PIK3CA

PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

Annotation transcript: NM_006218.4

6584 unique variant annotations were identified in 7518 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
3-178866327-C-T c.-141C>T - 5_prime_UTR_variant 1/21 - 3
3-178866330-C-T c.-138C>T - 5_prime_UTR_variant 1/21 - 1
3-178866408-C-T c.-77+17C>T - intron_variant - 1/20 29
3-178867621-T-C c.-77+1230T>C - intron_variant - 1/20 1
3-178873280-A-G c.-77+6889A>G - intron_variant - 1/20 1
3-178873867-C-T c.-77+7476C>T - intron_variant - 1/20 1
3-178874874-C-T c.-77+8483C>T - intron_variant - 1/20 7
3-178875136-A-C c.-77+8745A>C - intron_variant - 1/20 1
3-178875136-A-G c.-77+8745A>G - intron_variant - 1/20 1
3-178877856-C-G c.-77+11465C>G - intron_variant - 1/20 1
3-178877856-C-T c.-77+11465C>T - intron_variant - 1/20 1
3-178877977-G-A c.-77+11586G>A - intron_variant - 1/20 4
3-178879730-A-G c.-77+13339A>G - intron_variant - 1/20 1
3-178882422-A-G c.-77+16031A>G - intron_variant - 1/20 1
3-178883908-T-C c.-77+17517T>C - intron_variant - 1/20 1
3-178884337-C-T c.-77+17946C>T - intron_variant - 1/20 11
3-178886609-C-T c.-77+20218C>T - intron_variant - 1/20 3
3-178886709-C-T c.-77+20318C>T - intron_variant - 1/20 5
3-178887687-G-A c.-77+21296G>A - intron_variant - 1/20 3
3-178890650-A-G c.-77+24259A>G - intron_variant - 1/20 3
3-178891421-A-G c.-77+25030A>G - intron_variant - 1/20 1
3-178891811-C-T c.-76-24727C>T - IntronicSNV - 1/20 1
3-178893029-A-G c.-76-23509A>G - IntronicSNV - 1/20 16
3-178897674-C-A c.-76-18864C>A - IntronicSNV - 1/20 18
3-178900193-T-C c.-76-16345T>C - IntronicSNV - 1/20 9
3-178900596-G-A c.-76-15942G>A - IntronicSNV - 1/20 1
3-178902001-C-G c.-76-14537C>G - IntronicSNV - 1/20 20
3-178903264-C-T c.-76-13274C>T - IntronicSNV - 1/20 11
3-178908580-G-A c.-76-7958G>A - IntronicSNV - 1/20 1
3-178912661-G-A c.-76-3877G>A - IntronicSNV - 1/20 1
3-178912823-G-A c.-76-3715G>A - IntronicSNV - 1/20 1
3-178913006-C-A c.-76-3532C>A - IntronicSNV - 1/20 4
3-178913165-T-G c.-76-3373T>G - IntronicSNV - 1/20 1
3-178914879-T-C c.-76-1659T>C - IntronicSNV - 1/20 1
3-178916519-T-C c.-76-19T>C - IntronicSNV - 1/20 2
3-178916591-A-G c.-23A>G - 5-UTRSNV 2/21 - 1
3-178916612-C-T c.-2C>T - 5-UTRSNV 2/21 - 1
3-178916614-A-G c.1A>G p.M1? Missense 2/21 - 8
3-178916614-A-T c.1A>T p.M1? Missense 2/21 - 1
3-178916615-T-G c.2T>G p.M1? Missense 2/21 - 1
3-178916616-G-A c.3G>A p.M1? Missense 2/21 - 2
3-178916616-G-C c.3G>C p.M1? Missense 2/21 - 1
3-178916616-G-T c.3G>T p.M1? Missense 2/21 - 2
3-178916617-C-A c.4C>A p.P2T Missense 2/21 - 2
3-178916618-C-A c.5C>A p.P2H Missense 2/21 - 5
3-178916619-T-A c.6T>A p.P2= Synonymous 2/21 - 21
3-178916619-T-C c.6T>C p.P2= Synonymous 2/21 - 21
3-178916619-T-G c.6T>G p.P2= Synonymous 2/21 - 21
3-178916620-C-A c.7C>A p.P3T Missense 2/21 - 2
3-178916620-C-T c.7C>T p.P3S Missense 2/21 - 2
3-178916621-C-A c.8C>A p.P3Q Missense 2/21 - 2
3-178916621-C-T c.8C>T p.P3L Missense 2/21 - 1
3-178916622-A-C c.9A>C p.P3= Synonymous 2/21 - 15
3-178916622-A-G c.9A>G p.P3= Synonymous 2/21 - 17
3-178916622-A-T c.9A>T p.P3= Synonymous 2/21 - 16
3-178916621-CACGACCATCATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAATCCTAGTAG-C c.10_68del p.R4Mfs*16 InFrameDeletion 2/21 - 1
3-178916623-C-A c.10C>A p.R4= Synonymous 2/21 - 8
3-178916623-C-G c.10C>G p.R4G Missense 2/21 - 1
3-178916623-CG-AA c.10_11delinsAA p.R4K Missense 2/21 - 3
3-178916623-CGA-AGC c.10_12delinsAGC p.R4S Missense 2/21 - 1
3-178916623-C-T c.10C>T p.R4* Nonsense 2/21 - 8
3-178916625-A-C c.12A>C p.R4= Synonymous 2/21 - 6
3-178916625-A-G c.12A>G p.R4= Synonymous 2/21 - 6
3-178916625-A-T c.12A>T p.R4= Synonymous 2/21 - 6
3-178916624-G-A c.11G>A p.R4Q Missense 2/21 - 5
3-178916624-GA-AT c.11_12delinsAT p.R4H Missense 2/21 - 2
3-178916624-G-T c.11G>T p.R4L Missense 2/21 - 2
3-178916626-C-A c.13C>A p.P5T Missense 2/21 - 1
3-178916626-C-T c.13C>T p.P5S Missense 2/21 - 1
3-178916627-C-A c.14C>A p.P5Q Missense 2/21 - 1
3-178916627-C-T c.14C>T p.P5L Missense 2/21 - 3
3-178916628-A-C c.15A>C p.P5= Synonymous 2/21 - 6
3-178916628-A-G c.15A>G p.P5= Synonymous 2/21 - 6
3-178916628-A-T c.15A>T p.P5= Synonymous 2/21 - 6
3-178916629-TC-AA c.16_17delinsAA p.S6K Missense 2/21 - 1
3-178916629-TC-AG c.16_17delinsAG p.S6R Missense 2/21 - 1
3-178916630-C-A c.17C>A p.S6* Nonsense 2/21 - 2
3-178916630-C-G c.17C>G p.S6* Nonsense 2/21 - 1
3-178916630-C-T c.17C>T p.S6L Missense 2/21 - 2
3-178916631-A-C c.18A>C p.S6= Synonymous 2/21 - 3
3-178916631-A-G c.18A>G p.S6= Synonymous 2/21 - 3
3-178916631-A-T c.18A>T p.S6= Synonymous 2/21 - 4
3-178916626-CCAT-C c.19_21del p.S7del InFrameDeletion 2/21 - 1
3-178916632-TCA-AAC c.19_21delinsAAC p.S7N Missense 2/21 - 1
3-178916633-C-A c.20C>A p.S7* Nonsense 2/21 - 1
3-178916633-CA-TT c.20_21delinsTT p.S7F Missense 2/21 - 1
3-178916633-C-G c.20C>G p.S7* Nonsense 2/21 - 1
3-178916633-C-T c.20C>T p.S7L Missense 2/21 - 4
3-178916634-A-T c.21A>T p.S7= Synonymous 2/21 - 1
3-178916632-TCAGGTGAACTGTGGGGCATCCACTTGATGCCCC-T c.22_54del p.G8_P18del InFrameDeletion 2/21 - 1
3-178916635-G-C c.22G>C p.G8R Missense 2/21 - 2
3-178916636-G-A c.23G>A p.G8D Missense 2/21 - 8
3-178916636-G-T c.23G>T p.G8V Missense 2/21 - 1
3-178916635-GGTGAACTGTGGGGCATCCACTTGATGCCCCCAA-G c.24_56del p.E9_R19del InFrameDeletion 2/21 - 2
3-178916638-G-C c.25G>C p.E9Q Missense 2/21 - 1
3-178916638-G-T c.25G>T p.E9* Nonsense 2/21 - 1
3-178916638-TGAACTGTGGGGCATCCACTTGATGCCCCCAAGA-T c.25_57del p.E9_R19del InFrameDeletion 2/21 - 4
3-178916639-A-G c.26A>G p.E9G Missense 2/21 - 5
3-178916639-GAACTGTGGGGCATCCACTTGATGCCCC-G c.26_52del p.E9_P18delinsA MultiAAMissense 2/21 - 1
3-178916638-GA-G c.27del p.E9Dfs*7 Frameshift 2/21 - 1
3-178916640-A-G c.27A>G p.E9= Synonymous 2/21 - 1
3-178916641-ACTG-A c.28_30del p.L10del InFrameDeletion 2/21 - 1
3-178916641-C-A c.28C>A p.L10M Missense 2/21 - 2
3-178916641-C-T c.28C>T p.L10= Synonymous 2/21 - 2
3-178916641-CT-GC c.28_29delinsGC p.L10A Missense 2/21 - 11
3-178916640-ACTGTGGGGCATCCACTTGATG-A c.29_49del p.L10_M16del InFrameDeletion 2/21 - 4
3-178916640-ACTGTGGGGCATCCACTTGATGCCC-A c.29_52del p.L10_P17del InFrameDeletion 2/21 - 1
3-178916642-T-A c.29T>A p.L10Q Missense 2/21 - 1
3-178916642-T-C c.29T>C p.L10P Missense 2/21 - 8
3-178916642-T-G c.29T>G p.L10R Missense 2/21 - 1
3-178916643-G-A c.30G>A p.L10= Synonymous 2/21 - 1
3-178916643-G-C c.30G>C p.L10= Synonymous 2/21 - 1
3-178916643-G-T c.30G>T p.L10= Synonymous 2/21 - 1
3-178916643-TGTGGGGCATCCACTTGATGCCCCC-T c.30_53del p.W11_P18del InFrameDeletion 2/21 - 1
3-178916641-CTG-C c.31_32del p.W11Gfs*28 Frameshift 2/21 - 1
3-178916644-GTGGGGCATCCACTTGATGCCCCCA-G c.31_54del p.W11_P18del InFrameDeletion 2/21 - 2
3-178916644-T-A c.31T>A p.W11R Missense 2/21 - 3
3-178916644-T-C c.31T>C p.W11R Missense 2/21 - 4
3-178916644-T-G c.31T>G p.W11G Missense 2/21 - 1
3-178916644-TG-GC c.31_32delinsGC p.W11A Missense 2/21 - 2
3-178916645-G-A c.32G>A p.W11* Nonsense 2/21 - 3
3-178916645-G-C c.32G>C p.W11S Missense 2/21 - 8
3-178916645-G-T c.32G>T p.W11L Missense 2/21 - 10
3-178916646-G-A c.33G>A p.W11* Nonsense 2/21 - 2
3-178916646-G-C c.33G>C p.W11C Missense 2/21 - 5
3-178916646-G-T c.33G>T p.W11C Missense 2/21 - 5
3-178916647-G-A c.34G>A p.G12S Missense 2/21 - 90
3-178916647-G-C c.34G>C p.G12R Missense 2/21 - 54
3-178916647-GG-AC c.34_35delinsAC p.G12T Missense 2/21 - 7
3-178916647-GGC-AAG c.34_36delinsAAG p.G12K Missense 2/21 - 1
3-178916647-GG-CC c.34_35inv p.G12P Missense 2/21 - 2
3-178916647-GG-CT c.34_35delinsCT p.G12L Missense 2/21 - 3
3-178916647-GGC-TGA c.34_36delinsTGA p.G12* Nonsense 2/21 - 6
3-178916647-GGC-TGG c.34_36delinsTGG p.G12W Missense 2/21 - 1
3-178916647-GG-TA c.34_35delinsTA p.G12Y Missense 2/21 - 1
3-178916647-GG-TT c.34_35delinsTT p.G12F Missense 2/21 - 9
3-178916647-G-T c.34G>T p.G12C Missense 2/21 - 156
3-178916644-TG-T c.35del p.G12Afs*4 Frameshift 2/21 - 2
3-178916648-G-A c.35G>A p.G12D Missense 2/21 - 614
3-178916648-G-C c.35G>C p.G12A Missense 2/21 - 75
3-178916648-GC-AG c.35_36delinsAG p.G12E Missense 2/21 - 2
3-178916648-G-T c.35G>T p.G12V Missense 2/21 - 470
3-178916649-C-A c.36C>A p.G12= Synonymous 2/21 - 4
3-178916649-C-G c.36C>G p.G12= Synonymous 2/21 - 3
3-178916649-C-T c.36C>T p.G12= Synonymous 2/21 - 3
3-178916650-A-C c.37A>C p.I13L Missense 2/21 - 7
3-178916650-A-G c.37A>G p.I13V Missense 2/21 - 1
3-178916651-T-C c.38T>C p.I13T Missense 2/21 - 6
3-178916651-T-G c.38T>G p.I13S Missense 2/21 - 2
3-178916652-C-A c.39C>A p.I13= Synonymous 2/21 - 1
3-178916652-C-T c.39C>T p.I13= Synonymous 2/21 - 3
3-178916653-C-A c.40C>A p.H14N Missense 2/21 - 7
3-178916653-CA-AC c.40_41delinsAC p.H14T Missense 2/21 - 1
3-178916653-CAC-AAG c.40_42delinsAAG p.H14K Missense 2/21 - 2
3-178916653-CAC-TAA c.40_42delinsTAA p.H14* Nonsense 2/21 - 1
3-178916653-CACTT-AAGTG c.40_44inv p.H14_L15delinsKW MultiAAMissense 2/21 - 1
3-178916653-CA-GC c.40_41delinsGC p.H14A Missense 2/21 - 1
3-178916653-CA-TT c.40_41delinsTT p.H14F Missense 2/21 - 1
3-178916653-C-T c.40C>T p.H14Y Missense 2/21 - 2
3-178916649-CATCCACTTGATGCCCCCAAGA-C c.41_61del p.H14_I20del InFrameDeletion 2/21 - 1
3-178916654-A-G c.41A>G p.H14R Missense 2/21 - 2
3-178916654-A-T c.41A>T p.H14L Missense 2/21 - 1
3-178916655-C-A c.42C>A p.H14Q Missense 2/21 - 1
3-178916655-C-G c.42C>G p.H14Q Missense 2/21 - 2
3-178916655-CTTGATGCCCCCAAGAATCCTAG-TCCAA c.42_64delinsTCCAA p.L15_V22delinsPI MultiAAMissense 2/21 - 1
3-178916656-T-A c.43T>A p.L15M Missense 2/21 - 1
3-178916656-T-G c.43T>G p.L15V Missense 2/21 - 6
3-178916656-TT-AAGTG c.43_44delinsAAGTG p.L15delinsKW MultiAAMissense 2/21 - 1
3-178916656-TT-CC c.43_44delinsCC p.L15P Missense 2/21 - 2
3-178916656-TTG-AAC c.43_45delinsAAC p.L15N Missense 2/21 - 1
3-178916657-T-C c.44T>C p.L15S Missense 2/21 - 1
3-178916657-T-G c.44T>G p.L15W Missense 2/21 - 2
3-178916658-G-C c.45G>C p.L15F Missense 2/21 - 2
3-178916658-G-GCCTATC c.45_46insCCTATC p.L15_M16insPI InFrameInsertion 2/21 - 1
3-178916658-G-GT c.45_46insT p.M16Yfs*24 Frameshift 2/21 - 1
3-178916658-G-T c.45G>T p.L15F Missense 2/21 - 2
3-178916659-A-C c.46A>C p.M16L Missense 2/21 - 1
3-178916659-A-G c.46A>G p.M16V Missense 2/21 - 2
3-178916659-A-T c.46A>T p.M16L Missense 2/21 - 1
3-178916659-AT-GC c.46_47delinsGC p.M16A Missense 2/21 - 2
3-178916659-ATG-CAT c.46_48inv p.M16H Missense 2/21 - 1
3-178916659-ATG-TAT c.46_48delinsTAT p.M16Y Missense 2/21 - 1
3-178916659-ATG-TGT c.46_48delinsTGT p.M16C Missense 2/21 - 1
3-178916660-T-A c.47T>A p.M16K Missense 2/21 - 1
3-178916660-T-C c.47T>C p.M16T Missense 2/21 - 3
3-178916661-G-A c.48G>A p.M16I Missense 2/21 - 2
3-178916661-G-C c.48G>C p.M16I Missense 2/21 - 1
3-178916661-G-T c.48G>T p.M16I Missense 2/21 - 2
3-178916662-C-A c.49C>A p.P17T Missense 2/21 - 3
3-178916662-C-G c.49C>G p.P17A Missense 2/21 - 2
3-178916662-C-T c.49C>T p.P17S Missense 2/21 - 13
3-178916663-C-A c.50C>A p.P17H Missense 2/21 - 2
3-178916663-C-G c.50C>G p.P17R Missense 2/21 - 2
3-178916663-C-T c.50C>T p.P17L Missense 2/21 - 7
3-178916661-GCCC-G c.51_53del p.P18del InFrameDeletion 2/21 - 3
3-178916664-C-A c.51C>A p.P17= Synonymous 2/21 - 1
3-178916665-C-A c.52C>A p.P18T Missense 2/21 - 5
3-178916665-CC-AA c.52_53delinsAA p.P18K Missense 2/21 - 1
3-178916665-CCA-AAC c.52_54delinsAAC p.P18N Missense 2/21 - 1
3-178916665-CC-AT c.52_53delinsAT p.P18I Missense 2/21 - 1
3-178916665-CCA-TAT c.52_54delinsTAT p.P18Y Missense 2/21 - 1
3-178916665-CCCA-C c.52_54del p.P18del InFrameDeletion 2/21 - 2
3-178916665-C-GGTG c.52delinsGGTG p.P18delinsGA MultiAAMissense 2/21 - 1
3-178916665-C-T c.52C>T p.P18S Missense 2/21 - 4
3-178916661-G-GC c.53dup p.R19Kfs*21 Frameshift 2/21 - 1
3-178916666-C-A c.53C>A p.P18Q Missense 2/21 - 4
3-178916666-C-T c.53C>T p.P18L Missense 2/21 - 6
3-178916667-A-T c.54A>T p.P18= Synonymous 2/21 - 1
3-178916666-CA-C c.55del p.R19Efs*3 Frameshift 2/21 - 1
3-178916668-AGA-CAT c.55_57delinsCAT p.R19H Missense 2/21 - 1
3-178916668-AGA-TGT c.55_57delinsTGT p.R19C Missense 2/21 - 1
3-178916668-AG-CC c.55_56delinsCC p.R19P Missense 2/21 - 1
3-178916668-AG-CT c.55_56inv p.R19L Missense 2/21 - 1
3-178916668-AG-GC c.55_56delinsGC p.R19A Missense 2/21 - 1
3-178916668-A-T c.55A>T p.R19* Nonsense 2/21 - 2
3-178916666-CAAG-C c.56_58del p.R19del InFrameDeletion 2/21 - 14
3-178916669-G-A c.56G>A p.R19K Missense 2/21 - 5
3-178916669-G-T c.56G>T p.R19I Missense 2/21 - 2
3-178916670-A-G c.57A>G p.R19= Synonymous 2/21 - 1
3-178916669-GA-G c.58del p.I20Sfs*2 Frameshift 2/21 - 1
3-178916671-A-G c.58A>G p.I20V Missense 2/21 - 2
3-178916671-A-T c.58A>T p.I20F Missense 2/21 - 1
3-178916672-AT-A c.59del p.I20Tfs*2 Frameshift 2/21 - 1
3-178916672-T-A c.59T>A p.I20N Missense 2/21 - 1
3-178916672-T-G c.59T>G p.I20S Missense 2/21 - 8
3-178916673-C-A c.60C>A p.I20= Synonymous 2/21 - 1
3-178916673-C-G c.60C>G p.I20M Missense 2/21 - 5
3-178916674-C-A c.61C>A p.L21I Missense 2/21 - 2
3-178916674-C-G c.61C>G p.L21V Missense 2/21 - 1
3-178916674-C-T c.61C>T p.L21= Synonymous 2/21 - 1
3-178916674-CTA-GAC c.61_63delinsGAC p.L21D Missense 2/21 - 1
3-178916674-CT-GA c.61_62delinsGA p.L21E Missense 2/21 - 1
3-178916674-CT-GC c.61_62delinsGC p.L21A Missense 2/21 - 1
3-178916677-G-A c.64G>A p.V22I Missense 2/21 - 4
3-178916677-GT-AA c.64_65delinsAA p.V22K Missense 2/21 - 1
3-178916677-GTA-ATG c.64_66delinsATG p.V22M Missense 2/21 - 1
3-178916678-T-C c.65T>C p.V22A Missense 2/21 - 2
3-178916679-A-AT c.66_67insT p.E23* Nonsense 2/21 - 1
3-178916679-A-C c.66A>C p.V22= Synonymous 2/21 - 1
3-178916679-A-G c.66A>G p.V22= Synonymous 2/21 - 1
3-178916679-A-T c.66A>T p.V22= Synonymous 2/21 - 1
3-178916680-G-A c.67G>A p.E23K Missense 2/21 - 7
3-178916680-GAA-AAC c.67_69delinsAAC p.E23N Missense 2/21 - 1
3-178916680-GA-AC c.67_68delinsAC p.E23T Missense 2/21 - 1
3-178916680-GAA-CAT c.67_69delinsCAT p.E23H Missense 2/21 - 2
3-178916680-GA-AG c.67_68delinsAG p.E23R Missense 2/21 - 1
3-178916680-GAA-TGT c.67_69delinsTGT p.E23C Missense 2/21 - 1
3-178916680-GA-CT c.67_68delinsCT p.E23L Missense 2/21 - 1
3-178916680-G-C c.67G>C p.E23Q Missense 2/21 - 2
3-178916680-G-T c.67G>T p.E23* Nonsense 2/21 - 1
3-178916681-GAA-G c.68_69del p.E23Vfs*16 Frameshift 2/21 - 1
3-178916681-A-AAAG c.69_70insAGA p.E23_C24insR InFrameInsertion 2/21 - 1
3-178916682-A-C c.69A>C p.E23D Missense 2/21 - 1
3-178916682-A-G c.69A>G p.E23= Synonymous 2/21 - 2
3-178916682-A-T c.69A>T p.E23D Missense 2/21 - 1
3-178916683-T-A c.70T>A p.C24S Missense 2/21 - 1
3-178916683-T-C c.70T>C p.C24R Missense 2/21 - 1
3-178916683-T-G c.70T>G p.C24G Missense 2/21 - 1
3-178916683-TG-CA c.70_71inv p.C24H Missense 2/21 - 4
3-178916683-TG-GC c.70_71delinsGC p.C24A Missense 2/21 - 2
3-178916683-TGT-GAG c.70_72delinsGAG p.C24E Missense 2/21 - 2
3-178916684-G-A c.71G>A p.C24Y Missense 2/21 - 1
3-178916684-G-C c.71G>C p.C24S Missense 2/21 - 2
3-178916684-G-T c.71G>T p.C24F Missense 2/21 - 4
3-178916685-T-C c.72T>C p.C24= Synonymous 2/21 - 2
3-178916685-T-G c.72T>G p.C24W Missense 2/21 - 1
3-178916686-TT-AA c.73_74inv p.L25K Missense 2/21 - 1
3-178916686-TTTA-T c.73_75del p.L26del InFrameDeletion 2/21 - 1
3-178916687-T-C c.74T>C p.L25S Missense 2/21 - 1
3-178916689-C-A c.76C>A p.L26I Missense 2/21 - 1
3-178916689-C-G c.76C>G p.L26V Missense 2/21 - 1
3-178916689-C-T c.76C>T p.L26= Synonymous 2/21 - 2
3-178916691-A-C c.78A>C p.L26= Synonymous 2/21 - 1
3-178916691-A-G c.78A>G p.L26= Synonymous 2/21 - 1
3-178916691-A-T c.78A>T p.L26= Synonymous 2/21 - 1
3-178916692-C-A c.79C>A p.P27T Missense 2/21 - 5
3-178916692-CC-AA c.79_80delinsAA p.P27K Missense 2/21 - 5
3-178916692-CC-AT c.79_80delinsAT p.P27I Missense 2/21 - 1
3-178916692-CCA-TTT c.79_81delinsTTT p.P27F Missense 2/21 - 1
3-178916692-CC-GA c.79_80delinsGA p.P27E Missense 2/21 - 1
3-178916692-CC-TA c.79_80delinsTA p.P27* Nonsense 2/21 - 2
3-178916692-C-T c.79C>T p.P27S Missense 2/21 - 1
3-178916693-C-A c.80C>A p.P27Q Missense 2/21 - 3
3-178916693-C-G c.80C>G p.P27R Missense 2/21 - 1
3-178916693-C-T c.80C>T p.P27L Missense 2/21 - 2
3-178916694-A-C c.81A>C p.P27= Synonymous 2/21 - 2
3-178916694-A-G c.81A>G p.P27= Synonymous 2/21 - 3
3-178916694-A-T c.81A>T p.P27= Synonymous 2/21 - 2
3-178916696-A-G c.83A>G p.N28S Missense 2/21 - 3
3-178916698-G-A c.85G>A p.G29R Missense 2/21 - 2
3-178916698-G-C c.85G>C p.G29R Missense 2/21 - 3
3-178916699-G-A c.86G>A p.G29E Missense 2/21 - 1
3-178916700-A-G c.87A>G p.G29= Synonymous 2/21 - 1
3-178916699-G-GAAA c.88_89insAAA p.G29_M30insK InFrameInsertion 2/21 - 1
3-178916701-A-G c.88A>G p.M30V Missense 2/21 - 2
3-178916701-AT-GC c.88_89delinsGC p.M30A Missense 2/21 - 1
3-178916702-T-A c.89T>A p.M30K Missense 2/21 - 1
3-178916702-T-C c.89T>C p.M30T Missense 2/21 - 1
3-178916703-G-A c.90G>A p.M30I Missense 2/21 - 3
3-178916703-G-C c.90G>C p.M30I Missense 2/21 - 2
3-178916703-G-T c.90G>T p.M30I Missense 2/21 - 2
3-178916704-A-C c.91A>C p.I31L Missense 2/21 - 1
3-178916704-A-G c.91A>G p.I31V Missense 2/21 - 3
3-178916704-A-T c.91A>T p.I31L Missense 2/21 - 2
3-178916706-A-G c.93A>G p.I31M Missense 2/21 - 10
3-178916707-G-A c.94G>A p.V32M Missense 2/21 - 2
3-178916707-G-C c.94G>C p.V32L Missense 2/21 - 1
3-178916707-G-T c.94G>T p.V32L Missense 2/21 - 4
3-178916707-GTG-ATC c.94_96delinsATC p.V32I Missense 2/21 - 1
3-178916708-T-A c.95T>A p.V32E Missense 2/21 - 1
3-178916708-T-C c.95T>C p.V32A Missense 2/21 - 4
3-178916708-T-G c.95T>G p.V32G Missense 2/21 - 1
3-178916709-G-A c.96G>A p.V32= Synonymous 2/21 - 1
3-178916710-AC-GA c.97_98delinsGA p.T33D Missense 2/21 - 3
3-178916710-ACT-GAG c.97_99delinsGAG p.T33E Missense 2/21 - 1
3-178916710-A-G c.97A>G p.T33A Missense 2/21 - 2
3-178916710-A-T c.97A>T p.T33S Missense 2/21 - 2
3-178916711-C-A c.98C>A p.T33N Missense 2/21 - 3
3-178916711-C-G c.98C>G p.T33S Missense 2/21 - 5
3-178916711-C-T c.98C>T p.T33I Missense 2/21 - 2
3-178916712-T-A c.99T>A p.T33= Synonymous 2/21 - 1
3-178916712-T-C c.99T>C p.T33= Synonymous 2/21 - 1
3-178916712-T-G c.99T>G p.T33= Synonymous 2/21 - 2
3-178916713-T-C c.100T>C p.L34= Synonymous 2/21 - 1
3-178916713-T-G c.100T>G p.L34V Missense 2/21 - 2
3-178916715-A-G c.102A>G p.L34= Synonymous 2/21 - 1
3-178916714-T-C c.101T>C p.L34S Missense 2/21 - 1
3-178916715-A-AT c.102_103insT p.E35* Nonsense 2/21 - 1
3-178916715-A-C c.102A>C p.L34F Missense 2/21 - 1
3-178916715-A-T c.102A>T p.L34F Missense 2/21 - 1
3-178916714-TAGA-T c.103_105del p.E35del InFrameDeletion 2/21 - 1
3-178916716-G-A c.103G>A p.E35K Missense 2/21 - 3
3-178916716-G-C c.103G>C p.E35Q Missense 2/21 - 3
3-178916717-A-C c.104A>C p.E35A Missense 2/21 - 2
3-178916718-A-C c.105A>C p.E35D Missense 2/21 - 1
3-178916718-A-G c.105A>G p.E35= Synonymous 2/21 - 1
3-178916718-A-T c.105A>T p.E35D Missense 2/21 - 1
3-178916719-T-A c.106T>A p.C36S Missense 2/21 - 3
3-178916719-T-C c.106T>C p.C36R Missense 2/21 - 2
3-178916719-TG-AC c.106_107delinsAC p.C36T Missense 2/21 - 1
3-178916719-TGC-GAG c.106_108delinsGAG p.C36E Missense 2/21 - 1
3-178916719-TG-GA c.106_107delinsGA p.C36D Missense 2/21 - 2
3-178916719-TG-GC c.106_107delinsGC p.C36A Missense 2/21 - 1
3-178916720-G-C c.107G>C p.C36S Missense 2/21 - 3
3-178916719-T-TG c.107dup p.C36Wfs*4 Frameshift 2/21 - 1
3-178916720-G-A c.107G>A p.C36Y Missense 2/21 - 3
3-178916720-G-T c.107G>T p.C36F Missense 2/21 - 1
3-178916721-C-A c.108C>A p.C36* Nonsense 2/21 - 1
3-178916721-C-T c.108C>T p.C36= Synonymous 2/21 - 2
3-178916722-C-A c.109C>A p.L37I Missense 2/21 - 1
3-178916722-C-G c.109C>G p.L37V Missense 2/21 - 3
3-178916722-C-T c.109C>T p.L37F Missense 2/21 - 9
3-178916722-CT-GC c.109_110delinsGC p.L37A Missense 2/21 - 2
3-178916723-T-A c.110T>A p.L37H Missense 2/21 - 1
3-178916723-T-C c.110T>C p.L37P Missense 2/21 - 2
3-178916724-C-A c.111C>A p.L37= Synonymous 2/21 - 1
3-178916724-C-G c.111C>G p.L37= Synonymous 2/21 - 1
3-178916724-C-T c.111C>T p.L37= Synonymous 2/21 - 2
3-178916725-C-A c.112C>A p.R38S Missense 2/21 - 27
3-178916725-C-G c.112C>G p.R38G Missense 2/21 - 13
3-178916725-CG-GA c.112_113delinsGA p.R38D Missense 2/21 - 2
3-178916725-CG-GC c.112_113delinsGC p.R38A Missense 2/21 - 14
3-178916725-CGT-AAG c.112_114delinsAAG p.R38K Missense 2/21 - 1
3-178916725-CGT-GAG c.112_114delinsGAG p.R38E Missense 2/21 - 1
3-178916725-CG-TT c.112_113delinsTT p.R38F Missense 2/21 - 1
3-178916725-CGT-TGA c.112_114delinsTGA p.R38* Nonsense 2/21 - 2
3-178916725-C-T c.112C>T p.R38C Missense 2/21 - 98
3-178916726-G-A c.113G>A p.R38H Missense 2/21 - 108
3-178916726-G-T c.113G>T p.R38L Missense 2/21 - 13
3-178916726-GT-AA c.113_114delinsAA p.R38Q Missense 2/21 - 1
3-178916727-T-A c.114T>A p.R38= Synonymous 2/21 - 1
3-178916727-T-C c.114T>C p.R38= Synonymous 2/21 - 2
3-178916727-T-G c.114T>G p.R38= Synonymous 2/21 - 1
3-178916728-G-A c.115G>A p.E39K Missense 2/21 - 52
3-178916728-GAG-TGT c.115_117delinsTGT p.E39C Missense 2/21 - 1
3-178916728-GAG-TTT c.115_117delinsTTT p.E39F Missense 2/21 - 1
3-178916728-G-C c.115G>C p.E39Q Missense 2/21 - 3
3-178916728-G-T c.115G>T p.E39* Nonsense 2/21 - 5
3-178916729-A-C c.116A>C p.E39A Missense 2/21 - 2
3-178916729-A-G c.116A>G p.E39G Missense 2/21 - 7
3-178916729-A-T c.116A>T p.E39V Missense 2/21 - 5
3-178916730-G-C c.117G>C p.E39D Missense 2/21 - 1
3-178916730-G-T c.117G>T p.E39D Missense 2/21 - 3
3-178916731-G-A c.118G>A p.A40T Missense 2/21 - 3
3-178916731-G-C c.118G>C p.A40P Missense 2/21 - 3
3-178916731-GC-AA c.118_119delinsAA p.A40N Missense 2/21 - 2
3-178916731-GC-CG c.118_119delinsCG p.A40R Missense 2/21 - 4
3-178916731-GC-CT c.118_119delinsCT p.A40L Missense 2/21 - 2
3-178916731-GC-TA c.118_119delinsTA p.A40Y Missense 2/21 - 1
3-178916731-GCT-AAG c.118_120delinsAAG p.A40K Missense 2/21 - 4
3-178916731-GCT-ATG c.118_120delinsATG p.A40M Missense 2/21 - 2
3-178916731-GCT-CAA c.118_120delinsCAA p.A40Q Missense 2/21 - 1
3-178916731-GC-TG c.118_119delinsTG p.A40C Missense 2/21 - 8
3-178916731-GC-TT c.118_119delinsTT p.A40F Missense 2/21 - 1
3-178916731-GCT-TAA c.118_120delinsTAA p.A40* Nonsense 2/21 - 1
3-178916731-G-T c.118G>T p.A40S Missense 2/21 - 6
3-178916732-C-A c.119C>A p.A40D Missense 2/21 - 5
3-178916732-C-G c.119C>G p.A40G Missense 2/21 - 4
3-178916732-CT-AG c.119_120inv p.A40E Missense 2/21 - 7
3-178916733-T-A c.120T>A p.A40= Synonymous 2/21 - 3
3-178916733-T-C c.120T>C p.A40= Synonymous 2/21 - 4
3-178916733-T-G c.120T>G p.A40= Synonymous 2/21 - 3
3-178916734-A-C c.121A>C p.T41P Missense 2/21 - 2
3-178916734-A-G c.121A>G p.T41A Missense 2/21 - 21
3-178916734-A-T c.121A>T p.T41S Missense 2/21 - 3
3-178916735-C-A c.122C>A p.T41K Missense 2/21 - 3
3-178916735-CA-AC c.122_123delinsAC p.T41N Missense 2/21 - 1
3-178916735-C-G c.122C>G p.T41R Missense 2/21 - 1
3-178916735-C-T c.122C>T p.T41I Missense 2/21 - 9
3-178916737-TT-AG c.124_125delinsAG p.L42R Missense 2/21 - 1
3-178916736-AT-A c.125del p.L42* Frameshift 2/21 - 1
3-178916738-T-A c.125T>A p.L42* Nonsense 2/21 - 1
3-178916738-T-C c.125T>C p.L42S Missense 2/21 - 1
3-178916738-T-G c.125T>G p.L42* Nonsense 2/21 - 1
3-178916739-AA-CG c.126_127delinsCG p.L42_I43delinsFV MultiAAMissense 2/21 - 1
3-178916740-A-G c.127A>G p.I43V Missense 2/21 - 3
3-178916740-A-TTTG c.127delinsTTTG p.I43delinsFV MultiAAMissense 2/21 - 1
3-178916742-A-G c.129A>G p.I43M Missense 2/21 - 1
3-178916743-AC-CT c.130_131delinsCT p.T44L Missense 2/21 - 1
3-178916743-AC-GA c.130_131delinsGA p.T44D Missense 2/21 - 1
3-178916743-A-G c.130A>G p.T44A Missense 2/21 - 3
3-178916744-C-A c.131C>A p.T44N Missense 2/21 - 4
3-178916744-C-T c.131C>T p.T44I Missense 2/21 - 4
3-178916745-C-A c.132C>A p.T44= Synonymous 2/21 - 3
3-178916745-C-G c.132C>G p.T44= Synonymous 2/21 - 1
3-178916745-C-T c.132C>T p.T44= Synonymous 2/21 - 1
3-178916746-A-G c.133A>G p.I45V Missense 2/21 - 1
3-178916747-T-C c.134T>C p.I45T Missense 2/21 - 2
3-178916748-A-AT c.135_136insT p.K46* Nonsense 2/21 - 2
3-178916749-AA-CT c.136_137delinsCT p.K46L Missense 2/21 - 1
3-178916749-A-C c.136A>C p.K46Q Missense 2/21 - 1
3-178916749-A-G c.136A>G p.K46E Missense 2/21 - 1
3-178916749-A-T c.136A>T p.K46* Nonsense 2/21 - 3
3-178916750-A-G c.137A>G p.K46R Missense 2/21 - 4
3-178916751-AG-A c.138del p.K46Nfs*26 Frameshift 2/21 - 1
3-178916751-G-A c.138G>A p.K46= Synonymous 2/21 - 3
3-178916752-C-A c.139C>A p.H47N Missense 2/21 - 1
3-178916752-CA-GC c.139_140delinsGC p.H47A Missense 2/21 - 1
3-178916752-C-T c.139C>T p.H47Y Missense 2/21 - 8
3-178916753-A-C c.140A>C p.H47P Missense 2/21 - 1
3-178916753-A-G c.140A>G p.H47R Missense 2/21 - 12
3-178916753-A-T c.140A>T p.H47L Missense 2/21 - 2
3-178916754-T-A c.141T>A p.H47Q Missense 2/21 - 4
3-178916754-T-G c.141T>G p.H47Q Missense 2/21 - 3
3-178916755-G-A c.142G>A p.E48K Missense 2/21 - 5
3-178916755-GAA-TGT c.142_144delinsTGT p.E48C Missense 2/21 - 1
3-178916755-G-C c.142G>C p.E48Q Missense 2/21 - 1
3-178916755-G-T c.142G>T p.E48* Nonsense 2/21 - 2
3-178916755-TGAA-T c.142_144del p.E48del InFrameDeletion 2/21 - 1
3-178916756-A-G c.143A>G p.E48G Missense 2/21 - 3
3-178916757-A-C c.144A>C p.E48D Missense 2/21 - 2
3-178916757-A-G c.144A>G p.E48= Synonymous 2/21 - 2
3-178916757-A-T c.144A>T p.E48D Missense 2/21 - 2
3-178916758-C-A c.145C>A p.L49I Missense 2/21 - 4
3-178916758-C-T c.145C>T p.L49= Synonymous 2/21 - 1
3-178916759-T-C c.146T>C p.L49P Missense 2/21 - 1
3-178916761-T-A c.148T>A p.F50I Missense 2/21 - 1
3-178916761-T-C c.148T>C p.F50L Missense 2/21 - 4
3-178916761-T-G c.148T>G p.F50V Missense 2/21 - 1
3-178916763-T-G c.150T>G p.F50L Missense 2/21 - 3
3-178916762-T-G c.149T>G p.F50C Missense 2/21 - 1
3-178916760-A-AT c.150dup p.K51* Nonsense 2/21 - 1
3-178916763-T-A c.150T>A p.F50L Missense 2/21 - 6
3-178916764-AA-GC c.151_152delinsGC p.K51A Missense 2/21 - 1
3-178916764-A-T c.151A>T p.K51* Nonsense 2/21 - 1
3-178916765-A-C c.152A>C p.K51T Missense 2/21 - 1
3-178916765-A-G c.152A>G p.K51R Missense 2/21 - 4
3-178916766-A-C c.153A>C p.K51N Missense 2/21 - 1
3-178916766-A-T c.153A>T p.K51N Missense 2/21 - 2
3-178916767-G-A c.154G>A p.E52K Missense 2/21 - 5
3-178916767-GAA-TGT c.154_156delinsTGT p.E52C Missense 2/21 - 1
3-178916767-G-T c.154G>T p.E52* Nonsense 2/21 - 3
3-178916764-AAAG-A c.155_157del p.E52del InFrameDeletion 2/21 - 1
3-178916769-A-C c.156A>C p.E52D Missense 2/21 - 5
3-178916769-A-G c.156A>G p.E52= Synonymous 2/21 - 1
3-178916769-A-T c.156A>T p.E52D Missense 2/21 - 5
3-178916770-G-A c.157G>A p.A53T Missense 2/21 - 84
3-178916770-GCA-TGT c.157_159delinsTGT p.A53C Missense 2/21 - 4
3-178916770-GCA-TTT c.157_159delinsTTT p.A53F Missense 2/21 - 4
3-178916770-G-T c.157G>T p.A53S Missense 2/21 - 1
3-178916771-C-A c.158C>A p.A53E Missense 2/21 - 4
3-178916771-CA-AC c.158_159delinsAC p.A53D Missense 2/21 - 3
3-178916771-C-T c.158C>T p.A53V Missense 2/21 - 1
3-178916772-A-C c.159A>C p.A53= Synonymous 2/21 - 5
3-178916772-A-G c.159A>G p.A53= Synonymous 2/21 - 5
3-178916772-A-T c.159A>T p.A53= Synonymous 2/21 - 6
3-178916773-A-G c.160A>G p.R54G Missense 2/21 - 1
3-178916773-AGA-TGT c.160_162delinsTGT p.R54C Missense 2/21 - 1
3-178916773-AG-GC c.160_161delinsGC p.R54A Missense 2/21 - 1
3-178916773-A-T c.160A>T p.R54* Nonsense 2/21 - 4
3-178916774-G-A c.161G>A p.R54K Missense 2/21 - 4
3-178916773-A-C c.160A>C p.R54= Synonymous 2/21 - 1
3-178916775-A-G c.162A>G p.R54= Synonymous 2/21 - 1
3-178916776-A-C c.163A>C p.K55Q Missense 2/21 - 1
3-178916777-A-C c.164A>C p.K55T Missense 2/21 - 1
3-178916777-A-G c.164A>G p.K55R Missense 2/21 - 2
3-178916777-A-T c.164A>T p.K55I Missense 2/21 - 1
3-178916779-AT-A c.166del p.Y56Tfs*16 Frameshift 2/21 - 1
3-178916779-T-C c.166T>C p.Y56H Missense 2/21 - 1
3-178916780-A-C c.167A>C p.Y56S Missense 2/21 - 4
3-178916780-A-T c.167A>T p.Y56F Missense 2/21 - 1
3-178916781-C-A c.168C>A p.Y56* Nonsense 2/21 - 2
3-178916781-C-G c.168C>G p.Y56* Nonsense 2/21 - 1
3-178916781-C-T c.168C>T p.Y56= Synonymous 2/21 - 1
3-178916782-C-A c.169C>A p.P57T Missense 2/21 - 2
3-178916782-C-T c.169C>T p.P57S Missense 2/21 - 5
3-178916783-C-A c.170C>A p.P57H Missense 2/21 - 2
3-178916783-C-T c.170C>T p.P57L Missense 2/21 - 5
3-178916784-C-A c.171C>A p.P57= Synonymous 2/21 - 1
3-178916784-CCCTCCATCAACTTCTTCA-C c.171_188del p.L58_Q63del InFrameDeletion 2/21 - 1
3-178916784-C-G c.171C>G p.P57= Synonymous 2/21 - 2
3-178916784-C-T c.171C>T p.P57= Synonymous 2/21 - 2
3-178916785-C-A c.172C>A p.L58I Missense 2/21 - 1
3-178916785-C-T c.172C>T p.L58F Missense 2/21 - 4
3-178916785-CT-AG c.172_173inv p.L58S Missense 2/21 - 1
3-178916786-T-C c.173T>C p.L58P Missense 2/21 - 2
3-178916787-C-A c.174C>A p.L58= Synonymous 2/21 - 1
3-178916788-C-A c.175C>A p.H59N Missense 2/21 - 2
3-178916788-CA-GC c.175_176delinsGC p.H59A Missense 2/21 - 1
3-178916788-C-T c.175C>T p.H59Y Missense 2/21 - 4
3-178916789-A-C c.176A>C p.H59P Missense 2/21 - 4
3-178916789-A-T c.176A>T p.H59L Missense 2/21 - 2
3-178916790-T-A c.177T>A p.H59Q Missense 2/21 - 2
3-178916790-T-C c.177T>C p.H59= Synonymous 2/21 - 1
3-178916790-T-G c.177T>G p.H59Q Missense 2/21 - 1
3-178916791-C-A c.178C>A p.Q60K Missense 2/21 - 18
3-178916791-CAA-GAC c.178_180delinsGAC p.Q60D Missense 2/21 - 1
3-178916791-C-G c.178C>G p.Q60E Missense 2/21 - 1
3-178916791-C-T c.178C>T p.Q60* Nonsense 2/21 - 6
3-178916792-A-C c.179A>C p.Q60P Missense 2/21 - 3
3-178916792-A-G c.179A>G p.Q60R Missense 2/21 - 2
3-178916792-A-T c.179A>T p.Q60L Missense 2/21 - 3
3-178916793-A-C c.180A>C p.Q60H Missense 2/21 - 5
3-178916793-A-G c.180A>G p.Q60= Synonymous 2/21 - 4
3-178916793-A-T c.180A>T p.Q60H Missense 2/21 - 5
3-178916794-C-A c.181C>A p.L61I Missense 2/21 - 6
3-178916794-C-G c.181C>G p.L61V Missense 2/21 - 3
3-178916794-C-T c.181C>T p.L61F Missense 2/21 - 3
3-178916794-CTT-TAA c.181_183delinsTAA p.L61* Nonsense 2/21 - 1
3-178916796-T-A c.183T>A p.L61= Synonymous 2/21 - 2
3-178916796-T-C c.183T>C p.L61= Synonymous 2/21 - 2
3-178916796-T-G c.183T>G p.L61= Synonymous 2/21 - 1
3-178916797-C-T c.184C>T p.L62F Missense 2/21 - 3
3-178916797-CT-AG c.184_185inv p.L62S Missense 2/21 - 1
3-178916797-CT-GC c.184_185delinsGC p.L62A Missense 2/21 - 1
3-178916798-T-C c.185T>C p.L62P Missense 2/21 - 1
3-178916798-T-G c.185T>G p.L62R Missense 2/21 - 5
3-178916800-C-A c.187C>A p.Q63K Missense 2/21 - 2
3-178916800-C-G c.187C>G p.Q63E Missense 2/21 - 4
3-178916800-C-T c.187C>T p.Q63* Nonsense 2/21 - 3
3-178916801-A-G c.188A>G p.Q63R Missense 2/21 - 5
3-178916801-A-T c.188A>T p.Q63L Missense 2/21 - 35
3-178916801-CAAGA-C c.188_191del p.Q63Lfs*8 Frameshift 2/21 - 1
3-178916802-A-C c.189A>C p.Q63H Missense 2/21 - 2
3-178916802-A-T c.189A>T p.Q63H Missense 2/21 - 2
3-178916803-G-A c.190G>A p.D64N Missense 2/21 - 5
3-178916803-GA-TT c.190_191delinsTT p.D64F Missense 2/21 - 2
3-178916803-G-T c.190G>T p.D64Y Missense 2/21 - 2
3-178916804-A-G c.191A>G p.D64G Missense 2/21 - 1
3-178916804-A-T c.191A>T p.D64V Missense 2/21 - 1
3-178916805-T-A c.192T>A p.D64E Missense 2/21 - 2
3-178916805-T-G c.192T>G p.D64E Missense 2/21 - 2
3-178916806-G-A c.193G>A p.E65K Missense 2/21 - 10
3-178916806-GAA-TGT c.193_195delinsTGT p.E65C Missense 2/21 - 1
3-178916806-G-C c.193G>C p.E65Q Missense 2/21 - 2
3-178916806-G-T c.193G>T p.E65* Nonsense 2/21 - 1
3-178916806-TG-T c.193del p.E65Nfs*7 Frameshift 2/21 - 2
3-178916807-A-C c.194A>C p.E65A Missense 2/21 - 3
3-178916807-A-G c.194A>G p.E65G Missense 2/21 - 1
3-178916807-A-T c.194A>T p.E65V Missense 2/21 - 1
3-178916808-A-C c.195A>C p.E65D Missense 2/21 - 2
3-178916808-A-T c.195A>T p.E65D Missense 2/21 - 2
3-178916809-T-A c.196T>A p.S66T Missense 2/21 - 3
3-178916809-TC-CT c.196_197delinsCT p.S66L Missense 2/21 - 1
3-178916809-TC-GT c.196_197delinsGT p.S66V Missense 2/21 - 1
3-178916809-T-G c.196T>G p.S66A Missense 2/21 - 2
3-178916810-C-A c.197C>A p.S66Y Missense 2/21 - 2
3-178916810-C-G c.197C>G p.S66C Missense 2/21 - 4
3-178916810-C-T c.197C>T p.S66F Missense 2/21 - 2
3-178916811-T-C c.198T>C p.S66= Synonymous 2/21 - 1
3-178916812-TC-CT c.199_200delinsCT p.S67L Missense 2/21 - 1
3-178916812-TC-GG c.199_200delinsGG p.S67G Missense 2/21 - 1
3-178916812-TC-GT c.199_200delinsGT p.S67V Missense 2/21 - 1
3-178916812-T-G c.199T>G p.S67A Missense 2/21 - 1
3-178916808-ATCT-A c.200_202del p.S67del InFrameDeletion 2/21 - 1
3-178916813-C-T c.200C>T p.S67F Missense 2/21 - 2
3-178916813-TC-T c.200del p.S67Ffs*5 Frameshift 2/21 - 1
3-178916814-T-A c.201T>A p.S67= Synonymous 2/21 - 2
3-178916814-T-C c.201T>C p.S67= Synonymous 2/21 - 4
3-178916814-T-G c.201T>G p.S67= Synonymous 2/21 - 4
3-178916815-T-C c.202T>C p.Y68H Missense 2/21 - 5
3-178916815-T-G c.202T>G p.Y68D Missense 2/21 - 1
3-178916816-A-G c.203A>G p.Y68C Missense 2/21 - 1
3-178916816-A-T c.203A>T p.Y68F Missense 2/21 - 1
3-178916817-C-A c.204C>A p.Y68* Nonsense 2/21 - 3
3-178916817-C-G c.204C>G p.Y68* Nonsense 2/21 - 2
3-178916818-A-C c.205A>C p.I69L Missense 2/21 - 1
3-178916818-A-G c.205A>G p.I69V Missense 2/21 - 1
3-178916818-A-T c.205A>T p.I69F Missense 2/21 - 1
3-178916819-T-A c.206T>A p.I69N Missense 2/21 - 9
3-178916819-T-C c.206T>C p.I69T Missense 2/21 - 1
3-178916819-T-G c.206T>G p.I69S Missense 2/21 - 2
3-178916820-T-A c.207T>A p.I69= Synonymous 2/21 - 1
3-178916820-T-C c.207T>C p.I69= Synonymous 2/21 - 1
3-178916820-T-TGC c.207_208insGC p.F70Afs*3 Frameshift 2/21 - 1
3-178916821-T-A c.208T>A p.F70I Missense 2/21 - 1
3-178916821-T-C c.208T>C p.F70L Missense 2/21 - 4
3-178916821-T-G c.208T>G p.F70V Missense 2/21 - 1
3-178916821-TT-GC c.208_209delinsGC p.F70A Missense 2/21 - 1
3-178916823-C-A c.210C>A p.F70L Missense 2/21 - 4
3-178916823-C-G c.210C>G p.F70L Missense 2/21 - 3
3-178916818-A-AT c.209dup p.V71Rfs*14 Frameshift 2/21 - 1
3-178916818-AT-A c.209del p.F70Sfs*2 Frameshift 2/21 - 2
3-178916823-C-T c.210C>T p.F70= Synonymous 2/21 - 14
3-178916824-G-A c.211G>A p.V71I Missense 2/21 - 16
3-178916824-G-C c.211G>C p.V71L Missense 2/21 - 1
3-178916824-G-T c.211G>T p.V71L Missense 2/21 - 4
3-178916825-T-C c.212T>C p.V71A Missense 2/21 - 1
3-178916826-A-C c.213A>C p.V71= Synonymous 2/21 - 1
3-178916826-A-G c.213A>G p.V71= Synonymous 2/21 - 2
3-178916826-A-T c.213A>T p.V71= Synonymous 2/21 - 1
3-178916827-A-G c.214A>G p.S72G Missense 2/21 - 4
3-178916827-AG-CA c.214_215delinsCA p.S72H Missense 2/21 - 1
3-178916827-AG-GA c.214_215delinsGA p.S72D Missense 2/21 - 2
3-178916827-AG-GC c.214_215delinsGC p.S72A Missense 2/21 - 12
3-178916827-AGT-GAG c.214_216delinsGAG p.S72E Missense 2/21 - 2
3-178916827-AGT-TGA c.214_216delinsTGA p.S72* Nonsense 2/21 - 2
3-178916827-A-T c.214A>T p.S72C Missense 2/21 - 1
3-178916828-G-A c.215G>A p.S72N Missense 2/21 - 3
3-178916828-G-C c.215G>C p.S72T Missense 2/21 - 1
3-178916828-G-T c.215G>T p.S72I Missense 2/21 - 1
3-178916828-GT-AG c.215_216delinsAG p.S72K Missense 2/21 - 1
3-178916829-T-G c.216T>G p.S72R Missense 2/21 - 2
3-178916830-G-A c.217G>A p.V73I Missense 2/21 - 2
3-178916830-GTT-ATG c.217_219delinsATG p.V73M Missense 2/21 - 1
3-178916831-T-C c.218T>C p.V73A Missense 2/21 - 1
3-178916832-T-A c.219T>A p.V73= Synonymous 2/21 - 1
3-178916832-T-C c.219T>C p.V73= Synonymous 2/21 - 2
3-178916832-T-G c.219T>G p.V73= Synonymous 2/21 - 1
3-178916833-AC-GA c.220_221delinsGA p.T74D Missense 2/21 - 7
3-178916833-A-G c.220A>G p.T74A Missense 2/21 - 2
3-178916833-TA-T c.220del p.T74Lfs*26 Frameshift 2/21 - 1
3-178916834-C-A c.221C>A p.T74N Missense 2/21 - 2
3-178916834-C-G c.221C>G p.T74S Missense 2/21 - 1
3-178916834-C-T c.221C>T p.T74I Missense 2/21 - 1
3-178916835-T-C c.222T>C p.T74= Synonymous 2/21 - 2
3-178916836-C-A c.223C>A p.Q75K Missense 2/21 - 3
3-178916836-CA-TC c.223_224delinsTC p.Q75S Missense 2/21 - 1
3-178916836-C-G c.223C>G p.Q75E Missense 2/21 - 41
3-178916836-C-T c.223C>T p.Q75* Nonsense 2/21 - 4
3-178916836-TCA-T c.223_224del p.Q75Rfs*9 Frameshift 2/21 - 1
3-178916837-A-C c.224A>C p.Q75P Missense 2/21 - 1
3-178916837-A-T c.224A>T p.Q75L Missense 2/21 - 4
3-178916836-CA-C c.225del p.E76Kfs*24 Frameshift 2/21 - 1
3-178916838-A-AT c.225_226insT p.E76* Nonsense 2/21 - 1
3-178916838-A-C c.225A>C p.Q75H Missense 2/21 - 1
3-178916838-A-G c.225A>G p.Q75= Synonymous 2/21 - 3
3-178916838-A-T c.225A>T p.Q75H Missense 2/21 - 1
3-178916839-G-A c.226G>A p.E76K Missense 2/21 - 11
3-178916839-G-C c.226G>C p.E76Q Missense 2/21 - 1
3-178916839-G-T c.226G>T p.E76* Nonsense 2/21 - 1
3-178916840-A-G c.227A>G p.E76G Missense 2/21 - 1
3-178916841-A-C c.228A>C p.E76D Missense 2/21 - 3
3-178916841-A-G c.228A>G p.E76= Synonymous 2/21 - 2
3-178916841-A-T c.228A>T p.E76D Missense 2/21 - 2
3-178916842-G-C c.229G>C p.A77P Missense 2/21 - 3
3-178916842-GCA-TGG c.229_231delinsTGG p.A77W Missense 2/21 - 1
3-178916842-GCA-TGT c.229_231delinsTGT p.A77C Missense 2/21 - 3
3-178916842-GCA-TTT c.229_231delinsTTT p.A77F Missense 2/21 - 1
3-178916842-GC-CA c.229_230delinsCA p.A77Q Missense 2/21 - 1
3-178916842-GC-TA c.229_230delinsTA p.A77* Nonsense 2/21 - 2
3-178916842-G-T c.229G>T p.A77S Missense 2/21 - 2
3-178916843-C-A c.230C>A p.A77E Missense 2/21 - 5
3-178916843-CA-AC c.230_231delinsAC p.A77D Missense 2/21 - 1
3-178916843-C-G c.230C>G p.A77G Missense 2/21 - 4
3-178916843-C-T c.230C>T p.A77V Missense 2/21 - 1
3-178916844-A-C c.231A>C p.A77= Synonymous 2/21 - 6
3-178916844-A-G c.231A>G p.A77= Synonymous 2/21 - 6
3-178916844-A-T c.231A>T p.A77= Synonymous 2/21 - 7
3-178916845-G-A c.232G>A p.E78K Missense 2/21 - 9
3-178916845-GAA-TGT c.232_234delinsTGT p.E78C Missense 2/21 - 1
3-178916845-GAA-TTT c.232_234delinsTTT p.E78F Missense 2/21 - 2
3-178916845-GA-CC c.232_233delinsCC p.E78P Missense 2/21 - 1
3-178916845-G-C c.232G>C p.E78Q Missense 2/21 - 1
3-178916845-G-T c.232G>T p.E78* Nonsense 2/21 - 3
3-178916846-A-G c.233A>G p.E78G Missense 2/21 - 1
3-178916846-A-T c.233A>T p.E78V Missense 2/21 - 1
3-178916847-A-C c.234A>C p.E78D Missense 2/21 - 1
3-178916847-A-G c.234A>G p.E78= Synonymous 2/21 - 1
3-178916847-A-T c.234A>T p.E78D Missense 2/21 - 1
3-178916845-G-GA c.235dup p.R79Kfs*6 Frameshift 2/21 - 1
3-178916848-A-C c.235A>C p.R79= Synonymous 2/21 - 2
3-178916848-AG-CA c.235_236delinsCA p.R79Q Missense 2/21 - 1
3-178916848-AG-CC c.235_236delinsCC p.R79P Missense 2/21 - 1
3-178916848-AG-GC c.235_236delinsGC p.R79A Missense 2/21 - 2
3-178916848-AGG-CAT c.235_237delinsCAT p.R79H Missense 2/21 - 2
3-178916848-AGG-GAC c.235_237delinsGAC p.R79D Missense 2/21 - 1
3-178916848-AGG-TGT c.235_237delinsTGT p.R79C Missense 2/21 - 1
3-178916848-A-T c.235A>T p.R79W Missense 2/21 - 1
3-178916849-G-A c.236G>A p.R79K Missense 2/21 - 1
3-178916849-G-T c.236G>T p.R79M Missense 2/21 - 3
3-178916850-G-T c.237G>T p.R79S Missense 2/21 - 1
3-178916851-G-A c.238G>A p.E80K Missense 2/21 - 18
3-178916851-GA-AG c.238_239delinsAG p.E80R Missense 2/21 - 1
3-178916851-GA-AT c.238_239delinsAT p.E80I Missense 2/21 - 7
3-178916851-GAA-TGT c.238_240delinsTGT p.E80C Missense 2/21 - 1
3-178916851-GA-TC c.238_239inv p.E80S Missense 2/21 - 1
3-178916851-G-C c.238G>C p.E80Q Missense 2/21 - 1
3-178916851-G-T c.238G>T p.E80* Nonsense 2/21 - 2
3-178916852-A-C c.239A>C p.E80A Missense 2/21 - 1
3-178916852-A-G c.239A>G p.E80G Missense 2/21 - 1
3-178916852-GAAGAATTTTTTGATGAAACAAGACGACTTTGTGACCTTCGGCTTTTTCAACCCTTTT-G c.239_295del p.E80_L99delinsV MultiAAMissense 2/21 - 1
3-178916853-A-C c.240A>C p.E80D Missense 2/21 - 1
3-178916853-A-G c.240A>G p.E80= Synonymous 2/21 - 3
3-178916850-GGAA-G c.241_243del p.E81del InFrameDeletion 2/21 - 1
3-178916854-G-A c.241G>A p.E81K Missense 2/21 - 170
3-178916854-GA-AT c.241_242delinsAT p.E81I Missense 2/21 - 1
3-178916854-GAA-TTT c.241_243delinsTTT p.E81F Missense 2/21 - 1
3-178916854-GA-CT c.241_242delinsCT p.E81L Missense 2/21 - 1
3-178916854-G-C c.241G>C p.E81Q Missense 2/21 - 2
3-178916854-G-T c.241G>T p.E81* Nonsense 2/21 - 7
3-178916855-A-C c.242A>C p.E81A Missense 2/21 - 6
3-178916855-A-G c.242A>G p.E81G Missense 2/21 - 4
3-178916855-A-T c.242A>T p.E81V Missense 2/21 - 1
3-178916854-GA-G c.243del p.E81Dfs*19 Frameshift 2/21 - 1
3-178916856-A-C c.243A>C p.E81D Missense 2/21 - 3
3-178916856-A-T c.243A>T p.E81D Missense 2/21 - 3
3-178916857-T-A c.244T>A p.F82I Missense 2/21 - 1
3-178916857-T-C c.244T>C p.F82L Missense 2/21 - 2
3-178916857-TT-GC c.244_245delinsGC p.F82A Missense 2/21 - 1
3-178916859-T-A c.246T>A p.F82L Missense 2/21 - 1
3-178916859-T-G c.246T>G p.F82L Missense 2/21 - 1
3-178916858-T-G c.245T>G p.F82C Missense 2/21 - 2
3-178916858-TT-GG c.245_246delinsGG p.F82W Missense 2/21 - 1
3-178916860-T-A c.247T>A p.F83I Missense 2/21 - 3
3-178916860-T-C c.247T>C p.F83L Missense 2/21 - 6
3-178916860-T-G c.247T>G p.F83V Missense 2/21 - 1
3-178916862-T-A c.249T>A p.F83L Missense 2/21 - 6
3-178916862-T-G c.249T>G p.F83L Missense 2/21 - 6
3-178916861-T-A c.248T>A p.F83Y Missense 2/21 - 1
3-178916861-T-C c.248T>C p.F83S Missense 2/21 - 15
3-178916861-T-G c.248T>G p.F83C Missense 2/21 - 5
3-178916856-AT-A c.249del p.F83Lfs*17 Frameshift 2/21 - 1
3-178916862-T-C c.249T>C p.F83= Synonymous 2/21 - 2
3-178916863-G-A c.250G>A p.D84N Missense 2/21 - 4
3-178916863-GA-CG c.250_251delinsCG p.D84R Missense 2/21 - 2
3-178916863-GA-TG c.250_251delinsTG p.D84C Missense 2/21 - 1
3-178916863-GA-TT c.250_251delinsTT p.D84F Missense 2/21 - 1
3-178916863-GAT-TAA c.250_252delinsTAA p.D84* Nonsense 2/21 - 2
3-178916863-G-C c.250G>C p.D84H Missense 2/21 - 4
3-178916863-G-T c.250G>T p.D84Y Missense 2/21 - 3
3-178916864-A-G c.251A>G p.D84G Missense 2/21 - 3
3-178916864-A-T c.251A>T p.D84V Missense 2/21 - 1
3-178916866-G-A c.253G>A p.E85K Missense 2/21 - 6
3-178916866-G-C c.253G>C p.E85Q Missense 2/21 - 1
3-178916866-G-T c.253G>T p.E85* Nonsense 2/21 - 1
3-178916867-A-G c.254A>G p.E85G Missense 2/21 - 1
3-178916869-A-C c.256A>C p.T86P Missense 2/21 - 1
3-178916869-AC-GA c.256_257delinsGA p.T86E Missense 2/21 - 2
3-178916869-A-G c.256A>G p.T86A Missense 2/21 - 2
3-178916869-A-T c.256A>T p.T86S Missense 2/21 - 3
3-178916867-AAAC-A c.257_259del p.T86del InFrameDeletion 2/21 - 1
3-178916870-C-A c.257C>A p.T86K Missense 2/21 - 1
3-178916870-CA-AC c.257_258delinsAC p.T86N Missense 2/21 - 1
3-178916870-CA-TG c.257_258inv p.T86M Missense 2/21 - 1
3-178916870-C-T c.257C>T p.T86I Missense 2/21 - 3
3-178916871-A-C c.258A>C p.T86= Synonymous 2/21 - 1
3-178916871-A-G c.258A>G p.T86= Synonymous 2/21 - 1
3-178916871-A-T c.258A>T p.T86= Synonymous 2/21 - 2
3-178916872-AGA-CAT c.259_261delinsCAT p.R87H Missense 2/21 - 1
3-178916872-AGA-TGT c.259_261delinsTGT p.R87C Missense 2/21 - 1
3-178916872-A-T c.259A>T p.R87* Nonsense 2/21 - 1
3-178916873-G-C c.260G>C p.R87T Missense 2/21 - 3
3-178916873-G-T c.260G>T p.R87I Missense 2/21 - 1
3-178916874-A-C c.261A>C p.R87S Missense 2/21 - 1
3-178916874-A-G c.261A>G p.R87= Synonymous 2/21 - 2
3-178916874-A-T c.261A>T p.R87S Missense 2/21 - 2
3-178916875-C-A c.262C>A p.R88= Synonymous 2/21 - 1
3-178916875-C-G c.262C>G p.R88G Missense 2/21 - 2
3-178916875-CG-AA c.262_263delinsAA p.R88K Missense 2/21 - 1
3-178916875-CGA-GAC c.262_264delinsGAC p.R88D Missense 2/21 - 1
3-178916875-CGA-TGT c.262_264delinsTGT p.R88C Missense 2/21 - 1
3-178916875-C-T c.262C>T p.R88* Nonsense 2/21 - 6
3-178916872-AGAC-A c.263_265del p.R88del InFrameDeletion 2/21 - 1
3-178916876-CG-C c.263del p.R88Hfs*12 Frameshift 2/21 - 1
3-178916876-G-A c.263G>A p.R88Q Missense 2/21 - 408
3-178916876-GA-AT c.263_264delinsAT p.R88H Missense 2/21 - 1
3-178916876-GA-TC c.263_264inv p.R88L Missense 2/21 - 1
3-178916876-G-C c.263G>C p.R88P Missense 2/21 - 2
3-178916876-G-T c.263G>T p.R88L Missense 2/21 - 8
3-178916878-C-A c.265C>A p.L89I Missense 2/21 - 2
3-178916878-C-T c.265C>T p.L89F Missense 2/21 - 5
3-178916878-CTT-TAA c.265_267delinsTAA p.L89* Nonsense 2/21 - 1
3-178916878-CTT-TGG c.265_267delinsTGG p.L89W Missense 2/21 - 1
3-178916879-T-A c.266T>A p.L89H Missense 2/21 - 1
3-178916879-T-C c.266T>C p.L89P Missense 2/21 - 1
3-178916879-T-G c.266T>G p.L89R Missense 2/21 - 3
3-178916879-TT-AA c.266_267inv p.L89Q Missense 2/21 - 2
3-178916880-T-A c.267T>A p.L89= Synonymous 2/21 - 1
3-178916880-T-C c.267T>C p.L89= Synonymous 2/21 - 1
3-178916880-T-G c.267T>G p.L89= Synonymous 2/21 - 1
3-178916878-CT-C c.268del p.C90Vfs*10 Frameshift 2/21 - 1
3-178916881-T-C c.268T>C p.C90R Missense 2/21 - 8
3-178916881-T-G c.268T>G p.C90G Missense 2/21 - 8
3-178916881-TG-GA c.268_269delinsGA p.C90D Missense 2/21 - 1
3-178916881-TG-GC c.268_269delinsGC p.C90A Missense 2/21 - 1
3-178916881-T-TG c.269dup p.C90Wfs*2 Frameshift 2/21 - 1
3-178916882-G-A c.269G>A p.C90Y Missense 2/21 - 9
3-178916882-G-T c.269G>T p.C90F Missense 2/21 - 2
3-178916883-T-A c.270T>A p.C90* Nonsense 2/21 - 2
3-178916883-T-C c.270T>C p.C90= Synonymous 2/21 - 3
3-178916883-T-G c.270T>G p.C90W Missense 2/21 - 1
3-178916884-G-A c.271G>A p.D91N Missense 2/21 - 3
3-178916884-GA-TG c.271_272delinsTG p.D91C Missense 2/21 - 1
3-178916884-G-C c.271G>C p.D91H Missense 2/21 - 2
3-178916884-G-T c.271G>T p.D91Y Missense 2/21 - 1
3-178916885-A-C c.272A>C p.D91A Missense 2/21 - 3
3-178916885-A-G c.272A>G p.D91G Missense 2/21 - 1
3-178916886-C-A c.273C>A p.D91E Missense 2/21 - 3
3-178916886-C-T c.273C>T p.D91= Synonymous 2/21 - 2
3-178916885-A-AC c.274dup p.L92Pfs*12 Frameshift 2/21 - 1
3-178916887-C-A c.274C>A p.L92I Missense 2/21 - 1
3-178916887-C-G c.274C>G p.L92V Missense 2/21 - 1
3-178916887-C-T c.274C>T p.L92F Missense 2/21 - 3
3-178916888-T-A c.275T>A p.L92H Missense 2/21 - 1
3-178916888-T-C c.275T>C p.L92P Missense 2/21 - 2
3-178916888-T-G c.275T>G p.L92R Missense 2/21 - 1
3-178916889-T-A c.276T>A p.L92= Synonymous 2/21 - 4
3-178916889-T-C c.276T>C p.L92= Synonymous 2/21 - 4
3-178916889-T-G c.276T>G p.L92= Synonymous 2/21 - 4
3-178916890-C-G c.277C>G p.R93G Missense 2/21 - 3
3-178916890-CG-GC c.277_278delinsGC p.R93A Missense 2/21 - 1
3-178916890-CGG-TGT c.277_279delinsTGT p.R93C Missense 2/21 - 1
3-178916890-C-T c.277C>T p.R93W Missense 2/21 - 108
3-178916891-G-A c.278G>A p.R93Q Missense 2/21 - 102
3-178916891-G-C c.278G>C p.R93P Missense 2/21 - 8
3-178916891-G-T c.278G>T p.R93L Missense 2/21 - 10
3-178916892-G-A c.279G>A p.R93= Synonymous 2/21 - 1
3-178916893-C-A c.280C>A p.L94I Missense 2/21 - 1
3-178916893-C-G c.280C>G p.L94V Missense 2/21 - 1
3-178916893-C-T c.280C>T p.L94F Missense 2/21 - 1
3-178916893-CT-GC c.280_281delinsGC p.L94A Missense 2/21 - 1
3-178916894-T-A c.281T>A p.L94H Missense 2/21 - 1
3-178916894-T-C c.281T>C p.L94P Missense 2/21 - 10
3-178916895-T-A c.282T>A p.L94= Synonymous 2/21 - 1
3-178916895-T-C c.282T>C p.L94= Synonymous 2/21 - 1
3-178916895-T-G c.282T>G p.L94= Synonymous 2/21 - 1
3-178916896-T-C c.283T>C p.F95L Missense 2/21 - 3
3-178916896-TT-AA c.283_284inv p.F95N Missense 2/21 - 1
3-178916896-TT-GC c.283_284delinsGC p.F95A Missense 2/21 - 3
3-178916896-TTT-GAG c.283_285delinsGAG p.F95E Missense 2/21 - 1
3-178916898-T-A c.285T>A p.F95L Missense 2/21 - 1
3-178916898-T-G c.285T>G p.F95L Missense 2/21 - 1
3-178916897-T-G c.284T>G p.F95C Missense 2/21 - 2
3-178916899-C-A c.286C>A p.Q96K Missense 2/21 - 1
3-178916899-CA-GC c.286_287delinsGC p.Q96A Missense 2/21 - 1
3-178916899-C-G c.286C>G p.Q96E Missense 2/21 - 1
3-178916899-C-T c.286C>T p.Q96* Nonsense 2/21 - 4
3-178916900-A-G c.287A>G p.Q96R Missense 2/21 - 1
3-178916900-A-T c.287A>T p.Q96L Missense 2/21 - 1
3-178916899-C-CAATA c.288_289insTAAA p.P97* Nonsense 2/21 - 1
3-178916901-A-C c.288A>C p.Q96H Missense 2/21 - 1
3-178916901-A-G c.288A>G p.Q96= Synonymous 2/21 - 1
3-178916901-A-T c.288A>T p.Q96H Missense 2/21 - 1
3-178916902-C-A c.289C>A p.P97T Missense 2/21 - 3
3-178916902-CCC-GAG c.289_291delinsGAG p.P97E Missense 2/21 - 1
3-178916902-C-T c.289C>T p.P97S Missense 2/21 - 3
3-178916903-C-A c.290C>A p.P97H Missense 2/21 - 2
3-178916903-C-T c.290C>T p.P97L Missense 2/21 - 3
3-178916901-A-AC c.291dup p.F98Lfs*6 Frameshift 2/21 - 1
3-178916904-C-A c.291C>A p.P97= Synonymous 2/21 - 3
3-178916904-C-T c.291C>T p.P97= Synonymous 2/21 - 3
3-178916905-T-C c.292T>C p.F98L Missense 2/21 - 4
3-178916905-TT-GA c.292_293delinsGA p.F98D Missense 2/21 - 3
3-178916905-TTT-GAG c.292_294delinsGAG p.F98E Missense 2/21 - 1
3-178916907-T-A c.294T>A p.F98L Missense 2/21 - 1
3-178916907-T-G c.294T>G p.F98L Missense 2/21 - 1
3-178916906-T-C c.293T>C p.F98S Missense 2/21 - 1
3-178916906-T-G c.293T>G p.F98C Missense 2/21 - 3
3-178916907-T-C c.294T>C p.F98= Synonymous 2/21 - 1
3-178916904-CTT-C c.295_296del p.L99Kfs*4 Frameshift 2/21 - 1
3-178916908-T-C c.295T>C p.L99= Synonymous 2/21 - 1
3-178916908-TT-GC c.295_296delinsGC p.L99A Missense 2/21 - 3
3-178916910-A-G c.297A>G p.L99= Synonymous 2/21 - 1
3-178916904-C-CT c.296dup p.L99Ffs*5 Frameshift 2/21 - 2
3-178916909-T-A c.296T>A p.L99* Nonsense 2/21 - 1
3-178916909-T-C c.296T>C p.L99S Missense 2/21 - 1
3-178916909-T-G c.296T>G p.L99* Nonsense 2/21 - 1
3-178916910-A-C c.297A>C p.L99F Missense 2/21 - 1
3-178916910-A-T c.297A>T p.L99F Missense 2/21 - 2
3-178916911-A-C c.298A>C p.K100Q Missense 2/21 - 2
3-178916911-A-T c.298A>T p.K100* Nonsense 2/21 - 2
3-178916912-A-G c.299A>G p.K100R Missense 2/21 - 9
3-178916909-TA-T c.300del p.V101* Frameshift 2/21 - 1
3-178916913-A-C c.300A>C p.K100N Missense 2/21 - 2
3-178916913-A-T c.300A>T p.K100N Missense 2/21 - 1
3-178916914-G-C c.301G>C p.V101L Missense 2/21 - 2
3-178916914-G-T c.301G>T p.V101L Missense 2/21 - 2
3-178916914-GTA-ATG c.301_303delinsATG p.V101M Missense 2/21 - 1
3-178916914-GTA-TGT c.301_303delinsTGT p.V101C Missense 2/21 - 1
3-178916915-T-C c.302T>C p.V101A Missense 2/21 - 1
3-178916915-T-G c.302T>G p.V101G Missense 2/21 - 2
3-178916914-GTAA-G c.303_305del p.I102del InFrameDeletion 2/21 - 2
3-178916916-A-T c.303A>T p.V101= Synonymous 2/21 - 1
3-178916912-AAGTAATTGAACC-A c.304_315del p.I102_V105del InFrameDeletion 2/21 - 1
3-178916917-AATT-A c.304_306del p.I102del InFrameDeletion 2/21 - 1
3-178916917-A-C c.304A>C p.I102L Missense 2/21 - 1
3-178916917-A-G c.304A>G p.I102V Missense 2/21 - 1
3-178916917-A-T c.304A>T p.I102F Missense 2/21 - 4
3-178916918-ATTG-A c.305_307del p.I102_E103delinsK MultiAAMissense 2/21 - 4
3-178916918-T-A c.305T>A p.I102N Missense 2/21 - 3
3-178916918-T-C c.305T>C p.I102T Missense 2/21 - 8
3-178916918-T-G c.305T>G p.I102S Missense 2/21 - 1
3-178916919-T-A c.306T>A p.I102= Synonymous 2/21 - 1
3-178916919-T-C c.306T>C p.I102= Synonymous 2/21 - 1
3-178916920-G-A c.307G>A p.E103K Missense 2/21 - 5
3-178916920-G-C c.307G>C p.E103Q Missense 2/21 - 2
3-178916920-G-T c.307G>T p.E103* Nonsense 2/21 - 2
3-178916920-TGAA-T c.307_309del p.E103del InFrameDeletion 2/21 - 2
3-178916919-TGAACCAGTA-T c.308_316del p.E103_V105del InFrameDeletion 2/21 - 4
3-178916919-TGAACCA-T c.308_313del p.E103_P104del InFrameDeletion 2/21 - 6
3-178916921-A-C c.308A>C p.E103A Missense 2/21 - 1
3-178916921-A-G c.308A>G p.E103G Missense 2/21 - 12
3-178916921-A-T c.308A>T p.E103V Missense 2/21 - 2
3-178916921-GAAC-G c.308_310del p.E103_P104delinsA MultiAAMissense 2/21 - 1
3-178916920-GA-G c.309del p.E103Dfs*3 Frameshift 2/21 - 1
3-178916922-AACCAGTAGG-A c.309_317del p.E103_G106delinsD MultiAAMissense 2/21 - 4
3-178916922-A-C c.309A>C p.E103D Missense 2/21 - 1
3-178916922-A-G c.309A>G p.E103= Synonymous 2/21 - 2
3-178916922-A-T c.309A>T p.E103D Missense 2/21 - 1
3-178916919-TGAACCAGTAGGCAACCGTGAA-T c.310_330del p.P104_E110del InFrameDeletion 2/21 - 1
3-178916921-AACC-A c.310_312del p.P104del InFrameDeletion 2/21 - 5
3-178916921-AACCAGT-A c.310_315del p.P104_V105del InFrameDeletion 2/21 - 2
3-178916923-ACCAGTAGGC-A c.310_318del p.P104_G106del InFrameDeletion 2/21 - 1
3-178916923-C-A c.310C>A p.P104T Missense 2/21 - 13
3-178916923-CC-AT c.310_311delinsAT p.P104I Missense 2/21 - 1
3-178916923-C-G c.310C>G p.P104A Missense 2/21 - 1
3-178916923-C-T c.310C>T p.P104S Missense 2/21 - 4
3-178916922-ACCAGTAGGCAAC-A c.311_322del p.P104_N107del InFrameDeletion 2/21 - 1
3-178916924-C-A c.311C>A p.P104Q Missense 2/21 - 3
3-178916924-CA-AT c.311_312delinsAT p.P104H Missense 2/21 - 1
3-178916924-CCAG-C c.311_313del p.P104_V105delinsL MultiAAMissense 2/21 - 5
3-178916924-CCAGTAG-C c.311_316del p.P104_G106delinsR MultiAAMissense 2/21 - 3
3-178916924-C-G c.311C>G p.P104R Missense 2/21 - 23
3-178916924-C-T c.311C>T p.P104L Missense 2/21 - 79
3-178916925-A-C c.312A>C p.P104= Synonymous 2/21 - 1
3-178916925-A-G c.312A>G p.P104= Synonymous 2/21 - 1
3-178916925-A-T c.312A>T p.P104= Synonymous 2/21 - 1
3-178916925-CAGTAGG-C c.312_317del p.V105_G106del InFrameDeletion 2/21 - 3
3-178916925-CAGTAGGCAACCG-C c.312_323del p.V105_R108del InFrameDeletion 2/21 - 1
3-178916926-AGTAGGCAAC-A c.313_321del p.V105_N107del InFrameDeletion 2/21 - 1
3-178916926-G-A c.313G>A p.V105I Missense 2/21 - 2
3-178916926-GTA-TGT c.313_315delinsTGT p.V105C Missense 2/21 - 12
3-178916924-CAGT-C c.314_316del p.V105del InFrameDeletion 2/21 - 10
3-178916925-AGTAGGCAACCGT-A c.314_325del p.V105_R108del InFrameDeletion 2/21 - 7
3-178916927-T-C c.314T>C p.V105A Missense 2/21 - 3
3-178916928-A-C c.315A>C p.V105= Synonymous 2/21 - 2
3-178916928-A-G c.315A>G p.V105= Synonymous 2/21 - 4
3-178916928-A-T c.315A>T p.V105= Synonymous 2/21 - 2
3-178916928-TAGGCAACCG-T c.315_323del p.G106_R108del InFrameDeletion 2/21 - 2
3-178916929-AGGC-A c.316_318del p.G106del InFrameDeletion 2/21 - 4
3-178916929-AGGCAAC-A c.316_321del p.G106_N107del InFrameDeletion 2/21 - 2
3-178916929-G-A c.316G>A p.G106S Missense 2/21 - 13
3-178916929-G-C c.316G>C p.G106R Missense 2/21 - 49
3-178916929-GG-CT c.316_317delinsCT p.G106L Missense 2/21 - 1
3-178916929-G-T c.316G>T p.G106C Missense 2/21 - 14
3-178916927-TAGGCAACCGTGA-T c.317_328del p.G106_E109del InFrameDeletion 2/21 - 7
3-178916928-AGGCAACCGT-A c.317_325del p.G106_R108del InFrameDeletion 2/21 - 14
3-178916930-G-A c.317G>A p.G106D Missense 2/21 - 11
3-178916930-G-C c.317G>C p.G106A Missense 2/21 - 5
3-178916930-GC-AG c.317_318delinsAG p.G106E Missense 2/21 - 2
3-178916930-GC-TT c.317_318delinsTT p.G106V Missense 2/21 - 1
3-178916930-G-T c.317G>T p.G106V Missense 2/21 - 109
3-178916931-C-A c.318C>A p.G106= Synonymous 2/21 - 8
3-178916931-C-G c.318C>G p.G106= Synonymous 2/21 - 6
3-178916931-C-T c.318C>T p.G106= Synonymous 2/21 - 7
3-178916931-GCAACCGTGAAGA-G c.318_329del p.N107_E110del InFrameDeletion 2/21 - 1
3-178916930-GCAA-G c.319_321del p.N107del InFrameDeletion 2/21 - 5
3-178916932-AA-TG c.319_320delinsTG p.N107C Missense 2/21 - 18
3-178916932-A-C c.319A>C p.N107H Missense 2/21 - 5
3-178916932-A-G c.319A>G p.N107D Missense 2/21 - 4
3-178916932-A-T c.319A>T p.N107Y Missense 2/21 - 5
3-178916931-CA-C c.320del p.N107Tfs*38 Frameshift 2/21 - 2
3-178916933-A-C c.320A>C p.N107T Missense 2/21 - 6
3-178916933-A-G c.320A>G p.N107S Missense 2/21 - 21
3-178916933-A-T c.320A>T p.N107I Missense 2/21 - 5
3-178916931-CAACCGTGAAGAA-C c.321_332del p.N107_E110del InFrameDeletion 2/21 - 2
3-178916934-ACCG-A c.321_323del p.R108del InFrameDeletion 2/21 - 1
3-178916934-C-A c.321C>A p.N107K Missense 2/21 - 2
3-178916934-C-T c.321C>T p.N107= Synonymous 2/21 - 1
3-178916935-C-A c.322C>A p.R108S Missense 2/21 - 5
3-178916935-CCGT-C c.322_324del p.R108del InFrameDeletion 2/21 - 21
3-178916935-CCGTGAA-C c.322_327del p.R108_E109del InFrameDeletion 2/21 - 1
3-178916935-CCGTGAAGAAAAG-C c.322_333del p.R108_K111del InFrameDeletion 2/21 - 2
3-178916935-CG-TA c.322_323delinsTA p.R108Y Missense 2/21 - 1
3-178916935-CGT-AAG c.322_324delinsAAG p.R108K Missense 2/21 - 8
3-178916935-CGT-TGA c.322_324delinsTGA p.R108* Nonsense 2/21 - 1
3-178916935-C-T c.322C>T p.R108C Missense 2/21 - 18
3-178916936-CGTG-C c.323_325del p.R108_E109delinsQ MultiAAMissense 2/21 - 3
3-178916936-G-A c.323G>A p.R108H Missense 2/21 - 161
3-178916936-G-C c.323G>C p.R108P Missense 2/21 - 10
3-178916936-G-T c.323G>T p.R108L Missense 2/21 - 14
3-178916936-GT-AA c.323_324delinsAA p.R108Q Missense 2/21 - 2
3-178916936-G-GT c.324dup p.E109* Nonsense 2/21 - 3
3-178916937-GTGAAGAAAAGATCCT-G c.324_338del p.E109_L113del InFrameDeletion 2/21 - 1
3-178916937-GTGAAGAAAAGAT-G c.324_335del p.E109_I112del InFrameDeletion 2/21 - 1
3-178916937-GTGA-G c.324_326del p.E110del InFrameDeletion 2/21 - 1
3-178916937-T-A c.324T>A p.R108= Synonymous 2/21 - 2
3-178916938-G-A c.325G>A p.E109K Missense 2/21 - 4
3-178916938-G-C c.325G>C p.E109Q Missense 2/21 - 1
3-178916938-G-T c.325G>T p.E109* Nonsense 2/21 - 1
3-178916938-TGAAGAAAAGATC-T c.325_336del p.E109_I112del InFrameDeletion 2/21 - 2
3-178916939-A-G c.326A>G p.E109G Missense 2/21 - 1
3-178916938-G-GA c.327dup p.E110Rfs*18 Frameshift 2/21 - 1
3-178916940-AAGAAAAGAT-A c.327_335del p.E109_I112delinsD MultiAAMissense 2/21 - 4
3-178916940-A-C c.327A>C p.E109D Missense 2/21 - 3
3-178916940-A-G c.327A>G p.E109= Synonymous 2/21 - 4
3-178916937-TGAA-T c.328_330del p.E110del InFrameDeletion 2/21 - 94
3-178916938-GAAGA-G c.328_331del p.E110Rfs*34 Frameshift 2/21 - 1
3-178916941-AGAAAAGATCCTCAAT-A c.328_342del p.E110_N114del InFrameDeletion 2/21 - 1
3-178916941-G-A c.328G>A p.E110K Missense 2/21 - 30
3-178916941-GA-AT c.328_329delinsAT p.E110I Missense 2/21 - 1
3-178916941-G-C c.328G>C p.E110Q Missense 2/21 - 2
3-178916942-A-T c.329A>T p.E110V Missense 2/21 - 1
3-178916942-GAAAAGATCCTCAATC-G c.329_343del p.E110_R115delinsG MultiAAMissense 2/21 - 1
3-178916941-GAAA-G c.330_332del p.K111del InFrameDeletion 2/21 - 2
3-178916943-AAAAGAT-A c.330_335del p.E110_I112delinsD MultiAAMissense 2/21 - 1
3-178916943-A-AT c.330_331insT p.K111* Nonsense 2/21 - 1
3-178916943-A-C c.330A>C p.E110D Missense 2/21 - 1
3-178916943-A-T c.330A>T p.E110D Missense 2/21 - 1
3-178916941-GAA-G c.331_332del p.K111Dfs*16 Frameshift 2/21 - 3
3-178916944-AAAGATC-A c.331_336del p.K111_I112del InFrameDeletion 2/21 - 1
3-178916944-AAG-TTT c.331_333delinsTTT p.K111F Missense 2/21 - 2
3-178916944-A-C c.331A>C p.K111Q Missense 2/21 - 4
3-178916944-A-G c.331A>G p.K111E Missense 2/21 - 169
3-178916941-GA-G c.332del p.K111Rfs*34 Frameshift 2/21 - 1
3-178916941-G-GA c.332dup p.I112Dfs*16 Frameshift 2/21 - 1
3-178916943-AAAG-A c.332_334del p.K111del InFrameDeletion 2/21 - 38
3-178916945-A-C c.332A>C p.K111T Missense 2/21 - 5
3-178916945-A-G c.332A>G p.K111R Missense 2/21 - 30
3-178916945-AG-TC c.332_333delinsTC p.K111I Missense 2/21 - 2
3-178916945-A-T c.332A>T p.K111M Missense 2/21 - 1
3-178916943-AAAGATCCTC-A c.333_341del p.K111_L113del InFrameDeletion 2/21 - 6
3-178916946-AGAT-A c.333_335del p.K111_I112delinsN MultiAAMissense 2/21 - 11
3-178916946-G-C c.333G>C p.K111N Missense 2/21 - 103
3-178916946-G-T c.333G>T p.K111N Missense 2/21 - 134
3-178916947-A-G c.334A>G p.I112V Missense 2/21 - 3
3-178916947-A-T c.334A>T p.I112F Missense 2/21 - 6
3-178916947-GATC-G c.334_336del p.I112del InFrameDeletion 2/21 - 3
3-178916948-T-A c.335T>A p.I112N Missense 2/21 - 16
3-178916948-T-C c.335T>C p.I112T Missense 2/21 - 1
3-178916948-T-G c.335T>G p.I112S Missense 2/21 - 1
3-178916947-ATCCTCAATCGAGAAAT-A c.336_351del p.I112Mfs*28 SpliceDonorDeletion 2/21 - 1
3-178916949-C-A c.336C>A p.I112= Synonymous 2/21 - 2
3-178916949-C-T c.336C>T p.I112= Synonymous 2/21 - 1
3-178916947-ATCC-A c.337_339del p.L113del InFrameDeletion 2/21 - 21
3-178916948-TC-T c.337del p.L113Sfs*32 Frameshift 2/21 - 1
3-178916950-C-A c.337C>A p.L113I Missense 2/21 - 2
3-178916950-C-G c.337C>G p.L113V Missense 2/21 - 1
3-178916950-C-T c.337C>T p.L113F Missense 2/21 - 3
3-178916949-CCTCAAT-C c.338_343del p.L113_N114del InFrameDeletion 2/21 - 2
3-178916951-T-A c.338T>A p.L113H Missense 2/21 - 1
3-178916951-T-C c.338T>C p.L113P Missense 2/21 - 1
3-178916951-T-G c.338T>G p.L113R Missense 2/21 - 1
3-178916952-C-A c.339C>A p.L113= Synonymous 2/21 - 1
3-178916952-C-G c.339C>G p.L113= Synonymous 2/21 - 1
3-178916953-A-G c.340A>G p.N114D Missense 2/21 - 3
3-178916953-A-T c.340A>T p.N114Y Missense 2/21 - 1
3-178916953-CAAT-C c.340_342del p.N114del InFrameDeletion 2/21 - 2
3-178916954-A-C c.341A>C p.N114T Missense 2/21 - 1
3-178916954-A-G c.341A>G p.N114S Missense 2/21 - 6
3-178916955-T-TCTTAAC c.343_344insTTAACC p.L113_N114dup InFrameInsertion 2/21 - 2
3-178916956-C-A c.343C>A p.R115= Synonymous 2/21 - 2
3-178916956-C-G c.343C>G p.R115G Missense 2/21 - 1
3-178916956-CG-AC c.343_344delinsAC p.R115T Missense 2/21 - 1
3-178916956-CGA-TGG c.343_345delinsTGG p.R115W Missense 2/21 - 1
3-178916956-C-T c.343C>T p.R115* Nonsense 2/21 - 8
3-178916956-TCGA-T c.343_345del p.R115del InFrameDeletion 2/21 - 1
3-178916958-A-C c.345A>C p.R115= Synonymous 2/21 - 1
3-178916958-A-G c.345A>G p.R115= Synonymous 2/21 - 1
3-178916958-A-T c.345A>T p.R115= Synonymous 2/21 - 1
3-178916957-G-A c.344G>A p.R115Q Missense 2/21 - 11
3-178916957-GA-AT c.344_345delinsAT p.R115H Missense 2/21 - 1
3-178916957-G-C c.344G>C p.R115P Missense 2/21 - 37
3-178916957-G-T c.344G>T p.R115L Missense 2/21 - 50
3-178916959-AG-A c.346del p.E116Kfs*29 Frameshift 2/21 - 1
3-178916959-G-A c.346G>A p.E116K Missense 2/21 - 7
3-178916959-G-C c.346G>C p.E116Q Missense 2/21 - 3
3-178916959-G-T c.346G>T p.E116* Nonsense 2/21 - 2
3-178916960-A-C c.347A>C p.E116A Missense 2/21 - 1
3-178916960-A-G c.347A>G p.E116G Missense 2/21 - 2
3-178916961-A-C c.348A>C p.E116D Missense 2/21 - 1
3-178916961-A-G c.348A>G p.E116= Synonymous 2/21 - 1
3-178916961-A-T c.348A>T p.E116D Missense 2/21 - 1
3-178916962-A-G c.349A>G p.I117V Missense 2/21 - 1
3-178916963-T-A c.350T>A p.I117N Missense 2/21 - 1
3-178916963-T-G c.350T>G p.I117S Missense 2/21 - 1
3-178916964-T-A c.351T>A p.I117= Synonymous 2/21 - 1
3-178916965-G-A c.352G>A p.G118S Missense 2/21 - 3
3-178916965-G-T c.352G>T p.G118C Missense 2/21 - 1
3-178916966-G-A c.352+1G>A - IntronicSNV - 2/20 1
3-178916967-T-G c.352+2T>G - IntronicSNV - 2/20 1
3-178916968-A-G c.352+3A>G - IntronicSNV - 2/20 1
3-178916969-T-A c.352+4T>A - IntronicSNV - 2/20 2
3-178916970-G-T c.352+5G>T - IntronicSNV - 2/20 2
3-178916971-A-G c.352+6A>G - IntronicSNV - 2/20 1
3-178916972-T-A c.352+7T>A - IntronicSNV - 2/20 1
3-178916972-T-C c.352+7T>C - IntronicSNV - 2/20 2
3-178916974-C-A c.352+9C>A - IntronicSNV - 2/20 1
3-178917005-A-G c.352+40A>G - IntronicSNV - 2/20 24
3-178917042-C-T c.352+77C>T - IntronicSNV - 2/20 1
3-178917088-C-CATT c.352+125_352+126insTAT - IntronicInsertion - 2/20 2
3-178917478-G-A c.353G>A p.G118D Missense 3/21 - 180
3-178917478-G-C c.353G>C p.G118A Missense 3/21 - 3
3-178917478-G-T c.353G>T p.G118V Missense 3/21 - 1
3-178917479-T-A c.354T>A p.G118= Synonymous 3/21 - 1
3-178917479-T-C c.354T>C p.G118= Synonymous 3/21 - 2
3-178917479-T-G c.354T>G p.G118= Synonymous 3/21 - 1
3-178917480-T-C c.355T>C p.F119L Missense 3/21 - 1
3-178917482-T-A c.357T>A p.F119L Missense 3/21 - 1
3-178917482-T-G c.357T>G p.F119L Missense 3/21 - 1
3-178917481-T-C c.356T>C p.F119S Missense 3/21 - 1
3-178917481-T-G c.356T>G p.F119C Missense 3/21 - 1
3-178917483-G-A c.358G>A p.A120T Missense 3/21 - 2
3-178917483-G-C c.358G>C p.A120P Missense 3/21 - 1
3-178917484-C-A c.359C>A p.A120D Missense 3/21 - 2
3-178917484-C-G c.359C>G p.A120G Missense 3/21 - 1
3-178917484-C-T c.359C>T p.A120V Missense 3/21 - 4
3-178917485-T-A c.360T>A p.A120= Synonymous 3/21 - 1
3-178917485-T-C c.360T>C p.A120= Synonymous 3/21 - 2
3-178917485-T-G c.360T>G p.A120= Synonymous 3/21 - 1
3-178917486-A-G c.361A>G p.I121V Missense 3/21 - 3
3-178917487-T-C c.362T>C p.I121T Missense 3/21 - 1
3-178917488-C-A c.363C>A p.I121= Synonymous 3/21 - 6
3-178917488-C-G c.363C>G p.I121M Missense 3/21 - 3
3-178917488-C-T c.363C>T p.I121= Synonymous 3/21 - 5
3-178917489-G-A c.364G>A p.G122S Missense 3/21 - 5
3-178917489-G-T c.364G>T p.G122C Missense 3/21 - 3
3-178917490-G-A c.365G>A p.G122D Missense 3/21 - 10
3-178917490-GC-AG c.365_366delinsAG p.G122E Missense 3/21 - 1
3-178917490-G-T c.365G>T p.G122V Missense 3/21 - 2
3-178917491-C-A c.366C>A p.G122= Synonymous 3/21 - 1
3-178917491-C-T c.366C>T p.G122= Synonymous 3/21 - 1
3-178917492-A-T c.367A>T p.M123L Missense 3/21 - 2
3-178917493-T-C c.368T>C p.M123T Missense 3/21 - 1
3-178917494-G-A c.369G>A p.M123I Missense 3/21 - 7
3-178917494-G-C c.369G>C p.M123I Missense 3/21 - 6
3-178917494-G-T c.369G>T p.M123I Missense 3/21 - 8
3-178917495-C-A c.370C>A p.P124T Missense 3/21 - 7
3-178917495-C-G c.370C>G p.P124A Missense 3/21 - 6
3-178917495-C-T c.370C>T p.P124S Missense 3/21 - 5
3-178917496-C-A c.371C>A p.P124Q Missense 3/21 - 5
3-178917496-C-T c.371C>T p.P124L Missense 3/21 - 29
3-178917498-G-A c.373G>A p.V125M Missense 3/21 - 1
3-178917499-T-A c.374T>A p.V125E Missense 3/21 - 2
3-178917499-T-C c.374T>C p.V125A Missense 3/21 - 6
3-178917499-T-G c.374T>G p.V125G Missense 3/21 - 1
3-178917501-T-G c.376T>G p.C126G Missense 3/21 - 1
3-178917501-TG-GC c.376_377delinsGC p.C126A Missense 3/21 - 2
3-178917502-G-A c.377G>A p.C126Y Missense 3/21 - 1
3-178917502-G-T c.377G>T p.C126F Missense 3/21 - 1
3-178917502-TG-T c.377del p.C126Lfs*19 Frameshift 3/21 - 1
3-178917503-T-A c.378T>A p.C126* Nonsense 3/21 - 1
3-178917503-T-C c.378T>C p.C126= Synonymous 3/21 - 1
3-178917504-G-A c.379G>A p.E127K Missense 3/21 - 4
3-178917504-G-C c.379G>C p.E127Q Missense 3/21 - 1
3-178917504-G-T c.379G>T p.E127* Nonsense 3/21 - 1
3-178917505-A-C c.380A>C p.E127A Missense 3/21 - 2
3-178917505-A-G c.380A>G p.E127G Missense 3/21 - 3
3-178917505-A-T c.380A>T p.E127V Missense 3/21 - 2
3-178917507-T-C c.382T>C p.F128L Missense 3/21 - 2
3-178917509-T-A c.384T>A p.F128L Missense 3/21 - 1
3-178917509-T-G c.384T>G p.F128L Missense 3/21 - 1
3-178917506-AT-A c.384del p.F128Lfs*17 Frameshift 3/21 - 2
3-178917510-G-A c.385G>A p.D129N Missense 3/21 - 3
3-178917510-GAT-AAG c.385_387delinsAAG p.D129K Missense 3/21 - 2
3-178917510-G-C c.385G>C p.D129H Missense 3/21 - 5
3-178917510-G-T c.385G>T p.D129Y Missense 3/21 - 3
3-178917511-A-C c.386A>C p.D129A Missense 3/21 - 1
3-178917511-A-G c.386A>G p.D129G Missense 3/21 - 1
3-178917511-A-T c.386A>T p.D129V Missense 3/21 - 3
3-178917513-A-C c.388A>C p.M130L Missense 3/21 - 2
3-178917513-A-G c.388A>G p.M130V Missense 3/21 - 1
3-178917513-A-T c.388A>T p.M130L Missense 3/21 - 2
3-178917513-TA-T c.388del p.M130Wfs*15 Frameshift 3/21 - 1
3-178917514-T-C c.389T>C p.M130T Missense 3/21 - 2
3-178917516-G-A c.391G>A p.V131I Missense 3/21 - 3
3-178917516-G-T c.391G>T p.V131F Missense 3/21 - 2
3-178917516-GTT-ATG c.391_393delinsATG p.V131M Missense 3/21 - 1
3-178917517-T-A c.392T>A p.V131D Missense 3/21 - 1
3-178917517-T-C c.392T>C p.V131A Missense 3/21 - 2
3-178917516-G-GT c.393dup p.K132* Nonsense 3/21 - 1
3-178917519-A-C c.394A>C p.K132Q Missense 3/21 - 2
3-178917519-A-G c.394A>G p.K132E Missense 3/21 - 4
3-178917519-A-T c.394A>T p.K132* Nonsense 3/21 - 1
3-178917520-A-C c.395A>C p.K132T Missense 3/21 - 2
3-178917520-A-G c.395A>G p.K132R Missense 3/21 - 6
3-178917521-A-C c.396A>C p.K132N Missense 3/21 - 5
3-178917521-A-G c.396A>G p.K132= Synonymous 3/21 - 1
3-178917521-A-T c.396A>T p.K132N Missense 3/21 - 4
3-178917522-AGAT-A c.397_399del p.D133del InFrameDeletion 3/21 - 1
3-178917522-G-A c.397G>A p.D133N Missense 3/21 - 1
3-178917522-G-C c.397G>C p.D133H Missense 3/21 - 1
3-178917522-G-T c.397G>T p.D133Y Missense 3/21 - 1
3-178917523-A-C c.398A>C p.D133A Missense 3/21 - 2
3-178917523-A-G c.398A>G p.D133G Missense 3/21 - 2
3-178917523-A-T c.398A>T p.D133V Missense 3/21 - 1
3-178917524-T-A c.399T>A p.D133E Missense 3/21 - 2
3-178917524-T-C c.399T>C p.D133= Synonymous 3/21 - 1
3-178917524-T-G c.399T>G p.D133E Missense 3/21 - 2
3-178917525-C-A c.400C>A p.P134T Missense 3/21 - 1
3-178917525-C-G c.400C>G p.P134A Missense 3/21 - 1
3-178917525-C-T c.400C>T p.P134S Missense 3/21 - 10
3-178917526-C-A c.401C>A p.P134Q Missense 3/21 - 3
3-178917526-C-T c.401C>T p.P134L Missense 3/21 - 3
3-178917527-A-G c.402A>G p.P134= Synonymous 3/21 - 1
3-178917527-A-T c.402A>T p.P134= Synonymous 3/21 - 1
3-178917528-G-A c.403G>A p.E135K Missense 3/21 - 6
3-178917528-G-C c.403G>C p.E135Q Missense 3/21 - 1
3-178917528-G-T c.403G>T p.E135* Nonsense 3/21 - 1
3-178917529-A-T c.404A>T p.E135V Missense 3/21 - 1
3-178917531-G-A c.406G>A p.V136I Missense 3/21 - 6
3-178917531-G-C c.406G>C p.V136L Missense 3/21 - 1
3-178917531-G-T c.406G>T p.V136L Missense 3/21 - 2
3-178917531-G-GT c.407dup p.Q137Tfs*12 Frameshift 3/21 - 1
3-178917533-A-C c.408A>C p.V136= Synonymous 3/21 - 2
3-178917533-A-G c.408A>G p.V136= Synonymous 3/21 - 2
3-178917533-A-T c.408A>T p.V136= Synonymous 3/21 - 2
3-178917534-C-A c.409C>A p.Q137K Missense 3/21 - 2
3-178917534-C-G c.409C>G p.Q137E Missense 3/21 - 1
3-178917534-C-T c.409C>T p.Q137* Nonsense 3/21 - 5
3-178917535-A-C c.410A>C p.Q137P Missense 3/21 - 1
3-178917535-A-G c.410A>G p.Q137R Missense 3/21 - 3
3-178917535-A-T c.410A>T p.Q137L Missense 3/21 - 4
3-178917536-G-A c.411G>A p.Q137= Synonymous 3/21 - 1
3-178917536-G-C c.411G>C p.Q137H Missense 3/21 - 1
3-178917536-G-T c.411G>T p.Q137H Missense 3/21 - 1
3-178917537-G-A c.412G>A p.D138N Missense 3/21 - 1
3-178917537-G-C c.412G>C p.D138H Missense 3/21 - 2
3-178917537-G-T c.412G>T p.D138Y Missense 3/21 - 3
3-178917538-A-C c.413A>C p.D138A Missense 3/21 - 1
3-178917538-A-G c.413A>G p.D138G Missense 3/21 - 2
3-178917538-A-T c.413A>T p.D138V Missense 3/21 - 1
3-178917539-C-A c.414C>A p.D138E Missense 3/21 - 4
3-178917539-C-G c.414C>G p.D138E Missense 3/21 - 2
3-178917539-C-T c.414C>T p.D138= Synonymous 3/21 - 1
3-178917540-T-C c.415T>C p.F139L Missense 3/21 - 1
3-178917541-T-G c.416T>G p.F139C Missense 3/21 - 1
3-178917542-C-A c.417C>A p.F139L Missense 3/21 - 1
3-178917542-C-T c.417C>T p.F139= Synonymous 3/21 - 2
3-178917543-C-A c.418C>A p.R140= Synonymous 3/21 - 3
3-178917543-C-G c.418C>G p.R140G Missense 3/21 - 1
3-178917543-CGA-ATG c.418_420delinsATG p.R140M Missense 3/21 - 3
3-178917543-CGA-TGG c.418_420delinsTGG p.R140W Missense 3/21 - 1
3-178917543-CG-GC c.418_419delinsGC p.R140A Missense 3/21 - 1
3-178917543-C-T c.418C>T p.R140* Nonsense 3/21 - 7
3-178917545-A-C c.420A>C p.R140= Synonymous 3/21 - 2
3-178917545-A-G c.420A>G p.R140= Synonymous 3/21 - 2
3-178917545-A-T c.420A>T p.R140= Synonymous 3/21 - 2
3-178917544-G-A c.419G>A p.R140Q Missense 3/21 - 28
3-178917544-GA-AT c.419_420delinsAT p.R140H Missense 3/21 - 3
3-178917544-G-T c.419G>T p.R140L Missense 3/21 - 1
3-178917546-A-G c.421A>G p.R141G Missense 3/21 - 1
3-178917546-AGA-CAT c.421_423delinsCAT p.R141H Missense 3/21 - 16
3-178917546-AGA-TAT c.421_423delinsTAT p.R141Y Missense 3/21 - 1
3-178917546-AGA-TGG c.421_423delinsTGG p.R141W Missense 3/21 - 6
3-178917546-AGA-TGT c.421_423delinsTGT p.R141C Missense 3/21 - 17
3-178917546-AG-CC c.421_422delinsCC p.R141P Missense 3/21 - 1
3-178917546-AG-CT c.421_422inv p.R141L Missense 3/21 - 6
3-178917547-G-A c.422G>A p.R141K Missense 3/21 - 5
3-178917547-G-C c.422G>C p.R141T Missense 3/21 - 1
3-178917547-G-T c.422G>T p.R141I Missense 3/21 - 1
3-178917548-A-C c.423A>C p.R141S Missense 3/21 - 1
3-178917548-A-T c.423A>T p.R141S Missense 3/21 - 2
3-178917549-AAATATTC-A c.424_430del p.N142* Frameshift 3/21 - 1
3-178917549-A-G c.424A>G p.N142D Missense 3/21 - 2
3-178917551-T-A c.426T>A p.N142K Missense 3/21 - 2
3-178917551-T-G c.426T>G p.N142K Missense 3/21 - 1
3-178917552-A-G c.427A>G p.I143V Missense 3/21 - 3
3-178917552-A-T c.427A>T p.I143F Missense 3/21 - 1
3-178917553-T-A c.428T>A p.I143N Missense 3/21 - 1
3-178917553-T-C c.428T>C p.I143T Missense 3/21 - 2
3-178917553-T-G c.428T>G p.I143S Missense 3/21 - 2
3-178917554-T-G c.429T>G p.I143M Missense 3/21 - 2
3-178917555-C-A c.430C>A p.L144M Missense 3/21 - 1
3-178917555-C-G c.430C>G p.L144V Missense 3/21 - 1
3-178917555-CTG-TTT c.430_432delinsTTT p.L144F Missense 3/21 - 1
3-178917556-T-A c.431T>A p.L144Q Missense 3/21 - 1
3-178917556-T-C c.431T>C p.L144P Missense 3/21 - 2
3-178917557-G-A c.432G>A p.L144= Synonymous 3/21 - 1
3-178917557-G-T c.432G>T p.L144= Synonymous 3/21 - 2
3-178917558-AAC-CAA c.433_435delinsCAA p.N145Q Missense 3/21 - 1
3-178917558-A-G c.433A>G p.N145D Missense 3/21 - 1
3-178917559-A-G c.434A>G p.N145S Missense 3/21 - 3
3-178917560-C-A c.435C>A p.N145K Missense 3/21 - 2
3-178917560-C-G c.435C>G p.N145K Missense 3/21 - 1
3-178917560-C-T c.435C>T p.N145= Synonymous 3/21 - 7
3-178917561-G-A c.436G>A p.V146I Missense 3/21 - 20
3-178917561-G-T c.436G>T p.V146F Missense 3/21 - 1
3-178917562-T-A c.437T>A p.V146D Missense 3/21 - 2
3-178917564-T-A c.439T>A p.C147S Missense 3/21 - 2
3-178917564-T-C c.439T>C p.C147R Missense 3/21 - 2
3-178917564-TG-GC c.439_440delinsGC p.C147A Missense 3/21 - 2
3-178917564-TGT-AAG c.439_441delinsAAG p.C147K Missense 3/21 - 1
3-178917565-G-C c.440G>C p.C147S Missense 3/21 - 2
3-178917565-G-A c.440G>A p.C147Y Missense 3/21 - 4
3-178917565-G-T c.440G>T p.C147F Missense 3/21 - 3
3-178917566-T-A c.441T>A p.C147* Nonsense 3/21 - 2
3-178917567-AA-GC c.442_443delinsGC p.K148A Missense 3/21 - 2
3-178917567-A-G c.442A>G p.K148E Missense 3/21 - 1
3-178917567-A-T c.442A>T p.K148* Nonsense 3/21 - 1
3-178917568-A-C c.443A>C p.K148T Missense 3/21 - 1
3-178917568-A-G c.443A>G p.K148R Missense 3/21 - 4
3-178917569-A-C c.444A>C p.K148N Missense 3/21 - 2
3-178917569-A-T c.444A>T p.K148N Missense 3/21 - 3
3-178917570-G-A c.445G>A p.E149K Missense 3/21 - 2
3-178917571-A-C c.446A>C p.E149A Missense 3/21 - 2
3-178917571-A-G c.446A>G p.E149G Missense 3/21 - 2
3-178917573-G-A c.448G>A p.A150T Missense 3/21 - 4
3-178917573-G-C c.448G>C p.A150P Missense 3/21 - 1
3-178917574-C-A c.449C>A p.A150D Missense 3/21 - 1
3-178917574-C-T c.449C>T p.A150V Missense 3/21 - 1
3-178917575-T-A c.450T>A p.A150= Synonymous 3/21 - 1
3-178917576-G-A c.451G>A p.V151M Missense 3/21 - 7
3-178917576-G-T c.451G>T p.V151L Missense 3/21 - 2
3-178917577-T-A c.452T>A p.V151E Missense 3/21 - 1
3-178917578-G-A c.453G>A p.V151= Synonymous 3/21 - 1
3-178917579-G-A c.454G>A p.D152N Missense 3/21 - 2
3-178917579-GA-TG c.454_455delinsTG p.D152C Missense 3/21 - 1
3-178917579-G-C c.454G>C p.D152H Missense 3/21 - 4
3-178917579-G-T c.454G>T p.D152Y Missense 3/21 - 2
3-178917580-A-C c.455A>C p.D152A Missense 3/21 - 1
3-178917580-A-T c.455A>T p.D152V Missense 3/21 - 1
3-178917581-T-A c.456T>A p.D152E Missense 3/21 - 2
3-178917581-T-G c.456T>G p.D152E Missense 3/21 - 2
3-178917582-C-A c.457C>A p.L153I Missense 3/21 - 2
3-178917582-C-G c.457C>G p.L153V Missense 3/21 - 1
3-178917582-C-T c.457C>T p.L153F Missense 3/21 - 5
3-178917582-CT-AG c.457_458inv p.L153S Missense 3/21 - 1
3-178917582-CTT-ATG c.457_459delinsATG p.L153M Missense 3/21 - 1
3-178917583-T-A c.458T>A p.L153H Missense 3/21 - 1
3-178917583-T-C c.458T>C p.L153P Missense 3/21 - 3
3-178917583-T-G c.458T>G p.L153R Missense 3/21 - 1
3-178917585-AG-GC c.460_461delinsGC p.R154A Missense 3/21 - 1
3-178917585-AGG-CAT c.460_462delinsCAT p.R154H Missense 3/21 - 2
3-178917585-AGG-TGT c.460_462delinsTGT p.R154C Missense 3/21 - 1
3-178917585-AG-TA c.460_461delinsTA p.R154* Nonsense 3/21 - 1
3-178917585-A-T c.460A>T p.R154W Missense 3/21 - 2
3-178917586-G-A c.461G>A p.R154K Missense 3/21 - 3
3-178917586-G-C c.461G>C p.R154T Missense 3/21 - 2
3-178917586-G-T c.461G>T p.R154M Missense 3/21 - 1
3-178917587-G-A c.462G>A p.R154= Synonymous 3/21 - 1
3-178917585-AG-A c.463del p.D155Tfs*17 Frameshift 3/21 - 1
3-178917588-G-A c.463G>A p.D155N Missense 3/21 - 1
3-178917588-G-C c.463G>C p.D155H Missense 3/21 - 2
3-178917588-G-T c.463G>T p.D155Y Missense 3/21 - 1
3-178917589-A-C c.464A>C p.D155A Missense 3/21 - 1
3-178917589-A-T c.464A>T p.D155V Missense 3/21 - 2
3-178917590-C-A c.465C>A p.D155E Missense 3/21 - 2
3-178917590-C-T c.465C>T p.D155= Synonymous 3/21 - 1
3-178917589-A-AC c.466dup p.L156Pfs*6 Frameshift 3/21 - 1
3-178917591-C-A c.466C>A p.L156I Missense 3/21 - 1
3-178917591-C-G c.466C>G p.L156V Missense 3/21 - 2
3-178917591-C-T c.466C>T p.L156F Missense 3/21 - 3
3-178917591-CT-GC c.466_467delinsGC p.L156A Missense 3/21 - 1
3-178917592-T-A c.467T>A p.L156H Missense 3/21 - 1
3-178917592-T-C c.467T>C p.L156P Missense 3/21 - 1
3-178917593-C-A c.468C>A p.L156= Synonymous 3/21 - 5
3-178917593-C-G c.468C>G p.L156= Synonymous 3/21 - 2
3-178917593-C-T c.468C>T p.L156= Synonymous 3/21 - 2
3-178917594-AA-GC c.469_470delinsGC p.N157A Missense 3/21 - 2
3-178917594-AA-TG c.469_470delinsTG p.N157C Missense 3/21 - 1
3-178917594-A-G c.469A>G p.N157D Missense 3/21 - 1
3-178917595-A-C c.470A>C p.N157T Missense 3/21 - 1
3-178917597-T-A c.472T>A p.S158T Missense 3/21 - 3
3-178917597-T-G c.472T>G p.S158A Missense 3/21 - 1
3-178917598-C-A c.473C>A p.S158* Nonsense 3/21 - 1
3-178917598-CA-TT c.473_474delinsTT p.S158F Missense 3/21 - 1
3-178917598-C-G c.473C>G p.S158* Nonsense 3/21 - 1
3-178917598-C-T c.473C>T p.S158L Missense 3/21 - 7
3-178917597-TCAC-T c.474_476del p.P159del InFrameDeletion 3/21 - 1
3-178917599-A-G c.474A>G p.S158= Synonymous 3/21 - 1
3-178917600-C-A c.475C>A p.P159T Missense 3/21 - 1
3-178917600-C-T c.475C>T p.P159S Missense 3/21 - 3
3-178917599-A-AC c.476dup p.H160Sfs*2 Frameshift 3/21 - 1
3-178917601-C-A c.476C>A p.P159H Missense 3/21 - 1
3-178917601-C-T c.476C>T p.P159L Missense 3/21 - 1
3-178917602-T-A c.477T>A p.P159= Synonymous 3/21 - 1
3-178917602-T-C c.477T>C p.P159= Synonymous 3/21 - 1
3-178917603-C-A c.478C>A p.H160N Missense 3/21 - 3
3-178917603-CA-GC c.478_479delinsGC p.H160A Missense 3/21 - 1
3-178917603-C-T c.478C>T p.H160Y Missense 3/21 - 3
3-178917605-T-A c.480T>A p.H160Q Missense 3/21 - 1
3-178917605-T-G c.480T>G p.H160Q Missense 3/21 - 1
3-178917606-A-C c.481A>C p.S161R Missense 3/21 - 3
3-178917606-A-G c.481A>G p.S161G Missense 3/21 - 1
3-178917606-AG-GC c.481_482delinsGC p.S161A Missense 3/21 - 1
3-178917606-AG-TT c.481_482delinsTT p.S161F Missense 3/21 - 1
3-178917606-AGT-TGG c.481_483delinsTGG p.S161W Missense 3/21 - 1
3-178917607-G-T c.482G>T p.S161I Missense 3/21 - 1
3-178917608-T-A c.483T>A p.S161R Missense 3/21 - 2
3-178917608-T-C c.483T>C p.S161= Synonymous 3/21 - 2
3-178917608-T-G c.483T>G p.S161R Missense 3/21 - 2
3-178917609-A-G c.484A>G p.R162G Missense 3/21 - 3
3-178917609-AGA-CAT c.484_486delinsCAT p.R162H Missense 3/21 - 1
3-178917609-AGA-TGG c.484_486delinsTGG p.R162W Missense 3/21 - 1
3-178917609-AG-CA c.484_485delinsCA p.R162Q Missense 3/21 - 1
3-178917609-A-T c.484A>T p.R162* Nonsense 3/21 - 2
3-178917610-AG-A c.485del p.R162Kfs*10 Frameshift 3/21 - 1
3-178917610-G-A c.485G>A p.R162K Missense 3/21 - 5
3-178917609-A-C c.484A>C p.R162= Synonymous 3/21 - 1
3-178917611-A-C c.486A>C p.R162S Missense 3/21 - 1
3-178917611-A-G c.486A>G p.R162= Synonymous 3/21 - 1
3-178917611-A-T c.486A>T p.R162S Missense 3/21 - 1
3-178917612-G-A c.487G>A p.A163T Missense 3/21 - 1
3-178917612-GC-AG c.487_488delinsAG p.A163R Missense 3/21 - 1
3-178917613-C-A c.488C>A p.A163E Missense 3/21 - 5
3-178917613-CA-AC c.488_489delinsAC p.A163D Missense 3/21 - 1
3-178917613-C-T c.488C>T p.A163V Missense 3/21 - 1
3-178917615-A-T c.490A>T p.M164L Missense 3/21 - 1
3-178917616-T-A c.491T>A p.M164K Missense 3/21 - 1
3-178917617-G-A c.492G>A p.M164I Missense 3/21 - 2
3-178917617-G-C c.492G>C p.M164I Missense 3/21 - 2
3-178917617-G-T c.492G>T p.M164I Missense 3/21 - 2
3-178917618-T-C c.493T>C p.Y165H Missense 3/21 - 3
3-178917619-A-C c.494A>C p.Y165S Missense 3/21 - 1
3-178917619-A-G c.494A>G p.Y165C Missense 3/21 - 10
3-178917620-T-C c.495T>C p.Y165= Synonymous 3/21 - 1
3-178917620-T-G c.495T>G p.Y165* Nonsense 3/21 - 1
3-178917619-ATG-A c.496_497del p.V166Lfs*17 Frameshift 3/21 - 1
3-178917621-G-A c.496G>A p.V166I Missense 3/21 - 4
3-178917621-G-T c.496G>T p.V166F Missense 3/21 - 2
3-178917621-GTC-ATG c.496_498delinsATG p.V166M Missense 3/21 - 1
3-178917622-T-C c.497T>C p.V166A Missense 3/21 - 2
3-178917623-C-A c.498C>A p.V166= Synonymous 3/21 - 2
3-178917623-C-G c.498C>G p.V166= Synonymous 3/21 - 1
3-178917623-C-T c.498C>T p.V166= Synonymous 3/21 - 2
3-178917624-T-C c.499T>C p.Y167H Missense 3/21 - 2
3-178917624-T-G c.499T>G p.Y167D Missense 3/21 - 1
3-178917625-A-G c.500A>G p.Y167C Missense 3/21 - 2
3-178917626-T-C c.501T>C p.Y167= Synonymous 3/21 - 2
3-178917626-T-G c.501T>G p.Y167* Nonsense 3/21 - 1
3-178917627-C-A c.502C>A p.P168T Missense 3/21 - 1
3-178917627-C-G c.502C>G p.P168A Missense 3/21 - 1
3-178917627-C-T c.502C>T p.P168S Missense 3/21 - 5
3-178917628-C-A c.503C>A p.P168H Missense 3/21 - 1
3-178917628-C-T c.503C>T p.P168L Missense 3/21 - 1
3-178917629-T-C c.504T>C p.P168= Synonymous 3/21 - 1
3-178917630-C-A c.505C>A p.P169T Missense 3/21 - 1
3-178917630-C-T c.505C>T p.P169S Missense 3/21 - 2
3-178917629-TC-T c.506del p.P169Qfs*3 Frameshift 3/21 - 1
3-178917631-C-A c.506C>A p.P169Q Missense 3/21 - 3
3-178917631-CA-AT c.506_507delinsAT p.P169H Missense 3/21 - 1
3-178917633-A-T c.508A>T p.N170Y Missense 3/21 - 1
3-178917634-A-G c.509A>G p.N170S Missense 3/21 - 4
3-178917636-G-A c.511G>A p.V171I Missense 3/21 - 5
3-178917636-GTA-ATG c.511_513delinsATG p.V171M Missense 3/21 - 1
3-178917637-T-A c.512T>A p.V171E Missense 3/21 - 2
3-178917637-T-C c.512T>C p.V171A Missense 3/21 - 1
3-178917638-A-G c.513A>G p.V171= Synonymous 3/21 - 1
3-178917639-G-A c.514G>A p.E172K Missense 3/21 - 6
3-178917639-G-C c.514G>C p.E172Q Missense 3/21 - 2
3-178917639-G-T c.514G>T p.E172* Nonsense 3/21 - 3
3-178917641-A-C c.516A>C p.E172D Missense 3/21 - 1
3-178917641-A-G c.516A>G p.E172= Synonymous 3/21 - 1
3-178917641-A-T c.516A>T p.E172D Missense 3/21 - 1
3-178917642-T-A c.517T>A p.S173T Missense 3/21 - 1
3-178917642-T-C c.517T>C p.S173P Missense 3/21 - 2
3-178917642-TC-AA c.517_518delinsAA p.S173N Missense 3/21 - 1
3-178917642-T-G c.517T>G p.S173A Missense 3/21 - 4
3-178917643-C-A c.518C>A p.S173Y Missense 3/21 - 3
3-178917643-C-T c.518C>T p.S173F Missense 3/21 - 2
3-178917644-T-A c.519T>A p.S173= Synonymous 3/21 - 1
3-178917644-T-C c.519T>C p.S173= Synonymous 3/21 - 1
3-178917644-T-G c.519T>G p.S173= Synonymous 3/21 - 1
3-178917644-T-TC c.519_520insC p.S174Lfs*10 Frameshift 3/21 - 1
3-178917643-C-CT c.520dup p.S174Ffs*10 Frameshift 3/21 - 1
3-178917645-T-A c.520T>A p.S174T Missense 3/21 - 1
3-178917645-T-C c.520T>C p.S174P Missense 3/21 - 1
3-178917645-TC-AG c.520_521delinsAG p.S174R Missense 3/21 - 1
3-178917645-T-G c.520T>G p.S174A Missense 3/21 - 1
3-178917646-C-A c.521C>A p.S174* Nonsense 3/21 - 2
3-178917646-C-G c.521C>G p.S174* Nonsense 3/21 - 1
3-178917646-C-T c.521C>T p.S174L Missense 3/21 - 1
3-178917647-A-C c.522A>C p.S174= Synonymous 3/21 - 1
3-178917647-A-G c.522A>G p.S174= Synonymous 3/21 - 2
3-178917647-A-T c.522A>T p.S174= Synonymous 3/21 - 1
3-178917648-C-A c.523C>A p.P175T Missense 3/21 - 2
3-178917648-C-G c.523C>G p.P175A Missense 3/21 - 4
3-178917648-C-T c.523C>T p.P175S Missense 3/21 - 7
3-178917649-C-A c.524C>A p.P175Q Missense 3/21 - 2
3-178917649-C-G c.524C>G p.P175R Missense 3/21 - 1
3-178917649-C-T c.524C>T p.P175L Missense 3/21 - 3
3-178917651-G-A c.526G>A p.E176K Missense 3/21 - 3
3-178917651-G-C c.526G>C p.E176Q Missense 3/21 - 2
3-178917653-A-G c.528A>G p.E176= Synonymous 3/21 - 2
3-178917654-TT-GC c.529_530delinsGC p.L177A Missense 3/21 - 1
3-178917653-A-AT c.530dup p.L177Ffs*7 Frameshift 3/21 - 1
3-178917655-T-C c.530T>C p.L177S Missense 3/21 - 1
3-178917655-T-G c.530T>G p.L177W Missense 3/21 - 1
3-178917656-G-A c.531G>A p.L177= Synonymous 3/21 - 1
3-178917656-G-C c.531G>C p.L177F Missense 3/21 - 1
3-178917656-G-T c.531G>T p.L177F Missense 3/21 - 1
3-178917657-C-A c.532C>A p.P178T Missense 3/21 - 1
3-178917657-C-G c.532C>G p.P178A Missense 3/21 - 2
3-178917657-C-T c.532C>T p.P178S Missense 3/21 - 3
3-178917656-G-GC c.533dup p.H180Afs*4 Frameshift 3/21 - 1
3-178917658-C-A c.533C>A p.P178Q Missense 3/21 - 1
3-178917658-C-T c.533C>T p.P178L Missense 3/21 - 3
3-178917659-A-C c.534A>C p.P178= Synonymous 3/21 - 3
3-178917659-A-G c.534A>G p.P178= Synonymous 3/21 - 5
3-178917659-A-T c.534A>T p.P178= Synonymous 3/21 - 3
3-178917660-AA-GC c.535_536delinsGC p.K179A Missense 3/21 - 42
3-178917660-AAG-GAC c.535_537delinsGAC p.K179D Missense 3/21 - 5
3-178917660-A-G c.535A>G p.K179E Missense 3/21 - 6
3-178917661-A-C c.536A>C p.K179T Missense 3/21 - 1
3-178917661-A-G c.536A>G p.K179R Missense 3/21 - 6
3-178917661-AG-TC c.536_537delinsTC p.K179I Missense 3/21 - 1
3-178917661-A-T c.536A>T p.K179M Missense 3/21 - 94
3-178917662-G-C c.537G>C p.K179N Missense 3/21 - 1
3-178917662-G-T c.537G>T p.K179N Missense 3/21 - 1
3-178917663-C-A c.538C>A p.H180N Missense 3/21 - 1
3-178917663-CA-GC c.538_539delinsGC p.H180A Missense 3/21 - 1
3-178917663-C-G c.538C>G p.H180D Missense 3/21 - 2
3-178917663-C-T c.538C>T p.H180Y Missense 3/21 - 2
3-178917665-C-A c.540C>A p.H180Q Missense 3/21 - 3
3-178917666-A-C c.541A>C p.I181L Missense 3/21 - 1
3-178917666-A-G c.541A>G p.I181V Missense 3/21 - 1
3-178917666-A-T c.541A>T p.I181L Missense 3/21 - 1
3-178917667-T-C c.542T>C p.I181T Missense 3/21 - 1
3-178917668-A-C c.543A>C p.I181= Synonymous 3/21 - 1
3-178917668-A-G c.543A>G p.I181M Missense 3/21 - 3
3-178917668-A-T c.543A>T p.I181= Synonymous 3/21 - 1
3-178917668-TATA-T c.543_545del p.Y182del InFrameDeletion 3/21 - 1
3-178917669-T-C c.544T>C p.Y182H Missense 3/21 - 7
3-178917669-T-G c.544T>G p.Y182D Missense 3/21 - 1
3-178917670-A-C c.545A>C p.Y182S Missense 3/21 - 1
3-178917670-A-G c.545A>G p.Y182C Missense 3/21 - 2
3-178917670-A-T c.545A>T p.Y182F Missense 3/21 - 2
3-178917670-TATAATAAA-T c.545_552del p.Y182Ffs*3 Frameshift 3/21 - 1
3-178917671-T-A c.546T>A p.Y182* Nonsense 3/21 - 1
3-178917671-T-C c.546T>C p.Y182= Synonymous 3/21 - 1
3-178917671-T-G c.546T>G p.Y182* Nonsense 3/21 - 1
3-178917673-A-G c.548A>G p.N183S Missense 3/21 - 3
3-178917673-A-T c.548A>T p.N183I Missense 3/21 - 1
3-178917674-T-A c.549T>A p.N183K Missense 3/21 - 2
3-178917674-T-G c.549T>G p.N183K Missense 3/21 - 2
3-178917675-A-G c.550A>G p.K184E Missense 3/21 - 2
3-178917676-A-C c.551A>C p.K184T Missense 3/21 - 1
3-178917676-A-G c.551A>G p.K184R Missense 3/21 - 1
3-178917676-A-T c.551A>T p.K184I Missense 3/21 - 1
3-178917677-A-G c.552A>G p.K184= Synonymous 3/21 - 3
3-178917678-T-C c.553T>C p.L185= Synonymous 3/21 - 1
3-178917678-TT-CC c.553_554delinsCC p.L185P Missense 3/21 - 1
3-178917680-A-G c.555A>G p.L185= Synonymous 3/21 - 3
3-178917681-G-A c.556G>A p.D186N Missense 3/21 - 5
3-178917681-G-C c.556G>C p.D186H Missense 3/21 - 3
3-178917681-G-T c.556G>T p.D186Y Missense 3/21 - 1
3-178917682-A-T c.557A>T p.D186V Missense 3/21 - 1
3-178917683-T-A c.558T>A p.D186E Missense 3/21 - 1
3-178917684-AA-GC c.559_560delinsGC p.K187A Missense 3/21 - 1
3-178917685-AA-TG c.560_561delinsTG p.K187M Missense 3/21 - 2
3-178917685-A-G c.560A>G p.K187R Missense 3/21 - 2
3-178917683-TA-T c.561del p.Q189Kfs*2 Frameshift 3/21 - 1
3-178917686-A-C c.561A>C p.K187N Missense 3/21 - 1
3-178917686-A-G c.561A>G p.K187= Synonymous 3/21 - 2
3-178917686-A-T c.561A>T p.K187N Missense 3/21 - 1
3-178917687-G-A c.562G>A p.G188R Missense 3/21 - 2
3-178917687-G-C c.562G>C p.G188R Missense 3/21 - 1
3-178917687-G-T c.562G>T p.G188W Missense 3/21 - 1
3-178917688-G-A c.562+1G>A - IntronicSNV - 3/20 3
3-178917689-T-A c.562+2T>A - IntronicSNV - 3/20 1
3-178917692-G-A c.562+5G>A - IntronicSNV - 3/20 1
3-178917699-A-G c.562+12A>G - IntronicSNV - 3/20 1
3-178917710-C-A c.562+23C>A - IntronicSNV - 3/20 1
3-178917735-C-T c.562+48C>T - IntronicSNV - 3/20 1
3-178917741-G-T c.562+54G>T - IntronicSNV - 3/20 1
3-178917745-C-T c.562+58C>T - IntronicSNV - 3/20 1
3-178917749-A-T c.562+62A>T - IntronicSNV - 3/20 1
3-178917751-C-T c.562+64C>T - IntronicSNV - 3/20 1
3-178917755-G-T c.562+68G>T - IntronicSNV - 3/20 1
3-178917762-CTTTT-C c.562+85_562+88del - IntronicDeletion - 3/20 1
3-178917762-CTT-C c.562+87_562+88del - IntronicDeletion - 3/20 2
3-178917762-C-CT c.562+88dup - IntronicInsertion - 3/20 1
3-178917762-CT-C c.562+88del - IntronicDeletion - 3/20 3
3-178918588-G-A c.563-490G>A - IntronicSNV - 3/20 1
3-178919078-G-A c.563G>A p.G188E Missense 4/21 - 1
3-178919078-G-C c.563G>C p.G188A Missense 4/21 - 1
3-178919078-GG-AC c.563_564delinsAC p.G188D Missense 4/21 - 1
3-178919078-G-T c.563G>T p.G188V Missense 4/21 - 2
3-178919079-G-A c.564G>A p.G188= Synonymous 4/21 - 1
3-178919080-C-A c.565C>A p.Q189K Missense 4/21 - 3
3-178919080-C-T c.565C>T p.Q189* Nonsense 4/21 - 2
3-178919083-A-G c.568A>G p.I190V Missense 4/21 - 1
3-178919083-AT-GA c.568_569delinsGA p.I190E Missense 4/21 - 1
3-178919084-T-A c.569T>A p.I190K Missense 4/21 - 1
3-178919085-A-C c.570A>C p.I190= Synonymous 4/21 - 1
3-178919085-A-T c.570A>T p.I190= Synonymous 4/21 - 2
3-178919086-A-C c.571A>C p.I191L Missense 4/21 - 1
3-178919087-T-C c.572T>C p.I191T Missense 4/21 - 2
3-178919079-GCAAATAATAGTGGTGATCTGGGTAATAGTTTCTC-G c.573_606del p.I191Mfs*8 Frameshift 4/21 - 1
3-178919088-A-G c.573A>G p.I191M Missense 4/21 - 1
3-178919089-G-A c.574G>A p.V192M Missense 4/21 - 1
3-178919089-G-T c.574G>T p.V192L Missense 4/21 - 1
3-178919090-T-A c.575T>A p.V192E Missense 4/21 - 1
3-178919090-T-G c.575T>G p.V192G Missense 4/21 - 1
3-178919091-G-A c.576G>A p.V192= Synonymous 4/21 - 1
3-178919091-G-C c.576G>C p.V192= Synonymous 4/21 - 2
3-178919092-G-A c.577G>A p.V193M Missense 4/21 - 4
3-178919092-G-T c.577G>T p.V193L Missense 4/21 - 1
3-178919093-T-C c.578T>C p.V193A Missense 4/21 - 2
3-178919094-G-A c.579G>A p.V193= Synonymous 4/21 - 2
3-178919094-G-C c.579G>C p.V193= Synonymous 4/21 - 1
3-178919094-G-T c.579G>T p.V193= Synonymous 4/21 - 1
3-178919095-A-C c.580A>C p.I194L Missense 4/21 - 2
3-178919096-T-A c.581T>A p.I194N Missense 4/21 - 1
3-178919096-T-C c.581T>C p.I194T Missense 4/21 - 2
3-178919096-T-G c.581T>G p.I194S Missense 4/21 - 1
3-178919097-C-A c.582C>A p.I194= Synonymous 4/21 - 1
3-178919097-C-G c.582C>G p.I194M Missense 4/21 - 1
3-178919099-G-A c.584G>A p.W195* Nonsense 4/21 - 1
3-178919101-G-A c.586G>A p.V196I Missense 4/21 - 5
3-178919101-G-T c.586G>T p.V196L Missense 4/21 - 1
3-178919102-T-A c.587T>A p.V196E Missense 4/21 - 1
3-178919102-T-C c.587T>C p.V196A Missense 4/21 - 1
3-178919104-A-G c.589A>G p.I197V Missense 4/21 - 1
3-178919105-T-C c.590T>C p.I197T Missense 4/21 - 2
3-178919105-T-G c.590T>G p.I197R Missense 4/21 - 1
3-178919106-A-G c.591A>G p.I197M Missense 4/21 - 2
3-178919107-AG-A c.592del p.V198Ffs*12 Frameshift 4/21 - 1
3-178919107-G-T c.592G>T p.V198F Missense 4/21 - 2
3-178919107-GTT-ATG c.592_594delinsATG p.V198M Missense 4/21 - 1
3-178919108-T-G c.593T>G p.V198G Missense 4/21 - 1
3-178919109-T-A c.594T>A p.V198= Synonymous 4/21 - 1
3-178919110-T-C c.595T>C p.S199P Missense 4/21 - 1
3-178919110-TC-AA c.595_596delinsAA p.S199N Missense 4/21 - 1
3-178919110-TCT-GAG c.595_597delinsGAG p.S199E Missense 4/21 - 1
3-178919110-T-G c.595T>G p.S199A Missense 4/21 - 2
3-178919111-C-A c.596C>A p.S199Y Missense 4/21 - 2
3-178919111-C-G c.596C>G p.S199C Missense 4/21 - 1
3-178919111-C-T c.596C>T p.S199F Missense 4/21 - 2
3-178919113-C-A c.598C>A p.P200T Missense 4/21 - 1
3-178919113-C-G c.598C>G p.P200A Missense 4/21 - 1
3-178919113-C-T c.598C>T p.P200S Missense 4/21 - 2
3-178919114-C-A c.599C>A p.P200Q Missense 4/21 - 1
3-178919115-A-C c.600A>C p.P200= Synonymous 4/21 - 3
3-178919115-A-G c.600A>G p.P200= Synonymous 4/21 - 4
3-178919115-A-T c.600A>T p.P200= Synonymous 4/21 - 3
3-178919116-AA-GC c.601_602delinsGC p.N201A Missense 4/21 - 1
3-178919116-A-G c.601A>G p.N201D Missense 4/21 - 1
3-178919114-CA-C c.602del p.N201Ifs*9 Frameshift 4/21 - 1
3-178919114-C-CA c.602dup p.N201Kfs*2 Frameshift 4/21 - 1
3-178919117-A-G c.602A>G p.N201S Missense 4/21 - 2
3-178919117-A-AT c.603dup p.N202* Nonsense 4/21 - 1
3-178919118-T-C c.603T>C p.N201= Synonymous 4/21 - 1
3-178919119-A-G c.604A>G p.N202D Missense 4/21 - 1
3-178919120-A-C c.605A>C p.N202T Missense 4/21 - 1
3-178919120-A-G c.605A>G p.N202S Missense 4/21 - 3
3-178919120-A-T c.605A>T p.N202I Missense 4/21 - 1
3-178919122-G-A c.607G>A p.D203N Missense 4/21 - 2
3-178919122-G-C c.607G>C p.D203H Missense 4/21 - 1
3-178919122-G-T c.607G>T p.D203Y Missense 4/21 - 1
3-178919122-G-GA c.608dup p.D203Efs*12 Frameshift 4/21 - 1
3-178919123-A-C c.608A>C p.D203A Missense 4/21 - 1
3-178919123-A-G c.608A>G p.D203G Missense 4/21 - 2
3-178919124-C-A c.609C>A p.D203E Missense 4/21 - 2
3-178919124-C-G c.609C>G p.D203E Missense 4/21 - 1
3-178919124-C-T c.609C>T p.D203= Synonymous 4/21 - 1
3-178919125-AA-GC c.610_611delinsGC p.K204A Missense 4/21 - 1
3-178919125-A-G c.610A>G p.K204E Missense 4/21 - 2
3-178919126-A-T c.611A>T p.K204M Missense 4/21 - 2
3-178919127-G-A c.612G>A p.K204= Synonymous 4/21 - 2
3-178919127-G-C c.612G>C p.K204N Missense 4/21 - 2
3-178919127-G-T c.612G>T p.K204N Missense 4/21 - 3
3-178919128-C-A c.613C>A p.Q205K Missense 4/21 - 1
3-178919128-C-G c.613C>G p.Q205E Missense 4/21 - 2
3-178919129-A-G c.614A>G p.Q205R Missense 4/21 - 2
3-178919129-A-T c.614A>T p.Q205L Missense 4/21 - 10
3-178919130-G-A c.615G>A p.Q205= Synonymous 4/21 - 1
3-178919131-AA-GC c.616_617delinsGC p.K206A Missense 4/21 - 1
3-178919132-A-G c.617A>G p.K206R Missense 4/21 - 2
3-178919132-AG-TC c.617_618delinsTC p.K206I Missense 4/21 - 1
3-178919133-AG-A c.618del p.K206Nfs*4 Frameshift 4/21 - 1
3-178919133-G-C c.618G>C p.K206N Missense 4/21 - 2
3-178919135-A-G c.620A>G p.Y207C Missense 4/21 - 1
3-178919135-A-T c.620A>T p.Y207F Missense 4/21 - 2
3-178919136-T-A c.621T>A p.Y207* Nonsense 4/21 - 1
3-178919136-T-G c.621T>G p.Y207* Nonsense 4/21 - 1
3-178919137-AC-GA c.622_623delinsGA p.T208D Missense 4/21 - 15
3-178919138-C-A c.623C>A p.T208N Missense 4/21 - 1
3-178919138-C-G c.623C>G p.T208S Missense 4/21 - 2
3-178919138-C-T c.623C>T p.T208I Missense 4/21 - 2
3-178919138-CT-TG c.623_624delinsTG p.T208M Missense 4/21 - 1
3-178919139-T-A c.624T>A p.T208= Synonymous 4/21 - 1
3-178919139-T-C c.624T>C p.T208= Synonymous 4/21 - 1
3-178919140-C-A c.625C>A p.L209M Missense 4/21 - 1
3-178919140-C-G c.625C>G p.L209V Missense 4/21 - 1
3-178919140-CT-GC c.625_626delinsGC p.L209A Missense 4/21 - 1
3-178919141-T-C c.626T>C p.L209P Missense 4/21 - 1
3-178919140-C-T c.625C>T p.L209= Synonymous 4/21 - 4
3-178919142-G-A c.627G>A p.L209= Synonymous 4/21 - 4
3-178919142-G-C c.627G>C p.L209= Synonymous 4/21 - 1
3-178919142-G-T c.627G>T p.L209= Synonymous 4/21 - 3
3-178919143-AA-GC c.628_629delinsGC p.K210A Missense 4/21 - 1
3-178919143-A-G c.628A>G p.K210E Missense 4/21 - 1
3-178919143-A-T c.628A>T p.K210* Nonsense 4/21 - 1
3-178919144-A-G c.629A>G p.K210R Missense 4/21 - 3
3-178919144-A-T c.629A>T p.K210I Missense 4/21 - 1
3-178919146-A-G c.631A>G p.I211V Missense 4/21 - 1
3-178919146-AT-GC c.631_632delinsGC p.I211A Missense 4/21 - 1
3-178919147-T-C c.632T>C p.I211T Missense 4/21 - 1
3-178919147-T-G c.632T>G p.I211S Missense 4/21 - 1
3-178919148-C-A c.633C>A p.I211= Synonymous 4/21 - 2
3-178919148-C-T c.633C>T p.I211= Synonymous 4/21 - 2
3-178919149-AAC-GAG c.634_636delinsGAG p.N212E Missense 4/21 - 3
3-178919149-A-G c.634A>G p.N212D Missense 4/21 - 4
3-178919150-A-G c.635A>G p.N212S Missense 4/21 - 2
3-178919151-C-A c.636C>A p.N212K Missense 4/21 - 2
3-178919151-C-G c.636C>G p.N212K Missense 4/21 - 1
3-178919151-C-T c.636C>T p.N212= Synonymous 4/21 - 1
3-178919152-C-A c.637C>A p.H213N Missense 4/21 - 1
3-178919152-C-T c.637C>T p.H213Y Missense 4/21 - 5
3-178919153-A-C c.638A>C p.H213P Missense 4/21 - 1
3-178919153-A-G c.638A>G p.H213R Missense 4/21 - 1
3-178919154-T-A c.639T>A p.H213Q Missense 4/21 - 2
3-178919154-T-C c.639T>C p.H213= Synonymous 4/21 - 3
3-178919154-T-G c.639T>G p.H213Q Missense 4/21 - 1
3-178919155-G-A c.640G>A p.D214N Missense 4/21 - 1
3-178919155-G-T c.640G>T p.D214Y Missense 4/21 - 1
3-178919156-A-G c.641A>G p.D214G Missense 4/21 - 2
3-178919157-C-A c.642C>A p.D214E Missense 4/21 - 2
3-178919158-T-A c.643T>A p.C215S Missense 4/21 - 3
3-178919158-T-C c.643T>C p.C215R Missense 4/21 - 1
3-178919158-T-G c.643T>G p.C215G Missense 4/21 - 6
3-178919159-G-C c.644G>C p.C215S Missense 4/21 - 4
3-178919159-G-A c.644G>A p.C215Y Missense 4/21 - 3
3-178919159-G-T c.644G>T p.C215F Missense 4/21 - 1
3-178919161-G-A c.646G>A p.V216I Missense 4/21 - 3
3-178919161-G-C c.646G>C p.V216L Missense 4/21 - 1
3-178919161-G-T c.646G>T p.V216L Missense 4/21 - 1
3-178919161-GTA-ATG c.646_648delinsATG p.V216M Missense 4/21 - 3
3-178919162-T-A c.647T>A p.V216E Missense 4/21 - 1
3-178919162-T-C c.647T>C p.V216A Missense 4/21 - 1
3-178919162-T-G c.647T>G p.V216G Missense 4/21 - 2
3-178919163-A-C c.648A>C p.V216= Synonymous 4/21 - 2
3-178919163-A-G c.648A>G p.V216= Synonymous 4/21 - 2
3-178919163-A-T c.648A>T p.V216= Synonymous 4/21 - 2
3-178919164-C-A c.649C>A p.P217T Missense 4/21 - 2
3-178919164-CC-AA c.649_650delinsAA p.P217K Missense 4/21 - 1
3-178919164-C-G c.649C>G p.P217A Missense 4/21 - 2
3-178919164-C-T c.649C>T p.P217S Missense 4/21 - 2
3-178919165-C-A c.650C>A p.P217Q Missense 4/21 - 2
3-178919165-C-G c.650C>G p.P217R Missense 4/21 - 1
3-178919165-C-T c.650C>T p.P217L Missense 4/21 - 2
3-178919166-A-T c.651A>T p.P217= Synonymous 4/21 - 1
3-178919167-G-A c.652G>A p.E218K Missense 4/21 - 7
3-178919167-GA-AG c.652_653delinsAG p.E218R Missense 4/21 - 1
3-178919167-G-C c.652G>C p.E218Q Missense 4/21 - 1
3-178919167-G-T c.652G>T p.E218* Nonsense 4/21 - 1
3-178919168-A-C c.653A>C p.E218A Missense 4/21 - 2
3-178919168-A-G c.653A>G p.E218G Missense 4/21 - 1
3-178919170-C-A c.655C>A p.Q219K Missense 4/21 - 1
3-178919170-C-T c.655C>T p.Q219* Nonsense 4/21 - 6
3-178919171-A-G c.656A>G p.Q219R Missense 4/21 - 1
3-178919172-A-G c.657A>G p.Q219= Synonymous 4/21 - 2
3-178919173-G-A c.658G>A p.V220I Missense 4/21 - 1
3-178919174-T-C c.659T>C p.V220A Missense 4/21 - 3
3-178919176-A-C c.661A>C p.I221L Missense 4/21 - 1
3-178919176-A-T c.661A>T p.I221F Missense 4/21 - 1
3-178919177-T-C c.662T>C p.I221T Missense 4/21 - 1
3-178919178-T-A c.663T>A p.I221= Synonymous 4/21 - 1
3-178919178-T-C c.663T>C p.I221= Synonymous 4/21 - 1
3-178919179-G-A c.664G>A p.A222T Missense 4/21 - 2
3-178919180-C-A c.665C>A p.A222D Missense 4/21 - 2
3-178919180-C-G c.665C>G p.A222G Missense 4/21 - 2
3-178919180-C-T c.665C>T p.A222V Missense 4/21 - 6
3-178919181-T-A c.666T>A p.A222= Synonymous 4/21 - 1
3-178919181-T-C c.666T>C p.A222= Synonymous 4/21 - 1
3-178919181-T-G c.666T>G p.A222= Synonymous 4/21 - 1
3-178919182-G-A c.667G>A p.E223K Missense 4/21 - 4
3-178919182-G-C c.667G>C p.E223Q Missense 4/21 - 1
3-178919182-G-T c.667G>T p.E223* Nonsense 4/21 - 1
3-178919183-A-G c.668A>G p.E223G Missense 4/21 - 3
3-178919184-A-C c.669A>C p.E223D Missense 4/21 - 1
3-178919185-G-A c.670G>A p.A224T Missense 4/21 - 2
3-178919185-G-C c.670G>C p.A224P Missense 4/21 - 1
3-178919185-GC-CT c.670_671delinsCT p.A224L Missense 4/21 - 3
3-178919185-G-T c.670G>T p.A224S Missense 4/21 - 8
3-178919185-G-GC c.671dup p.I225Nfs*13 Frameshift 4/21 - 1
3-178919186-C-A c.671C>A p.A224E Missense 4/21 - 2
3-178919186-C-G c.671C>G p.A224G Missense 4/21 - 1
3-178919186-C-T c.671C>T p.A224V Missense 4/21 - 3
3-178919188-A-G c.673A>G p.I225V Missense 4/21 - 3
3-178919189-T-A c.674T>A p.I225N Missense 4/21 - 2
3-178919190-C-A c.675C>A p.I225= Synonymous 4/21 - 1
3-178919190-C-G c.675C>G p.I225M Missense 4/21 - 1
3-178919191-A-G c.676A>G p.R226G Missense 4/21 - 2
3-178919191-AG-GC c.676_677delinsGC p.R226A Missense 4/21 - 2
3-178919191-AGG-CAT c.676_678delinsCAT p.R226H Missense 4/21 - 2
3-178919191-AG-TA c.676_677delinsTA p.R226* Nonsense 4/21 - 1
3-178919192-G-A c.677G>A p.R226K Missense 4/21 - 5
3-178919192-G-C c.677G>C p.R226T Missense 4/21 - 1
3-178919192-G-T c.677G>T p.R226M Missense 4/21 - 1
3-178919191-A-C c.676A>C p.R226= Synonymous 4/21 - 2
3-178919191-AG-A c.678del p.T229Lfs*11 Frameshift 4/21 - 1
3-178919193-G-A c.678G>A p.R226= Synonymous 4/21 - 2
3-178919193-G-C c.678G>C p.R226S Missense 4/21 - 5
3-178919193-G-T c.678G>T p.R226S Missense 4/21 - 3
3-178919194-AA-GC c.679_680delinsGC p.K227A Missense 4/21 - 17
3-178919194-A-C c.679A>C p.K227Q Missense 4/21 - 2
3-178919194-A-G c.679A>G p.K227E Missense 4/21 - 22
3-178919195-A-G c.680A>G p.K227R Missense 4/21 - 1
3-178919197-A-G c.682A>G p.K228E Missense 4/21 - 1
3-178919198-AA-TG c.683_684delinsTG p.K228M Missense 4/21 - 1
3-178919198-A-G c.683A>G p.K228R Missense 4/21 - 1
3-178919199-A-C c.684A>C p.K228N Missense 4/21 - 1
3-178919199-A-T c.684A>T p.K228N Missense 4/21 - 1
3-178919193-GA-G c.685del p.T229Lfs*11 Frameshift 4/21 - 2
3-178919193-G-GA c.685dup p.T229Nfs*9 Frameshift 4/21 - 1
3-178919200-A-G c.685A>G p.T229A Missense 4/21 - 4
3-178919201-C-A c.686C>A p.T229N Missense 4/21 - 1
3-178919201-C-T c.686C>T p.T229I Missense 4/21 - 1
3-178919202-T-A c.687T>A p.T229= Synonymous 4/21 - 2
3-178919202-T-C c.687T>C p.T229= Synonymous 4/21 - 2
3-178919202-T-G c.687T>G p.T229= Synonymous 4/21 - 2
3-178919203-C-A c.688C>A p.R230= Synonymous 4/21 - 3
3-178919203-C-G c.688C>G p.R230G Missense 4/21 - 4
3-178919203-CG-GA c.688_689delinsGA p.R230E Missense 4/21 - 1
3-178919203-C-T c.688C>T p.R230* Nonsense 4/21 - 7
3-178919205-A-C c.690A>C p.R230= Synonymous 4/21 - 2
3-178919205-A-G c.690A>G p.R230= Synonymous 4/21 - 2
3-178919205-A-T c.690A>T p.R230= Synonymous 4/21 - 2
3-178919204-G-A c.689G>A p.R230Q Missense 4/21 - 2
3-178919204-G-C c.689G>C p.R230P Missense 4/21 - 1
3-178919204-G-T c.689G>T p.R230L Missense 4/21 - 2
3-178919206-A-G c.691A>G p.S231G Missense 4/21 - 1
3-178919206-AG-GC c.691_692delinsGC p.S231A Missense 4/21 - 4
3-178919206-AG-TT c.691_692delinsTT p.S231F Missense 4/21 - 1
3-178919206-AGT-TGA c.691_693delinsTGA p.S231* Nonsense 4/21 - 1
3-178919207-G-C c.692G>C p.S231T Missense 4/21 - 2
3-178919210-T-A c.695T>A p.M232K Missense 4/21 - 2
3-178919210-T-C c.695T>C p.M232T Missense 4/21 - 2
3-178919211-G-A c.696G>A p.M232I Missense 4/21 - 3
3-178919211-G-C c.696G>C p.M232I Missense 4/21 - 2
3-178919211-G-T c.696G>T p.M232I Missense 4/21 - 3
3-178919212-T-A c.697T>A p.L233M Missense 4/21 - 1
3-178919212-TT-AA c.697_698inv p.L233K Missense 4/21 - 2
3-178919212-TTG-ATC c.697_699delinsATC p.L233I Missense 4/21 - 1
3-178919213-T-A c.698T>A p.L233* Nonsense 4/21 - 1
3-178919214-G-A c.699G>A p.L233= Synonymous 4/21 - 1
3-178919215-C-A c.700C>A p.L234I Missense 4/21 - 2
3-178919215-C-T c.700C>T p.L234= Synonymous 4/21 - 3
3-178919215-CTA-TTT c.700_702delinsTTT p.L234F Missense 4/21 - 2
3-178919215-CT-GC c.700_701delinsGC p.L234A Missense 4/21 - 6
3-178919216-T-C c.701T>C p.L234P Missense 4/21 - 1
3-178919217-A-AC c.702_703insC p.S235Lfs*3 Frameshift 4/21 - 1
3-178919218-TC-AT c.703_704delinsAT p.S235I Missense 4/21 - 1
3-178919218-TC-GA c.703_704inv p.S235D Missense 4/21 - 1
3-178919218-T-G c.703T>G p.S235A Missense 4/21 - 4
3-178919219-C-A c.704C>A p.S235Y Missense 4/21 - 1
3-178919219-C-G c.704C>G p.S235C Missense 4/21 - 1
3-178919220-C-A c.705C>A p.S235= Synonymous 4/21 - 2
3-178919220-C-G c.705C>G p.S235= Synonymous 4/21 - 1
3-178919220-C-T c.705C>T p.S235= Synonymous 4/21 - 4
3-178919221-T-C c.706T>C p.S236P Missense 4/21 - 2
3-178919221-TC-CT c.706_707delinsCT p.S236L Missense 4/21 - 1
3-178919221-T-G c.706T>G p.S236A Missense 4/21 - 2
3-178919222-C-A c.707C>A p.S236Y Missense 4/21 - 2
3-178919222-C-G c.707C>G p.S236C Missense 4/21 - 1
3-178919222-C-T c.707C>T p.S236F Missense 4/21 - 1
3-178919223-T-A c.708T>A p.S236= Synonymous 4/21 - 1
3-178919224-G-A c.709G>A p.E237K Missense 4/21 - 1
3-178919224-G-C c.709G>C p.E237Q Missense 4/21 - 1
3-178919225-A-G c.710A>G p.E237G Missense 4/21 - 1
3-178919227-C-A c.712C>A p.Q238K Missense 4/21 - 3
3-178919227-CA-GC c.712_713delinsGC p.Q238A Missense 4/21 - 1
3-178919227-C-T c.712C>T p.Q238* Nonsense 4/21 - 1
3-178919228-A-G c.713A>G p.Q238R Missense 4/21 - 1
3-178919229-A-AT c.714_715insT p.L239Sfs*20 Frameshift 4/21 - 1
3-178919229-A-C c.714A>C p.Q238H Missense 4/21 - 3
3-178919229-A-T c.714A>T p.Q238H Missense 4/21 - 1
3-178919230-C-A c.715C>A p.L239I Missense 4/21 - 4
3-178919230-C-G c.715C>G p.L239V Missense 4/21 - 1
3-178919230-C-T c.715C>T p.L239= Synonymous 4/21 - 1
3-178919230-CTA-TTT c.715_717delinsTTT p.L239F Missense 4/21 - 1
3-178919230-CT-TC c.715_716delinsTC p.L239S Missense 4/21 - 1
3-178919231-T-A c.716T>A p.L239Q Missense 4/21 - 2
3-178919231-T-C c.716T>C p.L239P Missense 4/21 - 2
3-178919231-T-G c.716T>G p.L239R Missense 4/21 - 4
3-178919229-ACTAAAACT-A c.717_724del p.K240Cfs*16 Frameshift 4/21 - 1
3-178919232-A-C c.717A>C p.L239= Synonymous 4/21 - 1
3-178919233-A-C c.718A>C p.K240Q Missense 4/21 - 1
3-178919234-A-T c.719A>T p.K240I Missense 4/21 - 1
3-178919236-C-A c.721C>A p.L241I Missense 4/21 - 1
3-178919236-C-G c.721C>G p.L241V Missense 4/21 - 1
3-178919236-C-T c.721C>T p.L241F Missense 4/21 - 1
3-178919238-C-A c.723C>A p.L241= Synonymous 4/21 - 1
3-178919238-C-G c.723C>G p.L241= Synonymous 4/21 - 1
3-178919238-C-T c.723C>T p.L241= Synonymous 4/21 - 1
3-178919238-TC-T c.723del p.C242Vfs*3 Frameshift 4/21 - 1
3-178919239-T-A c.724T>A p.C242S Missense 4/21 - 2
3-178919239-T-C c.724T>C p.C242R Missense 4/21 - 3
3-178919239-TG-AC c.724_725delinsAC p.C242T Missense 4/21 - 11
3-178919240-G-C c.725G>C p.C242S Missense 4/21 - 3
3-178919240-G-A c.725G>A p.C242Y Missense 4/21 - 4
3-178919240-G-T c.725G>T p.C242F Missense 4/21 - 11
3-178919240-TGTG-T c.725_727del p.C242_V243delinsF MultiAAMissense 4/21 - 1
3-178919241-T-A c.726T>A p.C242* Nonsense 4/21 - 1
3-178919241-T-C c.726T>C p.C242= Synonymous 4/21 - 2
3-178919241-T-G c.726T>G p.C242W Missense 4/21 - 2
3-178919242-G-A c.727G>A p.V243I Missense 4/21 - 2
3-178919242-G-C c.727G>C p.V243L Missense 4/21 - 1
3-178919243-T-C c.728T>C p.V243A Missense 4/21 - 3
3-178919245-TT-CC c.730_731delinsCC p.L244P Missense 4/21 - 1
3-178919246-T-A c.731T>A p.L244* Nonsense 4/21 - 1
3-178919246-T-G c.731T>G p.L244* Nonsense 4/21 - 1
3-178919247-A-G c.732A>G p.L244= Synonymous 4/21 - 1
3-178919248-G-A c.733G>A p.E245K Missense 4/21 - 5
3-178919248-G-C c.733G>C p.E245Q Missense 4/21 - 4
3-178919248-G-T c.733G>T p.E245* Nonsense 4/21 - 3
3-178919249-A-C c.734A>C p.E245A Missense 4/21 - 1
3-178919251-T-C c.736T>C p.Y246H Missense 4/21 - 1
3-178919252-A-G c.737A>G p.Y246C Missense 4/21 - 2
3-178919254-C-A c.739C>A p.Q247K Missense 4/21 - 2
3-178919254-C-G c.739C>G p.Q247E Missense 4/21 - 1
3-178919254-C-T c.739C>T p.Q247* Nonsense 4/21 - 8
3-178919255-A-C c.740A>C p.Q247P Missense 4/21 - 1
3-178919255-A-G c.740A>G p.Q247R Missense 4/21 - 1
3-178919255-A-T c.740A>T p.Q247L Missense 4/21 - 1
3-178919256-G-GA c.741_742insA p.G248Rfs*11 Frameshift 4/21 - 2
3-178919257-G-A c.742G>A p.G248S Missense 4/21 - 3
3-178919257-G-C c.742G>C p.G248R Missense 4/21 - 2
3-178919257-GGC-TGA c.742_744delinsTGA p.G248* Nonsense 4/21 - 1
3-178919257-G-T c.742G>T p.G248C Missense 4/21 - 1
3-178919258-G-A c.743G>A p.G248D Missense 4/21 - 6
3-178919258-GC-AG c.743_744delinsAG p.G248E Missense 4/21 - 1
3-178919258-G-T c.743G>T p.G248V Missense 4/21 - 1
3-178919259-C-A c.744C>A p.G248= Synonymous 4/21 - 2
3-178919259-C-G c.744C>G p.G248= Synonymous 4/21 - 1
3-178919259-C-T c.744C>T p.G248= Synonymous 4/21 - 1
3-178919260-A-G c.745A>G p.K249E Missense 4/21 - 2
3-178919260-A-T c.745A>T p.K249* Nonsense 4/21 - 1
3-178919262-G-T c.747G>T p.K249N Missense 4/21 - 2
3-178919263-T-A c.748T>A p.Y250N Missense 4/21 - 1
3-178919263-T-C c.748T>C p.Y250H Missense 4/21 - 2
3-178919263-T-G c.748T>G p.Y250D Missense 4/21 - 2
3-178919264-A-C c.749A>C p.Y250S Missense 4/21 - 5
3-178919264-A-T c.749A>T p.Y250F Missense 4/21 - 9
3-178919266-A-C c.751A>C p.I251L Missense 4/21 - 1
3-178919266-ATT-TAA c.751_753delinsTAA p.I251* Nonsense 4/21 - 1
3-178919267-T-A c.752T>A p.I251N Missense 4/21 - 1
3-178919267-T-C c.752T>C p.I251T Missense 4/21 - 2
3-178919268-T-G c.753T>G p.I251M Missense 4/21 - 1
3-178919269-TT-CC c.754_755delinsCC p.L252P Missense 4/21 - 5
3-178919270-T-A c.755T>A p.L252* Nonsense 4/21 - 1
3-178919271-A-C c.756A>C p.L252F Missense 4/21 - 2
3-178919271-A-T c.756A>T p.L252F Missense 4/21 - 2
3-178919272-AAAAG-A c.757_760del p.K253Cfs*9 Frameshift 4/21 - 1
3-178919272-A-G c.757A>G p.K253E Missense 4/21 - 1
3-178919272-A-T c.757A>T p.K253* Nonsense 4/21 - 1
3-178919273-A-C c.758A>C p.K253T Missense 4/21 - 1
3-178919273-A-G c.758A>G p.K253R Missense 4/21 - 2
3-178919270-TA-T c.759del p.V254Cfs*9 Frameshift 4/21 - 1
3-178919274-A-C c.759A>C p.K253N Missense 4/21 - 1
3-178919274-A-T c.759A>T p.K253N Missense 4/21 - 1
3-178919275-G-A c.760G>A p.V254M Missense 4/21 - 1
3-178919277-G-A c.762G>A p.V254= Synonymous 4/21 - 1
3-178919278-T-C c.763T>C p.C255R Missense 4/21 - 1
3-178919278-TG-GC c.763_764delinsGC p.C255A Missense 4/21 - 1
3-178919279-G-A c.764G>A p.C255Y Missense 4/21 - 1
3-178919279-G-C c.764G>C p.C255S Missense 4/21 - 1
3-178919279-G-T c.764G>T p.C255F Missense 4/21 - 1
3-178919280-T-A c.765T>A p.C255* Nonsense 4/21 - 2
3-178919280-T-C c.765T>C p.C255= Synonymous 4/21 - 1
3-178919281-G-A c.766G>A p.G256R Missense 4/21 - 2
3-178919281-G-C c.766G>C p.G256R Missense 4/21 - 2
3-178919281-GGA-AGC c.766_768delinsAGC p.G256S Missense 4/21 - 1
3-178919281-G-T c.766G>T p.G256* Nonsense 4/21 - 1
3-178919282-G-A c.767G>A p.G256E Missense 4/21 - 3
3-178919282-G-C c.767G>C p.G256A Missense 4/21 - 1
3-178919282-G-T c.767G>T p.G256V Missense 4/21 - 1
3-178919284-T-G c.769T>G p.C257G Missense 4/21 - 1
3-178919284-TG-GC c.769_770delinsGC p.C257A Missense 4/21 - 3
3-178919285-G-A c.770G>A p.C257Y Missense 4/21 - 6
3-178919285-G-C c.770G>C p.C257S Missense 4/21 - 1
3-178919285-G-T c.770G>T p.C257F Missense 4/21 - 2
3-178919287-G-A c.772G>A p.D258N Missense 4/21 - 10
3-178919287-G-C c.772G>C p.D258H Missense 4/21 - 3
3-178919287-G-T c.772G>T p.D258Y Missense 4/21 - 2
3-178919288-A-C c.773A>C p.D258A Missense 4/21 - 3
3-178919288-A-G c.773A>G p.D258G Missense 4/21 - 2
3-178919288-A-T c.773A>T p.D258V Missense 4/21 - 1
3-178919289-T-A c.774T>A p.D258E Missense 4/21 - 1
3-178919289-T-C c.774T>C p.D258= Synonymous 4/21 - 1
3-178919290-G-A c.775G>A p.E259K Missense 4/21 - 1
3-178919290-G-T c.775G>T p.E259* Nonsense 4/21 - 3
3-178919291-A-C c.776A>C p.E259A Missense 4/21 - 1
3-178919292-A-C c.777A>C p.E259D Missense 4/21 - 3
3-178919292-A-T c.777A>T p.E259D Missense 4/21 - 4
3-178919293-T-A c.778T>A p.Y260N Missense 4/21 - 1
3-178919293-TA-GC c.778_779delinsGC p.Y260A Missense 4/21 - 1
3-178919294-A-G c.779A>G p.Y260C Missense 4/21 - 3
3-178919295-C-A c.780C>A p.Y260* Nonsense 4/21 - 1
3-178919295-C-T c.780C>T p.Y260= Synonymous 4/21 - 1
3-178919296-T-C c.781T>C p.F261L Missense 4/21 - 1
3-178919296-T-G c.781T>G p.F261V Missense 4/21 - 2
3-178919297-T-A c.782T>A p.F261Y Missense 4/21 - 2
3-178919298-C-A c.783C>A p.F261L Missense 4/21 - 3
3-178919299-C-A c.784C>A p.L262I Missense 4/21 - 1
3-178919300-T-A c.785T>A p.L262Q Missense 4/21 - 1
3-178919300-T-C c.785T>C p.L262P Missense 4/21 - 1
3-178919299-C-T c.784C>T p.L262= Synonymous 4/21 - 2
3-178919301-A-C c.786A>C p.L262= Synonymous 4/21 - 1
3-178919301-A-G c.786A>G p.L262= Synonymous 4/21 - 1
3-178919301-A-T c.786A>T p.L262= Synonymous 4/21 - 2
3-178919302-G-A c.787G>A p.E263K Missense 4/21 - 3
3-178919302-GA-TC c.787_788inv p.E263S Missense 4/21 - 1
3-178919302-G-C c.787G>C p.E263Q Missense 4/21 - 1
3-178919302-G-T c.787G>T p.E263* Nonsense 4/21 - 4
3-178919303-A-G c.788A>G p.E263G Missense 4/21 - 2
3-178919304-A-G c.789A>G p.E263= Synonymous 4/21 - 1
3-178919306-A-C c.791A>C p.K264T Missense 4/21 - 1
3-178919306-A-G c.791A>G p.K264R Missense 4/21 - 2
3-178919307-A-T c.792A>T p.K264N Missense 4/21 - 2
3-178919308-TA-GC c.793_794delinsGC p.Y265A Missense 4/21 - 1
3-178919308-TAT-GAG c.793_795delinsGAG p.Y265E Missense 4/21 - 1
3-178919308-T-C c.793T>C p.Y265H Missense 4/21 - 1
3-178919309-A-G c.794A>G p.Y265C Missense 4/21 - 1
3-178919311-C-A c.796C>A p.P266T Missense 4/21 - 3
3-178919311-C-G c.796C>G p.P266A Missense 4/21 - 1
3-178919311-C-T c.796C>T p.P266S Missense 4/21 - 3
3-178919312-C-A c.797C>A p.P266H Missense 4/21 - 3
3-178919312-C-T c.797C>T p.P266L Missense 4/21 - 4
3-178919313-T-A c.798T>A p.P266= Synonymous 4/21 - 2
3-178919313-T-C c.798T>C p.P266= Synonymous 4/21 - 2
3-178919313-T-G c.798T>G p.P266= Synonymous 4/21 - 1
3-178919314-C-A c.799C>A p.L267M Missense 4/21 - 1
3-178919314-C-T c.799C>T p.L267= Synonymous 4/21 - 3
3-178919314-CTG-GAC c.799_801delinsGAC p.L267D Missense 4/21 - 1
3-178919315-T-C c.800T>C p.L267P Missense 4/21 - 1
3-178919315-T-G c.800T>G p.L267R Missense 4/21 - 2
3-178919316-G-A c.801G>A p.L267= Synonymous 4/21 - 1
3-178919316-G-C c.801G>C p.L267= Synonymous 4/21 - 2
3-178919316-G-T c.801G>T p.L267= Synonymous 4/21 - 1
3-178919317-A-G c.802A>G p.S268G Missense 4/21 - 2
3-178919317-AG-TT c.802_803delinsTT p.S268F Missense 4/21 - 1
3-178919317-A-T c.802A>T p.S268C Missense 4/21 - 1
3-178919318-G-C c.803G>C p.S268T Missense 4/21 - 1
3-178919319-T-C c.804T>C p.S268= Synonymous 4/21 - 2
3-178919320-C-A c.805C>A p.Q269K Missense 4/21 - 6
3-178919320-C-T c.805C>T p.Q269* Nonsense 4/21 - 2
3-178919321-A-C c.806A>C p.Q269P Missense 4/21 - 4
3-178919321-A-G c.806A>G p.Q269R Missense 4/21 - 2
3-178919321-A-T c.806A>T p.Q269L Missense 4/21 - 1
3-178919322-G-A c.807G>A p.Q269= Synonymous 4/21 - 1
3-178919322-G-C c.807G>C p.Q269H Missense 4/21 - 1
3-178919322-G-T c.807G>T p.Q269H Missense 4/21 - 2
3-178919323-T-C c.808T>C p.Y270H Missense 4/21 - 1
3-178919323-T-G c.808T>G p.Y270D Missense 4/21 - 1
3-178919327-A-G c.812A>G p.K271R Missense 4/21 - 3
3-178919328-G-C c.813G>C p.K271N Missense 4/21 - 1
3-178919329-G-A c.813+1G>A - IntronicSNV - 4/20 1
3-178919331-G-A c.813+3G>A - IntronicSNV - 4/20 1
3-178919331-G-T c.813+3G>T - IntronicSNV - 4/20 1
3-178919337-C-A c.813+9C>A - IntronicSNV - 4/20 1
3-178919339-A-G c.813+11A>G - IntronicSNV - 4/20 2
3-178919339-A-T c.813+11A>T - IntronicSNV - 4/20 1
3-178919347-A-G c.813+19A>G - IntronicSNV - 4/20 1
3-178919373-A-T c.813+45A>T - IntronicSNV - 4/20 1
3-178919378-A-T c.813+50A>T - IntronicSNV - 4/20 1
3-178919379-T-C c.813+51T>C - IntronicSNV - 4/20 1
3-178919393-C-T c.813+65C>T - IntronicSNV - 4/20 1
3-178919395-G-T c.813+67G>T - IntronicSNV - 4/20 1
3-178919397-A-AT c.813+85dup - IntronicInsertion - 4/20 1
3-178919397-AT-A c.813+85del - IntronicDeletion - 4/20 2
3-178919413-T-G c.813+85T>G - IntronicSNV - 4/20 1
3-178921019-C-T c.814-313C>T - IntronicSNV - 4/20 1
3-178921158-G-A c.814-174G>A - IntronicSNV - 4/20 3
3-178921253-G-GTAAA c.814-77_814-76insAATA - IntronicInsertion - 4/20 4
3-178921311-C-T c.814-21C>T - IntronicSNV - 4/20 1
3-178921313-C-A c.814-19C>A - IntronicSNV - 4/20 1
3-178921313-C-T c.814-19C>T - IntronicSNV - 4/20 1
3-178921332-T-C c.814T>C p.Y272H Missense 5/21 - 3
3-178921333-A-G c.815A>G p.Y272C Missense 5/21 - 1
3-178921333-A-T c.815A>T p.Y272F Missense 5/21 - 1
3-178921333-A-AT c.816dup p.I273Yfs*18 Frameshift 5/21 - 1
3-178921334-T-A c.816T>A p.Y272* Nonsense 5/21 - 5
3-178921334-T-C c.816T>C p.Y272= Synonymous 5/21 - 3
3-178921334-T-G c.816T>G p.Y272* Nonsense 5/21 - 4
3-178921335-A-G c.817A>G p.I273V Missense 5/21 - 6
3-178921336-T-C c.818T>C p.I273T Missense 5/21 - 3
3-178921337-A-C c.819A>C p.I273= Synonymous 5/21 - 1
3-178921337-A-G c.819A>G p.I273M Missense 5/21 - 1
3-178921338-AGA-CAT c.820_822delinsCAT p.R274H Missense 5/21 - 7
3-178921338-AG-CA c.820_821delinsCA p.R274Q Missense 5/21 - 2
3-178921338-AG-GC c.820_821delinsGC p.R274A Missense 5/21 - 7
3-178921339-G-A c.821G>A p.R274K Missense 5/21 - 11
3-178921339-G-C c.821G>C p.R274T Missense 5/21 - 1
3-178921339-G-T c.821G>T p.R274I Missense 5/21 - 1
3-178921336-TAAG-T c.822_824del p.R274del InFrameDeletion 5/21 - 1
3-178921340-A-C c.822A>C p.R274S Missense 5/21 - 1
3-178921340-A-T c.822A>T p.R274S Missense 5/21 - 1
3-178921341-A-G c.823A>G p.S275G Missense 5/21 - 1
3-178921341-AG-CC c.823_824delinsCC p.S275P Missense 5/21 - 1
3-178921341-AG-GC c.823_824delinsGC p.S275A Missense 5/21 - 1
3-178921341-A-T c.823A>T p.S275C Missense 5/21 - 1
3-178921342-G-A c.824G>A p.S275N Missense 5/21 - 3
3-178921343-C-A c.825C>A p.S275R Missense 5/21 - 1
3-178921343-C-T c.825C>T p.S275= Synonymous 5/21 - 2
3-178921344-T-A c.826T>A p.C276S Missense 5/21 - 1
3-178921344-T-C c.826T>C p.C276R Missense 5/21 - 4
3-178921344-TG-AC c.826_827delinsAC p.C276T Missense 5/21 - 1
3-178921345-G-C c.827G>C p.C276S Missense 5/21 - 1
3-178921345-G-A c.827G>A p.C276Y Missense 5/21 - 1
3-178921346-T-C c.828T>C p.C276= Synonymous 5/21 - 1
3-178921347-A-G c.829A>G p.I277V Missense 5/21 - 3
3-178921347-AT-CC c.829_830delinsCC p.I277P Missense 5/21 - 1
3-178921348-T-C c.830T>C p.I277T Missense 5/21 - 1
3-178921348-T-G c.830T>G p.I277R Missense 5/21 - 2
3-178921348-T-TC c.830_831insC p.M278Nfs*13 Frameshift 5/21 - 1
3-178921349-A-G c.831A>G p.I277M Missense 5/21 - 1
3-178921350-A-G c.832A>G p.M278V Missense 5/21 - 2
3-178921350-A-T c.832A>T p.M278L Missense 5/21 - 1
3-178921351-T-C c.833T>C p.M278T Missense 5/21 - 1
3-178921351-T-G c.833T>G p.M278R Missense 5/21 - 1
3-178921352-G-A c.834G>A p.M278I Missense 5/21 - 3
3-178921352-G-C c.834G>C p.M278I Missense 5/21 - 1
3-178921352-G-T c.834G>T p.M278I Missense 5/21 - 1
3-178921353-C-A c.835C>A p.L279I Missense 5/21 - 8
3-178921353-C-T c.835C>T p.L279F Missense 5/21 - 5
3-178921354-TT-AA c.836_837inv p.L279Q Missense 5/21 - 1
3-178921356-G-T c.838G>T p.G280W Missense 5/21 - 3
3-178921357-G-A c.839G>A p.G280E Missense 5/21 - 5
3-178921357-G-C c.839G>C p.G280A Missense 5/21 - 3
3-178921357-G-T c.839G>T p.G280V Missense 5/21 - 2
3-178921358-G-T c.840G>T p.G280= Synonymous 5/21 - 1
3-178921359-A-G c.841A>G p.R281G Missense 5/21 - 4
3-178921359-AG-CA c.841_842delinsCA p.R281Q Missense 5/21 - 2
3-178921359-AG-CC c.841_842delinsCC p.R281P Missense 5/21 - 1
3-178921359-AGG-CAT c.841_843delinsCAT p.R281H Missense 5/21 - 2
3-178921359-AGG-TGT c.841_843delinsTGT p.R281C Missense 5/21 - 3
3-178921359-A-T c.841A>T p.R281W Missense 5/21 - 2
3-178921360-G-A c.842G>A p.R281K Missense 5/21 - 2
3-178921360-G-C c.842G>C p.R281T Missense 5/21 - 2
3-178921359-A-C c.841A>C p.R281= Synonymous 5/21 - 1
3-178921361-G-A c.843G>A p.R281= Synonymous 5/21 - 2
3-178921361-G-T c.843G>T p.R281S Missense 5/21 - 1
3-178921362-A-G c.844A>G p.M282V Missense 5/21 - 2
3-178921364-G-A c.846G>A p.M282I Missense 5/21 - 4
3-178921364-G-C c.846G>C p.M282I Missense 5/21 - 1
3-178921364-G-T c.846G>T p.M282I Missense 5/21 - 1
3-178921365-C-A c.847C>A p.P283T Missense 5/21 - 3
3-178921365-CC-GA c.847_848delinsGA p.P283D Missense 5/21 - 1
3-178921365-C-G c.847C>G p.P283A Missense 5/21 - 1
3-178921365-C-T c.847C>T p.P283S Missense 5/21 - 8
3-178921365-GCCCAATTTGATGT-G c.847_859del p.P283* Frameshift 5/21 - 1
3-178921366-C-A c.848C>A p.P283H Missense 5/21 - 2
3-178921366-C-G c.848C>G p.P283R Missense 5/21 - 1
3-178921364-G-GC c.849dup p.N284Qfs*7 Frameshift 5/21 - 2
3-178921367-C-A c.849C>A p.P283= Synonymous 5/21 - 3
3-178921367-C-T c.849C>T p.P283= Synonymous 5/21 - 1
3-178921368-A-G c.850A>G p.N284D Missense 5/21 - 2
3-178921369-A-C c.851A>C p.N284T Missense 5/21 - 1
3-178921369-A-G c.851A>G p.N284S Missense 5/21 - 1
3-178921370-T-A c.852T>A p.N284K Missense 5/21 - 1
3-178921371-T-A c.853T>A p.L285M Missense 5/21 - 1
3-178921371-T-C c.853T>C p.L285= Synonymous 5/21 - 1
3-178921371-TT-CC c.853_854delinsCC p.L285P Missense 5/21 - 1
3-178921372-T-C c.854T>C p.L285S Missense 5/21 - 4
3-178921372-T-TG c.855dup p.M286Dfs*5 Frameshift 5/21 - 1
3-178921373-G-T c.855G>T p.L285F Missense 5/21 - 1
3-178921374-A-G c.856A>G p.M286V Missense 5/21 - 2
3-178921375-T-C c.857T>C p.M286T Missense 5/21 - 3
3-178921376-G-A c.858G>A p.M286I Missense 5/21 - 1
3-178921376-G-C c.858G>C p.M286I Missense 5/21 - 1
3-178921376-G-T c.858G>T p.M286I Missense 5/21 - 1
3-178921377-T-C c.859T>C p.L287= Synonymous 5/21 - 2
3-178921379-G-A c.861G>A p.L287= Synonymous 5/21 - 1
3-178921378-T-C c.860T>C p.L287S Missense 5/21 - 1
3-178921379-G-C c.861G>C p.L287F Missense 5/21 - 1
3-178921379-G-T c.861G>T p.L287F Missense 5/21 - 1
3-178921380-A-G c.862A>G p.M288V Missense 5/21 - 3
3-178921381-T-C c.863T>C p.M288T Missense 5/21 - 2
3-178921382-G-A c.864G>A p.M288I Missense 5/21 - 1
3-178921383-G-A c.865G>A p.A289T Missense 5/21 - 6
3-178921383-G-T c.865G>T p.A289S Missense 5/21 - 1
3-178921384-C-A c.866C>A p.A289D Missense 5/21 - 2
3-178921384-C-G c.866C>G p.A289G Missense 5/21 - 2
3-178921384-C-T c.866C>T p.A289V Missense 5/21 - 12
3-178921384-CT-AG c.866_867inv p.A289E Missense 5/21 - 1
3-178921384-GC-G c.866del p.A289Vfs*30 Frameshift 5/21 - 1
3-178921385-T-A c.867T>A p.A289= Synonymous 5/21 - 1
3-178921385-T-C c.867T>C p.A289= Synonymous 5/21 - 1
3-178921385-T-G c.867T>G p.A289= Synonymous 5/21 - 1
3-178921386-AAA-TGT c.868_870delinsTGT p.K290C Missense 5/21 - 1
3-178921386-A-G c.868A>G p.K290E Missense 5/21 - 3
3-178921387-AA-TG c.869_870delinsTG p.K290M Missense 5/21 - 1
3-178921387-A-G c.869A>G p.K290R Missense 5/21 - 3
3-178921389-G-A c.871G>A p.E291K Missense 5/21 - 2
3-178921389-G-C c.871G>C p.E291Q Missense 5/21 - 1
3-178921389-G-T c.871G>T p.E291* Nonsense 5/21 - 1
3-178921390-A-C c.872A>C p.E291A Missense 5/21 - 2
3-178921390-A-T c.872A>T p.E291V Missense 5/21 - 2
3-178921393-G-A c.875G>A p.S292N Missense 5/21 - 3
3-178921393-G-C c.875G>C p.S292T Missense 5/21 - 1
3-178921393-G-T c.875G>T p.S292I Missense 5/21 - 2
3-178921394-C-A c.876C>A p.S292R Missense 5/21 - 1
3-178921394-C-T c.876C>T p.S292= Synonymous 5/21 - 1
3-178921395-C-A c.877C>A p.L293I Missense 5/21 - 1
3-178921395-C-G c.877C>G p.L293V Missense 5/21 - 2
3-178921395-C-T c.877C>T p.L293F Missense 5/21 - 1
3-178921395-CT-AC c.877_878delinsAC p.L293T Missense 5/21 - 1
3-178921396-T-A c.878T>A p.L293H Missense 5/21 - 2
3-178921396-T-G c.878T>G p.L293R Missense 5/21 - 2
3-178921399-A-G c.881A>G p.Y294C Missense 5/21 - 1
3-178921399-A-T c.881A>T p.Y294F Missense 5/21 - 1
3-178921400-T-C c.882T>C p.Y294= Synonymous 5/21 - 4
3-178921401-T-C c.883T>C p.S295P Missense 5/21 - 1
3-178921401-TC-AA c.883_884delinsAA p.S295N Missense 5/21 - 2
3-178921401-T-G c.883T>G p.S295A Missense 5/21 - 7
3-178921402-C-A c.884C>A p.S295Y Missense 5/21 - 5
3-178921402-C-T c.884C>T p.S295F Missense 5/21 - 12
3-178921403-T-C c.885T>C p.S295= Synonymous 5/21 - 1
3-178921404-C-A c.886C>A p.Q296K Missense 5/21 - 2
3-178921404-C-G c.886C>G p.Q296E Missense 5/21 - 5
3-178921404-C-T c.886C>T p.Q296* Nonsense 5/21 - 6
3-178921406-A-G c.888A>G p.Q296= Synonymous 5/21 - 3
3-178921407-C-A c.889C>A p.L297M Missense 5/21 - 1
3-178921407-C-G c.889C>G p.L297V Missense 5/21 - 1
3-178921407-CT-GC c.889_890delinsGC p.L297A Missense 5/21 - 1
3-178921408-T-C c.890T>C p.L297P Missense 5/21 - 1
3-178921407-C-T c.889C>T p.L297= Synonymous 5/21 - 2
3-178921409-G-A c.891G>A p.L297= Synonymous 5/21 - 3
3-178921409-G-C c.891G>C p.L297= Synonymous 5/21 - 1
3-178921409-G-T c.891G>T p.L297= Synonymous 5/21 - 1
3-178921410-C-A c.892C>A p.P298T Missense 5/21 - 3
3-178921410-C-T c.892C>T p.P298S Missense 5/21 - 5
3-178921411-C-A c.893C>A p.P298Q Missense 5/21 - 1
3-178921411-C-T c.893C>T p.P298L Missense 5/21 - 1
3-178921413-A-G c.895A>G p.M299V Missense 5/21 - 1
3-178921413-A-T c.895A>T p.M299L Missense 5/21 - 1
3-178921414-T-A c.896T>A p.M299K Missense 5/21 - 1
3-178921415-G-A c.897G>A p.M299I Missense 5/21 - 2
3-178921415-G-C c.897G>C p.M299I Missense 5/21 - 1
3-178921415-G-T c.897G>T p.M299I Missense 5/21 - 1
3-178921416-GA-AG c.898_899delinsAG p.D300S Missense 5/21 - 1
3-178921416-G-T c.898G>T p.D300Y Missense 5/21 - 1
3-178921417-A-T c.899A>T p.D300V Missense 5/21 - 2
3-178921418-C-A c.900C>A p.D300E Missense 5/21 - 28
3-178921418-C-G c.900C>G p.D300E Missense 5/21 - 26
3-178921419-T-A c.901T>A p.C301S Missense 5/21 - 3
3-178921420-G-A c.902G>A p.C301Y Missense 5/21 - 1
3-178921422-T-G c.904T>G p.F302V Missense 5/21 - 2
3-178921422-TT-GC c.904_905delinsGC p.F302A Missense 5/21 - 1
3-178921422-TTT-AAG c.904_906delinsAAG p.F302K Missense 5/21 - 1
3-178921423-T-C c.905T>C p.F302S Missense 5/21 - 3
3-178921423-T-G c.905T>G p.F302C Missense 5/21 - 1
3-178921425-ACA-TGT c.907_909inv p.T303C Missense 5/21 - 1
3-178921425-A-G c.907A>G p.T303A Missense 5/21 - 1
3-178921426-C-A c.908C>A p.T303K Missense 5/21 - 2
3-178921426-C-T c.908C>T p.T303I Missense 5/21 - 2
3-178921428-A-C c.910A>C p.M304L Missense 5/21 - 1
3-178921428-A-G c.910A>G p.M304V Missense 5/21 - 1
3-178921428-A-T c.910A>T p.M304L Missense 5/21 - 1
3-178921429-T-A c.911T>A p.M304K Missense 5/21 - 1
3-178921429-T-C c.911T>C p.M304T Missense 5/21 - 2
3-178921430-G-A c.912G>A p.M304I Missense 5/21 - 3
3-178921430-G-C c.912G>C p.M304I Missense 5/21 - 1
3-178921430-G-T c.912G>T p.M304I Missense 5/21 - 2
3-178921430-TG-T c.912del p.M304Ifs*15 Frameshift 5/21 - 1
3-178921431-C-A c.913C>A p.P305T Missense 5/21 - 2
3-178921431-C-G c.913C>G p.P305A Missense 5/21 - 1
3-178921431-C-T c.913C>T p.P305S Missense 5/21 - 3
3-178921432-C-A c.914C>A p.P305Q Missense 5/21 - 1
3-178921432-C-T c.914C>T p.P305L Missense 5/21 - 2
3-178921433-A-C c.915A>C p.P305= Synonymous 5/21 - 1
3-178921433-A-G c.915A>G p.P305= Synonymous 5/21 - 1
3-178921433-A-T c.915A>T p.P305= Synonymous 5/21 - 5
3-178921434-T-C c.916T>C p.S306P Missense 5/21 - 2
3-178921434-TC-CT c.916_917delinsCT p.S306L Missense 5/21 - 2
3-178921435-C-A c.917C>A p.S306Y Missense 5/21 - 1
3-178921435-C-T c.917C>T p.S306F Missense 5/21 - 1
3-178921436-T-A c.918T>A p.S306= Synonymous 5/21 - 1
3-178921436-T-C c.918T>C p.S306= Synonymous 5/21 - 1
3-178921436-T-G c.918T>G p.S306= Synonymous 5/21 - 1
3-178921437-TAT-AAG c.919_921delinsAAG p.Y307K Missense 5/21 - 1
3-178921437-TAT-GAG c.919_921delinsGAG p.Y307E Missense 5/21 - 1
3-178921437-T-G c.919T>G p.Y307D Missense 5/21 - 1
3-178921438-A-T c.920A>T p.Y307F Missense 5/21 - 1
3-178921439-T-G c.921T>G p.Y307* Nonsense 5/21 - 1
3-178921438-A-AT c.922dup p.S308Ffs*25 Frameshift 5/21 - 2
3-178921440-T-C c.922T>C p.S308P Missense 5/21 - 2
3-178921440-TC-GA c.922_923inv p.S308D Missense 5/21 - 1
3-178921440-T-G c.922T>G p.S308A Missense 5/21 - 3
3-178921441-C-A c.923C>A p.S308Y Missense 5/21 - 1
3-178921441-CC-AA c.923_924delinsAA p.S308* Nonsense 5/21 - 2
3-178921441-C-G c.923C>G p.S308C Missense 5/21 - 1
3-178921441-C-T c.923C>T p.S308F Missense 5/21 - 6
3-178921442-C-A c.924C>A p.S308= Synonymous 5/21 - 2
3-178921442-C-G c.924C>G p.S308= Synonymous 5/21 - 1
3-178921442-C-T c.924C>T p.S308= Synonymous 5/21 - 2
3-178921443-AGA-CAT c.925_927delinsCAT p.R309H Missense 5/21 - 2
3-178921443-AGA-TGT c.925_927delinsTGT p.R309C Missense 5/21 - 1
3-178921443-AG-CA c.925_926delinsCA p.R309Q Missense 5/21 - 1
3-178921443-A-T c.925A>T p.R309* Nonsense 5/21 - 1
3-178921444-G-A c.926G>A p.R309K Missense 5/21 - 3
3-178921444-G-T c.926G>T p.R309I Missense 5/21 - 2
3-178921446-C-A c.928C>A p.R310S Missense 5/21 - 2
3-178921446-C-G c.928C>G p.R310G Missense 5/21 - 1
3-178921446-CGC-TGA c.928_930delinsTGA p.R310* Nonsense 5/21 - 2
3-178921446-C-T c.928C>T p.R310C Missense 5/21 - 11
3-178921447-G-A c.929G>A p.R310H Missense 5/21 - 9
3-178921447-G-T c.929G>T p.R310L Missense 5/21 - 2
3-178921448-C-A c.930C>A p.R310= Synonymous 5/21 - 1
3-178921449-A-G c.931A>G p.I311V Missense 5/21 - 5
3-178921450-T-C c.932T>C p.I311T Missense 5/21 - 3
3-178921451-T-A c.933T>A p.I311= Synonymous 5/21 - 1
3-178921451-T-C c.933T>C p.I311= Synonymous 5/21 - 1
3-178921451-T-G c.933T>G p.I311M Missense 5/21 - 4
3-178921452-T-C c.934T>C p.S312P Missense 5/21 - 1
3-178921452-T-G c.934T>G p.S312A Missense 5/21 - 1
3-178921453-C-A c.935C>A p.S312Y Missense 5/21 - 2
3-178921453-C-G c.935C>G p.S312C Missense 5/21 - 2
3-178921453-C-T c.935C>T p.S312F Missense 5/21 - 1
3-178921454-C-A c.936C>A p.S312= Synonymous 5/21 - 1
3-178921455-A-T c.937A>T p.T313S Missense 5/21 - 1
3-178921456-AC-A c.938del p.T313Kfs*6 Frameshift 5/21 - 1
3-178921456-C-A c.938C>A p.T313K Missense 5/21 - 1
3-178921456-C-T c.938C>T p.T313I Missense 5/21 - 1
3-178921457-A-C c.939A>C p.T313= Synonymous 5/21 - 1
3-178921457-A-G c.939A>G p.T313= Synonymous 5/21 - 2
3-178921457-A-T c.939A>T p.T313= Synonymous 5/21 - 1
3-178921458-G-A c.940G>A p.A314T Missense 5/21 - 4
3-178921458-G-T c.940G>T p.A314S Missense 5/21 - 2
3-178921459-C-A c.941C>A p.A314D Missense 5/21 - 2
3-178921459-C-G c.941C>G p.A314G Missense 5/21 - 1
3-178921459-C-T c.941C>T p.A314V Missense 5/21 - 2
3-178921459-C-CT c.942dup p.T315Yfs*18 Frameshift 5/21 - 1
3-178921460-T-A c.942T>A p.A314= Synonymous 5/21 - 1
3-178921460-T-C c.942T>C p.A314= Synonymous 5/21 - 1
3-178921460-T-G c.942T>G p.A314= Synonymous 5/21 - 1
3-178921461-ACA-GAC c.943_945delinsGAC p.T315D Missense 5/21 - 1
3-178921461-AC-CT c.943_944delinsCT p.T315L Missense 5/21 - 1
3-178921461-AC-GT c.943_944inv p.T315V Missense 5/21 - 1
3-178921461-A-G c.943A>G p.T315A Missense 5/21 - 4
3-178921461-A-T c.943A>T p.T315S Missense 5/21 - 1
3-178921462-C-A c.944C>A p.T315K Missense 5/21 - 1
3-178921462-CA-TG c.944_945inv p.T315M Missense 5/21 - 2
3-178921462-C-T c.944C>T p.T315I Missense 5/21 - 253
3-178921460-TAC-T c.945_946del p.P316Ifs*16 Frameshift 5/21 - 1
3-178921463-A-C c.945A>C p.T315= Synonymous 5/21 - 1
3-178921463-A-G c.945A>G p.T315= Synonymous 5/21 - 2
3-178921463-A-T c.945A>T p.T315= Synonymous 5/21 - 1
3-178921464-C-A c.946C>A p.P316T Missense 5/21 - 6
3-178921464-C-T c.946C>T p.P316S Missense 5/21 - 1
3-178921465-C-A c.947C>A p.P316Q Missense 5/21 - 2
3-178921465-CA-AT c.947_948delinsAT p.P316H Missense 5/21 - 1
3-178921465-C-T c.947C>T p.P316L Missense 5/21 - 3
3-178921467-AT-A c.949del p.Y317Ifs*2 Frameshift 5/21 - 1
3-178921467-T-A c.949T>A p.Y317N Missense 5/21 - 1
3-178921467-T-C c.949T>C p.Y317H Missense 5/21 - 1
3-178921468-A-C c.950A>C p.Y317S Missense 5/21 - 1
3-178921468-A-T c.950A>T p.Y317F Missense 5/21 - 8
3-178921469-T-C c.951T>C p.Y317= Synonymous 5/21 - 1
3-178921469-T-TA c.952dup p.M318Nfs*15 Frameshift 5/21 - 1
3-178921470-A-G c.952A>G p.M318V Missense 5/21 - 1
3-178921470-A-T c.952A>T p.M318L Missense 5/21 - 1
3-178921469-TATG-T c.953_955del p.M318del InFrameDeletion 5/21 - 1
3-178921471-T-A c.953T>A p.M318K Missense 5/21 - 1
3-178921471-T-C c.953T>C p.M318T Missense 5/21 - 2
3-178921471-T-G c.953T>G p.M318R Missense 5/21 - 1
3-178921472-G-A c.954G>A p.M318I Missense 5/21 - 4
3-178921472-G-T c.954G>T p.M318I Missense 5/21 - 1
3-178921473-A-T c.955A>T p.N319Y Missense 5/21 - 1
3-178921474-A-C c.956A>C p.N319T Missense 5/21 - 1
3-178921474-A-T c.956A>T p.N319I Missense 5/21 - 1
3-178921475-T-A c.957T>A p.N319K Missense 5/21 - 1
3-178921475-T-G c.957T>G p.N319K Missense 5/21 - 1
3-178921476-G-A c.958G>A p.G320R Missense 5/21 - 4
3-178921476-G-C c.958G>C p.G320R Missense 5/21 - 1
3-178921476-GGA-TGG c.958_960delinsTGG p.G320W Missense 5/21 - 1
3-178921477-G-A c.959G>A p.G320E Missense 5/21 - 1
3-178921477-GA-AC c.959_960delinsAC p.G320D Missense 5/21 - 1
3-178921477-G-C c.959G>C p.G320A Missense 5/21 - 3
3-178921477-G-T c.959G>T p.G320V Missense 5/21 - 7
3-178921479-G-A c.961G>A p.E321K Missense 5/21 - 3
3-178921479-G-C c.961G>C p.E321Q Missense 5/21 - 2
3-178921479-G-T c.961G>T p.E321* Nonsense 5/21 - 1
3-178921481-A-C c.963A>C p.E321D Missense 5/21 - 4
3-178921481-A-T c.963A>T p.E321D Missense 5/21 - 3
3-178921479-GA-G c.964del p.T322Hfs*9 Frameshift 5/21 - 1
3-178921482-AC-GA c.964_965delinsGA p.T322E Missense 5/21 - 1
3-178921482-A-G c.964A>G p.T322A Missense 5/21 - 3
3-178921483-C-A c.965C>A p.T322K Missense 5/21 - 1
3-178921483-CA-AC c.965_966delinsAC p.T322N Missense 5/21 - 1
3-178921483-C-T c.965C>T p.T322I Missense 5/21 - 3
3-178921483-C-CA c.966dup p.S323Ifs*10 Frameshift 5/21 - 1
3-178921484-A-C c.966A>C p.T322= Synonymous 5/21 - 1
3-178921484-A-G c.966A>G p.T322= Synonymous 5/21 - 1
3-178921484-A-T c.966A>T p.T322= Synonymous 5/21 - 1
3-178921485-T-A c.967T>A p.S323T Missense 5/21 - 1
3-178921485-T-C c.967T>C p.S323P Missense 5/21 - 1
3-178921485-TC-AT c.967_968delinsAT p.S323I Missense 5/21 - 1
3-178921485-TC-CT c.967_968delinsCT p.S323L Missense 5/21 - 2
3-178921485-TC-GA c.967_968inv p.S323D Missense 5/21 - 1
3-178921485-T-G c.967T>G p.S323A Missense 5/21 - 1
3-178921486-C-A c.968C>A p.S323Y Missense 5/21 - 2
3-178921486-C-G c.968C>G p.S323C Missense 5/21 - 1
3-178921486-C-T c.968C>T p.S323F Missense 5/21 - 3
3-178921487-T-C c.969T>C p.S323= Synonymous 5/21 - 1
3-178921488-A-C c.970A>C p.T324P Missense 5/21 - 2
3-178921488-AC-GA c.970_971delinsGA p.T324E Missense 5/21 - 1
3-178921488-A-G c.970A>G p.T324A Missense 5/21 - 5
3-178921489-C-A c.971C>A p.T324K Missense 5/21 - 1
3-178921489-C-T c.971C>T p.T324I Missense 5/21 - 11
3-178921491-A-C c.973A>C p.K325Q Missense 5/21 - 1
3-178921491-A-T c.973A>T p.K325* Nonsense 5/21 - 1
3-178921492-A-G c.974A>G p.K325R Missense 5/21 - 1
3-178921492-A-T c.974A>T p.K325I Missense 5/21 - 1
3-178921493-A-C c.975A>C p.K325N Missense 5/21 - 1
3-178921493-A-G c.975A>G p.K325= Synonymous 5/21 - 3
3-178921493-A-T c.975A>T p.K325N Missense 5/21 - 1
3-178921494-TC-CG c.976_977delinsCG p.S326R Missense 5/21 - 1
3-178921494-TCC-GAG c.976_978delinsGAG p.S326E Missense 5/21 - 1
3-178921494-TC-GA c.976_977inv p.S326D Missense 5/21 - 1
3-178921494-T-G c.976T>G p.S326A Missense 5/21 - 2
3-178921495-C-A c.977C>A p.S326Y Missense 5/21 - 2
3-178921495-C-G c.977C>G p.S326C Missense 5/21 - 2
3-178921495-C-T c.977C>T p.S326F Missense 5/21 - 7
3-178921496-C-A c.978C>A p.S326= Synonymous 5/21 - 1
3-178921496-C-T c.978C>T p.S326= Synonymous 5/21 - 1
3-178921497-C-A c.979C>A p.L327I Missense 5/21 - 5
3-178921497-C-G c.979C>G p.L327V Missense 5/21 - 1
3-178921497-C-T c.979C>T p.L327F Missense 5/21 - 2
3-178921498-T-A c.980T>A p.L327H Missense 5/21 - 2
3-178921498-T-C c.980T>C p.L327P Missense 5/21 - 1
3-178921498-T-G c.980T>G p.L327R Missense 5/21 - 1
3-178921499-T-C c.981T>C p.L327= Synonymous 5/21 - 1
3-178921500-T-A c.982T>A p.W328R Missense 5/21 - 1
3-178921501-G-A c.983G>A p.W328* Nonsense 5/21 - 3
3-178921501-G-C c.983G>C p.W328S Missense 5/21 - 7
3-178921501-G-T c.983G>T p.W328L Missense 5/21 - 1
3-178921502-G-A c.984G>A p.W328* Nonsense 5/21 - 6
3-178921502-G-C c.984G>C p.W328C Missense 5/21 - 1
3-178921502-G-GA c.984_985insA p.V329Sfs*4 Frameshift 5/21 - 1
3-178921502-G-T c.984G>T p.W328C Missense 5/21 - 1
3-178921503-G-A c.985G>A p.V329I Missense 5/21 - 1
3-178921503-G-T c.985G>T p.V329F Missense 5/21 - 1
3-178921503-GTT-TAA c.985_987delinsTAA p.V329* Nonsense 5/21 - 1
3-178921504-T-C c.986T>C p.V329A Missense 5/21 - 1
3-178921506-A-G c.988A>G p.I330V Missense 5/21 - 2
3-178921505-TATA-T c.989_991del p.I330del InFrameDeletion 5/21 - 1
3-178921507-T-A c.989T>A p.I330K Missense 5/21 - 1
3-178921509-AAATAG-A c.991_995del p.N331Cfs*20 Frameshift 5/21 - 1
3-178921509-A-G c.991A>G p.N331D Missense 5/21 - 1
3-178921509-A-T c.991A>T p.N331Y Missense 5/21 - 1
3-178921510-A-C c.992A>C p.N331T Missense 5/21 - 1
3-178921510-A-G c.992A>G p.N331S Missense 5/21 - 1
3-178921512-A-AC c.994_995insC p.S332Tfs*21 Frameshift 5/21 - 1
3-178921512-A-G c.994A>G p.S332G Missense 5/21 - 1
3-178921512-AG-GC c.994_995delinsGC p.S332A Missense 5/21 - 3
3-178921512-AGT-TGA c.994_996delinsTGA p.S332* Nonsense 5/21 - 1
3-178921512-A-T c.994A>T p.S332C Missense 5/21 - 1
3-178921513-AG-A c.995del p.S332Mfs*5 Frameshift 5/21 - 1
3-178921513-G-A c.995G>A p.S332N Missense 5/21 - 2
3-178921513-G-T c.995G>T p.S332I Missense 5/21 - 2
3-178921512-A-C c.994A>C p.S332R Missense 5/21 - 2
3-178921514-T-A c.996T>A p.S332R Missense 5/21 - 5
3-178921514-T-G c.996T>G p.S332R Missense 5/21 - 2
3-178921515-G-A c.997G>A p.A333T Missense 5/21 - 2
3-178921515-GCA-TTT c.997_999delinsTTT p.A333F Missense 5/21 - 1
3-178921515-G-T c.997G>T p.A333S Missense 5/21 - 1
3-178921516-C-A c.998C>A p.A333E Missense 5/21 - 1
3-178921516-C-T c.998C>T p.A333V Missense 5/21 - 3
3-178921518-C-A c.1000C>A p.L334I Missense 5/21 - 2
3-178921518-C-T c.1000C>T p.L334F Missense 5/21 - 1
3-178921519-T-C c.1001T>C p.L334P Missense 5/21 - 1
3-178921519-TC-AA c.1001_1002delinsAA p.L334Q Missense 5/21 - 2
3-178921520-C-A c.1002C>A p.L334= Synonymous 5/21 - 5
3-178921520-C-CCAAAACAAGAACAGCCTTTGTAACCTTAGGGAGTGTAAGTATAGCAGG c.1002_1003insCAAAACAAGAACAGCCTTTGTAACCTTAGGGAGTGTAAGTATAGCAGG p.L334_R335insQNKNSLCNLRECKYSR InFrameInsertion 5/21 - 1
3-178921520-C-G c.1002C>G p.L334= Synonymous 5/21 - 4
3-178921520-C-T c.1002C>T p.L334= Synonymous 5/21 - 6
3-178921521-A-G c.1003A>G p.R335G Missense 5/21 - 9
3-178921521-AGA-TGG c.1003_1005delinsTGG p.R335W Missense 5/21 - 1
3-178921521-A-T c.1003A>T p.R335* Nonsense 5/21 - 5
3-178921522-G-A c.1004G>A p.R335K Missense 5/21 - 2
3-178921522-G-T c.1004G>T p.R335I Missense 5/21 - 1
3-178921523-A-C c.1005A>C p.R335S Missense 5/21 - 1
3-178921523-A-T c.1005A>T p.R335S Missense 5/21 - 1
3-178921524-A-AG c.1006_1007insG p.I336Sfs*17 Frameshift 5/21 - 1
3-178921524-A-G c.1006A>G p.I336V Missense 5/21 - 2
3-178921525-AT-A c.1007del p.I336Kfs*9 Frameshift 5/21 - 1
3-178921525-T-C c.1007T>C p.I336T Missense 5/21 - 2
3-178921528-A-G c.1010A>G p.K337R Missense 5/21 - 3
3-178921529-A-C c.1011A>C p.K337N Missense 5/21 - 5
3-178921529-A-T c.1011A>T p.K337N Missense 5/21 - 3
3-178921525-TA-T c.1012del p.I338Ffs*7 Frameshift 5/21 - 1
3-178921525-T-TA c.1012dup p.I338Nfs*15 Frameshift 5/21 - 1
3-178921530-A-G c.1012A>G p.I338V Missense 5/21 - 2
3-178921530-AT-GC c.1012_1013delinsGC p.I338A Missense 5/21 - 1
3-178921531-T-A c.1013T>A p.I338N Missense 5/21 - 1
3-178921531-T-C c.1013T>C p.I338T Missense 5/21 - 3
3-178921533-C-A c.1015C>A p.L339I Missense 5/21 - 15
3-178921533-C-G c.1015C>G p.L339V Missense 5/21 - 2
3-178921533-C-T c.1015C>T p.L339F Missense 5/21 - 8
3-178921533-CTT-TGG c.1015_1017delinsTGG p.L339W Missense 5/21 - 1
3-178921534-T-C c.1016T>C p.L339P Missense 5/21 - 1
3-178921533-CTT-C c.1017_1018del p.A341Nfs*11 Frameshift 5/21 - 1
3-178921537-G-A c.1019G>A p.C340Y Missense 5/21 - 1
3-178921537-G-T c.1019G>T p.C340F Missense 5/21 - 1
3-178921539-G-A c.1021G>A p.A341T Missense 5/21 - 1
3-178921539-G-C c.1021G>C p.A341P Missense 5/21 - 1
3-178921539-G-T c.1021G>T p.A341S Missense 5/21 - 1
3-178921540-C-A c.1022C>A p.A341E Missense 5/21 - 1
3-178921540-C-G c.1022C>G p.A341G Missense 5/21 - 1
3-178921540-C-T c.1022C>T p.A341V Missense 5/21 - 5
3-178921541-A-ATACT c.1023_1024insTACT p.T342Yfs*12 Frameshift 5/21 - 1
3-178921542-A-C c.1024A>C p.T342P Missense 5/21 - 1
3-178921542-AC-GA c.1024_1025delinsGA p.T342D Missense 5/21 - 2
3-178921542-A-G c.1024A>G p.T342A Missense 5/21 - 2
3-178921542-A-T c.1024A>T p.T342S Missense 5/21 - 8
3-178921543-C-A c.1025C>A p.T342N Missense 5/21 - 1
3-178921543-C-CTA c.1025_1026insTA p.Y343Tfs*3 Frameshift 5/21 - 1
3-178921543-CC-TG c.1025_1026delinsTG p.T342M Missense 5/21 - 3
3-178921543-C-G c.1025C>G p.T342S Missense 5/21 - 6
3-178921543-C-T c.1025C>T p.T342I Missense 5/21 - 2
3-178921544-C-A c.1026C>A p.T342= Synonymous 5/21 - 5
3-178921544-C-G c.1026C>G p.T342= Synonymous 5/21 - 2
3-178921544-C-T c.1026C>T p.T342= Synonymous 5/21 - 4
3-178921545-T-A c.1027T>A p.Y343N Missense 5/21 - 1
3-178921545-T-C c.1027T>C p.Y343H Missense 5/21 - 1
3-178921546-A-C c.1028A>C p.Y343S Missense 5/21 - 1
3-178921546-A-G c.1028A>G p.Y343C Missense 5/21 - 10
3-178921546-A-T c.1028A>T p.Y343F Missense 5/21 - 12
3-178921547-C-A c.1029C>A p.Y343* Nonsense 5/21 - 2
3-178921547-C-G c.1029C>G p.Y343* Nonsense 5/21 - 1
3-178921547-C-T c.1029C>T p.Y343= Synonymous 5/21 - 4
3-178921548-G-A c.1030G>A p.V344M Missense 5/21 - 108
3-178921548-G-C c.1030G>C p.V344L Missense 5/21 - 1
3-178921548-GT-AG c.1030_1031delinsAG p.V344R Missense 5/21 - 1
3-178921549-T-A c.1031T>A p.V344E Missense 5/21 - 3
3-178921549-T-C c.1031T>C p.V344A Missense 5/21 - 35
3-178921549-T-G c.1031T>G p.V344G Missense 5/21 - 103
3-178921550-G-A c.1032G>A p.V344= Synonymous 5/21 - 2
3-178921550-G-C c.1032G>C p.V344= Synonymous 5/21 - 1
3-178921550-G-T c.1032G>T p.V344= Synonymous 5/21 - 2
3-178921551-AA-CT c.1033_1034delinsCT p.N345L Missense 5/21 - 2
3-178921551-AAT-TAA c.1033_1035delinsTAA p.N345* Nonsense 5/21 - 1
3-178921551-A-C c.1033A>C p.N345H Missense 5/21 - 21
3-178921551-A-G c.1033A>G p.N345D Missense 5/21 - 13
3-178921551-A-T c.1033A>T p.N345Y Missense 5/21 - 8
3-178921552-A-C c.1034A>C p.N345T Missense 5/21 - 46
3-178921552-A-G c.1034A>G p.N345S Missense 5/21 - 20
3-178921552-A-T c.1034A>T p.N345I Missense 5/21 - 65
3-178921552-AT-GG c.1034_1035delinsGG p.N345R Missense 5/21 - 1
3-178921552-A-ATTT c.1035_1036insTTT p.N345_V346insF InFrameInsertion 5/21 - 1
3-178921553-T-A c.1035T>A p.N345K Missense 5/21 - 391
3-178921553-T-G c.1035T>G p.N345K Missense 5/21 - 151
3-178921554-G-A c.1036G>A p.V346I Missense 5/21 - 1
3-178921554-G-C c.1036G>C p.V346L Missense 5/21 - 4
3-178921554-G-GA c.1036_1037insA p.V346Dfs*7 Frameshift 5/21 - 1
3-178921554-G-T c.1036G>T p.V346L Missense 5/21 - 2
3-178921555-T-A c.1037T>A p.V346E Missense 5/21 - 9
3-178921555-T-C c.1037T>C p.V346A Missense 5/21 - 3
3-178921555-T-G c.1037T>G p.V346G Missense 5/21 - 5
3-178921558-A-C c.1040A>C p.N347T Missense 5/21 - 1
3-178921558-A-T c.1040A>T p.N347I Missense 5/21 - 2
3-178921559-T-A c.1041T>A p.N347K Missense 5/21 - 3
3-178921559-T-G c.1041T>G p.N347K Missense 5/21 - 6
3-178921560-A-G c.1042A>G p.I348V Missense 5/21 - 1
3-178921560-A-T c.1042A>T p.I348F Missense 5/21 - 1
3-178921560-TA-T c.1042del p.I348Ffs*24 Frameshift 5/21 - 1
3-178921561-T-C c.1043T>C p.I348T Missense 5/21 - 3
3-178921563-C-A c.1045C>A p.R349= Synonymous 5/21 - 2
3-178921563-CG-GC c.1045_1046delinsGC p.R349A Missense 5/21 - 1
3-178921563-C-T c.1045C>T p.R349* Nonsense 5/21 - 16
3-178921565-A-C c.1047A>C p.R349= Synonymous 5/21 - 1
3-178921565-A-G c.1047A>G p.R349= Synonymous 5/21 - 1
3-178921565-A-T c.1047A>T p.R349= Synonymous 5/21 - 2
3-178921564-G-A c.1046G>A p.R349Q Missense 5/21 - 13
3-178921564-G-C c.1046G>C p.R349P Missense 5/21 - 1
3-178921566-G-A c.1048G>A p.D350N Missense 5/21 - 64
3-178921566-G-C c.1048G>C p.D350H Missense 5/21 - 10
3-178921566-G-T c.1048G>T p.D350Y Missense 5/21 - 1
3-178921567-AC-G c.1049_1050delinsG p.D350Gfs*22 Frameshift 5/21 - 1
3-178921567-A-G c.1049A>G p.D350G Missense 5/21 - 68
3-178921567-A-T c.1049A>T p.D350V Missense 5/21 - 1
3-178921568-C-A c.1050C>A p.D350E Missense 5/21 - 1
3-178921569-A-G c.1051A>G p.I351V Missense 5/21 - 2
3-178921570-T-C c.1052T>C p.I351T Missense 5/21 - 2
3-178921570-T-G c.1052T>G p.I351S Missense 5/21 - 1
3-178921569-AT-A c.1053del p.I351Mfs*21 Frameshift 5/21 - 1
3-178921572-G-A c.1054G>A p.D352N Missense 5/21 - 5
3-178921572-G-C c.1054G>C p.D352H Missense 5/21 - 4
3-178921572-G-T c.1054G>T p.D352Y Missense 5/21 - 3
3-178921573-A-C c.1055A>C p.D352A Missense 5/21 - 1
3-178921573-A-T c.1055A>T p.D352V Missense 5/21 - 1
3-178921575-A-C c.1057A>C p.K353Q Missense 5/21 - 1
3-178921575-A-T c.1057A>T p.K353* Nonsense 5/21 - 2
3-178921576-A-G c.1058A>G p.K353R Missense 5/21 - 1
3-178921576-A-T c.1058A>T p.K353M Missense 5/21 - 1
3-178921577-G-T c.1059G>T p.K353N Missense 5/21 - 1
3-178921578-G-A c.1059+1G>A - IntronicSNV - 5/20 2
3-178921578-G-T c.1059+1G>T - IntronicSNV - 5/20 1
3-178921579-T-A c.1059+2T>A - IntronicSNV - 5/20 1
3-178921583-AG-A c.1059+6del - IntronicDeletion - 5/20 1
3-178921584-T-C c.1059+7T>C - IntronicSNV - 5/20 1
3-178921585-C-A c.1059+8C>A - IntronicSNV - 5/20 1
3-178921639-C-A c.1059+62C>A - IntronicSNV - 5/20 11
3-178922222-G-T c.1060-69G>T - IntronicSNV - 5/20 6
3-178922274-C-A c.1060-17C>A - IntronicSNV - 5/20 14
3-178922274-C-G c.1060-17C>G - IntronicSNV - 5/20 14
3-178922291-A-G c.1060A>G p.I354V Missense 6/21 - 2
3-178922291-A-T c.1060A>T p.I354F Missense 6/21 - 2
3-178922292-T-C c.1061T>C p.I354T Missense 6/21 - 2
3-178922292-TC-AA c.1061_1062delinsAA p.I354K SpliceAcceptorBlockSubstitution 6/21 - 1
3-178922293-C-A c.1062C>A p.I354= Synonymous 6/21 - 3
3-178922293-C-G c.1062C>G p.I354M Missense 6/21 - 1
3-178922293-C-T c.1062C>T p.I354= Synonymous 6/21 - 3
3-178922294-T-C c.1063T>C p.Y355H Missense 6/21 - 1
3-178922295-A-T c.1064A>T p.Y355F Missense 6/21 - 2
3-178922297-G-A c.1066G>A p.V356I Missense 6/21 - 8
3-178922297-G-T c.1066G>T p.V356F Missense 6/21 - 2
3-178922297-GTT-ATG c.1066_1068delinsATG p.V356M Missense 6/21 - 2
3-178922298-T-C c.1067T>C p.V356A Missense 6/21 - 5
3-178922297-GT-G c.1068del p.R357Efs*15 Frameshift 6/21 - 1
3-178922299-T-C c.1068T>C p.V356= Synonymous 6/21 - 1
3-178922300-C-A c.1069C>A p.R357= Synonymous 6/21 - 3
3-178922300-CGA-TGG c.1069_1071delinsTGG p.R357W Missense 6/21 - 1
3-178922300-C-T c.1069C>T p.R357* Nonsense 6/21 - 7
3-178922302-A-C c.1071A>C p.R357= Synonymous 6/21 - 2
3-178922302-A-G c.1071A>G p.R357= Synonymous 6/21 - 2
3-178922302-A-T c.1071A>T p.R357= Synonymous 6/21 - 2
3-178922301-G-A c.1070G>A p.R357Q Missense 6/21 - 35
3-178922301-G-C c.1070G>C p.R357P Missense 6/21 - 1
3-178922301-G-T c.1070G>T p.R357L Missense 6/21 - 10
3-178922303-A-G c.1072A>G p.T358A Missense 6/21 - 1
3-178922304-C-A c.1073C>A p.T358K Missense 6/21 - 2
3-178922304-C-G c.1073C>G p.T358R Missense 6/21 - 1
3-178922304-C-T c.1073C>T p.T358I Missense 6/21 - 3
3-178922306-G-A c.1075G>A p.G359S Missense 6/21 - 3
3-178922306-G-C c.1075G>C p.G359R Missense 6/21 - 10
3-178922306-G-T c.1075G>T p.G359C Missense 6/21 - 2
3-178922307-G-A c.1076G>A p.G359D Missense 6/21 - 2
3-178922307-G-C c.1076G>C p.G359A Missense 6/21 - 1
3-178922307-GT-AG c.1076_1077delinsAG p.G359E Missense 6/21 - 1
3-178922308-T-A c.1077T>A p.G359= Synonymous 6/21 - 1
3-178922309-A-G c.1078A>G p.I360V Missense 6/21 - 2
3-178922310-T-C c.1079T>C p.I360T Missense 6/21 - 1
3-178922311-C-A c.1080C>A p.I360= Synonymous 6/21 - 1
3-178922311-C-T c.1080C>T p.I360= Synonymous 6/21 - 1
3-178922313-A-G c.1082A>G p.Y361C Missense 6/21 - 1
3-178922313-A-T c.1082A>T p.Y361F Missense 6/21 - 1
3-178922314-C-A c.1083C>A p.Y361* Nonsense 6/21 - 3
3-178922314-C-G c.1083C>G p.Y361* Nonsense 6/21 - 1
3-178922314-C-T c.1083C>T p.Y361= Synonymous 6/21 - 1
3-178922315-C-A c.1084C>A p.H362N Missense 6/21 - 2
3-178922315-C-G c.1084C>G p.H362D Missense 6/21 - 1
3-178922316-A-G c.1085A>G p.H362R Missense 6/21 - 1
3-178922316-A-T c.1085A>T p.H362L Missense 6/21 - 1
3-178922317-T-A c.1086T>A p.H362Q Missense 6/21 - 1
3-178922317-T-C c.1086T>C p.H362= Synonymous 6/21 - 1
3-178922318-G-A c.1087G>A p.G363R Missense 6/21 - 2
3-178922318-G-C c.1087G>C p.G363R Missense 6/21 - 1
3-178922319-G-A c.1088G>A p.G363E Missense 6/21 - 1
3-178922319-G-C c.1088G>C p.G363A Missense 6/21 - 18
3-178922319-G-T c.1088G>T p.G363V Missense 6/21 - 2
3-178922321-G-A c.1090G>A p.G364R Missense 6/21 - 56
3-178922321-G-C c.1090G>C p.G364R Missense 6/21 - 37
3-178922321-GGA-AGC c.1090_1092delinsAGC p.G364S Missense 6/21 - 2
3-178922321-GGA-TGT c.1090_1092delinsTGT p.G364C Missense 6/21 - 1
3-178922317-TGGA-T c.1091_1093del p.G364del InFrameDeletion 6/21 - 1
3-178922322-G-A c.1091G>A p.G364E Missense 6/21 - 3
3-178922322-G-C c.1091G>C p.G364A Missense 6/21 - 4
3-178922322-G-T c.1091G>T p.G364V Missense 6/21 - 1
3-178922324-G-A c.1093G>A p.E365K Missense 6/21 - 123
3-178922324-G-C c.1093G>C p.E365Q Missense 6/21 - 2
3-178922325-A-G c.1094A>G p.E365G Missense 6/21 - 3
3-178922325-A-T c.1094A>T p.E365V Missense 6/21 - 25
3-178922324-GA-G c.1095del p.E365Dfs*7 Frameshift 6/21 - 1
3-178922326-A-G c.1095A>G p.E365= Synonymous 6/21 - 1
3-178922326-A-T c.1095A>T p.E365D Missense 6/21 - 2
3-178922327-C-A c.1096C>A p.P366T Missense 6/21 - 1
3-178922327-C-T c.1096C>T p.P366S Missense 6/21 - 6
3-178922328-C-A c.1097C>A p.P366H Missense 6/21 - 2
3-178922328-C-G c.1097C>G p.P366R Missense 6/21 - 33
3-178922328-C-T c.1097C>T p.P366L Missense 6/21 - 3
3-178922329-C-A c.1098C>A p.P366= Synonymous 6/21 - 1
3-178922330-CTT-C c.1099_1100del p.L367Mfs*2 Frameshift 6/21 - 1
3-178922330-T-C c.1099T>C p.L367= Synonymous 6/21 - 1
3-178922331-T-C c.1100T>C p.L367S Missense 6/21 - 1
3-178922331-T-G c.1100T>G p.L367* Nonsense 6/21 - 1
3-178922333-T-A c.1102T>A p.C368S Missense 6/21 - 2
3-178922334-G-C c.1103G>C p.C368S Missense 6/21 - 1
3-178922334-G-T c.1103G>T p.C368F Missense 6/21 - 1
3-178922335-T-A c.1104T>A p.C368* Nonsense 6/21 - 1
3-178922335-T-C c.1104T>C p.C368= Synonymous 6/21 - 2
3-178922336-G-A c.1105G>A p.D369N Missense 6/21 - 1
3-178922336-G-C c.1105G>C p.D369H Missense 6/21 - 2
3-178922336-G-T c.1105G>T p.D369Y Missense 6/21 - 3
3-178922337-A-G c.1106A>G p.D369G Missense 6/21 - 1
3-178922338-C-A c.1107C>A p.D369E Missense 6/21 - 1
3-178922338-C-G c.1107C>G p.D369E Missense 6/21 - 1
3-178922339-A-C c.1108A>C p.N370H Missense 6/21 - 3
3-178922339-A-G c.1108A>G p.N370D Missense 6/21 - 1
3-178922338-C-CA c.1109dup p.N370Kfs*16 Frameshift 6/21 - 1
3-178922340-A-G c.1109A>G p.N370S Missense 6/21 - 17
3-178922340-A-T c.1109A>T p.N370I Missense 6/21 - 1
3-178922341-T-A c.1110T>A p.N370K Missense 6/21 - 1
3-178922341-T-G c.1110T>G p.N370K Missense 6/21 - 1
3-178922342-G-A c.1111G>A p.V371M Missense 6/21 - 2
3-178922342-G-C c.1111G>C p.V371L Missense 6/21 - 1
3-178922342-G-T c.1111G>T p.V371L Missense 6/21 - 3
3-178922343-GT-G c.1112del p.V371Gfs*17 Frameshift 6/21 - 1
3-178922343-T-A c.1112T>A p.V371E Missense 6/21 - 1
3-178922343-T-C c.1112T>C p.V371A Missense 6/21 - 2
3-178922344-G-A c.1113G>A p.V371= Synonymous 6/21 - 2
3-178922344-G-C c.1113G>C p.V371= Synonymous 6/21 - 1
3-178922344-G-T c.1113G>T p.V371= Synonymous 6/21 - 2
3-178922345-A-C c.1114A>C p.N372H Missense 6/21 - 1
3-178922345-GAA-G c.1114_1115del p.N372Hfs*13 Frameshift 6/21 - 1
3-178922346-A-G c.1115A>G p.N372S Missense 6/21 - 2
3-178922347-C-A c.1116C>A p.N372K Missense 6/21 - 2
3-178922347-C-G c.1116C>G p.N372K Missense 6/21 - 1
3-178922347-C-T c.1116C>T p.N372= Synonymous 6/21 - 1
3-178922348-AC-TG c.1117_1118delinsTG p.T373C Missense 6/21 - 1
3-178922348-A-G c.1117A>G p.T373A Missense 6/21 - 1
3-178922348-A-T c.1117A>T p.T373S Missense 6/21 - 1
3-178922349-C-A c.1118C>A p.T373N Missense 6/21 - 3
3-178922350-T-A c.1119T>A p.T373= Synonymous 6/21 - 1
3-178922350-T-C c.1119T>C p.T373= Synonymous 6/21 - 1
3-178922351-C-A c.1120C>A p.Q374K Missense 6/21 - 1
3-178922351-C-T c.1120C>T p.Q374* Nonsense 6/21 - 3
3-178922352-A-C c.1121A>C p.Q374P Missense 6/21 - 1
3-178922353-A-C c.1122A>C p.Q374H Missense 6/21 - 3
3-178922353-A-T c.1122A>T p.Q374H Missense 6/21 - 3
3-178922354-AGA-CAT c.1123_1125delinsCAT p.R375H Missense 6/21 - 2
3-178922354-AGA-TGT c.1123_1125delinsTGT p.R375C Missense 6/21 - 1
3-178922354-AG-CA c.1123_1124delinsCA p.R375Q Missense 6/21 - 1
3-178922354-A-T c.1123A>T p.R375* Nonsense 6/21 - 1
3-178922355-G-T c.1124G>T p.R375I Missense 6/21 - 1
3-178922356-A-T c.1125A>T p.R375S Missense 6/21 - 1
3-178922357-G-A c.1126G>A p.V376I Missense 6/21 - 1
3-178922357-G-T c.1126G>T p.V376L Missense 6/21 - 1
3-178922358-GTAC-G c.1127_1129del p.V376_P377delinsA MultiAAMissense 6/21 - 1
3-178922360-C-A c.1129C>A p.P377T Missense 6/21 - 1
3-178922360-C-G c.1129C>G p.P377A Missense 6/21 - 1
3-178922360-C-T c.1129C>T p.P377S Missense 6/21 - 4
3-178922361-C-A c.1130C>A p.P377H Missense 6/21 - 4
3-178922361-C-G c.1130C>G p.P377R Missense 6/21 - 11
3-178922361-C-T c.1130C>T p.P377L Missense 6/21 - 3
3-178922361-CT-AA c.1130_1131delinsAA p.P377Q Missense 6/21 - 1
3-178922362-T-A c.1131T>A p.P377= Synonymous 6/21 - 1
3-178922362-T-C c.1131T>C p.P377= Synonymous 6/21 - 1
3-178922362-T-G c.1131T>G p.P377= Synonymous 6/21 - 1
3-178922363-T-C c.1132T>C p.C378R Missense 6/21 - 46
3-178922364-G-A c.1133G>A p.C378Y Missense 6/21 - 55
3-178922364-G-T c.1133G>T p.C378F Missense 6/21 - 44
3-178922365-T-C c.1134T>C p.C378= Synonymous 6/21 - 1
3-178922365-T-G c.1134T>G p.C378W Missense 6/21 - 7
3-178922366-T-A c.1135T>A p.S379T Missense 6/21 - 11
3-178922366-TC-CG c.1135_1136delinsCG p.S379R Missense 6/21 - 2
3-178922366-TCC-GAG c.1135_1137delinsGAG p.S379E Missense 6/21 - 1
3-178922366-TC-GA c.1135_1136inv p.S379D Missense 6/21 - 1
3-178922366-T-G c.1135T>G p.S379A Missense 6/21 - 2
3-178922367-C-A c.1136C>A p.S379Y Missense 6/21 - 2
3-178922367-CC-AA c.1136_1137delinsAA p.S379* Nonsense 6/21 - 1
3-178922367-C-T c.1136C>T p.S379F Missense 6/21 - 4
3-178922368-C-A c.1137C>A p.S379= Synonymous 6/21 - 1
3-178922369-A-C c.1138A>C p.N380H Missense 6/21 - 1
3-178922369-A-G c.1138A>G p.N380D Missense 6/21 - 1
3-178922368-CA-C c.1139del p.N380Ifs*8 Frameshift 6/21 - 1
3-178922370-A-G c.1139A>G p.N380S Missense 6/21 - 14
3-178922370-A-T c.1139A>T p.N380I Missense 6/21 - 1
3-178922370-AT-TG c.1139_1140delinsTG p.N380M Missense 6/21 - 1
3-178922371-T-A c.1140T>A p.N380K Missense 6/21 - 2
3-178922371-T-G c.1140T>G p.N380K Missense 6/21 - 1
3-178922372-C-A c.1141C>A p.P381T Missense 6/21 - 1
3-178922372-C-G c.1141C>G p.P381A Missense 6/21 - 1
3-178922372-C-T c.1141C>T p.P381S Missense 6/21 - 3
3-178922373-C-A c.1142C>A p.P381H Missense 6/21 - 2
3-178922373-CC-AA c.1142_1143delinsAA p.P381Q Missense 6/21 - 1
3-178922373-C-G c.1142C>G p.P381R Missense 6/21 - 1
3-178922373-C-T c.1142C>T p.P381L Missense 6/21 - 1
3-178922374-C-A c.1143C>A p.P381= Synonymous 6/21 - 3
3-178922374-C-G c.1143C>G p.P381= Synonymous 6/21 - 9
3-178922374-C-T c.1143C>T p.P381= Synonymous 6/21 - 2
3-178922375-A-G c.1144A>G p.R382G Missense 6/21 - 1
3-178922375-A-T c.1144A>T p.R382W Missense 6/21 - 1
3-178922376-G-A c.1145G>A p.R382K Missense 6/21 - 11
3-178922376-G-C c.1145G>C p.R382T Missense 6/21 - 1
3-178922376-G-T c.1145G>T p.R382M Missense 6/21 - 1
3-178922377-G-A c.1145+1G>A - IntronicSNV - 6/20 1
3-178922378-T-A c.1145+2T>A - IntronicSNV - 6/20 2
3-178922378-T-C c.1145+2T>C - IntronicSNV - 6/20 1
3-178922381-G-A c.1145+5G>A - IntronicSNV - 6/20 1
3-178922381-G-T c.1145+5G>T - IntronicSNV - 6/20 1
3-178922385-G-A c.1145+9G>A - IntronicSNV - 6/20 1
3-178922390-T-C c.1145+14T>C - IntronicSNV - 6/20 1
3-178922392-G-A c.1145+16G>A - IntronicSNV - 6/20 1
3-178922430-A-G c.1145+54A>G - IntronicSNV - 6/20 12
3-178922563-G-A c.1145+187G>A - IntronicSNV - 6/20 1
3-178922613-T-C c.1145+237T>C - IntronicSNV - 6/20 1
3-178922682-A-G c.1145+306A>G - IntronicSNV - 6/20 1
3-178923807-C-A c.1145+1431C>A - IntronicSNV - 6/20 6
3-178923807-C-T c.1145+1431C>T - IntronicSNV - 6/20 6
3-178924032-AG-A c.1145+1662del - IntronicDeletion - 6/20 1
3-178924950-A-T c.1146-2433A>T - IntronicSNV - 6/20 1
3-178927149-T-C c.1146-234T>C - IntronicSNV - 6/20 1
3-178927345-T-C c.1146-38T>C - IntronicSNV - 6/20 4
3-178927353-G-A c.1146-30G>A - IntronicSNV - 6/20 1
3-178922375-A-C c.1144A>C p.R382= Synonymous 6/21 - 1
3-178927381-AG-A c.1146del p.R382Sfs*6 Frameshift 7/21 - 1
3-178927383-G-A c.1146G>A p.R382= Synonymous 7/21 - 2
3-178927383-G-T c.1146G>T p.R382S Missense 7/21 - 1
3-178927384-GT-G c.1147del p.W383Gfs*5 Frameshift 7/21 - 1
3-178927384-T-A c.1147T>A p.W383R Missense 7/21 - 2
3-178927384-T-C c.1147T>C p.W383R Missense 7/21 - 5
3-178927385-G-A c.1148G>A p.W383* Nonsense 7/21 - 5
3-178927385-G-T c.1148G>T p.W383L Missense 7/21 - 2
3-178927384-T-TG c.1149dup p.N384Efs*2 Frameshift 7/21 - 1
3-178927386-G-A c.1149G>A p.W383* Nonsense 7/21 - 2
3-178927390-G-A c.1153G>A p.E385K Missense 7/21 - 6
3-178927390-G-T c.1153G>T p.E385* Nonsense 7/21 - 1
3-178927391-A-G c.1154A>G p.E385G Missense 7/21 - 1
3-178927392-A-T c.1155A>T p.E385D Missense 7/21 - 2
3-178927394-G-A c.1157G>A p.W386* Nonsense 7/21 - 1
3-178927394-G-T c.1157G>T p.W386L Missense 7/21 - 4
3-178927395-G-A c.1158G>A p.W386* Nonsense 7/21 - 1
3-178927395-G-T c.1158G>T p.W386C Missense 7/21 - 1
3-178927396-C-A c.1159C>A p.L387M Missense 7/21 - 3
3-178927396-C-G c.1159C>G p.L387V Missense 7/21 - 3
3-178927397-T-C c.1160T>C p.L387P Missense 7/21 - 2
3-178927396-C-T c.1159C>T p.L387= Synonymous 7/21 - 4
3-178927398-G-A c.1161G>A p.L387= Synonymous 7/21 - 2
3-178927398-G-C c.1161G>C p.L387= Synonymous 7/21 - 1
3-178927398-G-T c.1161G>T p.L387= Synonymous 7/21 - 1
3-178927401-T-A c.1164T>A p.N388K Missense 7/21 - 3
3-178927401-T-G c.1164T>G p.N388K Missense 7/21 - 1
3-178927402-T-C c.1165T>C p.Y389H Missense 7/21 - 1
3-178927403-A-G c.1166A>G p.Y389C Missense 7/21 - 1
3-178927404-T-A c.1167T>A p.Y389* Nonsense 7/21 - 2
3-178927404-T-G c.1167T>G p.Y389* Nonsense 7/21 - 2
3-178927405-G-A c.1168G>A p.D390N Missense 7/21 - 5
3-178927405-G-C c.1168G>C p.D390H Missense 7/21 - 3
3-178927405-G-T c.1168G>T p.D390Y Missense 7/21 - 3
3-178927406-A-G c.1169A>G p.D390G Missense 7/21 - 1
3-178927408-A-C c.1171A>C p.I391L Missense 7/21 - 1
3-178927408-A-G c.1171A>G p.I391V Missense 7/21 - 1
3-178927408-A-T c.1171A>T p.I391L Missense 7/21 - 1
3-178927409-T-A c.1172T>A p.I391K Missense 7/21 - 1
3-178927409-T-C c.1172T>C p.I391T Missense 7/21 - 3
3-178927410-A-C c.1173A>C p.I391= Synonymous 7/21 - 1
3-178927410-A-G c.1173A>G p.I391M Missense 7/21 - 129
3-178927410-A-T c.1173A>T p.I391= Synonymous 7/21 - 2
3-178927411-T-C c.1174T>C p.Y392H Missense 7/21 - 2
3-178927412-A-G c.1175A>G p.Y392C Missense 7/21 - 3
3-178927413-C-A c.1176C>A p.Y392* Nonsense 7/21 - 3
3-178927413-C-G c.1176C>G p.Y392* Nonsense 7/21 - 1
3-178927413-C-T c.1176C>T p.Y392= Synonymous 7/21 - 1
3-178927414-A-T c.1177A>T p.I393F Missense 7/21 - 1
3-178927414-AT-GC c.1177_1178delinsGC p.I393A Missense 7/21 - 2
3-178927415-T-A c.1178T>A p.I393N Missense 7/21 - 1
3-178927415-T-C c.1178T>C p.I393T Missense 7/21 - 1
3-178927416-T-A c.1179T>A p.I393= Synonymous 7/21 - 2
3-178927416-T-C c.1179T>C p.I393= Synonymous 7/21 - 2
3-178927417-C-A c.1180C>A p.P394T Missense 7/21 - 1
3-178927418-C-A c.1181C>A p.P394H Missense 7/21 - 1
3-178927418-C-G c.1181C>G p.P394R Missense 7/21 - 2
3-178927418-C-T c.1181C>T p.P394L Missense 7/21 - 4
3-178927419-T-C c.1182T>C p.P394= Synonymous 7/21 - 2
3-178927420-G-A c.1183G>A p.D395N Missense 7/21 - 3
3-178927420-G-C c.1183G>C p.D395H Missense 7/21 - 2
3-178927420-G-T c.1183G>T p.D395Y Missense 7/21 - 1
3-178927421-A-C c.1184A>C p.D395A Missense 7/21 - 9
3-178927422-T-A c.1185T>A p.D395E Missense 7/21 - 1
3-178927422-T-C c.1185T>C p.D395= Synonymous 7/21 - 1
3-178927423-C-A c.1186C>A p.L396I Missense 7/21 - 1
3-178927423-C-CGG c.1186_1187insGG p.L396Rfs*33 Frameshift 7/21 - 1
3-178927423-C-G c.1186C>G p.L396V Missense 7/21 - 1
3-178927423-C-T c.1186C>T p.L396F Missense 7/21 - 3
3-178927424-T-A c.1187T>A p.L396H Missense 7/21 - 2
3-178927426-C-A c.1189C>A p.P397T Missense 7/21 - 1
3-178927426-C-G c.1189C>G p.P397A Missense 7/21 - 2
3-178927426-C-T c.1189C>T p.P397S Missense 7/21 - 1
3-178927427-C-A c.1190C>A p.P397H Missense 7/21 - 2
3-178927427-C-T c.1190C>T p.P397L Missense 7/21 - 2
3-178927429-C-A c.1192C>A p.R398S Missense 7/21 - 2
3-178927429-C-G c.1192C>G p.R398G Missense 7/21 - 1
3-178927429-CG-AT c.1192_1193delinsAT p.R398I Missense 7/21 - 1
3-178927429-CGT-TGA c.1192_1194delinsTGA p.R398* Nonsense 7/21 - 2
3-178927429-C-T c.1192C>T p.R398C Missense 7/21 - 6
3-178927430-G-A c.1193G>A p.R398H Missense 7/21 - 26
3-178927430-G-C c.1193G>C p.R398P Missense 7/21 - 1
3-178927430-G-T c.1193G>T p.R398L Missense 7/21 - 2
3-178927430-GT-AA c.1193_1194delinsAA p.R398Q Missense 7/21 - 3
3-178927431-T-C c.1194T>C p.R398= Synonymous 7/21 - 1
3-178927432-G-A c.1195G>A p.A399T Missense 7/21 - 4
3-178927432-G-C c.1195G>C p.A399P Missense 7/21 - 1
3-178927432-G-T c.1195G>T p.A399S Missense 7/21 - 2
3-178927433-C-A c.1196C>A p.A399D Missense 7/21 - 1
3-178927433-C-T c.1196C>T p.A399V Missense 7/21 - 2
3-178927434-T-A c.1197T>A p.A399= Synonymous 7/21 - 2
3-178927434-T-C c.1197T>C p.A399= Synonymous 7/21 - 2
3-178927434-T-G c.1197T>G p.A399= Synonymous 7/21 - 2
3-178927435-G-A c.1198G>A p.A400T Missense 7/21 - 2
3-178927435-G-C c.1198G>C p.A400P Missense 7/21 - 2
3-178927436-C-A c.1199C>A p.A400D Missense 7/21 - 1
3-178927436-C-T c.1199C>T p.A400V Missense 7/21 - 8
3-178927436-CT-AG c.1199_1200inv p.A400E Missense 7/21 - 1
3-178927437-T-G c.1200T>G p.A400= Synonymous 7/21 - 1
3-178927438-C-A c.1201C>A p.R401= Synonymous 7/21 - 1
3-178927438-CGA-TGT c.1201_1203delinsTGT p.R401C Missense 7/21 - 2
3-178927438-C-T c.1201C>T p.R401* Nonsense 7/21 - 6
3-178927439-G-A c.1202G>A p.R401Q Missense 7/21 - 12
3-178927439-GA-AT c.1202_1203delinsAT p.R401H Missense 7/21 - 2
3-178927441-AC-A c.1204del p.L402Ffs*26 Frameshift 7/21 - 1
3-178927441-C-A c.1204C>A p.L402I Missense 7/21 - 1
3-178927441-C-T c.1204C>T p.L402F Missense 7/21 - 2
3-178927441-CTT-GAG c.1204_1206delinsGAG p.L402E Missense 7/21 - 1
3-178927441-CTT-TGG c.1204_1206delinsTGG p.L402W Missense 7/21 - 1
3-178927442-T-C c.1205T>C p.L402P Missense 7/21 - 2
3-178927442-T-G c.1205T>G p.L402R Missense 7/21 - 4
3-178927443-T-C c.1206T>C p.L402= Synonymous 7/21 - 1
3-178927444-T-A c.1207T>A p.C403S Missense 7/21 - 1
3-178927444-TG-GC c.1207_1208delinsGC p.C403A Missense 7/21 - 1
3-178927445-G-C c.1208G>C p.C403S Missense 7/21 - 1
3-178927445-G-A c.1208G>A p.C403Y Missense 7/21 - 3
3-178927446-C-A c.1209C>A p.C403* Nonsense 7/21 - 2
3-178927446-C-T c.1209C>T p.C403= Synonymous 7/21 - 1
3-178927447-C-A c.1210C>A p.L404I Missense 7/21 - 1
3-178927447-CT-AG c.1210_1211inv p.L404S Missense 7/21 - 1
3-178927447-CTT-TAA c.1210_1212delinsTAA p.L404* Nonsense 7/21 - 1
3-178927448-T-A c.1211T>A p.L404H Missense 7/21 - 3
3-178927448-T-C c.1211T>C p.L404P Missense 7/21 - 2
3-178927449-T-A c.1212T>A p.L404= Synonymous 7/21 - 1
3-178927449-T-C c.1212T>C p.L404= Synonymous 7/21 - 1
3-178927449-T-G c.1212T>G p.L404= Synonymous 7/21 - 1
3-178927450-T-C c.1213T>C p.S405P Missense 7/21 - 5
3-178927450-TC-CG c.1213_1214delinsCG p.S405R Missense 7/21 - 1
3-178927450-TC-CT c.1213_1214delinsCT p.S405L Missense 7/21 - 1
3-178927450-T-G c.1213T>G p.S405A Missense 7/21 - 1
3-178927451-C-A c.1214C>A p.S405Y Missense 7/21 - 1
3-178927451-C-T c.1214C>T p.S405F Missense 7/21 - 16
3-178927452-C-A c.1215C>A p.S405= Synonymous 7/21 - 5
3-178927452-C-G c.1215C>G p.S405= Synonymous 7/21 - 5
3-178927452-C-T c.1215C>T p.S405= Synonymous 7/21 - 5
3-178927453-A-G c.1216A>G p.I406V Missense 7/21 - 1
3-178927454-T-C c.1217T>C p.I406T Missense 7/21 - 1
3-178927456-T-A c.1219T>A p.C407S Missense 7/21 - 2
3-178927456-T-C c.1219T>C p.C407R Missense 7/21 - 3
3-178927456-TG-GA c.1219_1220delinsGA p.C407D