CD36

CD36 CD36 molecule

Annotation transcript: NM_001001548.3

1448 unique variant annotations were identified in 612 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
7-80276057-A-G c.1A>G p.M1? Missense 3/15 - 2
7-80276058-T-C c.2T>C p.M1? Missense 3/15 - 1
7-80276059-G-A c.3G>A p.M1? Missense 3/15 - 2
7-80276061-G-A c.5G>A p.G2D Missense 3/15 - 1
7-80276062-C-A c.6C>A p.G2= Synonymous 3/15 - 3
7-80276062-C-G c.6C>G p.G2= Synonymous 3/15 - 3
7-80276062-C-T c.6C>T p.G2= Synonymous 3/15 - 3
7-80276065-T-C c.9T>C p.C3= Synonymous 3/15 - 2
7-80276069-C-T c.13C>T p.R5W Missense 3/15 - 1
7-80276070-G-T c.14G>T p.R5L Missense 3/15 - 1
7-80276069-CG-C c.15del p.N6Tfs*21 Frameshift 3/15 - 1
7-80276074-C-T c.18C>T p.N6= Synonymous 3/15 - 1
7-80276075-T-G c.19T>G p.C7G Missense 3/15 - 1
7-80276079-G-A c.23G>A p.G8E Missense 3/15 - 1
7-80276079-G-T c.23G>T p.G8V Missense 3/15 - 1
7-80276081-C-G c.25C>G p.L9V Missense 3/15 - 1
7-80276084-A-G c.28A>G p.I10V Missense 3/15 - 1
7-80276087-G-A c.31G>A p.A11T Missense 3/15 - 6
7-80276087-G-C c.31G>C p.A11P Missense 3/15 - 1
7-80276087-GC-AA c.31_32delinsAA p.A11N Missense 3/15 - 1
7-80276087-GC-TG c.31_32delinsTG p.A11C Missense 3/15 - 1
7-80276087-G-T c.31G>T p.A11S Missense 3/15 - 2
7-80276088-C-A c.32C>A p.A11D Missense 3/15 - 1
7-80276088-C-T c.32C>T p.A11V Missense 3/15 - 1
7-80276088-CT-AG c.32_33inv p.A11E Missense 3/15 - 2
7-80276089-T-A c.33T>A p.A11= Synonymous 3/15 - 2
7-80276089-T-C c.33T>C p.A11= Synonymous 3/15 - 2
7-80276089-T-G c.33T>G p.A11= Synonymous 3/15 - 2
7-80276090-G-A c.34G>A p.G12R Missense 3/15 - 3
7-80276090-G-C c.34G>C p.G12R Missense 3/15 - 2
7-80276090-GGG-ATC c.34_36delinsATC p.G12I Missense 3/15 - 1
7-80276090-GGG-TGT c.34_36delinsTGT p.G12C Missense 3/15 - 2
7-80276090-G-T c.34G>T p.G12W Missense 3/15 - 1
7-80276091-G-A c.35G>A p.G12E Missense 3/15 - 2
7-80276091-GG-AC c.35_36delinsAC p.G12D Missense 3/15 - 25
7-80276091-G-T c.35G>T p.G12V Missense 3/15 - 5
7-80276093-G-A c.37G>A p.A13T Missense 3/15 - 1
7-80276093-G-C c.37G>C p.A13P Missense 3/15 - 1
7-80276093-G-T c.37G>T p.A13S Missense 3/15 - 1
7-80276094-C-T c.38C>T p.A13V Missense 3/15 - 1
7-80276095-T-A c.39T>A p.A13= Synonymous 3/15 - 1
7-80276095-T-C c.39T>C p.A13= Synonymous 3/15 - 1
7-80276095-T-G c.39T>G p.A13= Synonymous 3/15 - 1
7-80276096-G-A c.40G>A p.V14I Missense 3/15 - 2
7-80276096-GTC-ATG c.40_42delinsATG p.V14M Missense 3/15 - 1
7-80276097-T-C c.41T>C p.V14A Missense 3/15 - 1
7-80276097-T-G c.41T>G p.V14G Missense 3/15 - 1
7-80276099-A-C c.43A>C p.I15L Missense 3/15 - 2
7-80276100-T-C c.44T>C p.I15T Missense 3/15 - 1
7-80276101-T-A c.45T>A p.I15= Synonymous 3/15 - 1
7-80276101-T-G c.45T>G p.I15M Missense 3/15 - 1
7-80276102-G-C c.46G>C p.G16R Missense 3/15 - 2
7-80276102-GG-AT c.46_47delinsAT p.G16I Missense 3/15 - 1
7-80276103-G-A c.47G>A p.G16D Missense 3/15 - 2
7-80276103-G-C c.47G>C p.G16A Missense 3/15 - 1
7-80276104-T-A c.48T>A p.G16= Synonymous 3/15 - 1
7-80276104-T-C c.48T>C p.G16= Synonymous 3/15 - 1
7-80276104-T-G c.48T>G p.G16= Synonymous 3/15 - 1
7-80276105-G-A c.49G>A p.A17T Missense 3/15 - 2
7-80276105-G-C c.49G>C p.A17P Missense 3/15 - 1
7-80276105-GCT-AAG c.49_51delinsAAG p.A17K Missense 3/15 - 1
7-80276105-GCT-CAA c.49_51delinsCAA p.A17Q Missense 3/15 - 2
7-80276105-G-T c.49G>T p.A17S Missense 3/15 - 4
7-80276106-C-A c.50C>A p.A17D Missense 3/15 - 1
7-80276107-T-A c.51T>A p.A17= Synonymous 3/15 - 2
7-80276107-T-C c.51T>C p.A17= Synonymous 3/15 - 2
7-80276107-T-G c.51T>G p.A17= Synonymous 3/15 - 2
7-80276111-CT-GA c.55_56delinsGA p.L19E Missense 3/15 - 1
7-80276111-CTG-ATC c.55_57delinsATC p.L19I Missense 3/15 - 1
7-80276112-T-C c.56T>C p.L19P Missense 3/15 - 1
7-80276113-G-C c.57G>C p.L19= Synonymous 3/15 - 1
7-80276114-G-A c.58G>A p.A20T Missense 3/15 - 2
7-80276114-GC-AT c.58_59delinsAT p.A20I Missense 3/15 - 1
7-80276114-GC-TG c.58_59delinsTG p.A20C Missense 3/15 - 2
7-80276114-G-T c.58G>T p.A20S Missense 3/15 - 1
7-80276115-C-A c.59C>A p.A20D Missense 3/15 - 3
7-80276115-C-T c.59C>T p.A20V Missense 3/15 - 2
7-80276115-CT-AG c.59_60inv p.A20E Missense 3/15 - 1
7-80276116-T-A c.60T>A p.A20= Synonymous 3/15 - 2
7-80276116-T-C c.60T>C p.A20= Synonymous 3/15 - 2
7-80276116-T-G c.60T>G p.A20= Synonymous 3/15 - 2
7-80276117-G-A c.61G>A p.V21M Missense 3/15 - 1
7-80276117-TG-T c.61del p.V21Cfs*6 Frameshift 3/15 - 1
7-80276123-GGA-AGC c.67_69delinsAGC p.G23S Missense 3/15 - 1
7-80276123-GG-AT c.67_68delinsAT p.G23I Missense 3/15 - 1
7-80276123-G-T c.67G>T p.G23* Nonsense 3/15 - 1
7-80276124-G-A c.68G>A p.G23E Missense 3/15 - 1
7-80276124-GA-AC c.68_69delinsAC p.G23D Missense 3/15 - 1
7-80276124-G-T c.68G>T p.G23V Missense 3/15 - 3
7-80276126-G-A c.70G>A p.G24S Missense 3/15 - 1
7-80276126-GG-CC c.70_71inv p.G24P Missense 3/15 - 1
7-80276126-G-T c.70G>T p.G24C Missense 3/15 - 1
7-80276127-G-A c.71G>A p.G24D Missense 3/15 - 2
7-80276128-T-C c.72T>C p.G24= Synonymous 3/15 - 1
7-80276130-TT-AG c.74_75delinsAG p.I25K Missense 3/15 - 1
7-80276126-G-GGTATTTGGAT c.75_76insTGGATGTATT p.L26Wfs*17 Frameshift 3/15 - 1
7-80276132-C-G c.76C>G p.L26V Missense 3/15 - 1
7-80276132-C-T c.76C>T p.L26= Synonymous 3/15 - 2
7-80276134-A-C c.78A>C p.L26= Synonymous 3/15 - 1
7-80276134-A-G c.78A>G p.L26= Synonymous 3/15 - 1
7-80276134-A-T c.78A>T p.L26= Synonymous 3/15 - 1
7-80276138-C-A c.82C>A p.P28T Missense 3/15 - 1
7-80276139-C-A c.83C>A p.P28Q Missense 3/15 - 1
7-80276139-C-T c.83C>T p.P28L Missense 3/15 - 3
7-80276141-G-A c.85G>A p.V29I Missense 3/15 - 2
7-80276141-G-C c.85G>C p.V29L Missense 3/15 - 2
7-80276141-G-T c.85G>T p.V29F Missense 3/15 - 2
7-80276141-GTT-ATG c.85_87delinsATG p.V29M Missense 3/15 - 2
7-80276141-GT-G c.87del p.G30Efs*47 Frameshift 3/15 - 1
7-80276143-T-C c.87T>C p.V29= Synonymous 3/15 - 1
7-80276144-G-A c.88G>A p.G30R Missense 3/15 - 1
7-80276144-G-C c.88G>C p.G30R Missense 3/15 - 1
7-80276144-GGA-AGC c.88_90delinsAGC p.G30S Missense 3/15 - 1
7-80276145-G-T c.89G>T p.G30V Missense 3/15 - 1
7-80276147-G-A c.91G>A p.D31N Missense 3/15 - 1
7-80276150-CT-TC c.94_95delinsTC p.L32S Missense 3/15 - 1
7-80276154-T-C c.98T>C p.L33P Missense 3/15 - 3
7-80276156-A-C c.100A>C p.I34L Missense 3/15 - 1
7-80276157-TC-GG c.101_102delinsGG p.I34R Missense 3/15 - 1
7-80276158-TCCAG-T c.102_105del p.Q35Rfs*41 Frameshift 3/15 - 1
7-80276160-A-T c.104A>T p.Q35L Missense 3/15 - 1
7-80276161-G-A c.105G>A p.Q35= Synonymous 3/15 - 3
7-80276161-GA-G c.107del p.K36Rfs*41 Frameshift 3/15 - 2
7-80276163-A-G c.107A>G p.K36R Missense 3/15 - 1
7-80276168-A-G c.112A>G p.I38V Missense 3/15 - 1
7-80276166-CAATT-C c.113_116del p.I38Kfs*38 Frameshift 3/15 - 1
7-80276169-T-C c.113T>C p.I38T Missense 3/15 - 2
7-80276169-T-G c.113T>G p.I38S Missense 3/15 - 1
7-80276170-T-G c.114T>G p.I38M Missense 3/15 - 1
7-80276171-AA-GG c.115_116delinsGG p.K39G Missense 3/15 - 1
7-80276172-A-C c.116A>C p.K39T Missense 3/15 - 1
7-80276174-AA-GG c.118_119delinsGG p.K40G Missense 3/15 - 2
7-80276170-TA-T c.119del p.K40Sfs*37 Frameshift 3/15 - 1
7-80276175-A-G c.119A>G p.K40R Missense 3/15 - 1
7-80276177-G-A c.120+1G>A - IntronicSNV - 3/14 1
7-80276177-G-T c.120+1G>T - IntronicSNV - 3/14 1
7-80276331-C-T c.120+155C>T - IntronicSNV - 3/14 1
7-80277701-CT-C c.120+1533del - IntronicDeletion - 3/14 1
7-80277851-T-C c.120+1675T>C - IntronicSNV - 3/14 1
7-80285857-A-T c.122A>T p.Q41L Missense 4/15 - 6
7-80285858-A-C c.123A>C p.Q41H Missense 4/15 - 2
7-80285858-A-T c.123A>T p.Q41H Missense 4/15 - 2
7-80285859-G-A c.124G>A p.V42I Missense 4/15 - 1
7-80285859-G-C c.124G>C p.V42L Missense 4/15 - 2
7-80285862-G-A c.127G>A p.V43I Missense 4/15 - 1
7-80285862-G-T c.127G>T p.V43F Missense 4/15 - 2
7-80285862-GTC-ATG c.127_129delinsATG p.V43M Missense 4/15 - 1
7-80285863-TC-AG c.128_129delinsAG p.V43E Missense 4/15 - 1
7-80285865-C-T c.130C>T p.L44F Missense 4/15 - 1
7-80285868-G-A c.133G>A p.E45K Missense 4/15 - 2
7-80285868-G-C c.133G>C p.E45Q Missense 4/15 - 2
7-80285869-A-T c.134A>T p.E45V Missense 4/15 - 2
7-80285868-G-GA c.135dup p.E46Rfs*7 Frameshift 4/15 - 1
7-80285870-A-C c.135A>C p.E45D Missense 4/15 - 1
7-80285870-A-T c.135A>T p.E45D Missense 4/15 - 1
7-80285871-G-A c.136G>A p.E46K Missense 4/15 - 9
7-80285871-GAA-TGT c.136_138delinsTGT p.E46C Missense 4/15 - 1
7-80285871-GA-CT c.136_137delinsCT p.E46L Missense 4/15 - 1
7-80285872-A-G c.137A>G p.E46G Missense 4/15 - 1
7-80285874-G-C c.139G>C p.G47R Missense 4/15 - 1
7-80285875-G-T c.140G>T p.G47V Missense 4/15 - 3
7-80285877-ACA-CAT c.142_144delinsCAT p.T48H Missense 4/15 - 1
7-80285877-A-G c.142A>G p.T48A Missense 4/15 - 1
7-80285878-C-A c.143C>A p.T48K Missense 4/15 - 2
7-80285878-C-T c.143C>T p.T48I Missense 4/15 - 1
7-80285880-A-G c.145A>G p.I49V Missense 4/15 - 1
7-80285883-GCT-TGG c.148_150delinsTGG p.A50W Missense 4/15 - 1
7-80285884-C-T c.149C>T p.A50V Missense 4/15 - 2
7-80285886-T-C c.151T>C p.F51L Missense 4/15 - 1
7-80285889-A-T c.154A>T p.K52* Nonsense 4/15 - 2
7-80285892-A-C c.157A>C p.N53H Missense 4/15 - 1
7-80285888-TA-T c.158del p.N53Ifs*24 Frameshift 4/15 - 2
7-80285893-A-AG c.158_159insG p.N53Kfs*4 Frameshift 4/15 - 1
7-80285893-A-G c.158A>G p.N53S Missense 4/15 - 1
7-80285895-T-G c.160T>G p.W54G Missense 4/15 - 2
7-80285896-G-A c.161G>A p.W54* Nonsense 4/15 - 2
7-80285897-G-A c.162G>A p.W54* Nonsense 4/15 - 1
7-80285897-G-T c.162G>T p.W54C Missense 4/15 - 2
7-80285898-G-A c.163G>A p.V55I Missense 4/15 - 1
7-80285898-G-C c.163G>C p.V55L Missense 4/15 - 1
7-80285899-T-C c.164T>C p.V55A Missense 4/15 - 1
7-80285901-A-T c.166A>T p.K56* Nonsense 4/15 - 1
7-80285902-AA-TG c.167_168delinsTG p.K56M Missense 4/15 - 1
7-80285904-ACA-GAC c.169_171delinsGAC p.T57D Missense 4/15 - 1
7-80285904-ACA-TGT c.169_171inv p.T57C Missense 4/15 - 1
7-80285905-C-T c.170C>T p.T57I Missense 4/15 - 1
7-80285907-G-A c.172G>A p.G58S Missense 4/15 - 1
7-80285907-GG-AC c.172_173delinsAC p.G58T Missense 4/15 - 1
7-80285907-G-T c.172G>T p.G58C Missense 4/15 - 1
7-80285910-ACA-TGT c.175_177inv p.T59C Missense 4/15 - 1
7-80285913-G-A c.178G>A p.E60K Missense 4/15 - 1
7-80285913-G-C c.178G>C p.E60Q Missense 4/15 - 1
7-80285915-A-C c.180A>C p.E60D Missense 4/15 - 1
7-80285915-A-T c.180A>T p.E60D Missense 4/15 - 1
7-80285916-G-A c.181G>A p.V61I Missense 4/15 - 3
7-80285916-G-T c.181G>T p.V61F Missense 4/15 - 1
7-80285919-T-C c.184T>C p.Y62H Missense 4/15 - 3
7-80285919-T-G c.184T>G p.Y62D Missense 4/15 - 2
7-80285921-C-G c.186C>G p.Y62* Nonsense 4/15 - 1
7-80285922-A-G c.187A>G p.R63G Missense 4/15 - 1
7-80285922-A-T c.187A>T p.R63* Nonsense 4/15 - 1
7-80285923-G-A c.188G>A p.R63K Missense 4/15 - 1
7-80285923-G-C c.188G>C p.R63T Missense 4/15 - 1
7-80285924-A-C c.189A>C p.R63S Missense 4/15 - 1
7-80285924-A-T c.189A>T p.R63S Missense 4/15 - 1
7-80285925-C-T c.190C>T p.Q64* Nonsense 4/15 - 1
7-80285926-A-T c.191A>T p.Q64L Missense 4/15 - 1
7-80285927-G-C c.192G>C p.Q64H Missense 4/15 - 1
7-80285931-T-C c.196T>C p.W66R Missense 4/15 - 1
7-80285931-T-G c.196T>G p.W66G Missense 4/15 - 1
7-80285932-G-T c.197G>T p.W66L Missense 4/15 - 1
7-80285933-G-A c.198G>A p.W66* Nonsense 4/15 - 2
7-80285935-T-A c.200T>A p.I67N Missense 4/15 - 3
7-80285936-C-A c.201C>A p.I67= Synonymous 4/15 - 1
7-80285936-C-G c.201C>G p.I67M Missense 4/15 - 1
7-80285936-C-T c.201C>T p.I67= Synonymous 4/15 - 1
7-80285937-T-C c.202T>C p.F68L Missense 4/15 - 1
7-80285940-G-A c.205G>A p.D69N Missense 4/15 - 1
7-80285941-A-C c.206A>C p.D69A Missense 4/15 - 1
7-80285941-A-T c.206A>T p.D69V Missense 4/15 - 1
7-80285943-G-A c.208G>A p.V70M Missense 4/15 - 1
7-80285943-G-T c.208G>T p.V70L Missense 4/15 - 2
7-80285944-T-A c.209T>A p.V70E Missense 4/15 - 1
7-80285945-G-T c.210G>T p.V70= Synonymous 4/15 - 1
7-80285947-A-C c.212A>C p.Q71P Missense 4/15 - 1
7-80285949-A-C c.214A>C p.N72H Missense 4/15 - 1
7-80285946-CA-C c.215del p.N72Ifs*5 Frameshift 4/15 - 1
7-80285950-A-C c.215A>C p.N72T Missense 4/15 - 1
7-80285952-C-A c.217C>A p.P73T Missense 4/15 - 1
7-80285952-C-T c.217C>T p.P73S Missense 4/15 - 2
7-80285953-C-T c.218C>T p.P73L Missense 4/15 - 3
7-80285955-C-T c.220C>T p.Q74* Nonsense 4/15 - 6
7-80285961-GTG-ATC c.226_228delinsATC p.V76I Missense 4/15 - 1
7-80285968-T-C c.233T>C p.M78T Missense 4/15 - 1
7-80285970-AAC-CAA c.235_237delinsCAA p.N79Q Missense 4/15 - 1
7-80285969-G-GA c.236dup p.N79Kfs*8 Frameshift 4/15 - 1
7-80285971-A-G c.236A>G p.N79S Missense 4/15 - 1
7-80285972-C-G c.237C>G p.N79K Missense 4/15 - 1
7-80285972-C-T c.237C>T p.N79= Synonymous 4/15 - 2
7-80285974-G-C c.239G>C p.S80T Missense 4/15 - 2
7-80285979-A-G c.244A>G p.N82D Missense 4/15 - 1
7-80285980-A-G c.245A>G p.N82S Missense 4/15 - 3
7-80285981-C-T c.246C>T p.N82= Synonymous 4/15 - 1
7-80285984-T-G c.249T>G p.I83M Missense 4/15 - 1
7-80285986-A-G c.251A>G p.Q84R Missense 4/15 - 1
7-80285988-GTT-ATG c.253_255delinsATG p.V85M Missense 4/15 - 1
7-80285985-CAAGTT-C c.254_258del p.V85Afs*22 Frameshift 4/15 - 1
7-80285990-T-C c.255T>C p.V85= Synonymous 4/15 - 1
7-80285991-A-G c.256A>G p.K86E Missense 4/15 - 1
7-80285992-A-C c.257A>C p.K86T Missense 4/15 - 1
7-80285993-G-C c.258G>C p.K86N Missense 4/15 - 1
7-80285993-G-T c.258G>T p.K86N Missense 4/15 - 1
7-80285994-C-A c.259C>A p.Q87K Missense 4/15 - 1
7-80285994-C-G c.259C>G p.Q87E Missense 4/15 - 1
7-80285994-C-T c.259C>T p.Q87* Nonsense 4/15 - 2
7-80285995-A-T c.260A>T p.Q87L Missense 4/15 - 1
7-80285998-G-A c.263G>A p.R88K Missense 4/15 - 2
7-80286000-G-A c.265G>A p.G89S Missense 4/15 - 3
7-80286000-G-C c.265G>C p.G89R Missense 4/15 - 1
7-80286000-G-T c.265G>T p.G89C Missense 4/15 - 1
7-80286001-G-A c.266G>A p.G89D Missense 4/15 - 2
7-80286003-C-T c.268C>T p.P90S Missense 4/15 - 18
7-80286004-CT-AA c.269_270delinsAA p.P90Q Missense 4/15 - 1
7-80286006-TAT-GAG c.271_273delinsGAG p.Y91E Missense 4/15 - 1
7-80286006-T-C c.271T>C p.Y91H Missense 4/15 - 1
7-80286008-T-A c.273T>A p.Y91* Nonsense 4/15 - 1
7-80286008-T-C c.273T>C p.Y91= Synonymous 4/15 - 1
7-80286009-AC-GA c.274_275delinsGA p.T92E Missense 4/15 - 1
7-80286009-AC-TG c.274_275delinsTG p.T92W Missense 4/15 - 1
7-80286009-A-G c.274A>G p.T92A Missense 4/15 - 1
7-80286010-C-A c.275C>A p.T92K Missense 4/15 - 1
7-80286010-C-G c.275C>G p.T92R Missense 4/15 - 4
7-80286010-C-T c.275C>T p.T92M Missense 4/15 - 6
7-80286011-G-A c.276G>A p.T92= Synonymous 4/15 - 2
7-80286011-G-C c.276G>C p.T92= Synonymous 4/15 - 2
7-80286011-G-T c.276G>T p.T92= Synonymous 4/15 - 2
7-80286012-T-A c.277T>A p.Y93N Missense 4/15 - 1
7-80286013-A-G c.278A>G p.Y93C Missense 4/15 - 1
7-80286016-G-A c.281G>A p.R94K Missense 4/15 - 1
7-80286016-G-T c.281G>T p.R94I Missense 4/15 - 1
7-80286017-G-A c.281+1G>A - IntronicSNV - 4/14 1
7-80286016-GGTGA-G c.281+7_281+10del - SpliceDonorDeletion - 4/14 1
7-80286081-A-G c.281+65A>G - IntronicSNV - 4/14 1
7-80286380-GA-G c.281+373del - IntronicDeletion - 4/14 1
7-80286399-A-C c.281+383A>C - IntronicSNV - 4/14 1
7-80287646-G-T c.281+1630G>T - IntronicSNV - 4/14 1
7-80287762-AT-A c.281+1754del - IntronicDeletion - 4/14 1
7-80290379-A-G c.282A>G p.R94= Synonymous 5/15 - 1
7-80290380-GTT-ATG c.283_285delinsATG p.V95M Missense 5/15 - 1
7-80290381-T-C c.284T>C p.V95A Missense 5/15 - 2
7-80290383-C-A c.286C>A p.R96S Missense 5/15 - 1
7-80290383-CGT-ATG c.286_288delinsATG p.R96M Missense 5/15 - 1
7-80290383-C-T c.286C>T p.R96C Missense 5/15 - 6
7-80290384-G-A c.287G>A p.R96H Missense 5/15 - 3
7-80290384-G-C c.287G>C p.R96P Missense 5/15 - 4
7-80290388-T-C c.291T>C p.F97= Synonymous 5/15 - 1
7-80290389-C-A c.292C>A p.L98I Missense 5/15 - 1
7-80290389-C-T c.292C>T p.L98= Synonymous 5/15 - 1
7-80290391-A-C c.294A>C p.L98= Synonymous 5/15 - 1
7-80290391-A-G c.294A>G p.L98= Synonymous 5/15 - 1
7-80290391-A-T c.294A>T p.L98= Synonymous 5/15 - 1
7-80290392-G-A c.295G>A p.A99T Missense 5/15 - 2
7-80290393-C-G c.296C>G p.A99G Missense 5/15 - 1
7-80290394-C-A c.297C>A p.A99= Synonymous 5/15 - 1
7-80290395-A-G c.298A>G p.K100E Missense 5/15 - 1
7-80290396-A-G c.299A>G p.K100R Missense 5/15 - 1
7-80290397-G-C c.300G>C p.K100N Missense 5/15 - 1
7-80290397-G-T c.300G>T p.K100N Missense 5/15 - 1
7-80290398-G-T c.301G>T p.E101* Nonsense 5/15 - 1
7-80290399-A-C c.302A>C p.E101A Missense 5/15 - 1
7-80290401-AAT-CAA c.304_306delinsCAA p.N102Q Missense 5/15 - 1
7-80290402-A-G c.305A>G p.N102S Missense 5/15 - 1
7-80290402-ATG-A c.307_308del p.V103Nfs*5 Frameshift 5/15 - 1
7-80290404-G-A c.307G>A p.V103I Missense 5/15 - 2
7-80290404-GTA-TGT c.307_309delinsTGT p.V103C Missense 5/15 - 1
7-80290405-T-C c.308T>C p.V103A Missense 5/15 - 1
7-80290406-A-T c.309A>T p.V103= Synonymous 5/15 - 1
7-80290407-A-T c.310A>T p.T104S Missense 5/15 - 1
7-80290408-C-A c.311C>A p.T104N Missense 5/15 - 1
7-80290408-CC-AG c.311_312delinsAG p.T104K Missense 5/15 - 1
7-80290408-C-G c.311C>G p.T104S Missense 5/15 - 1
7-80290408-C-T c.311C>T p.T104I Missense 5/15 - 2
7-80290410-C-A c.313C>A p.Q105K Missense 5/15 - 2
7-80290410-C-G c.313C>G p.Q105E Missense 5/15 - 1
7-80290410-C-T c.313C>T p.Q105* Nonsense 5/15 - 1
7-80290413-G-A c.316G>A p.D106N Missense 5/15 - 2
7-80290414-A-C c.317A>C p.D106A Missense 5/15 - 1
7-80290414-A-G c.317A>G p.D106G Missense 5/15 - 2
7-80290415-C-T c.318C>T p.D106= Synonymous 5/15 - 2
7-80290416-G-A c.319G>A p.A107T Missense 5/15 - 2
7-80290416-G-T c.319G>T p.A107S Missense 5/15 - 1
7-80290417-C-T c.320C>T p.A107V Missense 5/15 - 2
7-80290419-G-A c.322G>A p.E108K Missense 5/15 - 3
7-80290420-A-C c.323A>C p.E108A Missense 5/15 - 2
7-80290420-A-T c.323A>T p.E108V Missense 5/15 - 2
7-80290422-G-A c.325G>A p.D109N Missense 5/15 - 1
7-80290423-A-C c.326A>C p.D109A Missense 5/15 - 1
7-80290424-C-A c.327C>A p.D109E Missense 5/15 - 1
7-80290425-A-G c.328A>G p.N110D Missense 5/15 - 1
7-80290426-A-C c.329A>C p.N110T Missense 5/15 - 1
7-80290426-A-G c.329A>G p.N110S Missense 5/15 - 1
7-80290425-AAC-A c.332_333del p.T111Sfs*22 Frameshift 5/15 - 9
7-80290429-C-T c.332C>T p.T111I Missense 5/15 - 1
7-80290431-G-T c.334G>T p.V112F Missense 5/15 - 1
7-80290430-A-AGTAGG c.335_336insAGGGT p.S113Gfs*46 Frameshift 5/15 - 1
7-80290434-T-G c.337T>G p.S113A Missense 5/15 - 1
7-80290431-GTC-G c.338_339del p.S113Ffs*20 Frameshift 5/15 - 1
7-80290435-C-A c.338C>A p.S113Y Missense 5/15 - 1
7-80290435-C-T c.338C>T p.S113F Missense 5/15 - 1
7-80290437-T-C c.340T>C p.F114L Missense 5/15 - 1
7-80290437-T-G c.340T>G p.F114V Missense 5/15 - 1
7-80290440-C-A c.343C>A p.L115M Missense 5/15 - 1
7-80290441-T-C c.344T>C p.L115P Missense 5/15 - 1
7-80290443-C-T c.346C>T p.Q116* Nonsense 5/15 - 1
7-80290444-A-C c.347A>C p.Q116P Missense 5/15 - 1
7-80290445-GCC-G c.350_351del p.P117Qfs*16 Frameshift 5/15 - 1
7-80290447-C-T c.350C>T p.P117L Missense 5/15 - 1
7-80290448-C-G c.351C>G p.P117= Synonymous 5/15 - 1
7-80290450-A-AT c.354dup p.G119Wfs*15 Frameshift 5/15 - 1
7-80290451-T-A c.354T>A p.N118K Missense 5/15 - 1
7-80290451-T-G c.354T>G p.N118K Missense 5/15 - 1
7-80290452-G-A c.355G>A p.G119S Missense 5/15 - 1
7-80290453-G-A c.356G>A p.G119D Missense 5/15 - 1
7-80290455-G-A c.358G>A p.A120T Missense 5/15 - 1
7-80290455-G-T c.358G>T p.A120S Missense 5/15 - 2
7-80290455-GC-G c.360del p.I121Sfs*36 Frameshift 5/15 - 1
7-80290459-T-TG c.362_363insG p.I121Mfs*13 Frameshift 5/15 - 1
7-80290463-C-T c.366C>T p.F122= Synonymous 5/15 - 3
7-80290464-G-A c.367G>A p.E123K Missense 5/15 - 5
7-80290466-A-T c.369A>T p.E123D Missense 5/15 - 1
7-80290467-C-T c.370C>T p.P124S Missense 5/15 - 1
7-80290468-C-G c.371C>G p.P124R Missense 5/15 - 1
7-80290468-C-T c.371C>T p.P124L Missense 5/15 - 1
7-80290470-T-G c.373T>G p.S125A Missense 5/15 - 1
7-80290475-A-G c.378A>G p.L126= Synonymous 5/15 - 1
7-80290476-T-A c.379T>A p.S127T Missense 5/15 - 1
7-80290476-T-C c.379T>C p.S127P Missense 5/15 - 1
7-80290476-T-G c.379T>G p.S127A Missense 5/15 - 1
7-80290477-C-G c.380C>G p.S127* Nonsense 5/15 - 4
7-80290477-C-T c.380C>T p.S127L Missense 5/15 - 5
7-80290478-CA-C c.381del p.V128Lfs*29 Frameshift 5/15 - 1
7-80290482-G-A c.385G>A p.G129R Missense 5/15 - 1
7-80290484-A-G c.387A>G p.G129= Synonymous 5/15 - 1
7-80290485-A-G c.388A>G p.T130A Missense 5/15 - 2
7-80290486-C-T c.389C>T p.T130I Missense 5/15 - 1
7-80290488-G-A c.391G>A p.E131K Missense 5/15 - 1
7-80290488-G-C c.391G>C p.E131Q Missense 5/15 - 2
7-80290491-G-A c.394G>A p.A132T Missense 5/15 - 1
7-80290491-G-T c.394G>T p.A132S Missense 5/15 - 2
7-80290494-G-A c.397G>A p.D133N Missense 5/15 - 2
7-80290494-G-C c.397G>C p.D133H Missense 5/15 - 1
7-80290494-G-T c.397G>T p.D133Y Missense 5/15 - 2
7-80290495-A-G c.398A>G p.D133G Missense 5/15 - 5
7-80290495-A-T c.398A>T p.D133V Missense 5/15 - 1
7-80290496-C-A c.399C>A p.D133E Missense 5/15 - 2
7-80290496-C-G c.399C>G p.D133E Missense 5/15 - 1
7-80290497-AAC-CAA c.400_402delinsCAA p.N134Q Missense 5/15 - 1
7-80290496-C-CA c.401dup p.N134Kfs*30 Frameshift 5/15 - 1
7-80290498-A-G c.401A>G p.N134S Missense 5/15 - 1
7-80290500-T-C c.403T>C p.F135L Missense 5/15 - 2
7-80290502-C-A c.405C>A p.F135L Missense 5/15 - 1
7-80290502-C-G c.405C>G p.F135L Missense 5/15 - 1
7-80290501-T-C c.404T>C p.F135S Missense 5/15 - 3
7-80290503-A-C c.406A>C p.T136P Missense 5/15 - 1
7-80290503-A-T c.406A>T p.T136S Missense 5/15 - 2
7-80290504-C-T c.407C>T p.T136I Missense 5/15 - 1
7-80290507-T-C c.410T>C p.V137A Missense 5/15 - 3
7-80290509-C-A c.412C>A p.L138I Missense 5/15 - 1
7-80290509-C-T c.412C>T p.L138F Missense 5/15 - 1
7-80290509-CTC-ATG c.412_414delinsATG p.L138M Missense 5/15 - 1
7-80290511-C-T c.414C>T p.L138= Synonymous 5/15 - 2
7-80290512-A-G c.415A>G p.N139D Missense 5/15 - 1
7-80290513-A-G c.416A>G p.N139S Missense 5/15 - 3
7-80290516-T-A c.419T>A p.L140Q Missense 5/15 - 1
7-80290518-G-A c.421G>A p.A141T Missense 5/15 - 2
7-80290518-G-T c.421G>T p.A141S Missense 5/15 - 1
7-80290521-G-A c.424G>A p.V142M Missense 5/15 - 2
7-80290524-G-A c.427G>A p.A143T Missense 5/15 - 1
7-80290524-G-C c.427G>C p.A143P Missense 5/15 - 1
7-80290524-G-T c.427G>T p.A143S Missense 5/15 - 1
7-80290525-C-T c.428C>T p.A143V Missense 5/15 - 1
7-80290525-GCAGTGAGTAGACAAACAACAAAGTTATCTATTTTAAAATACTCTAGAACTCATGTAATT-G c.428_429+57del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 5/15 5/14 1
7-80290527-G-A c.429+1G>A - IntronicSNV - 5/14 2
7-80290528-T-C c.429+2T>C - IntronicSNV - 5/14 8
7-80290528-T-TG c.429+3dup - IntronicInsertion - 5/14 3
7-80290548-T-G c.429+22T>G - IntronicSNV - 5/14 1
7-80290643-C-T c.429+117C>T - IntronicSNV - 5/14 1
7-80292306-G-C c.430G>C p.A144P Missense 6/15 - 1
7-80292307-C-G c.431C>G p.A144G Missense 6/15 - 1
7-80292309-G-A c.433G>A p.A145T Missense 6/15 - 1
7-80292309-G-T c.433G>T p.A145S Missense 6/15 - 1
7-80292310-C-T c.434C>T p.A145V Missense 6/15 - 2
7-80292312-T-A c.436T>A p.S146T Missense 6/15 - 1
7-80292312-T-C c.436T>C p.S146P Missense 6/15 - 2
7-80292312-TC-CG c.436_437delinsCG p.S146R Missense 6/15 - 1
7-80292313-C-T c.437C>T p.S146F Missense 6/15 - 1
7-80292316-A-C c.440A>C p.H147P Missense 6/15 - 1
7-80292318-TA-T c.442del p.I148Sfs*9 Frameshift 6/15 - 1
7-80292319-T-A c.443T>A p.I148N Missense 6/15 - 1
7-80292319-T-C c.443T>C p.I148T Missense 6/15 - 1
7-80292320-C-G c.444C>G p.I148M Missense 6/15 - 6
7-80292321-T-C c.445T>C p.Y149H Missense 6/15 - 1
7-80292322-A-G c.446A>G p.Y149C Missense 6/15 - 3
7-80292322-A-T c.446A>T p.Y149F Missense 6/15 - 1
7-80292323-T-G c.447T>G p.Y149* Nonsense 6/15 - 1
7-80292324-CA-AC c.448_449delinsAC p.Q150T Missense 6/15 - 1
7-80292324-C-T c.448C>T p.Q150* Nonsense 6/15 - 1
7-80292325-A-G c.449A>G p.Q150R Missense 6/15 - 1
7-80292327-AA-GT c.451_452delinsGT p.N151V Missense 6/15 - 1
7-80292327-A-T c.451A>T p.N151Y Missense 6/15 - 1
7-80292324-CA-C c.452del p.N151Ifs*6 Frameshift 6/15 - 1
7-80292331-A-G c.455A>G p.Q152R Missense 6/15 - 2
7-80292332-A-G c.456A>G p.Q152= Synonymous 6/15 - 1
7-80292333-TT-GC c.457_458delinsGC p.F153A Missense 6/15 - 1
7-80292332-AT-A c.459del p.F153Lfs*4 Frameshift 6/15 - 1
7-80292336-G-T c.460G>T p.V154F Missense 6/15 - 1
7-80292337-T-C c.461T>C p.V154A Missense 6/15 - 1
7-80292338-T-A c.462T>A p.V154= Synonymous 6/15 - 1
7-80292339-C-T c.463C>T p.Q155* Nonsense 6/15 - 2
7-80292340-A-T c.464A>T p.Q155L Missense 6/15 - 1
7-80292339-CA-C c.466del p.M156* Frameshift 6/15 - 1
7-80292342-A-G c.466A>G p.M156V Missense 6/15 - 1
7-80292344-G-A c.468G>A p.M156I Missense 6/15 - 1
7-80292344-G-C c.468G>C p.M156I Missense 6/15 - 1
7-80292344-G-T c.468G>T p.M156I Missense 6/15 - 1
7-80292345-A-G c.469A>G p.I157V Missense 6/15 - 1
7-80292349-T-C c.473T>C p.L158P Missense 6/15 - 1
7-80292351-A-C c.475A>C p.N159H Missense 6/15 - 1
7-80292348-CTCAAT-C c.476_480del p.N159Tfs*3 Frameshift 6/15 - 1
7-80292352-AAT-A c.476_477del p.N159Ifs*4 Frameshift 6/15 - 1
7-80292353-T-G c.477T>G p.N159K Missense 6/15 - 1
7-80292354-T-A c.478T>A p.S160T Missense 6/15 - 1
7-80292355-C-T c.479C>T p.S160L Missense 6/15 - 1
7-80292358-T-G c.482T>G p.L161R Missense 6/15 - 2
7-80292360-A-C c.484A>C p.I162L Missense 6/15 - 1
7-80292361-T-A c.485T>A p.I162N Missense 6/15 - 1
7-80292361-T-G c.485T>G p.I162S Missense 6/15 - 1
7-80292362-T-G c.486T>G p.I162M Missense 6/15 - 1
7-80292363-AAC-CAA c.487_489delinsCAA p.N163Q Missense 6/15 - 1
7-80292366-AA-GC c.490_491delinsGC p.K164A Missense 6/15 - 3
7-80292366-AA-TG c.490_491delinsTG p.K164W Missense 6/15 - 1
7-80292367-A-C c.491A>C p.K164T Missense 6/15 - 2
7-80292367-A-G c.491A>G p.K164R Missense 6/15 - 1
7-80292368-G-C c.492G>C p.K164N Missense 6/15 - 1
7-80292368-G-T c.492G>T p.K164N Missense 6/15 - 1
7-80292369-TCA-AAC c.493_495delinsAAC p.S165N Missense 6/15 - 1
7-80292370-C-A c.494C>A p.S165* Nonsense 6/15 - 1
7-80292370-CA-TT c.494_495delinsTT p.S165F Missense 6/15 - 1
7-80292370-C-G c.494C>G p.S165* Nonsense 6/15 - 1
7-80292370-TC-T c.494del p.S165* Frameshift 6/15 - 1
7-80292370-C-CA c.498dup p.S167Ifs*17 Frameshift 6/15 - 1
7-80292374-A-G c.498A>G p.K166= Synonymous 6/15 - 1
7-80292376-C-G c.500C>G p.S167C Missense 6/15 - 1
7-80292379-CTA-C c.505_506del p.M169Vfs*14 Frameshift 6/15 - 1
7-80292381-AT-GC c.505_506delinsGC p.M169A Missense 6/15 - 1
7-80292383-G-A c.507G>A p.M169I Missense 6/15 - 1
7-80292383-G-C c.507G>C p.M169I Missense 6/15 - 1
7-80292383-G-T c.507G>T p.M169I Missense 6/15 - 1
7-80292385-T-A c.509T>A p.F170Y Missense 6/15 - 1
7-80292385-T-C c.509T>C p.F170S Missense 6/15 - 1
7-80292385-T-G c.509T>G p.F170C Missense 6/15 - 1
7-80292387-C-T c.511C>T p.Q171* Nonsense 6/15 - 1
7-80292387-CA-C c.513del p.V172Sfs*4 Frameshift 6/15 - 1
7-80292387-C-CA c.513dup p.V172Sfs*12 Frameshift 6/15 - 1
7-80292390-G-T c.514G>T p.V172F Missense 6/15 - 2
7-80292391-T-C c.515T>C p.V172A Missense 6/15 - 1
7-80292391-T-G c.515T>G p.V172G Missense 6/15 - 3
7-80292393-A-G c.517A>G p.R173G Missense 6/15 - 2
7-80292393-AGA-TGG c.517_519delinsTGG p.R173W Missense 6/15 - 1
7-80292393-AGA-TGT c.517_519delinsTGT p.R173C Missense 6/15 - 2
7-80292393-AG-CA c.517_518delinsCA p.R173Q Missense 6/15 - 2
7-80292394-G-A c.518G>A p.R173K Missense 6/15 - 1
7-80292396-A-G c.520A>G p.T174A Missense 6/15 - 1
7-80292397-C-T c.521C>T p.T174I Missense 6/15 - 1
7-80292398-T-A c.522T>A p.T174= Synonymous 6/15 - 1
7-80292398-T-C c.522T>C p.T174= Synonymous 6/15 - 2
7-80292398-T-G c.522T>G p.T174= Synonymous 6/15 - 1
7-80292402-A-C c.526A>C p.R176= Synonymous 6/15 - 1
7-80292405-G-A c.529G>A p.E177K Missense 6/15 - 1
7-80292409-T-A c.533T>A p.L178Q Missense 6/15 - 2
7-80292409-T-C c.533T>C p.L178P Missense 6/15 - 1
7-80292408-C-T c.532C>T p.L178= Synonymous 6/15 - 1
7-80292410-G-A c.534G>A p.L178= Synonymous 6/15 - 2
7-80292410-G-C c.534G>C p.L178= Synonymous 6/15 - 1
7-80292410-G-T c.534G>T p.L178= Synonymous 6/15 - 1
7-80292411-GTT-G c.535_536del p.L179Mfs*4 Frameshift 6/15 - 1
7-80292411-TTA-ATG c.535_537delinsATG p.L179M Missense 6/15 - 1
7-80292411-TT-CC c.535_536delinsCC p.L179P Missense 6/15 - 1
7-80292412-T-TTTTC c.536_537insTTTC p.L179Ffs*6 Frameshift 6/15 - 1
7-80292413-A-T c.537A>T p.L179F Missense 6/15 - 1
7-80292414-T-A c.538T>A p.W180R Missense 6/15 - 2
7-80292414-T-C c.538T>C p.W180R Missense 6/15 - 3
7-80292415-G-A c.539G>A p.W180* Nonsense 6/15 - 2
7-80292416-G-A c.540G>A p.W180* Nonsense 6/15 - 1
7-80292416-G-C c.540G>C p.W180C Missense 6/15 - 1
7-80292416-G-T c.540G>T p.W180C Missense 6/15 - 1
7-80292417-G-A c.541G>A p.G181S Missense 6/15 - 1
7-80292418-G-A c.542G>A p.G181D Missense 6/15 - 2
7-80292418-G-C c.542G>C p.G181A Missense 6/15 - 1
7-80292418-G-T c.542G>T p.G181V Missense 6/15 - 1
7-80292419-C-T c.543C>T p.G181= Synonymous 6/15 - 2
7-80292420-T-A c.544T>A p.Y182N Missense 6/15 - 2
7-80292420-T-C c.544T>C p.Y182H Missense 6/15 - 1
7-80292421-A-G c.545A>G p.Y182C Missense 6/15 - 1
7-80292424-G-A c.548G>A p.R183K Missense 6/15 - 3
7-80292426-G-A c.550G>A p.D184N Missense 6/15 - 4
7-80292427-A-T c.551A>T p.D184V Missense 6/15 - 1
7-80292428-T-A c.552T>A p.D184E Missense 6/15 - 1
7-80292429-C-A c.553C>A p.P185T Missense 6/15 - 1
7-80292429-CCA-TGT c.553_555delinsTGT p.P185C Missense 6/15 - 1
7-80292430-C-A c.554C>A p.P185Q Missense 6/15 - 1
7-80292433-T-A c.557T>A p.F186Y Missense 6/15 - 1
7-80292433-T-C c.557T>C p.F186S Missense 6/15 - 1
7-80292432-TTTTTGAGTTTGGTTCCGTACCC-T c.558_579del p.F186Lfs*29 Frameshift 6/15 - 1
7-80292435-T-C c.559T>C p.L187= Synonymous 6/15 - 1
7-80292435-TT-CC c.559_560delinsCC p.L187P Missense 6/15 - 1
7-80292437-G-A c.561G>A p.L187= Synonymous 6/15 - 1
7-80292431-A-AT c.560dup p.L187Ffs*27 Frameshift 6/15 - 2
7-80292431-AT-A c.560del p.L187* Frameshift 6/15 - 1
7-80292436-T-C c.560T>C p.L187S Missense 6/15 - 1
7-80292436-T-G c.560T>G p.L187W Missense 6/15 - 1
7-80292437-G-C c.561G>C p.L187F Missense 6/15 - 1
7-80292439-G-A c.563G>A p.S188N Missense 6/15 - 1
7-80292439-G-C c.563G>C p.S188T Missense 6/15 - 1
7-80292439-G-GAGGGT c.563_564insAGGGT p.S188Rfs*36 Frameshift 6/15 - 1
7-80292444-G-A c.568G>A p.V190I Missense 6/15 - 1
7-80292444-G-C c.568G>C p.V190L Missense 6/15 - 1
7-80292445-T-G c.569T>G p.V190G Missense 6/15 - 1
7-80292448-C-A c.572C>A p.P191Q Missense 6/15 - 1
7-80292448-C-T c.572C>T p.P191L Missense 6/15 - 5
7-80292449-G-A c.573G>A p.P191= Synonymous 6/15 - 9
7-80292449-G-C c.573G>C p.P191= Synonymous 6/15 - 3
7-80292449-G-T c.573G>T p.P191= Synonymous 6/15 - 3
7-80292450-T-C c.574T>C p.Y192H Missense 6/15 - 1
7-80292452-C-A c.576C>A p.Y192* Nonsense 6/15 - 1
7-80292452-C-T c.576C>T p.Y192= Synonymous 6/15 - 2
7-80292454-C-A c.578C>A p.P193H Missense 6/15 - 2
7-80292454-CCT-C c.578_579del p.P193Rfs*20 Frameshift 6/15 - 2
7-80292454-C-G c.578C>G p.P193R Missense 6/15 - 1
7-80292454-C-T c.578C>T p.P193L Missense 6/15 - 3
7-80292456-G-A c.580G>A p.V194I Missense 6/15 - 3
7-80292456-G-T c.580G>T p.V194F Missense 6/15 - 1
7-80292459-AC-TG c.583_584delinsTG p.T195C Missense 6/15 - 1
7-80292459-TA-T c.583del p.T195Lfs*27 Frameshift 6/15 - 1
7-80292460-C-G c.584C>G p.T195S Missense 6/15 - 1
7-80292460-C-T c.584C>T p.T195I Missense 6/15 - 1
7-80292460-CT-TG c.584_585delinsTG p.T195M Missense 6/15 - 2
7-80292461-T-G c.585T>G p.T195= Synonymous 6/15 - 1
7-80292463-C-A c.587C>A p.T196N Missense 6/15 - 1
7-80292463-CC-GG c.587_588inv p.T196R Missense 6/15 - 1
7-80292463-C-G c.587C>G p.T196S Missense 6/15 - 1
7-80292463-C-T c.587C>T p.T196I Missense 6/15 - 1
7-80292462-AC-A c.588del p.T197Qfs*25 Frameshift 6/15 - 1
7-80292465-A-G c.589A>G p.T197A Missense 6/15 - 2
7-80292465-A-T c.589A>T p.T197S Missense 6/15 - 2
7-80292466-C-CG c.590_591insG p.V198Sfs*16 Frameshift 6/15 - 1
7-80292466-C-T c.590C>T p.T197I Missense 6/15 - 2
7-80292467-A-C c.591A>C p.T197= Synonymous 6/15 - 2
7-80292467-A-G c.591A>G p.T197= Synonymous 6/15 - 1
7-80292467-A-T c.591A>T p.T197= Synonymous 6/15 - 2
7-80292468-G-A c.592G>A p.V198I Missense 6/15 - 2
7-80292468-G-C c.592G>C p.V198L Missense 6/15 - 1
7-80292471-G-A c.595G>A p.G199S Missense 6/15 - 1
7-80292470-TG-T c.596del p.G199Vfs*23 Frameshift 6/15 - 1
7-80292472-G-A c.596G>A p.G199D Missense 6/15 - 1
7-80292478-T-C c.602T>C p.F201S Missense 6/15 - 1
7-80292480-T-A c.604T>A p.Y202N Missense 6/15 - 1
7-80292482-ATCCTGTAAGTACCAAATATGAATGGCAATATTATTACATTTTAATTTAATTAATTCAAT-A c.606_609+55del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 6/15 6/14 1
7-80292482-T-G c.606T>G p.Y202* Nonsense 6/15 - 1
7-80292483-C-T c.607C>T p.P203S Missense 6/15 - 3
7-80292484-C-G c.608C>G p.P203R Missense 6/15 - 1
7-80292484-C-T c.608C>T p.P203L Missense 6/15 - 1
7-80292485-CT-C c.609del p.Y204Tfs*18 Frameshift 6/15 - 1
7-80292486-G-A c.609+1G>A - IntronicSNV - 6/14 5
7-80292486-G-C c.609+1G>C - IntronicSNV - 6/14 1
7-80292486-G-T c.609+1G>T - IntronicSNV - 6/14 2
7-80292486-TG-T c.609+1del - IntronicDeletion - 6/14 1
7-80292491-T-C c.609+6T>C - IntronicSNV - 6/14 1
7-80293724-C-A c.612C>A p.Y204* Nonsense 7/15 - 1
7-80293725-AAC-CAA c.613_615delinsCAA p.N205Q Missense 7/15 - 1
7-80293728-AA-GC c.616_617delinsGC p.N206A Missense 7/15 - 1
7-80293727-CAAT-C c.617_619del p.N206del InFrameDeletion 7/15 - 1
7-80293731-A-T c.619A>T p.T207S Missense 7/15 - 1
7-80293732-C-A c.620C>A p.T207N Missense 7/15 - 2
7-80293732-C-G c.620C>G p.T207S Missense 7/15 - 1
7-80293732-C-T c.620C>T p.T207I Missense 7/15 - 1
7-80293732-CT-GG c.620_621delinsGG p.T207R Missense 7/15 - 1
7-80293733-T-G c.621T>G p.T207= Synonymous 7/15 - 1
7-80293737-G-C c.625G>C p.D209H Missense 7/15 - 2
7-80293737-G-T c.625G>T p.D209Y Missense 7/15 - 1
7-80293738-A-G c.626A>G p.D209G Missense 7/15 - 1
7-80293738-A-T c.626A>T p.D209V Missense 7/15 - 1
7-80293739-T-G c.627T>G p.D209E Missense 7/15 - 2
7-80293740-G-A c.628G>A p.G210R Missense 7/15 - 3
7-80293740-GG-AC c.628_629delinsAC p.G210T Missense 7/15 - 1
7-80293740-G-T c.628G>T p.G210* Nonsense 7/15 - 1
7-80293741-G-A c.629G>A p.G210E Missense 7/15 - 4
7-80293741-G-C c.629G>C p.G210A Missense 7/15 - 1
7-80293741-G-T c.629G>T p.G210V Missense 7/15 - 1
7-80293742-GA-G c.630del p.V211Ffs*11 Frameshift 7/15 - 1
7-80293743-G-T c.631G>T p.V211F Missense 7/15 - 1
7-80293744-T-C c.632T>C p.V211A Missense 7/15 - 1
7-80293745-T-G c.633T>G p.V211= Synonymous 7/15 - 1
7-80293747-A-G c.635A>G p.Y212C Missense 7/15 - 2
7-80293745-TTA-T c.636_637del p.Y212* Frameshift 7/15 - 1
7-80293748-T-G c.636T>G p.Y212* Nonsense 7/15 - 1
7-80293749-A-G c.637A>G p.K213E Missense 7/15 - 4
7-80293749-A-T c.637A>T p.K213* Nonsense 7/15 - 1
7-80293750-A-G c.638A>G p.K213R Missense 7/15 - 1
7-80293748-T-TA c.639dup p.V214Sfs*7 Frameshift 7/15 - 1
7-80293752-G-A c.640G>A p.V214I Missense 7/15 - 2
7-80293752-GTT-ATG c.640_642delinsATG p.V214M Missense 7/15 - 1
7-80293753-T-C c.641T>C p.V214A Missense 7/15 - 1
7-80293753-T-G c.641T>G p.V214G Missense 7/15 - 1
7-80293755-T-C c.643T>C p.F215L Missense 7/15 - 1
7-80293757-C-G c.645C>G p.F215L Missense 7/15 - 1
7-80293757-TC-T c.645del p.F215Lfs*7 Frameshift 7/15 - 1
7-80293759-A-G c.647A>G p.N216S Missense 7/15 - 3
7-80293759-AT-GG c.647_648delinsGG p.N216R Missense 7/15 - 1
7-80293760-T-A c.648T>A p.N216K Missense 7/15 - 1
7-80293760-T-G c.648T>G p.N216K Missense 7/15 - 1
7-80293761-G-A c.649G>A p.G217R Missense 7/15 - 4
7-80293761-GG-AA c.649_650delinsAA p.G217K Missense 7/15 - 1
7-80293761-GGA-TGG c.649_651delinsTGG p.G217W Missense 7/15 - 1
7-80293761-G-T c.649G>T p.G217* Nonsense 7/15 - 1
7-80293762-G-A c.650G>A p.G217E Missense 7/15 - 1
7-80293762-GA-AC c.650_651delinsAC p.G217D Missense 7/15 - 1
7-80293762-G-T c.650G>T p.G217V Missense 7/15 - 1
7-80293764-A-G c.652A>G p.K218E Missense 7/15 - 1
7-80293765-A-G c.653A>G p.K218R Missense 7/15 - 2
7-80293766-A-C c.654A>C p.K218N Missense 7/15 - 1
7-80293766-A-G c.654A>G p.K218= Synonymous 7/15 - 1
7-80293766-A-T c.654A>T p.K218N Missense 7/15 - 3
7-80293767-G-C c.655G>C p.D219H Missense 7/15 - 1
7-80293767-G-T c.655G>T p.D219Y Missense 7/15 - 2
7-80293768-A-C c.656A>C p.D219A Missense 7/15 - 1
7-80293769-AT-A c.657del p.D219Efs*3 Frameshift 7/15 - 1
7-80293769-T-C c.657T>C p.D219= Synonymous 7/15 - 1
7-80293770-AAC-CAA c.658_660delinsCAA p.N220Q Missense 7/15 - 1
7-80293769-TA-T c.659del p.N220Tfs*2 Frameshift 7/15 - 1
7-80293767-GATAAC-G c.660_664del p.N220Kfs*2 Frameshift 7/15 - 2
7-80293772-C-A c.660C>A p.N220K Missense 7/15 - 1
7-80293772-C-G c.660C>G p.N220K Missense 7/15 - 1
7-80293774-T-C c.662T>C p.I221T Missense 7/15 - 1
7-80293775-A-C c.663A>C p.I221= Synonymous 7/15 - 1
7-80293775-A-T c.663A>T p.I221= Synonymous 7/15 - 1
7-80293776-A-C c.664A>C p.S222R Missense 7/15 - 1
7-80293776-AG-GC c.664_665delinsGC p.S222A Missense 7/15 - 1
7-80293777-G-C c.665G>C p.S222T Missense 7/15 - 1
7-80293777-G-GT c.666dup p.K223* Nonsense 7/15 - 1
7-80293778-T-C c.666T>C p.S222= Synonymous 7/15 - 1
7-80293774-TAAGTA-T c.667_671del p.K223Cfs*7 Frameshift 7/15 - 1
7-80293780-A-T c.668A>T p.K223I Missense 7/15 - 1
7-80293778-TA-T c.669del p.V224Lfs*3 Frameshift 7/15 - 1
7-80293781-AAGTTG-A c.669_673del p.K223Nfs*7 Frameshift 7/15 - 2
7-80293782-G-T c.670G>T p.V224F Missense 7/15 - 1
7-80293785-G-A c.673G>A p.A225T Missense 7/15 - 2
7-80293786-C-G c.674C>G p.A225G Missense 7/15 - 1
7-80293790-A-G c.678A>G p.I226M Missense 7/15 - 1
7-80293793-C-A c.681C>A p.I227= Synonymous 7/15 - 2
7-80293793-C-T c.681C>T p.I227= Synonymous 7/15 - 2
7-80293794-G-A c.682G>A p.D228N Missense 7/15 - 4
7-80293796-C-T c.684C>T p.D228= Synonymous 7/15 - 1
7-80293801-A-C c.689A>C p.Y230S Missense 7/15 - 2
7-80293801-A-G c.689A>G p.Y230C Missense 7/15 - 1
7-80293798-CAT-C c.690_691del p.Y230* Frameshift 7/15 - 1
7-80293802-T-A c.690T>A p.Y230* Nonsense 7/15 - 1
7-80293803-A-G c.691A>G p.K231E Missense 7/15 - 2
7-80293804-A-G c.692A>G p.K231R Missense 7/15 - 1
7-80293804-A-T c.692A>T p.K231I Missense 7/15 - 1
7-80293802-TA-T c.693del p.G232Vfs*14 Frameshift 7/15 - 1
7-80293806-G-A c.694G>A p.G232S Missense 7/15 - 1
7-80293806-G-C c.694G>C p.G232R Missense 7/15 - 3
7-80293807-G-A c.695G>A p.G232D Missense 7/15 - 1
7-80293807-G-C c.695G>C p.G232A Missense 7/15 - 2
7-80293807-G-T c.695G>T p.G232V Missense 7/15 - 2
7-80293810-A-G c.698A>G p.K233R Missense 7/15 - 1
7-80293811-A-AC c.699_700insC p.R234Qfs*14 SpliceDonorInsertion 7/15 - 1
7-80293811-A-AG c.699_700insG p.R234Efs*14 SpliceDonorInsertion 7/15 - 1
7-80293811-A-AT c.699_700insT p.R234* SpliceDonorInsertion 7/15 - 1
7-80293808-T-TA c.700dup p.R234Kfs*14 SpliceDonorInsertion 7/15 - 1
7-80293813-G-A c.701G>A p.R234K Missense 7/15 - 1
7-80293810-AAAGGT-A c.701+1_701+5del - SpliceDonorDeletion - 7/14 1
7-80293814-G-C c.701+1G>C - IntronicSNV - 7/14 1
7-80293816-A-G c.701+3A>G - IntronicSNV - 7/14 1
7-80293916-C-T c.701+103C>T - IntronicSNV - 7/14 2
7-80295759-G-A c.702G>A p.R234= Synonymous 8/15 - 3
7-80295759-G-GGTAA c.702_703insGTAA p.N235Vfs*14 SpliceAcceptorInsertion 8/15 - 1
7-80295760-AAT-CAA c.703_705delinsCAA p.N235Q Missense 8/15 - 1
7-80295761-AAT-A c.704_705del p.N235Tfs*12 Frameshift 8/15 - 1
7-80295761-A-G c.704A>G p.N235S Missense 8/15 - 1
7-80295763-C-G c.706C>G p.L236V Missense 8/15 - 1
7-80295763-CT-TC c.706_707delinsTC p.L236S Missense 8/15 - 1
7-80295764-T-C c.707T>C p.L236P Missense 8/15 - 2
7-80295764-T-G c.707T>G p.L236R Missense 8/15 - 2
7-80295765-TG-T c.708del p.S237Pfs*9 Frameshift 8/15 - 1
7-80295768-C-A c.711C>A p.S237= Synonymous 8/15 - 1
7-80295768-C-CT c.712dup p.Y238Lfs*10 Frameshift 8/15 - 1
7-80295769-TAT-AAG c.712_714delinsAAG p.Y238K Missense 8/15 - 1
7-80295770-A-G c.713A>G p.Y238C Missense 8/15 - 1
7-80295771-T-A c.714T>A p.Y238* Nonsense 8/15 - 1
7-80295771-T-G c.714T>G p.Y238* Nonsense 8/15 - 1
7-80295773-G-A c.716G>A p.W239* Nonsense 8/15 - 1
7-80295773-G-T c.716G>T p.W239L Missense 8/15 - 1
7-80295774-G-A c.717G>A p.W239* Nonsense 8/15 - 1
7-80295774-G-T c.717G>T p.W239C Missense 8/15 - 1
7-80295776-A-G c.719A>G p.E240G Missense 8/15 - 1
7-80295775-G-GA c.721dup p.S241Kfs*7 Frameshift 8/15 - 1
7-80295778-AGT-TGA c.721_723delinsTGA p.S241* Nonsense 8/15 - 1
7-80295779-G-A c.722G>A p.S241N Missense 8/15 - 1
7-80295779-G-T c.722G>T p.S241I Missense 8/15 - 1
7-80295781-C-A c.724C>A p.H242N Missense 8/15 - 1
7-80295781-C-G c.724C>G p.H242D UnclassifiedSNV 8/15 - 2
7-80295782-A-G c.725A>G p.H242R Missense 8/15 - 1
7-80295784-T-C c.727T>C p.C243R Missense 8/15 - 2
7-80295784-T-G c.727T>G p.C243G Missense 8/15 - 1
7-80295785-G-A c.728G>A p.C243Y Missense 8/15 - 2
7-80295786-C-A c.729C>A p.C243* Nonsense 8/15 - 2
7-80295786-C-G c.729C>G p.C243W Missense 8/15 - 1
7-80295787-G-A c.730G>A p.D244N Missense 8/15 - 3
7-80295788-A-G c.731A>G p.D244G Missense 8/15 - 1
7-80295790-A-G c.733A>G p.M245V Missense 8/15 - 1
7-80295792-G-A c.735G>A p.M245I Missense 8/15 - 3
7-80295792-G-C c.735G>C p.M245I Missense 8/15 - 1
7-80295792-G-T c.735G>T p.M245I Missense 8/15 - 1
7-80295793-A-G c.736A>G p.I246V Missense 8/15 - 1
7-80295794-T-A c.737T>A p.I246N Missense 8/15 - 2
7-80295794-T-C c.737T>C p.I246T Missense 8/15 - 2
7-80295796-AAT-CAA c.739_741delinsCAA p.N247Q Missense 8/15 - 1
7-80295795-TA-T c.740del p.N247Mfs*39 Frameshift 8/15 - 1
7-80295797-A-G c.740A>G p.N247S Missense 8/15 - 1
7-80295799-G-A c.742G>A p.G248S Missense 8/15 - 1
7-80295799-G-C c.742G>C p.G248R Missense 8/15 - 1
7-80295799-GGT-TGA c.742_744delinsTGA p.G248* Nonsense 8/15 - 1
7-80295799-G-T c.742G>T p.G248C Missense 8/15 - 1
7-80295800-G-A c.743G>A p.G248D Missense 8/15 - 3
7-80295802-A-G c.745A>G p.T249A Missense 8/15 - 1
7-80295801-TACAGGTAAGA-T c.746_748+7del - SpliceDonorDeletion 8/15 8/14 1
7-80295803-C-A c.746C>A p.T249K Missense 8/15 - 2
7-80295803-C-G c.746C>G p.T249R Missense 8/15 - 1
7-80295803-C-T c.746C>T p.T249I Missense 8/15 - 2
7-80295803-C-CA c.747dup p.D250Rfs*10 SpliceDonorInsertion 8/15 - 1
7-80295804-A-AC c.747_748insC p.D250Rfs*10 SpliceDonorInsertion 8/15 - 1
7-80295804-A-AT c.747_748insT p.D250* SpliceDonorInsertion 8/15 - 1
7-80295805-G-A c.748G>A p.D250N Missense 8/15 - 1
7-80295805-G-C c.748G>C p.D250H Missense 8/15 - 1
7-80295805-G-T c.748G>T p.D250Y Missense 8/15 - 1
7-80295806-G-A c.748+1G>A - IntronicSNV - 8/14 1
7-80295806-G-T c.748+1G>T - IntronicSNV - 8/14 1
7-80295807-T-A c.748+2T>A - IntronicSNV - 8/14 1
7-80295867-G-T c.748+62G>T - IntronicSNV - 8/14 1
7-80299269-A-G c.749A>G p.D250G Missense 9/15 - 1
7-80299270-AT-A c.750del p.D250Efs*36 Frameshift 9/15 - 1
7-80299270-T-A c.750T>A p.D250E Missense 9/15 - 1
7-80299270-T-G c.750T>G p.D250E Missense 9/15 - 1
7-80299271-G-A c.751G>A p.A251T Missense 9/15 - 1
7-80299271-G-T c.751G>T p.A251S Missense 9/15 - 2
7-80299272-C-A c.752C>A p.A251E Missense 9/15 - 1
7-80299272-C-T c.752C>T p.A251V Missense 9/15 - 1
7-80299274-G-A c.754G>A p.A252T Missense 9/15 - 1
7-80299275-C-G c.755C>G p.A252G Missense 9/15 - 1
7-80299275-C-T c.755C>T p.A252V Missense 9/15 - 3
7-80299277-TCA-GAC c.757_759delinsGAC p.S253D Missense 9/15 - 1
7-80299277-T-G c.757T>G p.S253A Missense 9/15 - 1
7-80299278-CA-TT c.758_759delinsTT p.S253F Missense 9/15 - 1
7-80299278-C-G c.758C>G p.S253* Nonsense 9/15 - 1
7-80299280-T-C c.760T>C p.F254L Missense 9/15 - 8
7-80299280-T-G c.760T>G p.F254V Missense 9/15 - 1
7-80299282-T-A c.762T>A p.F254L Missense 9/15 - 3
7-80299282-T-G c.762T>G p.F254L Missense 9/15 - 4
7-80299281-T-C c.761T>C p.F254S Missense 9/15 - 3
7-80299281-T-G c.761T>G p.F254C Missense 9/15 - 1
7-80299283-C-A c.763C>A p.P255T Missense 9/15 - 1
7-80299283-C-T c.763C>T p.P255S Missense 9/15 - 2
7-80299283-C-CCTTT c.764_765insTTTC p.P256Ffs*5 Frameshift 9/15 - 1
7-80299284-C-A c.764C>A p.P255Q Missense 9/15 - 2
7-80299284-C-G c.764C>G p.P255R Missense 9/15 - 2
7-80299284-C-T c.764C>T p.P255L Missense 9/15 - 6
7-80299286-C-A c.766C>A p.P256T Missense 9/15 - 2
7-80299286-C-T c.766C>T p.P256S Missense 9/15 - 1
7-80299287-C-A c.767C>A p.P256H Missense 9/15 - 2
7-80299287-C-G c.767C>G p.P256R Missense 9/15 - 1
7-80299287-C-T c.767C>T p.P256L Missense 9/15 - 1
7-80299290-T-C c.770T>C p.F257S Missense 9/15 - 1
7-80299295-G-T c.775G>T p.E259* Nonsense 9/15 - 1
7-80299297-G-A c.777G>A p.E259= Synonymous 9/15 - 1
7-80299299-A-G c.779A>G p.K260R Missense 9/15 - 1
7-80299302-G-GC c.784dup p.Q262Pfs*9 Frameshift 9/15 - 2
7-80299305-AGGTATTGCAGTTCTTTTCTTCT-A c.787_808del p.V263Ifs*16 Frameshift 9/15 - 4
7-80299306-GGTATT-G c.788_792del p.V263Afs*6 Frameshift 9/15 - 1
7-80299308-T-C c.788T>C p.V263A Missense 9/15 - 2
7-80299308-T-G c.788T>G p.V263G Missense 9/15 - 1
7-80299306-GGTATTGCA-G c.789_796del p.Q265Ffs*3 Frameshift 9/15 - 1
7-80299310-T-A c.790T>A p.L264M Missense 9/15 - 2
7-80299308-TATTGCAGTTCTTTTCTTCTG-T c.791_810del p.L264Yfs*10 Frameshift 9/15 - 1
7-80299311-T-C c.791T>C p.L264S Missense 9/15 - 2
7-80299312-G-T c.792G>T p.L264F Missense 9/15 - 1
7-80299313-C-T c.793C>T p.Q265* Nonsense 9/15 - 1
7-80299316-T-C c.796T>C p.F266L Missense 9/15 - 1
7-80299318-C-G c.798C>G p.F266L Missense 9/15 - 1
7-80299318-C-A c.798C>A p.F266L Missense 9/15 - 4
7-80299319-T-A c.799T>A p.F267I Missense 9/15 - 1
7-80299319-T-G c.799T>G p.F267V Missense 9/15 - 1
7-80299321-T-A c.801T>A p.F267L Missense 9/15 - 1
7-80299320-T-A c.800T>A p.F267Y Missense 9/15 - 1
7-80299320-T-G c.800T>G p.F267C Missense 9/15 - 1
7-80299315-GTTCTT-G c.801_805del p.S268* Frameshift 9/15 - 1
7-80299321-T-G c.801T>G p.F267L Missense 9/15 - 1
7-80299323-C-T c.803C>T p.S268F Missense 9/15 - 1
7-80299324-T-A c.804T>A p.S268= Synonymous 9/15 - 1
7-80299325-TC-CT c.805_806delinsCT p.S269L Missense 9/15 - 1
7-80299326-C-A c.806C>A p.S269Y Missense 9/15 - 1
7-80299326-C-G c.806C>G p.S269C Missense 9/15 - 1
7-80299326-C-T c.806C>T p.S269F Missense 9/15 - 1
7-80299328-G-A c.808G>A p.D270N Missense 9/15 - 3
7-80299328-G-T c.808G>T p.D270Y Missense 9/15 - 1
7-80299329-A-G c.809A>G p.D270G Missense 9/15 - 1
7-80299331-A-C c.811A>C p.I271L Missense 9/15 - 1
7-80299331-TA-T c.811del p.I271Ffs*15 Frameshift 9/15 - 1
7-80299332-T-C c.812T>C p.I271T Missense 9/15 - 2
7-80299333-T-G c.813T>G p.I271M Missense 9/15 - 1
7-80299335-G-C c.815G>C p.C272S Missense 9/15 - 1
7-80299335-G-T c.815G>T p.C272F Missense 9/15 - 2
7-80299337-A-ACAAGT c.817_818insCAAGT p.R273Tfs*15 SpliceDonorInsertion 9/15 - 2
7-80299337-A-G c.817A>G p.R273G Missense 9/15 - 2
7-80299337-A-T c.817A>T p.R273W Missense 9/15 - 2
7-80299338-G-A c.818G>A p.R273K Missense 9/15 - 2
7-80299338-G-C c.818G>C p.R273T Missense 9/15 - 1
7-80299338-G-T c.818G>T p.R273M Missense 9/15 - 1
7-80299335-GCAGGTAAGA-G c.818+1_818+9del - SpliceDonorDeletion - 9/14 1
7-80299339-G-A c.818+1G>A - IntronicSNV - 9/14 1
7-80299339-G-C c.818+1G>C - IntronicSNV - 9/14 1
7-80299339-G-T c.818+1G>T - IntronicSNV - 9/14 1
7-80299340-T-C c.818+2T>C - IntronicSNV - 9/14 1
7-80299343-G-A c.818+5G>A - IntronicSNV - 9/14 2
7-80299344-A-G c.818+6A>G - IntronicSNV - 9/14 1
7-80300291-AG-A c.819del p.R273Sfs*13 Frameshift 10/15 - 1
7-80300294-TC-AG c.820_821delinsAG p.S274R Missense 10/15 - 1
7-80300294-TC-GG c.820_821delinsGG p.S274G Missense 10/15 - 1
7-80300295-C-T c.821C>T p.S274L Missense 10/15 - 1
7-80300297-A-C c.823A>C p.I275L Missense 10/15 - 1
7-80300297-A-G c.823A>G p.I275V Missense 10/15 - 1
7-80300299-C-A c.825C>A p.I275= Synonymous 10/15 - 1
7-80300299-C-G c.825C>G p.I275M Missense 10/15 - 1
7-80300299-C-T c.825C>T p.I275= Synonymous 10/15 - 3
7-80300301-A-G c.827A>G p.Y276C Missense 10/15 - 3
7-80300302-AT-A c.828del p.Y276* Frameshift 10/15 - 1
7-80300302-T-G c.828T>G p.Y276* Nonsense 10/15 - 1
7-80300304-C-A c.830C>A p.A277D Missense 10/15 - 1
7-80300309-T-C c.835T>C p.F279L Missense 10/15 - 1
7-80300310-T-A c.836T>A p.F279Y Missense 10/15 - 1
7-80300310-T-G c.836T>G p.F279C Missense 10/15 - 1
7-80300308-AT-A c.837del p.F279Lfs*7 Frameshift 10/15 - 1
7-80300312-G-A c.838G>A p.E280K Missense 10/15 - 2
7-80300313-A-C c.839A>C p.E280A Missense 10/15 - 1
7-80300313-A-G c.839A>G p.E280G Missense 10/15 - 1
7-80300316-C-T c.842C>T p.S281F Missense 10/15 - 1
7-80300317-C-A c.843C>A p.S281= Synonymous 10/15 - 1
7-80300317-C-G c.843C>G p.S281= Synonymous 10/15 - 1
7-80300317-C-T c.843C>T p.S281= Synonymous 10/15 - 2
7-80300318-G-A c.844G>A p.D282N Missense 10/15 - 3
7-80300320-C-T c.846C>T p.D282= Synonymous 10/15 - 2
7-80300321-G-T c.847G>T p.V283F Missense 10/15 - 1
7-80300322-T-C c.848T>C p.V283A Missense 10/15 - 1
7-80300322-T-G c.848T>G p.V283G Missense 10/15 - 1
7-80300324-A-G c.850A>G p.N284D Missense 10/15 - 1
7-80300325-A-T c.851A>T p.N284I Missense 10/15 - 1
7-80300329-TG-T c.855del p.G287Efs*42 Frameshift 10/15 - 1
7-80300331-A-G c.857A>G p.K286R Missense 10/15 - 1
7-80300332-A-C c.858A>C p.K286N Missense 10/15 - 1
7-80300332-A-T c.858A>T p.K286N Missense 10/15 - 1
7-80300333-GGA-TGT c.859_861delinsTGT p.G287C Missense 10/15 - 1
7-80300333-G-T c.859G>T p.G287* Nonsense 10/15 - 3
7-80300334-G-A c.860G>A p.G287E Missense 10/15 - 1
7-80300334-GA-AC c.860_861delinsAC p.G287D Missense 10/15 - 1
7-80300334-G-T c.860G>T p.G287V Missense 10/15 - 3
7-80300336-A-G c.862A>G p.I288V Missense 10/15 - 1
7-80300337-T-A c.863T>A p.I288N Missense 10/15 - 1
7-80300337-T-C c.863T>C p.I288T Missense 10/15 - 1
7-80300339-C-T c.865C>T p.P289S Missense 10/15 - 2
7-80300339-C-CCAAGT c.866_867insAAGTC p.V290Sfs*41 Frameshift 10/15 - 2
7-80300340-C-T c.866C>T p.P289L Missense 10/15 - 1
7-80300341-T-C c.867T>C p.P289= Synonymous 10/15 - 1
7-80300341-T-G c.867T>G p.P289= Synonymous 10/15 - 1
7-80300342-G-A c.868G>A p.V290M Missense 10/15 - 7
7-80300343-T-C c.869T>C p.V290A Missense 10/15 - 1
7-80300345-T-C c.871T>C p.Y291H Missense 10/15 - 1
7-80300346-A-C c.872A>C p.Y291S Missense 10/15 - 1
7-80300346-A-G c.872A>G p.Y291C Missense 10/15 - 4
7-80300347-T-A c.873T>A p.Y291* Nonsense 10/15 - 1
7-80300348-AGA-TGT c.874_876delinsTGT p.R292C Missense 10/15 - 1
7-80300348-AG-GA c.874_875delinsGA p.R292E Missense 10/15 - 1
7-80300349-G-A c.875G>A p.R292K Missense 10/15 - 3
7-80300349-G-C c.875G>C p.R292T Missense 10/15 - 1
7-80300349-G-T c.875G>T p.R292I Missense 10/15 - 3
7-80300350-A-C c.876A>C p.R292S Missense 10/15 - 1
7-80300350-A-T c.876A>T p.R292S Missense 10/15 - 1
7-80300352-T-C c.878T>C p.F293S Missense 10/15 - 1
7-80300353-T-C c.879T>C p.F293= Synonymous 10/15 - 1
7-80300353-T-G c.879T>G p.F293L Missense 10/15 - 1
7-80300354-G-C c.880G>C p.V294L Missense 10/15 - 1
7-80300354-G-T c.880G>T p.V294F Missense 10/15 - 1
7-80300355-T-C c.881T>C p.V294A Missense 10/15 - 1
7-80300357-C-A c.883C>A p.L295I Missense 10/15 - 3
7-80300357-CT-AG c.883_884inv p.L295S Missense 10/15 - 2
7-80300358-T-C c.884T>C p.L295P Missense 10/15 - 1
7-80300363-T-A c.889T>A p.S297T Missense 10/15 - 1
7-80300363-T-G c.889T>G p.S297A Missense 10/15 - 2
7-80300364-C-T c.890C>T p.S297F Missense 10/15 - 1
7-80300368-G-A c.894G>A p.K298= Synonymous 10/15 - 2
7-80300369-G-A c.895G>A p.A299T Missense 10/15 - 1
7-80300369-G-T c.895G>T p.A299S Missense 10/15 - 1
7-80300370-C-A c.896C>A p.A299D Missense 10/15 - 1
7-80300370-C-G c.896C>G p.A299G Missense 10/15 - 2
7-80300370-C-T c.896C>T p.A299V Missense 10/15 - 3
7-80300371-C-A c.897C>A p.A299= Synonymous 10/15 - 1
7-80300371-C-G c.897C>G p.A299= Synonymous 10/15 - 1
7-80300371-C-T c.897C>T p.A299= Synonymous 10/15 - 1
7-80300372-T-A c.898T>A p.F300I Missense 10/15 - 1
7-80300372-T-C c.898T>C p.F300L Missense 10/15 - 1
7-80300374-T-A c.900T>A p.F300L Missense 10/15 - 1
7-80300374-T-G c.900T>G p.F300L Missense 10/15 - 1
7-80300373-T-C c.899T>C p.F300S Missense 10/15 - 1
7-80300373-T-G c.899T>G p.F300C Missense 10/15 - 3
7-80300375-G-A c.901G>A p.A301T Missense 10/15 - 2
7-80300375-G-C c.901G>C p.A301P Missense 10/15 - 1
7-80300376-C-G c.902C>G p.A301G Missense 10/15 - 1
7-80300376-C-T c.902C>T p.A301V Missense 10/15 - 1
7-80300378-T-C c.904T>C p.S302P Missense 10/15 - 1
7-80300378-TC-CT c.904_905delinsCT p.S302L Missense 10/15 - 1
7-80300378-TC-GG c.904_905delinsGG p.S302G Missense 10/15 - 1
7-80300379-C-T c.905C>T p.S302F Missense 10/15 - 1
7-80300381-C-G c.907C>G p.P303A Missense 10/15 - 1
7-80300382-CCA-C c.908_909del p.P303Rfs*2 Frameshift 10/15 - 1
7-80300384-G-A c.910G>A p.V304I Missense 10/15 - 1
7-80300385-T-C c.911T>C p.V304A Missense 10/15 - 1
7-80300385-T-G c.911T>G p.V304G Missense 10/15 - 1
7-80300387-G-A c.913G>A p.E305K Missense 10/15 - 1
7-80300388-A-C c.914A>C p.E305A Missense 10/15 - 1
7-80300389-A-C c.915A>C p.E305D Missense 10/15 - 1
7-80300389-A-T c.915A>T p.E305D Missense 10/15 - 1
7-80300391-A-C c.917A>C p.N306T Missense 10/15 - 3
7-80300391-A-G c.917A>G p.N306S Missense 10/15 - 2
7-80300392-C-A c.918C>A p.N306K Missense 10/15 - 2
7-80300393-C-A c.919C>A p.P307T Missense 10/15 - 1
7-80300393-C-T c.919C>T p.P307S Missense 10/15 - 1
7-80300394-C-T c.920C>T p.P307L Missense 10/15 - 1
7-80300396-G-A c.922G>A p.D308N Missense 10/15 - 1
7-80300396-G-C c.922G>C p.D308H Missense 10/15 - 3
7-80300396-G-T c.922G>T p.D308Y Missense 10/15 - 1
7-80300397-A-G c.923A>G p.D308G Missense 10/15 - 1
7-80300398-C-A c.924C>A p.D308E Missense 10/15 - 1
7-80300398-C-G c.924C>G p.D308E Missense 10/15 - 1
7-80300400-A-G c.926A>G p.N309S Missense 10/15 - 1
7-80300401-C-CTCAAG c.928_929insCAAGT p.Y310Sfs*21 Frameshift 10/15 - 2
7-80300404-T-A c.930T>A p.Y310* Nonsense 10/15 - 1
7-80300404-T-G c.930T>G p.Y310* Nonsense 10/15 - 1
7-80300405-T-A c.931T>A p.C311S Missense 10/15 - 1
7-80300405-TG-AC c.931_932delinsAC p.C311T Missense 10/15 - 1
7-80300406-G-C c.932G>C p.C311S Missense 10/15 - 3
7-80300406-G-T c.932G>T p.C311F Missense 10/15 - 2
7-80300408-T-A c.934T>A p.F312I Missense 10/15 - 1
7-80300409-T-C c.935T>C p.F312S Missense 10/15 - 1
7-80300412-G-A c.938G>A p.C313Y Missense 10/15 - 1
7-80300413-C-A c.939C>A p.C313* Nonsense 10/15 - 2
7-80300414-A-T c.940A>T p.T314S Missense 10/15 - 1
7-80300416-A-AT c.942_943insT p.E315* Nonsense 10/15 - 1
7-80300417-G-A c.943G>A p.E315K Missense 10/15 - 1
7-80300417-G-T c.943G>T p.E315* Nonsense 10/15 - 1
7-80300418-A-G c.944A>G p.E315G Missense 10/15 - 1
7-80300417-GAAAA-G c.946_949del p.K316Lfs*12 Frameshift 10/15 - 1
7-80300420-A-G c.946A>G p.K316E Missense 10/15 - 1
7-80300422-A-C c.948A>C p.K316N Missense 10/15 - 1
7-80300422-A-T c.948A>T p.K316N Missense 10/15 - 1
7-80300417-G-GA c.949dup p.I317Nfs*36 Frameshift 10/15 - 8
7-80300423-A-T c.949A>T p.I317F Missense 10/15 - 2
7-80300424-T-C c.950T>C p.I317T Missense 10/15 - 1
7-80300424-T-G c.950T>G p.I317S Missense 10/15 - 1
7-80300425-T-A c.951T>A p.I317= Synonymous 10/15 - 3
7-80300425-T-C c.951T>C p.I317= Synonymous 10/15 - 2
7-80300425-T-G c.951T>G p.I317M Missense 10/15 - 1
7-80300429-T-A c.955T>A p.S319T Missense 10/15 - 1
7-80300429-T-C c.955T>C p.S319P Missense 10/15 - 1
7-80300430-C-T c.956C>T p.S319L Missense 10/15 - 1
7-80300435-AAT-CAA c.961_963delinsCAA p.N321Q Missense 10/15 - 1
7-80300435-AAT-TAA c.961_963delinsTAA p.N321* Nonsense 10/15 - 1
7-80300435-A-G c.961A>G p.N321D Missense 10/15 - 1
7-80300430-C-CA c.962dup p.N321Kfs*32 Frameshift 10/15 - 1
7-80300436-A-G c.962A>G p.N321S Missense 10/15 - 1
7-80300437-T-A c.963T>A p.N321K Missense 10/15 - 1
7-80300437-T-G c.963T>G p.N321K Missense 10/15 - 2
7-80300440-T-C c.966T>C p.C322= Synonymous 10/15 - 1
7-80300440-T-TA c.967dup p.T323Nfs*30 Frameshift 10/15 - 1
7-80300441-A-C c.967A>C p.T323P Missense 10/15 - 1
7-80300441-A-G c.967A>G p.T323A Missense 10/15 - 2
7-80300442-C-T c.968C>T p.T323I Missense 10/15 - 3
7-80300443-A-C c.969A>C p.T323= Synonymous 10/15 - 1
7-80300443-A-G c.969A>G p.T323= Synonymous 10/15 - 2
7-80300443-A-T c.969A>T p.T323= Synonymous 10/15 - 2
7-80300444-T-A c.970T>A p.S324T Missense 10/15 - 3
7-80300441-ACAT-A c.971_973del p.S324del InFrameDeletion 10/15 - 1
7-80300445-C-T c.971C>T p.S324L Missense 10/15 - 2
7-80300448-A-AT c.975dup p.G326Wfs*27 Frameshift 10/15 - 1
7-80300449-T-A c.975T>A p.Y325* Nonsense 10/15 - 8
7-80300449-T-C c.975T>C p.Y325= Synonymous 10/15 - 1
7-80300449-T-G c.975T>G p.Y325* Nonsense 10/15 - 27
7-80300450-G-T c.976G>T p.G326C Missense 10/15 - 2
7-80300451-G-A c.977G>A p.G326D Missense 10/15 - 2
7-80300453-G-A c.979G>A p.V327M Missense 10/15 - 1
7-80300454-T-A c.980T>A p.V327E Missense 10/15 - 2
7-80300454-T-C c.980T>C p.V327A Missense 10/15 - 2
7-80300454-T-G c.980T>G p.V327G Missense 10/15 - 1
7-80300456-C-T c.982C>T p.L328= Synonymous 10/15 - 1
7-80300461-C-A c.987C>A p.D329E Missense 10/15 - 1
7-80300462-A-T c.988A>T p.I330F Missense 10/15 - 1
7-80300463-T-G c.989T>G p.I330S Missense 10/15 - 1
7-80300464-C-G c.990C>G p.I330M Missense 10/15 - 2
7-80300465-A-G c.991A>G p.S331G Missense 10/15 - 1
7-80300465-AG-TT c.991_992delinsTT p.S331F Missense 10/15 - 1
7-80300466-G-A c.992G>A p.S331N Missense 10/15 - 1
7-80300467-C-G c.993C>G p.S331R Missense 10/15 - 1
7-80300471-TG-CA c.997_998inv p.C333H Missense 10/15 - 4
7-80300471-TG-GC c.997_998delinsGC p.C333A Missense 10/15 - 1
7-80300472-G-A c.998G>A p.C333Y Missense 10/15 - 1
7-80300472-G-T c.998G>T p.C333F Missense 10/15 - 1
7-80300473-C-T c.999C>T p.C333= Synonymous 10/15 - 1
7-80300473-GCAAAGAAGGTGAGTAAATAACCTCAGTAGCACAGTCCATACCATAATTTGTGATATTCT-G c.999_1006+51del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 10/15 10/14 1
7-80300474-A-G c.1000A>G p.K334E Missense 10/15 - 4
7-80300475-A-G c.1001A>G p.K334R Missense 10/15 - 1
7-80300477-G-T c.1003G>T p.E335* Nonsense 10/15 - 1
7-80300474-AAAG-A c.1004_1006del p.E335del InFrameDeletion 10/15 - 1
7-80300480-G-A c.1006G>A p.G336R Missense 10/15 - 3
7-80300480-G-C c.1006G>C p.G336R Missense 10/15 - 2
7-80300480-G-T c.1006G>T p.G336W Missense 10/15 - 1
7-80300482-T-C c.1006+2T>C - IntronicSNV - 10/14 1
7-80300482-T-G c.1006+2T>G - IntronicSNV - 10/14 3
7-80301238-G-A c.1007G>A p.G336E Missense 11/15 - 2
7-80301239-G-GA c.1009dup p.R337Kfs*16 Frameshift 11/15 - 1
7-80301240-AGA-TGT c.1009_1011delinsTGT p.R337C Missense 11/15 - 1
7-80301240-AG-CT c.1009_1010inv p.R337L Missense 11/15 - 1
7-80301242-GA-G c.1011del p.R337Sfs*24 Frameshift 11/15 - 1
7-80301244-C-A c.1013C>A p.P338H Missense 11/15 - 1
7-80301244-C-G c.1013C>G p.P338R Missense 11/15 - 2
7-80301244-C-T c.1013C>T p.P338L Missense 11/15 - 5
7-80301246-G-A c.1015G>A p.V339M Missense 11/15 - 1
7-80301247-T-A c.1016T>A p.V339E Missense 11/15 - 1
7-80301247-T-C c.1016T>C p.V339A Missense 11/15 - 1
7-80301247-T-G c.1016T>G p.V339G Missense 11/15 - 1
7-80301248-G-A c.1017G>A p.V339= Synonymous 11/15 - 1
7-80301248-TGTA-T c.1017_1019del p.Y340del InFrameDeletion 11/15 - 1
7-80301249-T-A c.1018T>A p.Y340N Missense 11/15 - 1
7-80301249-T-C c.1018T>C p.Y340H Missense 11/15 - 1
7-80301250-A-G c.1019A>G p.Y340C Missense 11/15 - 3
7-80301251-C-T c.1020C>T p.Y340= Synonymous 11/15 - 1
7-80301252-A-C c.1021A>C p.I341L Missense 11/15 - 1
7-80301252-A-G c.1021A>G p.I341V Missense 11/15 - 1
7-80301253-T-A c.1022T>A p.I341N Missense 11/15 - 1
7-80301254-T-G c.1023T>G p.I341M Missense 11/15 - 1
7-80301252-AT-A c.1024del p.S342Hfs*19 Frameshift 11/15 - 1
7-80301255-T-G c.1024T>G p.S342A Missense 11/15 - 1
7-80301256-CA-TT c.1025_1026delinsTT p.S342F Missense 11/15 - 1
7-80301258-C-A c.1027C>A p.L343I Missense 11/15 - 1
7-80301258-C-G c.1027C>G p.L343V Missense 11/15 - 2
7-80301258-C-T c.1027C>T p.L343F Missense 11/15 - 2
7-80301259-T-G c.1028T>G p.L343R Missense 11/15 - 1
7-80301261-C-T c.1030C>T p.P344S Missense 11/15 - 5
7-80301262-C-T c.1031C>T p.P344L Missense 11/15 - 2
7-80301265-A-G c.1034A>G p.H345R Missense 11/15 - 2
7-80301265-ATTTTCTG-A c.1036_1042del p.F346Mfs*13 Frameshift 11/15 - 1
7-80301268-T-C c.1037T>C p.F346S Missense 11/15 - 2
7-80301270-C-G c.1039C>G p.L347V Missense 11/15 - 1
7-80301270-C-T c.1039C>T p.L347= Synonymous 11/15 - 3
7-80301270-CT-TC c.1039_1040delinsTC p.L347S Missense 11/15 - 1
7-80301274-A-G c.1043A>G p.Y348C Missense 11/15 - 2
7-80301274-A-T c.1043A>T p.Y348F Missense 11/15 - 1
7-80301275-T-G c.1044T>G p.Y348* Nonsense 11/15 - 2
7-80301276-G-C c.1045G>C p.A349P Missense 11/15 - 1
7-80301277-C-T c.1046C>T p.A349V Missense 11/15 - 1
7-80301278-CAAGTCCTGATGT-C c.1047_1058del p.P351_S354del InFrameDeletion 11/15 - 1
7-80301279-A-G c.1048A>G p.S350G Missense 11/15 - 1
7-80301283-C-T c.1052C>T p.P351L Missense 11/15 - 1
7-80301285-G-A c.1054G>A p.D352N Missense 11/15 - 2
7-80301285-TG-T c.1054del p.D352Mfs*9 Frameshift 11/15 - 1
7-80301287-AT-A c.1056del p.D352Efs*9 Frameshift 11/15 - 1
7-80301288-GT-TA c.1057_1058delinsTA p.V353Y Missense 11/15 - 1
7-80301289-T-C c.1058T>C p.V353A Missense 11/15 - 1
7-80301289-T-G c.1058T>G p.V353G Missense 11/15 - 1
7-80301292-C-A c.1061C>A p.S354* Nonsense 11/15 - 1
7-80301294-G-T c.1063G>T p.E355* Nonsense 11/15 - 1
7-80301297-C-T c.1066C>T p.P356S Missense 11/15 - 1
7-80301298-C-T c.1067C>T p.P356L Missense 11/15 - 3
7-80301294-G-GAACCTCAAGTAACTGGAAAAATA c.1068_1069insCAAGTAACTGGAAAAATAAACCT p.I357Qfs*12 Frameshift 11/15 - 1
7-80301300-A-C c.1069A>C p.I357L Missense 11/15 - 1
7-80301300-A-G c.1069A>G p.I357V Missense 11/15 - 1
7-80301302-T-G c.1071T>G p.I357M Missense 11/15 - 1
7-80301303-G-A c.1072G>A p.D358N Missense 11/15 - 1
7-80301303-G-C c.1072G>C p.D358H Missense 11/15 - 1
7-80301303-G-T c.1072G>T p.D358Y Missense 11/15 - 1
7-80301305-T-A c.1074T>A p.D358E Missense 11/15 - 1
7-80301305-T-G c.1074T>G p.D358E Missense 11/15 - 2
7-80301306-G-T c.1075G>T p.G359* Nonsense 11/15 - 1
7-80301307-G-C c.1076G>C p.G359A Missense 11/15 - 1
7-80301307-G-T c.1076G>T p.G359V Missense 11/15 - 1
7-80301309-T-A c.1078T>A p.L360I Missense 11/15 - 1
7-80301310-T-A c.1079T>A p.L360* Nonsense 11/15 - 5
7-80301310-T-C c.1079T>C p.L360S Missense 11/15 - 1
7-80301310-T-G c.1079T>G p.L360* Nonsense 11/15 - 11
7-80301311-A-C c.1080A>C p.L360F Missense 11/15 - 1
7-80301311-TAAA-T c.1080_1082del p.L360_N361delinsF MultiAAMissense 11/15 - 1
7-80301310-TA-T c.1082del p.N361Tfs*16 Frameshift 11/15 - 1
7-80301310-T-TA c.1082dup p.N361Kfs*4 Frameshift 11/15 - 1
7-80301314-C-A c.1083C>A p.N361K Missense 11/15 - 1
7-80301315-C-T c.1084C>T p.P362S Missense 11/15 - 2
7-80301316-C-A c.1085C>A p.P362Q Missense 11/15 - 1
7-80301316-C-T c.1085C>T p.P362L Missense 11/15 - 2
7-80301319-A-G c.1088A>G p.N363S Missense 11/15 - 3
7-80301321-G-A c.1090G>A p.E364K Missense 11/15 - 4
7-80301321-G-C c.1090G>C p.E364Q Missense 11/15 - 1
7-80301322-A-G c.1091A>G p.E364G Missense 11/15 - 1
7-80301321-GA-G c.1092del p.E365Kfs*12 Frameshift 11/15 - 1
7-80301324-G-A c.1093G>A p.E365K Missense 11/15 - 2
7-80301325-A-C c.1094A>C p.E365A Missense 11/15 - 1
7-80301320-TGAA-T c.1096_1098del p.E366del InFrameDeletion 11/15 - 1
7-80301327-G-A c.1096G>A p.E366K Missense 11/15 - 1
7-80301330-C-A c.1099C>A p.H367N Missense 11/15 - 1
7-80301330-C-T c.1099C>T p.H367Y Missense 11/15 - 2
7-80301331-A-C c.1100A>C p.H367P Missense 11/15 - 1
7-80301331-A-G c.1100A>G p.H367R Missense 11/15 - 1
7-80301332-T-A c.1101T>A p.H367Q Missense 11/15 - 1
7-80301332-T-C c.1101T>C p.H367= Synonymous 11/15 - 1
7-80301333-AG-CA c.1102_1103delinsCA p.R368Q Missense 11/15 - 1
7-80301333-AGG-CAT c.1102_1104delinsCAT p.R368H Missense 11/15 - 1
7-80301335-G-C c.1104G>C p.R368S Missense 11/15 - 1
7-80301335-G-T c.1104G>T p.R368S Missense 11/15 - 2
7-80301337-C-A c.1106C>A p.T369K Missense 11/15 - 1
7-80301337-C-G c.1106C>G p.T369R Missense 11/15 - 1
7-80301340-A-G c.1109A>G p.Y370C Missense 11/15 - 1
7-80301339-TACTTGGATATTG-T c.1110_1121del p.Y370_E374delins* MultiAAMissense 11/15 - 2
7-80301341-C-G c.1110C>G p.Y370* Nonsense 11/15 - 1
7-80301342-T-A c.1111T>A p.L371M Missense 11/15 - 1
7-80301342-T-C c.1111T>C p.L371= Synonymous 11/15 - 1
7-80301344-G-A c.1113G>A p.L371= Synonymous 11/15 - 1
7-80301343-T-C c.1112T>C p.L371S Missense 11/15 - 1
7-80301345-G-A c.1114G>A p.D372N Missense 11/15 - 3
7-80301346-A-G c.1115A>G p.D372G Missense 11/15 - 1
7-80301346-A-ATCAAGTAACTGGAAAAATAAACC c.1116_1117insCAAGTAACTGGAAAAATAAACCT p.I373Qfs*12 Frameshift 11/15 - 1
7-80301348-A-G c.1117A>G p.I373V Missense 11/15 - 5
7-80301354-C-A c.1123C>A p.P375T Missense 11/15 - 1
7-80301354-C-T c.1123C>T p.P375S Missense 11/15 - 1
7-80301355-C-A c.1124C>A p.P375H Missense 11/15 - 1
7-80301355-C-T c.1124C>T p.P375L Missense 11/15 - 1
7-80301357-G-A c.1125+1G>A - IntronicSNV - 11/14 1
7-80302086-A-G c.1126A>G p.I376V Missense 12/15 - 1
7-80302089-A-T c.1129A>T p.T377S Missense 12/15 - 1
7-80302090-C-G c.1130C>G p.T377S Missense 12/15 - 2
7-80302090-C-T c.1130C>T p.T377I Missense 12/15 - 1
7-80302092-G-A c.1132G>A p.G378R Missense 12/15 - 5
7-80302092-G-C c.1132G>C p.G378R Missense 12/15 - 1
7-80302092-G-T c.1132G>T p.G378* Nonsense 12/15 - 1
7-80302093-G-C c.1133G>C p.G378A Missense 12/15 - 1
7-80302093-G-T c.1133G>T p.G378V Missense 12/15 - 8
7-80302095-T-C c.1135T>C p.F379L Missense 12/15 - 1
7-80302097-C-A c.1137C>A p.F379L Missense 12/15 - 1
7-80302097-C-G c.1137C>G p.F379L Missense 12/15 - 1
7-80302098-A-C c.1138A>C p.T380P Missense 12/15 - 3
7-80302099-C-A c.1139C>A p.T380N Missense 12/15 - 1
7-80302099-C-G c.1139C>G p.T380S Missense 12/15 - 2
7-80302101-T-G c.1141T>G p.L381V Missense 12/15 - 1
7-80302102-T-C c.1142T>C p.L381S Missense 12/15 - 2
7-80302102-T-G c.1142T>G p.L381* Nonsense 12/15 - 1
7-80302104-C-T c.1144C>T p.Q382* Nonsense 12/15 - 6
7-80302105-A-C c.1145A>C p.Q382P Missense 12/15 - 1
7-80302107-T-A c.1147T>A p.F383I Missense 12/15 - 1
7-80302107-T-G c.1147T>G p.F383V Missense 12/15 - 1
7-80302108-T-C c.1148T>C p.F383S Missense 12/15 - 1
7-80302110-G-A c.1150G>A p.A384T Missense 12/15 - 1
7-80302110-G-C c.1150G>C p.A384P Missense 12/15 - 3
7-80302110-TG-T c.1150del p.A384Qfs*19 Frameshift 12/15 - 3
7-80302111-C-T c.1151C>T p.A384V Missense 12/15 - 1
7-80302113-A-G c.1153A>G p.K385E Missense 12/15 - 1
7-80302114-A-G c.1154A>G p.K385R Missense 12/15 - 1
7-80302111-C-CA c.1155dup p.R386Tfs*32 Frameshift 12/15 - 1
7-80302116-C-G c.1156C>G p.R386G Missense 12/15 - 1
7-80302116-C-T c.1156C>T p.R386W Missense 12/15 - 12
7-80302117-G-A c.1157G>A p.R386Q Missense 12/15 - 5
7-80302117-GG-AT c.1157_1158delinsAT p.R386H Missense 12/15 - 1
7-80302117-G-T c.1157G>T p.R386L Missense 12/15 - 1
7-80302123-A-T c.1163A>T p.Q388L Missense 12/15 - 3
7-80302129-A-G c.1169A>G p.N390S Missense 12/15 - 1
7-80302130-C-A c.1170C>A p.N390K Missense 12/15 - 1
7-80302130-C-G c.1170C>G p.N390K Missense 12/15 - 2
7-80302134-T-C c.1174T>C p.L392= Synonymous 12/15 - 1
7-80302134-T-G c.1174T>G p.L392V Missense 12/15 - 1
7-80302136-G-A c.1176G>A p.L392= Synonymous 12/15 - 1
7-80302135-T-C c.1175T>C p.L392S Missense 12/15 - 1
7-80302136-G-T c.1176G>T p.L392F Missense 12/15 - 1
7-80302138-T-C c.1178T>C p.V393A Missense 12/15 - 1
7-80302138-T-TTCAAGTAACTGGAAAAATAAACC c.1178_1179insTCAAGTAACTGGAAAAATAAACC p.K394Qfs*17 Frameshift 12/15 - 1
7-80302141-A-G c.1181A>G p.K394R Missense 12/15 - 3
7-80302142-G-T c.1182G>T p.K394N Missense 12/15 - 2
7-80302143-C-A c.1183C>A p.P395T Missense 12/15 - 2
7-80302144-C-T c.1184C>T p.P395L Missense 12/15 - 3
7-80302147-C-A c.1187C>A p.S396* Nonsense 12/15 - 1
7-80302148-CA-C c.1188del p.E397Kfs*6 Frameshift 12/15 - 1
7-80302147-CAGAA-C c.1189_1192del p.E397Kfs*5 Frameshift 12/15 - 1
7-80302148-A-AG c.1189dup p.E397Gfs*21 Frameshift 12/15 - 1
7-80302149-G-C c.1189G>C p.E397Q Missense 12/15 - 1
7-80302149-G-T c.1189G>T p.E397* Nonsense 12/15 - 1
7-80302150-A-C c.1190A>C p.E397A Missense 12/15 - 1
7-80302150-A-G c.1190A>G p.E397G Missense 12/15 - 1
7-80302151-A-C c.1191A>C p.E397D Missense 12/15 - 1
7-80302151-A-T c.1191A>T p.E397D Missense 12/15 - 1
7-80302149-GA-G c.1195del p.I399Ffs*4 Frameshift 12/15 - 1
7-80302149-G-GA c.1195dup p.I399Nfs*19 Frameshift 12/15 - 1
7-80302155-A-C c.1195A>C p.I399L Missense 12/15 - 1
7-80302156-T-A c.1196T>A p.I399N Missense 12/15 - 1
7-80302156-T-C c.1196T>C p.I399T Missense 12/15 - 1
7-80302156-T-G c.1196T>G p.I399S Missense 12/15 - 1
7-80302155-A-AT c.1197dup p.Q400Sfs*18 SpliceDonorInsertion 12/15 - 1
7-80302157-T-TA c.1197_1198insA p.Q400Tfs*18 SpliceDonorInsertion 12/15 - 1
7-80302157-TTCA-T c.1197_1199del p.Q400del SpliceDonorDeletion 12/15 - 1
7-80302157-T-TG c.1197_1198insG p.Q400Afs*18 SpliceDonorInsertion 12/15 - 1
7-80302157-T-TC c.1198dup p.Q400Pfs*18 SpliceDonorInsertion 12/15 - 1
7-80302159-A-G c.1199A>G p.Q400R Missense 12/15 - 1
7-80302160-G-A c.1199+1G>A - IntronicSNV - 12/14 1
7-80302159-AGT-A c.1199+2_1199+3del - IntronicDeletion - 12/14 1
7-80302161-T-A c.1199+2T>A - IntronicSNV - 12/14 1
7-80302161-T-C c.1199+2T>C - IntronicSNV - 12/14 1
7-80302672-AGTATTAAAG-A c.1201_1209del p.V401_K403del InFrameDeletion 13/15 - 1
7-80302673-GTATT-G c.1202_1205del p.V401Efs*4 Frameshift 13/15 - 4
7-80302673-GT-G c.1202del p.V401Dfs*2 Frameshift 13/15 - 1
7-80302673-T-A c.1202T>A p.V401E Missense 13/15 - 1
7-80302673-T-C c.1202T>C p.V401A Missense 13/15 - 1
7-80302673-T-G c.1202T>G p.V401G Missense 13/15 - 1
7-80302674-A-C c.1203A>C p.V401= Synonymous 13/15 - 1
7-80302676-T-C c.1205T>C p.L402S Missense 13/15 - 1
7-80302678-A-T c.1207A>T p.K403* Nonsense 13/15 - 1
7-80302676-TA-T c.1208del p.K403Rfs*3 Frameshift 13/15 - 1
7-80302680-G-C c.1209G>C p.K403N Missense 13/15 - 3
7-80302680-G-GT c.1209_1210insT p.N404* Nonsense 13/15 - 1
7-80302680-G-T c.1209G>T p.K403N Missense 13/15 - 2
7-80302683-T-A c.1212T>A p.N404K Missense 13/15 - 1
7-80302684-C-G c.1213C>G p.L405V Missense 13/15 - 2
7-80302684-CTG-TTT c.1213_1215delinsTTT p.L405F Missense 13/15 - 1
7-80302684-CT-TA c.1213_1214delinsTA p.L405* Nonsense 13/15 - 1
7-80302686-G-A c.1215G>A p.L405= Synonymous 13/15 - 3
7-80302687-A-T c.1216A>T p.K406* Nonsense 13/15 - 1
7-80302691-G-A c.1220G>A p.R407K Missense 13/15 - 1
7-80302690-AG-A c.1221del p.N408Tfs*27 Frameshift 13/15 - 1
7-80302696-TAT-AAG c.1225_1227delinsAAG p.Y409K Missense 13/15 - 1
7-80302697-ATATTGTGCCTAT-A c.1228_1239del p.I410_I413del InFrameDeletion 13/15 - 5
7-80302701-T-A c.1230T>A p.I410= Synonymous 13/15 - 1
7-80302702-G-A c.1231G>A p.V411M Missense 13/15 - 1
7-80302703-T-G c.1232T>G p.V411G Missense 13/15 - 1
7-80302705-C-G c.1234C>G p.P412A Missense 13/15 - 1
7-80302705-C-T c.1234C>T p.P412S Missense 13/15 - 1
7-80302707-T-A c.1236T>A p.P412= Synonymous 13/15 - 1
7-80302707-T-C c.1236T>C p.P412= Synonymous 13/15 - 2
7-80302707-T-G c.1236T>G p.P412= Synonymous 13/15 - 1
7-80302707-T-TA c.1237dup p.I413Nfs*5 Frameshift 13/15 - 1
7-80302708-A-C c.1237A>C p.I413L Missense 13/15 - 8
7-80302708-TATTC-T c.1237_1240del p.I413Ffs*21 Frameshift 13/15 - 1
7-80302709-T-C c.1238T>C p.I413T Missense 13/15 - 2
7-80302709-T-G c.1238T>G p.I413S Missense 13/15 - 1
7-80302708-ATTC-A c.1240_1242del p.L414del InFrameDeletion 13/15 - 1
7-80302711-C-A c.1240C>A p.L414I Missense 13/15 - 2
7-80302711-C-CAA c.1240_1241insAA p.L414Qfs*22 Frameshift 13/15 - 1
7-80302712-T-G c.1241T>G p.L414R Missense 13/15 - 1
7-80302714-T-A c.1243T>A p.W415R Missense 13/15 - 1
7-80302715-G-A c.1244G>A p.W415* Nonsense 13/15 - 1
7-80302715-GG-TT c.1244_1245delinsTT p.W415F Missense 13/15 - 1
7-80302716-G-A c.1245G>A p.W415* Nonsense 13/15 - 1
7-80302717-C-G c.1246C>G p.L416V Missense 13/15 - 1
7-80302720-AAT-CAA c.1249_1251delinsCAA p.N417Q Missense 13/15 - 1
7-80302720-AAT-TAA c.1249_1251delinsTAA p.N417* Nonsense 13/15 - 1
7-80302720-A-C c.1249A>C p.N417H Missense 13/15 - 1
7-80302719-TA-T c.1250del p.N417Mfs*18 Frameshift 13/15 - 1
7-80302721-A-G c.1250A>G p.N417S Missense 13/15 - 2
7-80302721-A-T c.1250A>T p.N417I Missense 13/15 - 1
7-80302722-T-G c.1251T>G p.N417K Missense 13/15 - 1
7-80302723-G-C c.1252G>C p.E418Q Missense 13/15 - 1
7-80302723-G-T c.1252G>T p.E418* Nonsense 13/15 - 1
7-80302725-G-C c.1254G>C p.E418D Missense 13/15 - 2
7-80302725-G-T c.1254G>T p.E418D Missense 13/15 - 2
7-80302726-G-A c.1254+1G>A - IntronicSNV - 13/14 3
7-80302726-G-C c.1254+1G>C - IntronicSNV - 13/14 1
7-80303300-C-A c.1256C>A p.T419N Missense 14/15 - 1
7-80303300-C-T c.1256C>T p.T419I Missense 14/15 - 1
7-80303302-G-A c.1258G>A p.G420R Missense 14/15 - 1
7-80303303-G-C c.1259G>C p.G420A Missense 14/15 - 1
7-80303305-A-G c.1261A>G p.T421A Missense 14/15 - 2
7-80303306-C-T c.1262C>T p.T421I Missense 14/15 - 1
7-80303309-T-C c.1265T>C p.I422T Missense 14/15 - 1
7-80303309-T-G c.1265T>G p.I422S Missense 14/15 - 1
7-80303311-GGT-TGG c.1267_1269delinsTGG p.G423W Missense 14/15 - 1
7-80303313-T-C c.1269T>C p.G423= Synonymous 14/15 - 1
7-80303315-A-G c.1271A>G p.D424G Missense 14/15 - 1
7-80303321-A-G c.1277A>G p.K426R Missense 14/15 - 1
7-80303323-G-A c.1279G>A p.A427T Missense 14/15 - 2
7-80303323-G-T c.1279G>T p.A427S Missense 14/15 - 1
7-80303324-C-A c.1280C>A p.A427E Missense 14/15 - 1
7-80303324-C-T c.1280C>T p.A427V Missense 14/15 - 1
7-80303327-A-C c.1283A>C p.N428T Missense 14/15 - 1
7-80303327-A-G c.1283A>G p.N428S Missense 14/15 - 1
7-80303328-C-A c.1284C>A p.N428K Missense 14/15 - 2
7-80303328-C-G c.1284C>G p.N428K Missense 14/15 - 1
7-80303334-C-A c.1290C>A p.F430L Missense 14/15 - 1
7-80303335-A-G c.1291A>G p.R431G Missense 14/15 - 1
7-80303335-AGA-TGT c.1291_1293delinsTGT p.R431C Missense 14/15 - 1
7-80303335-A-T c.1291A>T p.R431* Nonsense 14/15 - 1
7-80303336-AG-A c.1292del p.R431Kfs*4 Frameshift 14/15 - 1
7-80303338-A-C c.1294A>C p.S432R Missense 14/15 - 1
7-80303336-GAAGTC-G c.1297_1301del p.Q433Nfs*119 Frameshift 14/15 - 1
7-80303341-C-T c.1297C>T p.Q433* Nonsense 14/15 - 1
7-80303342-A-C c.1298A>C p.Q433P Missense 14/15 - 1
7-80303341-CAAGT-C c.1300_1303del p.V434Lfs*4 Frameshift 14/15 - 1
7-80303344-G-A c.1300G>A p.V434I Missense 14/15 - 1
7-80303348-C-G c.1304C>G p.T435S Missense 14/15 - 1
7-80303349-T-A c.1305T>A p.T435= Synonymous 14/15 - 1
7-80303349-T-C c.1305T>C p.T435= Synonymous 14/15 - 1
7-80303349-T-G c.1305T>G p.T435= Synonymous 14/15 - 1
7-80303350-G-A c.1306G>A p.G436R Missense 14/15 - 1
7-80303349-T-TG c.1307dup p.I438Nfs*116 Frameshift 14/15 - 1
7-80303351-G-A c.1307G>A p.G436E Missense 14/15 - 1
7-80303351-G-C c.1307G>C p.G436A Missense 14/15 - 1
7-80303356-A-G c.1312A>G p.I438V Missense 14/15 - 1
7-80303356-AT-CA c.1312_1313delinsCA p.I438Q Missense 14/15 - 1
7-80303356-AT-TA c.1312_1313delinsTA p.I438* Nonsense 14/15 - 1
7-80303363-T-A c.1319T>A p.L440H Missense 14/15 - 1
7-80303363-T-C c.1319T>C p.L440P Missense 14/15 - 1
7-80303365-CT-GC c.1321_1322delinsGC p.L441A Missense 14/15 - 1
7-80303370-C-A c.1326C>A p.G442= Synonymous 14/15 - 2
7-80303370-C-G c.1326C>G p.G442= Synonymous 14/15 - 2
7-80303370-C-T c.1326C>T p.G442= Synonymous 14/15 - 2
7-80303373-G-A c.1329G>A p.L443= Synonymous 14/15 - 4
7-80303375-T-C c.1331T>C p.I444T Missense 14/15 - 1
7-80303375-T-G c.1331T>G p.I444R Missense 14/15 - 1
7-80303377-G-A c.1333G>A p.E445K Missense 14/15 - 1
7-80303377-G-T c.1333G>T p.E445* Nonsense 14/15 - 2
7-80303386-TT-GC c.1342_1343delinsGC p.L448A Missense 14/15 - 1
7-80303387-TACTC-T c.1345_1348del p.L449Vfs*5 Frameshift 14/15 - 1
7-80303391-C-T c.1347C>T p.L449= Synonymous 14/15 - 1
7-80303392-A-T c.1348A>T p.S450C Missense 14/15 - 1
7-80303392-CAG-C c.1348_1349del p.S450Cfs*103 Frameshift 14/15 - 1
7-80303393-G-A c.1349G>A p.S450N Missense 14/15 - 2
7-80303398-G-A c.1354G>A p.G452S Missense 14/15 - 2
7-80303398-G-C c.1354G>C p.G452R Missense 14/15 - 1
7-80303399-G-A c.1355G>A p.G452D Missense 14/15 - 1
7-80303399-G-C c.1355G>C p.G452A Missense 14/15 - 3
7-80303400-T-A c.1356T>A p.G452= Synonymous 14/15 - 1
7-80303400-T-C c.1356T>C p.G452= Synonymous 14/15 - 1
7-80303400-T-G c.1356T>G p.G452= Synonymous 14/15 - 1
7-80303404-G-A c.1360G>A p.V454M Missense 14/15 - 1
7-80303404-G-T c.1360G>T p.V454L Missense 14/15 - 2
7-80303404-GTG-ATC c.1360_1362delinsATC p.V454I Missense 14/15 - 2
7-80303406-G-T c.1362G>T p.V454= Synonymous 14/15 - 1
7-80303406-G-GA c.1363dup p.M455Nfs*99 Frameshift 14/15 - 1
7-80303407-GAT-G c.1363_1364del p.M455Vfs*98 Frameshift 14/15 - 1
7-80303408-T-A c.1364T>A p.M455K Missense 14/15 - 2
7-80303413-G-A c.1369G>A p.V457I Missense 14/15 - 1
7-80303414-T-C c.1370T>C p.V457A Missense 14/15 - 1
7-80303418-T-A c.1374T>A p.A458= Synonymous 14/15 - 3
7-80303418-T-C c.1374T>C p.A458= Synonymous 14/15 - 4
7-80303418-T-G c.1374T>G p.A458= Synonymous 14/15 - 4
7-80303419-T-G c.1375T>G p.F459V Missense 14/15 - 2
7-80303425-A-T c.1381A>T p.I461F Missense 14/15 - 2
7-80303426-T-G c.1382T>G p.I461S Missense 14/15 - 1
7-80303429-C-A c.1385C>A p.S462* Nonsense 14/15 - 1
7-80303429-CA-AT c.1385_1386delinsAT p.S462Y Missense 14/15 - 1
7-80303430-A-C c.1386A>C p.S462= Synonymous 14/15 - 1
7-80303432-A-G c.1388A>G p.Y463C Missense 14/15 - 1
7-80303432-A-T c.1388A>T p.Y463F Missense 14/15 - 4
7-80303433-T-G c.1389T>G p.Y463* Nonsense 14/15 - 1
7-80303434-T-A c.1390T>A p.C464S Missense 14/15 - 3
7-80303434-T-C c.1390T>C p.C464R Missense 14/15 - 1
7-80303434-TG-GC c.1390_1391delinsGC p.C464A Missense 14/15 - 1
7-80303435-G-C c.1391G>C p.C464S Missense 14/15 - 3
7-80303436-T-A c.1392T>A p.C464* Nonsense 14/15 - 1
7-80303436-T-C c.1392T>C p.C464= Synonymous 14/15 - 1
7-80303438-C-T c.1394C>T p.A465V Missense 14/15 - 1
7-80303442-C-A c.1398C>A p.C466* Nonsense 14/15 - 1
7-80303443-A-G c.1399A>G p.R467G Missense 14/15 - 1
7-80303444-G-A c.1400G>A p.R467K Missense 14/15 - 1
7-80303446-T-C c.1402T>C p.S468P Missense 14/15 - 1
7-80303446-T-G c.1402T>G p.S468A Missense 14/15 - 1
7-80303447-C-A c.1403C>A p.S468* Nonsense 14/15 - 1
7-80303447-C-G c.1403C>G p.S468W Missense 14/15 - 1
7-80303447-C-T c.1403C>T p.S468L Missense 14/15 - 6
7-80303448-G-A c.1404G>A p.S468= Synonymous 14/15 - 5
7-80303448-G-C c.1404G>C p.S468= Synonymous 14/15 - 1
7-80303448-G-T c.1404G>T p.S468= Synonymous 14/15 - 1
7-80303449-AA-GC c.1405_1406delinsGC p.K469A Missense 14/15 - 2
7-80303449-A-G c.1405A>G p.K469E Missense 14/15 - 2
7-80303450-A-C c.1406A>C p.K469T Missense 14/15 - 1
7-80303451-A-C c.1407A>C p.K469N Missense 14/15 - 1
7-80303451-A-T c.1407A>T p.K469N Missense 14/15 - 1
7-80303452-A-G c.1408A>G p.T470A Missense 14/15 - 1
7-80303453-C-T c.1409C>T p.T470I Missense 14/15 - 2
7-80303455-A-T c.1411A>T p.I471L Missense 14/15 - 2
7-80303457-A-G c.1413A>G p.I471M Missense 14/15 - 1
7-80303453-CAATAA-C c.1415_1419del p.K472Nfs*80 Multi:SpliceDonorDeletion,CdsStopDeletion 14/15 - 1
7-80303459-A-C c.1415A>C p.K472T Missense 14/15 - 1
7-80303458-AAAT-A c.1417_1419del p.*473delext*14 Multi:SpliceDonorDeletion,CdsStopDeletion 14/15 - 1
7-80303462-A-C c.1418A>C p.*473Sext*15 Missense 14/15 - 1
7-80303462-TAAG-T c.1418_*1del - Multi:SpliceDonorDeletion,CdsStopDeletion 14/15 14/14 1
7-80303464-G-A c.*1G>A - IntronicSNV - 14/14 1
7-80303465-T-A c.*2T>A - IntronicSNV - 14/14 1
7-80303460-ATAAG-A c.*4_*7del - IntronicDeletion - 14/14 2