CFTR

CFTR CF transmembrane conductance regulator

Annotation transcript: NM_000492.4

6743 unique variant annotations were identified in 4566 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
7-117120101-A-G c.-48A>G - 5-UTRSNV 1/27 - 1
7-117120107-A-G c.-42A>G - 5-UTRSNV 1/27 - 1
7-117120108-G-C c.-41G>C - 5-UTRSNV 1/27 - 1
7-117120115-C-A c.-34C>A - 5-UTRSNV 1/27 - 2
7-117120115-C-T c.-34C>T - 5-UTRSNV 1/27 - 2
7-117120118-C-T c.-31C>T - 5-UTRSNV 1/27 - 1
7-117120120-C-T c.-29C>T - 5-UTRSNV 1/27 - 1
7-117120125-A-G c.-24A>G - 5-UTRSNV 1/27 - 1
7-117120128-G-T c.-21G>T - 5-UTRSNV 1/27 - 1
7-117120129-A-G c.-20A>G - 5-UTRSNV 1/27 - 1
7-117120133-C-T c.-16C>T - 5-UTRSNV 1/27 - 1
7-117120136-C-G c.-13C>G - 5-UTRSNV 1/27 - 1
7-117120136-C-T c.-13C>T - 5-UTRSNV 1/27 - 1
7-117120141-G-C c.-8G>C - 5-UTRSNV 1/27 - 10
7-117120145-G-C c.-4G>C - 5-UTRSNV 1/27 - 2
7-117120147-C-G c.-2C>G - 5-UTRSNV 1/27 - 1
7-117120147-C-T c.-2C>T - 5-UTRSNV 1/27 - 1
7-117120149-A-AC c.1_2insC p.M1? CdsStartInsertion 1/27 - 2
7-117120149-A-ACCTAC c.1_2insCCTAC p.M1? CdsStartInsertion 1/27 - 2
7-117120149-A-C c.1A>C p.M1? Missense 1/27 - 2
7-117120149-A-G c.1A>G p.M1? Missense 1/27 - 12
7-117120149-A-T c.1A>T p.M1? Missense 1/27 - 1
7-117120149-CAT-C c.1_2del p.M1? CdsStartDeletion 1/27 - 2
7-117120150-T-A c.2T>A p.M1? Missense 1/27 - 2
7-117120150-T-C c.2T>C p.M1? Missense 1/27 - 9
7-117120150-T-G c.2T>G p.M1? Missense 1/27 - 3
7-117120151-G-A c.3G>A p.M1? Missense 1/27 - 9
7-117120151-G-T c.3G>T p.M1? Missense 1/27 - 1
7-117120151-TGCAGAGGTCGCCTCTGGAAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAGGTGAGAAG-T c.4_53+9del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/27 1/26 1
7-117120152-CAG-TTT c.4_6delinsTTT p.Q2F Missense 1/27 - 1
7-117120152-C-T c.4C>T p.Q2* Nonsense 1/27 - 4
7-117120152-GC-G c.4del p.Q2Rfs*23 Frameshift 1/27 - 1
7-117120153-A-C c.5A>C p.Q2P Missense 1/27 - 1
7-117120153-A-G c.5A>G p.Q2R Missense 1/27 - 1
7-117120153-A-T c.5A>T p.Q2L Missense 1/27 - 1
7-117120154-G-A c.6G>A p.Q2= Synonymous 1/27 - 2
7-117120155-AG-TA c.7_8delinsTA p.R3* Nonsense 1/27 - 2
7-117120155-A-T c.7A>T p.R3W Missense 1/27 - 1
7-117120156-G-T c.8G>T p.R3M Missense 1/27 - 1
7-117120155-A-C c.7A>C p.R3= Synonymous 1/27 - 1
7-117120157-G-A c.9G>A p.R3= Synonymous 1/27 - 1
7-117120157-G-T c.9G>T p.R3S Missense 1/27 - 1
7-117120158-TC-AA c.10_11delinsAA p.S4K Missense 1/27 - 1
7-117120158-T-G c.10T>G p.S4A Missense 1/27 - 1
7-117120159-C-A c.11C>A p.S4* Nonsense 1/27 - 12
7-117120159-CG-GT c.11_12delinsGT p.S4C Missense 1/27 - 1
7-117120159-C-T c.11C>T p.S4L Missense 1/27 - 6
7-117120160-G-T c.12G>T p.S4= Synonymous 1/27 - 1
7-117120162-C-T c.14C>T p.P5L Missense 1/27 - 15
7-117120163-T-C c.15T>C p.P5= Synonymous 1/27 - 1
7-117120164-C-G c.16C>G p.L6V Missense 1/27 - 1
7-117120165-T-G c.17T>G p.L6R Missense 1/27 - 1
7-117120166-G-C c.18G>C p.L6= Synonymous 1/27 - 1
7-117120167-G-A c.19G>A p.E7K Missense 1/27 - 1
7-117120167-G-C c.19G>C p.E7Q Missense 1/27 - 2
7-117120167-GGAA-G c.19_21del p.E7del InFrameDeletion 1/27 - 1
7-117120167-G-T c.19G>T p.E7* Nonsense 1/27 - 9
7-117120168-A-T c.20A>T p.E7V Missense 1/27 - 4
7-117120169-AAAAGGCCAGCGTTGTCTCCAAACTTTTTTTCAGGTGAGAAGGTGGCCAACCGAGCTTCG-A c.21_53+26del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 1/27 1/26 1
7-117120169-A-AT c.21_22insT p.K8* Nonsense 1/27 - 1
7-117120167-GA-G c.23del p.K8Rfs*17 Frameshift 1/27 - 1
7-117120171-A-C c.23A>C p.K8T Missense 1/27 - 1
7-117120172-G-A c.24G>A p.K8= Synonymous 1/27 - 4
7-117120172-G-C c.24G>C p.K8N Missense 1/27 - 1
7-117120172-G-T c.24G>T p.K8N Missense 1/27 - 1
7-117120171-A-AG c.25dup p.A9Gfs*36 Frameshift 1/27 - 1
7-117120173-G-A c.25G>A p.A9T Missense 1/27 - 1
7-117120174-C-T c.26C>T p.A9V Missense 1/27 - 1
7-117120176-A-C c.28A>C p.S10R Missense 1/27 - 1
7-117120176-A-G c.28A>G p.S10G Missense 1/27 - 2
7-117120176-AG-CA c.28_29delinsCA p.S10H Missense 1/27 - 2
7-117120176-AG-CC c.28_29delinsCC p.S10P Missense 1/27 - 1
7-117120176-AGC-GAG c.28_30delinsGAG p.S10E Missense 1/27 - 5
7-117120176-AG-CT c.28_29inv p.S10L Missense 1/27 - 1
7-117120176-AGC-TGA c.28_30delinsTGA p.S10* Nonsense 1/27 - 1
7-117120176-AG-GA c.28_29delinsGA p.S10D Missense 1/27 - 10
7-117120176-AG-GC c.28_29delinsGC p.S10A Missense 1/27 - 47
7-117120176-AG-TT c.28_29delinsTT p.S10F Missense 1/27 - 4
7-117120176-A-T c.28A>T p.S10C Missense 1/27 - 20
7-117120177-G-A c.29G>A p.S10N Missense 1/27 - 3
7-117120178-C-A c.30C>A p.S10R Missense 1/27 - 1
7-117120178-C-G c.30C>G p.S10R Missense 1/27 - 1
7-117120178-C-T c.30C>T p.S10= Synonymous 1/27 - 2
7-117120178-GC-G c.30del p.S10Rfs*15 Frameshift 1/27 - 1
7-117120179-G-A c.31G>A p.V11I Missense 1/27 - 9
7-117120179-G-C c.31G>C p.V11L Missense 1/27 - 5
7-117120179-GT-TG c.31_32delinsTG p.V11C Missense 1/27 - 1
7-117120180-T-C c.32T>C p.V11A Missense 1/27 - 2
7-117120182-G-C c.34G>C p.V12L Missense 1/27 - 1
7-117120182-G-T c.34G>T p.V12F Missense 1/27 - 1
7-117120183-T-C c.35T>C p.V12A Missense 1/27 - 2
7-117120183-T-TTATCA c.35_36insTATCA p.S13Ifs*14 Frameshift 1/27 - 1
7-117120185-T-A c.37T>A p.S13T Missense 1/27 - 1
7-117120185-TC-CT c.37_38delinsCT p.S13L Missense 1/27 - 1
7-117120185-TC-GA c.37_38inv p.S13D Missense 1/27 - 3
7-117120185-T-G c.37T>G p.S13A Missense 1/27 - 14
7-117120186-C-A c.38C>A p.S13Y Missense 1/27 - 4
7-117120186-CC-AA c.38_39delinsAA p.S13* Nonsense 1/27 - 1
7-117120186-C-G c.38C>G p.S13C Missense 1/27 - 6
7-117120186-C-T c.38C>T p.S13F Missense 1/27 - 19
7-117120188-A-G c.40A>G p.K14E Missense 1/27 - 1
7-117120188-A-T c.40A>T p.K14* Nonsense 1/27 - 3
7-117120189-A-G c.41A>G p.K14R Missense 1/27 - 3
7-117120189-A-T c.41A>T p.K14I Missense 1/27 - 1
7-117120187-CA-C c.42del p.K14Nfs*11 Frameshift 1/27 - 1
7-117120191-AC-A c.43del p.L15Ffs*10 Frameshift 1/27 - 4
7-117120191-C-G c.43C>G p.L15V Missense 1/27 - 1
7-117120191-C-T c.43C>T p.L15F Missense 1/27 - 1
7-117120192-T-C c.44T>C p.L15P Missense 1/27 - 6
7-117120194-T-G c.46T>G p.F16V Missense 1/27 - 2
7-117120194-TTT-GAG c.46_48delinsGAG p.F16E Missense 1/27 - 1
7-117120195-T-C c.47T>C p.F16S Missense 1/27 - 1
7-117120195-T-G c.47T>G p.F16C Missense 1/27 - 1
7-117120196-T-TGC c.48_49insGC p.F17Afs*9 Frameshift 1/27 - 1
7-117120191-CTT-C c.49_50del p.F17Qfs*27 Frameshift 1/27 - 1
7-117120197-T-C c.49T>C p.F17L Missense 1/27 - 1
7-117120197-T-G c.49T>G p.F17V Missense 1/27 - 1
7-117120197-TT-AC c.49_50delinsAC p.F17T Missense 1/27 - 1
7-117120197-TTC-GAG c.49_51delinsGAG p.F17E Missense 1/27 - 1
7-117120191-C-CT c.50dup p.S18Qfs*27 Frameshift 1/27 - 3
7-117120191-CT-C c.50del p.F17Sfs*8 Frameshift 1/27 - 3
7-117120199-C-T c.51C>T p.F17= Synonymous 1/27 - 6
7-117120199-TC-T c.51del p.F17Lfs*8 Frameshift 1/27 - 1
7-117120200-A-G c.52A>G p.S18G Missense 1/27 - 3
7-117120200-AG-CC c.52_53delinsCC p.S18P Missense 1/27 - 1
7-117120200-AG-GC c.52_53delinsGC p.S18A Missense 1/27 - 9
7-117120200-AG-TA c.52_53delinsTA p.S18Y Missense 1/27 - 1
7-117120200-AG-TT c.52_53delinsTT p.S18F Missense 1/27 - 2
7-117120200-A-T c.52A>T p.S18C Missense 1/27 - 7
7-117120201-G-T c.53G>T p.S18I Missense 1/27 - 1
7-117120202-G-T c.53+1G>T - IntronicSNV - 1/26 7
7-117120203-T-G c.53+2T>G - IntronicSNV - 1/26 2
7-117120205-A-T c.53+4A>T - IntronicSNV - 1/26 1
7-117120229-A-G c.53+28A>G - IntronicSNV - 1/26 1
7-117120257-C-T c.53+56C>T - IntronicSNV - 1/26 1
7-117120675-T-C c.53+474T>C - IntronicSNV - 1/26 1
7-117122454-T-G c.53+2253T>G - IntronicSNV - 1/26 1
7-117122865-G-A c.53+2664G>A - IntronicSNV - 1/26 1
7-117122901-C-T c.53+2700C>T - IntronicSNV - 1/26 1
7-117123576-TA-T c.53+3384del - IntronicDeletion - 1/26 1
7-117123788-C-T c.53+3587C>T - IntronicSNV - 1/26 1
7-117125609-G-A c.53+5408G>A - IntronicSNV - 1/26 1
7-117125609-G-T c.53+5408G>T - IntronicSNV - 1/26 1
7-117126401-G-A c.53+6200G>A - IntronicSNV - 1/26 3
7-117126835-T-C c.53+6634T>C - IntronicSNV - 1/26 1
7-117127739-A-C c.53+7538A>C - IntronicSNV - 1/26 1
7-117128546-T-C c.53+8345T>C - IntronicSNV - 1/26 1
7-117128589-C-T c.53+8388C>T - IntronicSNV - 1/26 1
7-117128942-A-C c.53+8741A>C - IntronicSNV - 1/26 3
7-117129404-T-C c.53+9203T>C - IntronicSNV - 1/26 4
7-117129491-A-G c.53+9290A>G - IntronicSNV - 1/26 3
7-117129559-G-A c.53+9358G>A - IntronicSNV - 1/26 1
7-117129942-G-A c.53+9741G>A - IntronicSNV - 1/26 1
7-117130142-A-C c.53+9941A>C - IntronicSNV - 1/26 2
7-117130142-A-G c.53+9941A>G - IntronicSNV - 1/26 1
7-117130142-A-T c.53+9941A>T - IntronicSNV - 1/26 1
7-117130643-G-C c.53+10442G>C - IntronicSNV - 1/26 2
7-117130915-C-T c.53+10714C>T - IntronicSNV - 1/26 1
7-117131184-C-T c.53+10983C>T - IntronicSNV - 1/26 1
7-117131336-T-A c.53+11135T>A - IntronicSNV - 1/26 1
7-117132093-G-A c.53+11892G>A - IntronicSNV - 1/26 1
7-117132098-T-A c.53+11897T>A - IntronicSNV - 1/26 2
7-117132179-A-G c.53+11978A>G - IntronicSNV - 1/26 2
7-117132221-G-A c.53+12020G>A - IntronicSNV - 1/26 1
7-117132329-A-G c.54-11978A>G - IntronicSNV - 1/26 1
7-117132520-T-A c.54-11787T>A - IntronicSNV - 1/26 1
7-117132520-T-C c.54-11787T>C - IntronicSNV - 1/26 1
7-117132919-A-G c.54-11388A>G - IntronicSNV - 1/26 1
7-117133720-T-C c.54-10587T>C - IntronicSNV - 1/26 1
7-117133886-G-T c.54-10421G>T - IntronicSNV - 1/26 1
7-117134517-C-G c.54-9790C>G - IntronicSNV - 1/26 4
7-117134634-G-A c.54-9673G>A - IntronicSNV - 1/26 2
7-117134720-C-T c.54-9587C>T - IntronicSNV - 1/26 1
7-117135025-G-C c.54-9282G>C - IntronicSNV - 1/26 3
7-117135212-C-T c.54-9095C>T - IntronicSNV - 1/26 1
7-117136143-G-A c.54-8164G>A - IntronicSNV - 1/26 1
7-117136252-G-A c.54-8055G>A - IntronicSNV - 1/26 1
7-117136718-A-G c.54-7589A>G - IntronicSNV - 1/26 1
7-117136718-A-T c.54-7589A>T - IntronicSNV - 1/26 1
7-117136858-T-G c.54-7449T>G - IntronicSNV - 1/26 1
7-117137400-A-C c.54-6907A>C - IntronicSNV - 1/26 1
7-117137616-A-G c.54-6691A>G - IntronicSNV - 1/26 1
7-117138413-C-T c.54-5894C>T - IntronicSNV - 1/26 1
7-117138947-A-G c.54-5360A>G - IntronicSNV - 1/26 2
7-117139240-C-T c.54-5067C>T - IntronicSNV - 1/26 1
7-117140095-C-T c.54-4212C>T - IntronicSNV - 1/26 1
7-117140634-G-A c.54-3673G>A - IntronicSNV - 1/26 3
7-117140977-G-T c.54-3330G>T - IntronicSNV - 1/26 1
7-117141305-C-T c.54-3002C>T - IntronicSNV - 1/26 1
7-117141835-A-C c.54-2472A>C - IntronicSNV - 1/26 1
7-117142476-G-A c.54-1831G>A - IntronicSNV - 1/26 1
7-117143430-A-G c.54-877A>G - IntronicSNV - 1/26 1
7-117143569-A-G c.54-738A>G - IntronicSNV - 1/26 1
7-117143602-C-G c.54-705C>G - IntronicSNV - 1/26 4
7-117143718-A-G c.54-589A>G - IntronicSNV - 1/26 1
7-117120200-A-C c.52A>C p.S18R Missense 1/27 - 1
7-117144307-C-A c.54C>A p.S18R Missense 2/27 - 1
7-117144307-C-G c.54C>G p.S18R Missense 2/27 - 1
7-117144307-GCT-G c.54_55del p.S18Rfs*26 SpliceAcceptorDeletion 2/27 - 1
7-117144307-GCTGGACCAGACCAATTTTGAGGAAAGGATACAGACAGCGCCTGGAATTGTCAGACATAT-G c.54_112del p.S18Rfs*7 Unclassified 2/27 - 1
7-117144309-G-A c.56G>A p.W19* Nonsense 2/27 - 5
7-117144310-G-A c.57G>A p.W19* Nonsense 2/27 - 7
7-117144310-G-C c.57G>C p.W19C Missense 2/27 - 4
7-117144310-G-T c.57G>T p.W19C Missense 2/27 - 6
7-117144311-AC-TG c.58_59delinsTG p.T20C Missense 2/27 - 1
7-117144311-A-G c.58A>G p.T20A Missense 2/27 - 1
7-117144311-A-T c.58A>T p.T20S Missense 2/27 - 1
7-117144312-CC-AG c.59_60delinsAG p.T20K Missense 2/27 - 2
7-117144312-C-G c.59C>G p.T20S Missense 2/27 - 1
7-117144312-C-T c.59C>T p.T20I Missense 2/27 - 1
7-117144313-C-A c.60C>A p.T20= Synonymous 2/27 - 1
7-117144313-C-G c.60C>G p.T20= Synonymous 2/27 - 1
7-117144313-C-T c.60C>T p.T20= Synonymous 2/27 - 1
7-117144314-AGA-CAT c.61_63delinsCAT p.R21H Missense 2/27 - 1
7-117144314-AGA-TGT c.61_63delinsTGT p.R21C Missense 2/27 - 1
7-117144315-G-T c.62G>T p.R21I Missense 2/27 - 1
7-117144316-A-G c.63A>G p.R21= Synonymous 2/27 - 1
7-117144317-C-G c.64C>G p.P22A Missense 2/27 - 1
7-117144318-C-T c.65C>T p.P22L Missense 2/27 - 3
7-117144319-A-G c.66A>G p.P22= Synonymous 2/27 - 1
7-117144318-C-CA c.67dup p.I23Nfs*22 Frameshift 2/27 - 1
7-117144321-T-A c.68T>A p.I23N Missense 2/27 - 1
7-117144321-T-C c.68T>C p.I23T Missense 2/27 - 1
7-117144323-T-G c.70T>G p.L24V Missense 2/27 - 2
7-117144323-TTG-CAT c.70_72delinsCAT p.L24H Missense 2/27 - 1
7-117144325-G-C c.72G>C p.L24F Missense 2/27 - 1
7-117144326-AG-CA c.73_74delinsCA p.R25Q Missense 2/27 - 1
7-117144326-AG-GC c.73_74delinsGC p.R25A Missense 2/27 - 1
7-117144327-G-C c.74G>C p.R25T Missense 2/27 - 1
7-117144328-G-A c.75G>A p.R25= Synonymous 2/27 - 1
7-117144329-A-G c.76A>G p.K26E Missense 2/27 - 4
7-117144330-A-G c.77A>G p.K26R Missense 2/27 - 1
7-117144332-G-A c.79G>A p.G27R Missense 2/27 - 10
7-117144332-G-C c.79G>C p.G27R Missense 2/27 - 8
7-117144332-G-T c.79G>T p.G27* Nonsense 2/27 - 11
7-117144331-AG-A c.80del p.G27Dfs*64 Frameshift 2/27 - 1
7-117144333-G-A c.80G>A p.G27E Missense 2/27 - 3
7-117144333-G-T c.80G>T p.G27V Missense 2/27 - 3
7-117144335-T-C c.82T>C p.Y28H Missense 2/27 - 2
7-117144336-A-G c.83A>G p.Y28C Missense 2/27 - 2
7-117144337-AC-A c.84del p.Y28* Frameshift 2/27 - 1
7-117144337-C-T c.84C>T p.Y28= Synonymous 2/27 - 1
7-117144338-A-G c.85A>G p.R29G Missense 2/27 - 1
7-117144338-AGA-TGT c.85_87delinsTGT p.R29C Missense 2/27 - 2
7-117144338-AG-GC c.85_86delinsGC p.R29A Missense 2/27 - 1
7-117144338-A-T c.85A>T p.R29* Nonsense 2/27 - 2
7-117144339-G-A c.86G>A p.R29K Missense 2/27 - 18
7-117144339-G-C c.86G>C p.R29T Missense 2/27 - 1
7-117144339-G-T c.86G>T p.R29I Missense 2/27 - 1
7-117144340-A-G c.87A>G p.R29= Synonymous 2/27 - 1
7-117144341-C-G c.88C>G p.Q30E Missense 2/27 - 2
7-117144341-C-T c.88C>T p.Q30* Nonsense 2/27 - 3
7-117144342-A-G c.89A>G p.Q30R Missense 2/27 - 1
7-117144342-A-AG c.90dup p.R31Afs*14 Frameshift 2/27 - 1
7-117144343-AG-A c.90del p.Q30Hfs*61 Frameshift 2/27 - 1
7-117144343-G-A c.90G>A p.Q30= Synonymous 2/27 - 1
7-117144344-C-A c.91C>A p.R31S Missense 2/27 - 10
7-117144344-CG-AC c.91_92delinsAC p.R31T Missense 2/27 - 1
7-117144344-CGC-TGG c.91_93delinsTGG p.R31W Missense 2/27 - 1
7-117144344-C-T c.91C>T p.R31C Missense 2/27 - 51
7-117144345-G-A c.92G>A p.R31H Missense 2/27 - 8
7-117144345-G-C c.92G>C p.R31P Missense 2/27 - 1
7-117144345-G-T c.92G>T p.R31L Missense 2/27 - 11
7-117144346-C-A c.93C>A p.R31= Synonymous 2/27 - 2
7-117144346-C-CAGG c.93_94insAGG p.R31dup InFrameInsertion 2/27 - 1
7-117144346-C-G c.93C>G p.R31= Synonymous 2/27 - 1
7-117144346-C-T c.93C>T p.R31= Synonymous 2/27 - 1
7-117144347-C-A c.94C>A p.L32M Missense 2/27 - 4
7-117144347-C-T c.94C>T p.L32= Synonymous 2/27 - 1
7-117144348-T-C c.95T>C p.L32P Missense 2/27 - 10
7-117144348-T-G c.95T>G p.L32R Missense 2/27 - 1
7-117144350-G-A c.97G>A p.E33K Missense 2/27 - 1
7-117144350-G-C c.97G>C p.E33Q Missense 2/27 - 1
7-117144351-A-C c.98A>C p.E33A Missense 2/27 - 5
7-117144350-GAATTGTCAGACATATACC-G c.100_117del p.L34_Q39del InFrameDeletion 2/27 - 4
7-117144353-T-C c.100T>C p.L34= Synonymous 2/27 - 1
7-117144353-TTG-ATC c.100_102delinsATC p.L34I Missense 2/27 - 1
7-117144353-TTG-CAT c.100_102delinsCAT p.L34H Missense 2/27 - 1
7-117144355-G-A c.102G>A p.L34= Synonymous 2/27 - 1
7-117144354-T-G c.101T>G p.L34W Missense 2/27 - 1
7-117144353-TTGTCAGACATATACCAAA-T c.102_119del p.L34_I40delinsF MultiAAMissense 2/27 - 1
7-117144356-TCA-GAC c.103_105delinsGAC p.S35D Missense 2/27 - 1
7-117144356-TC-GG c.103_104delinsGG p.S35G Missense 2/27 - 1
7-117144357-CA-GT c.104_105delinsGT p.S35C Missense 2/27 - 1
7-117144357-C-T c.104C>T p.S35L Missense 2/27 - 1
7-117144357-C-CA c.105dup p.D36Rfs*9 Frameshift 2/27 - 1
7-117144359-G-A c.106G>A p.D36N Missense 2/27 - 2
7-117144359-GA-TT c.106_107delinsTT p.D36F Missense 2/27 - 1
7-117144360-A-C c.107A>C p.D36A Missense 2/27 - 1
7-117144361-AC-A c.108del p.D36Efs*55 Frameshift 2/27 - 1
7-117144361-C-A c.108C>A p.D36E Missense 2/27 - 1
7-117144362-A-G c.109A>G p.I37V Missense 2/27 - 2
7-117144362-A-T c.109A>T p.I37L Missense 2/27 - 1
7-117144363-T-G c.110T>G p.I37R Missense 2/27 - 4
7-117144364-A-C c.111A>C p.I37= Synonymous 2/27 - 1
7-117144364-A-G c.111A>G p.I37M Missense 2/27 - 1
7-117144364-A-T c.111A>T p.I37= Synonymous 2/27 - 1
7-117144361-CAT-C c.112_113del p.Y38Pfs*6 Frameshift 2/27 - 1
7-117144365-AT-A c.112del p.Y38Tfs*53 Frameshift 2/27 - 1
7-117144365-T-A c.112T>A p.Y38N Missense 2/27 - 3
7-117144365-T-C c.112T>C p.Y38H Missense 2/27 - 4
7-117144366-A-G c.113A>G p.Y38C Missense 2/27 - 2
7-117144366-A-T c.113A>T p.Y38F Missense 2/27 - 1
7-117144367-C-G c.114C>G p.Y38* Nonsense 2/27 - 2
7-117144368-C-A c.115C>A p.Q39K Missense 2/27 - 1
7-117144368-CCAA-C c.115_117del p.Q39del InFrameDeletion 2/27 - 1
7-117144368-C-T c.115C>T p.Q39* Nonsense 2/27 - 31
7-117144369-A-T c.116A>T p.Q39L Missense 2/27 - 1
7-117144370-A-C c.117A>C p.Q39H Missense 2/27 - 1
7-117144371-A-C c.118A>C p.I40L Missense 2/27 - 1
7-117144373-C-G c.120C>G p.I40M Missense 2/27 - 2
7-117144373-C-T c.120C>T p.I40= Synonymous 2/27 - 1
7-117144374-C-A c.121C>A p.P41T Missense 2/27 - 1
7-117144374-C-T c.121C>T p.P41S Missense 2/27 - 1
7-117144372-TC-T c.122del p.P41Lfs*50 Frameshift 2/27 - 15
7-117144375-C-A c.122C>A p.P41H Missense 2/27 - 1
7-117144376-T-G c.123T>G p.P41= Synonymous 2/27 - 1
7-117144377-T-C c.124T>C p.S42P Missense 2/27 - 1
7-117144378-C-A c.125C>A p.S42Y Missense 2/27 - 1
7-117144378-C-T c.125C>T p.S42F Missense 2/27 - 12
7-117144380-G-A c.127G>A p.V43I Missense 2/27 - 1
7-117144380-G-C c.127G>C p.V43L Missense 2/27 - 2
7-117144380-GTT-ATG c.127_129delinsATG p.V43M Missense 2/27 - 1
7-117144381-T-C c.128T>C p.V43A Missense 2/27 - 3
7-117144384-A-G c.131A>G p.D44G Missense 2/27 - 5
7-117144384-A-T c.131A>T p.D44V Missense 2/27 - 7
7-117144385-T-A c.132T>A p.D44E Missense 2/27 - 1
7-117144385-T-G c.132T>G p.D44E Missense 2/27 - 1
7-117144386-T-A c.133T>A p.S45T Missense 2/27 - 1
7-117144386-TC-CT c.133_134delinsCT p.S45L Missense 2/27 - 2
7-117144386-TC-GA c.133_134inv p.S45D Missense 2/27 - 2
7-117144386-T-G c.133T>G p.S45A Missense 2/27 - 4
7-117144387-C-A c.134C>A p.S45Y Missense 2/27 - 1
7-117144387-C-G c.134C>G p.S45C Missense 2/27 - 1
7-117144389-GC-TA c.136_137delinsTA p.A46Y Missense 2/27 - 1
7-117144390-C-A c.137C>A p.A46D Missense 2/27 - 13
7-117144390-C-T c.137C>T p.A46V Missense 2/27 - 5
7-117144392-G-A c.139G>A p.D47N Missense 2/27 - 1
7-117144392-G-T c.139G>T p.D47Y Missense 2/27 - 1
7-117144393-A-C c.140A>C p.D47A Missense 2/27 - 1
7-117144394-C-A c.141C>A p.D47E Missense 2/27 - 2
7-117144394-C-G c.141C>G p.D47E Missense 2/27 - 2
7-117144395-A-T c.142A>T p.N48Y Missense 2/27 - 1
7-117144397-T-A c.144T>A p.N48K Missense 2/27 - 2
7-117144397-T-G c.144T>G p.N48K Missense 2/27 - 3
7-117144399-T-C c.146T>C p.L49P Missense 2/27 - 2
7-117144398-C-T c.145C>T p.L49= Synonymous 2/27 - 1
7-117144400-A-C c.147A>C p.L49= Synonymous 2/27 - 3
7-117144400-A-G c.147A>G p.L49= Synonymous 2/27 - 6
7-117144400-A-T c.147A>T p.L49= Synonymous 2/27 - 1
7-117144401-T-C c.148T>C p.S50P Missense 2/27 - 3
7-117144401-T-G c.148T>G p.S50A Missense 2/27 - 1
7-117144401-T-TTGTC c.148_149insTGTC p.S50Lfs*3 Frameshift 2/27 - 1
7-117144402-C-A c.149C>A p.S50Y Missense 2/27 - 4
7-117144404-G-A c.151G>A p.E51K Missense 2/27 - 7
7-117144404-GAA-TGT c.151_153delinsTGT p.E51C Missense 2/27 - 1
7-117144404-G-C c.151G>C p.E51Q Missense 2/27 - 1
7-117144404-TGAA-T c.151_153del p.E51del InFrameDeletion 2/27 - 1
7-117144408-A-T c.155A>T p.K52I Missense 2/27 - 1
7-117144404-GA-G c.156del p.K52Nfs*39 Frameshift 2/27 - 1
7-117144404-G-GA c.156dup p.L53Ifs*7 Frameshift 2/27 - 2
7-117144409-AT-TA c.156_157delinsTA p.K52_L53delinsNM MultiAAMissense 2/27 - 1
7-117144410-T-C c.157T>C p.L53= Synonymous 2/27 - 2
7-117144410-T-G c.157T>G p.L53V Missense 2/27 - 1
7-117144412-G-A c.159G>A p.L53= Synonymous 2/27 - 3
7-117144413-G-A c.160G>A p.E54K Missense 2/27 - 1
7-117144413-G-T c.160G>T p.E54* Nonsense 2/27 - 1
7-117144414-A-C c.161A>C p.E54A Missense 2/27 - 1
7-117144414-A-G c.161A>G p.E54G Missense 2/27 - 1
7-117144415-A-G c.162A>G p.E54= Synonymous 2/27 - 1
7-117144416-A-G c.163A>G p.R55G Missense 2/27 - 1
7-117144417-G-A c.164G>A p.R55K Missense 2/27 - 2
7-117144417-G-C c.164G>C p.R55T Missense 2/27 - 1
7-117144418-G-A c.164+1G>A - IntronicSNV - 2/26 4
7-117144418-G-C c.164+1G>C - IntronicSNV - 2/26 3
7-117144418-G-T c.164+1G>T - IntronicSNV - 2/26 2
7-117144419-T-A c.164+2T>A - IntronicSNV - 2/26 1
7-117144419-T-C c.164+2T>C - IntronicSNV - 2/26 3
7-117144420-A-AT c.164+4dup - IntronicInsertion - 2/26 1
7-117144429-T-C c.164+12T>C - IntronicSNV - 2/26 5
7-117144445-A-G c.164+28A>G - IntronicSNV - 2/26 4
7-117145102-T-C c.164+685T>C - IntronicSNV - 2/26 1
7-117145365-T-C c.164+948T>C - IntronicSNV - 2/26 1
7-117145664-A-G c.164+1247A>G - IntronicSNV - 2/26 1
7-117146020-TG-T c.164+1603del - IntronicDeletion - 2/26 1
7-117146391-C-T c.164+1974C>T - IntronicSNV - 2/26 1
7-117146393-T-C c.164+1976T>C - IntronicSNV - 2/26 2
7-117146425-C-T c.164+2008C>T - IntronicSNV - 2/26 1
7-117146448-T-C c.164+2031T>C - IntronicSNV - 2/26 1
7-117146520-G-A c.164+2103G>A - IntronicSNV - 2/26 1
7-117146602-GA-G c.164+2187del - IntronicDeletion - 2/26 2
7-117146844-G-A c.165-2244G>A - IntronicSNV - 2/26 1
7-117146844-G-T c.165-2244G>T - IntronicSNV - 2/26 1
7-117146937-G-C c.165-2151G>C - IntronicSNV - 2/26 1
7-117147205-T-C c.165-1883T>C - IntronicSNV - 2/26 1
7-117147500-C-A c.165-1588C>A - IntronicSNV - 2/26 4
7-117147500-C-G c.165-1588C>G - IntronicSNV - 2/26 4
7-117147500-C-T c.165-1588C>T - IntronicSNV - 2/26 4
7-117147547-C-T c.165-1541C>T - IntronicSNV - 2/26 2
7-117149021-A-C c.165-67A>C - IntronicSNV - 2/26 1
7-117149085-C-A c.165-3C>A - IntronicSNV - 2/26 2
7-117149085-C-T c.165-3C>T - IntronicSNV - 2/26 2
7-117149087-G-A c.165-1G>A - IntronicSNV - 2/26 1
7-117149087-G-GA c.165dup p.E56Rfs*4 SpliceAcceptorInsertion 3/27 - 1
7-117149089-G-A c.166G>A p.E56K Missense 3/27 - 40
7-117149089-GA-CT c.166_167delinsCT p.E56L Missense 3/27 - 1
7-117149089-G-T c.166G>T p.E56* Nonsense 3/27 - 3
7-117149090-A-G c.167A>G p.E56G Missense 3/27 - 3
7-117149089-GA-G c.168del p.E56Dfs*35 Frameshift 3/27 - 2
7-117149091-A-G c.168A>G p.E56= Synonymous 3/27 - 2
7-117149092-T-A c.169T>A p.W57R Missense 3/27 - 1
7-117149092-T-C c.169T>C p.W57R Missense 3/27 - 5
7-117149092-T-G c.169T>G p.W57G Missense 3/27 - 7
7-117149092-TG-GC c.169_170delinsGC p.W57A Missense 3/27 - 1
7-117149093-G-A c.170G>A p.W57* Nonsense 3/27 - 11
7-117149094-G-A c.171G>A p.W57* Nonsense 3/27 - 16
7-117149094-G-C c.171G>C p.W57C Missense 3/27 - 4
7-117149094-G-T c.171G>T p.W57C Missense 3/27 - 4
7-117149095-G-A c.172G>A p.D58N Missense 3/27 - 13
7-117149095-G-C c.172G>C p.D58H Missense 3/27 - 3
7-117149095-GGAT-G c.172_174del p.D58del InFrameDeletion 3/27 - 1
7-117149096-A-C c.173A>C p.D58A Missense 3/27 - 2
7-117149096-A-G c.173A>G p.D58G Missense 3/27 - 5
7-117149096-A-T c.173A>T p.D58V Missense 3/27 - 4
7-117149094-GGATA-G c.174_177del p.D58Efs*32 Frameshift 3/27 - 4
7-117149097-T-TA c.175dup p.R59Kfs*10 Frameshift 3/27 - 5
7-117149098-A-G c.175A>G p.R59G Missense 3/27 - 1
7-117149098-AGA-TGT c.175_177delinsTGT p.R59C Missense 3/27 - 1
7-117149099-G-A c.176G>A p.R59K Missense 3/27 - 2
7-117149101-G-A c.178G>A p.E60K Missense 3/27 - 13
7-117149101-GAG-TAT c.178_180delinsTAT p.E60Y Missense 3/27 - 2
7-117149101-G-C c.178G>C p.E60Q Missense 3/27 - 1
7-117149101-G-T c.178G>T p.E60* Nonsense 3/27 - 68
7-117149097-TAG-T c.179_180del p.E60Afs*8 Frameshift 3/27 - 1
7-117149102-A-C c.179A>C p.E60A Missense 3/27 - 1
7-117149103-G-A c.180G>A p.E60= Synonymous 3/27 - 1
7-117149103-G-C c.180G>C p.E60D Missense 3/27 - 1
7-117149104-C-G c.181C>G p.L61V Missense 3/27 - 1
7-117149104-CTG-ATC c.181_183delinsATC p.L61I Missense 3/27 - 1
7-117149105-T-A c.182T>A p.L61Q Missense 3/27 - 1
7-117149105-T-C c.182T>C p.L61P Missense 3/27 - 1
7-117149105-T-G c.182T>G p.L61R Missense 3/27 - 2
7-117149106-G-T c.183G>T p.L61= Synonymous 3/27 - 2
7-117149107-GC-TT c.184_185delinsTT p.A62F Missense 3/27 - 1
7-117149108-C-T c.185C>T p.A62V Missense 3/27 - 2
7-117149108-CT-AG c.185_186inv p.A62E Missense 3/27 - 1
7-117149109-T-TA c.186_187insA p.S63Ifs*6 Frameshift 3/27 - 1
7-117149110-T-A c.187T>A p.S63T Missense 3/27 - 1
7-117149110-T-C c.187T>C p.S63P Missense 3/27 - 1
7-117149111-C-T c.188C>T p.S63L Missense 3/27 - 1
7-117149113-A-G c.190A>G p.K64E Missense 3/27 - 3
7-117149114-A-C c.191A>C p.K64T Missense 3/27 - 1
7-117149115-G-A c.192G>A p.K64= Synonymous 3/27 - 3
7-117149115-G-C c.192G>C p.K64N Missense 3/27 - 1
7-117149115-G-T c.192G>T p.K64N Missense 3/27 - 1
7-117149116-AAA-GAC c.193_195delinsGAC p.K65D Missense 3/27 - 1
7-117149116-A-C c.193A>C p.K65Q Missense 3/27 - 1
7-117149117-A-AT c.194_195insT p.K65Nfs*4 Frameshift 3/27 - 1
7-117149117-A-G c.194A>G p.K65R Missense 3/27 - 1
7-117149120-A-C c.197A>C p.N66T Missense 3/27 - 1
7-117149120-A-G c.197A>G p.N66S Missense 3/27 - 2
7-117149122-C-A c.199C>A p.P67T Missense 3/27 - 1
7-117149122-C-T c.199C>T p.P67S Missense 3/27 - 9
7-117149123-C-T c.200C>T p.P67L Missense 3/27 - 108
7-117149125-A-G c.202A>G p.K68E Missense 3/27 - 12
7-117149125-A-T c.202A>T p.K68* Nonsense 3/27 - 1
7-117149126-A-G c.203A>G p.K68R Missense 3/27 - 3
7-117149126-A-T c.203A>T p.K68I Missense 3/27 - 1
7-117149127-A-C c.204A>C p.K68N Missense 3/27 - 2
7-117149127-A-T c.204A>T p.K68N Missense 3/27 - 6
7-117149128-C-T c.205C>T p.L69F Missense 3/27 - 2
7-117149129-T-A c.206T>A p.L69H Missense 3/27 - 5
7-117149129-T-G c.206T>G p.L69R Missense 3/27 - 1
7-117149130-C-A c.207C>A p.L69= Synonymous 3/27 - 2
7-117149131-A-C c.208A>C p.I70L Missense 3/27 - 1
7-117149133-T-A c.210T>A p.I70= Synonymous 3/27 - 2
7-117149133-T-C c.210T>C p.I70= Synonymous 3/27 - 1
7-117149135-AT-GG c.212_213delinsGG p.N71R Missense 3/27 - 1
7-117149136-T-C c.213T>C p.N71= Synonymous 3/27 - 1
7-117149137-G-A c.214G>A p.A72T Missense 3/27 - 7
7-117149137-GCC-CAA c.214_216delinsCAA p.A72Q Missense 3/27 - 1
7-117149137-GC-CG c.214_215delinsCG p.A72R Missense 3/27 - 2
7-117149138-C-A c.215C>A p.A72D Missense 3/27 - 4
7-117149138-C-T c.215C>T p.A72V Missense 3/27 - 2
7-117149140-C-T c.217C>T p.L73F Missense 3/27 - 3
7-117149141-T-C c.218T>C p.L73P Missense 3/27 - 1
7-117149143-C-G c.220C>G p.R74G Missense 3/27 - 1
7-117149143-CG-GA c.220_221delinsGA p.R74E Missense 3/27 - 1
7-117149143-CG-GC c.220_221delinsGC p.R74A Missense 3/27 - 2
7-117149143-CGG-TGT c.220_222delinsTGT p.R74C Missense 3/27 - 1
7-117149143-C-T c.220C>T p.R74W Missense 3/27 - 98
7-117149144-G-A c.221G>A p.R74Q Missense 3/27 - 17
7-117149144-G-C c.221G>C p.R74P Missense 3/27 - 2
7-117149143-CG-C c.222del p.R75Dfs*16 Frameshift 3/27 - 1
7-117149146-C-A c.223C>A p.R75= Synonymous 3/27 - 3
7-117149146-C-G c.223C>G p.R75G Missense 3/27 - 2
7-117149146-CG-AA c.223_224delinsAA p.R75K Missense 3/27 - 1
7-117149146-CGA-TGT c.223_225delinsTGT p.R75C Missense 3/27 - 1
7-117149146-CG-GA c.223_224delinsGA p.R75E Missense 3/27 - 1
7-117149146-CG-GC c.223_224delinsGC p.R75A Missense 3/27 - 1
7-117149146-C-T c.223C>T p.R75* Nonsense 3/27 - 44
7-117149146-GC-G c.223del p.R75Dfs*16 Frameshift 3/27 - 1
7-117149148-A-C c.225A>C p.R75= Synonymous 3/27 - 3
7-117149148-A-G c.225A>G p.R75= Synonymous 3/27 - 3
7-117149148-A-T c.225A>T p.R75= Synonymous 3/27 - 3
7-117149147-G-A c.224G>A p.R75Q Missense 3/27 - 102
7-117149147-G-C c.224G>C p.R75P Missense 3/27 - 1
7-117149147-G-T c.224G>T p.R75L Missense 3/27 - 8
7-117149148-A-AT c.226dup p.C76Lfs*35 Frameshift 3/27 - 1
7-117149149-T-A c.226T>A p.C76S Missense 3/27 - 4
7-117149149-T-C c.226T>C p.C76R Missense 3/27 - 4
7-117149149-T-G c.226T>G p.C76G Missense 3/27 - 1
7-117149150-G-C c.227G>C p.C76S Missense 3/27 - 3
7-117149150-G-T c.227G>T p.C76F Missense 3/27 - 1
7-117149151-T-G c.228T>G p.C76W Missense 3/27 - 3
7-117149154-T-G c.231T>G p.F77L Missense 3/27 - 1
7-117149155-T-A c.232T>A p.F78I Missense 3/27 - 2
7-117149155-T-C c.232T>C p.F78L Missense 3/27 - 2
7-117149155-TT-GA c.232_233delinsGA p.F78D Missense 3/27 - 1
7-117149150-G-GT c.233dup p.W79Lfs*32 Frameshift 3/27 - 10
7-117149150-GT-G c.233del p.F78Sfs*13 Frameshift 3/27 - 2
7-117149156-T-A c.233T>A p.F78Y Missense 3/27 - 3
7-117149156-T-C c.233T>C p.F78S Missense 3/27 - 1
7-117149156-T-TC c.234dup p.W79Lfs*32 Frameshift 3/27 - 2
7-117149157-C-T c.234C>T p.F78= Synonymous 3/27 - 2
7-117149158-T-C c.235T>C p.W79R Missense 3/27 - 2
7-117149158-TG-GC c.235_236delinsGC p.W79A Missense 3/27 - 1
7-117149158-T-TA c.235_236insA p.W79* Nonsense 3/27 - 1
7-117149160-G-C c.237G>C p.W79C Missense 3/27 - 1
7-117149161-A-G c.238A>G p.R80G Missense 3/27 - 1
7-117149161-AG-GA c.238_239delinsGA p.R80E Missense 3/27 - 1
7-117149161-AG-GC c.238_239delinsGC p.R80A Missense 3/27 - 1
7-117149161-A-T c.238A>T p.R80* Nonsense 3/27 - 1
7-117149164-T-C c.241T>C p.F81L Missense 3/27 - 2
7-117149164-TT-GA c.241_242delinsGA p.F81D Missense 3/27 - 1
7-117149165-T-G c.242T>G p.F81C Missense 3/27 - 1
7-117149163-AT-A c.243del p.F81Lfs*10 Frameshift 3/27 - 1
7-117149167-A-C c.244A>C p.M82L Missense 3/27 - 2
7-117149167-A-G c.244A>G p.M82V Missense 3/27 - 2
7-117149167-A-T c.244A>T p.M82L Missense 3/27 - 6
7-117149167-ATG-TGT c.244_246delinsTGT p.M82C Missense 3/27 - 1
7-117149168-T-A c.245T>A p.M82K Missense 3/27 - 4
7-117149169-G-A c.246G>A p.M82I Missense 3/27 - 1
7-117149170-T-C c.247T>C p.F83L Missense 3/27 - 3
7-117149172-C-A c.249C>A p.F83L Missense 3/27 - 3
7-117149172-C-G c.249C>G p.F83L Missense 3/27 - 6
7-117149173-T-C c.250T>C p.Y84H Missense 3/27 - 2
7-117149174-A-G c.251A>G p.Y84C Missense 3/27 - 1
7-117149175-AT-A c.252del p.Y84* Frameshift 3/27 - 1
7-117149175-T-A c.252T>A p.Y84* Nonsense 3/27 - 2
7-117149175-T-C c.252T>C p.Y84= Synonymous 3/27 - 1
7-117149176-G-A c.253G>A p.G85R Missense 3/27 - 15
7-117149176-G-C c.253G>C p.G85R Missense 3/27 - 10
7-117149176-GGA-TGT c.253_255delinsTGT p.G85C Missense 3/27 - 1
7-117149176-G-T c.253G>T p.G85* Nonsense 3/27 - 1
7-117149177-G-A c.254G>A p.G85E Missense 3/27 - 227
7-117149177-G-C c.254G>C p.G85A Missense 3/27 - 1
7-117149177-G-T c.254G>T p.G85V Missense 3/27 - 14
7-117149179-A-G c.256A>G p.I86V Missense 3/27 - 5
7-117149180-T-A c.257T>A p.I86N Missense 3/27 - 1
7-117149181-C-A c.258C>A p.I86= Synonymous 3/27 - 3
7-117149182-T-A c.259T>A p.F87I Missense 3/27 - 3
7-117149182-T-C c.259T>C p.F87L Missense 3/27 - 6
7-117149184-T-A c.261T>A p.F87L Missense 3/27 - 6
7-117149184-T-G c.261T>G p.F87L Missense 3/27 - 6
7-117149183-T-C c.260T>C p.F87S Missense 3/27 - 1
7-117149183-T-G c.260T>G p.F87C Missense 3/27 - 3
7-117149181-CTT-C c.262_263del p.L88Ifs*22 Frameshift 3/27 - 29
7-117149185-T-A c.262T>A p.L88I Missense 3/27 - 1
7-117149185-TT-CC c.262_263delinsCC p.L88P Missense 3/27 - 1
7-117149181-CT-C c.263del p.L88Yfs*3 Frameshift 3/27 - 1
7-117149186-T-A c.263T>A p.L88* Nonsense 3/27 - 14
7-117149186-T-C c.263T>C p.L88S Missense 3/27 - 3
7-117149186-T-G c.263T>G p.L88* Nonsense 3/27 - 29
7-117149184-TTTATA-T c.264_268del p.L88Ffs*21 Frameshift 3/27 - 5
7-117149187-A-C c.264A>C p.L88F Missense 3/27 - 2
7-117149188-T-C c.265T>C p.Y89H Missense 3/27 - 1
7-117149188-T-G c.265T>G p.Y89D Missense 3/27 - 1
7-117149189-A-G c.266A>G p.Y89C Missense 3/27 - 3
7-117149190-T-C c.267T>C p.Y89= Synonymous 3/27 - 1
7-117149191-TT-CC c.268_269delinsCC p.L90P Missense 3/27 - 1
7-117149192-T-C c.269T>C p.L90S Missense 3/27 - 2
7-117149194-G-A c.271G>A p.G91R Missense 3/27 - 35
7-117149194-G-C c.271G>C p.G91R Missense 3/27 - 24
7-117149194-GGG-TGT c.271_273delinsTGT p.G91C Missense 3/27 - 2
7-117149195-G-A c.272G>A p.G91E Missense 3/27 - 5
7-117149195-G-C c.272G>C p.G91A Missense 3/27 - 1
7-117149195-G-T c.272G>T p.G91V Missense 3/27 - 1
7-117149196-G-A c.273G>A p.G91= Synonymous 3/27 - 9
7-117149196-G-C c.273G>C p.G91= Synonymous 3/27 - 6
7-117149196-G-GCCCTA c.273_273+1insCCCTA p.E92Pfs*2 SpliceDonorInsertion - - 1
7-117149196-G-T c.273G>T p.G91= Synonymous 3/27 - 3
7-117149197-G-A c.273+1G>A - IntronicSNV - 3/26 19
7-117149198-T-A c.273+2T>A - IntronicSNV - 3/26 2
7-117149199-A-C c.273+3A>C - IntronicSNV - 3/26 7
7-117149199-A-G c.273+3A>G - IntronicSNV - 3/26 1
7-117149200-A-G c.273+4A>G - IntronicSNV - 3/26 3
7-117149206-T-C c.273+10T>C - IntronicSNV - 3/26 1
7-117149282-T-C c.273+86T>C - IntronicSNV - 3/26 1
7-117149282-T-G c.273+86T>G - IntronicSNV - 3/26 1
7-117149761-T-C c.273+565T>C - IntronicSNV - 3/26 1
7-117150075-C-A c.273+879C>A - IntronicSNV - 3/26 3
7-117150084-A-G c.273+888A>G - IntronicSNV - 3/26 1
7-117150118-G-C c.273+922G>C - IntronicSNV - 3/26 2
7-117150129-C-T c.273+933C>T - IntronicSNV - 3/26 1
7-117150130-C-T c.273+934C>T - IntronicSNV - 3/26 1
7-117150312-C-T c.273+1116C>T - IntronicSNV - 3/26 1
7-117151216-A-C c.273+2020A>C - IntronicSNV - 3/26 1
7-117151828-A-C c.273+2632A>C - IntronicSNV - 3/26 3
7-117151914-G-C c.273+2718G>C - IntronicSNV - 3/26 1
7-117152303-T-A c.273+3107T>A - IntronicSNV - 3/26 1
7-117152409-C-A c.273+3213C>A - IntronicSNV - 3/26 1
7-117152409-C-T c.273+3213C>T - IntronicSNV - 3/26 1
7-117152675-G-A c.273+3479G>A - IntronicSNV - 3/26 1
7-117153246-T-C c.273+4050T>C - IntronicSNV - 3/26 1
7-117154159-G-A c.273+4963G>A - IntronicSNV - 3/26 4
7-117154437-C-T c.273+5241C>T - IntronicSNV - 3/26 1
7-117154998-A-C c.273+5802A>C - IntronicSNV - 3/26 1
7-117155052-GT-G c.273+5866del - IntronicDeletion - 3/26 1
7-117155205-T-C c.273+6009T>C - IntronicSNV - 3/26 1
7-117155650-G-C c.273+6454G>C - IntronicSNV - 3/26 1
7-117155654-T-C c.273+6458T>C - IntronicSNV - 3/26 1
7-117155843-A-G c.273+6647A>G - IntronicSNV - 3/26 2
7-117155843-A-T c.273+6647A>T - IntronicSNV - 3/26 2
7-117156216-G-A c.273+7020G>A - IntronicSNV - 3/26 1
7-117156341-T-C c.273+7145T>C - IntronicSNV - 3/26 2
7-117156439-T-A c.273+7243T>A - IntronicSNV - 3/26 1
7-117156439-T-C c.273+7243T>C - IntronicSNV - 3/26 1
7-117156923-T-G c.273+7727T>G - IntronicSNV - 3/26 1
7-117157553-C-T c.273+8357C>T - IntronicSNV - 3/26 1
7-117157874-T-C c.273+8678T>C - IntronicSNV - 3/26 1
7-117157880-C-CAT c.273+8685_273+8686dup - IntronicInsertion - 3/26 1
7-117158215-G-C c.273+9019G>C - IntronicSNV - 3/26 1
7-117158215-G-T c.273+9019G>T - IntronicSNV - 3/26 1
7-117158642-A-G c.273+9446A>G - IntronicSNV - 3/26 1
7-117159157-T-C c.273+9961T>C - IntronicSNV - 3/26 1
7-117159561-G-A c.273+10365G>A - IntronicSNV - 3/26 1
7-117159656-A-G c.273+10460A>G - IntronicSNV - 3/26 1
7-117159656-A-T c.273+10460A>T - IntronicSNV - 3/26 1
7-117160988-A-G c.274-9965A>G - IntronicSNV - 3/26 2
7-117160988-A-T c.274-9965A>T - IntronicSNV - 3/26 2
7-117161653-T-G c.274-9300T>G - IntronicSNV - 3/26 1
7-117162726-G-A c.274-8227G>A - IntronicSNV - 3/26 1
7-117162726-G-T c.274-8227G>T - IntronicSNV - 3/26 1
7-117162954-A-G c.274-7999A>G - IntronicSNV - 3/26 1
7-117163033-G-C c.274-7920G>C - IntronicSNV - 3/26 1
7-117163047-T-A c.274-7906T>A - IntronicSNV - 3/26 1
7-117163085-T-A c.274-7868T>A - IntronicSNV - 3/26 1
7-117163616-A-G c.274-7337A>G - IntronicSNV - 3/26 2
7-117163656-C-A c.274-7297C>A - IntronicSNV - 3/26 1
7-117163674-T-G c.274-7279T>G - IntronicSNV - 3/26 2
7-117164202-A-T c.274-6751A>T - IntronicSNV - 3/26 1
7-117164439-T-A c.274-6514T>A - IntronicSNV - 3/26 1
7-117164439-T-C c.274-6514T>C - IntronicSNV - 3/26 1
7-117164770-G-A c.274-6183G>A - IntronicSNV - 3/26 1
7-117164863-T-A c.274-6090T>A - IntronicSNV - 3/26 1
7-117164863-T-C c.274-6090T>C - IntronicSNV - 3/26 1
7-117164863-T-G c.274-6090T>G - IntronicSNV - 3/26 1
7-117165104-A-G c.274-5849A>G - IntronicSNV - 3/26 1
7-117165147-A-G c.274-5806A>G - IntronicSNV - 3/26 1
7-117165514-C-T c.274-5439C>T - IntronicSNV - 3/26 1
7-117166616-A-G c.274-4337A>G - IntronicSNV - 3/26 1
7-117169601-T-A c.274-1352T>A - IntronicSNV - 3/26 1
7-117169601-T-C c.274-1352T>C - IntronicSNV - 3/26 1
7-117170105-G-A c.274-848G>A - IntronicSNV - 3/26 1
7-117170437-A-G c.274-516A>G - IntronicSNV - 3/26 1
7-117170774-G-A c.274-179G>A - IntronicSNV - 3/26 3
7-117170947-T-C c.274-6T>C - IntronicSNV - 3/26 1
7-117170952-G-A c.274-1G>A - IntronicSNV - 3/26 5
7-117170952-G-C c.274-1G>C - IntronicSNV - 3/26 5
7-117170952-G-T c.274-1G>T - IntronicSNV - 3/26 5
7-117170953-G-A c.274G>A p.E92K Missense 4/27 - 79
7-117170953-GAA-AAC c.274_276delinsAAC p.E92N Missense 4/27 - 1
7-117170953-GA-AC c.274_275delinsAC p.E92T Missense 4/27 - 1
7-117170953-GA-AG c.274_275delinsAG p.E92R Missense 4/27 - 2
7-117170953-GAA-TGT c.274_276delinsTGT p.E92C Missense 4/27 - 3
7-117170953-G-C c.274G>C p.E92Q Missense 4/27 - 2
7-117170953-G-T c.274G>T p.E92* Nonsense 4/27 - 30
7-117170952-GGAAGTCACCAAAGCAGTACAGCCTCTCTTACTGGGAAGAATCATAGCTTCCTATGACCC-G c.275_333del p.E92Gfs*2 SpliceAcceptorDeletion 4/27 - 1
7-117170954-A-C c.275A>C p.E92A Missense 4/27 - 2
7-117170954-A-T c.275A>T p.E92V Missense 4/27 - 3
7-117170955-A-C c.276A>C p.E92D Missense 4/27 - 3
7-117170955-A-G c.276A>G p.E92= Synonymous 4/27 - 1
7-117170955-A-T c.276A>T p.E92D Missense 4/27 - 3
7-117170956-G-A c.277G>A p.V93I Missense 4/27 - 1
7-117170958-C-T c.279C>T p.V93= Synonymous 4/27 - 2
7-117170959-A-C c.280A>C p.T94P Missense 4/27 - 2
7-117170959-AC-CT c.280_281delinsCT p.T94L Missense 4/27 - 1
7-117170959-AC-TG c.280_281delinsTG p.T94C Missense 4/27 - 1
7-117170960-CC-GG c.281_282inv p.T94R Missense 4/27 - 1
7-117170960-C-T c.281C>T p.T94I Missense 4/27 - 3
7-117170961-C-A c.282C>A p.T94= Synonymous 4/27 - 1
7-117170961-C-G c.282C>G p.T94= Synonymous 4/27 - 1
7-117170962-AAA-GAC c.283_285delinsGAC p.K95D Missense 4/27 - 3
7-117170962-AAA-TGT c.283_285delinsTGT p.K95C Missense 4/27 - 9
7-117170962-AA-GC c.283_284delinsGC p.K95A Missense 4/27 - 1
7-117170962-A-C c.283A>C p.K95Q Missense 4/27 - 4
7-117170962-A-G c.283A>G p.K95E Missense 4/27 - 4
7-117170963-AA-GC c.284_285delinsGC p.K95S Missense 4/27 - 6
7-117170965-GCA-TGT c.286_288delinsTGT p.A96C Missense 4/27 - 1
7-117170965-GCA-TTT c.286_288delinsTTT p.A96F Missense 4/27 - 1
7-117170965-G-T c.286G>T p.A96S Missense 4/27 - 1
7-117170966-C-A c.287C>A p.A96E Missense 4/27 - 5
7-117170966-C-T c.287C>T p.A96V Missense 4/27 - 1
7-117170967-A-C c.288A>C p.A96= Synonymous 4/27 - 2
7-117170967-A-G c.288A>G p.A96= Synonymous 4/27 - 2
7-117170967-A-T c.288A>T p.A96= Synonymous 4/27 - 3
7-117170968-G-C c.289G>C p.V97L Missense 4/27 - 3
7-117170968-G-T c.289G>T p.V97L Missense 4/27 - 2
7-117170968-GT-AA c.289_290delinsAA p.V97K Missense 4/27 - 1
7-117170968-GTA-TGT c.289_291delinsTGT p.V97C Missense 4/27 - 1
7-117170968-GT-TC c.289_290delinsTC p.V97S Missense 4/27 - 1
7-117170969-T-C c.290T>C p.V97A Missense 4/27 - 2
7-117170971-C-A c.292C>A p.Q98K Missense 4/27 - 4
7-117170971-CAG-TGT c.292_294delinsTGT p.Q98C Missense 4/27 - 6
7-117170971-C-T c.292C>T p.Q98* Nonsense 4/27 - 22
7-117170972-A-C c.293A>C p.Q98P Missense 4/27 - 4
7-117170972-A-G c.293A>G p.Q98R Missense 4/27 - 39
7-117170973-G-A c.294G>A p.Q98= Synonymous 4/27 - 1
7-117170974-C-A c.295C>A p.P99T Missense 4/27 - 1
7-117170974-CC-TG c.295_296delinsTG p.P99C Missense 4/27 - 3
7-117170974-C-G c.295C>G p.P99A Missense 4/27 - 2
7-117170974-C-T c.295C>T p.P99S Missense 4/27 - 3
7-117170975-C-T c.296C>T p.P99L Missense 4/27 - 10
7-117170976-T-A c.297T>A p.P99= Synonymous 4/27 - 1
7-117170976-T-C c.297T>C p.P99= Synonymous 4/27 - 1
7-117170976-T-G c.297T>G p.P99= Synonymous 4/27 - 1
7-117170977-C-G c.298C>G p.L100V Missense 4/27 - 1
7-117170977-C-T c.298C>T p.L100F Missense 4/27 - 3
7-117170978-CT-C c.299del p.L100Pfs*7 Frameshift 4/27 - 2
7-117170978-T-G c.299T>G p.L100R Missense 4/27 - 2
7-117170979-C-A c.300C>A p.L100= Synonymous 4/27 - 3
7-117170980-TT-CC c.301_302delinsCC p.L101P Missense 4/27 - 1
7-117170981-TA-GT c.302_303delinsGT p.L101C Missense 4/27 - 1
7-117170981-T-C c.302T>C p.L101S Missense 4/27 - 2
7-117170981-T-G c.302T>G p.L101* Nonsense 4/27 - 4
7-117170981-T-TA c.303dup p.L102Tfs*9 Frameshift 4/27 - 1
7-117170982-A-C c.303A>C p.L101F Missense 4/27 - 1
7-117170982-A-T c.303A>T p.L101F Missense 4/27 - 2
7-117170983-C-A c.304C>A p.L102M Missense 4/27 - 1
7-117170983-CT-AC c.304_305delinsAC p.L102T Missense 4/27 - 1
7-117170983-CTG-TGT c.304_306delinsTGT p.L102C Missense 4/27 - 5
7-117170983-CT-TC c.304_305delinsTC p.L102S Missense 4/27 - 1
7-117170984-T-C c.305T>C p.L102P Missense 4/27 - 5
7-117170984-T-G c.305T>G p.L102R Missense 4/27 - 7
7-117170986-GGA-TGT c.307_309delinsTGT p.G103C Missense 4/27 - 2
7-117170987-G-A c.308G>A p.G103E Missense 4/27 - 7
7-117170987-G-C c.308G>C p.G103A Missense 4/27 - 1
7-117170987-GA-G c.310del p.R104Efs*3 Frameshift 4/27 - 1
7-117170989-A-G c.310A>G p.R104G Missense 4/27 - 2
7-117170989-AGA-TGT c.310_312delinsTGT p.R104C Missense 4/27 - 4
7-117170989-AG-CA c.310_311delinsCA p.R104Q Missense 4/27 - 1
7-117170989-AG-GA c.310_311delinsGA p.R104E Missense 4/27 - 1
7-117170990-G-A c.311G>A p.R104K Missense 4/27 - 4
7-117170990-G-C c.311G>C p.R104T Missense 4/27 - 5
7-117170990-G-T c.311G>T p.R104I Missense 4/27 - 1
7-117170991-A-C c.312A>C p.R104S Missense 4/27 - 1
7-117170990-GA-G c.313del p.I105Sfs*2 Frameshift 4/27 - 9
7-117170992-A-G c.313A>G p.I105V Missense 4/27 - 5
7-117170992-AT-TG c.313_314delinsTG p.I105C Missense 4/27 - 1
7-117170993-T-A c.314T>A p.I105N Missense 4/27 - 3
7-117170993-T-G c.314T>G p.I105S Missense 4/27 - 2
7-117170994-C-T c.315C>T p.I105= Synonymous 4/27 - 1
7-117170995-ATA-TGT c.316_318delinsTGT p.I106C Missense 4/27 - 2
7-117170995-AT-TA c.316_317delinsTA p.I106* Nonsense 4/27 - 1
7-117170996-T-TATA c.318_319insTAA p.I106_A107ins* InFrameInsertion 4/27 - 2
7-117170997-A-C c.318A>C p.I106= Synonymous 4/27 - 1
7-117170997-A-T c.318A>T p.I106= Synonymous 4/27 - 1
7-117170995-ATAGCTTCC-A c.319_326del p.A107* Frameshift 4/27 - 4
7-117170998-GC-TG c.319_320delinsTG p.A107C Missense 4/27 - 3
7-117170998-GCT-TAA c.319_321delinsTAA p.A107* Nonsense 4/27 - 3
7-117170999-C-A c.320C>A p.A107D Missense 4/27 - 2
7-117170999-C-G c.320C>G p.A107G Missense 4/27 - 1
7-117171000-T-G c.321T>G p.A107= Synonymous 4/27 - 1
7-117170999-C-CT c.322dup p.S108Ffs*3 Frameshift 4/27 - 1
7-117171001-T-C c.322T>C p.S108P Missense 4/27 - 1
7-117171002-C-A c.323C>A p.S108Y Missense 4/27 - 8
7-117171002-C-G c.323C>G p.S108C Missense 4/27 - 1
7-117171002-C-T c.323C>T p.S108F Missense 4/27 - 3
7-117171003-C-CGG c.324_325insGG p.Y109Gfs*16 Frameshift 4/27 - 1
7-117171004-T-A c.325T>A p.Y109N Missense 4/27 - 5
7-117171004-TA-GG c.325_326delinsGG p.Y109G Missense 4/27 - 1
7-117171004-TAT-G c.325_327delinsG p.Y109Gfs*4 Frameshift 4/27 - 4
7-117171004-T-C c.325T>C p.Y109H Missense 4/27 - 3
7-117171004-T-G c.325T>G p.Y109D Missense 4/27 - 4
7-117171005-A-G c.326A>G p.Y109C Missense 4/27 - 22
7-117171006-T-A c.327T>A p.Y109* Nonsense 4/27 - 3
7-117171006-T-C c.327T>C p.Y109= Synonymous 4/27 - 1
7-117171007-G-A c.328G>A p.D110N Missense 4/27 - 3
7-117171007-GA-CG c.328_329delinsCG p.D110R Missense 4/27 - 4
7-117171007-GA-TG c.328_329delinsTG p.D110C Missense 4/27 - 3
7-117171007-G-C c.328G>C p.D110H Missense 4/27 - 74
7-117171007-G-T c.328G>T p.D110Y Missense 4/27 - 5
7-117171008-A-C c.329A>C p.D110A Missense 4/27 - 2
7-117171008-A-G c.329A>G p.D110G Missense 4/27 - 1
7-117171009-C-A c.330C>A p.D110E Missense 4/27 - 30
7-117171009-C-G c.330C>G p.D110E Missense 4/27 - 23
7-117171010-C-A c.331C>A p.P111T Missense 4/27 - 1
7-117171010-C-G c.331C>G p.P111A Missense 4/27 - 2
7-117171010-C-T c.331C>T p.P111S Missense 4/27 - 1
7-117171011-C-A c.332C>A p.P111Q Missense 4/27 - 1
7-117171011-C-G c.332C>G p.P111R Missense 4/27 - 4
7-117171011-C-T c.332C>T p.P111L Missense 4/27 - 13
7-117171012-G-A c.333G>A p.P111= Synonymous 4/27 - 3
7-117171012-G-C c.333G>C p.P111= Synonymous 4/27 - 1
7-117171012-G-T c.333G>T p.P111= Synonymous 4/27 - 1
7-117171011-C-CG c.334dup p.D112Gfs*2 Frameshift 4/27 - 1
7-117171013-G-A c.334G>A p.D112N Missense 4/27 - 2
7-117171013-GA-CG c.334_335delinsCG p.D112R Missense 4/27 - 1
7-117171013-GA-TG c.334_335delinsTG p.D112C Missense 4/27 - 1
7-117171014-A-G c.335A>G p.D112G Missense 4/27 - 2
7-117171015-T-A c.336T>A p.D112E Missense 4/27 - 1
7-117171018-C-A c.339C>A p.N113K Missense 4/27 - 1
7-117171019-AAG-GAC c.340_342delinsGAC p.K114D Missense 4/27 - 1
7-117171019-AAG-TGT c.340_342delinsTGT p.K114C Missense 4/27 - 1
7-117171019-CAAG-C c.340_342del p.K114del InFrameDeletion 4/27 - 2
7-117171020-AAGGAGGAACGCTC-A c.341_353del p.K114Ifs*6 Frameshift 4/27 - 1
7-117171020-A-C c.341A>C p.K114T Missense 4/27 - 1
7-117171020-A-G c.341A>G p.K114R Missense 4/27 - 1
7-117171022-G-A c.343G>A p.E115K Missense 4/27 - 2
7-117171022-GA-AG c.343_344delinsAG p.E115R Missense 4/27 - 1
7-117171022-GAG-TGT c.343_345delinsTGT p.E115C Missense 4/27 - 1
7-117171019-AAGG-A c.345_347del p.E116del InFrameDeletion 4/27 - 2
7-117171025-G-A c.346G>A p.E116K Missense 4/27 - 14
7-117171025-GA-AG c.346_347delinsAG p.E116R Missense 4/27 - 3
7-117171025-GAA-TGT c.346_348delinsTGT p.E116C Missense 4/27 - 2
7-117171025-G-C c.346G>C p.E116Q Missense 4/27 - 4
7-117171025-G-T c.346G>T p.E116* Nonsense 4/27 - 1
7-117171026-A-C c.347A>C p.E116A Missense 4/27 - 1
7-117171026-A-G c.347A>G p.E116G Missense 4/27 - 2
7-117171027-A-C c.348A>C p.E116D Missense 4/27 - 2
7-117171027-A-T c.348A>T p.E116D Missense 4/27 - 1
7-117171028-C-A c.349C>A p.R117S Missense 4/27 - 6
7-117171028-C-G c.349C>G p.R117G Missense 4/27 - 12
7-117171028-CGC-AAG c.349_351delinsAAG p.R117K Missense 4/27 - 1
7-117171028-CGC-GAG c.349_351delinsGAG p.R117E Missense 4/27 - 2
7-117171028-CG-GC c.349_350delinsGC p.R117A Missense 4/27 - 4
7-117171028-C-T c.349C>T p.R117C Missense 4/27 - 86
7-117171029-G-A c.350G>A p.R117H Missense 4/27 - 549
7-117171029-G-C c.350G>C p.R117P Missense 4/27 - 17
7-117171029-GC-AA c.350_351delinsAA p.R117Q Missense 4/27 - 2
7-117171029-G-T c.350G>T p.R117L Missense 4/27 - 19
7-117171030-C-A c.351C>A p.R117= Synonymous 4/27 - 1
7-117171030-C-G c.351C>G p.R117= Synonymous 4/27 - 1
7-117171030-C-T c.351C>T p.R117= Synonymous 4/27 - 1
7-117171031-T-A c.352T>A p.S118T Missense 4/27 - 1
7-117171032-C-A c.353C>A p.S118Y Missense 4/27 - 1
7-117171032-C-G c.353C>G p.S118C Missense 4/27 - 2
7-117171032-C-T c.353C>T p.S118F Missense 4/27 - 2
7-117171033-T-A c.354T>A p.S118= Synonymous 4/27 - 1
7-117171033-T-C c.354T>C p.S118= Synonymous 4/27 - 1
7-117171033-T-G c.354T>G p.S118= Synonymous 4/27 - 1
7-117171034-A-G c.355A>G p.I119V Missense 4/27 - 2
7-117171034-TA-T c.355del p.I119Sfs*5 Frameshift 4/27 - 1
7-117171036-C-A c.357C>A p.I119= Synonymous 4/27 - 4
7-117171036-C-G c.357C>G p.I119M Missense 4/27 - 3
7-117171036-C-T c.357C>T p.I119= Synonymous 4/27 - 4
7-117171036-TC-T c.357del p.I119Mfs*5 Frameshift 4/27 - 1
7-117171037-G-A c.358G>A p.A120T Missense 4/27 - 24
7-117171037-G-C c.358G>C p.A120P Missense 4/27 - 4
7-117171037-GCG-TGT c.358_360delinsTGT p.A120C Missense 4/27 - 1
7-117171037-G-T c.358G>T p.A120S Missense 4/27 - 4
7-117171038-C-T c.359C>T p.A120V Missense 4/27 - 4
7-117171039-G-A c.360G>A p.A120= Synonymous 4/27 - 13
7-117171039-G-C c.360G>C p.A120= Synonymous 4/27 - 4
7-117171039-G-T c.360G>T p.A120= Synonymous 4/27 - 4
7-117171040-A-G c.361A>G p.I121V Missense 4/27 - 3
7-117171040-A-T c.361A>T p.I121F Missense 4/27 - 1
7-117171043-TAT-AAG c.364_366delinsAAG p.Y122K Missense 4/27 - 1
7-117171043-TAT-CAA c.364_366delinsCAA p.Y122Q Missense 4/27 - 1
7-117171043-T-C c.364T>C p.Y122H Missense 4/27 - 5
7-117171044-A-G c.365A>G p.Y122C Missense 4/27 - 3
7-117171045-T-A c.366T>A p.Y122* Nonsense 4/27 - 58
7-117171045-T-C c.366T>C p.Y122= Synonymous 4/27 - 1
7-117171045-T-G c.366T>G p.Y122* Nonsense 4/27 - 43
7-117171046-C-G c.367C>G p.L123V Missense 4/27 - 2
7-117171046-C-T c.367C>T p.L123= Synonymous 4/27 - 3
7-117171048-A-C c.369A>C p.L123= Synonymous 4/27 - 2
7-117171048-A-G c.369A>G p.L123= Synonymous 4/27 - 2
7-117171048-A-T c.369A>T p.L123= Synonymous 4/27 - 2
7-117171049-G-A c.370G>A p.G124S Missense 4/27 - 1
7-117171049-G-C c.370G>C p.G124R Missense 4/27 - 3
7-117171049-G-T c.370G>T p.G124C Missense 4/27 - 1
7-117171050-G-A c.371G>A p.G124D Missense 4/27 - 1
7-117171050-GC-AG c.371_372delinsAG p.G124E Missense 4/27 - 1
7-117171050-G-T c.371G>T p.G124V Missense 4/27 - 1
7-117171052-A-G c.373A>G p.I125V Missense 4/27 - 2
7-117171052-A-T c.373A>T p.I125L Missense 4/27 - 1
7-117171053-T-C c.374T>C p.I125T Missense 4/27 - 25
7-117171053-T-G c.374T>G p.I125R Missense 4/27 - 3
7-117171054-A-C c.375A>C p.I125= Synonymous 4/27 - 1
7-117171054-A-T c.375A>T p.I125= Synonymous 4/27 - 1
7-117171055-G-A c.376G>A p.G126S Missense 4/27 - 6
7-117171055-G-C c.376G>C p.G126R Missense 4/27 - 3
7-117171056-G-A c.377G>A p.G126D Missense 4/27 - 15
7-117171056-G-C c.377G>C p.G126A Missense 4/27 - 2
7-117171056-GC-AG c.377_378delinsAG p.G126E Missense 4/27 - 1
7-117171056-G-T c.377G>T p.G126V Missense 4/27 - 1
7-117171057-C-A c.378C>A p.G126= Synonymous 4/27 - 2
7-117171057-C-G c.378C>G p.G126= Synonymous 4/27 - 2
7-117171057-C-T c.378C>T p.G126= Synonymous 4/27 - 2
7-117171058-T-C c.379T>C p.L127= Synonymous 4/27 - 2
7-117171058-T-G c.379T>G p.L127V Missense 4/27 - 2
7-117171060-A-G c.381A>G p.L127= Synonymous 4/27 - 2
7-117171057-C-CTTA c.380_382dup p.L127dup InFrameInsertion 4/27 - 1
7-117171059-T-C c.380T>C p.L127S Missense 4/27 - 1
7-117171059-T-G c.380T>G p.L127* Nonsense 4/27 - 2
7-117171061-T-A c.382T>A p.C128S Missense 4/27 - 2
7-117171062-G-C c.383G>C p.C128S Missense 4/27 - 3
7-117171062-G-GGCTCC c.383_384insGCTCC p.C128Wfs*8 Frameshift 4/27 - 1
7-117171063-C-G c.384C>G p.C128W Missense 4/27 - 1
7-117171063-C-T c.384C>T p.C128= Synonymous 4/27 - 1
7-117171064-C-T c.385C>T p.L129F Missense 4/27 - 1
7-117171065-T-A c.386T>A p.L129H Missense 4/27 - 2
7-117171066-T-C c.387T>C p.L129= Synonymous 4/27 - 1
7-117171067-C-A c.388C>A p.L130I Missense 4/27 - 4
7-117171067-C-G c.388C>G p.L130V Missense 4/27 - 4
7-117171067-C-T c.388C>T p.L130F Missense 4/27 - 3
7-117171067-CT-AG c.388_389inv p.L130S Missense 4/27 - 1
7-117171067-TC-T c.388del p.L130Sfs*4 Frameshift 4/27 - 1
7-117171068-T-A c.389T>A p.L130H Missense 4/27 - 1
7-117171068-T-C c.389T>C p.L130P Missense 4/27 - 1
7-117171069-C-A c.390C>A p.L130= Synonymous 4/27 - 1
7-117171069-C-G c.390C>G p.L130= Synonymous 4/27 - 1
7-117171069-C-T c.390C>T p.L130= Synonymous 4/27 - 2
7-117171070-T-C c.391T>C p.F131L Missense 4/27 - 2
7-117171072-T-C c.393T>C p.F131= Synonymous 4/27 - 2
7-117171073-A-G c.394A>G p.I132V Missense 4/27 - 2
7-117171073-AT-TG c.394_395delinsTG p.I132C Missense 4/27 - 1
7-117171074-ATT-A c.395_396del p.I132Sfs*26 Frameshift 4/27 - 1
7-117171074-T-C c.395T>C p.I132T Missense 4/27 - 2
7-117171073-A-AT c.396dup p.V133Cfs*26 Frameshift 4/27 - 1
7-117171076-G-C c.397G>C p.V133L Missense 4/27 - 1
7-117171076-G-T c.397G>T p.V133L Missense 4/27 - 1
7-117171077-T-TG c.399dup p.R134Efs*25 Frameshift 4/27 - 1
7-117171078-G-GT c.399_400insT p.R134* Nonsense 4/27 - 1
7-117171079-A-G c.400A>G p.R134G Missense 4/27 - 6
7-117171079-AG-CA c.400_401delinsCA p.R134Q Missense 4/27 - 2
7-117171079-AG-GA c.400_401delinsGA p.R134E Missense 4/27 - 1
7-117171079-AG-GC c.400_401delinsGC p.R134A Missense 4/27 - 1
7-117171079-AGG-CAT c.400_402delinsCAT p.R134H Missense 4/27 - 1
7-117171079-AGG-TGT c.400_402delinsTGT p.R134C Missense 4/27 - 2
7-117171079-A-T c.400A>T p.R134W Missense 4/27 - 1
7-117171080-G-A c.401G>A p.R134K Missense 4/27 - 2
7-117171079-A-C c.400A>C p.R134= Synonymous 4/27 - 2
7-117171081-G-A c.402G>A p.R134= Synonymous 4/27 - 3
7-117171082-A-C c.403A>C p.T135P Missense 4/27 - 1
7-117171082-ACA-TGT c.403_405inv p.T135C Missense 4/27 - 1
7-117171082-AC-CT c.403_404delinsCT p.T135L Missense 4/27 - 1
7-117171082-A-G c.403A>G p.T135A Missense 4/27 - 2
7-117171082-A-T c.403A>T p.T135S Missense 4/27 - 2
7-117171083-CA-TG c.404_405inv p.T135M Missense 4/27 - 1
7-117171083-C-T c.404C>T p.T135I Missense 4/27 - 1
7-117171084-A-C c.405A>C p.T135= Synonymous 4/27 - 1
7-117171085-C-T c.406C>T p.L136= Synonymous 4/27 - 2
7-117171086-T-C c.407T>C p.L136P Missense 4/27 - 1
7-117171086-T-G c.407T>G p.L136R Missense 4/27 - 1
7-117171088-C-T c.409C>T p.L137F Missense 4/27 - 3
7-117171088-GC-G c.409del p.L137Sfs*16 Frameshift 4/27 - 2
7-117171088-GCTCC-G c.409_412del p.L137Yfs*15 Frameshift 4/27 - 1
7-117171089-CTCCT-C c.410_413del p.L137Hfs*15 Frameshift 4/27 - 1
7-117171089-T-A c.410T>A p.L137H Missense 4/27 - 1
7-117171089-T-C c.410T>C p.L137P Missense 4/27 - 2
7-117171090-C-T c.411C>T p.L137= Synonymous 4/27 - 1
7-117171091-C-CACT c.412_413insACT p.L137_L138insH InFrameInsertion 4/27 - 3
7-117171091-C-G c.412C>G p.L138V Missense 4/27 - 1
7-117171091-C-T c.412C>T p.L138= Synonymous 4/27 - 3
7-117171091-CTA-TGT c.412_414delinsTGT p.L138C Missense 4/27 - 1
7-117171091-CT-TA c.412_413delinsTA p.L138* Nonsense 4/27 - 1
7-117171090-C-CCTA c.413_415dup p.L138dup InFrameInsertion 4/27 - 4
7-117171092-T-A c.413T>A p.L138Q Missense 4/27 - 1
7-117171092-T-C c.413T>C p.L138P Missense 4/27 - 6
7-117171093-A-ACTT c.415_416insTTC p.L138dup InFrameInsertion 4/27 - 2
7-117171094-CA-TG c.415_416inv p.H139C Missense 4/27 - 1
7-117171094-C-CGA c.415_416insGA p.H139Rfs*15 Frameshift 4/27 - 3
7-117171094-C-G c.415C>G p.H139D Missense 4/27 - 1
7-117171094-C-T c.415C>T p.H139Y Missense 4/27 - 2
7-117171095-A-C c.416A>C p.H139P Missense 4/27 - 2
7-117171095-A-G c.416A>G p.H139R Missense 4/27 - 12
7-117171095-A-T c.416A>T p.H139L Missense 4/27 - 17
7-117171096-C-T c.417C>T p.H139= Synonymous 4/27 - 1
7-117171097-CCA-TGT c.418_420delinsTGT p.P140C Missense 4/27 - 1
7-117171097-C-T c.418C>T p.P140S Missense 4/27 - 8
7-117171098-C-G c.419C>G p.P140R Missense 4/27 - 4
7-117171098-C-T c.419C>T p.P140L Missense 4/27 - 4
7-117171099-A-C c.420A>C p.P140= Synonymous 4/27 - 1
7-117171099-A-G c.420A>G p.P140= Synonymous 4/27 - 1
7-117171099-A-T c.420A>T p.P140= Synonymous 4/27 - 1
7-117171100-G-A c.421G>A p.A141T Missense 4/27 - 2
7-117171100-G-T c.421G>T p.A141S Missense 4/27 - 2
7-117171101-C-A c.422C>A p.A141D Missense 4/27 - 6
7-117171102-C-A c.423C>A p.A141= Synonymous 4/27 - 1
7-117171102-C-G c.423C>G p.A141= Synonymous 4/27 - 1
7-117171102-C-T c.423C>T p.A141= Synonymous 4/27 - 1
7-117171103-AT-TG c.424_425delinsTG p.I142C Missense 4/27 - 1
7-117171103-CA-C c.424del p.I142Ffs*11 Frameshift 4/27 - 1
7-117171106-T-C c.427T>C p.F143L Missense 4/27 - 1
7-117171106-TTT-AAG c.427_429delinsAAG p.F143K Missense 4/27 - 1
7-117171108-T-A c.429T>A p.F143L Missense 4/27 - 1
7-117171108-T-G c.429T>G p.F143L Missense 4/27 - 1
7-117171107-T-G c.428T>G p.F143C Missense 4/27 - 1
7-117171103-AT-A c.429del p.F143Lfs*10 Frameshift 4/27 - 1
7-117171109-G-A c.430G>A p.G144S Missense 4/27 - 1
7-117171109-G-T c.430G>T p.G144C Missense 4/27 - 1
7-117171110-G-A c.431G>A p.G144D Missense 4/27 - 1
7-117171111-C-T c.432C>T p.G144= Synonymous 4/27 - 1
7-117171110-GC-G c.433del p.L145Ffs*8 Frameshift 4/27 - 1
7-117171112-C-G c.433C>G p.L145V Missense 4/27 - 1
7-117171113-T-A c.434T>A p.L145H Missense 4/27 - 1
7-117171115-C-T c.436C>T p.H146Y Missense 4/27 - 2
7-117171113-TTCA-T c.438_440del p.H147del InFrameDeletion 4/27 - 1
7-117171117-T-A c.438T>A p.H146Q Missense 4/27 - 1
7-117171117-T-G c.438T>G p.H146Q Missense 4/27 - 1
7-117171118-C-A c.439C>A p.H147N Missense 4/27 - 1
7-117171118-CA-TG c.439_440inv p.H147C Missense 4/27 - 1
7-117171118-C-T c.439C>T p.H147Y Missense 4/27 - 1
7-117171119-A-C c.440A>C p.H147P Missense 4/27 - 1
7-117171120-C-G c.441C>G p.H147Q Missense 4/27 - 2
7-117171121-CA-C c.442del p.I148Lfs*5 Frameshift 4/27 - 9
7-117171122-T-A c.443T>A p.I148N Missense 4/27 - 3
7-117171122-T-C c.443T>C p.I148T Missense 4/27 - 82
7-117171123-T-A c.444T>A p.I148= Synonymous 4/27 - 3
7-117171123-T-C c.444T>C p.I148= Synonymous 4/27 - 3
7-117171123-T-G c.444T>G p.I148M Missense 4/27 - 2
7-117171124-G-A c.445G>A p.G149R Missense 4/27 - 7
7-117171124-G-C c.445G>C p.G149R Missense 4/27 - 4
7-117171124-GGA-TGT c.445_447delinsTGT p.G149C Missense 4/27 - 1
7-117171124-G-T c.445G>T p.G149* Nonsense 4/27 - 2
7-117171125-G-A c.446G>A p.G149E Missense 4/27 - 6
7-117171127-A-C c.448A>C p.M150L Missense 4/27 - 1
7-117171127-A-G c.448A>G p.M150V Missense 4/27 - 1
7-117171127-A-T c.448A>T p.M150L Missense 4/27 - 1
7-117171128-T-A c.449T>A p.M150K Missense 4/27 - 2
7-117171129-G-A c.450G>A p.M150I Missense 4/27 - 2
7-117171130-C-A c.451C>A p.Q151K Missense 4/27 - 3
7-117171130-C-T c.451C>T p.Q151* Nonsense 4/27 - 4
7-117171131-A-C c.452A>C p.Q151P Missense 4/27 - 2
7-117171131-A-G c.452A>G p.Q151R Missense 4/27 - 1
7-117171132-G-C c.453G>C p.Q151H Missense 4/27 - 5
7-117171132-G-T c.453G>T p.Q151H Missense 4/27 - 4
7-117171130-CAGATGAGAATAGCTATGTTTAGTTTGATTTATAAGA-C c.454_489del p.M152_K163del InFrameDeletion 4/27 - 1
7-117171133-A-G c.454A>G p.M152V Missense 4/27 - 10
7-117171133-A-T c.454A>T p.M152L Missense 4/27 - 2
7-117171134-T-G c.455T>G p.M152R Missense 4/27 - 1
7-117171135-G-C c.456G>C p.M152I Missense 4/27 - 1
7-117171136-AGA-CAT c.457_459delinsCAT p.R153H Missense 4/27 - 2
7-117171136-AGA-TGT c.457_459delinsTGT p.R153C Missense 4/27 - 2
7-117171136-AG-CA c.457_458delinsCA p.R153Q Missense 4/27 - 1
7-117171137-G-A c.458G>A p.R153K Missense 4/27 - 1
7-117171137-G-T c.458G>T p.R153I Missense 4/27 - 3
7-117171138-GAATAGCTATGTTTAGTTT-G c.459_476del p.A155_I160del InFrameDeletion 4/27 - 1
7-117171139-A-T c.460A>T p.I154L Missense 4/27 - 1
7-117171139-A-AT c.461dup p.A155Sfs*4 Frameshift 4/27 - 1
7-117171140-T-C c.461T>C p.I154T Missense 4/27 - 2
7-117171140-T-G c.461T>G p.I154R Missense 4/27 - 1
7-117171138-AATAGCTATGTTTAGTTTG-A c.462_479del p.A155_I160del InFrameDeletion 4/27 - 1
7-117171142-G-A c.463G>A p.A155T Missense 4/27 - 1
7-117171142-G-C c.463G>C p.A155P Missense 4/27 - 1
7-117171142-G-T c.463G>T p.A155S Missense 4/27 - 1
7-117171143-C-G c.464C>G p.A155G Missense 4/27 - 1
7-117171145-A-G c.466A>G p.M156V Missense 4/27 - 3
7-117171146-T-G c.467T>G p.M156R Missense 4/27 - 3
7-117171147-G-A c.468G>A p.M156I Missense 4/27 - 1
7-117171147-G-GTAA c.469_470insAAT p.M156_F157ins* InFrameInsertion 4/27 - 1
7-117171147-GTTTAGTTTGATTTA-G c.470_483del p.F157* Frameshift 4/27 - 2
7-117171149-T-G c.470T>G p.F157C Missense 4/27 - 3
7-117171150-T-TA c.472dup p.S158Kfs*5 Frameshift 4/27 - 4
7-117171151-A-C c.472A>C p.S158R Missense 4/27 - 3
7-117171151-A-G c.472A>G p.S158G Missense 4/27 - 3
7-117171151-AG-CT c.472_473inv p.S158L Missense 4/27 - 1
7-117171151-AGT-GAG c.472_474delinsGAG p.S158E Missense 4/27 - 1
7-117171151-AG-TT c.472_473delinsTT p.S158F Missense 4/27 - 1
7-117171151-A-T c.472A>T p.S158C Missense 4/27 - 2
7-117171152-AG-A c.473del p.S158Ifs*2 Frameshift 4/27 - 1
7-117171152-AGT-A c.473_474del p.S158Ifs*4 Frameshift 4/27 - 1
7-117171152-G-A c.473G>A p.S158N Missense 4/27 - 8
7-117171152-G-C c.473G>C p.S158T Missense 4/27 - 8
7-117171153-T-C c.474T>C p.S158= Synonymous 4/27 - 1
7-117171154-T-C c.475T>C p.L159= Synonymous 4/27 - 3
7-117171156-G-A c.477G>A p.L159= Synonymous 4/27 - 4
7-117171155-T-A c.476T>A p.L159* Nonsense 4/27 - 1
7-117171155-T-C c.476T>C p.L159S Missense 4/27 - 6
7-117171157-A-G c.478A>G p.I160V Missense 4/27 - 1
7-117171159-T-A c.480T>A p.I160= Synonymous 4/27 - 2
7-117171159-T-C c.480T>C p.I160= Synonymous 4/27 - 1
7-117171157-AT-A c.481del p.Y161Ifs*5 Frameshift 4/27 - 1
7-117171160-T-A c.481T>A p.Y161N Missense 4/27 - 1
7-117171160-T-G c.481T>G p.Y161D Missense 4/27 - 3
7-117171161-A-C c.482A>C p.Y161S Missense 4/27 - 4
7-117171161-A-G c.482A>G p.Y161C Missense 4/27 - 6
7-117171161-TA-T c.482del p.Y161Lfs*5 Frameshift 4/27 - 1
7-117171162-T-TCC c.483_484insCC p.K162Pfs*5 Frameshift 4/27 - 1
7-117171163-A-T c.484A>T p.K162* Nonsense 4/27 - 5
7-117171165-G-T c.486G>T p.K162N Missense 4/27 - 1
7-117171166-A-C c.487A>C p.K163Q Missense 4/27 - 1
7-117171166-A-G c.487A>G p.K163E Missense 4/27 - 1
7-117171165-GA-G c.488del p.K163Rfs*3 Frameshift 4/27 - 1
7-117171169-G-A c.489+1G>A - IntronicSNV - 4/26 2
7-117171169-G-T c.489+1G>T - IntronicSNV - 4/26 60
7-117171170-T-C c.489+2T>C - IntronicSNV - 4/26 3
7-117171171-A-G c.489+3A>G - IntronicSNV - 4/26 7
7-117171259-A-C c.489+91A>C - IntronicSNV - 4/26 1
7-117171259-A-G c.489+91A>G - IntronicSNV - 4/26 2
7-117171264-A-G c.489+96A>G - IntronicSNV - 4/26 1
7-117171754-T-C c.489+586T>C - IntronicSNV - 4/26 1
7-117172221-G-A c.489+1053G>A - IntronicSNV - 4/26 1
7-117172257-G-A c.489+1089G>A - IntronicSNV - 4/26 1
7-117172269-T-A c.489+1101T>A - IntronicSNV - 4/26 1
7-117172269-T-G c.489+1101T>G - IntronicSNV - 4/26 1
7-117172340-A-G c.489+1172A>G - IntronicSNV - 4/26 1
7-117172731-A-G c.489+1563A>G - IntronicSNV - 4/26 2
7-117172783-C-T c.490-1547C>T - IntronicSNV - 4/26 2
7-117173056-C-T c.490-1274C>T - IntronicSNV - 4/26 1
7-117173114-T-C c.490-1216T>C - IntronicSNV - 4/26 2
7-117173230-T-C c.490-1100T>C - IntronicSNV - 4/26 2
7-117173455-T-G c.490-875T>G - IntronicSNV - 4/26 1
7-117173872-G-C c.490-458G>C - IntronicSNV - 4/26 1
7-117174067-T-C c.490-263T>C - IntronicSNV - 4/26 1
7-117174328-A-G c.490-2A>G - IntronicSNV - 4/26 2
7-117174329-G-A c.490-1G>A - IntronicSNV - 4/26 2
7-117174329-G-T c.490-1G>T - IntronicSNV - 4/26 2
7-117174330-A-G c.490A>G p.T164A Missense 5/27 - 4
7-117174331-C-T c.491C>T p.T164I Missense 5/27 - 2
7-117174333-T-C c.493T>C p.L165= Synonymous 5/27 - 1
7-117174333-T-G c.493T>G p.L165V Missense 5/27 - 1
7-117174335-A-G c.495A>G p.L165= Synonymous 5/27 - 2
7-117174334-T-A c.494T>A p.L165* Nonsense 5/27 - 1
7-117174334-T-C c.494T>C p.L165S Missense 5/27 - 9
7-117174335-A-C c.495A>C p.L165F Missense 5/27 - 1
7-117174335-A-T c.495A>T p.L165F Missense 5/27 - 2
7-117174336-A-C c.496A>C p.K166Q Missense 5/27 - 1
7-117174336-A-G c.496A>G p.K166E Missense 5/27 - 3
7-117174338-G-A c.498G>A p.K166= Synonymous 5/27 - 1
7-117174338-G-C c.498G>C p.K166N Missense 5/27 - 1
7-117174338-G-T c.498G>T p.K166N Missense 5/27 - 1
7-117174340-T-C c.500T>C p.L167P Missense 5/27 - 2
7-117174340-T-G c.500T>G p.L167R Missense 5/27 - 1
7-117174340-TG-AT c.500_501delinsAT p.L167H Missense 5/27 - 1
7-117174339-C-T c.499C>T p.L167= Synonymous 5/27 - 1
7-117174341-G-A c.501G>A p.L167= Synonymous 5/27 - 1
7-117174341-G-C c.501G>C p.L167= Synonymous 5/27 - 1
7-117174341-G-T c.501G>T p.L167= Synonymous 5/27 - 1
7-117174342-TC-AG c.502_503delinsAG p.S168R Missense 5/27 - 3
7-117174343-C-A c.503C>A p.S168* Nonsense 5/27 - 1
7-117174343-C-G c.503C>G p.S168* Nonsense 5/27 - 1
7-117174343-C-T c.503C>T p.S168L Missense 5/27 - 3
7-117174345-A-G c.505A>G p.S169G Missense 5/27 - 1
7-117174345-A-T c.505A>T p.S169C Missense 5/27 - 1
7-117174345-A-AG c.506dup p.S169Rfs*6 Frameshift 5/27 - 2
7-117174348-C-A c.508C>A p.R170S Missense 5/27 - 1
7-117174348-C-G c.508C>G p.R170G Missense 5/27 - 7
7-117174348-CGT-TGG c.508_510delinsTGG p.R170W Missense 5/27 - 1
7-117174348-C-T c.508C>T p.R170C Missense 5/27 - 8
7-117174349-G-A c.509G>A p.R170H Missense 5/27 - 37
7-117174349-G-T c.509G>T p.R170L Missense 5/27 - 1
7-117174349-GT-AA c.509_510delinsAA p.R170Q Missense 5/27 - 1
7-117174350-T-A c.510T>A p.R170= Synonymous 5/27 - 1
7-117174351-G-A c.511G>A p.V171I Missense 5/27 - 1
7-117174351-G-T c.511G>T p.V171F Missense 5/27 - 2
7-117174351-GT-TG c.511_512delinsTG p.V171C Missense 5/27 - 1
7-117174351-GTT-TAA c.511_513delinsTAA p.V171* Nonsense 5/27 - 1
7-117174354-C-A c.514C>A p.L172I Missense 5/27 - 2
7-117174354-CTA-TAT c.514_516delinsTAT p.L172Y Missense 5/27 - 1
7-117174354-CTA-TGT c.514_516delinsTGT p.L172C Missense 5/27 - 1
7-117174354-CT-GA c.514_515delinsGA p.L172E Missense 5/27 - 1
7-117174355-T-C c.515T>C p.L172P Missense 5/27 - 1
7-117174356-A-G c.516A>G p.L172= Synonymous 5/27 - 1
7-117174357-G-A c.517G>A p.D173N Missense 5/27 - 3
7-117174357-GA-CG c.517_518delinsCG p.D173R Missense 5/27 - 2
7-117174357-G-C c.517G>C p.D173H Missense 5/27 - 1
7-117174359-T-C c.519T>C p.D173= Synonymous 5/27 - 1
7-117174360-AA-GC c.520_521delinsGC p.K174A Missense 5/27 - 1
7-117174361-A-T c.521A>T p.K174I Missense 5/27 - 1
7-117174362-A-T c.522A>T p.K174N Missense 5/27 - 1
7-117174360-AAAATAAGTATTGGACAACTTGTTAGTCTCCTTTCCAACAACCTGAACAAATTTGATG-A c.523_579del p.I175_E193del InFrameDeletion 5/27 - 1
7-117174363-A-G c.523A>G p.I175V Missense 5/27 - 5
7-117174364-T-C c.524T>C p.I175T Missense 5/27 - 1
7-117174366-A-C c.526A>C p.S176R Missense 5/27 - 4
7-117174366-A-G c.526A>G p.S176G Missense 5/27 - 2
7-117174366-A-T c.526A>T p.S176C Missense 5/27 - 1
7-117174367-G-A c.527G>A p.S176N Missense 5/27 - 2
7-117174367-G-C c.527G>C p.S176T Missense 5/27 - 2
7-117174367-G-T c.527G>T p.S176I Missense 5/27 - 1
7-117174368-T-A c.528T>A p.S176R Missense 5/27 - 1
7-117174368-T-G c.528T>G p.S176R Missense 5/27 - 1
7-117174369-A-G c.529A>G p.I177V Missense 5/27 - 1
7-117174369-A-T c.529A>T p.I177F Missense 5/27 - 1
7-117174369-AT-TG c.529_530delinsTG p.I177C Missense 5/27 - 1
7-117174370-T-C c.530T>C p.I177T Missense 5/27 - 1
7-117174369-A-AT c.531dup p.G178Wfs*5 Frameshift 5/27 - 3
7-117174369-AT-A c.531del p.I177Mfs*12 Frameshift 5/27 - 8
7-117174371-T-G c.531T>G p.I177M Missense 5/27 - 1
7-117174372-G-A c.532G>A p.G178R Missense 5/27 - 149
7-117174372-G-C c.532G>C p.G178R Missense 5/27 - 84
7-117174372-GGA-TGT c.532_534delinsTGT p.G178C Missense 5/27 - 1
7-117174372-G-T c.532G>T p.G178* Nonsense 5/27 - 1
7-117174373-G-A c.533G>A p.G178E Missense 5/27 - 13
7-117174375-C-A c.535C>A p.Q179K Missense 5/27 - 9
7-117174375-CA-GC c.535_536delinsGC p.Q179A Missense 5/27 - 1
7-117174375-C-T c.535C>T p.Q179* Nonsense 5/27 - 5
7-117174377-A-C c.537A>C p.Q179H Missense 5/27 - 1
7-117174377-A-G c.537A>G p.Q179= Synonymous 5/27 - 1
7-117174377-A-T c.537A>T p.Q179H Missense 5/27 - 1
7-117174378-C-G c.538C>G p.L180V Missense 5/27 - 4
7-117174378-CTT-GAG c.538_540delinsGAG p.L180E Missense 5/27 - 1
7-117174381-GT-TG c.541_542delinsTG p.V181C Missense 5/27 - 1
7-117174380-TGTTA-T c.543_546del p.L183Ffs*5 Frameshift 5/27 - 1
7-117174383-T-TA c.544dup p.S182Kfs*11 Frameshift 5/27 - 1
7-117174384-A-G c.544A>G p.S182G Missense 5/27 - 4
7-117174384-AG-GC c.544_545delinsGC p.S182A Missense 5/27 - 1
7-117174384-A-T c.544A>T p.S182C Missense 5/27 - 1
7-117174387-C-A c.547C>A p.L183I Missense 5/27 - 6
7-117174387-C-T c.547C>T p.L183F Missense 5/27 - 3
7-117174388-T-C c.548T>C p.L183P Missense 5/27 - 2
7-117174388-TC-AA c.548_549delinsAA p.L183Q Missense 5/27 - 1
7-117174389-C-A c.549C>A p.L183= Synonymous 5/27 - 1
7-117174389-CC-TT c.549_550delinsTT p.L184F Missense 5/27 - 1
7-117174389-C-G c.549C>G p.L183= Synonymous 5/27 - 1
7-117174389-C-T c.549C>T p.L183= Synonymous 5/27 - 5
7-117174390-C-T c.550C>T p.L184F Missense 5/27 - 4
7-117174390-CT-TG c.550_551delinsTG p.L184C Missense 5/27 - 1
7-117174393-T-G c.553T>G p.S185A Missense 5/27 - 1
7-117174394-C-G c.554C>G p.S185C Missense 5/27 - 1
7-117174394-C-T c.554C>T p.S185F Missense 5/27 - 1
7-117174396-AA-TG c.556_557delinsTG p.N186C Missense 5/27 - 1
7-117174397-A-G c.557A>G p.N186S Missense 5/27 - 3
7-117174398-C-A c.558C>A p.N186K Missense 5/27 - 2
7-117174398-C-G c.558C>G p.N186K Missense 5/27 - 10
7-117174398-C-T c.558C>T p.N186= Synonymous 5/27 - 1
7-117174399-AA-TG c.559_560delinsTG p.N187C Missense 5/27 - 1
7-117174399-A-G c.559A>G p.N187D Missense 5/27 - 1
7-117174398-CA-C c.560del p.N187Tfs*2 Frameshift 5/27 - 1
7-117174402-CTG-TGT c.562_564delinsTGT p.L188C Missense 5/27 - 1
7-117174402-CT-TG c.562_563delinsTG p.L188W Missense 5/27 - 1
7-117174403-T-A c.563T>A p.L188Q Missense 5/27 - 1
7-117174403-T-C c.563T>C p.L188P Missense 5/27 - 3
7-117174402-C-T c.562C>T p.L188= Synonymous 5/27 - 1
7-117174404-G-A c.564G>A p.L188= Synonymous 5/27 - 1
7-117174404-G-C c.564G>C p.L188= Synonymous 5/27 - 1
7-117174404-G-T c.564G>T p.L188= Synonymous 5/27 - 2
7-117174405-AA-TG c.565_566delinsTG p.N189C Missense 5/27 - 1
7-117174406-A-G c.566A>G p.N189S Missense 5/27 - 1
7-117174407-C-A c.567C>A p.N189K Missense 5/27 - 6
7-117174407-C-G c.567C>G p.N189K Missense 5/27 - 1
7-117174408-AAA-TGT c.568_570delinsTGT p.K190C Missense 5/27 - 7
7-117174408-AA-GC c.568_569delinsGC p.K190A Missense 5/27 - 1
7-117174408-A-C c.568A>C p.K190Q Missense 5/27 - 1
7-117174408-A-G c.568A>G p.K190E Missense 5/27 - 1
7-117174409-A-G c.569A>G p.K190R Missense 5/27 - 1
7-117174411-T-C c.571T>C p.F191L Missense 5/27 - 1
7-117174411-T-G c.571T>G p.F191V Missense 5/27 - 5
7-117174411-TT-GC c.571_572delinsGC p.F191A Missense 5/27 - 1
7-117174413-T-A c.573T>A p.F191L Missense 5/27 - 1
7-117174413-T-G c.573T>G p.F191L Missense 5/27 - 1
7-117174412-T-G c.572T>G p.F191C Missense 5/27 - 1
7-117174414-GA-AG c.574_575delinsAG p.D192S Missense 5/27 - 1
7-117174414-GA-TG c.574_575delinsTG p.D192C Missense 5/27 - 1
7-117174415-A-G c.575A>G p.D192G Missense 5/27 - 11
7-117174415-A-T c.575A>T p.D192V Missense 5/27 - 2
7-117174417-G-A c.577G>A p.E193K Missense 5/27 - 48
7-117174417-GAA-TGT c.577_579delinsTGT p.E193C Missense 5/27 - 1
7-117174417-G-T c.577G>T p.E193* Nonsense 5/27 - 12
7-117174418-A-G c.578A>G p.E193G Missense 5/27 - 2
7-117174420-G-A c.579+1G>A - IntronicSNV - 5/26 2
7-117174420-G-T c.579+1G>T - IntronicSNV - 5/26 34
7-117174422-A-C c.579+3A>C - IntronicSNV - 5/26 3
7-117174422-A-G c.579+3A>G - IntronicSNV - 5/26 17
7-117174422-A-T c.579+3A>T - IntronicSNV - 5/26 2
7-117174423-T-C c.579+4T>C - IntronicSNV - 5/26 1
7-117174422-ATG-A c.579+5_579+6del - IntronicDeletion - 5/26 1
7-117174424-G-A c.579+5G>A - IntronicSNV - 5/26 12
7-117174532-C-T c.579+113C>T - IntronicSNV - 5/26 1
7-117174804-T-A c.579+385T>A - IntronicSNV - 5/26 1
7-117175100-G-C c.580-202G>C - IntronicSNV - 5/26 1
7-117175143-G-A c.580-159G>A - IntronicSNV - 5/26 1
7-117175300-A-C c.580-2A>C - IntronicSNV - 5/26 2
7-117175300-A-G c.580-2A>G - IntronicSNV - 5/26 2
7-117175301-G-A c.580-1G>A - IntronicSNV - 5/26 11
7-117175301-G-T c.580-1G>T - IntronicSNV - 5/26 11
7-117175302-G-A c.580G>A p.G194R Missense 6/27 - 6
7-117175302-G-C c.580G>C p.G194R Missense 6/27 - 3
7-117175302-G-T c.580G>T p.G194* Nonsense 6/27 - 3
7-117175303-G-A c.581G>A p.G194E Missense 6/27 - 3
7-117175303-GA-AC c.581_582delinsAC p.G194D Missense 6/27 - 1
7-117175303-G-T c.581G>T p.G194V Missense 6/27 - 5
7-117175304-A-G c.582A>G p.G194= Synonymous 6/27 - 1
7-117175304-A-T c.582A>T p.G194= Synonymous 6/27 - 1
7-117175305-CT-TG c.583_584delinsTG p.L195C Missense 6/27 - 1
7-117175306-T-A c.584T>A p.L195H Missense 6/27 - 1
7-117175307-T-A c.585T>A p.L195= Synonymous 6/27 - 1
7-117175307-T-C c.585T>C p.L195= Synonymous 6/27 - 1
7-117175307-T-G c.585T>G p.L195= Synonymous 6/27 - 1
7-117175308-G-A c.586G>A p.A196T Missense 6/27 - 1
7-117175308-GCA-TGT c.586_588delinsTGT p.A196C Missense 6/27 - 1
7-117175309-C-T c.587C>T p.A196V Missense 6/27 - 1
7-117175310-A-C c.588A>C p.A196= Synonymous 6/27 - 1
7-117175310-A-G c.588A>G p.A196= Synonymous 6/27 - 1
7-117175311-T-C c.589T>C p.L197= Synonymous 6/27 - 3
7-117175312-TG-GT c.590_591delinsGT p.L197C Missense 6/27 - 1
7-117175313-G-A c.591G>A p.L197= Synonymous 6/27 - 2
7-117175314-G-A c.592G>A p.A198T Missense 6/27 - 4
7-117175314-G-C c.592G>C p.A198P Missense 6/27 - 8
7-117175314-G-T c.592G>T p.A198S Missense 6/27 - 1
7-117175315-C-T c.593C>T p.A198V Missense 6/27 - 3
7-117175316-A-C c.594A>C p.A198= Synonymous 6/27 - 1
7-117175316-A-G c.594A>G p.A198= Synonymous 6/27 - 1
7-117175317-CA-GC c.595_596delinsGC p.H199A Missense 6/27 - 1
7-117175317-CA-TG c.595_596inv p.H199C Missense 6/27 - 1
7-117175317-CAT-TGG c.595_597delinsTGG p.H199W Missense 6/27 - 1
7-117175317-C-T c.595C>T p.H199Y Missense 6/27 - 34
7-117175318-A-G c.596A>G p.H199R Missense 6/27 - 12
7-117175319-T-A c.597T>A p.H199Q Missense 6/27 - 2
7-117175319-T-G c.597T>G p.H199Q Missense 6/27 - 2
7-117175318-ATTTCGTGTGGATCGC-A c.598_612del p.F200_A204del InFrameDeletion 6/27 - 1
7-117175320-T-A c.598T>A p.F200I Missense 6/27 - 1
7-117175320-T-C c.598T>C p.F200L Missense 6/27 - 1
7-117175321-T-A c.599T>A p.F200Y Missense 6/27 - 1
7-117175322-C-A c.600C>A p.F200L Missense 6/27 - 1
7-117175322-C-T c.600C>T p.F200= Synonymous 6/27 - 11
7-117175323-G-A c.601G>A p.V201M Missense 6/27 - 38
7-117175323-GTG-ATC c.601_603delinsATC p.V201I Missense 6/27 - 1
7-117175327-G-A c.605G>A p.W202* Nonsense 6/27 - 2
7-117175327-G-C c.605G>C p.W202S Missense 6/27 - 1
7-117175328-G-A c.606G>A p.W202* Nonsense 6/27 - 2
7-117175328-G-C c.606G>C p.W202C Missense 6/27 - 2
7-117175328-G-T c.606G>T p.W202C Missense 6/27 - 2
7-117175329-A-T c.607A>T p.I203F Missense 6/27 - 3
7-117175329-AT-TG c.607_608delinsTG p.I203C Missense 6/27 - 1
7-117175331-C-G c.609C>G p.I203M Missense 6/27 - 3
7-117175331-C-T c.609C>T p.I203= Synonymous 6/27 - 8
7-117175332-G-A c.610G>A p.A204T Missense 6/27 - 5
7-117175332-GC-CT c.610_611delinsCT p.A204L Missense 6/27 - 1
7-117175332-GC-TG c.610_611delinsTG p.A204C Missense 6/27 - 1
7-117175332-G-T c.610G>T p.A204S Missense 6/27 - 3
7-117175334-T-C c.612T>C p.A204= Synonymous 6/27 - 1
7-117175334-T-G c.612T>G p.A204= Synonymous 6/27 - 2
7-117175335-C-A c.613C>A p.P205T Missense 6/27 - 4
7-117175335-C-G c.613C>G p.P205A Missense 6/27 - 1
7-117175335-C-T c.613C>T p.P205S Missense 6/27 - 54
7-117175336-C-G c.614C>G p.P205R Missense 6/27 - 3
7-117175336-C-T c.614C>T p.P205L Missense 6/27 - 4
7-117175337-T-A c.615T>A p.P205= Synonymous 6/27 - 1
7-117175338-T-A c.616T>A p.L206M Missense 6/27 - 1
7-117175338-T-G c.616T>G p.L206V Missense 6/27 - 1
7-117175338-TT-CC c.616_617delinsCC p.L206P Missense 6/27 - 1
7-117175339-T-G c.617T>G p.L206W Missense 6/27 - 107
7-117175341-C-A c.619C>A p.Q207K Missense 6/27 - 1
7-117175341-C-T c.619C>T p.Q207* Nonsense 6/27 - 1
7-117175342-A-G c.620A>G p.Q207R Missense 6/27 - 1
7-117175343-A-C c.621A>C p.Q207H Missense 6/27 - 3
7-117175344-G-T c.622G>T p.V208L Missense 6/27 - 1
7-117175344-GTG-TGT c.622_624delinsTGT p.V208C Missense 6/27 - 1
7-117175345-T-C c.623T>C p.V208A Missense 6/27 - 2
7-117175347-G-T c.625G>T p.A209S Missense 6/27 - 1
7-117175348-C-T c.626C>T p.A209V Missense 6/27 - 1
7-117175349-A-G c.627A>G p.A209= Synonymous 6/27 - 2
7-117175350-C-T c.628C>T p.L210F Missense 6/27 - 3
7-117175350-CT-TG c.628_629delinsTG p.L210C Missense 6/27 - 1
7-117175351-T-C c.629T>C p.L210P Missense 6/27 - 1
7-117175352-C-A c.630C>A p.L210= Synonymous 6/27 - 1
7-117175352-C-G c.630C>G p.L210= Synonymous 6/27 - 1
7-117175352-C-T c.630C>T p.L210= Synonymous 6/27 - 4
7-117175353-CT-GC c.631_632delinsGC p.L211A Missense 6/27 - 1
7-117175355-C-A c.633C>A p.L211= Synonymous 6/27 - 1
7-117175355-C-G c.633C>G p.L211= Synonymous 6/27 - 1
7-117175355-C-T c.633C>T p.L211= Synonymous 6/27 - 5
7-117175356-A-G c.634A>G p.M212V Missense 6/27 - 2
7-117175356-ATG-TGT c.634_636delinsTGT p.M212C Missense 6/27 - 1
7-117175359-G-A c.637G>A p.G213R Missense 6/27 - 1
7-117175360-G-A c.638G>A p.G213E Missense 6/27 - 1
7-117175360-GG-AC c.638_639delinsAC p.G213D Missense 6/27 - 1
7-117175361-G-A c.639G>A p.G213= Synonymous 6/27 - 1
7-117175362-C-G c.640C>G p.L214V Missense 6/27 - 4
7-117175362-C-T c.640C>T p.L214= Synonymous 6/27 - 2
7-117175362-CTA-TGT c.640_642delinsTGT p.L214C Missense 6/27 - 1
7-117175364-A-AT c.642_643insT p.I215Yfs*43 Frameshift 6/27 - 1
7-117175364-A-G c.642A>G p.L214= Synonymous 6/27 - 1
7-117175365-A-C c.643A>C p.I215L Missense 6/27 - 1
7-117175365-A-T c.643A>T p.I215F Missense 6/27 - 1
7-117175365-AT-GC c.643_644delinsGC p.I215A Missense 6/27 - 1
7-117175366-T-TC c.645dup p.W216Lfs*42 Frameshift 6/27 - 1
7-117175368-T-A c.646T>A p.W216R Missense 6/27 - 1
7-117175368-T-C c.646T>C p.W216R Missense 6/27 - 2
7-117175368-T-TGC c.647_648insCG p.W216Cfs*16 Frameshift 6/27 - 1
7-117175369-G-A c.647G>A p.W216* Nonsense 6/27 - 6
7-117175370-G-A c.648G>A p.W216* Nonsense 6/27 - 7
7-117175370-G-C c.648G>C p.W216C Missense 6/27 - 1
7-117175370-G-T c.648G>T p.W216C Missense 6/27 - 4
7-117175371-G-A c.649G>A p.E217K Missense 6/27 - 1
7-117175371-GAG-TGT c.649_651delinsTGT p.E217C Missense 6/27 - 2
7-117175371-GAG-TTT c.649_651delinsTTT p.E217F Missense 6/27 - 1
7-117175371-GA-TC c.649_650inv p.E217S Missense 6/27 - 1
7-117175372-A-C c.650A>C p.E217A Missense 6/27 - 1
7-117175372-A-G c.650A>G p.E217G Missense 6/27 - 44
7-117175372-A-T c.650A>T p.E217V Missense 6/27 - 1
7-117175372-GAGTTGTTACA-G c.650_659del p.E217Gfs*11 Frameshift 6/27 - 1
7-117175373-G-A c.651G>A p.E217= Synonymous 6/27 - 1
7-117175373-G-T c.651G>T p.E217D Missense 6/27 - 1
7-117175374-T-A c.652T>A p.L218M Missense 6/27 - 1
7-117175375-T-A c.653T>A p.L218* Nonsense 6/27 - 10
7-117175375-T-C c.653T>C p.L218S Missense 6/27 - 1
7-117175375-TG-GT c.653_654delinsGT p.L218C Missense 6/27 - 1
7-117175378-T-TA c.657dup p.Q220Tfs*38 Frameshift 6/27 - 2
7-117175380-CA-TG c.658_659inv p.Q220W Missense 6/27 - 2
7-117175380-C-T c.658C>T p.Q220* Nonsense 6/27 - 32
7-117175381-A-C c.659A>C p.Q220P Missense 6/27 - 1
7-117175381-A-G c.659A>G p.Q220R Missense 6/27 - 4
7-117175382-G-A c.660G>A p.Q220= Synonymous 6/27 - 1
7-117175384-C-T c.662C>T p.A221V Missense 6/27 - 3
7-117175385-G-A c.663G>A p.A221= Synonymous 6/27 - 3
7-117175385-G-C c.663G>C p.A221= Synonymous 6/27 - 1
7-117175385-G-T c.663G>T p.A221= Synonymous 6/27 - 1
7-117175387-C-T c.665C>T p.S222F Missense 6/27 - 1
7-117175388-T-C c.666T>C p.S222= Synonymous 6/27 - 1
7-117175391-C-A c.669C>A p.A223= Synonymous 6/27 - 1
7-117175391-C-T c.669C>T p.A223= Synonymous 6/27 - 1
7-117175392-T-A c.670T>A p.F224I Missense 6/27 - 2
7-117175394-C-G c.672C>G p.F224L Missense 6/27 - 2
7-117175395-T-A c.673T>A p.C225S Missense 6/27 - 3
7-117175395-T-C c.673T>C p.C225R Missense 6/27 - 2
7-117175396-G-C c.674G>C p.C225S Missense 6/27 - 3
7-117175396-G-A c.674G>A p.C225Y Missense 6/27 - 2
7-117175397-T-A c.675T>A p.C225* Nonsense 6/27 - 6
7-117175399-G-A c.677G>A p.G226E Missense 6/27 - 2
7-117175399-G-T c.677G>T p.G226V Missense 6/27 - 2
7-117175402-T-G c.680T>G p.L227R Missense 6/27 - 16
7-117175404-G-A c.682G>A p.G228S Missense 6/27 - 1
7-117175404-G-C c.682G>C p.G228R Missense 6/27 - 1
7-117175404-GG-CT c.682_683delinsCT p.G228L Missense 6/27 - 2
7-117175405-G-A c.683G>A p.G228D Missense 6/27 - 1
7-117175406-T-A c.684T>A p.G228= Synonymous 6/27 - 1
7-117175406-T-C c.684T>C p.G228= Synonymous 6/27 - 2
7-117175406-T-G c.684T>G p.G228= Synonymous 6/27 - 1
7-117175407-T-C c.685T>C p.F229L Missense 6/27 - 1
7-117175407-TT-GC c.685_686delinsGC p.F229A Missense 6/27 - 1
7-117175409-C-A c.687C>A p.F229L Missense 6/27 - 1
7-117175409-C-G c.687C>G p.F229L Missense 6/27 - 1
7-117175408-T-A c.686T>A p.F229Y Missense 6/27 - 2
7-117175408-T-C c.686T>C p.F229S Missense 6/27 - 1
7-117175409-C-T c.687C>T p.F229= Synonymous 6/27 - 4
7-117175410-C-T c.688C>T p.L230= Synonymous 6/27 - 1
7-117175412-G-A c.690G>A p.L230= Synonymous 6/27 - 4
7-117175412-G-C c.690G>C p.L230= Synonymous 6/27 - 1
7-117175412-G-T c.690G>T p.L230= Synonymous 6/27 - 1
7-117175414-T-A c.692T>A p.I231K Missense 6/27 - 1
7-117175416-GTC-AAG c.694_696delinsAAG p.V232K Missense 6/27 - 2
7-117175417-T-A c.695T>A p.V232D Missense 6/27 - 45
7-117175417-T-C c.695T>C p.V232A Missense 6/27 - 1
7-117175418-C-A c.696C>A p.V232= Synonymous 6/27 - 2
7-117175418-C-G c.696C>G p.V232= Synonymous 6/27 - 2
7-117175418-C-T c.696C>T p.V232= Synonymous 6/27 - 2
7-117175419-C-G c.697C>G p.L233V Missense 6/27 - 2
7-117175419-C-T c.697C>T p.L233F Missense 6/27 - 3
7-117175420-T-C c.698T>C p.L233P Missense 6/27 - 1
7-117175422-G-A c.700G>A p.A234T Missense 6/27 - 1
7-117175422-G-T c.700G>T p.A234S Missense 6/27 - 1
7-117175422-TG-T c.700del p.A234Pfs*7 Frameshift 6/27 - 1
7-117175423-C-A c.701C>A p.A234D Missense 6/27 - 3
7-117175423-C-T c.701C>T p.A234V Missense 6/27 - 2
7-117175424-C-A c.702C>A p.A234= Synonymous 6/27 - 1
7-117175424-C-G c.702C>G p.A234= Synonymous 6/27 - 1
7-117175424-C-T c.702C>T p.A234= Synonymous 6/27 - 4
7-117175423-C-CCCAG c.703_704insAGCC p.L235Qfs*24 Frameshift 6/27 - 1
7-117175425-C-T c.703C>T p.L235F Missense 6/27 - 2
7-117175426-T-C c.704T>C p.L235P Missense 6/27 - 4
7-117175426-T-G c.704T>G p.L235R Missense 6/27 - 4
7-117175426-T-TGAAAAAGGGCAAGGA c.704_705insGAAAAAGGGCAAGGA p.L235_F236insKKGKD InFrameInsertion 6/27 - 1
7-117175427-T-C c.705T>C p.L235= Synonymous 6/27 - 1
7-117175427-T-G c.705T>G p.L235= Synonymous 6/27 - 1
7-117175428-TT-GC c.706_707delinsGC p.F236A Missense 6/27 - 1
7-117175429-T-C c.707T>C p.F236S Missense 6/27 - 2
7-117175429-T-G c.707T>G p.F236C Missense 6/27 - 1
7-117175431-CA-GC c.709_710delinsGC p.Q237A Missense 6/27 - 1
7-117175431-CAG-TGT c.709_711delinsTGT p.Q237C Missense 6/27 - 1
7-117175431-C-G c.709C>G p.Q237E Missense 6/27 - 7
7-117175431-C-T c.709C>T p.Q237* Nonsense 6/27 - 11
7-117175433-G-A c.711G>A p.Q237= Synonymous 6/27 - 1
7-117175433-G-C c.711G>C p.Q237H Missense 6/27 - 3
7-117175433-G-T c.711G>T p.Q237H Missense 6/27 - 2
7-117175434-G-C c.712G>C p.A238P Missense 6/27 - 2
7-117175434-GC-TG c.712_713delinsTG p.A238C Missense 6/27 - 1
7-117175435-C-T c.713C>T p.A238V Missense 6/27 - 6
7-117175437-G-A c.715G>A p.G239R Missense 6/27 - 5
7-117175437-G-C c.715G>C p.G239R Missense 6/27 - 3
7-117175437-GGG-TGT c.715_717delinsTGT p.G239C Missense 6/27 - 1
7-117175438-G-A c.716G>A p.G239E Missense 6/27 - 1
7-117175436-TG-T c.717del p.L240* Frameshift 6/27 - 1
7-117175439-G-C c.717G>C p.G239= Synonymous 6/27 - 1
7-117175439-G-GTAA c.717_718insTAA p.G239_L240ins* InFrameInsertion 6/27 - 1
7-117175440-C-G c.718C>G p.L240V Missense 6/27 - 1
7-117175440-CTA-TGT c.718_720delinsTGT p.L240C Missense 6/27 - 1
7-117175442-A-G c.720A>G p.L240= Synonymous 6/27 - 1
7-117175442-TAGGGAGAATGATGATGAAGTACA-T c.720_742del p.G241Rfs*9 SpliceDonorDeletion 6/27 - 1
7-117175443-G-A c.721G>A p.G241R Missense 6/27 - 5
7-117175443-GGG-AGC c.721_723delinsAGC p.G241S Missense 6/27 - 1
7-117175443-GGG-TGT c.721_723delinsTGT p.G241C Missense 6/27 - 1
7-117175443-G-T c.721G>T p.G241W Missense 6/27 - 6
7-117175444-G-A c.722G>A p.G241E Missense 6/27 - 6
7-117175444-G-C c.722G>C p.G241A Missense 6/27 - 1
7-117175441-TAGGGAGAATGATGATGAAGTAC-T c.723_743+1del - SpliceDonorDeletion 6/27 6/26 1
7-117175446-AGA-TGT c.724_726delinsTGT p.R242C Missense 6/27 - 1
7-117175446-AG-GA c.724_725delinsGA p.R242E Missense 6/27 - 1
7-117175447-G-A c.725G>A p.R242K Missense 6/27 - 6
7-117175449-A-C c.727A>C p.M243L Missense 6/27 - 1
7-117175449-A-G c.727A>G p.M243V Missense 6/27 - 1
7-117175449-A-T c.727A>T p.M243L Missense 6/27 - 1
7-117175449-ATG-TGT c.727_729delinsTGT p.M243C Missense 6/27 - 1
7-117175450-T-C c.728T>C p.M243T Missense 6/27 - 1
7-117175451-G-A c.729G>A p.M243I Missense 6/27 - 7
7-117175451-G-C c.729G>C p.M243I Missense 6/27 - 2
7-117175451-G-T c.729G>T p.M243I Missense 6/27 - 2
7-117175452-A-G c.730A>G p.M244V Missense 6/27 - 2
7-117175452-ATG-TGT c.730_732delinsTGT p.M244C Missense 6/27 - 1
7-117175453-T-A c.731T>A p.M244K Missense 6/27 - 1
7-117175454-G-C c.732G>C p.M244I Missense 6/27 - 2
7-117175455-ATG-TGT c.733_735delinsTGT p.M245C Missense 6/27 - 1
7-117175457-G-A c.735G>A p.M245I Missense 6/27 - 4
7-117175458-AAG-TGT c.736_738delinsTGT p.K246C Missense 6/27 - 1
7-117175459-A-C c.737A>C p.K246T Missense 6/27 - 1
7-117175460-G-A c.738G>A p.K246= Synonymous 6/27 - 6
7-117175461-T-A c.739T>A p.Y247N Missense 6/27 - 2
7-117175462-A-G c.740A>G p.Y247C Missense 6/27 - 1
7-117175462-A-T c.740A>T p.Y247F Missense 6/27 - 1
7-117175463-C-G c.741C>G p.Y247* Nonsense 6/27 - 1
7-117175463-C-T c.741C>T p.Y247= Synonymous 6/27 - 1
7-117175464-A-G c.742A>G p.R248G Missense 6/27 - 2
7-117175464-AG-CA c.742_743delinsCA p.R248Q Missense 6/27 - 3
7-117175464-A-T c.742A>T p.R248* Nonsense 6/27 - 2
7-117175465-G-A c.743G>A p.R248K Missense 6/27 - 1
7-117175465-G-C c.743G>C p.R248T Missense 6/27 - 4
7-117175466-G-A c.743+1G>A - IntronicSNV - 6/26 3
7-117175466-G-C c.743+1G>C - IntronicSNV - 6/26 2
7-117175467-T-C c.743+2T>C - IntronicSNV - 6/26 1
7-117175473-C-T c.743+8C>T - IntronicSNV - 6/26 1
7-117175505-A-G c.743+40A>G - IntronicSNV - 6/26 7
7-117175579-ATT-A c.743+135_743+136del - IntronicDeletion - 6/26 1
7-117175579-AT-A c.743+136del - IntronicDeletion - 6/26 2
7-117175713-G-A c.743+248G>A - IntronicSNV - 6/26 1
7-117175791-T-A c.743+326T>A - IntronicSNV - 6/26 2
7-117176106-A-G c.744-496A>G - IntronicSNV - 6/26 2
7-117176248-A-G c.744-354A>G - IntronicSNV - 6/26 2
7-117176587-T-C c.744-15T>C - IntronicSNV - 6/26 1
7-117176602-GA-G c.744del p.D249Ifs*12 Frameshift 7/27 - 1
7-117176602-GAGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTGATTACCTCAGAAATGATTGAAA-G c.745_803del p.D249Yfs*5 SpliceAcceptorDeletion 7/27 - 2
7-117176599-CAG-C c.745_746del p.D249Sfs*8 SpliceAcceptorDeletion 7/27 - 1
7-117176603-G-C c.745G>C p.D249H Missense 7/27 - 1
7-117176603-G-T c.745G>T p.D249Y Missense 7/27 - 1
7-117176604-A-C c.746A>C p.D249A Missense 7/27 - 1
7-117176606-C-A c.748C>A p.Q250K Missense 7/27 - 1
7-117176606-CAG-TGT c.748_750delinsTGT p.Q250C Missense 7/27 - 1
7-117176607-A-G c.749A>G p.Q250R Missense 7/27 - 1
7-117176608-G-A c.750G>A p.Q250= Synonymous 7/27 - 1
7-117176609-A-G c.751A>G p.R251G Missense 7/27 - 1
7-117176609-AGA-TGG c.751_753delinsTGG p.R251W Missense 7/27 - 1
7-117176609-AGA-TGT c.751_753delinsTGT p.R251C Missense 7/27 - 3
7-117176606-CAG-C c.753_754del p.R251Sfs*6 Frameshift 7/27 - 3
7-117176612-G-A c.754G>A p.A252T Missense 7/27 - 3
7-117176612-G-C c.754G>C p.A252P Missense 7/27 - 1
7-117176612-G-T c.754G>T p.A252S Missense 7/27 - 1
7-117176613-C-T c.755C>T p.A252V Missense 7/27 - 2
7-117176615-G-A c.757G>A p.G253R Missense 7/27 - 4
7-117176615-G-C c.757G>C p.G253R Missense 7/27 - 1
7-117176616-G-T c.758G>T p.G253V Missense 7/27 - 1
7-117176617-G-T c.759G>T p.G253= Synonymous 7/27 - 1
7-117176618-AAG-TGT c.760_762delinsTGT p.K254C Missense 7/27 - 2
7-117176618-A-G c.760A>G p.K254E Missense 7/27 - 1
7-117176617-GA-G c.761del p.K254Rfs*7 Frameshift 7/27 - 1
7-117176619-A-G c.761A>G p.K254R Missense 7/27 - 1
7-117176621-A-G c.763A>G p.I255V Missense 7/27 - 2
7-117176621-A-T c.763A>T p.I255F Missense 7/27 - 1
7-117176621-AT-TG c.763_764delinsTG p.I255C Missense 7/27 - 1
7-117176622-AT-A c.764del p.I255Tfs*6 Frameshift 7/27 - 1
7-117176622-T-A c.764T>A p.I255N Missense 7/27 - 3
7-117176623-C-T c.765C>T p.I255= Synonymous 7/27 - 3
7-117176624-A-G c.766A>G p.S256G Missense 7/27 - 2
7-117176624-A-T c.766A>T p.S256C Missense 7/27 - 1
7-117176625-G-A c.767G>A p.S256N Missense 7/27 - 2
7-117176626-T-C c.768T>C p.S256= Synonymous 7/27 - 1
7-117176627-G-A c.769G>A p.E257K Missense 7/27 - 1
7-117176627-GAA-TGT c.769_771delinsTGT p.E257C Missense 7/27 - 1
7-117176627-G-T c.769G>T p.E257* Nonsense 7/27 - 1
7-117176628-A-C c.770A>C p.E257A Missense 7/27 - 1
7-117176630-A-G c.772A>G p.R258G Missense 7/27 - 22
7-117176630-AGA-TGT c.772_774delinsTGT p.R258C Missense 7/27 - 1
7-117176630-AG-CA c.772_773delinsCA p.R258Q Missense 7/27 - 1
7-117176631-G-A c.773G>A p.R258K Missense 7/27 - 1
7-117176631-G-T c.773G>T p.R258I Missense 7/27 - 4
7-117176632-A-T c.774A>T p.R258S Missense 7/27 - 1
7-117176633-C-G c.775C>G p.L259V Missense 7/27 - 1
7-117176633-C-T c.775C>T p.L259F Missense 7/27 - 1
7-117176633-CT-TG c.775_776delinsTG p.L259C Missense 7/27 - 1
7-117176635-T-A c.777T>A p.L259= Synonymous 7/27 - 2
7-117176635-T-C c.777T>C p.L259= Synonymous 7/27 - 2
7-117176635-T-G c.777T>G p.L259= Synonymous 7/27 - 2
7-117176636-G-A c.778G>A p.V260M Missense 7/27 - 1
7-117176636-GT-AG c.778_779delinsAG p.V260R Missense 7/27 - 1
7-117176636-GT-CC c.778_779delinsCC p.V260P Missense 7/27 - 1
7-117176636-GTG-ATC c.778_780delinsATC p.V260I Missense 7/27 - 2
7-117176636-GTG-TGT c.778_780delinsTGT p.V260C Missense 7/27 - 1
7-117176637-T-C c.779T>C p.V260A Missense 7/27 - 3
7-117176637-T-G c.779T>G p.V260G Missense 7/27 - 1
7-117176637-TG-AC c.779_780delinsAC p.V260D Missense 7/27 - 1
7-117176639-AT-TG c.781_782delinsTG p.I261C Missense 7/27 - 1
7-117176642-AC-TG c.784_785delinsTG p.T262C Missense 7/27 - 1
7-117176643-C-T c.785C>T p.T262I Missense 7/27 - 2
7-117176644-C-T c.786C>T p.T262= Synonymous 7/27 - 2
7-117176645-T-G c.787T>G p.S263A Missense 7/27 - 1
7-117176646-CA-GT c.788_789delinsGT p.S263C Missense 7/27 - 1
7-117176646-CA-TT c.788_789delinsTT p.S263F Missense 7/27 - 1
7-117176646-C-T c.788C>T p.S263L Missense 7/27 - 2
7-117176648-G-A c.790G>A p.E264K Missense 7/27 - 1
7-117176648-GAA-TGT c.790_792delinsTGT p.E264C Missense 7/27 - 1
7-117176649-A-T c.791A>T p.E264V Missense 7/27 - 9
7-117176651-A-G c.793A>G p.M265V Missense 7/27 - 3
7-117176651-ATG-TGT c.793_795delinsTGT p.M265C Missense 7/27 - 1
7-117176652-T-C c.794T>C p.M265T Missense 7/27 - 1
7-117176652-T-G c.794T>G p.M265R Missense 7/27 - 5
7-117176653-G-A c.795G>A p.M265I Missense 7/27 - 1
7-117176653-G-C c.795G>C p.M265I Missense 7/27 - 1
7-117176653-G-T c.795G>T p.M265I Missense 7/27 - 1
7-117176654-A-G c.796A>G p.I266V Missense 7/27 - 2
7-117176654-AT-TG c.796_797delinsTG p.I266C Missense 7/27 - 1
7-117176657-G-A c.799G>A p.E267K Missense 7/27 - 5
7-117176657-GA-AG c.799_800delinsAG p.E267R Missense 7/27 - 2
7-117176657-GAA-TGT c.799_801delinsTGT p.E267C Missense 7/27 - 1
7-117176657-G-T c.799G>T p.E267* Nonsense 7/27 - 1
7-117176658-A-C c.800A>C p.E267A Missense 7/27 - 2
7-117176658-A-G c.800A>G p.E267G Missense 7/27 - 1
7-117176659-A-G c.801A>G p.E267= Synonymous 7/27 - 1
7-117176660-AA-TG c.802_803delinsTG p.N268C Missense 7/27 - 2
7-117176657-GA-G c.803del p.N268Ifs*17 Frameshift 7/27 - 7
7-117176662-T-C c.804T>C p.N268= Synonymous 7/27 - 1
7-117176660-AAT-A c.805_806del p.I269Pfs*4 Frameshift 7/27 - 2
7-117176663-AT-TG c.805_806delinsTG p.I269C Missense 7/27 - 1
7-117176664-T-C c.806T>C p.I269T Missense 7/27 - 6
7-117176665-C-A c.807C>A p.I269= Synonymous 7/27 - 1
7-117176665-C-T c.807C>T p.I269= Synonymous 7/27 - 3
7-117176666-CAA-TGT c.808_810delinsTGT p.Q270C Missense 7/27 - 1
7-117176666-C-G c.808C>G p.Q270E Missense 7/27 - 2
7-117176668-A-G c.810A>G p.Q270= Synonymous 7/27 - 2
7-117176669-AT-A c.811del p.S271Lfs*14 Frameshift 7/27 - 1
7-117176669-TC-GG c.811_812delinsGG p.S271G Missense 7/27 - 1
7-117176669-T-G c.811T>G p.S271A Missense 7/27 - 2
7-117176670-C-G c.812C>G p.S271C Missense 7/27 - 1
7-117176670-C-T c.812C>T p.S271F Missense 7/27 - 3
7-117176672-G-T c.814G>T p.V272F Missense 7/27 - 1
7-117176673-T-C c.815T>C p.V272A Missense 7/27 - 4
7-117176675-A-C c.817A>C p.K273Q Missense 7/27 - 2
7-117176675-A-G c.817A>G p.K273E Missense 7/27 - 1
7-117176676-A-T c.818A>T p.K273M Missense 7/27 - 3
7-117176678-GCA-TGT c.820_822delinsTGT p.A274C Missense 7/27 - 1
7-117176679-CA-AC c.821_822delinsAC p.A274D Missense 7/27 - 1
7-117176683-C-A c.825C>A p.Y275* Nonsense 7/27 - 2
7-117176683-C-G c.825C>G p.Y275* Nonsense 7/27 - 6
7-117176683-C-T c.825C>T p.Y275= Synonymous 7/27 - 1
7-117176684-T-A c.826T>A p.C276S Missense 7/27 - 5
7-117176685-G-C c.827G>C p.C276S Missense 7/27 - 3
7-117176685-G-T c.827G>T p.C276F Missense 7/27 - 1
7-117176686-C-A c.828C>A p.C276* Nonsense 7/27 - 10
7-117176686-C-T c.828C>T p.C276= Synonymous 7/27 - 2
7-117176687-T-A c.829T>A p.W277R Missense 7/27 - 1
7-117176687-T-C c.829T>C p.W277R Missense 7/27 - 1
7-117176688-G-A c.830G>A p.W277* Nonsense 7/27 - 2
7-117176689-G-A c.831G>A p.W277* Nonsense 7/27 - 4
7-117176689-G-T c.831G>T p.W277C Missense 7/27 - 1
7-117176693-G-A c.835G>A p.E279K Missense 7/27 - 5
7-117176693-G-T c.835G>T p.E279* Nonsense 7/27 - 1
7-117176695-A-T c.837A>T p.E279D Missense 7/27 - 1
7-117176696-AG-A c.838del p.A280Qfs*5 Frameshift 7/27 - 1
7-117176696-G-A c.838G>A p.A280T Missense 7/27 - 1
7-117176696-G-T c.838G>T p.A280S Missense 7/27 - 2
7-117176697-C-T c.839C>T p.A280V Missense 7/27 - 5
7-117176699-A-G c.841A>G p.M281V Missense 7/27 - 3
7-117176700-T-C c.842T>C p.M281T Missense 7/27 - 3
7-117176701-G-GT c.843_844insT p.E282* Nonsense 7/27 - 1
7-117176702-G-A c.844G>A p.E282K Missense 7/27 - 1
7-117176702-G-C c.844G>C p.E282Q Missense 7/27 - 1
7-117176704-A-G c.846A>G p.E282= Synonymous 7/27 - 2
7-117176704-A-T c.846A>T p.E282D Missense 7/27 - 3
7-117176706-A-G c.848A>G p.K283R Missense 7/27 - 1
7-117176706-A-AAT c.849_850insTA p.M284* Nonsense 7/27 - 1
7-117176702-GA-G c.850del p.M284* Frameshift 7/27 - 1
7-117176702-G-GA c.850dup p.M284Nfs*3 Frameshift 7/27 - 6
7-117176708-AT-TA c.850_851delinsTA p.M284* Nonsense 7/27 - 1
7-117176709-T-C c.851T>C p.M284T Missense 7/27 - 2
7-117176710-G-A c.852G>A p.M284I Missense 7/27 - 2
7-117176710-G-C c.852G>C p.M284I Missense 7/27 - 2
7-117176710-G-T c.852G>T p.M284I Missense 7/27 - 2
7-117176711-A-T c.853A>T p.I285F Missense 7/27 - 10
7-117176712-T-C c.854T>C p.I285T Missense 7/27 - 2
7-117176713-T-A c.855T>A p.I285= Synonymous 7/27 - 1
7-117176713-T-C c.855T>C p.I285= Synonymous 7/27 - 1
7-117176717-A-C c.859A>C p.N287H Missense 7/27 - 4
7-117176717-A-T c.859A>T p.N287Y Missense 7/27 - 17
7-117176714-GA-G c.860del p.N287Tfs*2 Frameshift 7/27 - 1
7-117176714-G-GA c.860dup p.N287Kfs*21 Frameshift 7/27 - 4
7-117176718-A-G c.860A>G p.N287S Missense 7/27 - 2
7-117176716-AAACTT-A c.861_865del p.N287Kfs*19 Frameshift 7/27 - 5
7-117176719-C-A c.861C>A p.N287K Missense 7/27 - 2
7-117176719-C-G c.861C>G p.N287K Missense 7/27 - 9
7-117176720-T-C c.862T>C p.L288= Synonymous 7/27 - 3
7-117176721-T-G c.863T>G p.L288* Nonsense 7/27 - 1
7-117176721-TAAGAC-T c.865_869del p.R289Nfs*17 SpliceDonorDeletion 7/27 - 1
7-117176721-TA-T c.865del p.R289Dfs*5 Frameshift 7/27 - 1
7-117176723-AGA-CAT c.865_867delinsCAT p.R289H Missense 7/27 - 1
7-117176723-AGA-TGT c.865_867delinsTGT p.R289C Missense 7/27 - 1
7-117176723-A-T c.865A>T p.R289* Nonsense 7/27 - 8
7-117176724-G-C c.866G>C p.R289T Missense 7/27 - 1
7-117176726-C-T c.868C>T p.Q290* Nonsense 7/27 - 11
7-117176727-A-AAACAGAACTGAAACTGACTC c.869_869+1insAACAGAACTGAAACTGACTC p.R297Qfs*4 SpliceDonorInsertion - - 1
7-117176727-A-G c.869A>G p.Q290R Missense 7/27 - 1
7-117176728-G-T c.869+1G>T - IntronicSNV - 7/26 1
7-117176729-T-G c.869+2T>G - IntronicSNV - 7/26 1
7-117176730-A-T c.869+3A>T - IntronicSNV - 7/26 2
7-117176731-A-G c.869+4A>G - IntronicSNV - 7/26 1
7-117176732-G-A c.869+5G>A - IntronicSNV - 7/26 5
7-117176738-C-T c.869+11C>T - IntronicSNV - 7/26 9
7-117176741-A-G c.869+14A>G - IntronicSNV - 7/26 1
7-117176815-T-A c.869+88T>A - IntronicSNV - 7/26 1
7-117176960-C-A c.869+233C>A - IntronicSNV - 7/26 1
7-117177013-G-A c.869+286G>A - IntronicSNV - 7/26 2
7-117177453-A-ATT c.869+730_869+731dup - IntronicInsertion - 7/26 1
7-117177453-A-AT c.869+731dup - IntronicInsertion - 7/26 1
7-117177939-A-G c.869+1212A>G - IntronicSNV - 7/26 1
7-117178208-A-G c.869+1481A>G - IntronicSNV - 7/26 1
7-117178754-A-G c.870-1400A>G - IntronicSNV - 7/26 2
7-117178929-G-A c.870-1225G>A - IntronicSNV - 7/26 2
7-117179059-A-C c.870-1095A>C - IntronicSNV - 7/26 1
7-117179059-A-G c.870-1095A>G - IntronicSNV - 7/26 1
7-117179986-A-G c.870-168A>G - IntronicSNV - 7/26 1
7-117180152-A-G c.870-2A>G - IntronicSNV - 7/26 1
7-117180152-A-T c.870-2A>T - IntronicSNV - 7/26 1
7-117180153-G-A c.870-1G>A - IntronicSNV - 7/26 1
7-117180153-G-C c.870-1G>C - IntronicSNV - 7/26 1
7-117180155-A-G c.871A>G p.T291A Missense 8/27 - 2
7-117180156-C-G c.872C>G p.T291R Missense 8/27 - 2
7-117180156-C-T c.872C>T p.T291I Missense 8/27 - 2
7-117180157-A-C c.873A>C p.T291= Synonymous 8/27 - 1
7-117180158-G-A c.874G>A p.E292K Missense 8/27 - 4
7-117180158-G-C c.874G>C p.E292Q Missense 8/27 - 1
7-117180158-G-T c.874G>T p.E292* Nonsense 8/27 - 2
7-117180159-A-T c.875A>T p.E292V Missense 8/27 - 1
7-117180160-A-G c.876A>G p.E292= Synonymous 8/27 - 1
7-117180161-C-A c.877C>A p.L293M Missense 8/27 - 1
7-117180161-CTG-TGT c.877_879delinsTGT p.L293C Missense 8/27 - 1
7-117180161-C-T c.877C>T p.L293= Synonymous 8/27 - 3
7-117180163-G-A c.879G>A p.L293= Synonymous 8/27 - 2
7-117180163-G-C c.879G>C p.L293= Synonymous 8/27 - 2
7-117180163-G-T c.879G>T p.L293= Synonymous 8/27 - 2
7-117180164-AAA-TGT c.880_882delinsTGT p.K294C Missense 8/27 - 1
7-117180164-A-T c.880A>T p.K294* Nonsense 8/27 - 1
7-117180167-CT-GC c.883_884delinsGC p.L295A Missense 8/27 - 1
7-117180167-CTG-TGT c.883_885delinsTGT p.L295C Missense 8/27 - 2
7-117180168-CT-C c.884del p.L295Rfs*8 Frameshift 8/27 - 1
7-117180171-C-T c.887C>T p.T296I Missense 8/27 - 1
7-117180172-T-A c.888T>A p.T296= Synonymous 8/27 - 1
7-117180172-T-C c.888T>C p.T296= Synonymous 8/27 - 2
7-117180172-T-G c.888T>G p.T296= Synonymous 8/27 - 1
7-117180173-C-A c.889C>A p.R297= Synonymous 8/27 - 3
7-117180173-CGG-TGT c.889_891delinsTGT p.R297C Missense 8/27 - 1
7-117180173-C-T c.889C>T p.R297W Missense 8/27 - 10
7-117180173-TC-T c.889del p.R297Gfs*6 Frameshift 8/27 - 1
7-117180174-G-A c.890G>A p.R297Q Missense 8/27 - 27
7-117180176-AAG-TGT c.892_894delinsTGT p.K298C Missense 8/27 - 2
7-117180176-A-G c.892A>G p.K298E Missense 8/27 - 1
7-117180177-A-T c.893A>T p.K298M Missense 8/27 - 1
7-117180178-G-A c.894G>A p.K298= Synonymous 8/27 - 1
7-117180178-G-C c.894G>C p.K298N Missense 8/27 - 1
7-117180177-AG-A c.895del p.A299Qfs*4 Frameshift 8/27 - 1
7-117180179-G-A c.895G>A p.A299T Missense 8/27 - 1
7-117180179-GC-AG c.895_896delinsAG p.A299R Missense 8/27 - 1
7-117180179-GCA-TGT c.895_897delinsTGT p.A299C Missense 8/27 - 2
7-117180180-C-T c.896C>T p.A299V Missense 8/27 - 1
7-117180181-A-T c.897A>T p.A299= Synonymous 8/27 - 1
7-117180182-G-A c.898G>A p.A300T Missense 8/27 - 2
7-117180182-GC-TG c.898_899delinsTG p.A300C Missense 8/27 - 1
7-117180183-C-G c.899C>G p.A300G Missense 8/27 - 2
7-117180183-C-T c.899C>T p.A300V Missense 8/27 - 1
7-117180184-C-A c.900C>A p.A300= Synonymous 8/27 - 2
7-117180184-C-T c.900C>T p.A300= Synonymous 8/27 - 1
7-117180185-T-C c.901T>C p.Y301H Missense 8/27 - 1
7-117180186-A-G c.902A>G p.Y301C Missense 8/27 - 17
7-117180188-G-C c.904G>C p.V302L Missense 8/27 - 1
7-117180188-GTG-ATC c.904_906delinsATC p.V302I Missense 8/27 - 1
7-117180188-GTG-TGT c.904_906delinsTGT p.V302C Missense 8/27 - 1
7-117180189-T-C c.905T>C p.V302A Missense 8/27 - 1
7-117180189-T-G c.905T>G p.V302G Missense 8/27 - 1
7-117180190-G-T c.906G>T p.V302= Synonymous 8/27 - 1
7-117180191-AGA-TGT c.907_909delinsTGT p.R303C Missense 8/27 - 8
7-117180191-AG-CA c.907_908delinsCA p.R303Q Missense 8/27 - 4
7-117180191-AG-GA c.907_908delinsGA p.R303E Missense 8/27 - 2
7-117180192-G-A c.908G>A p.R303K Missense 8/27 - 1
7-117180194-TA-AC c.910_911delinsAC p.Y304T Missense 8/27 - 1
7-117180194-TA-GC c.910_911delinsGC p.Y304A Missense 8/27 - 3
7-117180194-T-C c.910T>C p.Y304H Missense 8/27 - 1
7-117180193-A-ATAC c.911_913dup p.Y304dup InFrameInsertion 8/27 - 1
7-117180195-A-G c.911A>G p.Y304C Missense 8/27 - 1
7-117180195-A-T c.911A>T p.Y304F Missense 8/27 - 1
7-117180196-C-G c.912C>G p.Y304* Nonsense 8/27 - 1
7-117180196-C-T c.912C>T p.Y304= Synonymous 8/27 - 1
7-117180197-T-A c.913T>A p.F305I Missense 8/27 - 1
7-117180197-T-G c.913T>G p.F305V Missense 8/27 - 2
7-117180198-T-G c.914T>G p.F305C Missense 8/27 - 1
7-117180199-C-T c.915C>T p.F305= Synonymous 8/27 - 3
7-117180200-AA-TG c.916_917delinsTG p.N306C Missense 8/27 - 4
7-117180200-AAT-GAG c.916_918delinsGAG p.N306E Missense 8/27 - 2
7-117180200-A-G c.916A>G p.N306D Missense 8/27 - 3
7-117180201-A-G c.917A>G p.N306S Missense 8/27 - 4
7-117180201-AT-GG c.917_918delinsGG p.N306R Missense 8/27 - 1
7-117180202-T-C c.918T>C p.N306= Synonymous 8/27 - 2
7-117180203-A-G c.919A>G p.S307G Missense 8/27 - 1
7-117180203-A-T c.919A>T p.S307C Missense 8/27 - 2
7-117180204-G-A c.920G>A p.S307N Missense 8/27 - 5
7-117180203-A-C c.919A>C p.S307R Missense 8/27 - 1
7-117180205-C-A c.921C>A p.S307R Missense 8/27 - 2
7-117180205-C-G c.921C>G p.S307R Missense 8/27 - 1
7-117180205-C-T c.921C>T p.S307= Synonymous 8/27 - 1
7-117180206-T-G c.922T>G p.S308A Missense 8/27 - 1
7-117180207-C-A c.923C>A p.S308* Nonsense 8/27 - 1
7-117180207-C-G c.923C>G p.S308* Nonsense 8/27 - 1
7-117180209-G-A c.925G>A p.A309T Missense 8/27 - 3
7-117180209-GCC-CAA c.925_927delinsCAA p.A309Q Missense 8/27 - 1
7-117180209-GC-TG c.925_926delinsTG p.A309C Missense 8/27 - 1
7-117180209-G-T c.925G>T p.A309S Missense 8/27 - 1
7-117180210-C-A c.926C>A p.A309D Missense 8/27 - 3
7-117180210-C-G c.926C>G p.A309G Missense 8/27 - 7
7-117180210-C-T c.926C>T p.A309V Missense 8/27 - 3
7-117180211-C-A c.927C>A p.A309= Synonymous 8/27 - 5
7-117180211-C-G c.927C>G p.A309= Synonymous 8/27 - 7
7-117180211-C-T c.927C>T p.A309= Synonymous 8/27 - 6
7-117180212-TT-CG c.928_929delinsCG p.F310R Missense 8/27 - 1
7-117180213-T-G c.929T>G p.F310C Missense 8/27 - 2
7-117180214-C-A c.930C>A p.F310L Missense 8/27 - 1
7-117180214-C-G c.930C>G p.F310L Missense 8/27 - 1
7-117180214-C-T c.930C>T p.F310= Synonymous 8/27 - 6
7-117180214-TC-T c.930del p.F311Sfs*17 Frameshift 8/27 - 1
7-117180215-T-C c.931T>C p.F311L Missense 8/27 - 7
7-117180215-TT-CG c.931_932delinsCG p.F311R Missense 8/27 - 1
7-117180217-C-A c.933C>A p.F311L Missense 8/27 - 7
7-117180217-C-G c.933C>G p.F311L Missense 8/27 - 12
7-117180216-T-G c.932T>G p.F311C Missense 8/27 - 3
7-117180218-TT-GC c.934_935delinsGC p.F312A Missense 8/27 - 3
7-117180210-CCTT-C c.935_937del p.F312del InFrameDeletion 8/27 - 19
7-117180219-T-G c.935T>G p.F312C Missense 8/27 - 2
7-117180220-C-T c.936C>T p.F312= Synonymous 8/27 - 3
7-117180222-C-T c.938C>T p.S313L Missense 8/27 - 2
7-117180223-A-C c.939A>C p.S313= Synonymous 8/27 - 2
7-117180223-A-G c.939A>G p.S313= Synonymous 8/27 - 2
7-117180224-AGGG-A c.940_942del p.G314del InFrameDeletion 8/27 - 1
7-117180224-G-A c.940G>A p.G314R Missense 8/27 - 5
7-117180224-G-C c.940G>C p.G314R Missense 8/27 - 3
7-117180224-GGG-TGT c.940_942delinsTGT p.G314C Missense 8/27 - 2
7-117180224-G-T c.940G>T p.G314W Missense 8/27 - 1
7-117180225-G-A c.941G>A p.G314E Missense 8/27 - 12
7-117180225-G-C c.941G>C p.G314A Missense 8/27 - 4
7-117180225-G-T c.941G>T p.G314V Missense 8/27 - 2
7-117180226-G-T c.942G>T p.G314= Synonymous 8/27 - 1
7-117180227-T-C c.943T>C p.F315L Missense 8/27 - 3
7-117180229-C-A c.945C>A p.F315L Missense 8/27 - 1
7-117180229-C-G c.945C>G p.F315L Missense 8/27 - 3
7-117180228-T-C c.944T>C p.F315S Missense 8/27 - 2
7-117180228-T-G c.944T>G p.F315C Missense 8/27 - 1
7-117180229-C-T c.945C>T p.F315= Synonymous 8/27 - 4
7-117180230-T-C c.946T>C p.F316L Missense 8/27 - 1
7-117180230-TT-GC c.946_947delinsGC p.F316A Missense 8/27 - 1
7-117180232-T-A c.948T>A p.F316L Missense 8/27 - 1
7-117180231-T-A c.947T>A p.F316Y Missense 8/27 - 1
7-117180231-T-G c.947T>G p.F316C Missense 8/27 - 4
7-117180229-CT-C c.948del p.F316Lfs*12 Frameshift 8/27 - 22
7-117180232-T-G c.948T>G p.F316L Missense 8/27 - 2
7-117180233-G-A c.949G>A p.V317M Missense 8/27 - 1
7-117180234-T-A c.950T>A p.V317E Missense 8/27 - 4
7-117180234-T-C c.950T>C p.V317A Missense 8/27 - 2
7-117180234-T-G c.950T>G p.V317G Missense 8/27 - 2
7-117180235-G-A c.951G>A p.V317= Synonymous 8/27 - 1
7-117180235-G-C c.951G>C p.V317= Synonymous 8/27 - 1
7-117180235-G-T c.951G>T p.V317= Synonymous 8/27 - 1
7-117180232-TGTG-T c.952_954del p.V318del InFrameDeletion 8/27 - 1
7-117180237-T-C c.953T>C p.V318A Missense 8/27 - 1
7-117180238-G-A c.954G>A p.V318= Synonymous 8/27 - 1
7-117180242-T-C c.958T>C p.L320= Synonymous 8/27 - 1
7-117180242-T-G c.958T>G p.L320V Missense 8/27 - 15
7-117180242-TT-CC c.958_959delinsCC p.L320P Missense 8/27 - 1
7-117180244-A-G c.960A>G p.L320= Synonymous 8/27 - 4
7-117180243-TA-GT c.959_960delinsGT p.L320C Missense 8/27 - 1
7-117180243-T-TA c.960dup p.S321Ifs*43 Frameshift 8/27 - 4
7-117180244-A-C c.960A>C p.L320F Missense 8/27 - 1
7-117180244-A-T c.960A>T p.L320F Missense 8/27 - 2
7-117180245-T-C c.961T>C p.S321P Missense 8/27 - 1
7-117180245-T-G c.961T>G p.S321A Missense 8/27 - 1
7-117180246-C-T c.962C>T p.S321F Missense 8/27 - 3
7-117180247-T-C c.963T>C p.S321= Synonymous 8/27 - 1
7-117180247-T-G c.963T>G p.S321= Synonymous 8/27 - 1
7-117180248-G-A c.964G>A p.V322M Missense 8/27 - 4
7-117180248-GTG-TGT c.964_966delinsTGT p.V322C Missense 8/27 - 2
7-117180249-T-C c.965T>C p.V322A Missense 8/27 - 1
7-117180251-CT-TG c.967_968delinsTG p.L323C Missense 8/27 - 2
7-117180252-T-C c.968T>C p.L323P Missense 8/27 - 1
7-117180253-T-C c.969T>C p.L323= Synonymous 8/27 - 1
7-117180254-C-T c.970C>T p.P324S Missense 8/27 - 5
7-117180253-T-TC c.972dup p.Y325Lfs*39 Frameshift 8/27 - 1
7-117180256-C-G c.972C>G p.P324= Synonymous 8/27 - 2
7-117180256-C-T c.972C>T p.P324= Synonymous 8/27 - 1
7-117180258-A-C c.974A>C p.Y325S Missense 8/27 - 1
7-117180258-A-G c.974A>G p.Y325C Missense 8/27 - 4
7-117180258-A-T c.974A>T p.Y325F Missense 8/27 - 1
7-117180259-T-A c.975T>A p.Y325* Nonsense 8/27 - 1
7-117180260-GCA-TGT c.976_978delinsTGT p.A326C Missense 8/27 - 2
7-117180261-C-G c.977C>G p.A326G Missense 8/27 - 1
7-117180261-C-T c.977C>T p.A326V Missense 8/27 - 1
7-117180262-A-G c.978A>G p.A326= Synonymous 8/27 - 1
7-117180263-C-A c.979C>A p.L327I Missense 8/27 - 2
7-117180263-C-T c.979C>T p.L327= Synonymous 8/27 - 2
7-117180263-CTA-TGT c.979_981delinsTGT p.L327C Missense 8/27 - 1
7-117180264-T-G c.980T>G p.L327R Missense 8/27 - 3
7-117180265-A-G c.981A>G p.L327= Synonymous 8/27 - 1
7-117180265-A-T c.981A>T p.L327= Synonymous 8/27 - 1
7-117180266-A-G c.982A>G p.I328V Missense 8/27 - 1
7-117180268-C-G c.984C>G p.I328M Missense 8/27 - 1
7-117180269-AAA-TGT c.985_987delinsTGT p.K329C Missense 8/27 - 1
7-117180269-AA-GC c.985_986delinsGC p.K329A Missense 8/27 - 2
7-117180269-A-G c.985A>G p.K329E Missense 8/27 - 1
7-117180269-A-T c.985A>T p.K329* Nonsense 8/27 - 1
7-117180270-A-G c.986A>G p.K329R Missense 8/27 - 1
7-117180268-CA-C c.987del p.G330Efs*39 Frameshift 8/27 - 1
7-117180272-G-A c.988G>A p.G330R Missense 8/27 - 3
7-117180272-G-C c.988G>C p.G330R Missense 8/27 - 2
7-117180272-GGA-AGC c.988_990delinsAGC p.G330S Missense 8/27 - 1
7-117180272-GGA-TGT c.988_990delinsTGT p.G330C Missense 8/27 - 1
7-117180272-G-T c.988G>T p.G330* Nonsense 8/27 - 22
7-117180273-G-A c.989G>A p.G330E Missense 8/27 - 11
7-117180275-AT-TG c.991_992delinsTG p.I331C Missense 8/27 - 2
7-117180276-T-A c.992T>A p.I331N Missense 8/27 - 3
7-117180276-T-C c.992T>C p.I331T Missense 8/27 - 1
7-117180277-C-G c.993C>G p.I331M Missense 8/27 - 1
7-117180278-AT-TG c.994_995delinsTG p.I332C Missense 8/27 - 2
7-117180279-T-C c.995T>C p.I332T Missense 8/27 - 2
7-117180281-C-T c.997C>T p.L333F Missense 8/27 - 6
7-117180281-CT-TG c.997_998delinsTG p.L333C Missense 8/27 - 4
7-117180282-T-C c.998T>C p.L333P Missense 8/27 - 1
7-117180284-CG-AA c.1000_1001delinsAA p.R334K Missense 8/27 - 1
7-117180284-CG-GA c.1000_1001delinsGA p.R334E Missense 8/27 - 2
7-117180284-CG-GC c.1000_1001delinsGC p.R334A Missense 8/27 - 6
7-117180284-CGG-TGT c.1000_1002delinsTGT p.R334C Missense 8/27 - 28
7-117180284-C-T c.1000C>T p.R334W Missense 8/27 - 228
7-117180285-G-A c.1001G>A p.R334Q Missense 8/27 - 22
7-117180285-GG-AT c.1001_1002delinsAT p.R334H Missense 8/27 - 2
7-117180285-G-T c.1001G>T p.R334L Missense 8/27 - 14
7-117180286-G-A c.1002G>A p.R334= Synonymous 8/27 - 1
7-117180287-AAA-TGT c.1003_1005delinsTGT p.K335C Missense 8/27 - 8
7-117180287-AA-GC c.1003_1004delinsGC p.K335A Missense 8/27 - 7
7-117180287-A-G c.1003A>G p.K335E Missense 8/27 - 5
7-117180289-A-ATC c.1005_1006insTC p.I336Sfs*34 Frameshift 8/27 - 1
7-117180289-A-G c.1005A>G p.K335= Synonymous 8/27 - 1
7-117180286-GA-G c.1006del p.I336Yfs*33 Frameshift 8/27 - 1
7-117180290-A-AG c.1006_1007insG p.I336Sfs*28 Frameshift 8/27 - 6
7-117180290-A-C c.1006A>C p.I336L Missense 8/27 - 1
7-117180290-A-G c.1006A>G p.I336V Missense 8/27 - 1
7-117180290-A-T c.1006A>T p.I336L Missense 8/27 - 1
7-117180290-ATA-TGT c.1006_1008delinsTGT p.I336C Missense 8/27 - 5
7-117180291-T-A c.1007T>A p.I336K Missense 8/27 - 36
7-117180291-T-C c.1007T>C p.I336T Missense 8/27 - 3
7-117180292-A-G c.1008A>G p.I336M Missense 8/27 - 1
7-117180293-T-C c.1009T>C p.F337L Missense 8/27 - 2
7-117180293-T-G c.1009T>G p.F337V Missense 8/27 - 3
7-117180293-TT-CG c.1009_1010delinsCG p.F337R Missense 8/27 - 1
7-117180293-TT-GC c.1009_1010delinsGC p.F337A Missense 8/27 - 7
7-117180295-C-A c.1011C>A p.F337L Missense 8/27 - 2
7-117180295-C-G c.1011C>G p.F337L Missense 8/27 - 2
7-117180294-T-A c.1010T>A p.F337Y Missense 8/27 - 2
7-117180294-T-C c.1010T>C p.F337S Missense 8/27 - 7
7-117180294-T-G c.1010T>G p.F337C Missense 8/27 - 13
7-117180296-AC-CA c.1012_1013delinsCA p.T338H Missense 8/27 - 1
7-117180296-AC-GG c.1012_1013delinsGG p.T338G Missense 8/27 - 1
7-117180296-AC-TG c.1012_1013delinsTG p.T338C Missense 8/27 - 23
7-117180296-A-G c.1012A>G p.T338A Missense 8/27 - 15
7-117180296-A-T c.1012A>T p.T338S Missense 8/27 - 2
7-117180297-CC-TG c.1013_1014delinsTG p.T338M Missense 8/27 - 1
7-117180297-C-G c.1013C>G p.T338S Missense 8/27 - 2
7-117180297-C-T c.1013C>T p.T338I Missense 8/27 - 60
7-117180298-C-A c.1014C>A p.T338= Synonymous 8/27 - 1
7-117180299-AC-TG c.1015_1016delinsTG p.T339C Missense 8/27 - 3
7-117180299-A-G c.1015A>G p.T339A Missense 8/27 - 3
7-117180302-A-G c.1018A>G p.I340V Missense 8/27 - 3
7-117180302-AT-TG c.1018_1019delinsTG p.I340C Missense 8/27 - 4
7-117180303-T-A c.1019T>A p.I340N Missense 8/27 - 2
7-117180303-T-C c.1019T>C p.I340T Missense 8/27 - 1
7-117180302-A-ATC c.1021_1022dup p.F342Hfs*28 Frameshift 8/27 - 2
7-117180305-T-C c.1021T>C p.S341P Missense 8/27 - 21
7-117180305-TC-AA c.1021_1022delinsAA p.S341K Missense 8/27 - 4
7-117180305-TCA-AAC c.1021_1023delinsAAC p.S341N Missense 8/27 - 1
7-117180305-T-G c.1021T>G p.S341A Missense 8/27 - 8
7-117180306-CA-AT c.1022_1023delinsAT p.S341Y Missense 8/27 - 1
7-117180306-CA-GT c.1022_1023delinsGT p.S341C Missense 8/27 - 10
7-117180307-A-G c.1023A>G p.S341= Synonymous 8/27 - 1
7-117180308-ATT-A c.1024_1025del p.F342Lfs*21 Frameshift 8/27 - 1
7-117180308-T-TAA c.1024_1025insAA p.F342* Nonsense 8/27 - 1
7-117180308-TT-GC c.1024_1025delinsGC p.F342A Missense 8/27 - 1
7-117180309-T-A c.1025T>A p.F342Y Missense 8/27 - 1
7-117180309-T-G c.1025T>G p.F342C Missense 8/27 - 2
7-117180310-C-T c.1026C>T p.F342= Synonymous 8/27 - 1
7-117180310-C-CTAA c.1027_1028insAAT p.F342_C343ins* InFrameInsertion 8/27 - 1
7-117180311-T-A c.1027T>A p.C343S Missense 8/27 - 3
7-117180311-T-C c.1027T>C p.C343R Missense 8/27 - 1
7-117180312-G-C c.1028G>C p.C343S Missense 8/27 - 3
7-117180312-G-T c.1028G>T p.C343F Missense 8/27 - 3
7-117180313-GC-G c.1029del p.C343* Frameshift 8/27 - 7
7-117180314-A-G c.1030A>G p.I344V Missense 8/27 - 1
7-117180314-AT-CA c.1030_1031delinsCA p.I344H Missense 8/27 - 1
7-117180314-AT-GC c.1030_1031delinsGC p.I344A Missense 8/27 - 1
7-117180314-AT-TG c.1030_1031delinsTG p.I344C Missense 8/27 - 15
7-117180315-TT-AG c.1031_1032delinsAG p.I344K Missense 8/27 - 3
7-117180316-T-C c.1032T>C p.I344= Synonymous 8/27 - 1
7-117180316-T-G c.1032T>G p.I344M Missense 8/27 - 1
7-117180317-GT-CA c.1033_1034delinsCA p.V345H Missense 8/27 - 1
7-117180317-GTT-AAG c.1033_1035delinsAAG p.V345K Missense 8/27 - 3
7-117180317-GT-TG c.1033_1034delinsTG p.V345C Missense 8/27 - 6
7-117180319-T-C c.1035T>C p.V345= Synonymous 8/27 - 2
7-117180320-C-T c.1036C>T p.L346= Synonymous 8/27 - 3
7-117180320-CTG-TGT c.1036_1038delinsTGT p.L346C Missense 8/27 - 3
7-117180320-CTG-TTT c.1036_1038delinsTTT p.L346F Missense 8/27 - 1
7-117180321-T-C c.1037T>C p.L346P Missense 8/27 - 11
7-117180321-T-TA c.1037_1038insA p.R347Afs*17 Frameshift 8/27 - 1
7-117180323-C-A c.1039C>A p.R347S Missense 8/27 - 4
7-117180323-CGC-AAG c.1039_1041delinsAAG p.R347K Missense 8/27 - 3
7-117180323-CGC-GAG c.1039_1041delinsGAG p.R347E Missense 8/27 - 3
7-117180323-CGC-TGA c.1039_1041delinsTGA p.R347* Nonsense 8/27 - 2
7-117180323-CG-GA c.1039_1040delinsGA p.R347D Missense 8/27 - 13
7-117180323-CG-GC c.1039_1040delinsGC p.R347A Missense 8/27 - 4
7-117180323-CG-GT c.1039_1040delinsGT p.R347V Missense 8/27 - 1
7-117180323-C-T c.1039C>T p.R347C Missense 8/27 - 23
7-117180324-G-A c.1040G>A p.R347H Missense 8/27 - 131
7-117180324-G-C c.1040G>C p.R347P Missense 8/27 - 201
7-117180324-GC-AA c.1040_1041delinsAA p.R347Q Missense 8/27 - 2
7-117180324-G-T c.1040G>T p.R347L Missense 8/27 - 20
7-117180325-C-A c.1041C>A p.R347= Synonymous 8/27 - 1
7-117180325-C-G c.1041C>G p.R347= Synonymous 8/27 - 1
7-117180325-C-T c.1041C>T p.R347= Synonymous 8/27 - 1
7-117180326-A-G c.1042A>G p.M348V Missense 8/27 - 7
7-117180326-ATG-TGT c.1042_1044delinsTGT p.M348C Missense 8/27 - 12
7-117180327-T-A c.1043T>A p.M348K Missense 8/27 - 17
7-117180327-T-G c.1043T>G p.M348R Missense 8/27 - 1
7-117180329-G-C c.1045G>C p.A349P Missense 8/27 - 1
7-117180329-GC-AA c.1045_1046delinsAA p.A349K Missense 8/27 - 2
7-117180329-GC-AG c.1045_1046delinsAG p.A349R Missense 8/27 - 1
7-117180329-GCG-TGT c.1045_1047delinsTGT p.A349C Missense 8/27 - 4
7-117180329-G-T c.1045G>T p.A349S Missense 8/27 - 1
7-117180330-C-T c.1046C>T p.A349V Missense 8/27 - 17
7-117180331-G-A c.1047G>A p.A349= Synonymous 8/27 - 2
7-117180332-GT-TG c.1048_1049delinsTG p.V350C Missense 8/27 - 3
7-117180333-T-C c.1049T>C p.V350A Missense 8/27 - 2
7-117180334-C-G c.1050C>G p.V350= Synonymous 8/27 - 1
7-117180335-AC-TG c.1051_1052delinsTG p.T351C Missense 8/27 - 7
7-117180335-A-G c.1051A>G p.T351A Missense 8/27 - 1
7-117180335-A-T c.1051A>T p.T351S Missense 8/27 - 4
7-117180336-C-G c.1052C>G p.T351S Missense 8/27 - 8
7-117180336-C-T c.1052C>T p.T351I Missense 8/27 - 4
7-117180336-CT-TG c.1052_1053delinsTG p.T351M Missense 8/27 - 1
7-117180337-T-A c.1053T>A p.T351= Synonymous 8/27 - 1
7-117180337-T-C c.1053T>C p.T351= Synonymous 8/27 - 1
7-117180337-T-G c.1053T>G p.T351= Synonymous 8/27 - 1
7-117180338-C-A c.1054C>A p.R352= Synonymous 8/27 - 1
7-117180338-C-G c.1054C>G p.R352G Missense 8/27 - 3
7-117180338-CG-AA c.1054_1055delinsAA p.R352K Missense 8/27 - 3
7-117180338-CG-GA c.1054_1055delinsGA p.R352E Missense 8/27 - 8
7-117180338-CG-GC c.1054_1055delinsGC p.R352A Missense 8/27 - 4
7-117180338-CGG-TGT c.1054_1056delinsTGT p.R352C Missense 8/27 - 22
7-117180338-C-T c.1054C>T p.R352W Missense 8/27 - 13
7-117180340-G-A c.1056G>A p.R352= Synonymous 8/27 - 1
7-117180340-G-C c.1056G>C p.R352= Synonymous 8/27 - 1
7-117180340-G-T c.1056G>T p.R352= Synonymous 8/27 - 1
7-117180339-G-A c.1055G>A p.R352Q Missense 8/27 - 85
7-117180339-GG-AT c.1055_1056delinsAT p.R352H Missense 8/27 - 3
7-117180341-CAA-TGT c.1057_1059delinsTGT p.Q353C Missense 8/27 - 5
7-117180343-A-C c.1059A>C p.Q353H Missense 8/27 - 4
7-117180343-A-G c.1059A>G p.Q353= Synonymous 8/27 - 3
7-117180343-A-T c.1059A>T p.Q353H Missense 8/27 - 1
7-117180344-T-A c.1060T>A p.F354I Missense 8/27 - 1
7-117180345-T-G c.1061T>G p.F354C Missense 8/27 - 2
7-117180346-T-A c.1062T>A p.F354L Missense 8/27 - 1
7-117180346-T-C c.1062T>C p.F354= Synonymous 8/27 - 1
7-117180347-CC-TG c.1063_1064delinsTG p.P355C Missense 8/27 - 2
7-117180347-CC-TT c.1063_1064delinsTT p.P355F Missense 8/27 - 1
7-117180347-C-G c.1063C>G p.P355A Missense 8/27 - 2
7-117180347-C-T c.1063C>T p.P355S Missense 8/27 - 12
7-117180348-C-G c.1064C>G p.P355R Missense 8/27 - 2
7-117180348-C-T c.1064C>T p.P355L Missense 8/27 - 8
7-117180351-G-A c.1067G>A p.W356* Nonsense 8/27 - 1
7-117180351-G-C c.1067G>C p.W356S Missense 8/27 - 1
7-117180352-G-A c.1068G>A p.W356* Nonsense 8/27 - 1
7-117180352-G-C c.1068G>C p.W356C Missense 8/27 - 4
7-117180352-G-T c.1068G>T p.W356C Missense 8/27 - 4
7-117180353-G-A c.1069G>A p.A357T Missense 8/27 - 5
7-117180353-GC-TG c.1069_1070delinsTG p.A357C Missense 8/27 - 1
7-117180354-C-T c.1070C>T p.A357V Missense 8/27 - 5
7-117180354-GC-G c.1070del p.A357Vfs*12 Frameshift 8/27 - 1
7-117180355-T-C c.1071T>C p.A357= Synonymous 8/27 - 1
7-117180357-T-C c.1073T>C p.V358A Missense 8/27 - 1
7-117180358-A-G c.1074A>G p.V358= Synonymous 8/27 - 1
7-117180357-TACA-T c.1075_1077del p.Q359del InFrameDeletion 8/27 - 1
7-117180359-C-A c.1075C>A p.Q359K Missense 8/27 - 15
7-117180359-CAAAC-AAAA c.1075_1079delinsAAAA p.Q359Kfs*10 Frameshift 8/27 - 1
7-117180359-CAAAC-AAAAA c.1075_1079delinsAAAAA p.Q359_T360delinsKK MultiAAMissense 8/27 - 1
7-117180359-CAAACA-AAGAAG c.1075_1080delinsAAGAAG p.Q359_T360delinsKK MultiAAMissense 8/27 - 1
7-117180359-C-T c.1075C>T p.Q359* Nonsense 8/27 - 5
7-117180360-A-G c.1076A>G p.Q359R Missense 8/27 - 5
7-117180362-ACA-TGT c.1078_1080inv p.T360C Missense 8/27 - 1
7-117180362-A-G c.1078A>G p.T360A Missense 8/27 - 1
7-117180363-CA-AGAAG c.1079_1080delinsAGAAG p.T360delinsKK MultiAAMissense 8/27 - 1
7-117180363-C-A c.1079C>A p.T360K Missense 8/27 - 9
7-117180363-C-G c.1079C>G p.T360R Missense 8/27 - 6
7-117180363-C-T c.1079C>T p.T360I Missense 8/27 - 7
7-117180364-A-G c.1080A>G p.T360= Synonymous 8/27 - 1
7-117180365-AT-A c.1081del p.W361Gfs*8 Frameshift 8/27 - 5
7-117180365-T-A c.1081T>A p.W361R Missense 8/27 - 6
7-117180365-T-C c.1081T>C p.W361R Missense 8/27 - 6
7-117180365-TG-T c.1083del p.W361Cfs*8 Frameshift 8/27 - 1
7-117180367-G-A c.1083G>A p.W361* Nonsense 8/27 - 2
7-117180367-G-C c.1083G>C p.W361C Missense 8/27 - 1
7-117180367-G-T c.1083G>T p.W361C Missense 8/27 - 1
7-117180368-TA-GC c.1084_1085delinsGC p.Y362A Missense 8/27 - 1
7-117180369-A-C c.1085A>C p.Y362S Missense 8/27 - 3
7-117180370-T-A c.1086T>A p.Y362* Nonsense 8/27 - 2
7-117180370-T-C c.1086T>C p.Y362= Synonymous 8/27 - 1
7-117180370-T-G c.1086T>G p.Y362* Nonsense 8/27 - 1
7-117180371-G-A c.1087G>A p.D363N Missense 8/27 - 1
7-117180371-GA-TG c.1087_1088delinsTG p.D363C Missense 8/27 - 1
7-117180373-C-T c.1089C>T p.D363= Synonymous 8/27 - 1
7-117180374-T-A c.1090T>A p.S364T Missense 8/27 - 1
7-117180374-T-C c.1090T>C p.S364P Missense 8/27 - 8
7-117180374-TC-AA c.1090_1091delinsAA p.S364N Missense 8/27 - 1
7-117180374-TCT-GAG c.1090_1092delinsGAG p.S364E Missense 8/27 - 1
7-117180374-T-G c.1090T>G p.S364A Missense 8/27 - 2
7-117180375-C-G c.1091C>G p.S364C Missense 8/27 - 3
7-117180375-C-T c.1091C>T p.S364F Missense 8/27 - 1
7-117180376-T-A c.1092T>A p.S364= Synonymous 8/27 - 1
7-117180376-T-C c.1092T>C p.S364= Synonymous 8/27 - 1
7-117180376-T-G c.1092T>G p.S364= Synonymous 8/27 - 1
7-117180372-ACT-A c.1093_1094del p.L365Wfs*16 Frameshift 8/27 - 1
7-117180378-T-C c.1094T>C p.L365P Missense 8/27 - 4
7-117180379-T-A c.1095T>A p.L365= Synonymous 8/27 - 2
7-117180379-T-C c.1095T>C p.L365= Synonymous 8/27 - 2
7-117180379-T-G c.1095T>G p.L365= Synonymous 8/27 - 2
7-117180380-GGA-TGT c.1096_1098delinsTGT p.G366C Missense 8/27 - 1
7-117180382-A-G c.1098A>G p.G366= Synonymous 8/27 - 1
7-117180383-G-A c.1099G>A p.A367T Missense 8/27 - 4
7-117180383-GCA-TGT c.1099_1101delinsTGT p.A367C Missense 8/27 - 1
7-117180383-G-T c.1099G>T p.A367S Missense 8/27 - 1
7-117180388-A-C c.1104A>C p.I368= Synonymous 8/27 - 1
7-117180389-A-T c.1105A>T p.N369Y Missense 8/27 - 1
7-117180390-A-G c.1106A>G p.N369S Missense 8/27 - 1
7-117180391-C-T c.1107C>T p.N369= Synonymous 8/27 - 1
7-117180392-AAA-TGT c.1108_1110delinsTGT p.K370C Missense 8/27 - 2
7-117180392-A-C c.1108A>C p.K370Q Missense 8/27 - 2
7-117180392-A-G c.1108A>G p.K370E Missense 8/27 - 3
7-117180392-A-T c.1108A>T p.K370* Nonsense 8/27 - 1
7-117180395-ATA-TGT c.1111_1113delinsTGT p.I371C Missense 8/27 - 1
7-117180395-AT-GC c.1111_1112delinsGC p.I371A Missense 8/27 - 1
7-117180394-AAT-A c.1112_1113del p.I371Tfs*10 Frameshift 8/27 - 1
7-117180396-T-C c.1112T>C p.I371T Missense 8/27 - 3
7-117180397-A-G c.1113A>G p.I371M Missense 8/27 - 1
7-117180398-C-T c.1114C>T p.Q372* Nonsense 8/27 - 3
7-117180399-CA-C c.1115del p.Q372Rfs*16 Frameshift 8/27 - 1
7-117180400-G-A c.1116G>A p.Q372= Synonymous 8/27 - 2
7-117180400-G-T c.1116G>T p.Q372H Missense 8/27 - 1
7-117180401-G-A c.1116+1G>A - IntronicSNV - 8/26 17
7-117180401-G-C c.1116+1G>C - IntronicSNV - 8/26 1
7-117180401-G-T c.1116+1G>T - IntronicSNV - 8/26 2
7-117180402-T-A c.1116+2T>A - IntronicSNV - 8/26 1
7-117180992-C-T c.1116+592C>T - IntronicSNV - 8/26 1
7-117181012-C-T c.1116+612C>T - IntronicSNV - 8/26 1
7-117181152-A-G c.1116+752A>G - IntronicSNV - 8/26 3
7-117181346-G-A c.1117-724G>A - IntronicSNV - 8/26 1
7-117181509-G-A c.1117-561G>A - IntronicSNV - 8/26 1
7-117181509-G-T c.1117-561G>T - IntronicSNV - 8/26 1
7-117182069-G-A c.1117-1G>A - IntronicSNV - 8/26 1
7-117182070-G-A c.1117G>A p.D373N Missense 9/27 - 9
7-117182070-GA-TG c.1117_1118delinsTG p.D373C Missense 9/27 - 1
7-117182070-GAT-TAA c.1117_1119delinsTAA p.D373* Nonsense 9/27 - 1
7-117182070-G-T c.1117G>T p.D373Y Missense 9/27 - 3
7-117182071-A-T c.1118A>T p.D373V Missense 9/27 - 2
7-117182072-T-A c.1119T>A p.D373E Missense 9/27 - 1
7-117182072-T-G c.1119T>G p.D373E Missense 9/27 - 1
7-117182073-T-C c.1120T>C p.F374L Missense 9/27 - 2
7-117182073-TT-GC c.1120_1121delinsGC p.F374A Missense 9/27 - 1
7-117182075-C-A c.1122C>A p.F374L Missense 9/27 - 2
7-117182075-C-G c.1122C>G p.F374L Missense 9/27 - 2
7-117182076-T-C c.1123T>C p.L375= Synonymous 9/27 - 1
7-117182076-T-G c.1123T>G p.L375V Missense 9/27 - 1
7-117182076-TT-CC c.1123_1124delinsCC p.L375P Missense 9/27 - 1
7-117182076-TT-GC c.1123_1124delinsGC p.L375A Missense 9/27 - 1
7-117182078-A-G c.1125A>G p.L375= Synonymous 9/27 - 1
7-117182077-T-G c.1124T>G p.L375* Nonsense 9/27 - 2
7-117182078-A-C c.1125A>C p.L375F Missense 9/27 - 8
7-117182078-A-T c.1125A>T p.L375F Missense 9/27 - 2
7-117182079-C-T c.1126C>T p.Q376* Nonsense 9/27 - 2
7-117182082-AA-GC c.1129_1130delinsGC p.K377A Missense 9/27 - 1
7-117182082-AAG-TGT c.1129_1131delinsTGT p.K377C Missense 9/27 - 1
7-117182079-C-CA c.1130dup p.Q378Afs*4 Frameshift 9/27 - 7
7-117182083-A-G c.1130A>G p.K377R Missense 9/27 - 1
7-117182084-G-A c.1131G>A p.K377= Synonymous 9/27 - 2
7-117182085-C-T c.1132C>T p.Q378* Nonsense 9/27 - 6
7-117182086-A-G c.1133A>G p.Q378R Missense 9/27 - 2
7-117182087-A-C c.1134A>C p.Q378H Missense 9/27 - 1
7-117182087-A-T c.1134A>T p.Q378H Missense 9/27 - 1
7-117182088-G-A c.1135G>A p.E379K Missense 9/27 - 1
7-117182088-G-C c.1135G>C p.E379Q Missense 9/27 - 1
7-117182088-G-T c.1135G>T p.E379* Nonsense 9/27 - 7
7-117182089-A-T c.1136A>T p.E379V Missense 9/27 - 2
7-117182088-GA-G c.1137del p.E379Dfs*9 Frameshift 9/27 - 1
7-117182090-A-C c.1137A>C p.E379D Missense 9/27 - 1
7-117182092-A-G c.1139A>G p.Y380C Missense 9/27 - 3
7-117182093-T-A c.1140T>A p.Y380* Nonsense 9/27 - 2
7-117182094-AA-CT c.1141_1142delinsCT p.K381L Missense 9/27 - 1
7-117182094-A-T c.1141A>T p.K381* Nonsense 9/27 - 2
7-117182095-A-T c.1142A>T p.K381M Missense 9/27 - 1
7-117182097-A-C c.1144A>C p.T382P Missense 9/27 - 1
7-117182097-A-T c.1144A>T p.T382S Missense 9/27 - 1
7-117182098-C-T c.1145C>T p.T382I Missense 9/27 - 3
7-117182099-A-G c.1146A>G p.T382= Synonymous 9/27 - 1
7-117182103-G-A c.1150G>A p.E384K Missense 9/27 - 1
7-117182103-G-T c.1150G>T p.E384* Nonsense 9/27 - 1
7-117182104-A-G c.1151A>G p.E384G Missense 9/27 - 1
7-117182107-A-AT c.1155dup p.N386* Nonsense 9/27 - 1
7-117182108-T-A c.1155T>A p.Y385* Nonsense 9/27 - 3
7-117182110-A-C c.1157A>C p.N386T Missense 9/27 - 1
7-117182111-C-A c.1158C>A p.N386K Missense 9/27 - 3
7-117182111-C-G c.1158C>G p.N386K Missense 9/27 - 4
7-117182111-C-T c.1158C>T p.N386= Synonymous 9/27 - 1
7-117182112-CTT-C c.1159_1160del p.L387Nfs*23 Frameshift 9/27 - 2
7-117182113-T-C c.1160T>C p.L387S Missense 9/27 - 2
7-117182114-A-C c.1161A>C p.L387F Missense 9/27 - 1
7-117182114-A-T c.1161A>T p.L387F Missense 9/27 - 1
7-117182116-C-A c.1163C>A p.T388K Missense 9/27 - 2
7-117182116-CG-TC c.1163_1164delinsTC p.T388I Missense 9/27 - 1
7-117182116-C-T c.1163C>T p.T388M Missense 9/27 - 8
7-117182117-G-A c.1164G>A p.T388= Synonymous 9/27 - 6
7-117182117-G-T c.1164G>T p.T388= Synonymous 9/27 - 3
7-117182118-A-T c.1165A>T p.T389S Missense 9/27 - 3
7-117182119-C-G c.1166C>G p.T389S Missense 9/27 - 1
7-117182119-C-T c.1166C>T p.T389I Missense 9/27 - 1
7-117182120-T-A c.1167T>A p.T389= Synonymous 9/27 - 1
7-117182120-T-C c.1167T>C p.T389= Synonymous 9/27 - 1
7-117182120-T-G c.1167T>G p.T389= Synonymous 9/27 - 1
7-117182121-A-C c.1168A>C p.T390P Missense 9/27 - 1
7-117182121-A-G c.1168A>G p.T390A Missense 9/27 - 3
7-117182122-C-T c.1169C>T p.T390I Missense 9/27 - 2
7-117182123-A-C c.1170A>C p.T390= Synonymous 9/27 - 1
7-117182124-G-A c.1171G>A p.E391K Missense 9/27 - 1
7-117182127-G-A c.1174G>A p.V392I Missense 9/27 - 1
7-117182128-T-A c.1175T>A p.V392E Missense 9/27 - 1
7-117182128-T-G c.1175T>G p.V392G Missense 9/27 - 4
7-117182129-A-G c.1176A>G p.V392= Synonymous 9/27 - 1
7-117182131-T-G c.1178T>G p.V393G Missense 9/27 - 1
7-117182134-T-C c.1181T>C p.M394T Missense 9/27 - 1
7-117182134-T-G c.1181T>G p.M394R Missense 9/27 - 2
7-117182135-G-A c.1182G>A p.M394I Missense 9/27 - 2
7-117182135-G-T c.1182G>T p.M394I Missense 9/27 - 1
7-117182136-G-A c.1183G>A p.E395K Missense 9/27 - 2
7-117182136-G-C c.1183G>C p.E395Q Missense 9/27 - 1
7-117182137-A-G c.1184A>G p.E395G Missense 9/27 - 1
7-117182138-G-A c.1185G>A p.E395= Synonymous 9/27 - 1
7-117182138-G-GAAT c.1186_1188dup p.N396dup InFrameInsertion 9/27 - 1
7-117182139-A-T c.1186A>T p.N396Y Missense 9/27 - 3
7-117182140-A-C c.1187A>C p.N396T Missense 9/27 - 1
7-117182141-T-TG c.1189dup p.V397Gfs*14 Frameshift 9/27 - 1
7-117182143-T-G c.1190T>G p.V397G Missense 9/27 - 1
7-117182144-A-G c.1191A>G p.V397= Synonymous 9/27 - 1
7-117182148-G-A c.1195G>A p.A399T Missense 9/27 - 3
7-117182148-G-T c.1195G>T p.A399S Missense 9/27 - 1
7-117182149-C-A c.1196C>A p.A399D Missense 9/27 - 3
7-117182149-C-G c.1196C>G p.A399G Missense 9/27 - 1
7-117182149-C-T c.1196C>T p.A399V Missense 9/27 - 4
7-117182148-GC-G c.1197del p.F400Sfs*42 Frameshift 9/27 - 1
7-117182150-C-T c.1197C>T p.A399= Synonymous 9/27 - 2
7-117182151-TT-GC c.1198_1199delinsGC p.F400A Missense 9/27 - 1
7-117182152-T-C c.1199T>C p.F400S Missense 9/27 - 1
7-117182153-C-T c.1200C>T p.F400= Synonymous 9/27 - 2
7-117182154-T-G c.1201T>G p.W401G Missense 9/27 - 11
7-117182154-TG-AT c.1201_1202delinsAT p.W401M Missense 9/27 - 1
7-117182154-TGG-ATC c.1201_1203delinsATC p.W401I Missense 9/27 - 2
7-117182154-TG-GC c.1201_1202delinsGC p.W401A Missense 9/27 - 1
7-117182155-G-A c.1202G>A p.W401* Nonsense 9/27 - 12
7-117182155-G-C c.1202G>C p.W401S Missense 9/27 - 1
7-117182155-GG-AT c.1202_1203delinsAT p.W401Y Missense 9/27 - 2
7-117182155-GG-TT c.1202_1203delinsTT p.W401F Missense 9/27 - 7
7-117182155-G-T c.1202G>T p.W401L Missense 9/27 - 1
7-117182156-G-A c.1203G>A p.W401* Nonsense 9/27 - 13
7-117182156-G-C c.1203G>C p.W401C Missense 9/27 - 4
7-117182156-G-T c.1203G>T p.W401C Missense 9/27 - 2
7-117182157-G-A c.1204G>A p.E402K Missense 9/27 - 1
7-117182157-GAG-TGT c.1204_1206delinsTGT p.E402C Missense 9/27 - 1
7-117182157-G-T c.1204G>T p.E402* Nonsense 9/27 - 3
7-117182159-G-A c.1206G>A p.E402= Synonymous 9/27 - 2
7-117182159-GG-AA c.1206_1207delinsAA p.E403K Missense 9/27 - 1
7-117182160-G-A c.1207G>A p.E403K Missense 9/27 - 5
7-117182161-A-C c.1208A>C p.E403A Missense 9/27 - 1
7-117182161-A-G c.1208A>G p.E403G Missense 9/27 - 1
7-117182162-G-A c.1209G>A p.E403= Synonymous 9/27 - 2
7-117182162-G-C c.1209G>C p.E403D Missense 9/27 - 3
7-117182162-G-T c.1209G>T p.E403D Missense 9/27 - 3
7-117182163-G-A c.1209+1G>A - IntronicSNV - 9/26 9
7-117182163-G-T c.1209+1G>T - IntronicSNV - 9/26 3
7-117182164-T-A c.1209+2T>A - IntronicSNV - 9/26 1
7-117182163-GTCAGAATTTTTAAAAAATTGTTTGCTCTAAACACCTAACTGTTTTCTTCT-G c.1209+3_1209+52del - IntronicDeletion - 9/26 1
7-117182245-T-G c.1209+83T>G - IntronicSNV - 9/26 1
7-117182587-C-T c.1209+425C>T - IntronicSNV - 9/26 1
7-117183138-G-T c.1209+976G>T - IntronicSNV - 9/26 1
7-117183268-A-T c.1209+1106A>T - IntronicSNV - 9/26 1
7-117184297-G-A c.1209+2135G>A - IntronicSNV - 9/26 1
7-117184516-G-A c.1209+2354G>A - IntronicSNV - 9/26 1
7-117184775-C-G c.1209+2613C>G - IntronicSNV - 9/26 1
7-117184775-C-T c.1209+2613C>T - IntronicSNV - 9/26 1
7-117184908-T-G c.1209+2746T>G - IntronicSNV - 9/26 1
7-117185071-T-C c.1209+2909T>C - IntronicSNV - 9/26 1
7-117185496-G-A c.1210-3199G>A - IntronicSNV - 9/26 1
7-117185705-A-G c.1210-2990A>G - IntronicSNV - 9/26 1
7-117185879-T-G c.1210-2816T>G - IntronicSNV - 9/26 1
7-117186695-G-A c.1210-2000G>A - IntronicSNV - 9/26 1
7-117187011-G-A c.1210-1684G>A - IntronicSNV - 9/26 1
7-117187461-T-C c.1210-1234T>C - IntronicSNV - 9/26 1
7-117187500-G-A c.1210-1195G>A - IntronicSNV - 9/26 1
7-117187659-T-A c.1210-1036T>A - IntronicSNV - 9/26 1
7-117187659-T-C c.1210-1036T>C - IntronicSNV - 9/26 1
7-117187822-G-A c.1210-873G>A - IntronicSNV - 9/26 1
7-117187822-G-T c.1210-873G>T - IntronicSNV - 9/26 1
7-117188681-T-TTG c.1210-14_1210-13insTG - IntronicInsertion - 9/26 1
7-117188682-G-T c.1210-13G>T - IntronicSNV - 9/26 4
7-117188684-T-G c.1210-11T>G - IntronicSNV - 9/26 5
7-117188689-T-A c.1210-6T>A - IntronicSNV - 9/26 1
7-117188694-G-C c.1210-1G>C - IntronicSNV - 9/26 1
7-117188695-G-A c.1210G>A p.G404R Missense 10/27 - 2
7-117188695-G-C c.1210G>C p.G404R Missense 10/27 - 1
7-117188693-AG-A c.1211del p.G404Dfs*38 Frameshift 10/27 - 2
7-117188696-G-A c.1211G>A p.G404E Missense 10/27 - 6
7-117188696-GA-AC c.1211_1212delinsAC p.G404D Missense 10/27 - 1
7-117188696-G-C c.1211G>C p.G404A Missense 10/27 - 1
7-117188696-GGATTTGGGGAATTATTTGAGAAAGCAAAACAAAACAATAACAATAGAAAAACTTCTAAT-G c.1212_1270del p.F405* SpliceAcceptorDeletion 10/27 - 1
7-117188696-G-T c.1211G>T p.G404V Missense 10/27 - 3
7-117188698-T-C c.1213T>C p.F405L Missense 10/27 - 1
7-117188700-T-A c.1215T>A p.F405L Missense 10/27 - 1
7-117188700-T-G c.1215T>G p.F405L Missense 10/27 - 1
7-117188702-G-A c.1217G>A p.G406E Missense 10/27 - 1
7-117188702-G-C c.1217G>C p.G406A Missense 10/27 - 1
7-117188703-G-A c.1218G>A p.G406= Synonymous 10/27 - 1
7-117188700-TG-T c.1219del p.E407Nfs*35 Frameshift 10/27 - 1
7-117188704-G-A c.1219G>A p.E407K Missense 10/27 - 7
7-117188704-GAA-TGT c.1219_1221delinsTGT p.E407C Missense 10/27 - 1
7-117188704-G-T c.1219G>T p.E407* Nonsense 10/27 - 3
7-117188705-A-T c.1220A>T p.E407V Missense 10/27 - 1
7-117188704-GA-G c.1221del p.E407Dfs*35 Frameshift 10/27 - 1
7-117188706-A-G c.1221A>G p.E407= Synonymous 10/27 - 1
7-117188708-TA-GT c.1223_1224delinsGT p.L408C Missense 10/27 - 1
7-117188710-T-A c.1225T>A p.F409I Missense 10/27 - 1
7-117188710-T-C c.1225T>C p.F409L Missense 10/27 - 6
7-117188710-TTT-CAA c.1225_1227delinsCAA p.F409Q Missense 10/27 - 1
7-117188712-T-A c.1227T>A p.F409L Missense 10/27 - 5
7-117188712-T-G c.1227T>G p.F409L Missense 10/27 - 5
7-117188712-T-C c.1227T>C p.F409= Synonymous 10/27 - 2
7-117188713-G-C c.1228G>C p.E410Q Missense 10/27 - 1
7-117188714-A-T c.1229A>T p.E410V Missense 10/27 - 1
7-117188716-A-G c.1231A>G p.K411E Missense 10/27 - 7
7-117188717-A-G c.1232A>G p.K411R Missense 10/27 - 1
7-117188718-A-G c.1233A>G p.K411= Synonymous 10/27 - 1
7-117188715-GAAAGC-G c.1234_1238del p.A412Tfs*4 Frameshift 10/27 - 4
7-117188719-G-T c.1234G>T p.A412S Missense 10/27 - 1
7-117188720-GC-G c.1235del p.A412Efs*30 Frameshift 10/27 - 1
7-117188720-C-CAGAT c.1236_1237insGATA p.K413Dfs*6 Frameshift 10/27 - 1
7-117188721-A-AT c.1236_1237insT p.K413* Nonsense 10/27 - 1
7-117188722-A-T c.1237A>T p.K413* Nonsense 10/27 - 1
7-117188721-AAAAC-A c.1240_1243del p.Q414Tfs*27 Frameshift 10/27 - 1
7-117188723-AAC-A c.1240_1241del p.Q414Kfs*3 Frameshift 10/27 - 1
7-117188725-C-A c.1240C>A p.Q414K Missense 10/27 - 2
7-117188725-C-T c.1240C>T p.Q414* Nonsense 10/27 - 5
7-117188726-A-C c.1241A>C p.Q414P Missense 10/27 - 5
7-117188719-GCAAAA-G c.1243_1247del p.N415* Frameshift 10/27 - 3
7-117188725-CAA-C c.1243_1244del p.N415Qfs*2 Frameshift 10/27 - 1
7-117188731-A-G c.1246A>G p.N416D Missense 10/27 - 1
7-117188727-A-AAACAAAC c.1247_1248insACAACAA p.N416Kfs*4 Frameshift 10/27 - 1
7-117188732-A-G c.1247A>G p.N416S Missense 10/27 - 2
7-117188733-T-C c.1248T>C p.N416= Synonymous 10/27 - 1
7-117188735-A-C c.1250A>C p.N417T Missense 10/27 - 2
7-117188736-C-A c.1251C>A p.N417K Missense 10/27 - 37
7-117188736-C-G c.1251C>G p.N417K Missense 10/27 - 5
7-117188736-C-T c.1251C>T p.N417= Synonymous 10/27 - 2
7-117188737-A-G c.1252A>G p.N418D Missense 10/27 - 1
7-117188738-A-G c.1253A>G p.N418S Missense 10/27 - 2
7-117188739-T-C c.1254T>C p.N418= Synonymous 10/27 - 5
7-117188741-G-C c.1256G>C p.R419T Missense 10/27 - 1
7-117188741-G-T c.1256G>T p.R419I Missense 10/27 - 3
7-117188746-A-G c.1261A>G p.T421A Missense 10/27 - 2
7-117188747-C-A c.1262C>A p.T421N Missense 10/27 - 1
7-117188747-C-T c.1262C>T p.T421I Missense 10/27 - 1
7-117188749-T-C c.1264T>C p.S422P Missense 10/27 - 6
7-117188749-TC-GA c.1264_1265inv p.S422D Missense 10/27 - 6
7-117188749-T-G c.1264T>G p.S422A Missense 10/27 - 5
7-117188750-C-A c.1265C>A p.S422Y Missense 10/27 - 2
7-117188750-C-T c.1265C>T p.S422F Missense 10/27 - 39
7-117188751-T-A c.1266T>A p.S422= Synonymous 10/27 - 1
7-117188750-CTAA-C c.1267_1269del p.N423del InFrameDeletion 10/27 - 1
7-117188752-A-C c.1267A>C p.N423H Missense 10/27 - 1
7-117188754-T-A c.1269T>A p.N423K Missense 10/27 - 1
7-117188754-T-C c.1269T>C p.N423= Synonymous 10/27 - 1
7-117188755-G-A c.1270G>A p.G424S Missense 10/27 - 2
7-117188756-G-C c.1271G>C p.G424A Missense 10/27 - 1
7-117188759-A-G c.1274A>G p.D425G Missense 10/27 - 1
7-117188763-AC-A c.1278del p.D426Efs*16 Frameshift 10/27 - 1
7-117188763-C-A c.1278C>A p.D426E Missense 10/27 - 1
7-117188763-C-T c.1278C>T p.D426= Synonymous 10/27 - 4
7-117188764-AG-CT c.1279_1280inv p.S427L Missense 10/27 - 7
7-117188765-G-C c.1280G>C p.S427T Missense 10/27 - 2
7-117188767-C-A c.1282C>A p.L428I Missense 10/27 - 1
7-117188767-C-G c.1282C>G p.L428V Missense 10/27 - 1
7-117188770-TT-AA c.1285_1286inv p.F429N Missense 10/27 - 1
7-117188771-T-C c.1286T>C p.F429S Missense 10/27 - 22
7-117188772-C-A c.1287C>A p.F429L Missense 10/27 - 1
7-117188772-C-T c.1287C>T p.F429= Synonymous 10/27 - 1
7-117188767-CTCT-C c.1288_1290del p.F430del InFrameDeletion 10/27 - 1
7-117188773-T-C c.1288T>C p.F430L Missense 10/27 - 1
7-117188773-T-G c.1288T>G p.F430V Missense 10/27 - 1
7-117188773-TT-GG c.1288_1289delinsGG p.F430G Missense 10/27 - 1
7-117188775-C-A c.1290C>A p.F430L Missense 10/27 - 1
7-117188775-C-G c.1290C>G p.F430L Missense 10/27 - 1
7-117188775-C-T c.1290C>T p.F430= Synonymous 10/27 - 3
7-117188776-A-G c.1291A>G p.S431G Missense 10/27 - 3
7-117188776-AG-CT c.1291_1292inv p.S431L Missense 10/27 - 1
7-117188781-T-C c.1296T>C p.N432= Synonymous 10/27 - 1
7-117188782-T-A c.1297T>A p.F433I Missense 10/27 - 1
7-117188782-T-C c.1297T>C p.F433L Missense 10/27 - 3
7-117188784-C-G c.1299C>G p.F433L Missense 10/27 - 3
7-117188784-C-A c.1299C>A p.F433L Missense 10/27 - 8
7-117188784-C-T c.1299C>T p.F433= Synonymous 10/27 - 4
7-117188785-T-A c.1300T>A p.S434T Missense 10/27 - 1
7-117188785-T-C c.1300T>C p.S434P Missense 10/27 - 2
7-117188781-TTTCTCAC-T c.1301_1307del p.S434Lfs*6 Frameshift 10/27 - 1
7-117188786-C-A c.1301C>A p.S434* Nonsense 10/27 - 4
7-117188786-CA-GG c.1301_1302delinsGG p.S434W Missense 10/27 - 1
7-117188786-CA-GT c.1301_1302delinsGT p.S434C Missense 10/27 - 1
7-117188786-CA-TT c.1301_1302delinsTT p.S434F Missense 10/27 - 1
7-117188786-C-G c.1301C>G p.S434* Nonsense 10/27 - 3
7-117188786-C-T c.1301C>T p.S434L Missense 10/27 - 3
7-117188788-C-G c.1303C>G p.L435V Missense 10/27 - 1
7-117188788-C-T c.1303C>T p.L435F Missense 10/27 - 2
7-117188789-T-C c.1304T>C p.L435P Missense 10/27 - 1
7-117188790-T-C c.1305T>C p.L435= Synonymous 10/27 - 1
7-117188791-C-T c.1306C>T p.L436F Missense 10/27 - 1
7-117188794-G-T c.1309G>T p.G437C Missense 10/27 - 1
7-117188795-G-A c.1310G>A p.G437D Missense 10/27 - 3
7-117188795-G-C c.1310G>C p.G437A Missense 10/27 - 1
7-117188797-A-G c.1312A>G p.T438A Missense 10/27 - 26
7-117188799-T-A c.1314T>A p.T438= Synonymous 10/27 - 1
7-117188799-T-C c.1314T>C p.T438= Synonymous 10/27 - 1
7-117188799-T-G c.1314T>G p.T438= Synonymous 10/27 - 1
7-117188800-C-A c.1315C>A p.P439T Missense 10/27 - 2
7-117188800-C-G c.1315C>G p.P439A Missense 10/27 - 1
7-117188800-C-T c.1315C>T p.P439S Missense 10/27 - 4
7-117188801-C-T c.1316C>T p.P439L Missense 10/27 - 1
7-117188802-CT-C c.1317del p.V440Sfs*2 Frameshift 10/27 - 1
7-117188803-GTC-ATG c.1318_1320delinsATG p.V440M Missense 10/27 - 2
7-117188804-T-C c.1319T>C p.V440A Missense 10/27 - 2
7-117188807-T-C c.1322T>C p.L441P Missense 10/27 - 13
7-117188809-A-C c.1324A>C p.K442Q Missense 10/27 - 1
7-117188809-A-T c.1324A>T p.K442* Nonsense 10/27 - 2
7-117188810-A-AAGAT c.1327_1330dup p.I444Rfs*3 Frameshift 10/27 - 2
7-117188812-G-T c.1327G>T p.D443Y Missense 10/27 - 29
7-117188807-TGAAAGATATTAATTTCAAGATA-T c.1329_1350del p.D443Efs*19 Frameshift 10/27 - 1
7-117188814-T-A c.1329T>A p.D443E Missense 10/27 - 1
7-117188814-T-G c.1329T>G p.D443E Missense 10/27 - 2
7-117188812-GAT-G c.1330_1331del p.I444* Frameshift 10/27 - 2
7-117188815-A-G c.1330A>G p.I444V Missense 10/27 - 2
7-117188815-A-T c.1330A>T p.I444F Missense 10/27 - 2
7-117188816-ATTAATTT-A c.1331_1337del p.I444Tfs*3 Frameshift 10/27 - 1
7-117188816-T-C c.1331T>C p.I444T Missense 10/27 - 4
7-117188816-T-G c.1331T>G p.I444S Missense 10/27 - 2
7-117188815-A-AT c.1332dup p.N445* Nonsense 10/27 - 1
7-117188814-TATTA-T c.1333_1336del p.N445Sfs*3 Frameshift 10/27 - 1
7-117188820-T-C c.1335T>C p.N445= Synonymous 10/27 - 1
7-117188823-C-A c.1338C>A p.F446L Missense 10/27 - 1
7-117188823-CA-C c.1340del p.K447Rfs*2 Frameshift 10/27 - 7
7-117188825-A-C c.1340A>C p.K447T Missense 10/27 - 1
7-117188825-A-G c.1340A>G p.K447R Missense 10/27 - 3
7-117188827-A-C c.1342A>C p.I448L Missense 10/27 - 1
7-117188828-T-C c.1343T>C p.I448T Missense 10/27 - 3
7-117188828-T-G c.1343T>G p.I448R Missense 10/27 - 1
7-117188830-G-C c.1345G>C p.E449Q Missense 10/27 - 8
7-117188831-A-G c.1346A>G p.E449G Missense 10/27 - 2
7-117188828-TAGAA-T c.1347_1350del p.R450Dfs*18 Frameshift 10/27 - 1
7-117188831-A-AAGAC c.1347_1348insGACA p.R450Dfs*33 Frameshift 10/27 - 1
7-117188833-AGA-CAT c.1348_1350delinsCAT p.R450H Missense 10/27 - 1
7-117188833-AGA-TGT c.1348_1350delinsTGT p.R450C Missense 10/27 - 2
7-117188836-G-A c.1351G>A p.G451R Missense 10/27 - 5
7-117188836-G-C c.1351G>C p.G451R Missense 10/27 - 2
7-117188836-GG-AA c.1351_1352delinsAA p.G451K Missense 10/27 - 1
7-117188837-GA-AC c.1352_1353delinsAC p.G451D Missense 10/27 - 1
7-117188837-G-T c.1352G>T p.G451V Missense 10/27 - 4
7-117188838-A-G c.1353A>G p.G451= Synonymous 10/27 - 1
7-117188839-C-T c.1354C>T p.Q452* Nonsense 10/27 - 1
7-117188840-A-C c.1355A>C p.Q452P Missense 10/27 - 2
7-117188840-A-G c.1355A>G p.Q452R Missense 10/27 - 2
7-117188841-G-A c.1356G>A p.Q452= Synonymous 10/27 - 3
7-117188843-T-C c.1358T>C p.L453S Missense 10/27 - 3
7-117188844-G-A c.1359G>A p.L453= Synonymous 10/27 - 1
7-117188840-AGTT-A c.1360_1362del p.L454del InFrameDeletion 10/27 - 17
7-117188848-G-T c.1363G>T p.A455S Missense 10/27 - 1
7-117188849-C-A c.1364C>A p.A455E Missense 10/27 - 195
7-117188849-C-G c.1364C>G p.A455G Missense 10/27 - 1
7-117188849-C-T c.1364C>T p.A455V Missense 10/27 - 8
7-117188850-CGG-C c.1365_1366del p.V456Cfs*25 Frameshift 10/27 - 1
7-117188850-G-A c.1365G>A p.A455A UnclassifiedSNV 10/27 - 16
7-117188850-G-C c.1365G>C p.A455= Synonymous 10/27 - 7
7-117188850-G-T c.1365G>T p.A455= Synonymous 10/27 - 17
7-117188851-G-A c.1366G>A p.V456I Missense 10/27 - 1
7-117188851-G-T c.1366G>T p.V456F Missense 10/27 - 7
7-117188852-T-C c.1367T>C p.V456A Missense 10/27 - 24
7-117188851-GT-G c.1368del p.A457Lfs*12 Frameshift 10/27 - 1
7-117188854-G-C c.1369G>C p.A457P Missense 10/27 - 5
7-117188857-G-A c.1372G>A p.G458R Missense 10/27 - 2
7-117188857-G-C c.1372G>C p.G458R Missense 10/27 - 2
7-117188856-TG-T c.1373del p.G458Dfs*11 Frameshift 10/27 - 2
7-117188858-G-A c.1373G>A p.G458E Missense 10/27 - 3
7-117188858-GA-AC c.1373_1374delinsAC p.G458D Missense 10/27 - 2
7-117188858-G-T c.1373G>T p.G458V Missense 10/27 - 10
7-117188859-A-C c.1374A>C p.G458= Synonymous 10/27 - 1
7-117188854-GCTGGATCCA-G c.1375_1383del p.S459_G461del InFrameDeletion 10/27 - 3
7-117188860-T-A c.1375T>A p.S459T Missense 10/27 - 1
7-117188860-TC-CG c.1375_1376delinsCG p.S459R Missense 10/27 - 1
7-117188861-C-G c.1376C>G p.S459C Missense 10/27 - 1
7-117188861-C-T c.1376C>T p.S459F Missense 10/27 - 5
7-117188862-C-A c.1377C>A p.S459= Synonymous 10/27 - 1
7-117188862-C-T c.1377C>T p.S459= Synonymous 10/27 - 1
7-117188863-A-C c.1378A>C p.T460P Missense 10/27 - 1
7-117188863-A-G c.1378A>G p.T460A Missense 10/27 - 3
7-117188863-A-T c.1378A>T p.T460S Missense 10/27 - 2
7-117188864-C-G c.1379C>G p.T460S Missense 10/27 - 2
7-117188866-G-A c.1381G>A p.G461R Missense 10/27 - 2
7-117188866-G-C c.1381G>C p.G461R Missense 10/27 - 1
7-117188865-TGGA-T c.1382_1384del p.G461del InFrameDeletion 10/27 - 1
7-117188867-G-A c.1382G>A p.G461E Missense 10/27 - 3
7-117188867-GA-AC c.1382_1383delinsAC p.G461D Missense 10/27 - 1
7-117188869-GCA-TGT c.1384_1386delinsTGT p.A462C Missense 10/27 - 2
7-117188869-GCA-TTT c.1384_1386delinsTTT p.A462F Missense 10/27 - 4
7-117188870-C-T c.1385C>T p.A462V Missense 10/27 - 3
7-117188872-G-A c.1387G>A p.G463S Missense 10/27 - 1
7-117188872-G-T c.1387G>T p.G463C Missense 10/27 - 1
7-117188873-G-A c.1388G>A p.G463D Missense 10/27 - 3
7-117188873-G-C c.1388G>C p.G463A Missense 10/27 - 1
7-117188873-GC-AG c.1388_1389delinsAG p.G463E Missense 10/27 - 1
7-117188873-G-T c.1388G>T p.G463V Missense 10/27 - 2
7-117188874-C-CT c.1389_1390insT p.K464* Nonsense 10/27 - 1
7-117188875-AA-GC c.1390_1391delinsGC p.K464A Missense 10/27 - 26
7-117188875-A-C c.1390A>C p.K464Q Missense 10/27 - 4
7-117188875-A-G c.1390A>G p.K464E Missense 10/27 - 2
7-117188875-A-T c.1390A>T p.K464* Nonsense 10/27 - 9
7-117188876-A-C c.1391A>C p.K464T Missense 10/27 - 1
7-117188876-A-G c.1391A>G p.K464R Missense 10/27 - 2
7-117188877-G-A c.1392G>A p.K464= Synonymous 10/27 - 1
7-117188877-G-C c.1392G>C p.K464N Missense 10/27 - 10
7-117188877-G-T c.1392G>T p.K464N Missense 10/27 - 18
7-117188878-G-A c.1392+1G>A - IntronicSNV - 10/26 2
7-117188878-G-T c.1392+1G>T - IntronicSNV - 10/26 1
7-117188881-G-A c.1392+4G>A - IntronicSNV - 10/26 1
7-117188883-T-A c.1392+6T>A - IntronicSNV - 10/26 1
7-117188889-G-A c.1392+12G>A - IntronicSNV - 10/26 1
7-117188918-G-A c.1392+41G>A - IntronicSNV - 10/26 1
7-117188928-CT-C c.1392+60del - IntronicDeletion - 10/26 1
7-117189029-G-A c.1392+152G>A - IntronicSNV - 10/26 1
7-117189032-C-T c.1392+155C>T - IntronicSNV - 10/26 1
7-117189042-T-C c.1392+165T>C - IntronicSNV - 10/26 1
7-117189254-G-A c.1392+377G>A - IntronicSNV - 10/26 1
7-117189254-G-T c.1392+377G>T - IntronicSNV - 10/26 1
7-117189272-G-A c.1392+395G>A - IntronicSNV - 10/26 2
7-117189272-G-C c.1392+395G>C - IntronicSNV - 10/26 2
7-117190066-C-T c.1392+1189C>T - IntronicSNV - 10/26 1
7-117190598-T-C c.1392+1721T>C - IntronicSNV - 10/26 1
7-117190703-C-T c.1392+1826C>T - IntronicSNV - 10/26 1
7-117190996-T-A c.1392+2119T>A - IntronicSNV - 10/26 2
7-117190996-T-G c.1392+2119T>G - IntronicSNV - 10/26 2
7-117191283-G-A c.1392+2406G>A - IntronicSNV - 10/26 1
7-117191461-T-A c.1392+2584T>A - IntronicSNV - 10/26 1
7-117191819-T-C c.1392+2942T>C - IntronicSNV - 10/26 1
7-117191861-C-T c.1392+2984C>T - IntronicSNV - 10/26 1
7-117192608-A-G c.1392+3731A>G - IntronicSNV - 10/26 2
7-117192760-A-C c.1392+3883A>C - IntronicSNV - 10/26 2
7-117192760-A-G c.1392+3883A>G - IntronicSNV - 10/26 2
7-117192760-A-T c.1392+3883A>T - IntronicSNV - 10/26 2
7-117193936-A-G c.1392+5059A>G - IntronicSNV - 10/26 1
7-117193993-C-A c.1392+5116C>A - IntronicSNV - 10/26 1
7-117194082-G-A c.1392+5205G>A - IntronicSNV - 10/26 1
7-117194470-G-A c.1393-5048G>A - IntronicSNV - 10/26 1
7-117194470-G-T c.1393-5048G>T - IntronicSNV - 10/26 1
7-117195478-A-G c.1393-4040A>G - IntronicSNV - 10/26 1
7-117195546-A-G c.1393-3972A>G - IntronicSNV - 10/26 1
7-117195557-T-C c.1393-3961T>C - IntronicSNV - 10/26 1
7-117195602-T-C c.1393-3916T>C - IntronicSNV - 10/26 1
7-117196266-G-A c.1393-3252G>A - IntronicSNV - 10/26 1
7-117196266-G-C c.1393-3252G>C - IntronicSNV - 10/26 1
7-117196368-C-T c.1393-3150C>T - IntronicSNV - 10/26 1
7-117196815-C-T c.1393-2703C>T - IntronicSNV - 10/26 1
7-117197029-A-C c.1393-2489A>C - IntronicSNV - 10/26 1
7-117197031-T-A c.1393-2487T>A - IntronicSNV - 10/26 1
7-117197651-C-T c.1393-1867C>T - IntronicSNV - 10/26 1
7-117198414-C-T c.1393-1104C>T - IntronicSNV - 10/26 1
7-117199457-A-G c.1393-61A>G - IntronicSNV - 10/26 10
7-117199476-G-A c.1393-42G>A - IntronicSNV - 10/26 1
7-117199476-G-T c.1393-42G>T - IntronicSNV - 10/26 1
7-117199516-A-G c.1393-2A>G - IntronicSNV - 10/26 3
7-117199517-G-A c.1393-1G>A - IntronicSNV - 10/26 6
7-117199517-G-C c.1393-1G>C - IntronicSNV - 10/26 6
7-117199519-C-A c.1394C>A p.T465N Missense 11/27 - 5
7-117199519-C-T c.1394C>T p.T465I Missense 11/27 - 3
7-117199521-T-A c.1396T>A p.S466T Missense 11/27 - 2
7-117199522-C-A c.1397C>A p.S466* Nonsense 11/27 - 28
7-117199522-CA-GG c.1397_1398delinsGG p.S466W Missense 11/27 - 1
7-117199522-C-G c.1397C>G p.S466* Nonsense 11/27 - 52
7-117199522-C-T c.1397C>T p.S466L Missense 11/27 - 7
7-117199524-C-T c.1399C>T p.L467F Missense 11/27 - 37
7-117199525-T-C c.1400T>C p.L467P Missense 11/27 - 29
7-117199527-C-G c.1402C>G p.L468V Missense 11/27 - 3
7-117199527-C-T c.1402C>T p.L468= Synonymous 11/27 - 1
7-117199528-T-C c.1403T>C p.L468P Missense 11/27 - 1
7-117199530-A-G c.1405A>G p.M469V Missense 11/27 - 9
7-117199532-G-A c.1407G>A p.M469I Missense 11/27 - 10
7-117199532-G-C c.1407G>C p.M469I Missense 11/27 - 7
7-117199532-G-T c.1407G>T p.M469I Missense 11/27 - 13
7-117199533-G-A c.1408G>A p.V470M Missense 11/27 - 113
7-117199531-TGGTGATTATG-T c.1409_1418del p.V470Efs*54 Frameshift 11/27 - 1
7-117199534-T-A c.1409T>A p.V470E Missense 11/27 - 3
7-117199535-G-A c.1410G>A p.V470= Synonymous 11/27 - 9
7-117199535-G-C c.1410G>C p.V470= Synonymous 11/27 - 5
7-117199535-G-T c.1410G>T p.V470= Synonymous 11/27 - 5
7-117199536-A-G c.1411A>G p.I471V Missense 11/27 - 4
7-117199537-T-A c.1412T>A p.I471N Missense 11/27 - 1
7-117199538-T-A c.1413T>A p.I471= Synonymous 11/27 - 1
7-117199538-T-C c.1413T>C p.I471= Synonymous 11/27 - 1
7-117199538-T-G c.1413T>G p.I471M Missense 11/27 - 2
7-117199539-A-G c.1414A>G p.M472V Missense 11/27 - 1
7-117199539-A-AT c.1415dup p.M472Ifs*10 Frameshift 11/27 - 1
7-117199540-TG-T c.1418del p.G473Efs*54 Frameshift 11/27 - 14
7-117199543-G-A c.1418G>A p.G473E Missense 11/27 - 3
7-117199545-G-A c.1420G>A p.E474K Missense 11/27 - 8
7-117199545-GA-AG c.1420_1421delinsAG p.E474R Missense 11/27 - 1
7-117199545-GAA-TGT c.1420_1422delinsTGT p.E474C Missense 11/27 - 1
7-117199545-GAA-TTT c.1420_1422delinsTTT p.E474F Missense 11/27 - 1
7-117199545-G-C c.1420G>C p.E474Q Missense 11/27 - 5
7-117199546-A-C c.1421A>C p.E474A Missense 11/27 - 1
7-117199545-G-GA c.1422dup p.L475Tfs*7 Frameshift 11/27 - 1
7-117199547-A-C c.1422A>C p.E474D Missense 11/27 - 1
7-117199547-A-T c.1422A>T p.E474D Missense 11/27 - 1
7-117199548-AC-A c.1423del p.L475Wfs*52 Frameshift 11/27 - 1
7-117199548-C-A c.1423C>A p.L475M Missense 11/27 - 1
7-117199548-C-T c.1423C>T p.L475= Synonymous 11/27 - 2
7-117199548-CTG-TAT c.1423_1425delinsTAT p.L475Y Missense 11/27 - 2
7-117199550-G-A c.1425G>A p.L475= Synonymous 11/27 - 1
7-117199550-G-C c.1425G>C p.L475= Synonymous 11/27 - 1
7-117199550-G-T c.1425G>T p.L475= Synonymous 11/27 - 1
7-117199551-GAG-TGT c.1426_1428delinsTGT p.E476C Missense 11/27 - 1
7-117199553-G-A c.1428G>A p.E476= Synonymous 11/27 - 2
7-117199554-C-A c.1429C>A p.P477T Missense 11/27 - 2
7-117199554-C-G c.1429C>G p.P477A Missense 11/27 - 2
7-117199554-C-T c.1429C>T p.P477S Missense 11/27 - 3
7-117199557-T-C c.1432T>C p.S478P Missense 11/27 - 1
7-117199557-T-G c.1432T>G p.S478A Missense 11/27 - 1
7-117199558-C-A c.1433C>A p.S478* Nonsense 11/27 - 1
7-117199558-C-G c.1433C>G p.S478* Nonsense 11/27 - 1
7-117199560-G-T c.1435G>T p.E479* Nonsense 11/27 - 2
7-117199561-A-C c.1436A>C p.E479A Missense 11/27 - 1
7-117199561-A-G c.1436A>G p.E479G Missense 11/27 - 2
7-117199562-G-A c.1437G>A p.E479= Synonymous 11/27 - 2
7-117199562-G-C c.1437G>C p.E479D Missense 11/27 - 2
7-117199562-G-T c.1437G>T p.E479D Missense 11/27 - 2
7-117199563-G-A c.1438G>A p.G480S Missense 11/27 - 4
7-117199563-GGT-AAG c.1438_1440delinsAAG p.G480K Missense 11/27 - 1
7-117199563-G-T c.1438G>T p.G480C Missense 11/27 - 29
7-117199564-G-A c.1439G>A p.G480D Missense 11/27 - 2
7-117199565-T-C c.1440T>C p.G480= Synonymous 11/27 - 1
7-117199565-T-G c.1440T>G p.G480= Synonymous 11/27 - 1
7-117199566-A-G c.1441A>G p.K481E Missense 11/27 - 1
7-117199566-A-T c.1441A>T p.K481* Nonsense 11/27 - 1
7-117199573-A-C c.1448A>C p.K483T Missense 11/27 - 3
7-117199575-C-T c.1450C>T p.H484Y Missense 11/27 - 3
7-117199576-A-G c.1451A>G p.H484R Missense 11/27 - 1
7-117199577-C-T c.1452C>T p.H484= Synonymous 11/27 - 1
7-117199578-A-G c.1453A>G p.S485G Missense 11/27 - 4
7-117199578-A-T c.1453A>T p.S485C Missense 11/27 - 10
7-117199579-G-A c.1454G>A p.S485N Missense 11/27 - 1
7-117199579-G-C c.1454G>C p.S485T Missense 11/27 - 2
7-117199578-A-C c.1453A>C p.S485R Missense 11/27 - 1
7-117199580-T-A c.1455T>A p.S485R Missense 11/27 - 1
7-117199580-T-G c.1455T>G p.S485R Missense 11/27 - 1
7-117199581-G-A c.1456G>A p.G486R Missense 11/27 - 7
7-117199581-G-C c.1456G>C p.G486R Missense 11/27 - 6
7-117199581-GGA-TGT c.1456_1458delinsTGT p.G486C Missense 11/27 - 1
7-117199581-G-T c.1456G>T p.G486* Nonsense 11/27 - 2
7-117199583-A-C c.1458A>C p.G486= Synonymous 11/27 - 1
7-117199583-A-G c.1458A>G p.G486= Synonymous 11/27 - 1
7-117199583-A-T c.1458A>T p.G486= Synonymous 11/27 - 1
7-117199584-AG-GA c.1459_1460delinsGA p.R487E Missense 11/27 - 1
7-117199584-AG-GC c.1459_1460delinsGC p.R487A Missense 11/27 - 1
7-117199585-G-A c.1460G>A p.R487K Missense 11/27 - 3
7-117199585-G-T c.1460G>T p.R487I Missense 11/27 - 5
7-117199586-A-C c.1461A>C p.R487S Missense 11/27 - 1
7-117199586-A-T c.1461A>T p.R487S Missense 11/27 - 1
7-117199590-T-G c.1465T>G p.S489A Missense 11/27 - 1
7-117199591-C-A c.1466C>A p.S489* Nonsense 11/27 - 67
7-117199591-C-G c.1466C>G p.S489* Nonsense 11/27 - 46
7-117199591-C-T c.1466C>T p.S489L Missense 11/27 - 10
7-117199592-A-C c.1467A>C p.S489= Synonymous 11/27 - 1
7-117199592-A-G c.1467A>G p.S489= Synonymous 11/27 - 1
7-117199592-A-T c.1467A>T p.S489= Synonymous 11/27 - 1
7-117199593-T-C c.1468T>C p.F490L Missense 11/27 - 2
7-117199595-C-A c.1470C>A p.F490L Missense 11/27 - 2
7-117199595-C-G c.1470C>G p.F490L Missense 11/27 - 2
7-117199592-AT-A c.1469del p.F490Sfs*37 Frameshift 11/27 - 1
7-117199594-T-G c.1469T>G p.F490C Missense 11/27 - 2
7-117199595-C-T c.1470C>T p.F490= Synonymous 11/27 - 3
7-117199596-CT-C c.1471del p.C491Vfs*36 Frameshift 11/27 - 1
7-117199596-T-A c.1471T>A p.C491S Missense 11/27 - 3
7-117199596-TG-GC c.1471_1472delinsGC p.C491A Missense 11/27 - 1
7-117199596-TG-GT c.1471_1472delinsGT p.C491V Missense 11/27 - 1
7-117199597-G-C c.1472G>C p.C491S Missense 11/27 - 3
7-117199597-G-A c.1472G>A p.C491Y Missense 11/27 - 1
7-117199597-G-T c.1472G>T p.C491F Missense 11/27 - 3
7-117199598-T-A c.1473T>A p.C491* Nonsense 11/27 - 1
7-117199598-T-C c.1473T>C p.C491= Synonymous 11/27 - 1
7-117199599-T-C c.1474T>C p.S492P Missense 11/27 - 17
7-117199600-C-T c.1475C>T p.S492F Missense 11/27 - 54
7-117199602-C-A c.1477C>A p.Q493K Missense 11/27 - 1
7-117199602-C-T c.1477C>T p.Q493* Nonsense 11/27 - 48
7-117199602-TCA-T c.1477_1478del p.Q493Vfs*10 Frameshift 11/27 - 7
7-117199603-A-C c.1478A>C p.Q493P Missense 11/27 - 3
7-117199603-A-G c.1478A>G p.Q493R Missense 11/27 - 5
7-117199603-A-T c.1478A>T p.Q493L Missense 11/27 - 1
7-117199604-G-C c.1479G>C p.Q493H Missense 11/27 - 1
7-117199605-TT-AA c.1480_1481inv p.F494N Missense 11/27 - 34
7-117199605-TT-GG c.1480_1481delinsGG p.F494G Missense 11/27 - 1
7-117199608-T-C c.1483T>C p.S495P Missense 11/27 - 5
7-117199609-C-T c.1484C>T p.S495F Missense 11/27 - 9
7-117199610-C-A c.1485C>A p.S495= Synonymous 11/27 - 2
7-117199610-C-G c.1485C>G p.S495= Synonymous 11/27 - 2
7-117199610-C-T c.1485C>T p.S495= Synonymous 11/27 - 2
7-117199611-CT-C c.1486del p.W496Gfs*31 Frameshift 11/27 - 2
7-117199611-T-C c.1486T>C p.W496R Missense 11/27 - 1
7-117199611-TG-GT c.1486_1487delinsGT p.W496V Missense 11/27 - 2
7-117199612-G-A c.1487G>A p.W496* Nonsense 11/27 - 13
7-117199612-GG-TT c.1487_1488delinsTT p.W496F Missense 11/27 - 2
7-117199612-G-T c.1487G>T p.W496L Missense 11/27 - 2
7-117199613-G-A c.1488G>A p.W496* Nonsense 11/27 - 9
7-117199613-G-C c.1488G>C p.W496C Missense 11/27 - 3
7-117199613-G-T c.1488G>T p.W496C Missense 11/27 - 3
7-117199614-A-G c.1489A>G p.I497V Missense 11/27 - 1
7-117199617-A-G c.1492A>G p.M498V Missense 11/27 - 2
7-117199617-ATG-TGT c.1492_1494delinsTGT p.M498C Missense 11/27 - 2
7-117199618-T-C c.1493T>C p.M498T Missense 11/27 - 2
7-117199620-C-G c.1495C>G p.P499A Missense 11/27 - 4
7-117199620-C-T c.1495C>T p.P499S Missense 11/27 - 5
7-117199621-C-A c.1496C>A p.P499H Missense 11/27 - 1
7-117199621-C-T c.1496C>T p.P499L Missense 11/27 - 1
7-117199622-T-C c.1497T>C p.P499= Synonymous 11/27 - 1
7-117199623-G-A c.1498G>A p.G500S Missense 11/27 - 1
7-117199624-G-A c.1499G>A p.G500D Missense 11/27 - 4
7-117199624-G-C c.1499G>C p.G500A Missense 11/27 - 2
7-117199625-C-A c.1500C>A p.G500= Synonymous 11/27 - 5
7-117199625-C-G c.1500C>G p.G500= Synonymous 11/27 - 2
7-117199625-C-T c.1500C>T p.G500= Synonymous 11/27 - 3
7-117199626-A-C c.1501A>C p.T501P Missense 11/27 - 1
7-117199626-A-G c.1501A>G p.T501A Missense 11/27 - 3
7-117199627-C-A c.1502C>A p.T501N Missense 11/27 - 1
7-117199627-C-T c.1502C>T p.T501I Missense 11/27 - 1
7-117199629-A-G c.1504A>G p.I502V Missense 11/27 - 3
7-117199630-T-A c.1505T>A p.I502N Missense 11/27 - 4
7-117199630-T-C c.1505T>C p.I502T Missense 11/27 - 14
7-117199630-T-G c.1505T>G p.I502S Missense 11/27 - 6
7-117199632-AA-GC c.1507_1508delinsGC p.K503A Missense 11/27 - 1
7-117199632-A-C c.1507A>C p.K503Q Missense 11/27 - 1
7-117199633-A-G c.1508A>G p.K503R Missense 11/27 - 1
7-117199635-G-A c.1510G>A p.E504K Missense 11/27 - 1
7-117199635-G-C c.1510G>C p.E504Q Missense 11/27 - 1
7-117199635-G-T c.1510G>T p.E504* Nonsense 11/27 - 4
7-117199636-A-C c.1511A>C p.E504A Missense 11/27 - 1
7-117199635-GAAA-G c.1512_1514del p.E504_N505delinsD MultiAAMissense 11/27 - 1
7-117199638-A-C c.1513A>C p.N505H Missense 11/27 - 1
7-117199638-A-G c.1513A>G p.N505D Missense 11/27 - 1
7-117199635-GA-G c.1514del p.N505Ifs*22 Frameshift 11/27 - 1
7-117199639-A-T c.1514A>T p.N505I Missense 11/27 - 1
7-117199641-A-C c.1516A>C p.I506L Missense 11/27 - 6
7-117199641-A-G c.1516A>G p.I506V Missense 11/27 - 37
7-117199642-T-C c.1517T>C p.I506T Missense 11/27 - 11
7-117199642-T-G c.1517T>G p.I506S Missense 11/27 - 3
7-117199643-C-A c.1518C>A p.I506= Synonymous 11/27 - 4
7-117199643-C-G c.1518C>G p.I506M Missense 11/27 - 8
7-117199643-C-T c.1518C>T p.I506= Synonymous 11/27 - 4
7-117199640-TATC-T c.1519_1521del p.I507del InFrameDeletion 11/27 - 112
7-117199644-A-G c.1519A>G p.I507V Missense 11/27 - 28
7-117199644-A-T c.1519A>T p.I507F Missense 11/27 - 9
7-117199644-CATCTTT-C c.1519_1524del p.I507_F508del InFrameDeletion 11/27 - 1
7-117199645-T-A c.1520T>A p.I507N Missense 11/27 - 2
7-117199644-ATCT-A c.1521_1523del p.F508del InFrameDeletion 11/27 - 1646
7-117199646-C-A c.1521C>A p.I507= Synonymous 11/27 - 2
7-117199646-C-T c.1521C>T p.I507= Synonymous 11/27 - 3
7-117199647-CTTT-C c.1522_1524del p.F508del InFrameDeletion 11/27 - 676
7-117199647-T-A c.1522T>A p.F508I Missense 11/27 - 1
7-117199647-T-C c.1522T>C p.F508L Missense 11/27 - 5
7-117199647-T-G c.1522T>G p.F508V Missense 11/27 - 4
7-117199647-TT-AA c.1522_1523inv p.F508N Missense 11/27 - 2
7-117199647-TT-AC c.1522_1523delinsAC p.F508T Missense 11/27 - 1
7-117199647-TT-CA c.1522_1523delinsCA p.F508H Missense 11/27 - 3
7-117199647-TT-CC c.1522_1523delinsCC p.F508P Missense 11/27 - 2
7-117199647-TT-CG c.1522_1523delinsCG p.F508R Missense 11/27 - 8
7-117199647-TT-GA c.1522_1523delinsGA p.F508D Missense 11/27 - 11
7-117199647-TT-GC c.1522_1523delinsGC p.F508A Missense 11/27 - 10
7-117199647-TT-GG c.1522_1523delinsGG p.F508G Missense 11/27 - 4
7-117199647-TTT-AAG c.1522_1524delinsAAG p.F508K Missense 11/27 - 3
7-117199647-TTT-ATG c.1522_1524delinsATG p.F508M Missense 11/27 - 1
7-117199647-TTT-CAA c.1522_1524delinsCAA p.F508Q Missense 11/27 - 1
7-117199647-TTT-GAG c.1522_1524delinsGAG p.F508E Missense 11/27 - 2
7-117199649-T-A c.1524T>A p.F508L Missense 11/27 - 4
7-117199649-T-G c.1524T>G p.F508L Missense 11/27 - 4
7-117199645-TCTTTGGTGTTTC-T c.1523_1534del p.F508_S511del InFrameDeletion 11/27 - 1
7-117199648-T-A c.1523T>A p.F508Y Missense 11/27 - 4
7-117199648-T-C c.1523T>C p.F508S Missense 11/27 - 13
7-117199648-T-G c.1523T>G p.F508C Missense 11/27 - 67
7-117199648-TT-AA c.1523_1524inv p.F508* Nonsense 11/27 - 4
7-117199648-TT-GG c.1523_1524delinsGG p.F508W Missense 11/27 - 2
7-117199649-T-C c.1524T>C p.F508= Synonymous 11/27 - 5
7-117199650-G-C c.1525G>C p.G509R Missense 11/27 - 3
7-117199651-G-A c.1526G>A p.G509D Missense 11/27 - 2
7-117199651-G-C c.1526G>C p.G509A Missense 11/27 - 2
7-117199653-G-A c.1528G>A p.V510I Missense 11/27 - 2
7-117199653-GT-CG c.1528_1529delinsCG p.V510R Missense 11/27 - 1
7-117199653-GTT-ATG c.1528_1530delinsATG p.V510M Missense 11/27 - 1
7-117199653-GT-TG c.1528_1529delinsTG p.V510C Missense 11/27 - 8
7-117199653-TG-T c.1528del p.V510Ffs*17 Frameshift 11/27 - 1
7-117199654-T-A c.1529T>A p.V510D Missense 11/27 - 33
7-117199654-T-C c.1529T>C p.V510A Missense 11/27 - 17
7-117199654-TT-AG c.1529_1530delinsAG p.V510E Missense 11/27 - 1
7-117199653-GTT-G c.1530_1531del p.S511Lfs*2 Frameshift 11/27 - 1
7-117199656-TC-GA c.1531_1532inv p.S511D Missense 11/27 - 3
7-117199656-T-G c.1531T>G p.S511A Missense 11/27 - 3
7-117199655-TTCC-T c.1532_1534del p.S511del InFrameDeletion 11/27 - 1
7-117199657-CC-AA c.1532_1533delinsAA p.S511* Nonsense 11/27 - 1
7-117199657-C-T c.1532C>T p.S511F Missense 11/27 - 7
7-117199658-C-A c.1533C>A p.S511= Synonymous 11/27 - 1
7-117199659-TA-GC c.1534_1535delinsGC p.Y512A Missense 11/27 - 1
7-117199659-TAT-GAG c.1534_1536delinsGAG p.Y512E Missense 11/27 - 3
7-117199659-T-G c.1534T>G p.Y512D Missense 11/27 - 1
7-117199660-A-G c.1535A>G p.Y512C Missense 11/27 - 4
7-117199660-A-T c.1535A>T p.Y512F Missense 11/27 - 4
7-117199662-GA-TG c.1537_1538delinsTG p.D513C Missense 11/27 - 1
7-117199662-G-T c.1537G>T p.D513Y Missense 11/27 - 3
7-117199663-A-G c.1538A>G p.D513G Missense 11/27 - 9
7-117199665-G-A c.1540G>A p.E514K Missense 11/27 - 2
7-117199667-A-C c.1542A>C p.E514D Missense 11/27 - 1
7-117199667-A-T c.1542A>T p.E514D Missense 11/27 - 1
7-117199664-TGAATATAGATACA-T c.1543_1555del p.Y515Afs*8 Frameshift 11/27 - 2
7-117199668-T-A c.1543T>A p.Y515N Missense 11/27 - 3
7-117199668-T-C c.1543T>C p.Y515H Missense 11/27 - 4
7-117199669-TATA-T c.1544_1546del p.Y515_R516delins* MultiAAMissense 11/27 - 2
7-117199666-AAT-A c.1545_1546del p.Y515* Frameshift 11/27 - 32
7-117199670-T-A c.1545T>A p.Y515* Nonsense 11/27 - 3
7-117199670-T-C c.1545T>C p.Y515= Synonymous 11/27 - 1
7-117199670-T-G c.1545T>G p.Y515* Nonsense 11/27 - 3
7-117199671-A-G c.1546A>G p.R516G Missense 11/27 - 3
7-117199671-AGA-TGG c.1546_1548delinsTGG p.R516W Missense 11/27 - 1
7-117199668-TATAG-T c.1547_1550del p.R516Tfs*10 Frameshift 11/27 - 1
7-117199670-TAG-T c.1547_1548del p.R516Ifs*51 Frameshift 11/27 - 1
7-117199672-G-A c.1547G>A p.R516K Missense 11/27 - 12
7-117199672-G-C c.1547G>C p.R516T Missense 11/27 - 1
7-117199673-A-C c.1548A>C p.R516S Missense 11/27 - 1
7-117199673-A-T c.1548A>T p.R516S Missense 11/27 - 1
7-117199674-T-A c.1549T>A p.Y517N Missense 11/27 - 1
7-117199674-TA-AT c.1549_1550delinsAT p.Y517I Missense 11/27 - 2
7-117199674-T-C c.1549T>C p.Y517H Missense 11/27 - 1
7-117199675-A-G c.1550A>G p.Y517C Missense 11/27 - 4
7-117199676-C-A c.1551C>A p.Y517* Nonsense 11/27 - 1
7-117199676-C-G c.1551C>G p.Y517* Nonsense 11/27 - 1
7-117199677-A-T c.1552A>T p.R518* Nonsense 11/27 - 1
7-117199678-G-A c.1553G>A p.R518K Missense 11/27 - 1
7-117199681-G-A c.1556G>A p.S519N Missense 11/27 - 3
7-117199682-C-T c.1557C>T p.S519= Synonymous 11/27 - 2
7-117199683-G-A c.1558G>A p.V520I Missense 11/27 - 26
7-117199683-G-T c.1558G>T p.V520F Missense 11/27 - 75
7-117199684-T-A c.1559T>A p.V520D Missense 11/27 - 2
7-117199684-T-C c.1559T>C p.V520A Missense 11/27 - 1
7-117199685-C-T c.1560C>T p.V520= Synonymous 11/27 - 1
7-117199686-A-C c.1561A>C p.I521L Missense 11/27 - 3
7-117199686-A-T c.1561A>T p.I521F Missense 11/27 - 4
7-117199688-C-G c.1563C>G p.I521M Missense 11/27 - 2
7-117199690-A-G c.1565A>G p.K522R Missense 11/27 - 1
7-117199692-G-A c.1567G>A p.A523T Missense 11/27 - 3
7-117199695-T-A c.1570T>A p.C524S Missense 11/27 - 4
7-117199695-T-C c.1570T>C p.C524R Missense 11/27 - 2
7-117199695-TG-AC c.1570_1571delinsAC p.C524T Missense 11/27 - 1
7-117199695-TG-GC c.1570_1571delinsGC p.C524A Missense 11/27 - 2
7-117199696-G-C c.1571G>C p.C524S Missense 11/27 - 4
7-117199696-G-A c.1571G>A p.C524Y Missense 11/27 - 2
7-117199697-C-A c.1572C>A p.C524* Nonsense 11/27 - 25
7-117199698-C-T c.1573C>T p.Q525* Nonsense 11/27 - 8
7-117199701-C-A c.1576C>A p.L526I Missense 11/27 - 2
7-117199701-CT-GC c.1576_1577delinsGC p.L526A Missense 11/27 - 2
7-117199701-C-T c.1576C>T p.L526= Synonymous 11/27 - 2
7-117199703-A-C c.1578A>C p.L526= Synonymous 11/27 - 2
7-117199703-A-G c.1578A>G p.L526= Synonymous 11/27 - 2
7-117199703-A-T c.1578A>T p.L526= Synonymous 11/27 - 2
7-117199704-G-A c.1579G>A p.E527K Missense 11/27 - 2
7-117199704-GAA-AAC c.1579_1581delinsAAC p.E527N Missense 11/27 - 1
7-117199704-G-C c.1579G>C p.E527Q Missense 11/27 - 3
7-117199705-A-G c.1580A>G p.E527G Missense 11/27 - 2
7-117199706-A-G c.1581A>G p.E527= Synonymous 11/27 - 3
7-117199707-G-A c.1582G>A p.E528K Missense 11/27 - 3
7-117199707-G-C c.1582G>C p.E528Q Missense 11/27 - 1
7-117199709-G-A c.1584G>A p.E528= Synonymous 11/27 - 31
7-117199709-G-C c.1584G>C p.E528D Missense 11/27 - 7
7-117199709-G-T c.1584G>T p.E528D Missense 11/27 - 8
7-117199710-G-A c.1584+1G>A - IntronicSNV - 11/26 3
7-117199721-T-C c.1584+12T>C - IntronicSNV - 11/26 1
7-117200184-T-C c.1584+475T>C - IntronicSNV - 11/26 1
7-117200398-G-A c.1584+689G>A - IntronicSNV - 11/26 1
7-117200481-G-C c.1584+772G>C - IntronicSNV - 11/26 2
7-117200510-G-T c.1584+801G>T - IntronicSNV - 11/26 1
7-117200899-C-T c.1584+1190C>T - IntronicSNV - 11/26 3
7-117201016-CT-C c.1584+1316del - IntronicDeletion - 11/26 1
7-117201363-CT-C c.1584+1664del - IntronicDeletion - 11/26 1
7-117201410-T-A c.1584+1701T>A - IntronicSNV - 11/26 1
7-117201410-T-G c.1584+1701T>G - IntronicSNV - 11/26 1
7-117202434-A-G c.1584+2725A>G - IntronicSNV - 11/26 1
7-117202484-C-G c.1584+2775C>G - IntronicSNV - 11/26 1
7-117202817-A-G c.1584+3108A>G - IntronicSNV - 11/26 1
7-117203417-A-G c.1584+3708A>G - IntronicSNV - 11/26 7
7-117204322-G-T c.1584+4613G>T - IntronicSNV - 11/26 1
7-117204358-G-A c.1584+4649G>A - IntronicSNV - 11/26 1
7-117204462-A-G c.1584+4753A>G - IntronicSNV - 11/26 2
7-117204713-T-G c.1584+5004T>G - IntronicSNV - 11/26 1
7-117206213-C-T c.1584+6504C>T - IntronicSNV - 11/26 1
7-117206695-G-A c.1584+6986G>A - IntronicSNV - 11/26 1
7-117206883-A-G c.1584+7174A>G - IntronicSNV - 11/26 2
7-117206941-T-G c.1584+7232T>G - IntronicSNV - 11/26 1
7-117207543-G-C c.1584+7834G>C - IntronicSNV - 11/26 1
7-117207760-C-T c.1584+8051C>T - IntronicSNV - 11/26 1
7-117207860-C-A c.1584+8151C>A - IntronicSNV - 11/26 1
7-117207864-C-T c.1584+8155C>T - IntronicSNV - 11/26 1
7-117208626-A-G c.1584+8917A>G - IntronicSNV - 11/26 1
7-117210123-G-A c.1584+10414G>A - IntronicSNV - 11/26 1
7-117210368-C-T c.1584+10659C>T - IntronicSNV - 11/26 1
7-117210400-G-A c.1584+10691G>A - IntronicSNV - 11/26 1
7-117211054-A-G c.1584+11345A>G - IntronicSNV - 11