-TT-CC c.28_29delinsCC p.L10P Missense 1/9 - 2
22-44319821-G-T c.30G>T p.L10F Missense 1/9 - 1
22-44319822-TCC-GAG c.31_33delinsGAG p.S11E Missense 1/9 - 1
22-44319822-TC-GA c.31_32inv p.S11D Missense 1/9 - 2
22-44319822-T-G c.31T>G p.S11A Missense 1/9 - 4
22-44319823-C-G c.32C>G p.S11C Missense 1/9 - 3
22-44319823-C-T c.32C>T p.S11F Missense 1/9 - 1
22-44319826-T-C c.35T>C p.F12S Missense 1/9 - 1
22-44319828-GC-CT c.37_38delinsCT p.A13L Missense 1/9 - 2
22-44319828-GCG-TGT c.37_39delinsTGT p.A13C Missense 1/9 - 1
22-44319830-G-A c.39G>A p.A13= Synonymous 1/9 - 1
22-44319830-G-C c.39G>C p.A13= Synonymous 1/9 - 1
22-44319830-G-T c.39G>T p.A13= Synonymous 1/9 - 1
22-44319832-G-T c.41G>T p.G14V Missense 1/9 - 2
22-44319836-C-T c.45C>T p.C15= Synonymous 1/9 - 1
22-44319837-G-C c.46G>C p.G16R Missense 1/9 - 1
22-44319840-T-C c.49T>C p.F17L Missense 1/9 - 1
22-44319842-C-A c.51C>A p.F17L Missense 1/9 - 1
22-44319842-C-G c.51C>G p.F17L Missense 1/9 - 1
22-44319842-C-T c.51C>T p.F17= Synonymous 1/9 - 1
22-44319847-G-C c.56G>C p.G19A Missense 1/9 - 1
22-44319852-T-C c.61T>C p.Y21H Missense 1/9 - 1
22-44319855-C-T c.64C>T p.H22Y Missense 1/9 - 2
22-44319858-G-A c.67G>A p.V23I Missense 1/9 - 2
22-44319858-G-C c.67G>C p.V23L Missense 1/9 - 1
22-44319860-C-T c.69C>T p.V23= Synonymous 1/9 - 1
22-44319861-G-T c.70G>T p.G24W Missense 1/9 - 1
22-44319865-C-A c.74C>A p.A25E Missense 1/9 - 2
22-44319865-CG-AC c.74_75delinsAC p.A25D Missense 1/9 - 1
22-44319873-TGC-GAG c.82_84delinsGAG p.C28E Missense 1/9 - 1
22-44319876-CTG-ATC c.85_87delinsATC p.L29I Missense 1/9 - 1
22-44319877-T-C c.86T>C p.L29P Missense 1/9 - 1
22-44319874-GCCTGAGCGAGCACGCCCCGCACCT-G c.87_110del p.S30_L37del InFrameDeletion 1/9 - 1
22-44319876-C-T c.85C>T p.L29= Synonymous 1/9 - 2
22-44319878-G-A c.87G>A p.L29= Synonymous 1/9 - 4
22-44319878-G-C c.87G>C p.L29= Synonymous 1/9 - 2
22-44319878-G-T c.87G>T p.L29= Synonymous 1/9 - 2
22-44319880-G-A c.89G>A p.S30N Missense 1/9 - 1
22-44319880-G-C c.89G>C p.S30T Missense 1/9 - 1
22-44319882-G-C c.91G>C p.E31Q Missense 1/9 - 1
22-44319882-G-T c.91G>T p.E31* Nonsense 1/9 - 1
22-44319885-C-T c.94C>T p.H32Y Missense 1/9 - 1
22-44319901-T-A c.110T>A p.L37H Missense 1/9 - 1
22-44319903-C-G c.112C>G p.R38G Missense 1/9 - 1
22-44319904-G-A c.113G>A p.R38H Missense 1/9 - 1
22-44319905-C-A c.114C>A p.R38= Synonymous 1/9 - 1
22-44319905-C-G c.114C>G p.R38= Synonymous 1/9 - 1
22-44319905-C-T c.114C>T p.R38= Synonymous 1/9 - 1
22-44319906-G-T c.115G>T p.D39Y Missense 1/9 - 1
22-44319907-A-G c.116A>G p.D39G Missense 1/9 - 1
22-44319913-G-T c.122G>T p.R41L Missense 1/9 - 1
22-44319915-A-G c.124A>G p.M42V Missense 1/9 - 2
22-44319918-T-A c.127T>A p.L43M Missense 1/9 - 1
22-44319923-C-A c.132C>A p.F44L Missense 1/9 - 1
22-44319927-G-A c.136G>A p.A46T Missense 1/9 - 1
22-44319930-T-G c.139T>G p.S47A Missense 1/9 - 17
22-44319931-C-T c.140C>T p.S47L Missense 1/9 - 1
22-44319933-GCC-TAA c.142_144delinsTAA p.A48* Nonsense 1/9 - 1
22-44319934-CC-AG c.143_144delinsAG p.A48E Missense 1/9 - 1
22-44319935-C-A c.144C>A p.A48= Synonymous 1/9 - 1
22-44319936-G-T c.145G>T p.G49W Missense 1/9 - 1
22-44319946-A-G c.155A>G p.H52R Missense 1/9 - 1
22-44319950-C-G c.159C>G p.C53W Missense 1/9 - 1
22-44319951-G-C c.160G>C p.V54L Missense 1/9 - 1
22-44319953-C-T c.162C>T p.V54= Synonymous 1/9 - 1
22-44319955-G-A c.164G>A p.G55D Missense 1/9 - 1
22-44319958-T-C c.167T>C p.V56A Missense 1/9 - 2
22-44319960-C-T c.169C>T p.L57F Missense 1/9 - 1
22-44319964-C-T c.173C>T p.S58F Missense 1/9 - 1
22-44319967-GT-AG c.176_177delinsAG p.G59E Missense 1/9 - 1
22-44320199-G-A c.187+221G>A - IntronicSNV - 1/8 1
22-44321641-G-A c.188-1174G>A - IntronicSNV - 1/8 1
22-44322821-C-A c.194C>A p.T65N Missense 2/9 - 1
22-44322821-C-T c.194C>T p.T65I Missense 2/9 - 1
22-44322826-C-T c.199C>T p.Q67* Nonsense 2/9 - 3
22-44322827-A-G c.200A>G p.Q67R Missense 2/9 - 1
22-44322827-A-T c.200A>T p.Q67L Missense 2/9 - 3
22-44322828-G-C c.201G>C p.Q67H Missense 2/9 - 1
22-44322828-G-T c.201G>T p.Q67H Missense 2/9 - 1
22-44322834-C-A c.207C>A p.L69= Synonymous 2/9 - 1
22-44322834-C-G c.207C>G p.L69= Synonymous 2/9 - 1
22-44322834-C-T c.207C>T p.L69= Synonymous 2/9 - 1
22-44322836-C-G c.209C>G p.S70* Nonsense 2/9 - 1
22-44322841-CTT-ATG c.214_216delinsATG p.L72M Missense 2/9 - 1
22-44322843-T-C c.216T>C p.L72= Synonymous 2/9 - 2
22-44322846-G-T c.219G>T p.V73= Synonymous 2/9 - 1
22-44322848-G-A c.221G>A p.R74Q Missense 2/9 - 1
22-44322850-A-C c.223A>C p.K75Q Missense 2/9 - 1
22-44322859-AG-TT c.232_233delinsTT p.S78F Missense 2/9 - 1
22-44322860-G-T c.233G>T p.S78I Missense 2/9 - 2
22-44322862-C-T c.235C>T p.R79W Missense 2/9 - 2
22-44322869-T-G c.242T>G p.I81S Missense 2/9 - 1
22-44322872-G-A c.245G>A p.G82D Missense 2/9 - 1
22-44322874-A-G c.247A>G p.I83V Missense 2/9 - 2
22-44322883-C-T c.256C>T p.P86S Missense 2/9 - 1
22-44322890-T-C c.263T>C p.F88S Missense 2/9 - 1
22-44322897-TAAG-T c.270_272del p.L90_S91delinsF MultiAAMissense 2/9 - 1
22-44322901-A-G c.274A>G p.K92E Missense 2/9 - 1
22-44322909-C-A c.282C>A p.L94= Synonymous 2/9 - 1
22-44322909-C-G c.282C>G p.L94= Synonymous 2/9 - 1
22-44322909-C-T c.282C>T p.L94= Synonymous 2/9 - 1
22-44322910-C-T c.283C>T p.R95* Nonsense 2/9 - 4
22-44322911-G-A c.284G>A p.R95Q Missense 2/9 - 1
22-44322913-C-T c.286C>T p.Q96* Nonsense 2/9 - 1
22-44322914-A-G c.287A>G p.Q96R Missense 2/9 - 1
22-44322915-G-C c.288G>C p.Q96H Missense 2/9 - 1
22-44322915-G-T c.288G>T p.Q96H Missense 2/9 - 1
22-44322916-G-A c.289G>A p.G97S Missense 2/9 - 1
22-44322922-T-A c.295T>A p.C99S Missense 2/9 - 6
22-44322922-T-C c.295T>C p.C99R Missense 2/9 - 8
22-44322922-T-G c.295T>G p.C99G Missense 2/9 - 19
22-44322924-C-T c.297C>T p.C99= Synonymous 2/9 - 1
22-44322931-C-A c.304C>A p.L102I Missense 2/9 - 2
22-44322935-C-T c.308C>T p.P103L Missense 2/9 - 4
22-44322937-G-A c.310G>A p.A104T Missense 2/9 - 1
22-44322938-C-T c.311C>T p.A104V Missense 2/9 - 1
22-44322939-C-A c.312C>A p.A104= Synonymous 2/9 - 1
22-44322939-C-G c.312C>G p.A104= Synonymous 2/9 - 1
22-44322939-C-T c.312C>T p.A104= Synonymous 2/9 - 1
22-44322943-G-A c.316G>A p.V106I Missense 2/9 - 1
22-44322946-C-A c.319C>A p.H107N Missense 2/9 - 1
22-44322954-C-A c.327C>A p.L109= Synonymous 2/9 - 3
22-44322954-C-G c.327C>G p.L109= Synonymous 2/9 - 2
22-44322954-C-T c.327C>T p.L109= Synonymous 2/9 - 2
22-44322955-A-C c.328A>C p.I110L Missense 2/9 - 1
22-44322958-T-C c.331T>C p.S111P Missense 2/9 - 1
22-44322959-C-A c.332C>A p.S111Y Missense 2/9 - 3
22-44322960-C-T c.333C>T p.S111= Synonymous 2/9 - 1
22-44322961-G-A c.334G>A p.G112S Missense 2/9 - 5
22-44322966-A-C c.339A>C p.K113N Missense 2/9 - 1
22-44322966-A-T c.339A>T p.K113N Missense 2/9 - 1
22-44322967-A-G c.340A>G p.I114V Missense 2/9 - 1
22-44322970-G-T c.343G>T p.G115C Missense 2/9 - 20
22-44322971-G-A c.344G>A p.G115D Missense 2/9 - 1
22-44322972-C-A c.345C>A p.G115= Synonymous 2/9 - 2
22-44322972-C-G c.345C>G p.G115= Synonymous 2/9 - 2
22-44322972-C-T c.345C>T p.G115= Synonymous 2/9 - 2
22-44322977-C-A c.350C>A p.S117Y Missense 2/9 - 1
22-44322977-C-G c.350C>G p.S117C Missense 2/9 - 1
22-44322977-C-T c.350C>T p.S117F Missense 2/9 - 2
22-44322980-T-C c.353T>C p.L118P Missense 2/9 - 1
22-44322980-T-G c.353T>G p.L118R Missense 2/9 - 1
22-44322984-C-T c.357C>T p.T119= Synonymous 2/9 - 2
22-44322994-G-A c.367G>A p.D123N Missense 2/9 - 1
22-44322996-T-A c.369T>A p.D123E Missense 2/9 - 2
22-44322997-G-T c.370G>T p.G124W Missense 2/9 - 1
22-44322998-G-A c.371G>A p.G124E Missense 2/9 - 2
22-44323000-G-A c.373G>A p.E125K Missense 2/9 - 2
22-44323006-G-A c.379G>A p.V127I Missense 2/9 - 1
22-44323011-G-T c.384G>T p.L128= Synonymous 2/9 - 1
22-44323012-G-C c.385G>C p.V129L Missense 2/9 - 1
22-44323012-G-T c.385G>T p.V129L Missense 2/9 - 1
22-44323020-C-A c.393C>A p.D131E Missense 2/9 - 1
22-44323020-C-G c.393C>G p.D131E Missense 2/9 - 1
22-44323025-G-A c.398G>A p.R133Q Missense 2/9 - 3
22-44323026-G-T c.399G>T p.R133= Synonymous 2/9 - 2
22-44323027-TC-AA c.400_401delinsAA p.S134N Missense 2/9 - 1
22-44323028-CC-GT c.401_402delinsGT p.S134C Missense 2/9 - 1
22-44323028-C-G c.401C>G p.S134C Missense 2/9 - 4
22-44323033-G-T c.406G>T p.D136Y Missense 2/9 - 3
22-44323035-C-A c.408C>A p.D136E Missense 2/9 - 2
22-44323035-C-G c.408C>G p.D136E Missense 2/9 - 2
22-44323035-C-T c.408C>T p.D136= Synonymous 2/9 - 1
22-44323036-G-A c.409G>A p.E137K Missense 2/9 - 1
22-44323041-C-T c.414C>T p.V138= Synonymous 2/9 - 1
22-44323042-G-A c.415G>A p.V139M Missense 2/9 - 2
22-44323042-G-T c.415G>T p.V139L Missense 2/9 - 1
22-44323048-G-A c.420+1G>A - IntronicSNV - 2/8 1
22-44323070-C-T c.420+23C>T - IntronicSNV - 2/8 1
22-44323074-G-A c.420+27G>A - IntronicSNV - 2/8 10
22-44323129-G-A c.420+82G>A - IntronicSNV - 2/8 1
22-44323129-G-C c.420+82G>C - IntronicSNV - 2/8 1
22-44323219-A-C c.420+172A>C - IntronicSNV - 2/8 2
22-44323219-A-G c.420+172A>G - IntronicSNV - 2/8 2
22-44323955-T-A c.421-749T>A - IntronicSNV - 2/8 4
22-44323955-T-C c.421-749T>C - IntronicSNV - 2/8 4
22-44323955-T-G c.421-749T>G - IntronicSNV - 2/8 4
22-44324104-C-T c.421-600C>T - IntronicSNV - 2/8 1
22-44324181-G-A c.421-523G>A - IntronicSNV - 2/8 1
22-44324676-A-G c.421-28A>G - IntronicSNV - 2/8 22
22-44324704-G-A c.421G>A p.A141T Missense 3/9 - 1
22-44324709-G-C c.426G>C p.L142F Missense 3/9 - 1
22-44324709-G-T c.426G>T p.L142F Missense 3/9 - 1
22-44324713-T-G c.430T>G p.C144G Missense 3/9 - 1
22-44324716-TC-CT c.433_434delinsCT p.S145L Missense 3/9 - 1
22-44324718-C-T c.435C>T p.S145= Synonymous 3/9 - 1
22-44324725-A-G c.442A>G p.I148V Missense 3/9 - 3
22-44324725-AT-TG c.442_443delinsTG p.I148C Missense 3/9 - 1
22-44324726-T-C c.443T>C p.I148T Missense 3/9 - 1
22-44324727-C-A c.444C>A p.I148= Synonymous 3/9 - 3
22-44324727-C-G c.444C>G p.I148M Missense 3/9 - 1210
22-44324727-C-T c.444C>T p.I148= Synonymous 3/9 - 12
22-44324728-C-G c.445C>G p.P149A Missense 3/9 - 1
22-44324729-C-T c.446C>T p.P149L Missense 3/9 - 1
22-44324730-C-A c.447C>A p.P149= Synonymous 3/9 - 1
22-44324730-C-G c.447C>G p.P149= Synonymous 3/9 - 1
22-44324730-C-T c.447C>T p.P149= Synonymous 3/9 - 55
22-44324736-C-A c.453C>A p.Y151* Nonsense 3/9 - 1
22-44324736-C-G c.453C>G p.Y151* Nonsense 3/9 - 2
22-44324738-G-A c.455G>A p.S152N Missense 3/9 - 1
22-44324738-G-T c.455G>T p.S152I Missense 3/9 - 1
22-44324740-G-A c.457G>A p.G153S Missense 3/9 - 1
22-44324741-G-A c.458G>A p.G153D Missense 3/9 - 1
22-44324743-C-T c.460C>T p.L154F Missense 3/9 - 1
22-44324747-T-C c.464T>C p.I155T Missense 3/9 - 1
22-44324748-C-G c.465C>G p.I155M Missense 3/9 - 1
22-44324752-C-T c.469C>T p.P157S Missense 3/9 - 1
22-44324756-C-T c.473C>T p.S158F Missense 3/9 - 1
22-44324757-C-T c.474C>T p.S158= Synonymous 3/9 - 1
22-44324760-C-A c.477C>A p.F159L Missense 3/9 - 1
22-44324761-AGA-TGT c.478_480delinsTGT p.R160C Missense 3/9 - 1
22-44324762-G-T c.479G>T p.R160I Missense 3/9 - 1
22-44324764-G-A c.481G>A p.G161S Missense 3/9 - 2
22-44324766-C-T c.483C>T p.G161= Synonymous 3/9 - 1
22-44324767-G-A c.484G>A p.V162M Missense 3/9 - 8
22-44324769-G-A c.486G>A p.V162= Synonymous 3/9 - 1
22-44324769-G-C c.486G>C p.V162= Synonymous 3/9 - 1
22-44324769-G-T c.486G>T p.V162= Synonymous 3/9 - 1
22-44324842-G-A c.486+73G>A - IntronicSNV - 3/8 1
22-44324855-G-A c.486+86G>A - IntronicSNV - 3/8 21
22-44325516-G-A c.486+747G>A - IntronicSNV - 3/8 1
22-44325516-G-T c.486+747G>T - IntronicSNV - 3/8 1
22-44325565-C-T c.486+796C>T - IntronicSNV - 3/8 1
22-44325631-C-T c.486+862C>T - IntronicSNV - 3/8 2
22-44325855-C-A c.486+1086C>A - IntronicSNV - 3/8 1
22-44325996-G-A c.486+1227G>A - IntronicSNV - 3/8 11
22-44325996-G-C c.486+1227G>C - IntronicSNV - 3/8 11
22-44325996-G-T c.486+1227G>T - IntronicSNV - 3/8 11
22-44326272-T-C c.486+1503T>C - IntronicSNV - 3/8 1
22-44326700-C-T c.486+1931C>T - IntronicSNV - 3/8 1
22-44327179-G-A c.487-1579G>A - IntronicSNV - 3/8 1
22-44327192-A-G c.487-1566A>G - IntronicSNV - 3/8 1
22-44327273-A-G c.487-1485A>G - IntronicSNV - 3/8 1
22-44328043-T-C c.487-715T>C - IntronicSNV - 3/8 3
22-44328730-G-A c.487-28G>A - IntronicSNV - 3/8 24
22-44328758-C-T c.487C>T p.R163* Nonsense 4/9 - 2
22-44328764-G-A c.493G>A p.V165M Missense 4/9 - 1
22-44328772-A-C c.501A>C p.G167= Synonymous 4/9 - 1
22-44328772-A-G c.501A>G p.G167= Synonymous 4/9 - 1
22-44328772-A-T c.501A>T p.G167= Synonymous 4/9 - 1
22-44328777-T-C c.506T>C p.V169A Missense 4/9 - 1
22-44328779-A-C c.508A>C p.S170R Missense 4/9 - 1
22-44328781-T-A c.510T>A p.S170R Missense 4/9 - 1
22-44328781-T-G c.510T>G p.S170R Missense 4/9 - 1
22-44328788-G-A c.517G>A p.V173I Missense 4/9 - 2
22-44328791-C-T c.520C>T p.P174S Missense 4/9 - 2
22-44328793-C-A c.522C>A p.P174= Synonymous 4/9 - 3
22-44328793-C-G c.522C>G p.P174= Synonymous 4/9 - 2
22-44328793-C-T c.522C>T p.P174= Synonymous 4/9 - 2
22-44328797-A-C c.526A>C p.I176L Missense 4/9 - 1
22-44328798-T-C c.527T>C p.I176T Missense 4/9 - 1
22-44328800-G-T c.529G>T p.D177Y Missense 4/9 - 1
22-44328812-A-G c.541A>G p.T181A Missense 4/9 - 1
22-44328816-T-C c.545T>C p.I182T Missense 4/9 - 1
22-44328818-A-T c.547A>T p.T183S Missense 4/9 - 1
22-44328819-C-G c.548C>G p.T183S Missense 4/9 - 1
22-44328819-C-T c.548C>T p.T183I Missense 4/9 - 1
22-44328820-C-T c.549C>T p.T183= Synonymous 4/9 - 1
22-44328821-G-A c.550G>A p.V184M Missense 4/9 - 1
22-44328823-G-T c.552G>T p.V184= Synonymous 4/9 - 1
22-44328824-T-C c.553T>C p.S185P Missense 4/9 - 2
22-44328825-C-T c.554C>T p.S185F Missense 4/9 - 2
22-44328827-C-T c.556C>T p.P186S Missense 4/9 - 3
22-44328828-C-A c.557C>A p.P186H Missense 4/9 - 1
22-44328828-C-T c.557C>T p.P186L Missense 4/9 - 1
22-44328830-T-C c.559T>C p.F187L Missense 4/9 - 1
22-44328832-C-A c.561C>A p.F187L Missense 4/9 - 1
22-44328832-C-G c.561C>G p.F187L Missense 4/9 - 3
22-44328832-C-T c.561C>T p.F187= Synonymous 4/9 - 7
22-44328833-T-C c.562T>C p.Y188H Missense 4/9 - 1
22-44328835-T-TG c.568dup p.E190Gfs*7 Frameshift 4/9 - 1
22-44328839-G-A c.568G>A p.E190K Missense 4/9 - 2
22-44328845-G-A c.574G>A p.D192N Missense 4/9 - 4
22-44328850-C-G c.579C>G p.I193M Missense 4/9 - 1
22-44328851-T-C c.580T>C p.C194R Missense 4/9 - 2
22-44328851-T-G c.580T>G p.C194G Missense 4/9 - 1
22-44328853-C-T c.582C>T p.C194= Synonymous 4/9 - 2
22-44328854-C-T c.583C>T p.P195S Missense 4/9 - 1
22-44328855-C-T c.584C>T p.P195L Missense 4/9 - 2
22-44328860-G-T c.589G>T p.V197F Missense 4/9 - 1
22-44328860-GTC-ATG c.589_591delinsATG p.V197M Missense 4/9 - 1
22-44328870-C-T c.599C>T p.T200M Missense 4/9 - 2
22-44328871-G-A c.600G>A p.T200= Synonymous 4/9 - 4
22-44328871-G-C c.600G>C p.T200= Synonymous 4/9 - 2
22-44328871-G-T c.600G>T p.T200= Synonymous 4/9 - 2
22-44328879-T-A c.608T>A p.L203H Missense 4/9 - 1
22-44328887-G-A c.616G>A p.D206N Missense 4/9 - 1
22-44328889-C-A c.618C>A p.D206E Missense 4/9 - 1
22-44328889-C-G c.618C>G p.D206E Missense 4/9 - 1
22-44328892-C-T c.621C>T p.I207= Synonymous 4/9 - 1
22-44328893-A-G c.622A>G p.T208A Missense 4/9 - 4
22-44328896-A-G c.625A>G p.K209E Missense 4/9 - 1
22-44328899-C-T c.628C>T p.L210F Missense 4/9 - 2
22-44328899-CTC-TGG c.628_630delinsTGG p.L210W Missense 4/9 - 1
22-44328900-T-C c.629T>C p.L210P Missense 4/9 - 1
22-44328905-C-G c.634C>G p.L212V Missense 4/9 - 3
22-44328908-C-G c.637C>G p.R213G Missense 4/9 - 1
22-44328908-C-T c.637C>T p.R213C Missense 4/9 - 1
22-44328909-G-A c.638G>A p.R213H Missense 4/9 - 1
22-44328911-C-T c.640C>T p.L214F Missense 4/9 - 1
22-44328917-A-C c.646A>C p.T216P Missense 4/9 - 3
22-44328919-A-G c.648A>G p.T216= Synonymous 4/9 - 1
22-44328921-G-T c.650G>T p.G217V Missense 4/9 - 1
22-44328930-A-G c.659A>G p.Y220C Missense 4/9 - 6
22-44328933-TT-AA c.662_663inv p.L221Q Missense 4/9 - 1
22-44328939-C-T c.668C>T p.S223L Missense 4/9 - 1
22-44328940-G-A c.669G>A p.S223= Synonymous 4/9 - 1
22-44328950-G-A c.679G>A p.V227I Missense 4/9 - 1
22-44328951-T-C c.680T>C p.V227A Missense 4/9 - 6
22-44328952-C-A c.681C>A p.V227= Synonymous 4/9 - 2
22-44328952-C-G c.681C>G p.V227= Synonymous 4/9 - 2
22-44328952-C-T c.681C>T p.V227= Synonymous 4/9 - 2
22-44328953-C-T c.682C>T p.P228S Missense 4/9 - 7
22-44328954-C-T c.683C>T p.P228L Missense 4/9 - 1
22-44328955-C-A c.684C>A p.P228= Synonymous 4/9 - 1
22-44328955-C-G c.684C>G p.P228= Synonymous 4/9 - 1
22-44328955-C-T c.684C>T p.P228= Synonymous 4/9 - 3
22-44328951-TC-T c.686del p.P229Rfs*34 Frameshift 4/9 - 3
22-44328957-C-G c.686C>G p.P229R Missense 4/9 - 1
22-44328957-C-T c.686C>T p.P229L Missense 4/9 - 1
22-44328958-G-C c.687G>C p.P229= Synonymous 4/9 - 3
22-44328960-A-G c.689A>G p.D230G Missense 4/9 - 4
22-44328962-C-A c.691C>A p.L231I Missense 4/9 - 1
22-44328965-AA-GC c.694_695delinsGC p.K232A Missense 4/9 - 1
22-44329078-C-A c.696+111C>A - IntronicSNV - 4/8 5
22-44329078-C-T c.696+111C>T - IntronicSNV - 4/8 5
22-44329264-AT-A c.696+306del - IntronicDeletion - 4/8 1
22-44329275-G-A c.696+308G>A - IntronicSNV - 4/8 2
22-44329275-G-T c.696+308G>T - IntronicSNV - 4/8 2
22-44330031-C-T c.697-455C>T - IntronicSNV - 4/8 2
22-44330128-T-C c.697-358T>C - IntronicSNV - 4/8 2
22-44330128-T-G c.697-358T>G - IntronicSNV - 4/8 2
22-44330274-G-A c.697-212G>A - IntronicSNV - 4/8 1
22-44330481-C-A c.697-5C>A - IntronicSNV - 4/8 1
22-44330488-G-A c.699G>A p.V233= Synonymous 5/9 - 1
22-44330488-G-C c.699G>C p.V233= Synonymous 5/9 - 1
22-44330488-G-T c.699G>T p.V233= Synonymous 5/9 - 1
22-44330489-C-A c.700C>A p.L234M Missense 5/9 - 1
22-44330490-T-C c.701T>C p.L234P Missense 5/9 - 2
22-44330492-G-T c.703G>T p.G235* Nonsense 5/9 - 1
22-44330494-A-T c.705A>T p.G235= Synonymous 5/9 - 1
22-44330498-A-G c.709A>G p.I237V Missense 5/9 - 1
22-44330500-A-G c.711A>G p.I237M Missense 5/9 - 3
22-44330502-G-A c.713G>A p.C238Y Missense 5/9 - 1
22-44330507-CGA-TGT c.718_720delinsTGT p.R240C Missense 5/9 - 1
22-44330507-C-T c.718C>T p.R240* Nonsense 5/9 - 4
22-44330508-G-A c.719G>A p.R240Q Missense 5/9 - 1
22-44330510-G-A c.721G>A p.G241R Missense 5/9 - 1
22-44330510-G-C c.721G>C p.G241R Missense 5/9 - 1
22-44330515-T-A c.726T>A p.Y242* Nonsense 5/9 - 3
22-44330515-T-G c.726T>G p.Y242* Nonsense 5/9 - 1
22-44330522-G-C c.733G>C p.A245P Missense 5/9 - 1
22-44330532-T-G c.743T>G p.F248C Missense 5/9 - 1
22-44330533-C-T c.744C>T p.F248= Synonymous 5/9 - 2
22-44330535-T-G c.746T>G p.L249W Missense 5/9 - 1
22-44330536-G-A c.747G>A p.L249= Synonymous 5/9 - 1
22-44330537-G-A c.748G>A p.E250K Missense 5/9 - 1
22-44330537-G-T c.748G>T p.E250* Nonsense 5/9 - 1
22-44330540-G-C c.751G>C p.E251Q Missense 5/9 - 1
22-44330541-A-G c.752A>G p.E251G Missense 5/9 - 1
22-44330542-G-C c.753G>C p.E251D Missense 5/9 - 1
22-44330542-G-T c.753G>T p.E251D Missense 5/9 - 1
22-44330545-G-T c.756G>T p.K252N Missense 5/9 - 1
22-44330546-G-A c.757G>A p.G253S Missense 5/9 - 1
22-44331060-G-A c.757+514G>A - IntronicSNV - 5/8 1
22-44331060-G-C c.757+514G>C - IntronicSNV - 5/8 1
22-44331513-C-G c.757+967C>G - IntronicSNV - 5/8 1
22-44331778-C-A c.758-1153C>A - IntronicSNV - 5/8 2
22-44331778-C-G c.758-1153C>G - IntronicSNV - 5/8 2
22-44331778-C-T c.758-1153C>T - IntronicSNV - 5/8 2
22-44331815-C-G c.758-1116C>G - IntronicSNV - 5/8 2
22-44331943-G-A c.758-988G>A - IntronicSNV - 5/8 2
22-44332477-T-C c.758-454T>C - IntronicSNV - 5/8 1
22-44332493-T-C c.758-438T>C - IntronicSNV - 5/8 1
22-44332570-G-A c.758-361G>A - IntronicSNV - 5/8 48
22-44332653-C-G c.758-278C>G - IntronicSNV - 5/8 6
22-44332685-A-C c.758-246A>C - IntronicSNV - 5/8 2
22-44332685-A-G c.758-246A>G - IntronicSNV - 5/8 2
22-44332685-A-T c.758-246A>T - IntronicSNV - 5/8 2
22-44332878-C-A c.758-53C>A - IntronicSNV - 5/8 4
22-44332878-C-G c.758-53C>G - IntronicSNV - 5/8 4
22-44332878-C-T c.758-53C>T - IntronicSNV - 5/8 4
22-44332888-T-TC c.758-40dup - IntronicInsertion - 5/8 4
22-44332931-G-A c.758G>A p.G253D Missense 6/9 - 1
22-44332942-A-T c.769A>T p.R257W Missense 6/9 - 2
22-44332945-C-T c.772C>T p.P258S Missense 6/9 - 1
22-44332946-C-T c.773C>T p.P258L Missense 6/9 - 4
22-44332948-C-A c.775C>A p.Q259K Missense 6/9 - 1
22-44332949-CA-C c.776del p.Q259Rfs*4 Frameshift 6/9 - 1
22-44332951-C-T c.778C>T p.P260S Missense 6/9 - 3
22-44332955-GC-AG c.782_783delinsAG p.G261E Missense 6/9 - 1
22-44332960-A-C c.787A>C p.K263Q Missense 6/9 - 1
22-44332964-C-T c.791C>T p.S264L Missense 6/9 - 2
22-44332967-C-G c.794C>G p.S265C Missense 6/9 - 1
22-44332967-C-T c.794C>T p.S265F Missense 6/9 - 2
22-44332968-C-A c.795C>A p.S265= Synonymous 6/9 - 1
22-44332968-C-G c.795C>G p.S265= Synonymous 6/9 - 1
22-44332968-C-T c.795C>T p.S265= Synonymous 6/9 - 3
22-44332970-C-T c.797C>T p.S266L Missense 6/9 - 2
22-44332972-G-A c.799G>A p.E267K Missense 6/9 - 1
22-44332975-G-A c.802G>A p.G268R Missense 6/9 - 3
22-44332975-G-C c.802G>C p.G268R Missense 6/9 - 1
22-44332976-G-A c.803G>A p.G268E Missense 6/9 - 2
22-44332978-A-T c.805A>T p.M269L Missense 6/9 - 4
22-44332985-C-A c.812C>A p.P271H Missense 6/9 - 1
22-44332985-C-T c.812C>T p.P271L Missense 6/9 - 1
22-44332986-T-C c.813T>C p.P271= Synonymous 6/9 - 1
22-44332987-G-A c.814G>A p.E272K Missense 6/9 - 1
22-44332988-A-T c.815A>T p.E272V Missense 6/9 - 1
22-44332992-C-A c.819C>A p.V273= Synonymous 6/9 - 1
22-44332992-C-G c.819C>G p.V273= Synonymous 6/9 - 1
22-44332992-C-T c.819C>T p.V273= Synonymous 6/9 - 2
22-44332993-G-A c.820G>A p.A274T Missense 6/9 - 2
22-44332999-C-G c.826C>G p.P276A Missense 6/9 - 1
22-44333000-C-A c.827C>A p.P276H Missense 6/9 - 1
22-44333008-G-T c.835G>T p.A279S Missense 6/9 - 1
22-44333014-A-G c.841A>G p.M281V Missense 6/9 - 2
22-44333018-G-A c.845G>A p.S282N Missense 6/9 - 3
22-44333018-G-C c.845G>C p.S282T Missense 6/9 - 1
22-44333020-C-A c.847C>A p.L283M Missense 6/9 - 1
22-44333022-G-A c.849G>A p.L283= Synonymous 6/9 - 1
22-44333026-TC-CT c.853_854delinsCT p.S285L Missense 6/9 - 1
22-44333027-C-A c.854C>A p.S285Y Missense 6/9 - 1
22-44333031-C-T c.858C>T p.S286= Synonymous 6/9 - 1
22-44333032-C-T c.859C>T p.P287S Missense 6/9 - 3
22-44333033-C-T c.860C>T p.P287L Missense 6/9 - 1
22-44333034-G-A c.861G>A p.P287= Synonymous 6/9 - 1
22-44333035-G-A c.862G>A p.E288K Missense 6/9 - 1
22-44333036-A-T c.863A>T p.E288V Missense 6/9 - 1
22-44333039-C-T c.866C>T p.S289L Missense 6/9 - 1
22-44333040-G-A c.867G>A p.S289= Synonymous 6/9 - 2
22-44333040-G-C c.867G>C p.S289= Synonymous 6/9 - 1
22-44333040-G-T c.867G>T p.S289= Synonymous 6/9 - 1
22-44333044-G-T c.871G>T p.A291S Missense 6/9 - 1
22-44333050-G-A c.877G>A p.A293T Missense 6/9 - 1
22-44333050-G-C c.877G>C p.A293P Missense 6/9 - 1
22-44333053-GTG-ATC c.880_882delinsATC p.V294I Missense 6/9 - 1
22-44333060-T-C c.887T>C p.L296P Missense 6/9 - 4
22-44333062-G-A c.889G>A p.E297K Missense 6/9 - 1
22-44333062-G-C c.889G>C p.E297Q Missense 6/9 - 1
22-44333063-A-G c.890A>G p.E297G Missense 6/9 - 1
22-44333065-GGA-TGT c.892_894delinsTGT p.G298C Missense 6/9 - 1
22-44333069-A-G c.896A>G p.D299G Missense 6/9 - 1
22-44333069-A-T c.896A>T p.D299V Missense 6/9 - 1
22-44333086-C-A c.913C>A p.L305M Missense 6/9 - 1
22-44333089-C-T c.916C>T p.R306C Missense 6/9 - 1
22-44333090-G-A c.917G>A p.R306H Missense 6/9 - 2
22-44333094-C-G c.921C>G p.L307= Synonymous 6/9 - 1
22-44333103-G-T c.930G>T p.L310= Synonymous 6/9 - 1
22-44333104-C-T c.931C>T p.P311S Missense 6/9 - 2
22-44333108-G-A c.935G>A p.W312* Nonsense 6/9 - 1
22-44333109-G-A c.936G>A p.W312* Nonsense 6/9 - 1
22-44333110-G-A c.937G>A p.D313N Missense 6/9 - 1
22-44333111-A-T c.938A>T p.D313V Missense 6/9 - 1
22-44333113-G-A c.940G>A p.E314K Missense 6/9 - 1
22-44333116-A-C c.943A>C p.S315R Missense 6/9 - 3
22-44333117-G-T c.944G>T p.S315I Missense 6/9 - 1
22-44333118-C-A c.945C>A p.S315R Missense 6/9 - 1
22-44333118-C-G c.945C>G p.S315R Missense 6/9 - 1
22-44333119-A-C c.946A>C p.I316L Missense 6/9 - 1
22-44333121-C-A c.948C>A p.I316= Synonymous 6/9 - 1
22-44333121-C-T c.948C>T p.I316= Synonymous 6/9 - 1
22-44333122-CTG-TTT c.949_951delinsTTT p.L317F Missense 6/9 - 1
22-44333128-A-T c.955A>T p.T319S Missense 6/9 - 1
22-44333129-C-G c.956C>G p.T319S Missense 6/9 - 1
22-44333129-C-T c.956C>T p.T319I Missense 6/9 - 4
22-44333130-C-T c.957C>T p.T319= Synonymous 6/9 - 1
22-44333132-T-C c.959T>C p.L320P Missense 6/9 - 1
22-44333133-C-A c.960C>A p.L320= Synonymous 6/9 - 2
22-44333133-C-G c.960C>G p.L320= Synonymous 6/9 - 2
22-44333133-C-T c.960C>T p.L320= Synonymous 6/9 - 2
22-44333134-T-C c.961T>C p.S321P Missense 6/9 - 2
22-44333135-C-T c.962C>T p.S321L Missense 6/9 - 1
22-44333136-G-T c.963G>T p.S321= Synonymous 6/9 - 1
22-44333137-C-T c.964C>T p.P322S Missense 6/9 - 1
22-44333143-C-T c.970C>T p.L324F Missense 6/9 - 1
22-44333149-A-T c.976A>T p.T326S Missense 6/9 - 1
22-44333161-T-A c.979+9T>A - IntronicSNV - 6/8 1
22-44333172-A-G c.979+20A>G - IntronicSNV - 6/8 11
22-44333370-A-G c.979+218A>G - IntronicSNV - 6/8 1
22-44333479-C-G c.979+327C>G - IntronicSNV - 6/8 1
22-44333479-C-T c.979+327C>T - IntronicSNV - 6/8 1
22-44333694-T-G c.979+542T>G - IntronicSNV - 6/8 30
22-44333945-C-G c.979+793C>G - IntronicSNV - 6/8 1
22-44333968-T-C c.979+816T>C - IntronicSNV - 6/8 1
22-44334476-T-C c.979+1324T>C - IntronicSNV - 6/8 1
22-44334476-T-G c.979+1324T>G - IntronicSNV - 6/8 1
22-44334486-T-C c.979+1334T>C - IntronicSNV - 6/8 1
22-44334486-T-G c.979+1334T>G - IntronicSNV - 6/8 1
22-44334529-T-C c.980-1344T>C - IntronicSNV - 6/8 1
22-44334842-T-C c.980-1031T>C - IntronicSNV - 6/8 2
22-44335331-T-C c.980-542T>C - IntronicSNV - 6/8 1
22-44335406-C-A c.980-467C>A - IntronicSNV - 6/8 1
22-44335416-C-T c.980-457C>T - IntronicSNV - 6/8 1
22-44335453-G-T c.980-420G>T - IntronicSNV - 6/8 1
22-44335744-T-C c.980-129T>C - IntronicSNV - 6/8 3
22-44335873-C-A c.980C>A p.A327E Missense 7/9 - 1
22-44335884-G-A c.991G>A p.E331K Missense 7/9 - 1
22-44335884-G-C c.991G>C p.E331Q Missense 7/9 - 1
22-44335885-A-G c.992A>G p.E331G Missense 7/9 - 7
22-44335887-A-G c.994A>G p.M332V Missense 7/9 - 1
22-44335888-T-C c.995T>C p.M332T Missense 7/9 - 1
22-44335894-A-C c.1001A>C p.D334A Missense 7/9 - 1
22-44335894-A-G c.1001A>G p.D334G Missense 7/9 - 1
22-44335895-C-A c.1002C>A p.D334E Missense 7/9 - 1
22-44335895-C-G c.1002C>G p.D334E Missense 7/9 - 1
22-44335896-A-G c.1003A>G p.K335E Missense 7/9 - 1
22-44335899-G-A c.1006G>A p.G336S Missense 7/9 - 1
22-44335908-A-C c.1015A>C p.M339L Missense 7/9 - 1
22-44335908-A-T c.1015A>T p.M339L Missense 7/9 - 1
22-44335929-CTA-TTT c.1036_1038delinsTTT p.L346F Missense 7/9 - 1
22-44335929-C-T c.1036C>T p.L346= Synonymous 7/9 - 3
22-44335931-A-C c.1038A>C p.L346= Synonymous 7/9 - 2
22-44335931-A-G c.1038A>G p.L346= Synonymous 7/9 - 2
22-44335931-A-T c.1038A>T p.L346= Synonymous 7/9 - 2
22-44335934-C-T c.1041C>T p.P347= Synonymous 7/9 - 1
22-44335936-T-G c.1043T>G p.I348S Missense 7/9 - 2
22-44335941-A-G c.1048A>G p.I350V Missense 7/9 - 1
22-44335948-C-G c.1055C>G p.S352C Missense 7/9 - 1
22-44335951-A-G c.1058A>G p.Y353C Missense 7/9 - 3
22-44335956-A-G c.1063A>G p.M355V Missense 7/9 - 1
22-44335962-C-T c.1069C>T p.P357S Missense 7/9 - 1
22-44335963-C-A c.1070C>A p.P357H Missense 7/9 - 1
22-44335965-TG-GC c.1072_1073delinsGC p.C358A Missense 7/9 - 1
22-44335970-C-A c.1077C>A p.T359= Synonymous 7/9 - 1
22-44335971-C-T c.1078C>T p.L360= Synonymous 7/9 - 2
22-44335973-G-A c.1080G>A p.L360= Synonymous 7/9 - 2
22-44335973-G-C c.1080G>C p.L360= Synonymous 7/9 - 2
22-44335973-G-T c.1080G>T p.L360= Synonymous 7/9 - 2
22-44335974-C-T c.1081C>T p.P361S Missense 7/9 - 1
22-44335975-C-T c.1082C>T p.P361L Missense 7/9 - 1
22-44335977-GTG-ATC c.1084_1086delinsATC p.V362I Missense 7/9 - 1
22-44335980-G-T c.1087G>T p.E363* Nonsense 7/9 - 1
22-44335984-C-T c.1091C>T p.S364F Missense 7/9 - 1
22-44335986-G-C c.1093G>C p.A365P Missense 7/9 - 1
22-44335994-G-A c.1101G>A p.A367= Synonymous 7/9 - 1
22-44335994-G-C c.1101G>C p.A367= Synonymous 7/9 - 1
22-44335994-G-T c.1101G>T p.A367= Synonymous 7/9 - 1
22-44335998-G-A c.1105G>A p.V369I Missense 7/9 - 2
22-44336001-C-T c.1108C>T p.Q370* Nonsense 7/9 - 1
22-44336098-T-C c.1112+93T>C - IntronicSNV - 7/8 11
22-44336310-A-G c.1112+305A>G - IntronicSNV - 7/8 2
22-44336496-T-C c.1112+491T>C - IntronicSNV - 7/8 1
22-44336957-G-A c.1112+952G>A - IntronicSNV - 7/8 1
22-44337533-G-A c.1112+1528G>A - IntronicSNV - 7/8 3
22-44338134-T-C c.1112+2129T>C - IntronicSNV - 7/8 7
22-44338134-T-G c.1112+2129T>G - IntronicSNV - 7/8 7
22-44339526-C-G c.1113-1045C>G - IntronicSNV - 7/8 1
22-44339526-C-T c.1113-1045C>T - IntronicSNV - 7/8 1
22-44340086-C-G c.1113-485C>G - IntronicSNV - 7/8 1
22-44340086-C-T c.1113-485C>T - IntronicSNV - 7/8 1
22-44340575-G-T c.1117G>T p.V373L Missense 8/9 - 1
22-44340578-A-G c.1120A>G p.T374A Missense 8/9 - 1
22-44340586-T-A c.1128T>A p.L376= Synonymous 8/9 - 1
22-44340586-T-C c.1128T>C p.L376= Synonymous 8/9 - 1
22-44340586-T-G c.1128T>G p.L376= Synonymous 8/9 - 1
22-44340589-A-C c.1131A>C p.P377= Synonymous 8/9 - 2
22-44340589-A-G c.1131A>G p.P377= Synonymous 8/9 - 1
22-44340589-A-T c.1131A>T p.P377= Synonymous 8/9 - 1
22-44340590-G-A c.1132G>A p.D378N Missense 8/9 - 1
22-44340593-A-G c.1135A>G p.M379V Missense 8/9 - 1
22-44340599-G-A c.1141G>A p.D381N Missense 8/9 - 1
22-44340602-G-A c.1144G>A p.D382N Missense 8/9 - 4
22-44340602-G-T c.1144G>T p.D382Y Missense 8/9 - 2
22-44340608-C-T c.1150C>T p.L384= Synonymous 8/9 - 1
22-44340610-G-A c.1152G>A p.L384= Synonymous 8/9 - 1
22-44340610-G-C c.1152G>C p.L384= Synonymous 8/9 - 1
22-44340610-G-T c.1152G>T p.L384= Synonymous 8/9 - 1
22-44340613-G-C c.1155G>C p.W385C Missense 8/9 - 1
22-44340613-G-T c.1155G>T p.W385C Missense 8/9 - 1
22-44340616-G-A c.1158G>A p.L386= Synonymous 8/9 - 1
22-44340617-C-T c.1159C>T p.Q387* Nonsense 8/9 - 1
22-44340618-A-G c.1160A>G p.Q387R Missense 8/9 - 2
22-44340621-GG-AT c.1163_1164delinsAT p.W388Y Missense 8/9 - 2
22-44340623-G-A c.1165G>A p.V389M Missense 8/9 - 2
22-44340626-A-G c.1168A>G p.T390A Missense 8/9 - 1
22-44340627-C-T c.1169C>T p.T390I Missense 8/9 - 1
22-44340631-A-G c.1173A>G p.S391= Synonymous 8/9 - 1
22-44340631-CACAGG-C c.1173_1177del p.Q392Vfs*29 Frameshift 8/9 - 1
22-44340638-GTT-G c.1180_1181del p.F394Hfs*28 Frameshift 8/9 - 1
22-44340640-C-T c.1182C>T p.F394= Synonymous 8/9 - 2
22-44340640-C-CA c.1183dup p.T395Nfs*28 Frameshift 8/9 - 3
22-44340642-C-G c.1184C>G p.T395S Missense 8/9 - 1
22-44340642-C-T c.1184C>T p.T395I Missense 8/9 - 1
22-44340644-C-A c.1186C>A p.R396= Synonymous 8/9 - 1
22-44340646-A-C c.1188A>C p.R396= Synonymous 8/9 - 1
22-44340646-A-G c.1188A>G p.R396= Synonymous 8/9 - 1
22-44340646-A-T c.1188A>T p.R396= Synonymous 8/9 - 1
22-44340645-GA-AT c.1187_1188delinsAT p.R396H Missense 8/9 - 1
22-44340645-G-T c.1187G>T p.R396L Missense 8/9 - 1
22-44340647-G-A c.1189G>A p.V397M Missense 8/9 - 1
22-44340649-G-T c.1191G>T p.V397= Synonymous 8/9 - 1
22-44340650-C-T c.1192C>T p.L398= Synonymous 8/9 - 3
22-44340652-G-A c.1194G>A p.L398= Synonymous 8/9 - 2
22-44340652-G-C c.1194G>C p.L398= Synonymous 8/9 - 2
22-44340652-G-T c.1194G>T p.L398= Synonymous 8/9 - 2
22-44340667-C-T c.1209C>T p.P403= Synonymous 8/9 - 1
22-44340668-G-A c.1210G>A p.A404T Missense 8/9 - 1
22-44340668-G-T c.1210G>T p.A404S Missense 8/9 - 1
22-44340904-C-G c.1217+229C>G - IntronicSNV - 8/8 10
22-44340904-C-T c.1217+229C>T - IntronicSNV - 8/8 10
22-44340922-T-G c.1217+247T>G - IntronicSNV - 8/8 1
22-44341193-T-C c.1217+518T>C - IntronicSNV - 8/8 1
22-44341298-G-A c.1217+623G>A - IntronicSNV - 8/8 1
22-44341398-C-A c.1218-636C>A - IntronicSNV - 8/8 1
22-44341398-C-T c.1218-636C>T - IntronicSNV - 8/8 1
22-44341606-T-C c.1218-428T>C - IntronicSNV - 8/8 1
22-44341666-A-G c.1218-368A>G - IntronicSNV - 8/8 1
22-44341672-T-C c.1218-362T>C - IntronicSNV - 8/8 1
22-44341986-T-C c.1218-48T>C - IntronicSNV - 8/8 10
22-44341986-T-G c.1218-48T>G - IntronicSNV - 8/8 10
22-44342036-C-T c.1220C>T p.S407F Missense 9/9 - 3
22-44342038-C-A c.1222C>A p.Q408K Missense 9/9 - 1
22-44342044-C-T c.1228C>T p.P410S Missense 9/9 - 1
22-44342049-G-C c.1233G>C p.V411= Synonymous 9/9 - 1
22-44342052-C-T c.1236C>T p.S412= Synonymous 9/9 - 1
22-44342055-C-T c.1239C>T p.S413= Synonymous 9/9 - 1
22-44342062-G-A c.1246G>A p.A416T Missense 9/9 - 2
22-44342069-C-A c.1253C>A p.P418Q Missense 9/9 - 1
22-44342069-C-G c.1253C>G p.P418R Missense 9/9 - 1
22-44342070-A-G c.1254A>G p.P418= Synonymous 9/9 - 1
22-44342078-C-T c.1262C>T p.P421L Missense 9/9 - 1
22-44342080-G-C c.1264G>C p.E422Q Missense 9/9 - 1
22-44342086-G-A c.1270G>A p.D424N Missense 9/9 - 1
22-44342092-C-T c.1276C>T p.P426S Missense 9/9 - 1
22-44342093-C-T c.1277C>T p.P426L Missense 9/9 - 1
22-44342094-C-A c.1278C>A p.P426= Synonymous 9/9 - 1
22-44342101-A-ACAGCC c.1286_1287insAGCCC p.P430Afs*27 Frameshift 9/9 - 1
22-44342102-C-CA c.1286_1287insA p.P430Sfs*32 Frameshift 9/9 - 1
22-44342104-C-T c.1288C>T p.P430S Missense 9/9 - 6
22-44342107-T-TCGGGGGA c.1291_1292insCGGGGGA p.C431Sfs*33 Frameshift 9/9 - 1
22-44342107-T-TTGGGGGA c.1291_1292insTGGGGGA p.C431Lfs*33 Frameshift 9/9 - 1
22-44342110-CTCCCCCA-C c.1294_1300del p.S432Rfs*21 Frameshift 9/9 - 1
22-44342110-TC-CG c.1294_1295delinsCG p.S432R Missense 9/9 - 1
22-44342111-C-T c.1295C>T p.S432F Missense 9/9 - 2
22-44342112-C-A c.1296C>A p.S432= Synonymous 9/9 - 3
22-44342112-C-G c.1296C>G p.S432= Synonymous 9/9 - 1
22-44342112-C-T c.1296C>T p.S432= Synonymous 9/9 - 4
22-44342116-A-G c.1300A>G p.K434E Missense 9/9 - 84
22-44342118-G-A c.1302G>A p.K434= Synonymous 9/9 - 2
22-44342119-G-A c.1303G>A p.G435S Missense 9/9 - 1
22-44342119-G-T c.1303G>T p.G435C Missense 9/9 - 1
22-44342121-GC-G c.1305del p.C436Vfs*19 Frameshift 9/9 - 1
22-44342122-T-A c.1306T>A p.C436S Missense 9/9 - 1
22-44342131-G-A c.1315G>A p.E439K Missense 9/9 - 1
22-44342138-A-G c.1322A>G p.K441R Missense 9/9 - 1
22-44342143-G-A c.1327G>A p.E443K Missense 9/9 - 1
22-44342144-A-T c.1328A>T p.E443V Missense 9/9 - 1
22-44342146-G-A c.1330G>A p.A444T Missense 9/9 - 1
22-44342147-C-T c.1331C>T p.A444V Missense 9/9 - 1
22-44342150-C-T c.1334C>T p.T445I Missense 9/9 - 1
22-44342153-C-T c.1337C>T p.P446L Missense 9/9 - 98
22-44342154-G-A c.1338G>A p.P446= Synonymous 9/9 - 3
22-44342154-G-C c.1338G>C p.P446= Synonymous 9/9 - 1
22-44342154-G-T c.1338G>T p.P446= Synonymous 9/9 - 1
22-44342155-C-T c.1339C>T p.R447W Missense 9/9 - 1
22-44342156-G-A c.1340G>A p.R447Q Missense 9/9 - 2
22-44342156-G-C c.1340G>C p.R447P Missense 9/9 - 1
22-44342166-C-G c.1350C>G p.L450= Synonymous 9/9 - 1
22-44342167-AG-A c.1353del p.R451Sfs*4 Frameshift 9/9 - 1
22-44342174-G-A c.1358G>A p.S453N Missense 9/9 - 2
22-44342174-G-T c.1358G>T p.S453I Missense 9/9 - 52
22-44342173-A-C c.1357A>C p.S453R Missense 9/9 - 1
22-44342175-C-A c.1359C>A p.S453R Missense 9/9 - 1
22-44342175-C-G c.1359C>G p.S453R Missense 9/9 - 3
22-44342175-C-T c.1359C>T p.S453= Synonymous 9/9 - 2
22-44342180-A-G c.1364A>G p.N455S Missense 9/9 - 4
22-44342182-T-A c.1366T>A p.F456I Missense 9/9 - 1
22-44342183-T-A c.1367T>A p.F456Y Missense 9/9 - 4
22-44342180-ACTT-A c.1371_1373del p.F457del InFrameDeletion 9/9 - 1
22-44342187-C-A c.1371C>A p.F457L Missense 9/9 - 1
22-44342187-C-T c.1371C>T p.F457= Synonymous 9/9 - 1
22-44342192-G-A c.1376G>A p.G459D Missense 9/9 - 1
22-44342198-A-G c.1382A>G p.K461R Missense 9/9 - 4
22-44342200-G-A c.1384G>A p.V462I Missense 9/9 - 1
22-44342203-C-T c.1387C>T p.P463S Missense 9/9 - 1
22-44342205-T-A c.1389T>A p.P463= Synonymous 9/9 - 1
22-44342205-T-C c.1389T>C p.P463= Synonymous 9/9 - 1
22-44342205-T-G c.1389T>G p.P463= Synonymous 9/9 - 1
22-44342208-T-A c.1392T>A p.A464= Synonymous 9/9 - 1
22-44342208-T-C c.1392T>C p.A464= Synonymous 9/9 - 1
22-44342208-T-G c.1392T>G p.A464= Synonymous 9/9 - 1
22-44342211-T-A c.1395T>A p.G465= Synonymous 9/9 - 1
22-44342211-T-C c.1395T>C p.G465= Synonymous 9/9 - 2
22-44342211-T-G c.1395T>G p.G465= Synonymous 9/9 - 1
22-44342213-C-T c.1397C>T p.A466V Missense 9/9 - 1
22-44342214-T-TG c.1399dup p.E467Gfs*24 Frameshift 9/9 - 1
22-44342215-G-C c.1399G>C p.E467Q Missense 9/9 - 3
22-44342218-G-A c.1402G>A p.G468R Missense 9/9 - 2
22-44342225-C-T c.1409C>T p.S470F Missense 9/9 - 1
22-44342233-C-T c.1417C>T p.P473S Missense 9/9 - 1
22-44342235-C-G c.1419C>G p.P473= Synonymous 9/9 - 1
22-44342235-C-T c.1419C>T p.P473= Synonymous 9/9 - 1
22-44342236-AGT-TGA c.1420_1422delinsTGA p.S474* Nonsense 9/9 - 1
22-44342237-G-A c.1421G>A p.S474N Missense 9/9 - 1
22-44342250-G-A c.1434G>A p.E478= Synonymous 9/9 - 2
22-44342253-G-A c.1437G>A p.K479= Synonymous 9/9 - 3
22-44342253-G-T c.1437G>T p.K479N Missense 9/9 - 1
22-44342257-C-A c.1441C>A p.L481M Missense 9/9 - 2
22-44342313-C-G c.*51C>G - 3-UTRSNV 9/9 - 2
22-44342313-C-T c.*51C>T - 3-UTRSNV 9/9 - 2
22-44342325-C-T c.*63C>T - 3-UTRSNV 9/9 - 19
22-44342367-G-A c.*105G>A - 3-UTRSNV 9/9 - 1
22-44342367-G-T c.*105G>T - 3-UTRSNV 9/9 - 1
22-44342394-T-A c.*132T>A - 3-UTRSNV 9/9 - 1
22-44342394-T-C c.*132T>C - 3-UTRSNV 9/9 - 1
22-44342655-G-C c.*393G>C - 3-UTRSNV 9/9 - 1
22-44342691-T-C c.*429T>C - 3-UTRSNV 9/9 - 2
22-44342969-T-C c.*707T>C - 3-UTRSNV 9/9 - 3
22-44342969-T-G c.*707T>G - 3-UTRSNV 9/9 - 3
22-44343009-T-A c.*747T>A - 3-UTRSNV 9/9 - 1
22-44343151-A-G c.*889A>G - 3-UTRSNV 9/9 - 2
22-44343352-A-G c.*1090A>G - 3-UTRSNV 9/9 - 1