AKAP9

AKAP9 A-kinase anchoring protein 9

Annotation transcript: NM_005751.5

3958 unique variant annotations were identified in 1176 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
7-91570217-A-T c.-197A>T - 5-UTRSNV 1/50 - 1
7-91570282-G-A c.-132G>A - 5-UTRSNV 1/50 - 1
7-91570282-G-C c.-132G>C - 5-UTRSNV 1/50 - 1
7-91570290-G-C c.-124G>C - 5-UTRSNV 1/50 - 11
7-91570416-G-A c.3G>A p.M1? Missense 1/50 - 1
7-91570420-G-T c.7G>T p.D3Y Missense 1/50 - 1
7-91570422-C-T c.9C>T p.D3= Synonymous 1/50 - 2
7-91570423-G-A c.10G>A p.E4K Missense 1/50 - 1
7-91570426-G-A c.13G>A p.E5K Missense 1/50 - 1
7-91570428-G-C c.15G>C p.E5D Missense 1/50 - 2
7-91570428-G-T c.15G>T p.E5D Missense 1/50 - 1
7-91570428-G-GA c.16dup p.R6Kfs*41 Frameshift 1/50 - 1
7-91570429-A-G c.16A>G p.R6G Missense 1/50 - 1
7-91570429-AG-CC c.16_17delinsCC p.R6P Missense 1/50 - 1
7-91570430-G-C c.17G>C p.R6T Missense 1/50 - 1
7-91570432-CAGA-C c.25_27del p.K9del InFrameDeletion 1/50 - 1
7-91570439-AG-TC c.26_27delinsTC p.K9I Missense 1/50 - 1
7-91570442-T-C c.29T>C p.L10P Missense 1/50 - 2
7-91570444-GAG-TTT c.31_33delinsTTT p.E11F Missense 1/50 - 1
7-91570447-G-A c.34G>A p.A12T Missense 1/50 - 4
7-91570447-GC-CA c.34_35delinsCA p.A12H Missense 1/50 - 2
7-91570447-GCC-AAG c.34_36delinsAAG p.A12K Missense 1/50 - 2
7-91570447-GCC-CAA c.34_36delinsCAA p.A12Q Missense 1/50 - 3
7-91570447-GC-CT c.34_35delinsCT p.A12L Missense 1/50 - 1
7-91570447-GCC-TAA c.34_36delinsTAA p.A12* Nonsense 1/50 - 1
7-91570447-GCC-TGG c.34_36delinsTGG p.A12W Missense 1/50 - 2
7-91570447-GC-TT c.34_35delinsTT p.A12F Missense 1/50 - 1
7-91570448-CC-AG c.35_36delinsAG p.A12E Missense 1/50 - 1
7-91570448-C-T c.35C>T p.A12V Missense 1/50 - 4
7-91570450-G-T c.37G>T p.G13C Missense 1/50 - 1
7-91570449-CG-C c.38del p.G13Afs*43 Frameshift 1/50 - 1
7-91570451-G-A c.38G>A p.G13D Missense 1/50 - 3
7-91570452-C-T c.39C>T p.G13= Synonymous 1/50 - 1
7-91570456-GC-AT c.43_44delinsAT p.A15I Missense 1/50 - 2
7-91570456-GCC-ATG c.43_45delinsATG p.A15M Missense 1/50 - 1
7-91570456-GC-CT c.43_44delinsCT p.A15L Missense 1/50 - 1
7-91570456-GCC-TAA c.43_45delinsTAA p.A15* Nonsense 1/50 - 1
7-91570457-CC-AG c.44_45delinsAG p.A15E Missense 1/50 - 1
7-91570457-C-G c.44C>G p.A15G Missense 1/50 - 1
7-91570457-C-T c.44C>T p.A15V Missense 1/50 - 7
7-91570458-C-A c.45C>A p.A15= Synonymous 1/50 - 1
7-91570458-C-G c.45C>G p.A15= Synonymous 1/50 - 1
7-91570458-C-T c.45C>T p.A15= Synonymous 1/50 - 1
7-91570459-A-G c.46A>G p.K16E Missense 1/50 - 1
7-91570460-A-C c.47A>C p.K16T Missense 1/50 - 1
7-91570460-A-T c.47A>T p.K16M Missense 1/50 - 1
7-91570461-G-C c.48G>C p.K16N Missense 1/50 - 1
7-91570461-G-T c.48G>T p.K16N Missense 1/50 - 1
7-91570615-C-A c.48+154C>A - IntronicSNV - 1/49 2
7-91571186-C-A c.48+725C>A - IntronicSNV - 1/49 1
7-91576659-AT-A c.48+6207del - IntronicDeletion - 1/49 1
7-91578639-G-A c.48+8178G>A - IntronicSNV - 1/49 1
7-91579716-C-T c.48+9255C>T - IntronicSNV - 1/49 1
7-91580490-A-G c.48+10029A>G - IntronicSNV - 1/49 5
7-91580490-A-T c.48+10029A>T - IntronicSNV - 1/49 5
7-91580513-G-A c.48+10052G>A - IntronicSNV - 1/49 1
7-91580571-A-G c.48+10110A>G - IntronicSNV - 1/49 8
7-91580571-A-T c.48+10110A>T - IntronicSNV - 1/49 8
7-91581121-C-A c.48+10660C>A - IntronicSNV - 1/49 4
7-91581503-C-T c.48+11042C>T - IntronicSNV - 1/49 4
7-91583334-C-G c.48+12873C>G - IntronicSNV - 1/49 4
7-91583334-C-T c.48+12873C>T - IntronicSNV - 1/49 4
7-91583772-T-C c.48+13311T>C - IntronicSNV - 1/49 1
7-91584281-A-G c.48+13820A>G - IntronicSNV - 1/49 1
7-91585750-C-T c.48+15289C>T - IntronicSNV - 1/49 1
7-91585962-AT-A c.48+15510del - IntronicDeletion - 1/49 1
7-91586389-A-G c.48+15928A>G - IntronicSNV - 1/49 1
7-91586389-A-T c.48+15928A>T - IntronicSNV - 1/49 1
7-91587050-T-G c.49-15975T>G - IntronicSNV - 1/49 1
7-91590199-A-G c.49-12826A>G - IntronicSNV - 1/49 1
7-91591230-G-A c.49-11795G>A - IntronicSNV - 1/49 1
7-91595138-T-A c.49-7887T>A - IntronicSNV - 1/49 1
7-91596121-G-C c.49-6904G>C - IntronicSNV - 1/49 1
7-91596121-G-T c.49-6904G>T - IntronicSNV - 1/49 1
7-91599825-A-C c.49-3200A>C - IntronicSNV - 1/49 4
7-91599825-A-G c.49-3200A>G - IntronicSNV - 1/49 4
7-91599825-A-T c.49-3200A>T - IntronicSNV - 1/49 4
7-91603028-G-C c.52G>C p.A18P Missense 2/50 - 4
7-91603028-GC-AT c.52_53delinsAT p.A18I Missense 2/50 - 1
7-91603028-GCC-ATG c.52_54delinsATG p.A18M Missense 2/50 - 1
7-91603028-GCC-CAA c.52_54delinsCAA p.A18Q Missense 2/50 - 2
7-91603028-GC-TT c.52_53delinsTT p.A18F Missense 2/50 - 3
7-91603029-C-G c.53C>G p.A18G Missense 2/50 - 2
7-91603029-C-T c.53C>T p.A18V Missense 2/50 - 6
7-91603033-G-A c.57G>A p.Q19= Synonymous 2/50 - 1
7-91603037-CGA-TGT c.61_63delinsTGT p.R21C Missense 2/50 - 1
7-91603037-C-T c.61C>T p.R21* Nonsense 2/50 - 4
7-91603038-G-A c.62G>A p.R21Q Missense 2/50 - 3
7-91603038-GA-AT c.62_63delinsAT p.R21H Missense 2/50 - 1
7-91603044-G-T c.68G>T p.R23I Missense 2/50 - 1
7-91603049-GCT-AAG c.73_75delinsAAG p.A25K Missense 2/50 - 1
7-91603049-GC-TG c.73_74delinsTG p.A25C Missense 2/50 - 1
7-91603049-GC-TT c.73_74delinsTT p.A25F Missense 2/50 - 1
7-91603050-C-A c.74C>A p.A25D Missense 2/50 - 3
7-91603050-CT-AG c.74_75inv p.A25E Missense 2/50 - 3
7-91603051-T-A c.75T>A p.A25= Synonymous 2/50 - 3
7-91603051-T-C c.75T>C p.A25= Synonymous 2/50 - 3
7-91603051-T-G c.75T>G p.A25= Synonymous 2/50 - 3
7-91603052-C-T c.76C>T p.Q26* Nonsense 2/50 - 1
7-91603056-C-T c.80C>T p.S27L Missense 2/50 - 8
7-91603058-GAT-AAG c.82_84delinsAAG p.D28K Missense 2/50 - 1
7-91603061-G-A c.85G>A p.G29R Missense 2/50 - 1
7-91603061-G-C c.85G>C p.G29R Missense 2/50 - 1
7-91603064-C-T c.88C>T p.Q30* Nonsense 2/50 - 1
7-91603065-A-G c.89A>G p.Q30R Missense 2/50 - 1
7-91603065-A-T c.89A>T p.Q30L Missense 2/50 - 1
7-91603067-AGT-TGA c.91_93delinsTGA p.S31* Nonsense 2/50 - 1
7-91603074-C-T c.98C>T p.S33F Missense 2/50 - 2
7-91603076-A-C c.100A>C p.K34Q Missense 2/50 - 1
7-91603082-C-A c.106C>A p.Q36K Missense 2/50 - 1
7-91603085-A-G c.109A>G p.K37E Missense 2/50 - 3
7-91603085-A-T c.109A>T p.K37* Nonsense 2/50 - 1
7-91603087-A-C c.111A>C p.K37N Missense 2/50 - 1
7-91603087-A-T c.111A>T p.K37N Missense 2/50 - 1
7-91603088-AA-GC c.112_113delinsGC p.K38A Missense 2/50 - 1
7-91603088-A-G c.112A>G p.K38E Missense 2/50 - 1
7-91603089-AA-TG c.113_114delinsTG p.K38M Missense 2/50 - 1
7-91603089-A-G c.113A>G p.K38R Missense 2/50 - 2
7-91603090-A-C c.114A>C p.K38N Missense 2/50 - 1
7-91603091-A-G c.115A>G p.K39E Missense 2/50 - 1
7-91603084-GA-G c.116del p.K39Rfs*17 Frameshift 2/50 - 9
7-91603084-G-GA c.116dup p.R40Efs*7 Frameshift 2/50 - 3
7-91603092-A-AG c.117dup p.R40Efs*7 Frameshift 2/50 - 1
7-91603094-AGA-TGT c.118_120delinsTGT p.R40C Missense 2/50 - 1
7-91603095-G-A c.119G>A p.R40K Missense 2/50 - 3
7-91603097-A-G c.121A>G p.K41E Missense 2/50 - 2
7-91603098-A-C c.122A>C p.K41T Missense 2/50 - 2
7-91603100-A-G c.124A>G p.T42A Missense 2/50 - 1
7-91603100-A-T c.124A>T p.T42S Missense 2/50 - 1
7-91603104-CA-GG c.128_129delinsGG p.S43W Missense 2/50 - 1
7-91603109-AG-TT c.133_134delinsTT p.S45F Missense 2/50 - 1
7-91603110-G-A c.134G>A p.S45N Missense 2/50 - 1
7-91603111-GT-G c.135del p.S45Rfs*11 Frameshift 2/50 - 1
7-91603115-C-T c.139C>T p.H47Y Missense 2/50 - 12
7-91603117-T-G c.141T>G p.H47Q Missense 2/50 - 1
7-91603118-G-T c.142G>T p.D48Y Missense 2/50 - 1
7-91603120-T-A c.144T>A p.D48E Missense 2/50 - 1
7-91603120-T-G c.144T>G p.D48E Missense 2/50 - 1
7-91603120-T-TA c.144_145insA p.V49Sfs*6 Frameshift 2/50 - 1
7-91603127-G-A c.151G>A p.A51T Missense 2/50 - 3
7-91603127-G-C c.151G>C p.A51P Missense 2/50 - 1
7-91603128-C-G c.152C>G p.A51G Missense 2/50 - 1
7-91603128-C-T c.152C>T p.A51V Missense 2/50 - 2
7-91603131-A-T c.155A>T p.H52L Missense 2/50 - 1
7-91603134-A-C c.158A>C p.H53P Missense 2/50 - 1
7-91603134-A-G c.158A>G p.H53R Missense 2/50 - 2
7-91603135-T-A c.159T>A p.H53Q Missense 2/50 - 1
7-91603135-T-G c.159T>G p.H53Q Missense 2/50 - 1
7-91603136-G-A c.160G>A p.D54N Missense 2/50 - 2
7-91603140-T-A c.164T>A p.L55* Nonsense 2/50 - 1
7-91603144-T-C c.168T>C p.N56= Synonymous 2/50 - 5
7-91603145-A-G c.169A>G p.I57V Missense 2/50 - 1
7-91603146-TT-GG c.170_171delinsGG p.I57R Missense 2/50 - 1
7-91603147-T-A c.171T>A p.I57= Synonymous 2/50 - 1
7-91603147-T-C c.171T>C p.I57= Synonymous 2/50 - 1
7-91603148-G-A c.172G>A p.D58N Missense 2/50 - 3
7-91603150-T-A c.174T>A p.D58E Missense 2/50 - 1
7-91603150-T-G c.174T>G p.D58E Missense 2/50 - 1
7-91603151-C-T c.175C>T p.Q59* Nonsense 2/50 - 1
7-91603154-T-C c.178T>C p.S60P Missense 2/50 - 2
7-91603154-TC-GG c.178_179delinsGG p.S60G Missense 2/50 - 1
7-91603155-C-T c.179C>T p.S60L Missense 2/50 - 2
7-91603157-C-A c.181C>A p.Q61K Missense 2/50 - 1
7-91603159-G-C c.183G>C p.Q61H Missense 2/50 - 1
7-91603160-T-C c.184T>C p.C62R Missense 2/50 - 3
7-91603161-GTAA-G c.187_189del p.N63del InFrameDeletion 2/50 - 1
7-91603164-A-G c.188A>G p.N63S Missense 2/50 - 1
7-91603164-A-T c.188A>T p.N63I Missense 2/50 - 1
7-91603166-G-A c.190G>A p.E64K Missense 2/50 - 1
7-91603172-T-C c.196T>C p.Y66H Missense 2/50 - 1
7-91603173-A-G c.197A>G p.Y66C Missense 2/50 - 1
7-91603176-T-C c.200T>C p.I67T Missense 2/50 - 1
7-91603180-T-C c.204T>C p.N68= Synonymous 2/50 - 1
7-91603181-A-G c.205A>G p.S69G Missense 2/50 - 1
7-91603184-T-C c.208T>C p.S70P Missense 2/50 - 1
7-91603184-TC-CT c.208_209delinsCT p.S70L Missense 2/50 - 1
7-91603185-C-A c.209C>A p.S70Y Missense 2/50 - 3
7-91603186-T-A c.210T>A p.S70= Synonymous 2/50 - 1
7-91603186-T-C c.210T>C p.S70= Synonymous 2/50 - 1
7-91603186-T-G c.210T>G p.S70= Synonymous 2/50 - 1
7-91603188-A-G c.212A>G p.Q71R Missense 2/50 - 1
7-91603191-G-C c.215G>C p.R72T Missense 2/50 - 1
7-91603193-G-T c.217G>T p.V73L Missense 2/50 - 1
7-91603196-G-C c.220G>C p.E74Q Missense 2/50 - 1
7-91603197-A-G c.221A>G p.E74G Missense 2/50 - 1
7-91603199-TC-GG c.223_224delinsGG p.S75G Missense 2/50 - 1
7-91603202-A-G c.226A>G p.T76A Missense 2/50 - 1
7-91603203-C-T c.227C>T p.T76I Missense 2/50 - 2
7-91603204-CT-C c.228del p.V77* Frameshift 2/50 - 2
7-91603204-T-TTA c.228_229insTA p.V77* Nonsense 2/50 - 2
7-91603205-GT-TA c.229_230delinsTA p.V77* Nonsense 2/50 - 3
7-91603205-TG-T c.229del p.V77* Frameshift 2/50 - 2
7-91603206-T-C c.230T>C p.V77A Missense 2/50 - 1
7-91603206-T-G c.230T>G p.V77G Missense 2/50 - 1
7-91603211-C-T c.235C>T p.P79S Missense 2/50 - 4
7-91603212-C-G c.236C>G p.P79R Missense 2/50 - 1
7-91603212-C-T c.236C>T p.P79L Missense 2/50 - 1
7-91603215-A-C c.239A>C p.E80A Missense 2/50 - 1
7-91603215-A-G c.239A>G p.E80G Missense 2/50 - 2
7-91603216-A-G c.240A>G p.E80= Synonymous 2/50 - 1
7-91603217-TC-AA c.241_242delinsAA p.S81N Missense 2/50 - 1
7-91603218-C-A c.242C>A p.S81Y Missense 2/50 - 1
7-91603218-C-T c.242C>T p.S81F Missense 2/50 - 3
7-91603218-CT-AA c.242_243delinsAA p.S81* Nonsense 2/50 - 1
7-91603222-A-G c.246A>G p.T82= Synonymous 2/50 - 1
7-91603225-A-G c.249A>G p.I83M Missense 2/50 - 1
7-91603224-T-TA c.250dup p.M84Nfs*6 Frameshift 2/50 - 1
7-91603226-A-G c.250A>G p.M84V Missense 2/50 - 2
7-91603228-G-A c.252G>A p.M84I Missense 2/50 - 3
7-91603228-G-C c.252G>C p.M84I Missense 2/50 - 1
7-91603228-G-T c.252G>T p.M84I Missense 2/50 - 1
7-91603230-G-A c.254G>A p.R85K Missense 2/50 - 1
7-91603230-G-T c.254G>T p.R85I Missense 2/50 - 2
7-91603233-C-A c.257C>A p.T86N Missense 2/50 - 1
7-91603233-C-T c.257C>T p.T86I Missense 2/50 - 2
7-91603236-CT-C c.260del p.L87Hfs*6 Frameshift 2/50 - 1
7-91603237-A-C c.261A>C p.L87= Synonymous 2/50 - 1
7-91603238-C-G c.262C>G p.H88D Missense 2/50 - 1
7-91603238-C-T c.262C>T p.H88Y Missense 2/50 - 1
7-91603242-G-C c.266G>C p.S89T Missense 2/50 - 1
7-91603244-G-C c.268G>C p.G90R Missense 2/50 - 1
7-91603247-G-A c.271G>A p.E91K Missense 2/50 - 1
7-91603248-A-G c.272A>G p.E91G Missense 2/50 - 1
7-91603250-A-G c.274A>G p.I92V Missense 2/50 - 1
7-91603253-A-G c.277A>G p.T93A Missense 2/50 - 1
7-91603256-A-G c.280A>G p.S94G Missense 2/50 - 1
7-91603257-G-A c.281G>A p.S94N Missense 2/50 - 1
7-91603257-G-T c.281G>T p.S94I Missense 2/50 - 2
7-91603258-T-C c.282T>C p.S94= Synonymous 2/50 - 1
7-91603259-C-G c.283C>G p.H95D Missense 2/50 - 1
7-91603260-A-C c.284A>C p.H95P Missense 2/50 - 1
7-91603261-T-G c.285T>G p.H95Q Missense 2/50 - 1
7-91603262-GAG-TGT c.286_288delinsTGT p.E96C Missense 2/50 - 1
7-91603263-A-T c.287A>T p.E96V Missense 2/50 - 1
7-91603264-G-A c.288G>A p.E96= Synonymous 2/50 - 2
7-91603264-G-C c.288G>C p.E96D Missense 2/50 - 1
7-91603264-G-T c.288G>T p.E96D Missense 2/50 - 3
7-91603265-C-G c.289C>G p.Q97E Missense 2/50 - 2
7-91603268-G-C c.292G>C p.G98R Missense 2/50 - 1
7-91603269-G-A c.293G>A p.G98D Missense 2/50 - 1
7-91603274-T-C c.298T>C p.S100P Missense 2/50 - 5
7-91603276-T-A c.300T>A p.S100= Synonymous 2/50 - 3
7-91603276-T-C c.300T>C p.S100= Synonymous 2/50 - 3
7-91603276-T-G c.300T>G p.S100= Synonymous 2/50 - 3
7-91603279-G-A c.303G>A p.V101= Synonymous 2/50 - 1
7-91603279-G-C c.303G>C p.V101= Synonymous 2/50 - 1
7-91603279-G-T c.303G>T p.V101= Synonymous 2/50 - 1
7-91603280-G-A c.304G>A p.E102K Missense 2/50 - 1
7-91603283-G-A c.306+1G>A - IntronicSNV - 2/49 1
7-91603284-T-A c.306+2T>A - IntronicSNV - 2/49 1
7-91603280-GAAGT-G c.306+4_306+7del - IntronicDeletion - 2/49 1
7-91603306-A-G c.306+24A>G - IntronicSNV - 2/49 1
7-91605864-C-CT c.306+2589dup - IntronicInsertion - 2/49 1
7-91606944-G-A c.307-2659G>A - IntronicSNV - 2/49 1
7-91609607-A-C c.311A>C p.E104A Missense 3/50 - 1
7-91609607-A-G c.311A>G p.E104G Missense 3/50 - 1
7-91609609-A-G c.313A>G p.S105G Missense 3/50 - 1
7-91609610-G-T c.314G>T p.S105I Missense 3/50 - 1
7-91609615-A-G c.319A>G p.I107V Missense 3/50 - 3
7-91609617-T-A c.321T>A p.I107= Synonymous 3/50 - 1
7-91609619-C-A c.323C>A p.S108* Nonsense 3/50 - 1
7-91609619-C-T c.323C>T p.S108L Missense 3/50 - 2
7-91609623-C-T c.327C>T p.T109= Synonymous 3/50 - 1
7-91609624-A-T c.328A>T p.T110S Missense 3/50 - 2
7-91609625-CA-TG c.329_330inv p.T110M Missense 3/50 - 1
7-91609628-C-T c.332C>T p.A111V Missense 3/50 - 2
7-91609630-G-C c.334G>C p.D112H Missense 3/50 - 1
7-91609631-A-G c.335A>G p.D112G Missense 3/50 - 1
7-91609637-G-C c.341G>C p.C114S Missense 3/50 - 1
7-91609638-C-T c.342C>T p.C114= Synonymous 3/50 - 1
7-91609639-A-C c.343A>C p.S115R Missense 3/50 - 1
7-91609641-T-A c.345T>A p.S115R Missense 3/50 - 1
7-91609641-T-G c.345T>G p.S115R Missense 3/50 - 1
7-91609642-T-C c.346T>C p.S116P Missense 3/50 - 1
7-91609645-G-C c.349G>C p.E117Q Missense 3/50 - 1
7-91609789-T-C c.351+142T>C - IntronicSNV - 3/49 1
7-91609809-C-T c.351+162C>T - IntronicSNV - 3/49 1
7-91609809-C-CTCT c.351+163_351+164insCTT - IntronicInsertion - 3/49 1
7-91610644-TA-T c.351+1003del - IntronicDeletion - 3/49 1
7-91611480-C-CGTACGTAT c.351+1836_351+1837insCGTATGTA - IntronicInsertion - 3/49 1
7-91611480-C-CGTACGTATGTAT c.351+1836_351+1837insCGTATGTATGTA - IntronicInsertion - 3/49 1
7-91613296-GT-G c.351+3656del - IntronicDeletion - 3/49 1
7-91615427-C-A c.351+5780C>A - IntronicSNV - 3/49 1
7-91617091-C-G c.352-4381C>G - IntronicSNV - 3/49 1
7-91620096-G-A c.352-1376G>A - IntronicSNV - 3/49 3
7-91621472-GTA-ATG c.352_354delinsATG p.V118M Missense 4/50 - 1
7-91621476-A-G c.356A>G p.N119S Missense 4/50 - 1
7-91621476-A-T c.356A>T p.N119I Missense 4/50 - 1
7-91621479-G-C c.359G>C p.G120A Missense 4/50 - 1
7-91621481-T-C c.361T>C p.C121R Missense 4/50 - 1
7-91621482-G-T c.362G>T p.C121F Missense 4/50 - 1
7-91621484-A-G c.364A>G p.S122G Missense 4/50 - 1
7-91621485-G-C c.365G>C p.S122T Missense 4/50 - 1
7-91621485-GT-G c.369del p.F123Lfs*2 Frameshift 4/50 - 1
7-91621490-G-T c.370G>T p.V124L Missense 4/50 - 1
7-91621493-GA-G c.373del p.M125* Frameshift 4/50 - 1
7-91621495-G-A c.375G>A p.M125I Missense 4/50 - 1
7-91621495-G-C c.375G>C p.M125I Missense 4/50 - 1
7-91621495-G-T c.375G>T p.M125I Missense 4/50 - 1
7-91621496-AG-CA c.376_377delinsCA p.R126Q Missense 4/50 - 1
7-91621497-G-A c.377G>A p.R126K Missense 4/50 - 2
7-91621497-G-T c.377G>T p.R126I Missense 4/50 - 1
7-91621499-A-C c.379A>C p.T127P Missense 4/50 - 1
7-91621500-C-T c.380C>T p.T127I Missense 4/50 - 1
7-91621503-G-A c.383G>A p.G128E Missense 4/50 - 1
7-91621503-G-C c.383G>C p.G128A Missense 4/50 - 2
7-91621507-G-T c.387G>T p.K129N Missense 4/50 - 1
7-91621508-C-T c.388C>T p.P130S Missense 4/50 - 3
7-91621509-C-T c.389C>T p.P130L Missense 4/50 - 2
7-91621511-A-G c.391A>G p.T131A Missense 4/50 - 1
7-91621514-A-C c.394A>C p.N132H Missense 4/50 - 1
7-91621517-T-G c.397T>G p.L133V Missense 4/50 - 3
7-91621520-TT-CC c.400_401delinsCC p.L134P Missense 4/50 - 1
7-91621522-A-T c.402A>T p.L134F Missense 4/50 - 1
7-91621524-G-A c.404G>A p.R135K Missense 4/50 - 1
7-91621524-G-T c.404G>T p.R135M Missense 4/50 - 1
7-91621525-G-T c.405G>T p.R135S Missense 4/50 - 2
7-91621740-G-C c.405+215G>C - IntronicSNV - 4/49 1
7-91621992-A-AC c.406-207_406-206insC - IntronicInsertion - 4/49 1
7-91621992-A-C c.406-207A>C - IntronicSNV - 4/49 1
7-91621993-A-AC c.406-206_406-205insC - IntronicInsertion - 4/49 1
7-91622199-G-A c.406G>A p.E136K Missense 5/50 - 1
7-91622202-G-A c.409G>A p.E137K Missense 5/50 - 1
7-91622204-A-C c.411A>C p.E137D Missense 5/50 - 1
7-91622204-A-T c.411A>T p.E137D Missense 5/50 - 1
7-91622205-G-A c.412G>A p.E138K Missense 5/50 - 2
7-91622217-G-A c.424G>A p.D142N Missense 5/50 - 1
7-91622217-G-C c.424G>C p.D142H Missense 5/50 - 1
7-91622219-T-A c.426T>A p.D142E Missense 5/50 - 1
7-91622219-T-G c.426T>G p.D142E Missense 5/50 - 1
7-91622220-G-A c.427G>A p.D143N Missense 5/50 - 1
7-91622221-A-T c.428A>T p.D143V Missense 5/50 - 1
7-91622223-T-C c.430T>C p.S144P Missense 5/50 - 1
7-91622223-TC-CT c.430_431delinsCT p.S144L Missense 5/50 - 1
7-91622223-TC-GG c.430_431delinsGG p.S144G Missense 5/50 - 1
7-91622224-C-G c.431C>G p.S144C Missense 5/50 - 2
7-91622229-TC-CT c.436_437delinsCT p.S146L Missense 5/50 - 1
7-91622230-C-A c.437C>A p.S146Y Missense 5/50 - 1
7-91622232-G-A c.439G>A p.E147K Missense 5/50 - 1
7-91622234-A-C c.441A>C p.E147D Missense 5/50 - 1
7-91622234-A-T c.441A>T p.E147D Missense 5/50 - 2
7-91622235-C-G c.442C>G p.Q148E Missense 5/50 - 1
7-91622235-C-T c.442C>T p.Q148* Nonsense 5/50 - 2
7-91622236-A-G c.443A>G p.Q148R Missense 5/50 - 1
7-91622239-G-T c.446G>T p.G149V Missense 5/50 - 1
7-91622241-G-C c.448G>C p.A150P Missense 5/50 - 1
7-91622244-C-T c.451C>T p.Q151* Nonsense 5/50 - 1
7-91622248-A-G c.455A>G p.D152G Missense 5/50 - 1
7-91622249-C-A c.456C>A p.D152E Missense 5/50 - 1
7-91622250-AG-GC c.457_458delinsGC p.S153A Missense 5/50 - 1
7-91622253-C-A c.460C>A p.P154T Missense 5/50 - 1
7-91622253-C-G c.460C>G p.P154A Missense 5/50 - 1
7-91622253-C-T c.460C>T p.P154S Missense 5/50 - 1
7-91622254-C-A c.461C>A p.P154Q Missense 5/50 - 1
7-91622254-C-T c.461C>T p.P154L Missense 5/50 - 2
7-91622257-C-A c.464C>A p.T155N Missense 5/50 - 1
7-91622257-CTCA-C c.467_469del p.H156del InFrameDeletion 5/50 - 1
7-91622264-A-G c.471A>G p.L157= Synonymous 5/50 - 1
7-91622265-G-T c.472G>T p.E158* Nonsense 5/50 - 1
7-91622268-A-G c.475A>G p.M159V Missense 5/50 - 1
7-91622270-G-A c.477G>A p.M159I Missense 5/50 - 2
7-91622273-G-A c.480G>A p.M160I Missense 5/50 - 4
7-91622273-G-C c.480G>C p.M160I Missense 5/50 - 2
7-91622273-G-T c.480G>T p.M160I Missense 5/50 - 2
7-91622277-A-G c.484A>G p.S162G Missense 5/50 - 1
7-91622283-T-C c.490T>C p.L164= Synonymous 5/50 - 2
7-91622285-G-A c.492G>A p.L164= Synonymous 5/50 - 1
7-91622286-G-A c.493G>A p.A165T Missense 5/50 - 1
7-91622289-G-A c.496G>A p.G166R Missense 5/50 - 1
7-91622290-G-T c.497G>T p.G166V Missense 5/50 - 1
7-91622293-A-G c.500A>G p.K167R Missense 5/50 - 1
7-91622295-C-T c.502C>T p.Q168* Nonsense 5/50 - 1
7-91622296-A-G c.503A>G p.Q168R Missense 5/50 - 1
7-91622299-A-G c.506A>G p.H169R Missense 5/50 - 1
7-91622300-T-G c.507T>G p.H169Q Missense 5/50 - 1
7-91622301-G-A c.508G>A p.E170K Missense 5/50 - 1
7-91622301-G-T c.508G>T p.E170* Nonsense 5/50 - 1
7-91622302-A-G c.509A>G p.E170G Missense 5/50 - 1
7-91622302-A-T c.509A>T p.E170V Missense 5/50 - 2
7-91622303-G-C c.510G>C p.E170D Missense 5/50 - 10
7-91622303-G-T c.510G>T p.E170D Missense 5/50 - 2
7-91622307-G-T c.514G>T p.E172* Nonsense 5/50 - 1
7-91622313-C-G c.520C>G p.L174V Missense 5/50 - 1
7-91622313-C-T c.520C>T p.L174= Synonymous 5/50 - 2
7-91622315-A-C c.522A>C p.L174= Synonymous 5/50 - 1
7-91622315-A-G c.522A>G p.L174= Synonymous 5/50 - 1
7-91622315-A-T c.522A>T p.L174= Synonymous 5/50 - 1
7-91622317-A-T c.524A>T p.N175I Missense 5/50 - 1
7-91622319-AGA-TGG c.526_528delinsTGG p.R176W Missense 5/50 - 1
7-91622319-AG-CA c.526_527delinsCA p.R176Q Missense 5/50 - 1
7-91622320-G-A c.527G>A p.R176K Missense 5/50 - 1
7-91622319-A-C c.526A>C p.R176= Synonymous 5/50 - 1
7-91622321-A-G c.528A>G p.R176= Synonymous 5/50 - 1
7-91622322-G-A c.529G>A p.E177K Missense 5/50 - 4
7-91622323-A-G c.530A>G p.E177G Missense 5/50 - 1
7-91622325-C-T c.532C>T p.L178= Synonymous 5/50 - 2
7-91622327-G-A c.534G>A p.L178= Synonymous 5/50 - 1
7-91622327-G-C c.534G>C p.L178= Synonymous 5/50 - 1
7-91622327-G-T c.534G>T p.L178= Synonymous 5/50 - 1
7-91622328-G-A c.535G>A p.E179K Missense 5/50 - 1
7-91622328-G-T c.535G>T p.E179* Nonsense 5/50 - 1
7-91622330-A-G c.537A>G p.E179= Synonymous 5/50 - 1
7-91622334-A-G c.541A>G p.M181V Missense 5/50 - 1
7-91622336-G-A c.543G>A p.M181I Missense 5/50 - 2
7-91622336-G-C c.543G>C p.M181I Missense 5/50 - 1
7-91622336-G-T c.543G>T p.M181I Missense 5/50 - 1
7-91622337-AGG-CAT c.544_546delinsCAT p.R182H Missense 5/50 - 1
7-91622337-A-T c.544A>T p.R182W Missense 5/50 - 1
7-91622339-G-C c.546G>C p.R182S Missense 5/50 - 3
7-91622339-G-T c.546G>T p.R182S Missense 5/50 - 3
7-91622340-G-A c.547G>A p.V183I Missense 5/50 - 3
7-91622341-T-A c.548T>A p.V183D Missense 5/50 - 1
7-91622344-CC-TG c.551_552delinsTG p.T184M Missense 5/50 - 1
7-91622346-T-G c.553T>G p.Y185D Missense 5/50 - 1
7-91622347-A-G c.554A>G p.Y185C Missense 5/50 - 1
7-91622347-A-T c.554A>T p.Y185F Missense 5/50 - 1
7-91622348-T-G c.555T>G p.Y185* Nonsense 5/50 - 1
7-91622349-G-T c.556G>T p.G186W Missense 5/50 - 1
7-91622350-G-A c.557G>A p.G186E Missense 5/50 - 2
7-91622350-G-C c.557G>C p.G186A Missense 5/50 - 1
7-91622352-A-G c.559A>G p.T187A Missense 5/50 - 1
7-91622353-C-T c.560C>T p.T187I Missense 5/50 - 2
7-91622355-G-A c.562G>A p.E188K Missense 5/50 - 1
7-91622358-G-A c.565G>A p.G189R Missense 5/50 - 1
7-91622367-C-G c.574C>G p.Q192E Missense 5/50 - 1
7-91622368-A-G c.575A>G p.Q192R Missense 5/50 - 2
7-91622368-CA-C c.575del p.Q192Rfs*16 Frameshift 5/50 - 1
7-91622369-G-C c.576G>C p.Q192H Missense 5/50 - 1
7-91622369-G-T c.576G>T p.Q192H Missense 5/50 - 1
7-91622464-AT-A c.576+104del - IntronicDeletion - 5/49 1
7-91622490-TTTC-T c.576+139_576+141del - IntronicDeletion - 5/49 1
7-91622531-C-G c.576+162C>G - IntronicSNV - 5/49 1
7-91623936-T-C c.578T>C p.L193S Missense 6/50 - 1
7-91623938-C-T c.580C>T p.Q194* Nonsense 6/50 - 1
7-91623950-G-A c.592G>A p.A198T Missense 6/50 - 2
7-91623950-G-C c.592G>C p.A198P Missense 6/50 - 1
7-91623951-C-T c.593C>T p.A198V Missense 6/50 - 1
7-91623952-T-A c.594T>A p.A198= Synonymous 6/50 - 1
7-91623953-G-A c.595G>A p.A199T Missense 6/50 - 4
7-91623955-C-A c.597C>A p.A199= Synonymous 6/50 - 1
7-91623955-C-G c.597C>G p.A199= Synonymous 6/50 - 1
7-91623955-C-T c.597C>T p.A199= Synonymous 6/50 - 1
7-91623960-A-G c.602A>G p.K201R Missense 6/50 - 2
7-91623961-A-C c.603A>C p.K201N Missense 6/50 - 1
7-91623961-A-G c.603A>G p.K201= Synonymous 6/50 - 1
7-91623961-A-T c.603A>T p.K201N Missense 6/50 - 1
7-91623962-C-T c.604C>T p.Q202* Nonsense 6/50 - 1
7-91623965-AGA-CAT c.607_609delinsCAT p.R203H Missense 6/50 - 1
7-91623965-A-T c.607A>T p.R203* Nonsense 6/50 - 2
7-91623968-G-A c.610G>A p.D204N Missense 6/50 - 6
7-91623972-G-C c.614G>C p.G205A Missense 6/50 - 1
7-91623974-A-G c.616A>G p.I206V Missense 6/50 - 1
7-91623974-A-T c.616A>T p.I206F Missense 6/50 - 1
7-91623980-A-G c.622A>G p.T208A Missense 6/50 - 1
7-91623983-C-T c.625C>T p.Q209* Nonsense 6/50 - 2
7-91623984-A-T c.626A>T p.Q209L Missense 6/50 - 1
7-91623986-C-T c.628C>T p.L210F Missense 6/50 - 1
7-91623988-C-G c.630C>G p.L210= Synonymous 6/50 - 1
7-91623990-C-A c.632C>A p.T211N Missense 6/50 - 1
7-91623992-G-T c.634G>T p.A212S Missense 6/50 - 1
7-91623993-C-G c.635C>G p.A212G Missense 6/50 - 1
7-91623993-C-T c.635C>T p.A212V Missense 6/50 - 1
7-91623995-A-G c.637A>G p.N213D Missense 6/50 - 2
7-91623999-T-C c.641T>C p.L214S Missense 6/50 - 1
7-91624001-C-T c.643C>T p.Q215* Nonsense 6/50 - 1
7-91624002-A-G c.644A>G p.Q215R Missense 6/50 - 1
7-91624003-ACAAG-A c.650_653del p.A217Efs*8 Frameshift 6/50 - 1
7-91624010-AGA-TGT c.652_654delinsTGT p.R218C Missense 6/50 - 2
7-91624010-AG-CA c.652_653delinsCA p.R218Q Missense 6/50 - 1
7-91624013-A-T c.655A>T p.R219* Nonsense 6/50 - 1
7-91624017-A-G c.659A>G p.E220G Missense 6/50 - 1
7-91624020-A-G c.662A>G p.K221R Missense 6/50 - 2
7-91624025-G-A c.667G>A p.E223K Missense 6/50 - 1
7-91624031-A-G c.673A>G p.M225V Missense 6/50 - 1
7-91624032-T-C c.674T>C p.M225T Missense 6/50 - 2
7-91624033-G-A c.675G>A p.M225I Missense 6/50 - 2
7-91624033-G-C c.675G>C p.M225I Missense 6/50 - 2
7-91624033-G-T c.675G>T p.M225I Missense 6/50 - 2
7-91624035-G-A c.677G>A p.R226K Missense 6/50 - 1
7-91624034-A-C c.676A>C p.R226= Synonymous 6/50 - 1
7-91624036-A-G c.678A>G p.R226= Synonymous 6/50 - 2
7-91624037-G-T c.679G>T p.E227* Nonsense 6/50 - 1
7-91624042-T-G c.684T>G p.F228L Missense 6/50 - 1
7-91624043-T-C c.685T>C p.L229= Synonymous 6/50 - 1
7-91624045-A-G c.687A>G p.L229= Synonymous 6/50 - 1
7-91624049-T-C c.691T>C p.L231= Synonymous 6/50 - 1
7-91624051-G-A c.693G>A p.L231= Synonymous 6/50 - 1
7-91624055-G-C c.697G>C p.E233Q Missense 6/50 - 1
7-91624066-A-AT c.708_709insT p.K237* Nonsense 6/50 - 2
7-91624064-CA-C c.711del p.K237Nfs*15 Frameshift 6/50 - 1
7-91624071-T-C c.713T>C p.L238S Missense 6/50 - 1
7-91624076-A-T c.718A>T p.I240F Missense 6/50 - 1
7-91624077-T-C c.719T>C p.I240T Missense 6/50 - 1
7-91624076-A-AT c.720dup p.Q241Sfs*8 Frameshift 6/50 - 1
7-91624079-C-G c.721C>G p.Q241E Missense 6/50 - 2
7-91624085-CAGCAAGTAAGTATTACTAATGCA-C c.729_732+19del - SpliceDonorDeletion 6/50 6/49 1
7-91624919-A-ACTTAGCGTACCTTAATATAGCCATTTTAGGATCTAAAGGTTTGAGGTAAGCTTTTATTTTCAACTT c.736_737insTTAGCGTACCTTAATATAGCCATTTTAGGATCTAAAGGTTTGAGGTAAGCTTTTATTTTCAACTTC p.L245_Q246insLSVP* InFrameInsertion 7/50 - 1
7-91624921-A-G c.737A>G p.Q246R Missense 7/50 - 1
7-91624923-G-A c.739G>A p.A247T Missense 7/50 - 1
7-91624926-AG-TT c.742_743delinsTT p.S248F Missense 7/50 - 1
7-91624927-G-A c.743G>A p.S248N Missense 7/50 - 2
7-91624928-T-C c.744T>C p.S248= Synonymous 7/50 - 1
7-91624931-A-G c.747A>G p.E249= Synonymous 7/50 - 3
7-91624932-A-G c.748A>G p.T250A Missense 7/50 - 2
7-91624933-C-G c.749C>G p.T250S Missense 7/50 - 1
7-91624934-T-A c.750T>A p.T250= Synonymous 7/50 - 1
7-91624934-T-C c.750T>C p.T250= Synonymous 7/50 - 1
7-91624934-T-G c.750T>G p.T250= Synonymous 7/50 - 1
7-91624934-T-TGG c.750_751insGG p.L251Gfs*2 Frameshift 7/50 - 1
7-91624936-T-G c.752T>G p.L251R Missense 7/50 - 1
7-91624938-A-G c.754A>G p.R252G Missense 7/50 - 1
7-91624938-AGA-CAT c.754_756delinsCAT p.R252H Missense 7/50 - 1
7-91624938-AGA-TGG c.754_756delinsTGG p.R252W Missense 7/50 - 1
7-91624943-C-A c.759C>A p.N253K Missense 7/50 - 1
7-91624943-C-G c.759C>G p.N253K Missense 7/50 - 1
7-91624945-G-C c.761G>C p.S254T Missense 7/50 - 1
7-91624947-A-C c.763A>C p.T255P Missense 7/50 - 1
7-91624947-A-G c.763A>G p.T255A Missense 7/50 - 1
7-91624948-C-T c.764C>T p.T255I Missense 7/50 - 1
7-91624948-CT-TG c.764_765delinsTG p.T255M Missense 7/50 - 1
7-91624951-A-G c.767A>G p.H256R Missense 7/50 - 1
7-91624956-AGC-TGA c.772_774delinsTGA p.S258* Nonsense 7/50 - 1
7-91624956-A-T c.772A>T p.S258C Missense 7/50 - 1
7-91624960-C-T c.776C>T p.T259I Missense 7/50 - 2
7-91624965-G-A c.781G>A p.A261T Missense 7/50 - 1
7-91624968-G-A c.784G>A p.D262N Missense 7/50 - 3
7-91624970-C-T c.786C>T p.D262= Synonymous 7/50 - 1
7-91624972-T-C c.788T>C p.L263S Missense 7/50 - 1
7-91624975-T-A c.791T>A p.L264Q Missense 7/50 - 1
7-91624975-T-C c.791T>C p.L264P Missense 7/50 - 3
7-91624979-A-C c.795A>C p.Q265H Missense 7/50 - 1
7-91624979-A-T c.795A>T p.Q265H Missense 7/50 - 1
7-91624981-C-A c.797C>A p.A266D Missense 7/50 - 1
7-91624984-A-T c.800A>T p.K267I Missense 7/50 - 1
7-91624985-A-G c.801A>G p.K267= Synonymous 7/50 - 1
7-91624991-G-C c.807G>C p.Q269H Missense 7/50 - 1
7-91624992-A-G c.808A>G p.I270V Missense 7/50 - 1
7-91624994-C-A c.810C>A p.I270= Synonymous 7/50 - 1
7-91624998-A-G c.814A>G p.T272A Missense 7/50 - 1
7-91624999-C-G c.815C>G p.T272S Missense 7/50 - 1
7-91625007-C-T c.823C>T p.Q275* Nonsense 7/50 - 1
7-91625011-A-T c.827A>T p.Q276L Missense 7/50 - 1
7-91625013-C-G c.829C>G p.L277V Missense 7/50 - 1
7-91625016-G-A c.832G>A p.E278K Missense 7/50 - 1
7-91625016-G-T c.832G>T p.E278* Nonsense 7/50 - 1
7-91625021-A-C c.837A>C p.E279D Missense 7/50 - 1
7-91625025-G-A c.841G>A p.D281N Missense 7/50 - 1
7-91625025-G-T c.841G>T p.D281Y Missense 7/50 - 2
7-91625027-C-T c.843C>T p.D281= Synonymous 7/50 - 1
7-91625028-C-G c.844C>G p.H282D Missense 7/50 - 1
7-91625028-C-T c.844C>T p.H282Y Missense 7/50 - 1
7-91625030-C-A c.846C>A p.H282Q Missense 7/50 - 1
7-91625031-TT-AG c.847_848delinsAG p.L283R Missense 7/50 - 1
7-91625037-G-T c.853G>T p.E285* Nonsense 7/50 - 1
7-91625043-T-C c.859T>C p.Y287H Missense 7/50 - 1
7-91625045-T-A c.861T>A p.Y287* Nonsense 7/50 - 1
7-91625049-A-G c.865A>G p.K289E Missense 7/50 - 1
7-91625051-A-AT c.867_868insT p.K290* Nonsense 7/50 - 1
7-91625048-G-GA c.869dup p.K291Efs*9 Frameshift 7/50 - 1
7-91625054-G-A c.870G>A p.K290= Synonymous 7/50 - 2
7-91625056-A-C c.872A>C p.K291T Missense 7/50 - 1
7-91625058-G-T c.874G>T p.E292* Nonsense 7/50 - 1
7-91625055-AAAG-A c.876_878del p.E292del InFrameDeletion 7/50 - 1
7-91625058-G-GA c.876dup p.D293Rfs*7 Frameshift 7/50 - 1
7-91625061-G-T c.877G>T p.D293Y Missense 7/50 - 1
7-91625062-A-G c.878A>G p.D293G Missense 7/50 - 1
7-91625064-T-C c.880T>C p.F294L Missense 7/50 - 2
7-91625066-C-G c.882C>G p.F294L Missense 7/50 - 2
7-91625066-C-A c.882C>A p.F294L Missense 7/50 - 5
7-91625067-A-G c.883A>G p.T295A Missense 7/50 - 3
7-91625067-A-AC c.884dup p.M296Nfs*4 Frameshift 7/50 - 1
7-91625072-G-A c.888G>A p.M296I Missense 7/50 - 1
7-91625072-G-C c.888G>C p.M296I Missense 7/50 - 1
7-91625072-G-T c.888G>T p.M296I Missense 7/50 - 1
7-91625073-C-G c.889C>G p.Q297E Missense 7/50 - 1
7-91625079-AG-GC c.895_896delinsGC p.S299A Missense 7/50 - 1
7-91625079-A-T c.895A>T p.S299C Missense 7/50 - 1
7-91625085-T-A c.901T>A p.L301M Missense 7/50 - 1
7-91625086-T-C c.902T>C p.L301S Missense 7/50 - 1
7-91625087-G-C c.903G>C p.L301F Missense 7/50 - 1
7-91625088-C-T c.904C>T p.Q302* Nonsense 7/50 - 1
7-91625092-A-T c.908A>T p.E303V Missense 7/50 - 1
7-91625097-A-T c.913A>T p.I305F Missense 7/50 - 1
7-91625105-A-C c.921A>C p.V307= Synonymous 7/50 - 1
7-91625105-A-G c.921A>G p.V307= Synonymous 7/50 - 1
7-91625105-A-T c.921A>T p.V307= Synonymous 7/50 - 1
7-91625107-A-C c.923A>C p.Y308S Missense 7/50 - 2
7-91625109-G-A c.925G>A p.E309K Missense 7/50 - 1
7-91625110-A-C c.926A>C p.E309A Missense 7/50 - 1
7-91625114-G-T c.930G>T p.M310I Missense 7/50 - 1
7-91626953-A-G c.930+1839A>G - IntronicSNV - 7/49 1
7-91629984-T-G c.931-178T>G - IntronicSNV - 7/49 1
7-91630001-G-C c.931-161G>C - IntronicSNV - 7/49 2
7-91630162-G-A c.931G>A p.E311K Missense 8/50 - 2
7-91630163-A-C c.932A>C p.E311A Missense 8/50 - 1
7-91630163-A-G c.932A>G p.E311G Missense 8/50 - 1
7-91630165-C-A c.934C>A p.Q312K Missense 8/50 - 1
7-91630168-G-T c.937G>T p.D313Y Missense 8/50 - 1
7-91630169-A-T c.938A>T p.D313V Missense 8/50 - 2
7-91630170-T-C c.939T>C p.D313= Synonymous 8/50 - 1
7-91630170-TA-T c.945del p.V316* Frameshift 8/50 - 1
7-91630177-G-T c.946G>T p.V316L Missense 8/50 - 1
7-91630182-A-C c.951A>C p.E317D Missense 8/50 - 1
7-91630182-A-T c.951A>T p.E317D Missense 8/50 - 1
7-91630180-GA-G c.953del p.N318Tfs*17 Frameshift 8/50 - 1
7-91630185-C-T c.954C>T p.N318= Synonymous 8/50 - 1
7-91630187-C-A c.956C>A p.S319* Nonsense 8/50 - 1
7-91630187-C-G c.956C>G p.S319* Nonsense 8/50 - 1
7-91630188-A-C c.957A>C p.S319= Synonymous 8/50 - 1
7-91630195-G-A c.964G>A p.E322K Missense 8/50 - 1
7-91630198-G-T c.967G>T p.E323* Nonsense 8/50 - 1
7-91630202-T-C c.971T>C p.I324T Missense 8/50 - 4
7-91630205-CA-C c.974del p.Q325Rfs*10 Frameshift 8/50 - 1
7-91630207-G-A c.976G>A p.E326K Missense 8/50 - 1
7-91630211-A-G c.980A>G p.K327R Missense 8/50 - 2
7-91630212-G-C c.981G>C p.K327N Missense 8/50 - 1
7-91630212-G-T c.981G>T p.K327N Missense 8/50 - 2
7-91630217-CA-TG c.986_987inv p.T329M Missense 8/50 - 1
7-91630220-T-A c.989T>A p.I330N Missense 8/50 - 4
7-91630223-T-A c.992T>A p.I331N Missense 8/50 - 1
7-91630223-T-C c.992T>C p.I331T Missense 8/50 - 2
7-91630225-G-C c.994G>C p.E332Q Missense 8/50 - 1
7-91630226-A-C c.995A>C p.E332A Missense 8/50 - 1
7-91630232-T-C c.1001T>C p.L334S Missense 8/50 - 1
7-91630234-A-G c.1003A>G p.N335D Missense 8/50 - 1
7-91630239-A-G c.1008A>G p.T336= Synonymous 8/50 - 1
7-91630249-G-T c.1018G>T p.E340* Nonsense 8/50 - 1
7-91630251-A-C c.1020A>C p.E340D Missense 8/50 - 1
7-91630251-A-G c.1020A>G p.E340= Synonymous 8/50 - 1
7-91630251-A-T c.1020A>T p.E340D Missense 8/50 - 1
7-91630252-G-A c.1021G>A p.E341K Missense 8/50 - 1
7-91630253-A-T c.1022A>T p.E341V Missense 8/50 - 2
7-91630255-GA-G c.1028del p.K343Rfs*6 Frameshift 8/50 - 1
7-91630260-G-C c.1029G>C p.K343N Missense 8/50 - 4
7-91630260-G-T c.1029G>T p.K343N Missense 8/50 - 5
7-91630264-A-G c.1033A>G p.T345A Missense 8/50 - 1
7-91630265-C-G c.1034C>G p.T345S Missense 8/50 - 1
7-91630265-C-T c.1034C>T p.T345I Missense 8/50 - 1
7-91630267-C-T c.1036C>T p.L346F Missense 8/50 - 1
7-91630270-G-C c.1039G>C p.E347Q Missense 8/50 - 1
7-91630272-G-C c.1041G>C p.E347D Missense 8/50 - 1
7-91630276-A-G c.1045A>G p.K349E Missense 8/50 - 1
7-91630284-A-G c.1053A>G p.K351= Synonymous 8/50 - 2
7-91630291-A-T c.1060A>T p.T354S Missense 8/50 - 2
7-91630292-C-G c.1061C>G p.T354S Missense 8/50 - 2
7-91630294-G-A c.1063G>A p.A355T Missense 8/50 - 1
7-91630294-G-T c.1063G>T p.A355S Missense 8/50 - 1
7-91630297-G-A c.1066G>A p.D356N Missense 8/50 - 1
7-91630297-G-T c.1066G>T p.D356Y Missense 8/50 - 1
7-91630298-A-T c.1067A>T p.D356V Missense 8/50 - 1
7-91630310-G-C c.1079G>C p.G360A Missense 8/50 - 1
7-91630312-G-T c.1081G>T p.E361* Nonsense 8/50 - 3
7-91630317-A-C c.1086A>C p.L362F Missense 8/50 - 1
7-91630317-A-T c.1086A>T p.L362F Missense 8/50 - 1
7-91630321-G-A c.1090G>A p.E364K Missense 8/50 - 1
7-91630325-A-C c.1094A>C p.Q365P Missense 8/50 - 1
7-91630325-A-G c.1094A>G p.Q365R Missense 8/50 - 1
7-91630326-G-C c.1095G>C p.Q365H Missense 8/50 - 2
7-91630326-G-T c.1095G>T p.Q365H Missense 8/50 - 1
7-91630327-A-G c.1096A>G p.I366V Missense 8/50 - 2
7-91630329-T-A c.1098T>A p.I366= Synonymous 8/50 - 1
7-91630329-T-C c.1098T>C p.I366= Synonymous 8/50 - 1
7-91630330-G-A c.1099G>A p.V367M Missense 8/50 - 4
7-91630330-G-C c.1099G>C p.V367L Missense 8/50 - 1
7-91630330-G-T c.1099G>T p.V367L Missense 8/50 - 1
7-91630340-A-G c.1109A>G p.N370S Missense 8/50 - 1
7-91630341-C-A c.1110C>A p.N370K Missense 8/50 - 1
7-91630345-G-A c.1114G>A p.E372K Missense 8/50 - 1
7-91630345-G-C c.1114G>C p.E372Q Missense 8/50 - 1
7-91630347-A-C c.1116A>C p.E372D Missense 8/50 - 1
7-91630347-A-G c.1116A>G p.E372= Synonymous 8/50 - 1
7-91630347-A-T c.1116A>T p.E372D Missense 8/50 - 1
7-91630352-A-G c.1121A>G p.K374R Missense 8/50 - 1
7-91630355-A-C c.1124A>C p.N375T Missense 8/50 - 2
7-91630356-C-T c.1125C>T p.N375= Synonymous 8/50 - 1
7-91630359-G-A c.1128G>A p.M376I Missense 8/50 - 2
7-91630359-G-C c.1128G>C p.M376I Missense 8/50 - 1
7-91630359-G-T c.1128G>T p.M376I Missense 8/50 - 1
7-91630363-TT-CC c.1132_1133delinsCC p.L378P Missense 8/50 - 1
7-91630364-T-A c.1133T>A p.L378* Nonsense 8/50 - 1
7-91630364-T-G c.1133T>G p.L378* Nonsense 8/50 - 1
7-91630368-G-A c.1137G>A p.E379= Synonymous 8/50 - 1
7-91630371-G-A c.1140G>A p.L380= Synonymous 8/50 - 1
7-91630373-CT-TG c.1142_1143delinsTG p.T381M Missense 8/50 - 1
7-91630378-TC-AA c.1147_1148delinsAA p.S383N Missense 8/50 - 2
7-91630383-G-A c.1152G>A p.K384= Synonymous 8/50 - 1
7-91630387-A-G c.1156A>G p.K386E Missense 8/50 - 2
7-91630389-A-C c.1158A>C p.K386N Missense 8/50 - 2
7-91630389-A-T c.1158A>T p.K386N Missense 8/50 - 4
7-91630390-G-C c.1159G>C p.E387Q Missense 8/50 - 1
7-91630393-AG-CT c.1162_1163inv p.R388L Missense 8/50 - 1
7-91630394-G-A c.1163G>A p.R388K Missense 8/50 - 3
7-91630392-AAGAC-A c.1164_1167del p.R388Sfs*6 Frameshift 8/50 - 2
7-91630396-C-T c.1165C>T p.Q389* Nonsense 8/50 - 1
7-91630399-T-C c.1168T>C p.S390P Missense 8/50 - 2
7-91630400-C-T c.1169C>T p.S390F Missense 8/50 - 1
7-91630402-TC-AT c.1171_1172delinsAT p.S391I Missense 8/50 - 1
7-91630402-TC-CG c.1171_1172delinsCG p.S391R Missense 8/50 - 1
7-91630405-G-A c.1174G>A p.E392K Missense 8/50 - 2
7-91630408-G-T c.1177G>T p.E393* Nonsense 8/50 - 1
7-91630414-A-C c.1183A>C p.K395Q Missense 8/50 - 1
7-91630420-T-C c.1189T>C p.L397= Synonymous 8/50 - 1
7-91630420-TT-CA c.1189_1190delinsCA p.L397Q Missense 8/50 - 1
7-91630422-A-G c.1191A>G p.L397= Synonymous 8/50 - 1
7-91630426-G-A c.1195G>A p.G399R Missense 8/50 - 2
7-91630426-G-C c.1195G>C p.G399R Missense 8/50 - 2
7-91630432-G-A c.1201G>A p.V401I Missense 8/50 - 1
7-91630434-C-A c.1203C>A p.V401= Synonymous 8/50 - 1
7-91630434-C-G c.1203C>G p.V401= Synonymous 8/50 - 1
7-91630434-C-T c.1203C>T p.V401= Synonymous 8/50 - 2
7-91630435-G-A c.1204G>A p.E402K Missense 8/50 - 6
7-91630436-A-G c.1205A>G p.E402G Missense 8/50 - 1
7-91630438-G-A c.1207G>A p.E403K Missense 8/50 - 5
7-91630438-GA-G c.1209del p.E403Dfs*16 Frameshift 8/50 - 1
7-91630441-C-CT c.1212dup p.Q405Sfs*6 Frameshift 8/50 - 1
7-91630444-C-T c.1213C>T p.Q405* Nonsense 8/50 - 1
7-91630445-A-G c.1214A>G p.Q405R Missense 8/50 - 1
7-91630446-G-GT c.1215_1216insT p.K406* Nonsense 8/50 - 1
7-91630449-G-A c.1218G>A p.K406= Synonymous 8/50 - 1
7-91630450-AGA-CAT c.1219_1221delinsCAT p.R407H Missense 8/50 - 2
7-91630451-G-A c.1220G>A p.R407K Missense 8/50 - 2
7-91630451-G-T c.1220G>T p.R407I Missense 8/50 - 2
7-91630454-A-G c.1223A>G p.N408S Missense 8/50 - 2
7-91630456-C-G c.1225C>G p.H409D Missense 8/50 - 2
7-91630458-T-A c.1227T>A p.H409Q Missense 8/50 - 1
7-91630458-T-G c.1227T>G p.H409Q Missense 8/50 - 1
7-91630463-A-C c.1232A>C p.D411A Missense 8/50 - 1
7-91630467-C-T c.1236C>T p.S412= Synonymous 8/50 - 1
7-91630469-A-G c.1238A>G p.Q413R Missense 8/50 - 3
7-91630470-G-A c.1239G>A p.Q413= Synonymous 8/50 - 1
7-91630470-G-C c.1239G>C p.Q413H Missense 8/50 - 1
7-91630473-C-T c.1242C>T p.F414= Synonymous 8/50 - 6
7-91630474-G-A c.1243G>A p.E415K Missense 8/50 - 2
7-91630480-G-A c.1249G>A p.D417N Missense 8/50 - 1
7-91630481-A-G c.1250A>G p.D417G Missense 8/50 - 1
7-91630483-A-G c.1252A>G p.I418V Missense 8/50 - 1
7-91630484-T-C c.1253T>C p.I418T Missense 8/50 - 3
7-91630486-G-T c.1255G>T p.V419L Missense 8/50 - 1
7-91630487-T-C c.1256T>C p.V419A Missense 8/50 - 4
7-91630487-T-G c.1256T>G p.V419G Missense 8/50 - 1
7-91630489-C-T c.1258C>T p.Q420* Nonsense 8/50 - 1
7-91630490-A-G c.1259A>G p.Q420R Missense 8/50 - 1
7-91630492-C-G c.1261C>G p.R421G Missense 8/50 - 1
7-91630493-G-A c.1262G>A p.R421Q Missense 8/50 - 4
7-91630497-G-A c.1266G>A p.M422I Missense 8/50 - 1
7-91630498-G-A c.1267G>A p.E423K Missense 8/50 - 2
7-91630501-C-A c.1270C>A p.Q424K Missense 8/50 - 1
7-91630508-CA-TG c.1277_1278inv p.T426M Missense 8/50 - 1
7-91630511-A-T c.1280A>T p.Q427L Missense 8/50 - 1
7-91630519-T-C c.1288T>C p.L430= Synonymous 8/50 - 2
7-91630521-A-G c.1290A>G p.L430= Synonymous 8/50 - 2
7-91630520-T-A c.1289T>A p.L430* Nonsense 8/50 - 1
7-91630522-G-A c.1291G>A p.E431K Missense 8/50 - 1
7-91630522-G-C c.1291G>C p.E431Q Missense 8/50 - 1
7-91630524-A-C c.1293A>C p.E431D Missense 8/50 - 1
7-91630525-C-G c.1294C>G p.Q432E Missense 8/50 - 1
7-91630529-T-G c.1298T>G p.L433R Missense 8/50 - 1
7-91630531-CGG-TGT c.1300_1302delinsTGT p.R434C Missense 8/50 - 1
7-91630531-CG-TA c.1300_1301delinsTA p.R434* Nonsense 8/50 - 1
7-91630531-C-T c.1300C>T p.R434W Missense 8/50 - 5
7-91630532-G-A c.1301G>A p.R434Q Missense 8/50 - 3
7-91630532-GG-AT c.1301_1302delinsAT p.R434H Missense 8/50 - 1
7-91630534-G-A c.1303G>A p.A435T Missense 8/50 - 2
7-91630540-C-A c.1309C>A p.L437M Missense 8/50 - 1
7-91630544-A-G c.1313A>G p.D438G Missense 8/50 - 1
7-91630547-A-C c.1316A>C p.E439A Missense 8/50 - 1
7-91630550-T-G c.1319T>G p.M440R Missense 8/50 - 1
7-91630551-G-A c.1320G>A p.M440I Missense 8/50 - 1
7-91630551-G-C c.1320G>C p.M440I Missense 8/50 - 1
7-91630551-G-T c.1320G>T p.M440I Missense 8/50 - 1
7-91630556-G-A c.1325G>A p.G442E Missense 8/50 - 1
7-91630556-G-T c.1325G>T p.G442V Missense 8/50 - 1
7-91630560-AG-A c.1329del p.Q443Hfs*3 Frameshift 8/50 - 1
7-91630560-G-C c.1329G>C p.Q443H Missense 8/50 - 1
7-91630560-G-T c.1329G>T p.Q443H Missense 8/50 - 1
7-91630561-C-G c.1330C>G p.Q444E Missense 8/50 - 1
7-91630563-G-A c.1332G>A p.Q444= Synonymous 8/50 - 1
7-91630565-T-C c.1334T>C p.I445T Missense 8/50 - 1
7-91630567-G-A c.1336G>A p.V446M Missense 8/50 - 1
7-91630570-C-G c.1339C>G p.Q447E Missense 8/50 - 1
7-91630570-C-T c.1339C>T p.Q447* Nonsense 8/50 - 2
7-91630576-A-G c.1345A>G p.K449E Missense 8/50 - 1
7-91630581-A-T c.1350A>T p.Q450H Missense 8/50 - 1
7-91630582-G-A c.1351G>A p.E451K Missense 8/50 - 1
7-91630582-G-T c.1351G>T p.E451* Nonsense 8/50 - 1
7-91630584-A-C c.1353A>C p.E451D Missense 8/50 - 1
7-91630584-A-T c.1353A>T p.E451D Missense 8/50 - 1
7-91630591-AGA-CAT c.1360_1362delinsCAT p.R454H Missense 8/50 - 1
7-91630591-AGA-TGG c.1360_1362delinsTGG p.R454W Missense 8/50 - 1
7-91630592-G-C c.1361G>C p.R454T Missense 8/50 - 1
7-91630594-C-T c.1363C>T p.Q455* Nonsense 8/50 - 1
7-91630599-C-T c.1368C>T p.H456= Synonymous 8/50 - 1
7-91630601-T-C c.1370T>C p.M457T Missense 8/50 - 4
7-91630603-G-C c.1372G>C p.A458P Missense 8/50 - 7
7-91630603-G-T c.1372G>T p.A458S Missense 8/50 - 1
7-91630604-C-G c.1373C>G p.A458G Missense 8/50 - 1
7-91630606-C-G c.1375C>G p.Q459E Missense 8/50 - 2
7-91630609-A-G c.1378A>G p.M460V Missense 8/50 - 1
7-91630611-G-C c.1380G>C p.M460I Missense 8/50 - 1
7-91630612-G-C c.1381G>C p.E461Q Missense 8/50 - 1
7-91630612-G-T c.1381G>T p.E461* Nonsense 8/50 - 1
7-91630613-GA-G c.1382del p.E461Gfs*3 Frameshift 8/50 - 1
7-91630614-G-A c.1383G>A p.E461= Synonymous 8/50 - 1
7-91630614-G-T c.1383G>T p.E461D Missense 8/50 - 1
7-91630615-G-A c.1384G>A p.E462K Missense 8/50 - 1
7-91630616-A-C c.1385A>C p.E462A Missense 8/50 - 1
7-91630620-G-A c.1389G>A p.M463I Missense 8/50 - 16
7-91630620-G-C c.1389G>C p.M463I Missense 8/50 - 16
7-91630620-G-T c.1389G>T p.M463I Missense 8/50 - 77
7-91630622-A-C c.1391A>C p.K464T Missense 8/50 - 1
7-91630622-A-G c.1391A>G p.K464R Missense 8/50 - 1
7-91630624-A-T c.1393A>T p.T465S Missense 8/50 - 1
7-91630627-C-A c.1396C>A p.R466= Synonymous 8/50 - 1
7-91630627-C-T c.1396C>T p.R466W Missense 8/50 - 1
7-91630629-G-C c.1398G>C p.R466= Synonymous 8/50 - 1
7-91630629-G-T c.1398G>T p.R466= Synonymous 8/50 - 1
7-91630628-G-A c.1397G>A p.R466Q Missense 8/50 - 6
7-91630628-GG-AT c.1397_1398delinsAT p.R466H Missense 8/50 - 3
7-91630629-G-A c.1398G>A p.R466= Synonymous 8/50 - 2
7-91630631-A-AT c.1401dup p.K468* Nonsense 8/50 - 2
7-91630639-G-A c.1408G>A p.E470K Missense 8/50 - 1
7-91630641-A-C c.1410A>C p.E470D Missense 8/50 - 1
7-91630641-A-T c.1410A>T p.E470D Missense 8/50 - 1
7-91630644-G-A c.1413G>A p.M471I Missense 8/50 - 3
7-91630644-G-C c.1413G>C p.M471I Missense 8/50 - 3
7-91630644-G-T c.1413G>T p.M471I Missense 8/50 - 3
7-91630646-A-G c.1415A>G p.E472G Missense 8/50 - 1
7-91630656-A-C c.1425A>C p.L475F Missense 8/50 - 1
7-91630657-A-T c.1426A>T p.R476W Missense 8/50 - 1
7-91630658-G-A c.1427G>A p.R476K Missense 8/50 - 2
7-91630663-T-A c.1432T>A p.Y478N Missense 8/50 - 1
7-91630673-T-A c.1442T>A p.I481N Missense 8/50 - 1
7-91630676-CA-TG c.1445_1446inv p.T482M Missense 8/50 - 1
7-91630684-G-A c.1453G>A p.E485K Missense 8/50 - 4
7-91630687-G-A c.1456G>A p.D486N Missense 8/50 - 1
7-91630687-G-T c.1456G>T p.D486Y Missense 8/50 - 1
7-91630689-T-A c.1458T>A p.D486E Missense 8/50 - 1
7-91630689-T-G c.1458T>G p.D486E Missense 8/50 - 1
7-91630691-A-G c.1460A>G p.Q487R Missense 8/50 - 1
7-91630692-G-A c.1461G>A p.Q487= Synonymous 8/50 - 1
7-91630693-A-C c.1462A>C p.I488L Missense 8/50 - 1
7-91630693-A-T c.1462A>T p.I488L Missense 8/50 - 1
7-91630694-T-A c.1463T>A p.I488K Missense 8/50 - 1
7-91630702-A-C c.1471A>C p.M491L Missense 8/50 - 3
7-91630702-A-G c.1471A>G p.M491V Missense 8/50 - 1
7-91630703-T-C c.1472T>C p.M491T Missense 8/50 - 1
7-91630708-G-A c.1477G>A p.V493M Missense 8/50 - 1
7-91630708-G-C c.1477G>C p.V493L Missense 8/50 - 1
7-91630708-G-T c.1477G>T p.V493L Missense 8/50 - 1
7-91630713-A-C c.1482A>C p.A494= Synonymous 8/50 - 1
7-91630713-A-G c.1482A>G p.A494= Synonymous 8/50 - 1
7-91630713-A-T c.1482A>T p.A494= Synonymous 8/50 - 1
7-91630716-A-C c.1485A>C p.I495= Synonymous 8/50 - 1
7-91630716-A-T c.1485A>T p.I495= Synonymous 8/50 - 1
7-91630720-G-T c.1489G>T p.E497* Nonsense 8/50 - 2
7-91630722-A-C c.1491A>C p.E497D Missense 8/50 - 1
7-91630722-A-T c.1491A>T p.E497D Missense 8/50 - 1
7-91630729-A-T c.1498A>T p.I500L Missense 8/50 - 1
7-91630731-A-C c.1500A>C p.I500= Synonymous 8/50 - 1
7-91630731-A-T c.1500A>T p.I500= Synonymous 8/50 - 1
7-91630734-A-G c.1503A>G p.K501= Synonymous 8/50 - 1
7-91630735-T-G c.1504T>G p.L502V Missense 8/50 - 1
7-91630742-A-G c.1511A>G p.D504G Missense 8/50 - 1
7-91630748-ACT-A c.1521_1522del p.Q508Kfs*23 Frameshift 8/50 - 1
7-91630753-C-A c.1522C>A p.Q508K Missense 8/50 - 1
7-91630755-A-C c.1524A>C p.Q508H Missense 8/50 - 1
7-91630755-A-T c.1524A>T p.Q508H Missense 8/50 - 1
7-91630758-G-C c.1527G>C p.K509N Missense 8/50 - 1
7-91630758-G-T c.1527G>T p.K509N Missense 8/50 - 1
7-91630760-A-G c.1529A>G p.E510G Missense 8/50 - 1
7-91630762-A-G c.1531A>G p.K511E Missense 8/50 - 1
7-91630764-A-G c.1533A>G p.K511= Synonymous 8/50 - 2
7-91630766-T-C c.1535T>C p.L512P Missense 8/50 - 1
7-91630766-T-G c.1535T>G p.L512R Missense 8/50 - 1
7-91630767-C-A c.1536C>A p.L512= Synonymous 8/50 - 3
7-91630767-C-G c.1536C>G p.L512= Synonymous 8/50 - 3
7-91630767-C-T c.1536C>T p.L512= Synonymous 8/50 - 6
7-91630769-A-G c.1538A>G p.K513R Missense 8/50 - 1
7-91630769-A-T c.1538A>T p.K513M Missense 8/50 - 2
7-91630771-G-A c.1540G>A p.E514K Missense 8/50 - 5
7-91630774-G-A c.1543G>A p.E515K Missense 8/50 - 1
7-91630780-G-C c.1549G>C p.G517R Missense 8/50 - 1
7-91630783-CTA-TTT c.1552_1554delinsTTT p.L518F Missense 8/50 - 1
7-91630784-T-C c.1553T>C p.L518P Missense 8/50 - 4
7-91630795-G-C c.1564G>C p.E522Q Missense 8/50 - 1
7-91630801-TG-AC c.1570_1571delinsAC p.C524T Missense 8/50 - 1
7-91630804-GC-TG c.1573_1574delinsTG p.A525C Missense 8/50 - 1
7-91630806-T-A c.1575T>A p.A525= Synonymous 8/50 - 1
7-91630806-T-C c.1575T>C p.A525= Synonymous 8/50 - 1
7-91630806-T-G c.1575T>G p.A525= Synonymous 8/50 - 1
7-91630810-C-T c.1579C>T p.Q527* Nonsense 8/50 - 1
7-91630813-A-G c.1582A>G p.R528G Missense 8/50 - 1
7-91630813-AG-CA c.1582_1583delinsCA p.R528Q Missense 8/50 - 1
7-91630816-C-T c.1585C>T p.Q529* Nonsense 8/50 - 1
7-91630820-T-C c.1589T>C p.L530P Missense 8/50 - 2
7-91630822-G-A c.1591G>A p.E531K Missense 8/50 - 1
7-91630825-G-A c.1594G>A p.D532N Missense 8/50 - 1
7-91630830-T-A c.1599T>A p.L533= Synonymous 8/50 - 1
7-91630830-T-C c.1599T>C p.L533= Synonymous 8/50 - 1
7-91630830-T-G c.1599T>G p.L533= Synonymous 8/50 - 1
7-91630836-A-C c.1605A>C p.E535D Missense 8/50 - 2
7-91630836-A-T c.1605A>T p.E535D Missense 8/50 - 2
7-91630837-G-A c.1606G>A p.E536K Missense 8/50 - 1
7-91630842-G-T c.1611G>T p.L537F Missense 8/50 - 1
7-91630843-AGC-TGG c.1612_1614delinsTGG p.S538W Missense 8/50 - 1
7-91630846-T-C c.1615T>C p.F539L Missense 8/50 - 1
7-91630849-TCA-AAC c.1618_1620delinsAAC p.S540N Missense 8/50 - 1
7-91630850-C-A c.1619C>A p.S540* Nonsense 8/50 - 1
7-91630850-C-G c.1619C>G p.S540* Nonsense 8/50 - 1
7-91630850-C-T c.1619C>T p.S540L Missense 8/50 - 1
7-91630851-A-G c.1620A>G p.S540= Synonymous 8/50 - 1
7-91630852-AGG-TGT c.1621_1623delinsTGT p.R541C Missense 8/50 - 1
7-91630852-A-C c.1621A>C p.R541= Synonymous 8/50 - 2
7-91630854-G-A c.1623G>A p.R541= Synonymous 8/50 - 2
7-91630860-G-C c.1629G>C p.Q543H Missense 8/50 - 1
7-91630864-C-G c.1633C>G p.Q545E Missense 8/50 - 1
7-91630867-AGA-CAT c.1636_1638delinsCAT p.R546H Missense 8/50 - 2
7-91630868-G-A c.1637G>A p.R546K Missense 8/50 - 1
7-91630869-A-T c.1638A>T p.R546S Missense 8/50 - 1
7-91630873-A-G c.1642A>G p.R548G Missense 8/50 - 2
7-91630875-A-C c.1644A>C p.R548S Missense 8/50 - 1
7-91630875-A-T c.1644A>T p.R548S Missense 8/50 - 1
7-91630882-A-G c.1651A>G p.I551V Missense 8/50 - 3
7-91630884-A-C c.1653A>C p.I551= Synonymous 8/50 - 1
7-91630886-C-T c.1655C>T p.A552V Missense 8/50 - 1
7-91630897-A-C c.1666A>C p.S556R Missense 8/50 - 2
7-91630899-T-A c.1668T>A p.S556R Missense 8/50 - 2
7-91630899-T-G c.1668T>G p.S556R Missense 8/50 - 2
7-91630904-T-G c.1673T>G p.L558R Missense 8/50 - 1
7-91630908-T-A c.1677T>A p.N559K Missense 8/50 - 1
7-91630908-T-G c.1677T>G p.N559K Missense 8/50 - 1
7-91630912-G-A c.1681G>A p.A561T Missense 8/50 - 3
7-91630916-A-G c.1685A>G p.H562R Missense 8/50 - 2
7-91630915-CAT-C c.1686_1687del p.H562Qfs*4 Frameshift 8/50 - 1
7-91630917-T-A c.1686T>A p.H562Q Missense 8/50 - 1
7-91630917-T-G c.1686T>G p.H562Q Missense 8/50 - 2
7-91630919-A-T c.1688A>T p.K563M Missense 8/50 - 2
7-91630921-T-C c.1690T>C p.S564P Missense 8/50 - 2
7-91630924-C-T c.1693C>T p.L565F Missense 8/50 - 1
7-91630927-AG-TT c.1696_1697delinsTT p.S566F Missense 8/50 - 1
7-91630928-G-C c.1697G>C p.S566T Missense 8/50 - 1
7-91630930-A-G c.1699A>G p.T567A Missense 8/50 - 1
7-91630931-C-A c.1700C>A p.T567K Missense 8/50 - 1
7-91630931-C-T c.1700C>T p.T567I Missense 8/50 - 2
7-91630936-G-A c.1705G>A p.E569K Missense 8/50 - 1
7-91630939-G-C c.1708G>C p.D570H Missense 8/50 - 1
7-91630940-A-G c.1709A>G p.D570G Missense 8/50 - 1
7-91630942-T-C c.1711T>C p.L571= Synonymous 8/50 - 1
7-91630944-G-A c.1713G>A p.L571= Synonymous 8/50 - 1
7-91630945-A-C c.1714A>C p.K572Q Missense 8/50 - 1
7-91630945-A-G c.1714A>G p.K572E Missense 8/50 - 1
7-91630961-C-T c.1730C>T p.S577F Missense 8/50 - 3
7-91630962-T-A c.1731T>A p.S577= Synonymous 8/50 - 1
7-91630962-T-C c.1731T>C p.S577= Synonymous 8/50 - 1
7-91630962-T-G c.1731T>G p.S577= Synonymous 8/50 - 1
7-91630966-T-C c.1735T>C p.S579P Missense 8/50 - 1
7-91630968-T-A c.1737T>A p.S579= Synonymous 8/50 - 2
7-91630968-T-C c.1737T>C p.S579= Synonymous 8/50 - 2
7-91630968-T-G c.1737T>G p.S579= Synonymous 8/50 - 2
7-91630969-G-C c.1738G>C p.E580Q Missense 8/50 - 1
7-91630970-A-C c.1739A>C p.E580A Missense 8/50 - 4
7-91630973-C-T c.1742C>T p.S581F Missense 8/50 - 2
7-91630975-AGA-CAT c.1744_1746delinsCAT p.R582H Missense 8/50 - 1
7-91630980-G-A c.1749G>A p.K583= Synonymous 8/50 - 1
7-91630981-G-A c.1750G>A p.E584K Missense 8/50 - 1
7-91630984-C-A c.1753C>A p.L585I Missense 8/50 - 1
7-91630985-T-A c.1754T>A p.L585Q Missense 8/50 - 1
7-91630994-A-C c.1763A>C p.K588T Missense 8/50 - 1
7-91630999-G-A c.1768G>A p.E590K Missense 8/50 - 1
7-91631000-A-T c.1769A>T p.E590V Missense 8/50 - 1
7-91631002-G-A c.1771G>A p.A591T Missense 8/50 - 1
7-91631003-C-T c.1772C>T p.A591V Missense 8/50 - 1
7-91631005-G-C c.1774G>C p.E592Q Missense 8/50 - 1
7-91631018-A-G c.1787A>G p.Y596C Missense 8/50 - 1
7-91631024-T-C c.1793T>C p.I598T Missense 8/50 - 1
7-91631025-A-C c.1794A>C p.I598= Synonymous 8/50 - 1
7-91631025-A-T c.1794A>T p.I598= Synonymous 8/50 - 1
7-91631027-A-C c.1796A>C p.K599T Missense 8/50 - 1
7-91631024-TA-T c.1797del p.K599Nfs*5 Frameshift 8/50 - 1
7-91631031-T-A c.1800T>A p.L600= Synonymous 8/50 - 1
7-91631031-T-C c.1800T>C p.L600= Synonymous 8/50 - 1
7-91631031-T-G c.1800T>G p.L600= Synonymous 8/50 - 1
7-91631041-G-A c.1810G>A p.E604K Missense 8/50 - 1
7-91631041-G-C c.1810G>C p.E604Q Missense 8/50 - 1
7-91631041-G-T c.1810G>T p.E604* Nonsense 8/50 - 1
7-91631042-A-G c.1811A>G p.E604G Missense 8/50 - 1
7-91631047-G-C c.1816G>C p.E606Q Missense 8/50 - 1
7-91631047-G-T c.1816G>T p.E606* Nonsense 8/50 - 1
7-91631048-A-T c.1817A>T p.E606V Missense 8/50 - 1
7-91631050-A-G c.1819A>G p.K607E Missense 8/50 - 1
7-91631052-G-A c.1821G>A p.K607= Synonymous 8/50 - 1
7-91631053-A-C c.1822A>C p.N608H Missense 8/50 - 1
7-91631057-C-A c.1826C>A p.A609D Missense 8/50 - 1
7-91631057-C-T c.1826C>T p.A609V Missense 8/50 - 1
7-91631059-G-A c.1828G>A p.V610M Missense 8/50 - 1
7-91631060-T-C c.1829T>C p.V610A Missense 8/50 - 1
7-91631063-TAGAC-T c.1836_1839del p.D612Efs*10 Frameshift 8/50 - 1
7-91631068-AGA-TGT c.1837_1839delinsTGT p.R613C Missense 8/50 - 1
7-91631068-AG-CC c.1837_1838delinsCC p.R613P Missense 8/50 - 1
7-91631069-G-A c.1838G>A p.R613K Missense 8/50 - 3
7-91631075-C-A c.1844C>A p.A615D Missense 8/50 - 1
7-91631075-C-T c.1844C>T p.A615V Missense 8/50 - 1
7-91631077-G-A c.1846G>A p.E616K Missense 8/50 - 2
7-91631079-A-C c.1848A>C p.E616D Missense 8/50 - 1
7-91631079-A-T c.1848A>T p.E616D Missense 8/50 - 1
7-91631081-CA-GT c.1850_1851delinsGT p.S617C Missense 8/50 - 1
7-91631082-A-AT c.1851_1852insT p.Q618Sfs*4 Frameshift 8/50 - 1
7-91631083-C-G c.1852C>G p.Q618E Missense 8/50 - 1
7-91631083-C-T c.1852C>T p.Q618* Nonsense 8/50 - 1
7-91631084-A-G c.1853A>G p.Q618R Missense 8/50 - 1
7-91631084-A-T c.1853A>T p.Q618L Missense 8/50 - 1
7-91631086-G-C c.1855G>C p.E619Q Missense 8/50 - 1
7-91631089-G-A c.1858G>A p.A620T Missense 8/50 - 2
7-91631092-G-A c.1861G>A p.E621K Missense 8/50 - 1
7-91631094-AAT-A c.1863_1864del p.E621Dfs*11 Frameshift 8/50 - 2
7-91631095-TT-CC c.1864_1865delinsCC p.L622P Missense 8/50 - 2
7-91631097-A-C c.1866A>C p.L622F Missense 8/50 - 1
7-91631097-A-T c.1866A>T p.L622F Missense 8/50 - 1
7-91631099-A-T c.1868A>T p.E623V Missense 8/50 - 1
7-91631105-T-C c.1874T>C p.L625P Missense 8/50 - 5
7-91631108-G-A c.1877G>A p.R626K Missense 8/50 - 1
7-91631113-C-T c.1882C>T p.Q628* Nonsense 8/50 - 1
7-91631116-C-T c.1885C>T p.L629F Missense 8/50 - 1
7-91631120-T-G c.1889T>G p.L630R Missense 8/50 - 1
7-91631123-T-C c.1892T>C p.F631S Missense 8/50 - 1
7-91631131-G-A c.1900G>A p.E634K Missense 8/50 - 3
7-91631134-G-T c.1903G>T p.E635* Nonsense 8/50 - 1
7-91631137-G-A c.1906G>A p.E636K Missense 8/50 - 1
7-91631155-G-A c.1924G>A p.E642K Missense 8/50 - 2
7-91631161-T-G c.1930T>G p.L644V Missense 8/50 - 1
7-91631167-A-G c.1936A>G p.I646V Missense 8/50 - 2
7-91631170-G-A c.1939G>A p.E647K Missense 8/50 - 1
7-91631170-G-T c.1939G>T p.E647* Nonsense 8/50 - 1
7-91631176-C-T c.1945C>T p.R649* Nonsense 8/50 - 7
7-91631177-G-A c.1946G>A p.R649Q Missense 8/50 - 2
7-91631180-T-C c.1949T>C p.I650T Missense 8/50 - 1
7-91631182-A-C c.1951A>C p.N651H Missense 8/50 - 1
7-91631185-A-G c.1954A>G p.I652V Missense 8/50 - 1
7-91631186-T-C c.1955T>C p.I652T Missense 8/50 - 1
7-91631188-G-T c.1957G>T p.E653* Nonsense 8/50 - 1
7-91631200-G-C c.1969G>C p.D657H Missense 8/50 - 2
7-91631201-A-C c.1970A>C p.D657A Missense 8/50 - 1
7-91631206-T-A c.1975T>A p.L659I Missense 8/50 - 1
7-91631206-T-C c.1975T>C p.L659= Synonymous 8/50 - 2
7-91631208-A-G c.1977A>G p.L659= Synonymous 8/50 - 1
7-91631209-G-A c.1978G>A p.G660S Missense 8/50 - 4
7-91631212-A-C c.1981A>C p.I661L Missense 8/50 - 1
7-91631214-T-A c.1983T>A p.I661= Synonymous 8/50 - 1
7-91631214-T-C c.1983T>C p.I661= Synonymous 8/50 - 1
7-91631215-C-T c.1984C>T p.H662Y Missense 8/50 - 1
7-91631216-A-G c.1985A>G p.H662R Missense 8/50 - 1
7-91631217-C-A c.1986C>A p.H662Q Missense 8/50 - 1
7-91631217-C-G c.1986C>G p.H662Q Missense 8/50 - 1
7-91631221-A-T c.1990A>T p.K664* Nonsense 8/50 - 1
7-91631222-A-G c.1991A>G p.K664R Missense 8/50 - 1
7-91631226-G-C c.1995G>C p.Q665H Missense 8/50 - 1
7-91631226-G-T c.1995G>T p.Q665H Missense 8/50 - 1
7-91631230-A-T c.1999A>T p.I667L Missense 8/50 - 1
7-91631233-G-A c.2002G>A p.D668N Missense 8/50 - 1
7-91631233-G-C c.2002G>C p.D668H Missense 8/50 - 1
7-91631234-A-C c.2003A>C p.D668A Missense 8/50 - 1
7-91631243-A-G c.2012A>G p.Q671R Missense 8/50 - 2
7-91631248-G-A c.2017G>A p.E673K Missense 8/50 - 1
7-91631254-A-G c.2023A>G p.S675G Missense 8/50 - 1
7-91631254-A-T c.2023A>T p.S675C Missense 8/50 - 1
7-91631257-C-G c.2026C>G p.Q676E Missense 8/50 - 1
7-91631258-A-G c.2027A>G p.Q676R Missense 8/50 - 2
7-91631269-AC-TG c.2038_2039delinsTG p.T680C Missense 8/50 - 1
7-91631270-C-G c.2039C>G p.T680S Missense 8/50 - 1
7-91631273-T-C c.2042T>C p.M681T Missense 8/50 - 1
7-91631274-G-A c.2043G>A p.M681I Missense 8/50 - 1
7-91631281-G-C c.2050G>C p.E684Q Missense 8/50 - 1
7-91631286-G-C c.2055G>C p.K685N Missense 8/50 - 1
7-91631286-G-T c.2055G>T p.K685N Missense 8/50 - 1
7-91631287-G-A c.2056G>A p.D686N Missense 8/50 - 1
7-91631287-G-T c.2056G>T p.D686Y Missense 8/50 - 1
7-91631291-A-G c.2060A>G p.N687S Missense 8/50 - 1
7-91631292-T-A c.2061T>A p.N687K Missense 8/50 - 1
7-91631292-T-G c.2061T>G p.N687K Missense 8/50 - 1
7-91631295-G-C c.2064G>C p.L688F Missense 8/50 - 1
7-91631295-G-T c.2064G>T p.L688F Missense 8/50 - 1
7-91631314-T-C c.2083T>C p.L695= Synonymous 8/50 - 1
7-91631316-A-G c.2085A>G p.L695= Synonymous 8/50 - 1
7-91631315-T-C c.2084T>C p.L695S Missense 8/50 - 1
7-91631323-G-T c.2092G>T p.E698* Nonsense 8/50 - 1
7-91631330-C-G c.2099C>G p.S700* Nonsense 8/50 - 1
7-91631332-A-G c.2101A>G p.K701E Missense 8/50 - 1
7-91631333-A-C c.2102A>C p.K701T Missense 8/50 - 1
7-91631338-A-C c.2107A>C p.K703Q Missense 8/50 - 1
7-91631336-TA-T c.2109del p.D704Ifs*7 Frameshift 8/50 - 1
7-91631341-G-A c.2110G>A p.D704N Missense 8/50 - 1
7-91631344-T-G c.2113T>G p.L705V Missense 8/50 - 2
7-91631350-C-T c.2119C>T p.Q707* Nonsense 8/50 - 1
7-91631352-G-C c.2121G>C p.Q707H Missense 8/50 - 2
7-91631352-G-T c.2121G>T p.Q707H Missense 8/50 - 3
7-91631354-C-A c.2123C>A p.S708Y Missense 8/50 - 1
7-91631354-C-T c.2123C>T p.S708F Missense 8/50 - 1
7-91631364-T-C c.2133T>C p.N711= Synonymous 8/50 - 1
7-91631365-T-C c.2134T>C p.S712P Missense 8/50 - 1
7-91631372-C-T c.2141C>T p.S714L Missense 8/50 - 1
7-91631373-A-G c.2142A>G p.S714= Synonymous 8/50 - 1
7-91631383-A-T c.2152A>T p.T718S Missense 8/50 - 2
7-91631384-C-G c.2153C>G p.T718S Missense 8/50 - 2
7-91631386-C-G c.2155C>G p.L719V Missense 8/50 - 1
7-91631386-C-T c.2155C>T p.L719F Missense 8/50 - 1
7-91631387-TTCAAA-T c.2161_2165del p.I721* Frameshift 8/50 - 1
7-91631392-A-G c.2161A>G p.I721V Missense 8/50 - 1
7-91631396-A-G c.2165A>G p.N722S Missense 8/50 - 1
7-91631398-G-T c.2167G>T p.E723* Nonsense 8/50 - 2
7-91631401-C-A c.2170C>A p.L724I Missense 8/50 - 1
7-91631402-T-G c.2171T>G p.L724R Missense 8/50 - 1
7-91631404-C-T c.2173C>T p.Q725* Nonsense 8/50 - 3
7-91631410-G-C c.2179G>C p.E727Q Missense 8/50 - 1
7-91631410-G-T c.2179G>T p.E727* Nonsense 8/50 - 1
7-91631413-A-G c.2182A>G p.I728V Missense 8/50 - 1
7-91631425-A-AG c.2195dup p.Q733Tfs*10 Frameshift 8/50 - 1
7-91631425-A-C c.2194A>C p.R732= Synonymous 8/50 - 1
7-91631427-A-G c.2196A>G p.R732= Synonymous 8/50 - 1
7-91631430-A-C c.2199A>C p.Q733H Missense 8/50 - 1
7-91631430-A-T c.2199A>T p.Q733H Missense 8/50 - 1
7-91631431-G-A c.2200G>A p.E734K Missense 8/50 - 1
7-91631432-A-T c.2201A>T p.E734V Missense 8/50 - 1
7-91631437-A-G c.2206A>G p.K736E Missense 8/50 - 1
7-91631439-A-G c.2208A>G p.K736= Synonymous 8/50 - 1
7-91631447-G-C c.2216G>C p.G739A Missense 8/50 - 1
7-91631454-T-A c.2223T>A p.L741= Synonymous 8/50 - 1
7-91631454-T-C c.2223T>C p.L741= Synonymous 8/50 - 1
7-91631454-T-G c.2223T>G p.L741= Synonymous 8/50 - 1
7-91631455-G-A c.2224G>A p.E742K Missense 8/50 - 1
7-91631460-A-G c.2229A>G p.Q743= Synonymous 8/50 - 3
7-91631461-G-A c.2230G>A p.E744K Missense 8/50 - 5
7-91631461-G-C c.2230G>C p.E744Q Missense 8/50 - 1
7-91631463-A-G c.2232A>G p.E744= Synonymous 8/50 - 1
7-91631466-T-A c.2235T>A p.V745= Synonymous 8/50 - 1
7-91631470-G-A c.2239G>A p.E747K Missense 8/50 - 2
7-91631470-G-T c.2239G>T p.E747* Nonsense 8/50 - 1
7-91631472-A-C c.2241A>C p.E747D Missense 8/50 - 4
7-91631472-A-T c.2241A>T p.E747D Missense 8/50 - 3
7-91631476-C-T c.2245C>T p.Q749* Nonsense 8/50 - 1
7-91631482-A-G c.2251A>G p.K751E Missense 8/50 - 1
7-91631485-A-C c.2254A>C p.T752P Missense 8/50 - 1
7-91631495-T-A c.2264T>A p.L755* Nonsense 8/50 - 1
7-91631495-T-G c.2264T>G p.L755* Nonsense 8/50 - 1
7-91631496-A-C c.2265A>C p.L755F Missense 8/50 - 1
7-91631496-A-G c.2265A>G p.L755= Synonymous 8/50 - 2
7-91631495-TAG-T c.2266_2267del p.E756Kfs*9 Frameshift 8/50 - 5
7-91631497-G-A c.2266G>A p.E756K Missense 8/50 - 1
7-91631497-G-C c.2266G>C p.E756Q Missense 8/50 - 3
7-91631501-A-T c.2270A>T p.K757I Missense 8/50 - 1
7-91631502-A-G c.2271A>G p.K757= Synonymous 8/50 - 1
7-91631507-T-C c.2276T>C p.M759T Missense 8/50 - 3
7-91631507-T-G c.2276T>G p.M759R Missense 8/50 - 1
7-91631509-A-G c.2278A>G p.K760E Missense 8/50 - 1
7-91631509-AAGGAAAAAG-A c.2281_2289del p.E761_E763del InFrameDeletion 8/50 - 1
7-91631515-A-G c.2284A>G p.K762E Missense 8/50 - 1
7-91631512-GA-G c.2286del p.E763Rfs*29 Frameshift 8/50 - 1
7-91631518-G-A c.2287G>A p.E763K Missense 8/50 - 1
7-91631526-T-A c.2295T>A p.D765E Missense 8/50 - 4
7-91631526-T-G c.2295T>G p.D765E Missense 8/50 - 1
7-91631530-C-A c.2299C>A p.Q767K Missense 8/50 - 1
7-91631532-A-AT c.2301_2302insT p.E768* Nonsense 8/50 - 1
7-91631533-G-C c.2302G>C p.E768Q Missense 8/50 - 1
7-91631533-G-T c.2302G>T p.E768* Nonsense 8/50 - 1
7-91631540-T-G c.2309T>G p.F770C Missense 8/50 - 4
7-91631542-G-A c.2311G>A p.A771T Missense 8/50 - 1
7-91631543-C-T c.2312C>T p.A771V Missense 8/50 - 1
7-91631551-G-A c.2320G>A p.E774K Missense 8/50 - 2
7-91631555-C-G c.2324C>G p.A775G Missense 8/50 - 1
7-91631555-C-T c.2324C>T p.A775V Missense 8/50 - 1
7-91631557-G-T c.2326G>T p.E776* Nonsense 8/50 - 1
7-91631558-A-G c.2327A>G p.E776G Missense 8/50 - 3
7-91631561-A-G c.2330A>G p.N777S Missense 8/50 - 1
7-91631562-T-A c.2331T>A p.N777K Missense 8/50 - 1
7-91631562-T-G c.2331T>G p.N777K Missense 8/50 - 1
7-91631567-T-G c.2336T>G p.I779S Missense 8/50 - 1
7-91631569-CTT-ATG c.2338_2340delinsATG p.L780M Missense 8/50 - 1
7-91631574-A-G c.2343A>G p.K781= Synonymous 8/50 - 1
7-91631575-G-A c.2344G>A p.D782N Missense 8/50 - 1
7-91631576-A-G c.2345A>G p.D782G Missense 8/50 - 1
7-91631578-G-A c.2347G>A p.E783K Missense 8/50 - 1
7-91631591-T-C c.2360T>C p.L787P Missense 8/50 - 1
7-91631593-G-T c.2362G>T p.E788* Nonsense 8/50 - 2
7-91631594-A-C c.2363A>C p.E788A Missense 8/50 - 1
7-91631599-A-G c.2368A>G p.M790V Missense 8/50 - 1
7-91631605-A-G c.2374A>G p.K792E Missense 8/50 - 2
7-91631608-A-G c.2377A>G p.I793V Missense 8/50 - 1
7-91631610-A-G c.2379A>G p.I793M Missense 8/50 - 2
7-91631610-A-T c.2379A>T p.I793= Synonymous 8/50 - 1
7-91631616-T-A c.2385T>A p.T795= Synonymous 8/50 - 1
7-91631616-T-C c.2385T>C p.T795= Synonymous 8/50 - 1
7-91631616-T-G c.2385T>G p.T795= Synonymous 8/50 - 1
7-91631618-C-T c.2387C>T p.P796L Missense 8/50 - 2
7-91631620-G-GT c.2391dup p.S798* Nonsense 8/50 - 1
7-91631626-C-G c.2395C>G p.Q799E Missense 8/50 - 2
7-91631629-G-A c.2398G>A p.E800K Missense 8/50 - 3
7-91631629-G-T c.2398G>T p.E800* Nonsense 8/50 - 1
7-91631632-G-A c.2401G>A p.E801K Missense 8/50 - 1
7-91631633-A-G c.2402A>G p.E801G Missense 8/50 - 1
7-91631634-A-C c.2403A>C p.E801D Missense 8/50 - 1
7-91631634-A-T c.2403A>T p.E801D Missense 8/50 - 1
7-91631635-AG-CA c.2404_2405delinsCA p.R802Q Missense 8/50 - 2
7-91631641-GA-G c.2410del p.I804Ffs*3 Frameshift 8/50 - 1
7-91631650-G-A c.2419G>A p.D807N Missense 8/50 - 3
7-91631650-G-T c.2419G>T p.D807Y Missense 8/50 - 1
7-91631652-C-A c.2421C>A p.D807E Missense 8/50 - 1
7-91631652-C-G c.2421C>G p.D807E Missense 8/50 - 1
7-91631653-TC-CG c.2422_2423delinsCG p.S808R Missense 8/50 - 1
7-91631654-C-T c.2423C>T p.S808F Missense 8/50 - 3
7-91631655-C-A c.2424C>A p.S808= Synonymous 8/50 - 1
7-91631655-C-G c.2424C>G p.S808= Synonymous 8/50 - 1
7-91631655-C-T c.2424C>T p.S808= Synonymous 8/50 - 2
7-91631656-A-G c.2425A>G p.I809V Missense 8/50 - 4
7-91631659-A-C c.2428A>C p.K810Q Missense 8/50 - 1
7-91631660-A-C c.2429A>C p.K810T Missense 8/50 - 2
7-91631663-C-A c.2432C>A p.S811Y Missense 8/50 - 1
7-91631669-C-T c.2438C>T p.S813F Missense 8/50 - 2
7-91631674-G-A c.2443G>A p.D815N Missense 8/50 - 1
7-91631677-T-C c.2446T>C p.S816P Missense 8/50 - 2
7-91631682-G-A c.2451G>A p.V817= Synonymous 8/50 - 2
7-91631682-G-C c.2451G>C p.V817= Synonymous 8/50 - 2
7-91631682-G-T c.2451G>T p.V817= Synonymous 8/50 - 2
7-91631689-A-G c.2458A>G p.K820E Missense 8/50 - 1
7-91631690-A-G c.2459A>G p.K820R Missense 8/50 - 1
7-91631692-G-C c.2461G>C p.E821Q Missense 8/50 - 1
7-91631698-G-A c.2467G>A p.E823K Missense 8/50 - 2
7-91631706-T-A c.2475T>A p.L825= Synonymous 8/50 - 1
7-91631706-T-C c.2475T>C p.L825= Synonymous 8/50 - 1
7-91631706-T-G c.2475T>G p.L825= Synonymous 8/50 - 1
7-91631707-A-G c.2476A>G p.I826V Missense 8/50 - 2
7-91631708-T-C c.2477T>C p.I826T Missense 8/50 - 3
7-91631709-A-G c.2478A>G p.I826M Missense 8/50 - 1
7-91631710-G-T c.2479G>T p.E827* Nonsense 8/50 - 1
7-91631719-G-T c.2488G>T p.E830* Nonsense 8/50 - 1
7-91631723-A-G c.2492A>G p.D831G Missense 8/50 - 1
7-91631729-A-G c.2498A>G p.K833R Missense 8/50 - 4
7-91631731-C-T c.2500C>T p.Q834* Nonsense 8/50 - 1
7-91631740-A-G c.2509A>G p.I837V Missense 8/50 - 1
7-91631741-T-C c.2510T>C p.I837T Missense 8/50 - 1
7-91631743-C-T c.2512C>T p.Q838* Nonsense 8/50 - 1
7-91631746-C-A c.2515C>A p.L839I Missense 8/50 - 1
7-91631746-C-G c.2515C>G p.L839V Missense 8/50 - 1
7-91631750-A-C c.2519A>C p.N840T Missense 8/50 - 1
7-91631752-G-A c.2521G>A p.E841K Missense 8/50 - 1
7-91631758-A-C c.2527A>C p.I843L Missense 8/50 - 1
7-91631759-T-G c.2528T>G p.I843S Missense 8/50 - 1
7-91631758-AT-A c.2529del p.I843Mfs*32 Frameshift 8/50 - 1
7-91631767-C-G c.2536C>G p.Q846E Missense 8/50 - 1
7-91631771-G-A c.2540G>A p.R847K Missense 8/50 - 4
7-91631772-G-C c.2541G>C p.R847S Missense 8/50 - 2
7-91631772-G-T c.2541G>T p.R847S Missense 8/50 - 1
7-91631774-A-G c.2543A>G p.N848S Missense 8/50 - 1
7-91631778-T-G c.2547T>G p.T849= Synonymous 8/50 - 1
7-91631779-T-C c.2548T>C p.F850L Missense 8/50 - 1
7-91631781-T-A c.2550T>A p.F850L Missense 8/50 - 1
7-91631781-T-G c.2550T>G p.F850L Missense 8/50 - 1
7-91631777-CTT-C c.2550_2551del p.S851Ifs*3 Frameshift 8/50 - 1
7-91631783-C-T c.2552C>T p.S851L Missense 8/50 - 1
7-91631785-T-C c.2554T>C p.F852L Missense 8/50 - 1
7-91631786-T-C c.2555T>C p.F852S Missense 8/50 - 1
7-91631788-G-A c.2557G>A p.A853T Missense 8/50 - 1
7-91631791-G-GA c.2567dup p.N856Kfs*3 Frameshift 8/50 - 1
7-91631798-A-G c.2567A>G p.N856S Missense 8/50 - 1
7-91631799-C-T c.2568C>T p.N856= Synonymous 8/50 - 1
7-91631800-T-G c.2569T>G p.F857V Missense 8/50 - 1
7-91631803-G-C c.2572G>C p.E858Q Missense 8/50 - 1
7-91631812-T-C c.2581T>C p.Y861H Missense 8/50 - 4
7-91631815-C-T c.2584C>T p.Q862* Nonsense 8/50 - 1
7-91631816-CAA-C c.2585_2586del p.Q862Rfs*15 Frameshift 8/50 - 1
7-91631818-G-C c.2587G>C p.E863Q Missense 8/50 - 1
7-91631820-G-A c.2589G>A p.E863= Synonymous 8/50 - 2
7-91631820-G-C c.2589G>C p.E863D Missense 8/50 - 1
7-91631820-G-T c.2589G>T p.E863D Missense 8/50 - 1
7-91631821-TTA-CAT c.2590_2592delinsCAT p.L864H Missense 8/50 - 1
7-91631827-G-A c.2596G>A p.E866K Missense 8/50 - 3
7-91631830-G-T c.2599G>T p.E867* Nonsense 8/50 - 1
7-91631832-AG-A c.2601del p.E867Dfs*8 Frameshift 8/50 - 1
7-91631833-T-C c.2602T>C p.Y868H Missense 8/50 - 2
7-91631837-C-T c.2606C>T p.A869V Missense 8/50 - 1
7-91631838-T-C c.2607T>C p.A869= Synonymous 8/50 - 1
7-91631840-G-A c.2609G>A p.C870Y Missense 8/50 - 7
7-91631845-C-T c.2614C>T p.L872F Missense 8/50 - 1
7-91631848-A-C c.2617A>C p.K873Q Missense 8/50 - 1
7-91631849-A-G c.2618A>G p.K873R Missense 8/50 - 1
7-91631851-AG-A c.2620del p.V874* Frameshift 8/50 - 1
7-91631851-G-A c.2620G>A p.V874I Missense 8/50 - 1
7-91631851-GT-TA c.2620_2621delinsTA p.V874* Nonsense 8/50 - 1
7-91631852-T-A c.2621T>A p.V874E Missense 8/50 - 1
7-91631856-A-C c.2625A>C p.K875N Missense 8/50 - 1
7-91631856-A-G c.2625A>G p.K875= Synonymous 8/50 - 1
7-91631856-A-T c.2625A>T p.K875N Missense 8/50 - 1
7-91631857-G-T c.2626G>T p.D876Y Missense 8/50 - 2
7-91631864-TTAG-T c.2633_2635del p.L878_E879delins* MultiAAMissense 8/50 - 1
7-91631868-A-C c.2637A>C p.E879D Missense 8/50 - 1
7-91631868-A-G c.2637A>G p.E879= Synonymous 8/50 - 1
7-91631868-A-T c.2637A>T p.E879D Missense 8/50 - 1
7-91631872-A-T c.2641A>T p.S881C Missense 8/50 - 1
7-91631874-T-C c.2643T>C p.S881= Synonymous 8/50 - 2
7-91631875-A-C c.2644A>C p.K882Q Missense 8/50 - 1
7-91631877-A-C c.2646A>C p.K882N Missense 8/50 - 1
7-91631877-A-T c.2646A>T p.K882N Missense 8/50 - 1
7-91631879-A-G c.2648A>G p.N883S Missense 8/50 - 1
7-91631890-TT-AG c.2659_2660delinsAG p.L887R Missense 8/50 - 1
7-91631892-A-G c.2661A>G p.L887= Synonymous 8/50 - 1
7-91631893-G-A c.2662G>A p.E888K Missense 8/50 - 1
7-91631907-A-G c.2676A>G p.K892= Synonymous 8/50 - 1
7-91631909-T-G c.2678T>G p.L893R Missense 8/50 - 1
7-91631913-A-C c.2682A>C p.K894N Missense 8/50 - 1
7-91631913-A-T c.2682A>T p.K894N Missense 8/50 - 1
7-91631914-G-T c.2683G>T p.A895S Missense 8/50 - 2
7-91631923-G-A c.2692G>A p.E898K Missense 8/50 - 1
7-91631928-G-A c.2697G>A p.E899= Synonymous 8/50 - 1
7-91631932-C-A c.2701C>A p.H901N Missense 8/50 - 2
7-91631932-C-T c.2701C>T p.H901Y Missense 8/50 - 1
7-91631935-T-C c.2704T>C p.L902= Synonymous 8/50 - 1
7-91631935-T-G c.2704T>G p.L902V Missense 8/50 - 1
7-91631937-G-A c.2706G>A p.L902= Synonymous 8/50 - 1
7-91631941-A-G c.2710A>G p.R904G Missense 8/50 - 1
7-91631942-G-C c.2711G>C p.R904T Missense 8/50 - 1
7-91631956-A-T c.2725A>T p.T909S Missense 8/50 - 1
7-91631959-G-C c.2728G>C p.V910L Missense 8/50 - 1
7-91631967-G-A c.2736G>A p.M912I Missense 8/50 - 1
7-91631974-T-A c.2743T>A p.S915T Missense 8/50 - 2
7-91631973-TTC-T c.2744_2745del p.S915Cfs*3 Frameshift 8/50 - 2
7-91631975-C-T c.2744C>T p.S915F Missense 8/50 - 1
7-91631983-G-A c.2752G>A p.D918N Missense 8/50 - 1
7-91631983-G-C c.2752G>C p.D918H Missense 8/50 - 2
7-91631989-G-A c.2758G>A p.D920N Missense 8/50 - 1
7-91631989-G-C c.2758G>C p.D920H Missense 8/50 - 1
7-91631993-A-G c.2762A>G p.K921R Missense 8/50 - 1
7-91631997-T-G c.2766T>G p.T922= Synonymous 8/50 - 1
7-91631998-T-C c.2767T>C p.F923L Missense 8/50 - 1
7-91632000-T-A c.2769T>A p.F923L Missense 8/50 - 1
7-91632000-T-G c.2769T>G p.F923L Missense 8/50 - 1
7-91632007-G-A c.2776G>A p.E926K Missense 8/50 - 1
7-91632007-G-C c.2776G>C p.E926Q Missense 8/50 - 2
7-91632013-T-C c.2782T>C p.L928= Synonymous 8/50 - 1
7-91632016-G-A c.2785G>A p.E929K Missense 8/50 - 2
7-91632025-G-A c.2794G>A p.E932K Missense 8/50 - 2
7-91632025-GAGGTTGTTGAAA-G c.2798_2809del p.V933_K936del InFrameDeletion 8/50 - 1
7-91632032-T-C c.2801T>C p.V934A Missense 8/50 - 1
7-91632033-T-G c.2802T>G p.V934= Synonymous 8/50 - 1
7-91632040-G-T c.2809G>T p.D937Y Missense 8/50 - 1
7-91632043-A-G c.2812A>G p.T938A Missense 8/50 - 3
7-91632044-C-T c.2813C>T p.T938I Missense 8/50 - 1
7-91632047-CAG-C c.2818_2819del p.E940Tfs*6 Frameshift 8/50 - 1
7-91632049-G-C c.2818G>C p.E940Q Missense 8/50 - 1
7-91632052-C-G c.2821C>G p.L941V Missense 8/50 - 1
7-91632057-G-A c.2826G>A p.M942I Missense 8/50 - 1
7-91632058-G-A c.2827G>A p.E943K Missense 8/50 - 1
7-91632058-G-T c.2827G>T p.E943* Nonsense 8/50 - 1
7-91632065-T-G c.2834T>G p.L945R Missense 8/50 - 1
7-91632067-G-C c.2836G>C p.E946Q Missense 8/50 - 1
7-91632079-C-T c.2848C>T p.R950* Nonsense 8/50 - 1
7-91632080-G-A c.2849G>A p.R950Q Missense 8/50 - 1
7-91632081-A-C c.2850A>C p.R950= Synonymous 8/50 - 1
7-91632084-G-C c.2853G>C p.E951D Missense 8/50 - 3
7-91632084-G-T c.2853G>T p.E951D Missense 8/50 - 4
7-91632085-A-G c.2854A>G p.K952E Missense 8/50 - 2
7-91632091-G-C c.2860G>C p.E954Q Missense 8/50 - 2
7-91632093-G-C c.2862G>C p.E954D Missense 8/50 - 1
7-91632093-G-T c.2862G>T p.E954D Missense 8/50 - 1
7-91632097-T-C c.2866T>C p.S956P Missense 8/50 - 1
7-91632098-C-A c.2867C>A p.S956* Nonsense 8/50 - 1
7-91632098-C-T c.2867C>T p.S956L Missense 8/50 - 1
7-91632100-C-G c.2869C>G p.Q957E Missense 8/50 - 1
7-91632106-C-T c.2875C>T p.L959= Synonymous 8/50 - 1
7-91632110-C-T c.2879C>T p.S960F Missense 8/50 - 2
7-91632130-A-G c.2899A>G p.K967E Missense 8/50 - 1
7-91632137-A-G c.2906A>G p.K969R Missense 8/50 - 1
7-91632138-A-C c.2907A>C p.K969N Missense 8/50 - 1
7-91632138-A-T c.2907A>T p.K969N Missense 8/50 - 1
7-91632139-C-G c.2908C>G p.H970D Missense 8/50 - 6
7-91632152-G-A c.2921G>A p.S974N Missense 8/50 - 1
7-91632161-A-G c.2930A>G p.N977S Missense 8/50 - 1
7-91632169-G-A c.2938G>A p.V980I Missense 8/50 - 2
7-91632176-C-A c.2945C>A p.S982Y Missense 8/50 - 3
7-91632176-C-G c.2945C>G p.S982C Missense 8/50 - 2
7-91632178-T-G c.2947T>G p.L983V Missense 8/50 - 1
7-91632182-A-G c.2951A>G p.K984R Missense 8/50 - 1
7-91632188-A-G c.2957A>G p.E986G Missense 8/50 - 1
7-91632191-A-G c.2960A>G p.K987R Missense 8/50 - 1
7-91632195-A-G c.2964A>G p.E988= Synonymous 8/50 - 1
7-91632198-A-G c.2967A>G p.Q989= Synonymous 8/50 - 2
7-91632200-T-C c.2969T>C p.V990A Missense 8/50 - 1
7-91632203-C-T c.2972C>T p.S991L Missense 8/50 - 1
7-91632211-TG-GC c.2980_2981delinsGC p.C994A Missense 8/50 - 1
7-91632214-AGA-TGT c.2983_2985delinsTGT p.R995C Missense 8/50 - 1
7-91632214-AG-CA c.2983_2984delinsCA p.R995Q Missense 8/50 - 1
7-91632220-C-G c.2989C>G p.L997V Missense 8/50 - 1
7-91632220-C-T c.2989C>T p.L997= Synonymous 8/50 - 2
7-91632222-A-G c.2991A>G p.L997= Synonymous 8/50 - 2
7-91632223-G-A c.2992G>A p.E998K Missense 8/50 - 1
7-91632229-A-G c.2998A>G p.I1000V Missense 8/50 - 1
7-91632233-T-C c.3002T>C p.I1001T Missense 8/50 - 1
7-91632239-A-G c.3008A>G p.H1003R Missense 8/50 - 1
7-91632243-C-T c.3012C>T p.N1004= Synonymous 8/50 - 1
7-91632244-A-T c.3013A>T p.R1005W Missense 8/50 - 1
7-91632245-G-A c.3014G>A p.R1005K Missense 8/50 - 2
7-91632247-G-T c.3016G>T p.A1006S Missense 8/50 - 1
7-91632252-A-C c.3021A>C p.E1007D Missense 8/50 - 4
7-91632252-A-T c.3021A>T p.E1007D Missense 8/50 - 2
7-91632256-TG-T c.3025del p.V1009Yfs*8 Frameshift 8/50 - 1
7-91632258-A-G c.3027A>G p.V1009= Synonymous 8/50 - 1
7-91632259-C-T c.3028C>T p.Q1010* Nonsense 8/50 - 1
7-91632261-G-C c.3030G>C p.Q1010H Missense 8/50 - 3
7-91632263-CA-TT c.3032_3033delinsTT p.S1011F Missense 8/50 - 1
7-91632268-G-A c.3037G>A p.D1013N Missense 8/50 - 1
7-91632276-A-C c.3045A>C p.Q1015H Missense 8/50 - 1
7-91632276-A-T c.3045A>T p.Q1015H Missense 8/50 - 1
7-91632274-CAAGT-C c.3047_3050del p.V1016Afs*4 Frameshift 8/50 - 1
7-91632281-G-A c.3050G>A p.S1017N Missense 8/50 - 1
7-91632283-TC-CT c.3052_3053delinsCT p.S1018L Missense 8/50 - 1
7-91632286-T-G c.3055T>G p.L1019V Missense 8/50 - 1
7-91632291-A-G c.3060A>G p.L1020= Synonymous 8/50 - 1
7-91632296-G-A c.3065G>A p.G1022E Missense 8/50 - 1
7-91632296-G-C c.3065G>C p.G1022A Missense 8/50 - 1
7-91632296-G-T c.3065G>T p.G1022V Missense 8/50 - 1
7-91632297-A-C c.3066A>C p.G1022= Synonymous 8/50 - 1
7-91632297-A-G c.3066A>G p.G1022= Synonymous 8/50 - 1
7-91632297-A-T c.3066A>T p.G1022= Synonymous 8/50 - 1
7-91632299-T-A c.3068T>A p.V1023D Missense 8/50 - 1
7-91632300-T-A c.3069T>A p.V1023= Synonymous 8/50 - 1
7-91632300-T-C c.3069T>C p.V1023= Synonymous 8/50 - 1
7-91632300-T-G c.3069T>G p.V1023= Synonymous 8/50 - 1
7-91632301-G-C c.3070G>C p.V1024L Missense 8/50 - 1
7-91632301-G-T c.3070G>T p.V1024L Missense 8/50 - 1
7-91632304-A-G c.3073A>G p.T1025A Missense 8/50 - 1
7-91632306-C-A c.3075C>A p.T1025= Synonymous 8/50 - 2
7-91632306-C-G c.3075C>G p.T1025= Synonymous 8/50 - 26
7-91632306-C-T c.3075C>T p.T1025= Synonymous 8/50 - 28
7-91632310-AC-GG c.3079_3080delinsGG p.T1027G Missense 8/50 - 1
7-91632314-G-A c.3083G>A p.S1028N Missense 8/50 - 2
7-91632317-G-T c.3086G>T p.R1029M Missense 8/50 - 1
7-91632318-G-T c.3087G>T p.R1029S Missense 8/50 - 1
7-91632325-G-T c.3094G>T p.E1032* Nonsense 8/50 - 1
7-91632329-G-C c.3098G>C p.G1033A Missense 8/50 - 1
7-91632330-A-C c.3099A>C p.G1033= Synonymous 8/50 - 1
7-91632330-A-G c.3099A>G p.G1033= Synonymous 8/50 - 1
7-91632330-A-T c.3099A>T p.G1033= Synonymous 8/50 - 1
7-91632335-T-C c.3104T>C p.V1035A Missense 8/50 - 1
7-91632338-C-T c.3107C>T p.S1036F Missense 8/50 - 4
7-91632352-A-G c.3121A>G p.S1041G Missense 8/50 - 1
7-91632354-T-A c.3123T>A p.S1041R Missense 8/50 - 2
7-91632357-T-C c.3126T>C p.F1042= Synonymous 8/50 - 1
7-91632358-G-A c.3127G>A p.G1043S Missense 8/50 - 2
7-91632359-G-C c.3128G>C p.G1043A Missense 8/50 - 4
7-91632362-A-G c.3131A>G p.E1044G Missense 8/50 - 1
7-91632365-A-C c.3134A>C p.E1045A Missense 8/50 - 1
7-91632364-GA-G c.3135del p.E1045Dfs*4 Frameshift 8/50 - 1
7-91632367-TC-AG c.3136_3137delinsAG p.S1046R Missense 8/50 - 1
7-91632368-C-G c.3137C>G p.S1046* Nonsense 8/50 - 1
7-91632370-A-C c.3139A>C p.K1047Q Missense 8/50 - 2
7-91632371-A-T c.3140A>T p.K1047I Missense 8/50 - 2
7-91632372-A-C c.3141A>C p.K1047N Missense 8/50 - 1
7-91632372-A-T c.3141A>T p.K1047N Missense 8/50 - 1
7-91632375-A-T c.3144A>T p.I1048= Synonymous 8/50 - 1
7-91632376-A-C c.3145A>C p.M1049L Missense 8/50 - 1
7-91632376-A-T c.3145A>T p.M1049L Missense 8/50 - 2
7-91632377-T-C c.3146T>C p.M1049T Missense 8/50 - 1
7-91632377-TG-T c.3148del p.V1050Wfs*10 Frameshift 8/50 - 1
7-91632379-G-A c.3148G>A p.V1050M Missense 8/50 - 1
7-91632382-G-C c.3151G>C p.E1051Q Missense 8/50 - 1
7-91632382-G-T c.3151G>T p.E1051* Nonsense 8/50 - 2
7-91632385-G-A c.3154G>A p.D1052N Missense 8/50 - 1
7-91632389-A-T c.3158A>T p.K1053I Missense 8/50 - 1
7-91632391-G-C c.3160G>C p.V1054L Missense 8/50 - 1
7-91632394-TC-GG c.3163_3164delinsGG p.S1055G Missense 8/50 - 1
7-91632395-C-A c.3164C>A p.S1055Y Missense 8/50 - 1
7-91632397-T-C c.3166T>C p.F1056L Missense 8/50 - 1
7-91632399-T-A c.3168T>A p.F1056L Missense 8/50 - 1
7-91632399-T-G c.3168T>G p.F1056L Missense 8/50 - 2
7-91632400-G-A c.3169G>A p.E1057K Missense 8/50 - 1
7-91632401-A-G c.3170A>G p.E1057G Missense 8/50 - 1
7-91632402-A-G c.3171A>G p.E1057= Synonymous 8/50 - 1
7-91632404-A-C c.3173A>C p.N1058T Missense 8/50 - 1
7-91632415-G-A c.3184G>A p.G1062R Missense 8/50 - 1
7-91632416-G-A c.3185G>A p.G1062E Missense 8/50 - 8
7-91632416-G-C c.3185G>C p.G1062A Missense 8/50 - 1
7-91632417-A-C c.3186A>C p.G1062= Synonymous 8/50 - 2
7-91632417-A-G c.3186A>G p.G1062= Synonymous 8/50 - 2
7-91632417-A-T c.3186A>T p.G1062= Synonymous 8/50 - 2
7-91632418-G-A c.3187G>A p.E1063K Missense 8/50 - 1
7-91632421-G-A c.3190G>A p.E1064K Missense 8/50 - 2
7-91632423-A-G c.3192A>G p.E1064= Synonymous 8/50 - 1
7-91632424-A-G c.3193A>G p.S1065G Missense 8/50 - 2
7-91632442-A-T c.3211A>T p.I1071F Missense 8/50 - 1
7-91632445-T-G c.3214T>G p.L1072V Missense 8/50 - 2
7-91632452-A-G c.3221A>G p.H1074R Missense 8/50 - 1
7-91632458-CA-AT c.3227_3228delinsAT p.P1076H Missense 8/50 - 1
7-91632460-T-C c.3229T>C p.S1077P Missense 8/50 - 1
7-91632468-A-G c.3237A>G p.T1079= Synonymous 8/50 - 1
7-91632475-T-G c.3244T>G p.S1082A Missense 8/50 - 1
7-91632476-C-T c.3245C>T p.S1082L Missense 8/50 - 1
7-91632481-C-G c.3250C>G p.L1084V Missense 8/50 - 1
7-91632487-G-A c.3256G>A p.A1086T Missense 8/50 - 1
7-91632490-A-C c.3259A>C p.T1087P Missense 8/50 - 1
7-91632491-C-T c.3260C>T p.T1087I Missense 8/50 - 1
7-91632493-C-T c.3262C>T p.Q1088* Nonsense 8/50 - 1
7-91632500-G-A c.3269G>A p.S1090N Missense 8/50 - 1
7-91632500-G-C c.3269G>C p.S1090T Missense 8/50 - 1
7-91632503-A-T c.3272A>T p.E1091V Missense 8/50 - 1
7-91632507-T-C c.3276T>C p.N1092= Synonymous 8/50 - 1
7-91632519-G-C c.3288G>C p.Q1096H Missense 8/50 - 1
7-91632519-G-T c.3288G>T p.Q1096H Missense 8/50 - 1
7-91632525-A-C c.3294A>C p.E1098D Missense 8/50 - 2
7-91632525-A-T c.3294A>T p.E1098D Missense 8/50 - 1
7-91632526-C-T c.3295C>T p.L1099F Missense 8/50 - 1
7-91632532-G-T c.3301G>T p.V1101L Missense 8/50 - 1
7-91632533-T-C c.3302T>C p.V1101A Missense 8/50 - 1
7-91632537-T-C c.3306T>C p.L1102= Synonymous 8/50 - 1
7-91632538-A-T c.3307A>T p.K1103* Nonsense 8/50 - 1
7-91632540-A-T c.3309A>T p.K1103N Missense 8/50 - 1
7-91632544-G-A c.3313G>A p.E1105K Missense 8/50 - 1
7-91632544-G-T c.3313G>T p.E1105* Nonsense 8/50 - 1
7-91632546-A-G c.3315A>G p.E1105= Synonymous 8/50 - 1
7-91632549-G-GAATGATTTAAGGCTACAGATGGAAGCCCAACGCATTTGCCTCTCTCTGGTTTATTCAACTCATGTGGATCA c.3318_3318+1insAATGATTTAAGGCTACAGATGGAAGCCCAACGCATTTGCCTCTCTCTGGTTTATTCAACTCATGTGGATCA p.V1131Mfs*3 SpliceDonorInsertion - - 1
7-91632715-CT-C c.3318+176del - IntronicDeletion - 8/49 1
7-91636085-G-T c.3318+3536G>T - IntronicSNV - 8/49 1
7-91640773-A-T c.3319-970A>T - IntronicSNV - 8/49 1
7-91641746-G-A c.3322G>A p.D1108N Missense 9/50 - 1
7-91641753-G-C c.3329G>C p.R1110T Missense 9/50 - 3
7-91641760-G-C c.3336G>C p.Q1112H Missense 9/50 - 1
7-91641760-G-T c.3336G>T p.Q1112H Missense 9/50 - 1
7-91641762-T-C c.3338T>C p.M1113T Missense 9/50 - 2
7-91641773-C-T c.3349C>T p.R1117C Missense 9/50 - 5
7-91641774-G-A c.3350G>A p.R1117H Missense 9/50 - 3
7-91641774-G-T c.3350G>T p.R1117L Missense 9/50 - 1
7-91641775-C-A c.3351C>A p.R1117= Synonymous 9/50 - 1
7-91641775-C-G c.3351C>G p.R1117= Synonymous 9/50 - 1
7-91641775-C-T c.3351C>T p.R1117= Synonymous 9/50 - 1
7-91641779-T-G c.3355T>G p.C1119G Missense 9/50 - 1
7-91641785-TC-CT c.3361_3362delinsCT p.S1121L Missense 9/50 - 1
7-91641786-C-G c.3362C>G p.S1121C Missense 9/50 - 1
7-91641788-C-T c.3364C>T p.L1122= Synonymous 9/50 - 1
7-91641790-G-A c.3366G>A p.L1122= Synonymous 9/50 - 1
7-91641790-G-C c.3366G>C p.L1122= Synonymous 9/50 - 1
7-91641790-G-T c.3366G>T p.L1122= Synonymous 9/50 - 1
7-91641793-T-G c.3369T>G p.V1123= Synonymous 9/50 - 1
7-91641800-AC-TG c.3376_3377delinsTG p.T1126C Missense 9/50 - 1
7-91641801-C-A c.3377C>A p.T1126N Missense 9/50 - 1
7-91641805-T-G c.3381T>G p.H1127Q Missense 9/50 - 1
7-91641812-C-G c.3388C>G p.Q1130E Missense 9/50 - 5
7-91641812-C-T c.3388C>T p.Q1130* Nonsense 9/50 - 1
7-91641818-CGT-TGG c.3394_3396delinsTGG p.R1132W Missense 9/50 - 1
7-91641818-C-T c.3394C>T p.R1132C Missense 9/50 - 8
7-91641819-G-A c.3395G>A p.R1132H Missense 9/50 - 2
7-91641821-G-A c.3397G>A p.E1133K Missense 9/50 - 1
7-91641822-A-G c.3398A>G p.E1133G Missense 9/50 - 1
7-91641827-A-G c.3403A>G p.M1135V Missense 9/50 - 2
7-91641829-G-GT c.3405_3406insT p.E1136* Nonsense 9/50 - 1
7-91641832-A-C c.3408A>C p.E1136D Missense 9/50 - 1
7-91641835-T-A c.3411T>A p.N1137K Missense 9/50 - 1
7-91641835-T-G c.3411T>G p.N1137K Missense 9/50 - 1
7-91641839-A-G c.3415A>G p.K1139E Missense 9/50 - 1
7-91641851-C-T c.3427C>T p.L1143F Missense 9/50 - 2
7-91641854-T-C c.3430T>C p.C1144R Missense 9/50 - 8
7-91641859-T-G c.3435T>G p.S1145R Missense 9/50 - 1
7-91641864-A-T c.3440A>T p.K1147I Missense 9/50 - 2
7-91641869-G-A c.3445G>A p.E1149K Missense 9/50 - 1
7-91641872-C-T c.3448C>T p.L1150F Missense 9/50 - 4
7-91641875-A-G c.3451A>G p.I1151V Missense 9/50 - 1
7-91641876-TT-AG c.3452_3453delinsAG p.I1151K Missense 9/50 - 1
7-91641875-A-AT c.3456dup p.A1153Cfs*27 Frameshift 9/50 - 1
7-91641880-T-C c.3456T>C p.F1152= Synonymous 9/50 - 1
7-91641884-C-T c.3460C>T p.Q1154* Nonsense 9/50 - 1
7-91641888-A-G c.3464A>G p.E1155G Missense 9/50 - 1
7-91641893-A-G c.3469A>G p.K1157E Missense 9/50 - 4
7-91641898-C-G c.3474C>G p.I1158M Missense 9/50 - 1
7-91641899-A-G c.3475A>G p.K1159E Missense 9/50 - 1
7-91641902-G-C c.3478G>C p.E1160Q Missense 9/50 - 4
7-91641904-A-C c.3480A>C p.E1160D Missense 9/50 - 1
7-91641904-A-T c.3480A>T p.E1160D Missense 9/50 - 1
7-91641908-C-A c.3484C>A p.Q1162K Missense 9/50 - 1
7-91641909-A-G c.3485A>G p.Q1162R Missense 9/50 - 1
7-91641910-G-C c.3486G>C p.Q1162H Missense 9/50 - 2
7-91641910-G-T c.3486G>T p.Q1162H Missense 9/50 - 2
7-91641911-A-G c.3487A>G p.K1163E Missense 9/50 - 1
7-91641912-A-G c.3488A>G p.K1163R Missense 9/50 - 1
7-91641926-G-A c.3502G>A p.E1168K Missense 9/50 - 1
7-91641928-A-G c.3504A>G p.E1168= Synonymous 9/50 - 19
7-91641942-A-G c.3518A>G p.K1173R Missense 9/50 - 4
7-91641952-A-G c.3528A>G p.E1176= Synonymous 9/50 - 1
7-91641954-CA-TG c.3530_3531inv p.T1177M Missense 9/50 - 2
7-91641954-C-T c.3530C>T p.T1177I Missense 9/50 - 1
7-91642108-C-T c.3532+152C>T - IntronicSNV - 9/49 1
7-91643402-G-T c.3533-161G>T - IntronicSNV - 9/49 2
7-91643568-G-A c.3538G>A p.E1180K Missense 10/50 - 1
7-91643570-A-G c.3540A>G p.E1180= Synonymous 10/50 - 2
7-91643574-A-T c.3544A>T p.K1182* Nonsense 10/50 - 1
7-91643575-A-G c.3545A>G p.K1182R Missense 10/50 - 1
7-91643576-G-GC c.3548dup p.L1184Ffs*14 Frameshift 10/50 - 1
7-91643580-T-C c.3550T>C p.L1184= Synonymous 10/50 - 4
7-91643580-TT-CA c.3550_3551delinsCA p.L1184Q Missense 10/50 - 1
7-91643582-A-G c.3552A>G p.L1184= Synonymous 10/50 - 4
7-91643581-T-G c.3551T>G p.L1184* Nonsense 10/50 - 2
7-91643584-A-G c.3554A>G p.H1185R Missense 10/50 - 1
7-91643586-C-T c.3556C>T p.L1186= Synonymous 10/50 - 1
7-91643588-G-A c.3558G>A p.L1186= Synonymous 10/50 - 1
7-91643588-G-C c.3558G>C p.L1186= Synonymous 10/50 - 1
7-91643588-G-T c.3558G>T p.L1186= Synonymous 10/50 - 1
7-91643589-C-T c.3559C>T p.L1187F Missense 10/50 - 1
7-91643591-C-T c.3561C>T p.L1187= Synonymous 10/50 - 1
7-91643593-T-C c.3563T>C p.I1188T Missense 10/50 - 2
7-91643594-T-G c.3564T>G p.I1188M Missense 10/50 - 1
7-91643603-T-A c.3573T>A p.L1191= Synonymous 10/50 - 1
7-91643603-T-C c.3573T>C p.L1191= Synonymous 10/50 - 1
7-91643603-T-G c.3573T>G p.L1191= Synonymous 10/50 - 1
7-91643604-C-G c.3574C>G p.Q1192E Missense 10/50 - 1
7-91643610-G-A c.3580G>A p.A1194T Missense 10/50 - 6
7-91643616-TC-CT c.3586_3587delinsCT p.S1196L Missense 10/50 - 1
7-91643617-CT-AA c.3587_3588delinsAA p.S1196* Nonsense 10/50 - 1
7-91643619-G-A c.3589G>A p.E1197K Missense 10/50 - 4
7-91643622-G-C c.3592G>C p.E1198Q Missense 10/50 - 1
7-91643624-A-G c.3594A>G p.E1198= Synonymous 10/50 - 1
7-91643629-C-G c.3599C>G p.S1200C Missense 10/50 - 1
7-91643630-T-A c.3600T>A p.S1200= Synonymous 10/50 - 1
7-91643630-T-C c.3600T>C p.S1200= Synonymous 10/50 - 1
7-91643630-T-G c.3600T>G p.S1200= Synonymous 10/50 - 1
7-91643633-T-C c.3603T>C p.Y1201= Synonymous 10/50 - 1
7-91643632-A-AT c.3608dup p.L1203Ffs*10 Frameshift 10/50 - 2
7-91643632-AT-A c.3608del p.L1203Yfs*16 Frameshift 10/50 - 2
7-91643640-C-A c.3610C>A p.Q1204K Missense 10/50 - 1
7-91645265-A-G c.3613-178A>G - IntronicSNV - 10/49 1
7-91645265-A-T c.3613-178A>T - IntronicSNV - 10/49 1
7-91645449-TG-GC c.3619_3620delinsGC p.C1207A Missense 11/50 - 1
7-91645452-A-T c.3622A>T p.S1208C Missense 11/50 - 1
7-91645454-T-C c.3624T>C p.S1208= Synonymous 11/50 - 4
7-91645455-G-A c.3625G>A p.V1209I Missense 11/50 - 1
7-91645464-G-C c.3634G>C p.E1212Q Missense 11/50 - 1
7-91645488-TG-AC c.3658_3659delinsAC p.C1220T Missense 11/50 - 1
7-91645489-G-A c.3659G>A p.C1220Y Missense 11/50 - 1
7-91645501-C-T c.3671C>T p.A1224V Missense 11/50 - 1
7-91645503-G-A c.3673G>A p.E1225K Missense 11/50 - 1
7-91645506-G-A c.3676G>A p.D1226N Missense 11/50 - 2
7-91645509-A-G c.3679A>G p.K1227E Missense 11/50 - 1
7-91645519-C-A c.3689C>A p.S1230Y Missense 11/50 - 1
7-91645522-G-C c.3692G>C p.G1231A Missense 11/50 - 1
7-91645530-A-G c.3700A>G p.I1234V Missense 11/50 - 2
7-91645533-T-C c.3703T>C p.S1235P Missense 11/50 - 1
7-91645538-A-C c.3708A>C p.E1236D Missense 11/50 - 2
7-91645538-A-T c.3708A>T p.E1236D Missense 11/50 - 2
7-91645542-G-T c.3712G>T p.E1238* Nonsense 11/50 - 2
7-91645545-G-T c.3715G>T p.D1239Y Missense 11/50 - 2
7-91645546-A-G c.3716A>G p.D1239G Missense 11/50 - 1
7-91645547-T-C c.3717T>C p.D1239= Synonymous 11/50 - 1
7-91645548-C-G c.3718C>G p.P1240A Missense 11/50 - 1
7-91645551-G-A c.3721G>A p.E1241K Missense 11/50 - 3
7-91645551-G-C c.3721G>C p.E1241Q Missense 11/50 - 1
7-91645552-A-G c.3722A>G p.E1241G Missense 11/50 - 1
7-91645560-G-A c.3730G>A p.D1244N Missense 11/50 - 1
7-91645560-G-C c.3730G>C p.D1244H Missense 11/50 - 1
7-91645566-AGA-TGT c.3736_3738delinsTGT p.R1246C Missense 11/50 - 1
7-91645566-A-C c.3736A>C p.R1246= Synonymous 11/50 - 1
7-91645568-A-G c.3738A>G p.R1246= Synonymous 11/50 - 1
7-91646198-C-T c.3752-133C>T - IntronicSNV - 11/49 1
7-91646331-A-C c.3752A>C p.D1251A Missense 12/50 - 1
7-91646339-G-A c.3760G>A p.E1254K Missense 12/50 - 1
7-91646343-A-G c.3764A>G p.N1255S Missense 12/50 - 1
7-91646347-G-A c.3768G>A p.M1256I Missense 12/50 - 1
7-91646347-G-C c.3768G>C p.M1256I Missense 12/50 - 1
7-91646347-G-T c.3768G>T p.M1256I Missense 12/50 - 1
7-91646354-C-A c.3775C>A p.L1259I Missense 12/50 - 1
7-91646358-T-C c.3779T>C p.L1260P Missense 12/50 - 2
7-91646370-C-T c.3791C>T p.T1264I Missense 12/50 - 1
7-91646372-G-A c.3793G>A p.E1265K Missense 12/50 - 1
7-91646383-C-T c.3804C>T p.N1268= Synonymous 12/50 - 1
7-91646386-A-T c.3807A>T p.K1269N Missense 12/50 - 3
7-91646387-C-T c.3808C>T p.L1270F Missense 12/50 - 1
7-91646395-A-C c.3816A>C p.V1272= Synonymous 12/50 - 1
7-91646395-A-G c.3816A>G p.V1272= Synonymous 12/50 - 1
7-91646395-A-T c.3816A>T p.V1272= Synonymous 12/50 - 1
7-91646396-C-A c.3817C>A p.L1273I Missense 12/50 - 1
7-91646397-T-C c.3818T>C p.L1273P Missense 12/50 - 1
7-91646401-AAC-A c.3825_3826del p.R1276Tfs*15 Frameshift 12/50 - 1
7-91646405-C-T c.3826C>T p.R1276* Nonsense 12/50 - 1
7-91646406-G-A c.3827G>A p.R1276Q Missense 12/50 - 18
7-91646409-TA-AT c.3830_3831delinsAT p.L1277H Missense 12/50 - 1
7-91646409-T-C c.3830T>C p.L1277P Missense 12/50 - 1
7-91646411-A-C c.3832A>C p.S1278R Missense 12/50 - 1
7-91646413-C-A c.3834C>A p.S1278R Missense 12/50 - 1
7-91646413-C-G c.3834C>G p.S1278R Missense 12/50 - 1
7-91646416-G-C c.3837G>C p.K1279N Missense 12/50 - 1
7-91646416-G-T c.3837G>T p.K1279N Missense 12/50 - 1
7-91646462-T-C c.3837+46T>C - IntronicSNV - 12/49 1
7-91647390-A-G c.3837+974A>G - IntronicSNV - 12/49 1
7-91647753-CACAG-C c.3837+1339_3837+1342del - IntronicDeletion - 12/49 1
7-91648341-G-A c.3837+1925G>A - IntronicSNV - 12/49 1
7-91651559-G-A c.3845G>A p.G1282E Missense 13/50 - 1
7-91651559-G-C c.3845G>C p.G1282A Missense 13/50 - 1
7-91651563-G-A c.3849G>A p.Q1283= Synonymous 13/50 - 1
7-91651563-G-C c.3849G>C p.Q1283H Missense 13/50 - 1
7-91651563-G-T c.3849G>T p.Q1283H Missense 13/50 - 1
7-91651570-G-A c.3856G>A p.D1286N Missense 13/50 - 1
7-91651574-G-A c.3860G>A p.G1287D Missense 13/50 - 1
7-91651589-T-A c.3875T>A p.F1292Y Missense 13/50 - 1
7-91651592-GA-AC c.3878_3879delinsAC p.G1293D Missense 13/50 - 1
7-91651592-G-C c.3878G>C p.G1293A Missense 13/50 - 1
7-91651597-G-A c.3883G>A p.E1295K Missense 13/50 - 3
7-91651606-CC-TT c.3892_3893delinsTT p.P1298L Missense 13/50 - 1
7-91651606-C-T c.3892C>T p.P1298S Missense 13/50 - 1
7-91651607-C-T c.3893C>T p.P1298L Missense 13/50 - 2
7-91651611-A-G c.3897A>G p.K1299= Synonymous 13/50 - 1
7-91651621-G-C c.3907G>C p.E1303Q Missense 13/50 - 2
7-91651628-T-C c.3914T>C p.L1305S Missense 13/50 - 1
7-91651632-A-G c.3918A>G p.S1306= Synonymous 13/50 - 1
7-91651635-C-G c.3921C>G p.I1307M Missense 13/50 - 1
7-91651636-C-T c.3922C>T p.H1308Y Missense 13/50 - 3
7-91651637-A-G c.3923A>G p.H1308R Missense 13/50 - 2
7-91651646-T-A c.3932T>A p.M1311K Missense 13/50 - 2
7-91651652-A-C c.3938A>C p.N1313T Missense 13/50 - 1
7-91651657-G-A c.3943G>A p.E1315K Missense 13/50 - 1
7-91651657-G-T c.3943G>T p.E1315* Nonsense 13/50 - 1
7-91651659-A-C c.3945A>C p.E1315D Missense 13/50 - 1
7-91651659-A-G c.3945A>G p.E1315= Synonymous 13/50 - 1
7-91651660-G-A c.3946G>A p.D1316N Missense 13/50 - 1
7-91651672-T-G c.3952+6T>G - IntronicSNV - 13/49 1
7-91651773-C-T c.3952+107C>T - IntronicSNV - 13/49 1
7-91652130-G-A c.3955G>A p.V1319I Missense 14/50 - 2
7-91652133-A-G c.3958A>G p.N1320D Missense 14/50 - 1
7-91652141-A-C c.3966A>C p.K1322N Missense 14/50 - 1
7-91652141-A-T c.3966A>T p.K1322N Missense 14/50 - 1
7-91652155-C-A c.3980C>A p.S1327Y Missense 14/50 - 1
7-91652157-C-T c.3982C>T p.L1328= Synonymous 14/50 - 1
7-91652159-G-A c.3984G>A p.L1328= Synonymous 14/50 - 1
7-91652159-G-C c.3984G>C p.L1328= Synonymous 14/50 - 1
7-91652159-G-T c.3984G>T p.L1328= Synonymous 14/50 - 1
7-91652165-T-A c.3990T>A p.D1330E Missense 14/50 - 1
7-91652165-T-G c.3990T>G p.D1330E Missense 14/50 - 1
7-91652166-C-A c.3991C>A p.L1331I Missense 14/50 - 1
7-91652166-C-T c.3991C>T p.L1331F Missense 14/50 - 1
7-91652167-T-C c.3992T>C p.L1331P Missense 14/50 - 1
7-91652173-A-C c.3998A>C p.K1333T Missense 14/50 - 1
7-91652174-A-C c.3999A>C p.K1333N Missense 14/50 - 1
7-91652175-A-T c.4000A>T p.T1334S Missense 14/50 - 1
7-91652176-C-A c.4001C>A p.T1334N Missense 14/50 - 3
7-91652178-A-AAAC c.4004_4006dup p.K1335_L1336insQ InFrameInsertion 14/50 - 25
7-91652179-A-G c.4004A>G p.K1335R Missense 14/50 - 1
7-91652179-A-T c.4004A>T p.K1335I Missense 14/50 - 1
7-91652179-A-AAAC c.4005_4006insACA p.K1335_L1336insT InFrameInsertion 14/50 - 6
7-91652179-A-AACG c.4006_4007insGAC p.K1335_L1336insR InFrameInsertion 14/50 - 1
7-91652180-A-ACAC c.4006_4007insACC p.K1335_L1336insH InFrameInsertion 14/50 - 2
7-91652181-C-CAAA c.4006_4007insAAA p.L1336delinsQI MultiAAMissense 14/50 - 1
7-91652181-C-CAAT c.4006_4007insAAT p.L1336delinsQF MultiAAMissense 14/50 - 1
7-91652182-TT-AA c.4007_4008inv p.L1336Q Missense 14/50 - 1
7-91652184-G-GAAC c.4011_4012insCAA p.E1337_E1338insQ InFrameInsertion 14/50 - 1
7-91652187-G-A c.4012G>A p.E1338K Missense 14/50 - 3
7-91652187-G-C c.4012G>C p.E1338Q Missense 14/50 - 1
7-91652189-A-C c.4014A>C p.E1338D Missense 14/50 - 1
7-91652193-G-A c.4018G>A p.V1340I Missense 14/50 - 1
7-91652196-C-T c.4021C>T p.Q1341* Nonsense 14/50 - 1
7-91652197-A-G c.4022A>G p.Q1341R Missense 14/50 - 1
7-91652199-G-C c.4024G>C p.E1342Q Missense 14/50 - 2
7-91652200-A-G c.4025A>G p.E1342G Missense 14/50 - 1
7-91652204-A-C c.4029A>C p.L1343F Missense 14/50 - 1
7-91652204-A-T c.4029A>T p.L1343F Missense 14/50 - 1
7-91652205-G-C c.4030G>C p.E1344Q Missense 14/50 - 1
7-91652210-C-T c.4035C>T p.S1345= Synonymous 14/50 - 1
7-91652213-C-A c.4038C>A p.L1346= Synonymous 14/50 - 3
7-91652213-C-G c.4038C>G p.L1346= Synonymous 14/50 - 3
7-91652213-C-T c.4038C>T p.L1346= Synonymous 14/50 - 3
7-91652214-A-AAAC c.4039_4040insAAC p.I1347delinsKL MultiAAMissense 14/50 - 2
7-91652224-T-A c.4049T>A p.L1350* Nonsense 14/50 - 1
7-91652226-C-T c.4051C>T p.Q1351* Nonsense 14/50 - 1
7-91652227-A-G c.4052A>G p.Q1351R Missense 14/50 - 2
7-91652229-C-G c.4054C>G p.Q1352E Missense 14/50 - 2
7-91652233-A-G c.4058A>G p.Q1353R Missense 14/50 - 1
7-91652237-G-C c.4062G>C p.L1354F Missense 14/50 - 1
7-91652238-A-C c.4063A>C p.K1355Q Missense 14/50 - 1
7-91652241-G-C c.4066G>C p.E1356Q Missense 14/50 - 4
7-91652245-C-G c.4070C>G p.T1357S Missense 14/50 - 1
7-91652246-T-A c.4071T>A p.T1357= Synonymous 14/50 - 1
7-91652246-T-C c.4071T>C p.T1357= Synonymous 14/50 - 1
7-91652246-T-G c.4071T>G p.T1357= Synonymous 14/50 - 1
7-91652250-C-T c.4075C>T p.Q1359* Nonsense 14/50 - 1
7-91652250-CA-C c.4079del p.N1360Tfs*31 Frameshift 14/50 - 2
7-91652254-A-C c.4079A>C p.N1360T Missense 14/50 - 1
7-91652255-C-T c.4080C>T p.N1360= Synonymous 14/50 - 1
7-91652257-A-G c.4082A>G p.Y1361C Missense 14/50 - 1
7-91652265-G-C c.4090G>C p.E1364Q Missense 14/50 - 1
7-91652268-A-T c.4093A>T p.I1365F Missense 14/50 - 1
7-91652272-A-G c.4097A>G p.H1366R Missense 14/50 - 1
7-91652275-G-A c.4100G>A p.C1367Y Missense 14/50 - 1
7-91652286-A-G c.4111A>G p.R1371G Missense 14/50 - 1
7-91652286-AGG-CAT c.4111_4113delinsCAT p.R1371H Missense 14/50 - 1
7-91652292-C-G c.4117C>G p.Q1373E Missense 14/50 - 1
7-91652292-C-T c.4117C>T p.Q1373* Nonsense 14/50 - 3
7-91652294-A-G c.4119A>G p.Q1373= Synonymous 14/50 - 1
7-91652296-C-T c.4121C>T p.A1374V Missense 14/50 - 2
7-91652301-AG-CT c.4126_4127inv p.S1376L Missense 14/50 - 1
7-91652302-G-C c.4127G>C p.S1376T Missense 14/50 - 8
7-91652303-TGAGTCCACG-T c.4130_4138del p.E1377_T1379del InFrameDeletion 14/50 - 1
7-91652308-C-T c.4133C>T p.S1378F Missense 14/50 - 1
7-91652311-C-T c.4136C>T p.T1379M Missense 14/50 - 1
7-91652312-G-A c.4137G>A p.T1379= Synonymous 14/50 - 2
7-91652316-C-T c.4141C>T p.P1381S Missense 14/50 - 1
7-91652317-C-T c.4142C>T p.P1381L Missense 14/50 - 1
7-91652318-G-A c.4143G>A p.P1381= Synonymous 14/50 - 2
7-91652318-G-C c.4143G>C p.P1381= Synonymous 14/50 - 2
7-91652318-G-T c.4143G>T p.P1381= Synonymous 14/50 - 2
7-91652332-C-T c.4148+9C>T - IntronicSNV - 14/49 1
7-91653753-GTA-G c.4148+1444_4148+1445del - IntronicDeletion - 14/49 1
7-91654617-C-T c.4148+2294C>T - IntronicSNV - 14/49 1
7-91656948-T-A c.4149-2261T>A - IntronicSNV - 14/49 1
7-91656948-T-G c.4149-2261T>G - IntronicSNV - 14/49 1
7-91657116-A-G c.4149-2093A>G - IntronicSNV - 14/49 1
7-91657672-G-A c.4149-1537G>A - IntronicSNV - 14/49 1
7-91657672-G-T c.4149-1537G>T - IntronicSNV - 14/49 1
7-91659150-C-G c.4149-59C>G - IntronicSNV - 14/49 5
7-91659150-C-T c.4149-59C>T - IntronicSNV - 14/49 5
7-91659211-T-A c.4151T>A p.L1384* Nonsense 15/50 - 2
7-91659211-T-G c.4151T>G p.L1384* Nonsense 15/50 - 2
7-91659213-C-G c.4153C>G p.P1385A Missense 15/50 - 1
7-91659216-G-T c.4156G>T p.V1386F Missense 15/50 - 1
7-91659223-C-T c.4163C>T p.S1388L Missense 15/50 - 1
7-91659224-G-A c.4164G>A p.S1388= Synonymous 15/50 - 2
7-91659224-G-C c.4164G>C p.S1388= Synonymous 15/50 - 1
7-91659224-G-T c.4164G>T p.S1388= Synonymous 15/50 - 1
7-91659243-G-T c.4183G>T p.D1395Y Missense 15/50 - 1
7-91659248-A-C c.4188A>C p.A1396= Synonymous 15/50 - 1
7-91659248-A-G c.4188A>G p.A1396= Synonymous 15/50 - 2
7-91659248-A-T c.4188A>T p.A1396= Synonymous 15/50 - 1
7-91659249-C-G c.4189C>G p.Q1397E Missense 15/50 - 2
7-91659250-A-G c.4190A>G p.Q1397R Missense 15/50 - 4
7-91659259-T-C c.4199T>C p.M1400T Missense 15/50 - 9
7-91659264-C-T c.4204C>T p.P1402S Missense 15/50 - 2
7-91659267-G-T c.4207G>T p.G1403* Nonsense 15/50 - 2
7-91659268-G-A c.4208G>A p.G1403E Missense 15/50 - 2
7-91659276-G-A c.4216G>A p.V1406M Missense 15/50 - 1
7-91659276-G-C c.4216G>C p.V1406L Missense 15/50 - 1
7-91659278-G-A c.4218G>A p.V1406= Synonymous 15/50 - 1
7-91659278-G-C c.4218G>C p.V1406= Synonymous 15/50 - 1
7-91659278-G-T c.4218G>T p.V1406= Synonymous 15/50 - 1
7-91659282-A-T c.4222A>T p.K1408* Nonsense 15/50 - 5
7-91659289-T-C c.4229T>C p.I1410T Missense 15/50 - 1
7-91659318-T-G c.4245+13T>G - IntronicSNV - 15/49 1
7-91660053-A-G c.4245+748A>G - IntronicSNV - 15/49 2
7-91660827-T-G c.4247T>G p.F1416C Missense 16/50 - 1
7-91660833-G-A c.4253G>A p.G1418D Missense 16/50 - 1
7-91660833-G-C c.4253G>C p.G1418A Missense 16/50 - 1
7-91660835-G-A c.4255G>A p.E1419K Missense 16/50 - 1
7-91660852-G-A c.4272G>A p.E1424= Synonymous 16/50 - 1
7-91660853-G-A c.4273G>A p.E1425K Missense 16/50 - 1
7-91660854-A-G c.4274A>G p.E1425G Missense 16/50 - 7
7-91660864-C-T c.4284C>T p.I1428= Synonymous 16/50 - 2
7-91660865-G-A c.4285G>A p.V1429I Missense 16/50 - 2
7-91660865-GTT-ATG c.4285_4287delinsATG p.V1429M Missense 16/50 - 1
7-91660877-G-C c.4297G>C p.E1433Q Missense 16/50 - 1
7-91660883-C-T c.4303C>T p.Q1435* Nonsense 16/50 - 1
7-91660887-A-G c.4307A>G p.Y1436C Missense 16/50 - 1
7-91660889-C-A c.4309C>A p.Q1437K Missense 16/50 - 2
7-91660895-C-G c.4315C>G p.Q1439E Missense 16/50 - 2
7-91660897-A-C c.4317A>C p.Q1439H Missense 16/50 - 1
7-91660897-A-T c.4317A>T p.Q1439H Missense 16/50 - 1
7-91660898-T-G c.4318T>G p.L1440V Missense 16/50 - 1
7-91660902-A-C c.4322A>C p.E1441A Missense 16/50 - 1
7-91660899-TAGA-T c.4328_4330del p.E1443del InFrameDeletion 16/50 - 1
7-91660908-A-T c.4328A>T p.E1443V Missense 16/50 - 2
7-91660911-T-C c.4331T>C p.V1444A Missense 16/50 - 1
7-91660911-T-G c.4331T>G p.V1444G Missense 16/50 - 1
7-91660916-A-C c.4336A>C p.K1446Q Missense 16/50 - 1
7-91661111-G-C c.4338+193G>C - IntronicSNV - 16/49 2
7-91662076-AT-A c.4338+1168del - IntronicDeletion - 16/49 1
7-91663031-C-T c.4338+2113C>T - IntronicSNV - 16/49 1
7-91666369-C-G c.4339-1364C>G - IntronicSNV - 16/49 3
7-91666369-C-T c.4339-1364C>T - IntronicSNV - 16/49 3
7-91666661-A-C c.4339-1072A>C - IntronicSNV - 16/49 1
7-91667692-T-G c.4339-41T>G - IntronicSNV - 16/49 6
7-91667734-T-C c.4340T>C p.V1447A Missense 17/50 - 1
7-91667736-A-G c.4342A>G p.I1448V Missense 17/50 - 6
7-91667736-A-T c.4342A>T p.I1448F Missense 17/50 - 1
7-91667740-T-A c.4346T>A p.V1449E Missense 17/50 - 3
7-91667740-T-C c.4346T>C p.V1449A Missense 17/50 - 1
7-91667745-A-G c.4351A>G p.M1451V Missense 17/50 - 2
7-91667747-G-A c.4353G>A p.M1451I Missense 17/50 - 1
7-91667747-G-C c.4353G>C p.M1451I Missense 17/50 - 1
7-91667747-G-T c.4353G>T p.M1451I Missense 17/50 - 1
7-91667749-G-A c.4355G>A p.S1452N Missense 17/50 - 1
7-91667748-A-C c.4354A>C p.S1452R Missense 17/50 - 1
7-91667750-GTAT-G c.4356_4358del p.S1452_I1453delinsR MultiAAMissense 17/50 - 1
7-91667750-T-A c.4356T>A p.S1452R Missense 17/50 - 1
7-91667750-T-G c.4356T>G p.S1452R Missense 17/50 - 1
7-91667751-A-G c.4357A>G p.I1453V Missense 17/50 - 1
7-91667754-G-A c.4360G>A p.A1454T Missense 17/50 - 2
7-91667761-C-A c.4367C>A p.A1456D Missense 17/50 - 1
7-91667763-C-T c.4369C>T p.Q1457* Nonsense 17/50 - 1
7-91667766-C-T c.4372C>T p.Q1458* Nonsense 17/50 - 1
7-91667772-G-C c.4378G>C p.E1460Q Missense 17/50 - 1
7-91667774-A-G c.4380A>G p.E1460= Synonymous 17/50 - 1
7-91667779-C-T c.4385C>T p.S1462F Missense 17/50 - 1
7-91667782-G-A c.4388G>A p.R1463K Missense 17/50 - 2
7-91667790-G-A c.4396G>A p.G1466R Missense 17/50 - 1
7-91667790-G-C c.4396G>C p.G1466R Missense 17/50 - 1
7-91667790-G-T c.4396G>T p.G1466W Missense 17/50 - 1
7-91667793-G-A c.4399G>A p.G1467R Missense 17/50 - 1
7-91667793-G-C c.4399G>C p.G1467R Missense 17/50 - 1
7-91667789-TG-T c.4400del p.G1467Efs*25 Frameshift 17/50 - 2
7-91667800-A-G c.4406A>G p.E1469G Missense 17/50 - 1
7-91667804-T-A c.4410T>A p.N1470K Missense 17/50 - 1
7-91667804-T-G c.4410T>G p.N1470K Missense 17/50 - 1
7-91667805-AC-TG c.4411_4412delinsTG p.T1471C Missense 17/50 - 1
7-91667806-C-T c.4412C>T p.T1471I Missense 17/50 - 1
7-91667815-C-T c.4421C>T p.S1474L Missense 17/50 - 1
7-91667820-C-A c.4426C>A p.Q1476K Missense 17/50 - 1
7-91667820-C-T c.4426C>T p.Q1476* Nonsense 17/50 - 1
7-91667821-A-G c.4427A>G p.Q1476R Missense 17/50 - 1
7-91667822-A-C c.4428A>C p.Q1476H Missense 17/50 - 1
7-91667829-G-A c.4435G>A p.A1479T Missense 17/50 - 1
7-91667832-G-A c.4438G>A p.V1480M Missense 17/50 - 1
7-91667832-G-C c.4438G>C p.V1480L Missense 17/50 - 1
7-91667832-G-T c.4438G>T p.V1480L Missense 17/50 - 1
7-91667844-G-A c.4450G>A p.E1484K Missense 17/50 - 1
7-91667845-A-C c.4451A>C p.E1484A Missense 17/50 - 1
7-91667849-A-G c.4455A>G p.Q1485= Synonymous 17/50 - 1
7-91667850-C-T c.4456C>T p.H1486Y Missense 17/50 - 1
7-91667871-T-C c.4477T>C p.L1493= Synonymous 17/50 - 2
7-91667879-G-A c.4485G>A p.Q1495= Synonymous 17/50 - 2
7-91667879-G-T c.4485G>T p.Q1495H Missense 17/50 - 1
7-91667880-G-T c.4486G>T p.D1496Y Missense 17/50 - 1
7-91667886-A-G c.4492A>G p.I1498V Missense 17/50 - 1
7-91667887-T-A c.4493T>A p.I1498N Missense 17/50 - 1
7-91667904-G-A c.4510G>A p.E1504K Missense 17/50 - 2
7-91667905-A-G c.4511A>G p.E1504G Missense 17/50 - 1
7-91667913-G-C c.4519G>C p.D1507H Missense 17/50 - 4
7-91667926-A-C c.4532A>C p.K1511T Missense 17/50 - 1
7-91667931-G-A c.4537G>A p.E1513K Missense 17/50 - 1
7-91667932-A-G c.4538A>G p.E1513G Missense 17/50 - 1
7-91667941-C-A c.4547C>A p.P1516Q Missense 17/50 - 1
7-91667952-G-A c.4558G>A p.E1520K Missense 17/50 - 1
7-91667961-G-T c.4567G>T p.E1523* Nonsense 17/50 - 1
7-91667971-A-C c.4577A>C p.K1526T Missense 17/50 - 1
7-91667972-G-A c.4578G>A p.K1526= Synonymous 17/50 - 1
7-91667972-G-T c.4578G>T p.K1526N Missense 17/50 - 1
7-91667975-A-G c.4581A>G p.E1527= Synonymous 17/50 - 1
7-91667980-T-A c.4586T>A p.L1529* Nonsense 17/50 - 2
7-91667980-T-C c.4586T>C p.L1529S Missense 17/50 - 1
7-91667980-T-G c.4586T>G p.L1529* Nonsense 17/50 - 4
7-91667987-A-C c.4593A>C p.S1531= Synonymous 17/50 - 1
7-91667987-A-G c.4593A>G p.S1531= Synonymous 17/50 - 1
7-91667987-A-T c.4593A>T p.S1531= Synonymous 17/50 - 1
7-91667988-A-C c.4594A>C p.N1532H Missense 17/50 - 1
7-91667992-G-A c.4598G>A p.S1533N Missense 17/50 - 1
7-91667998-C-G c.4604C>G p.P1535R Missense 17/50 - 1
7-91668004-A-C c.4610A>C p.D1537A Missense 17/50 - 1
7-91668007-T-C c.4613T>C p.I1538T Missense 17/50 - 1
7-91668011-A-G c.4617A>G p.P1539= Synonymous 17/50 - 1
7-91668013-A-G c.4619A>G p.E1540G Missense 17/50 - 1
7-91668020-G-T c.4626G>T p.K1542N Missense 17/50 - 1
7-91668024-T-A c.4630T>A p.C1544S Missense 17/50 - 1
7-91668024-TG-AC c.4630_4631delinsAC p.C1544T Missense 17/50 - 1
7-91668025-G-C c.4631G>C p.C1544S Missense 17/50 - 1
7-91668029-GCTGA-G c.4638_4641del p.T1547Ffs*13 Frameshift 17/50 - 4
7-91668039-T-G c.4645T>G p.S1549A Missense 17/50 - 1
7-91668040-C-A c.4646C>A p.S1549* Nonsense 17/50 - 1
7-91668040-C-G c.4646C>G p.S1549* Nonsense 17/50 - 3
7-91668042-G-A c.4648G>A p.E1550K Missense 17/50 - 3
7-91668045-G-C c.4651G>C p.E1551Q Missense 17/50 - 1
7-91668054-T-C c.4660T>C p.S1554P Missense 17/50 - 1
7-91668055-C-G c.4661C>G p.S1554C Missense 17/50 - 1
7-91668056-C-A c.4662C>A p.S1554= Synonymous 17/50 - 1
7-91668056-C-G c.4662C>G p.S1554= Synonymous 17/50 - 1
7-91668056-C-T c.4662C>T p.S1554= Synonymous 17/50 - 1
7-91668064-A-C c.4670A>C p.K1557T Missense 17/50 - 3
7-91668067-CATTT-C c.4676_4679del p.F1559* Frameshift 17/50 - 1
7-91668070-T-G c.4676T>G p.F1559C Missense 17/50 - 1
7-91668077-T-TGA c.4683_4684insGA p.R1562Efs*20 Frameshift 17/50 - 1
7-91668079-G-C c.4685G>C p.R1562T Missense 17/50 - 1
7-91668080-A-G c.4686A>G p.R1562= Synonymous 17/50 - 1
7-91668080-ACAGT-A c.4688_4691del p.Q1563Lfs*17 SpliceDonorDeletion 17/50 - 1
7-91668085-C-A c.4691C>A p.S1564Y Missense 17/50 - 1
7-91668086-T-TATTCATGATGAGATTTCA c.4692_4692+1insATTCATGATGAGATTTCA p.I1565_S1570dup SpliceDonorInsertion - - 1
7-91668118-A-C c.4692+32A>C - IntronicSNV - 17/49 1
7-91668365-G-A c.4692+279G>A - IntronicSNV - 17/49 2
7-91668365-G-T c.4692+279G>T - IntronicSNV - 17/49 1
7-91669808-G-A c.4693-180G>A - IntronicSNV - 17/49 1
7-91669961-T-TTG c.4693-26_4693-25insGT - IntronicInsertion - 17/49 2
7-91669990-T-G c.4695T>G p.I1565M Missense 18/50 - 1
7-91669991-C-A c.4696C>A p.H1566N Missense 18/50 - 3
7-91670002-T-G c.4707T>G p.I1569M Missense 18/50 - 2
7-91670003-TC-AA c.4708_4709delinsAA p.S1570K Missense 18/50 - 2
7-91670004-C-A c.4709C>A p.S1570* Nonsense 18/50 - 1
7-91670004-C-G c.4709C>G p.S1570* Nonsense 18/50 - 1
7-91670004-C-T c.4709C>T p.S1570L Missense 18/50 - 25
7-91670013-G-C c.4718G>C p.S1573T Missense 18/50 - 1
7-91670018-G-T c.4723G>T p.D1575Y Missense 18/50 - 1
7-91670024-T-G c.4729T>G p.S1577A Missense 18/50 - 1
7-91670025-C-T c.4730C>T p.S1577F Missense 18/50 - 1
7-91670028-G-A c.4733G>A p.R1578K Missense 18/50 - 1
7-91670039-T-C c.4744T>C p.L1582= Synonymous 18/50 - 2
7-91670041-G-A c.4746G>A p.L1582= Synonymous 18/50 - 2
7-91670042-A-T c.4747A>T p.N1583Y Missense 18/50 - 1
7-91670043-A-G c.4748A>G p.N1583S Missense 18/50 - 1
7-91670049-A-C c.4754A>C p.E1585A Missense 18/50 - 3
7-91670051-C-A c.4756C>A p.Q1586K Missense 18/50 - 1
7-91670060-G-A c.4765G>A p.D1589N Missense 18/50 - 1
7-91670060-G-C c.4765G>C p.D1589H Missense 18/50 - 1
7-91670078-G-C c.4783G>C p.V1595L Missense 18/50 - 1
7-91670078-G-T c.4783G>T p.V1595L Missense 18/50 - 1
7-91670079-T-C c.4784T>C p.V1595A Missense 18/50 - 1
7-91670082-G-A c.4787G>A p.R1596Q Missense 18/50 - 1
7-91670082-GA-AT c.4787_4788delinsAT p.R1596H Missense 18/50 - 1
7-91670090-C-A c.4795C>A p.Q1599K Missense 18/50 - 1
7-91670100-A-G c.4805A>G p.Q1602R Missense 18/50 - 1
7-91670101-A-G c.4806A>G p.Q1602= Synonymous 18/50 - 1
7-91670109-C-T c.4814C>T p.T1605M Missense 18/50 - 2
7-91670117-T-G c.4822T>G p.L1608V Missense 18/50 - 1
7-91670120-AG-CA c.4825_4826delinsCA p.R1609Q Missense 18/50 - 1
7-91670121-G-A c.4826G>A p.R1609K Missense 18/50 - 4
7-91670124-A-G c.4829A>G p.Q1610R Missense 18/50 - 1
7-91670127-C-A c.4832C>A p.A1611E Missense 18/50 - 1
7-91670132-A-G c.4837A>G p.M1613V Missense 18/50 - 2
7-91670133-T-A c.4838T>A p.M1613K Missense 18/50 - 1
7-91670134-G-A c.4839G>A p.M1613I Missense 18/50 - 2
7-91670134-G-C c.4839G>C p.M1613I Missense 18/50 - 1
7-91670134-G-T c.4839G>T p.M1613I Missense 18/50 - 1
7-91670135-C-T c.4840C>T p.R1614W Missense 18/50 - 1
7-91670136-G-A c.4841G>A p.R1614Q Missense 18/50 - 8
7-91670136-G-C c.4841G>C p.R1614P Missense 18/50 - 4
7-91670145-A-T c.4850A>T p.E1617V Missense 18/50 - 1
7-91670146-G-A c.4851G>A p.E1617= Synonymous 18/50 - 1
7-91670147-AG-CA c.4852_4853delinsCA p.R1618Q Missense 18/50 - 1
7-91670147-A-C c.4852A>C p.R1618= Synonymous 18/50 - 2
7-91670149-A-G c.4854A>G p.R1618= Synonymous 18/50 - 2
7-91670151-A-G c.4856A>G p.Q1619R Missense 18/50 - 1
7-91670153-C-A c.4858C>A p.R1620= Synonymous 18/50 - 1
7-91670153-C-T c.4858C>T p.R1620* Nonsense 18/50 - 3
7-91670155-A-C c.4860A>C p.R1620= Synonymous 18/50 - 1
7-91670155-A-G c.4860A>G p.R1620= Synonymous 18/50 - 1
7-91670155-A-T c.4860A>T p.R1620= Synonymous 18/50 - 1
7-91670171-C-A c.4876C>A p.L1626I Missense 18/50 - 1
7-91670171-CTA-ATG c.4876_4878delinsATG p.L1626M Missense 18/50 - 1
7-91670178-A-G c.4883A>G p.E1628G Missense 18/50 - 1
7-91670180-G-A c.4885G>A p.E1629K Missense 18/50 - 1
7-91670180-G-C c.4885G>C p.E1629Q Missense 18/50 - 1
7-91670181-A-T c.4886A>T p.E1629V Missense 18/50 - 1
7-91670183-A-G c.4888A>G p.I1630V Missense 18/50 - 1
7-91670189-AGA-TGT c.4894_4896delinsTGT p.R1632C Missense 18/50 - 4
7-91670189-AG-CA c.4894_4895delinsCA p.R1632Q Missense 18/50 - 1
7-91670196-A-C c.4901A>C p.N1634T Missense 18/50 - 1
7-91670207-G-A c.4912G>A p.A1638T Missense 18/50 - 2
7-91670248-AT-A c.4917+45del - IntronicDeletion - 18/49 1
7-91670309-G-T c.4917+97G>T - IntronicSNV - 18/49 1
7-91670318-A-AT c.4917+121dup - IntronicInsertion - 18/49 1
7-91670318-AT-A c.4917+121del - IntronicDeletion - 18/49 1
7-91670998-T-C c.4918-362T>C - IntronicSNV - 18/49 1
7-91671007-A-G c.4918-353A>G - IntronicSNV - 18/49 1
7-91671020-A-G c.4918-340A>G - IntronicSNV - 18/49 2
7-91671360-AGA-TGG c.4918_4920delinsTGG p.R1640W Missense 19/50 - 1
7-91671360-AG-CA c.4918_4919delinsCA p.R1640Q Missense 19/50 - 1
7-91671363-TC-AT c.4921_4922delinsAT p.S1641I Missense 19/50 - 1
7-91671364-C-T c.4922C>T p.S1641F Missense 19/50 - 1
7-91671368-C-A c.4926C>A p.S1642= Synonymous 19/50 - 1
7-91671369-A-C c.4927A>C p.I1643L Missense 19/50 - 5
7-91671369-A-T c.4927A>T p.I1643L Missense 19/50 - 2
7-91671372-G-C c.4930G>C p.D1644H Missense 19/50 - 1
7-91671378-G-A c.4936G>A p.E1646K Missense 19/50 - 1
7-91671380-A-C c.4938A>C p.E1646D Missense 19/50 - 1
7-91671380-A-T c.4938A>T p.E1646D Missense 19/50 - 1
7-91671387-G-A c.4945G>A p.V1649I Missense 19/50 - 1
7-91671398-A-C c.4956A>C p.R1652S Missense 19/50 - 1
7-91671398-A-T c.4956A>T p.R1652S Missense 19/50 - 1
7-91671401-G-A c.4959G>A p.E1653= Synonymous 19/50 - 1
7-91671401-G-C c.4959G>C p.E1653D Missense 19/50 - 1
7-91671401-G-T c.4959G>T p.E1653D Missense 19/50 - 1
7-91671391-CAG-C c.4960_4961del p.R1654Gfs*23 Frameshift 19/50 - 4
7-91671402-A-G c.4960A>G p.R1654G Missense 19/50 - 2
7-91671402-AGG-TGT c.4960_4962delinsTGT p.R1654C Missense 19/50 - 2
7-91671405-G-C c.4963G>C p.V1655L Missense 19/50 - 1
7-91671405-G-GAA c.4963_4964insAA p.V1655Efs*4 Frameshift 19/50 - 1
7-91671405-G-T c.4963G>T p.V1655L Missense 19/50 - 2
7-91671411-TTA-CAT c.4969_4971delinsCAT p.L1657H Missense 19/50 - 1
7-91671420-C-A c.4978C>A p.L1660M Missense 19/50 - 1
7-91671427-C-T c.4985C>T p.A1662V Missense 19/50 - 3
7-91671427-C-CAG c.4986_4987insGA p.L1663Dfs*2 Frameshift 19/50 - 2
7-91671432-A-G c.4990A>G p.K1664E Missense 19/50 - 1
7-91671438-C-A c.4996C>A p.L1666M Missense 19/50 - 1
7-91671438-GCT-G c.4996_4997del p.L1666Vfs*11 Frameshift 19/50 - 1
7-91671438-C-T c.4996C>T p.L1666= Synonymous 19/50 - 2
7-91671440-G-A c.4998G>A p.L1666= Synonymous 19/50 - 3
7-91671440-G-C c.4998G>C p.L1666= Synonymous 19/50 - 2
7-91671440-G-T c.4998G>T p.L1666= Synonymous 19/50 - 2
7-91671448-C-A c.5006C>A p.A1669D Missense 19/50 - 1
7-91671452-GAAGA-G c.5010_5013del p.E1672Sfs*33 Frameshift 19/50 - 1
7-91671474-C-A c.5032C>A p.L1678M Missense 19/50 - 1
7-91671474-C-G c.5032C>G p.L1678V Missense 19/50 - 1
7-91671474-C-T c.5032C>T p.L1678= Synonymous 19/50 - 1
7-91671476-G-A c.5034G>A p.L1678= Synonymous 19/50 - 1
7-91671476-G-C c.5034G>C p.L1678= Synonymous 19/50 - 1
7-91671476-G-T c.5034G>T p.L1678= Synonymous 19/50 - 1
7-91671477-C-T c.5035C>T p.R1679C Missense 19/50 - 4
7-91671478-G-A c.5036G>A p.R1679H Missense 19/50 - 3
7-91671487-G-A c.5045G>A p.S1682N Missense 19/50 - 1
7-91671490-C-T c.5048C>T p.T1683M Missense 19/50 - 5
7-91671491-G-A c.5049G>A p.T1683= Synonymous 19/50 - 1
7-91671491-G-C c.5049G>C p.T1683= Synonymous 19/50 - 1
7-91671491-G-T c.5049G>T p.T1683= Synonymous 19/50 - 1
7-91671492-C-T c.5050C>T p.Q1684* Nonsense 19/50 - 1
7-91671500-G-T c.5058G>T p.Q1686H Missense 19/50 - 1
7-91671853-C-A c.5059-129C>A - IntronicSNV - 19/49 4
7-91671984-T-C c.5061T>C p.N1687= Synonymous 20/50 - 1
7-91671998-A-G c.5075A>G p.Q1692R Missense 20/50 - 1
7-91672001-G-T c.5078G>T p.G1693V Missense 20/50 - 1
7-91672007-T-C c.5084T>C p.V1695A Missense 20/50 - 1
7-91672008-T-C c.5085T>C p.V1695= Synonymous 20/50 - 1
7-91672009-G-A c.5086G>A p.E1696K Missense 20/50 - 1
7-91672014-A-G c.5091A>G p.E1697= Synonymous 20/50 - 3
7-91672026-A-C c.5103A>C p.K1701N Missense 20/50 - 1
7-91672026-A-T c.5103A>T p.K1701N Missense 20/50 - 2
7-91672027-G-A c.5104G>A p.E1702K Missense 20/50 - 2
7-91672028-A-T c.5105A>T p.E1702V Missense 20/50 - 2
7-91672035-A-T c.5112A>T p.E1704D Missense 20/50 - 1
7-91672040-A-G c.5117A>G p.D1706G Missense 20/50 - 3
7-91672046-A-G c.5123A>G p.K1708R Missense 20/50 - 1
7-91672047-A-C c.5124A>C p.K1708N Missense 20/50 - 2
7-91672047-A-T c.5124A>T p.K1708N Missense 20/50 - 1
7-91672051-G-A c.5128G>A p.E1710K Missense 20/50 - 2
7-91672052-A-T c.5129A>T p.E1710V Missense 20/50 - 1
7-91672054-G-C c.5131G>C p.D1711H Missense 20/50 - 2
7-91672057-G-A c.5134G>A p.V1712M Missense 20/50 - 1
7-91672063-C-T c.5140C>T p.P1714S Missense 20/50 - 1
7-91672073-T-C c.5150T>C p.L1717S Missense 20/50 - 3
7-91672081-GA-G c.5161del p.R1721Gfs*12 Frameshift 20/50 - 1
7-91672085-G-A c.5162G>A p.R1721K Missense 20/50 - 3
7-91672166-T-C c.5162+81T>C - IntronicSNV - 20/49 1
7-91674302-G-A c.5163-20G>A - IntronicSNV - 20/49 9
7-91674323-T-C c.5164T>C p.Y1722H Missense 21/50 - 2
7-91674326-G-T c.5167G>T p.A1723S Missense 21/50 - 1
7-91674340-TA-T c.5183del p.N1728Ifs*5 Frameshift 21/50 - 1
7-91674348-G-A c.5189G>A p.R1730K Missense 21/50 - 1
7-91674350-C-G c.5191C>G p.L1731V Missense 21/50 - 1
7-91674362-C-T c.5203C>T p.L1735F Missense 21/50 - 1
7-91674381-C-A c.5222C>A p.T1741K Missense 21/50 - 1
7-91674385-A-G c.5226A>G p.T1742= Synonymous 21/50 - 1
7-91674387-C-T c.5228C>T p.A1743V Missense 21/50 - 2
7-91674390-C-T c.5231C>T p.A1744V Missense 21/50 - 2
7-91674396-A-C c.5237A>C p.E1746A Missense 21/50 - 1
7-91674405-T-C c.5246T>C p.I1749T Missense 21/50 - 10
7-91674405-T-G c.5246T>G p.I1749S Missense 21/50 - 1
7-91674410-C-T c.5251C>T p.R1751C Missense 21/50 - 4
7-91674411-G-T c.5252G>T p.R1751L Missense 21/50 - 1
7-91674418-C-T c.5259C>T p.V1753= Synonymous 21/50 - 2
7-91674419-C-T c.5260C>T p.L1754F Missense 21/50 - 5
7-91674423-G-T c.5264G>T p.G1755V Missense 21/50 - 1
7-91674425-AT-A c.5268del p.L1757* Frameshift 21/50 - 1
7-91674429-T-G c.5270T>G p.L1757R Missense 21/50 - 1
7-91674431-G-C c.5272G>C p.D1758H Missense 21/50 - 1
7-91674435-G-A c.5276G>A p.R1759K Missense 21/50 - 1
7-91674438-C-A c.5279C>A p.S1760Y Missense 21/50 - 1
7-91674440-A-T c.5281A>T p.S1761C Missense 21/50 - 1
7-91674441-G-A c.5282G>A p.S1761N Missense 21/50 - 1
7-91674443-A-G c.5284A>G p.K1762E Missense 21/50 - 1
7-91674446-AG-CC c.5287_5288delinsCC p.S1763P Missense 21/50 - 1
7-91674447-G-A c.5288G>A p.S1763N Missense 21/50 - 2
7-91674450-A-G c.5291A>G p.Q1764R Missense 21/50 - 1
7-91674464-C-A c.5305C>A p.L1769I Missense 21/50 - 3
7-91674464-C-G c.5305C>G p.L1769V Missense 21/50 - 1
7-91674467-A-T c.5308A>T p.I1770F Missense 21/50 - 2
7-91674471-G-A c.5312G>A p.W1771* Nonsense 21/50 - 2
7-91674472-G-A c.5313G>A p.W1771* Nonsense 21/50 - 3
7-91674473-A-G c.5314A>G p.R1772G Missense 21/50 - 1
7-91674477-CA-GT c.5318_5319delinsGT p.S1773C Missense 21/50 - 1
7-91674483-C-T c.5324C>T p.A1775V Missense 21/50 - 1
7-91674492-C-T c.5333C>T p.S1778F Missense 21/50 - 2
7-91674494-G-C c.5335G>C p.V1779L Missense 21/50 - 1
7-91674494-G-T c.5335G>T p.V1779L Missense 21/50 - 1
7-91674497-A-T c.5338A>T p.K1780* Nonsense 21/50 - 1
7-91674500-T-A c.5341T>A p.S1781T Missense 21/50 - 4
7-91674501-C-T c.5342C>T p.S1781L Missense 21/50 - 4
7-91674510-A-G c.5351A>G p.H1784R Missense 21/50 - 4
7-91674510-A-AT c.5352dup p.E1785* Nonsense 21/50 - 1
7-91674515-G-A c.5356G>A p.E1786K Missense 21/50 - 1
7-91674515-G-T c.5356G>T p.E1786* Nonsense 21/50 - 1
7-91675139-C-A c.5368+612C>A - IntronicSNV - 21/49 1
7-91675139-C-T c.5368+612C>T - IntronicSNV - 21/49 1
7-91677290-C-T c.5368+2763C>T - IntronicSNV - 21/49 1
7-91679537-G-C c.5369-2503G>C - IntronicSNV - 21/49 1
7-91679537-G-T c.5369-2503G>T - IntronicSNV - 21/49 1
7-91682040-T-G c.5369T>G p.V1790G Missense 22/50 - 8
7-91682052-C-G c.5381C>G p.S1794C Missense 22/50 - 2
7-91682052-C-T c.5381C>T p.S1794F Missense 22/50 - 1
7-91682054-A-T c.5383A>T p.I1795F Missense 22/50 - 1
7-91682058-C-T c.5387C>T p.P1796L Missense 22/50 - 3
7-91682059-C-A c.5388C>A p.P1796= Synonymous 22/50 - 1
7-91682059-C-G c.5388C>G p.P1796= Synonymous 22/50 - 1
7-91682059-C-T c.5388C>T p.P1796= Synonymous 22/50 - 1
7-91682070-G-C c.5399G>C p.G1800A Missense 22/50 - 1
7-91682084-AG-CA c.5413_5414delinsCA p.R1805Q Missense 22/50 - 1
7-91682093-A-G c.5422A>G p.I1808V Missense 22/50 - 1
7-91682097-A-G c.5426A>G p.N1809S Missense 22/50 - 1
7-91682099-A-G c.5428A>G p.M1810V Missense 22/50 - 3
7-91682099-A-T c.5428A>T p.M1810L Missense 22/50 - 1
7-91682106-C-A c.5435C>A p.S1812* Nonsense 22/50 - 4
7-91682106-C-G c.5435C>G p.S1812* Nonsense 22/50 - 5
7-91682108-A-G c.5437A>G p.K1813E Missense 22/50 - 1
7-91682117-G-A c.5446G>A p.E1816K Missense 22/50 - 1
7-91682120-G-A c.5449G>A p.E1817K Missense 22/50 - 1
7-91682123-GGA-AGC c.5452_5454delinsAGC p.G1818S Missense 22/50 - 1
7-91682126-A-C c.5455A>C p.T1819P Missense 22/50 - 1
7-91682131-G-C c.5460G>C p.E1820D Missense 22/50 - 2
7-91682131-G-T c.5460G>T p.E1820D Missense 22/50 - 2
7-91682132-C-A c.5461C>A p.L1821M Missense 22/50 - 1
7-91682133-T-G c.5462T>G p.L1821R Missense 22/50 - 1
7-91682139-A-T c.5468A>T p.Q1823L Missense 22/50 - 1
7-91682141-C-T c.5470C>T p.R1824* Nonsense 22/50 - 1
7-91682142-G-T c.5471G>T p.R1824L Missense 22/50 - 1
7-91682145-T-C c.5474T>C p.L1825P Missense 22/50 - 1
7-91682150-A-C c.5479A>C p.R1827= Synonymous 22/50 - 1
7-91682152-G-A c.5481G>A p.R1827= Synonymous 22/50 - 1
7-91682159-T-G c.5488T>G p.F1830V Missense 22/50 - 1
7-91682165-G-A c.5494G>A p.G1832R Missense 22/50 - 1
7-91682165-GGA-AGC c.5494_5496delinsAGC p.G1832S Missense 22/50 - 1
7-91682167-A-C c.5496A>C p.G1832= Synonymous 22/50 - 1
7-91682167-A-G c.5496A>G p.G1832= Synonymous 22/50 - 1
7-91682167-A-T c.5496A>T p.G1832= Synonymous 22/50 - 1
7-91682177-G-T c.5506G>T p.D1836Y Missense 22/50 - 4
7-91682178-A-T c.5507A>T p.D1836V Missense 22/50 - 1
7-91682187-A-G c.5516A>G p.N1839S Missense 22/50 - 1
7-91682198-A-G c.5527A>G p.M1843V Missense 22/50 - 1
7-91682199-T-C c.5528T>C p.M1843T Missense 22/50 - 1
7-91682205-A-G c.5534A>G p.N1845S Missense 22/50 - 1
7-91682207-A-G c.5536A>G p.I1846V Missense 22/50 - 1
7-91682214-C-G c.5543C>G p.S1848C Missense 22/50 - 1
7-91682216-C-T c.5545C>T p.R1849* Nonsense 22/50 - 2
7-91682228-G-A c.5557G>A p.A1853T Missense 22/50 - 1
7-91682228-G-T c.5557G>T p.A1853S Missense 22/50 - 1
7-91682229-C-T c.5558C>T p.A1853V Missense 22/50 - 1
7-91682232-T-C c.5561T>C p.V1854A Missense 22/50 - 2
7-91682234-G-A c.5563G>A p.E1855K Missense 22/50 - 1
7-91682243-C-G c.5572C>G p.L1858V Missense 22/50 - 1
7-91682252-A-G c.5581A>G p.I1861V Missense 22/50 - 1
7-91682257-T-C c.5586T>C p.S1862= Synonymous 22/50 - 3
7-91682262-C-T c.5591C>T p.T1864I Missense 22/50 - 3
7-91682268-AG-A c.5597del p.S1866Ifs*8 Frameshift 22/50 - 1
7-91682268-G-A c.5597G>A p.S1866N Missense 22/50 - 1
7-91682267-A-C c.5596A>C p.S1866R Missense 22/50 - 8
7-91682269-T-A c.5598T>A p.S1866R Missense 22/50 - 6
7-91682269-T-G c.5598T>G p.S1866R Missense 22/50 - 6
7-91682272-G-GCTTGAACATGCGAAAGTGACACAGACAGAGTTGATGCGTGAGTCATTTAGACAGAAACAAGAAGCAACAGA c.5601_5601+1insCTTGAACATGCGAAAGTGACACAGACAGAGTTGATGCGTGAGTCATTTAGACAGAAACAAGAAGCAACAGA p.E1891Dfs*7 SpliceDonorInsertion - - 1
7-91682296-T-C c.5601+24T>C - IntronicSNV - 22/49 1
7-91682300-C-A c.5601+28C>A - IntronicSNV - 22/49 1
7-91683849-G-C c.5601+1577G>C - IntronicSNV - 22/49 1
7-91687351-A-G c.5602-3223A>G - IntronicSNV - 22/49 4
7-91687682-T-C c.5602-2892T>C - IntronicSNV - 22/49 1
7-91689351-C-G c.5602-1223C>G - IntronicSNV - 22/49 1
7-91690457-A-G c.5602-117A>G - IntronicSNV - 22/49 2
7-91690580-C-T c.5608C>T p.H1870Y Missense 23/50 - 1
7-91690583-G-A c.5611G>A p.A1871T Missense 23/50 - 1
7-91690584-C-T c.5612C>T p.A1871V Missense 23/50 - 1
7-91690585-G-A c.5613G>A p.A1871= Synonymous 23/50 - 2
7-91690585-G-C c.5613G>C p.A1871= Synonymous 23/50 - 2
7-91690585-G-T c.5613G>T p.A1871= Synonymous 23/50 - 2
7-91690586-A-G c.5614A>G p.K1872E Missense 23/50 - 2
7-91690591-G-A c.5619G>A p.V1873= Synonymous 23/50 - 2
7-91690591-G-C c.5619G>C p.V1873= Synonymous 23/50 - 2
7-91690591-G-T c.5619G>T p.V1873= Synonymous 23/50 - 2
7-91690593-CACAG-C c.5627_5630del p.T1876Sfs*2 Frameshift 23/50 - 2
7-91690599-C-T c.5627C>T p.T1876I Missense 23/50 - 1
7-91690603-G-C c.5631G>C p.E1877D Missense 23/50 - 1
7-91690603-G-T c.5631G>T p.E1877D Missense 23/50 - 1
7-91690608-T-C c.5636T>C p.M1879T Missense 23/50 - 2
7-91690613-G-A c.5641G>A p.E1881K Missense 23/50 - 1
7-91690617-C-A c.5645C>A p.S1882* Nonsense 23/50 - 1
7-91690622-AGA-TGT c.5650_5652delinsTGT p.R1884C Missense 23/50 - 1
7-91690625-C-A c.5653C>A p.Q1885K Missense 23/50 - 1
7-91690626-A-G c.5654A>G p.Q1885R Missense 23/50 - 1
7-91690627-G-A c.5655G>A p.Q1885= Synonymous 23/50 - 1
7-91690634-G-A c.5662G>A p.E1888K Missense 23/50 - 1
7-91690634-G-C c.5662G>C p.E1888Q Missense 23/50 - 2
7-91690634-GAAGC-G c.5665_5668del p.A1889Qfs*24 Frameshift 23/50 - 1
7-91690637-G-A c.5665G>A p.A1889T Missense 23/50 - 2
7-91690641-C-G c.5669C>G p.T1890R Missense 23/50 - 1
7-91690647-C-A c.5675C>A p.S1892Y Missense 23/50 - 1
7-91690649-C-G c.5677C>G p.L1893V Missense 23/50 - 7
7-91690652-A-G c.5680A>G p.K1894E Missense 23/50 - 2
7-91690656-G-A c.5684G>A p.C1895Y Missense 23/50 - 1
7-91690664-G-A c.5692G>A p.E1898K Missense 23/50 - 2
7-91690670-C-A c.5698C>A p.R1900= Synonymous 23/50 - 1
7-91690670-C-T c.5698C>T p.R1900* Nonsense 23/50 - 1
7-91690671-G-A c.5699G>A p.R1900Q Missense 23/50 - 1
7-91690676-C-T c.5704C>T p.R1902C Missense 23/50 - 1
7-91690677-G-A c.5705G>A p.R1902H Missense 23/50 - 2
7-91690677-GC-AA c.5705_5706delinsAA p.R1902Q Missense 23/50 - 1
7-91690679-C-G c.5707C>G p.L1903V Missense 23/50 - 1
7-91690682-C-G c.5710C>G p.H1904D Missense 23/50 - 1
7-91690682-C-T c.5710C>T p.H1904Y Missense 23/50 - 1
7-91690690-G-C c.5718G>C p.E1906D Missense 23/50 - 1
7-91690690-G-T c.5718G>T p.E1906D Missense 23/50 - 1
7-91690693-C-T c.5721C>T p.S1907= Synonymous 23/50 - 1
7-91690697-G-A c.5725G>A p.A1909T Missense 23/50 - 7
7-91690703-G-A c.5731G>A p.E1911K Missense 23/50 - 1
7-91690706-C-T c.5734C>T p.Q1912* Nonsense 23/50 - 1
7-91690709-C-G c.5737C>G p.L1913V Missense 23/50 - 2
7-91690715-G-T c.5743G>T p.V1915L Missense 23/50 - 1
7-91690718-G-C c.5746G>C p.E1916Q Missense 23/50 - 1
7-91690733-G-A c.5761G>A p.E1921K Missense 23/50 - 2
7-91690823-G-A c.5764+87G>A - IntronicSNV - 23/49 1
7-91691070-G-A c.5764+334G>A - IntronicSNV - 23/49 3
7-91691070-G-T c.5764+334G>T - IntronicSNV - 23/49 3
7-91691589-C-A c.5766C>A p.G1922= Synonymous 24/50 - 1
7-91691589-C-G c.5766C>G p.G1922= Synonymous 24/50 - 1
7-91691589-C-T c.5766C>T p.G1922= Synonymous 24/50 - 1
7-91691590-G-A c.5767G>A p.V1923I Missense 24/50 - 3
7-91691592-C-A c.5769C>A p.V1923= Synonymous 24/50 - 3
7-91691592-C-G c.5769C>G p.V1923= Synonymous 24/50 - 2
7-91691592-C-T c.5769C>T p.V1923= Synonymous 24/50 - 2
7-91691601-C-A c.5778C>A p.G1926= Synonymous 24/50 - 15
7-91691601-C-T c.5778C>T p.G1926= Synonymous 24/50 - 18
7-91691602-T-C c.5779T>C p.Y1927H Missense 24/50 - 1
7-91691609-A-AT c.5787dup p.E1930* Nonsense 24/50 - 1
7-91691610-T-A c.5787T>A p.D1929E Missense 24/50 - 2
7-91691610-T-G c.5787T>G p.D1929E Missense 24/50 - 1
7-91691618-C-T c.5795C>T p.T1932I Missense 24/50 - 1
7-91691619-T-C c.5796T>C p.T1932= Synonymous 24/50 - 1
7-91691620-C-A c.5797C>A p.L1933I Missense 24/50 - 1
7-91691621-T-A c.5798T>A p.L1933H Missense 24/50 - 1
7-91691627-A-C c.5804A>C p.E1935A Missense 24/50 - 1
7-91691630-G-T c.5807G>T p.R1936M Missense 24/50 - 1
7-91691637-T-G c.5814T>G p.I1938M Missense 24/50 - 1
7-91691638-C-T c.5815C>T p.Q1939* Nonsense 24/50 - 1
7-91691641-G-C c.5818G>C p.E1940Q Missense 24/50 - 1
7-91691641-G-T c.5818G>T p.E1940* Nonsense 24/50 - 1
7-91691646-A-C c.5823A>C p.K1941N Missense 24/50 - 1
7-91691646-A-T c.5823A>T p.K1941N Missense 24/50 - 1
7-91691641-GA-G c.5824del p.T1942Lfs*3 Frameshift 24/50 - 5
7-91691641-G-GA c.5824dup p.T1942Nfs*2 Frameshift 24/50 - 2
7-91691647-A-T c.5824A>T p.T1942S Missense 24/50 - 1
7-91691648-C-A c.5825C>A p.T1942N Missense 24/50 - 1
7-91691648-C-G c.5825C>G p.T1942S Missense 24/50 - 1
7-91691648-C-T c.5825C>T p.T1942I Missense 24/50 - 5
7-91691653-A-G c.5830A>G p.I1944V Missense 24/50 - 1
7-91691662-C-T c.5839C>T p.R1947C Missense 24/50 - 12
7-91691668-G-C c.5845G>C p.E1949Q Missense 24/50 - 1
7-91691674-G-A c.5851G>A p.E1951K Missense 24/50 - 1
7-91691674-G-C c.5851G>C p.E1951Q Missense 24/50 - 1
7-91691674-G-T c.5851G>T p.E1951* Nonsense 24/50 - 1
7-91691680-T-C c.5857T>C p.L1953= Synonymous 24/50 - 1
7-91691682-A-G c.5859A>G p.L1953= Synonymous 24/50 - 1
7-91691679-GTTA-G c.5858_5860del p.L1953del InFrameDeletion 24/50 - 1
7-91691686-G-A c.5863G>A p.A1955T Missense 24/50 - 1
7-91691687-C-A c.5864C>A p.A1955E Missense 24/50 - 1
7-91691687-C-T c.5864C>T p.A1955V Missense 24/50 - 1
7-91691687-C-CA c.5866dup p.S1956Kfs*2 Frameshift 24/50 - 1
7-91691695-AG-CA c.5872_5873delinsCA p.R1958Q Missense 24/50 - 1
7-91691696-G-A c.5873G>A p.R1958K Missense 24/50 - 1
7-91691695-A-C c.5872A>C p.R1958= Synonymous 24/50 - 1
7-91691697-G-A c.5874G>A p.R1958= Synonymous 24/50 - 1
7-91691701-GC-G c.5878del p.Q1960Kfs*24 Frameshift 24/50 - 1
7-91691703-A-C c.5880A>C p.Q1960H Missense 24/50 - 1
7-91691703-A-T c.5880A>T p.Q1960H Missense 24/50 - 1
7-91691704-G-C c.5881G>C p.E1961Q Missense 24/50 - 2
7-91691706-A-C c.5883A>C p.E1961D Missense 24/50 - 1
7-91691706-A-T c.5883A>T p.E1961D Missense 24/50 - 1
7-91691710-G-A c.5887G>A p.E1963K Missense 24/50 - 2
7-91691712-G-C c.5889G>C p.E1963D Missense 24/50 - 1
7-91691712-G-T c.5889G>T p.E1963D Missense 24/50 - 1
7-91691713-G-A c.5890G>A p.A1964T Missense 24/50 - 1
7-91691718-G-A c.5895G>A p.E1965= Synonymous 24/50 - 1
7-91691722-C-T c.5899C>T p.Q1967* Nonsense 24/50 - 1
7-91691728-A-G c.5905A>G p.I1969V Missense 24/50 - 1
7-91691734-G-C c.5911G>C p.E1971Q Missense 24/50 - 1
7-91691736-A-T c.5913A>T p.E1971D Missense 24/50 - 1
7-91691741-G-C c.5918G>C p.R1973T Missense 24/50 - 1
7-91691743-G-T c.5920G>T p.E1974* Nonsense 24/50 - 4
7-91691755-AGA-TGG c.5932_5934delinsTGG p.R1978W Missense 24/50 - 1
7-91691756-G-T c.5933G>T p.R1978I Missense 24/50 - 1
7-91691758-C-T c.5935C>T p.Q1979* Nonsense 24/50 - 1
7-91691761-A-T c.5938A>T p.K1980* Nonsense 24/50 - 1
7-91691764-G-GT c.5941_5942insT p.E1981Vfs*11 Frameshift 24/50 - 1
7-91691767-G-T c.5944G>T p.A1982S Missense 24/50 - 2
7-91691772-G-A c.5949G>A p.M1983I Missense 24/50 - 1
7-91691779-G-T c.5956G>T p.E1986* Nonsense 24/50 - 2
7-91691785-GGCCCAGTTGAACAAC-G c.5964_5977+1del - SpliceDonorDeletion 24/50 24/49 2
7-91691791-G-C c.5968G>C p.V1990L Missense 24/50 - 1
7-91691791-G-T c.5968G>T p.V1990F Missense 24/50 - 1
7-91691800-C-CAATTACTACAGGAGACAGAAAAATTAATGAAGGAAAAACTAGAA c.5977_5977+1insAATTACTACAGGAGACAGAAAAATTAATGAAGGAAAAACTAGAA p.V2008Nfs*9 SpliceDonorInsertion - - 1
7-91691800-C-T c.5977C>T p.Q1993* Nonsense 24/50 - 2
7-91691801-G-A c.5977+1G>A - IntronicSNV - 24/49 1
7-91691946-G-T c.5977+146G>T - IntronicSNV - 24/49 3
7-91692662-A-G c.5977+862A>G - IntronicSNV - 24/49 1
7-91692746-CTT-C c.5977+960_5977+961del - IntronicDeletion - 24/49 1
7-91692760-T-C c.5977+960T>C - IntronicSNV - 24/49 2
7-91693837-A-G c.5978-708A>G - IntronicSNV - 24/49 2
7-91694544-G-GA c.5979dup p.L1994Ifs*20 SpliceAcceptorInsertion 25/50 - 1
7-91694546-A-AG c.5979_5980insG p.L1994Vfs*20 SpliceAcceptorInsertion 25/50 - 1
7-91694562-GA-G c.6000del p.K2000Nfs*2 Frameshift 25/50 - 1
7-91694569-T-C c.6002T>C p.L2001S Missense 25/50 - 1
7-91694569-TAATG-T c.6005_6008del p.M2002Rfs*4 Frameshift 25/50 - 2
7-91694573-G-A c.6006G>A p.M2002I Missense 25/50 - 5
7-91694573-G-C c.6006G>C p.M2002I Missense 25/50 - 5
7-91694573-G-T c.6006G>T p.M2002I Missense 25/50 - 5
7-91694575-A-G c.6008A>G p.K2003R Missense 25/50 - 2
7-91694577-G-A c.6010G>A p.E2004K Missense 25/50 - 1
7-91694579-A-C c.6012A>C p.E2004D Missense 25/50 - 1
7-91694579-A-G c.6012A>G p.E2004= Synonymous 25/50 - 1
7-91694579-A-T c.6012A>T p.E2004D Missense 25/50 - 1
7-91694577-GA-G c.6015del p.K2005Nfs*2 Frameshift 25/50 - 1
7-91694583-CT-TA c.6016_6017delinsTA p.L2006* Nonsense 25/50 - 1
7-91694585-A-G c.6018A>G p.L2006= Synonymous 25/50 - 1
7-91694596-G-A c.6029G>A p.C2010Y Missense 25/50 - 1
7-91694598-C-A c.6031C>A p.Q2011K Missense 25/50 - 1
7-91694598-TCAA-T c.6031_6033del p.Q2011del InFrameDeletion 25/50 - 1
7-91694601-G-A c.6034G>A p.A2012T Missense 25/50 - 1
7-91694602-C-G c.6035C>G p.A2012G Missense 25/50 - 1
7-91694604-G-A c.6037G>A p.E2013K Missense 25/50 - 11
7-91694607-AAAGT-A c.6042_6045del p.K2014Nfs*9 Frameshift 25/50 - 1
7-91694613-C-T c.6046C>T p.R2016C Missense 25/50 - 3
7-91694623-T-C c.6056T>C p.L2019P Missense 25/50 - 1
7-91694625-C-T c.6058C>T p.Q2020* Nonsense 25/50 - 1
7-91694626-A-C c.6059A>C p.Q2020P Missense 25/50 - 1
7-91694625-CA-C c.6063del p.K2021Nfs*3 Frameshift 25/50 - 1
7-91694632-A-G c.6065A>G p.Q2022R Missense 25/50 - 3
7-91694634-G-A c.6067G>A p.V2023M Missense 25/50 - 2
7-91694640-G-A c.6073G>A p.A2025T Missense 25/50 - 2
7-91694641-C-T c.6074C>T p.A2025V Missense 25/50 - 3
7-91694643-CTA-ATG c.6076_6078delinsATG p.L2026M Missense 25/50 - 1
7-91694646-G-A c.6079G>A p.E2027K Missense 25/50 - 1
7-91694651-A-AT c.6084_6085insT p.D2029* Nonsense 25/50 - 1
7-91694652-G-A c.6085G>A p.D2029N Missense 25/50 - 1
7-91694662-A-C c.6095A>C p.E2032A Missense 25/50 - 1
7-91694667-G-A c.6100G>A p.V2034I Missense 25/50 - 1
7-91694679-A-G c.6112A>G p.I2038V Missense 25/50 - 2
7-91694688-G-A c.6121G>A p.E2041K Missense 25/50 - 1
7-91694694-G-C c.6127G>C p.E2043Q Missense 25/50 - 2
7-91694696-A-G c.6129A>G p.E2043= Synonymous 25/50 - 1
7-91694697-A-C c.6130A>C p.K2044Q Missense 25/50 - 2
7-91694694-G-GA c.6134dup p.N2045Kfs*3 Frameshift 25/50 - 1
7-91694701-A-G c.6134A>G p.N2045S Missense 25/50 - 6
7-91694702-T-C c.6135T>C p.N2045= Synonymous 25/50 - 2
7-91694718-TT-CC c.6151_6152delinsCC p.L2051P Missense 25/50 - 1
7-91694719-T-C c.6152T>C p.L2051S Missense 25/50 - 1
7-91694721-AG-CA c.6154_6155delinsCA p.R2052Q Missense 25/50 - 1
7-91694727-C-G c.6160C>G p.Q2054E Missense 25/50 - 2
7-91694733-C-T c.6166C>T p.Q2056* Nonsense 25/50 - 1
7-91694736-G-C c.6169G>C p.A2057P Missense 25/50 - 1
7-91694737-C-T c.6170C>T p.A2057V Missense 25/50 - 2
7-91694743-A-G c.6176A>G p.E2059G Missense 25/50 - 11
7-91694746-A-G c.6179A>G p.K2060R Missense 25/50 - 2
7-91694747-G-T c.6180G>T p.K2060N Missense 25/50 - 1
7-91694754-G-C c.6187G>C p.E2063Q Missense 25/50 - 1
7-91694755-A-C c.6188A>C p.E2063A Missense 25/50 - 1
7-91694761-T-C c.6194T>C p.M2065T Missense 25/50 - 2
7-91694762-G-A c.6195G>A p.M2065I Missense 25/50 - 3
7-91694762-G-C c.6195G>C p.M2065I Missense 25/50 - 2
7-91694762-G-T c.6195G>T p.M2065I Missense 25/50 - 2
7-91694763-A-C c.6196A>C p.R2066= Synonymous 25/50 - 1
7-91694765-A-G c.6198A>G p.R2066= Synonymous 25/50 - 1
7-91694777-T-A c.6210T>A p.D2070E Missense 25/50 - 1
7-91694777-T-G c.6210T>G p.D2070E Missense 25/50 - 1
7-91694778-G-A c.6210+1G>A - IntronicSNV - 25/49 1
7-91694841-C-T c.6210+64C>T - IntronicSNV - 25/49 1
7-91694895-A-C c.6210+118A>C - IntronicSNV - 25/49 1
7-91695741-G-A c.6211G>A p.E2071K Missense 26/50 - 2
7-91695742-A-G c.6212A>G p.E2071G Missense 26/50 - 1
7-91695744-C-A c.6214C>A p.Q2072K Missense 26/50 - 2
7-91695744-C-G c.6214C>G p.Q2072E Missense 26/50 - 1
7-91695748-C-G c.6218C>G p.A2073G Missense 26/50 - 2
7-91695748-C-T c.6218C>T p.A2073V Missense 26/50 - 2
7-91695751-T-C c.6221T>C p.I2074T Missense 26/50 - 1
7-91695755-C-CA c.6226dup p.R2076Kfs*4 Frameshift 26/50 - 1
7-91695757-G-A c.6227G>A p.R2076K Missense 26/50 - 1
7-91695761-A-G c.6231A>G p.E2077= Synonymous 26/50 - 1
7-91695764-T-A c.6234T>A p.H2078Q Missense 26/50 - 1
7-91695764-T-C c.6234T>C p.H2078= Synonymous 26/50 - 1
7-91695764-T-G c.6234T>G p.H2078Q Missense 26/50 - 1
7-91695767-G-C c.6237G>C p.E2079D Missense 26/50 - 1
7-91695771-G-A c.6241G>A p.D2081N Missense 26/50 - 1
7-91695771-G-C c.6241G>C p.D2081H Missense 26/50 - 1
7-91695779-C-A c.6249C>A p.F2083L Missense 26/50 - 1
7-91695779-C-T c.6249C>T p.F2083= Synonymous 26/50 - 6
7-91695780-C-A c.6250C>A p.Q2084K Missense 26/50 - 1
7-91695783-C-T c.6253C>T p.Q2085* Nonsense 26/50 - 1
7-91695786-G-A c.6256G>A p.E2086K Missense 26/50 - 2
7-91695793-A-G c.6263A>G p.Q2088R Missense 26/50 - 1
7-91695797-A-G c.6267A>G p.K2089= Synonymous 26/50 - 1
7-91695800-A-C c.6270A>C p.L2090= Synonymous 26/50 - 1
7-91695807-C-T c.6277C>T p.Q2093* Nonsense 26/50 - 3
7-91695810-C-T c.6280C>T p.L2094F Missense 26/50 - 1
7-91695822-C-T c.6292C>T p.P2098S Missense 26/50 - 3
7-91695825-C-T c.6295C>T p.R2099* Nonsense 26/50 - 1
7-91695826-G-A c.6296G>A p.R2099Q Missense 26/50 - 2
7-91695830-C-T c.6300C>T p.F2100= Synonymous 26/50 - 1
7-91695832-A-C c.6302A>C p.Q2101P Missense 26/50 - 1
7-91695830-CCAGCCTATCAGTGAA-C c.6303_6317del p.Q2101_E2105del InFrameDeletion 26/50 - 1
7-91695839-C-G c.6309C>G p.I2103M Missense 26/50 - 1
7-91695856-G-A c.6326G>A p.R2109K Missense 26/50 - 1
7-91695858-G-A c.6328G>A p.E2110K Missense 26/50 - 1
7-91695862-T-A c.6330+2T>A - IntronicSNV - 26/49 2
7-91699314-A-T c.6331-30A>T - IntronicSNV - 26/49 2
7-91699347-G-C c.6334G>C p.E2112Q Missense 27/50 - 1
7-91699356-G-T c.6343G>T p.A2115S Missense 27/50 - 1
7-91699357-C-T c.6344C>T p.A2115V Missense 27/50 - 1
7-91699360-A-G c.6347A>G p.N2116S Missense 27/50 - 2
7-91699362-C-G c.6349C>G p.H2117D Missense 27/50 - 1
7-91699371-G-A c.6358G>A p.E2120K Missense 27/50 - 2
7-91699374-A-C c.6361A>C p.K2121Q Missense 27/50 - 1
7-91699371-GA-G c.6364del p.T2122Qfs*25 Frameshift 27/50 - 1
7-91699371-G-GA c.6364dup p.T2122Nfs*6 Frameshift 27/50 - 3
7-91699378-C-CA c.6366dup p.D2123Rfs*5 Frameshift 27/50 - 1
7-91699381-A-G c.6368A>G p.D2123G Missense 27/50 - 4
7-91699401-C-A c.6388C>A p.L2130I Missense 27/50 - 1
7-91699401-C-T c.6388C>T p.L2130F Missense 27/50 - 1
7-91699406-T-TA c.6396dup p.E2133Rfs*12 Frameshift 27/50 - 1
7-91699409-A-C c.6396A>C p.K2132N Missense 27/50 - 2
7-91699409-A-T c.6396A>T p.K2132N Missense 27/50 - 2
7-91699424-G-C c.6411G>C p.R2137S Missense 27/50 - 1
7-91699424-G-T c.6411G>T p.R2137S Missense 27/50 - 1
7-91699425-G-T c.6412G>T p.D2138Y Missense 27/50 - 4
7-91699433-A-G c.6420A>G p.Q2140= Synonymous 27/50 - 1
7-91699434-G-C c.6421G>C p.E2141Q Missense 27/50 - 1
7-91699438-G-A c.6425G>A p.R2142K Missense 27/50 - 1
7-91699441-A-G c.6428A>G p.N2143S Missense 27/50 - 2
7-91699441-A-AT c.6429dup p.E2144* Nonsense 27/50 - 1
7-91699450-T-C c.6437T>C p.I2146T Missense 27/50 - 1
7-91699452-G-A c.6439G>A p.E2147K Missense 27/50 - 1
7-91699456-A-G c.6443A>G p.K2148R Missense 27/50 - 1
7-91699461-G-T c.6448G>T p.E2150* Nonsense 27/50 - 1
7-91699468-G-A c.6455G>A p.R2152K Missense 27/50 - 1
7-91699469-A-G c.6456A>G p.R2152= Synonymous 27/50 - 1
7-91699470-G-A c.6457G>A p.V2153I Missense 27/50 - 3
7-91699482-G-A c.6469G>A p.E2157K Missense 27/50 - 1
7-91699482-G-T c.6469G>T p.E2157* Nonsense 27/50 - 1
7-91699486-A-T c.6473A>T p.Q2158L Missense 27/50 - 1
7-91699489-C-T c.6476C>T p.A2159V Missense 27/50 - 1
7-91699490-G-A c.6477G>A p.A2159= Synonymous 27/50 - 1
7-91699490-G-C c.6477G>C p.A2159= Synonymous 27/50 - 1
7-91699490-G-T c.6477G>T p.A2159= Synonymous 27/50 - 1
7-91699491-C-T c.6478C>T p.L2160F Missense 27/50 - 1
7-91699515-C-T c.6502C>T p.Q2168* Nonsense 27/50 - 1
7-91699518-A-C c.6505A>C p.K2169Q Missense 27/50 - 1
7-91699518-A-T c.6505A>T p.K2169* Nonsense 27/50 - 1
7-91699715-GTTGTTTTGTT-G c.6507+233_6507+242del - IntronicDeletion - 27/49 1
7-91699779-G-A c.6507+259G>A - IntronicSNV - 27/49 1
7-91699779-G-T c.6507+259G>T - IntronicSNV - 27/49 1
7-91699980-C-T c.6508-239C>T - IntronicSNV - 27/49 1
7-91700219-G-A c.6508G>A p.V2170I Missense 28/50 - 3
7-91700219-G-T c.6508G>T p.V2170L Missense 28/50 - 1
7-91700221-A-G c.6510A>G p.V2170= Synonymous 28/50 - 1
7-91700222-G-A c.6511G>A p.E2171K Missense 28/50 - 1
7-91700229-G-A c.6518G>A p.R2173Q Missense 28/50 - 2
7-91700234-C-G c.6523C>G p.H2175D Missense 28/50 - 1
7-91700242-A-C c.6531A>C p.G2177= Synonymous 28/50 - 1
7-91700246-G-A c.6535G>A p.V2179I Missense 28/50 - 1
7-91700246-G-C c.6535G>C p.V2179L Missense 28/50 - 2
7-91700257-A-G c.6546A>G p.K2182= Synonymous 28/50 - 1
7-91700261-G-T c.6550G>T p.E2184* Nonsense 28/50 - 1
7-91700267-T-C c.6556T>C p.S2186P Missense 28/50 - 10
7-91700276-G-A c.6565G>A p.V2189I Missense 28/50 - 2
7-91700277-T-C c.6566T>C p.V2189A Missense 28/50 - 1
7-91700278-A-C c.6567A>C p.V2189= Synonymous 28/50 - 1
7-91700278-A-G c.6567A>G p.V2189= Synonymous 28/50 - 3
7-91700278-A-T c.6567A>T p.V2189= Synonymous 28/50 - 1
7-91700294-C-T c.6583C>T p.R2195* Nonsense 28/50 - 1
7-91700295-G-A c.6584G>A p.R2195Q Missense 28/50 - 1
7-91700297-G-C c.6586G>C p.D2196H Missense 28/50 - 1
7-91700303-A-T c.6592A>T p.I2198L Missense 28/50 - 1
7-91700306-G-A c.6595G>A p.D2199N Missense 28/50 - 1
7-91700307-A-G c.6596A>G p.D2199G Missense 28/50 - 1
7-91700309-AGA-TGT c.6598_6600delinsTGT p.R2200C Missense 28/50 - 1
7-91700310-G-T c.6599G>T p.R2200I Missense 28/50 - 1
7-91700314-G-C c.6603G>C p.K2201N Missense 28/50 - 2
7-91700314-G-T c.6603G>T p.K2201N Missense 28/50 - 2
7-91700318-A-G c.6607A>G p.K2203E Missense 28/50 - 1
7-91700323-G-C c.6612G>C p.E2204D Missense 28/50 - 1
7-91700323-G-T c.6612G>T p.E2204D Missense 28/50 - 2
7-91700324-G-A c.6612+1G>A - IntronicSNV - 28/49 1
7-91700339-T-C c.6612+16T>C - IntronicSNV - 28/49 1
7-91700353-G-A c.6612+30G>A - IntronicSNV - 28/49 1
7-91700353-G-T c.6612+30G>T - IntronicSNV - 28/49 1
7-91700361-A-T c.6612+38A>T - IntronicSNV - 28/49 1
7-91700879-A-G c.6612+556A>G - IntronicSNV - 28/49 2
7-91702819-CA-C c.6612+2506del - IntronicDeletion - 28/49 1
7-91705696-A-G c.6613-473A>G - IntronicSNV - 28/49 1
7-91705696-A-T c.6613-473A>T - IntronicSNV - 28/49 1
7-91706167-A-G c.6613-2A>G - IntronicSNV - 28/49 1
7-91706172-ACA-TGT c.6616_6618inv p.T2206C Missense 29/50 - 1
7-91706173-C-T c.6617C>T p.T2206I Missense 29/50 - 1
7-91706176-A-G c.6620A>G p.N2207S Missense 29/50 - 1
7-91706181-G-A c.6625G>A p.E2209K Missense 29/50 - 1
7-91706181-G-T c.6625G>T p.E2209* Nonsense 29/50 - 2
7-91706193-G-C c.6637G>C p.E2213Q Missense 29/50 - 5
7-91706203-G-A c.6647G>A p.R2216K Missense 29/50 - 1
7-91706208-G-A c.6652G>A p.E2218K Missense 29/50 - 1
7-91706211-C-G c.6655C>G p.L2219V Missense 29/50 - 1
7-91706211-C-T c.6655C>T p.L2219= Synonymous 29/50 - 1
7-91706213-G-A c.6657G>A p.L2219= Synonymous 29/50 - 1
7-91706213-G-C c.6657G>C p.L2219= Synonymous 29/50 - 1
7-91706213-G-T c.6657G>T p.L2219= Synonymous 29/50 - 1
7-91706219-TA-T c.6665del p.K2222Rfs*12 Frameshift 29/50 - 1
7-91706225-T-C c.6669T>C p.N2223= Synonymous 29/50 - 2
7-91706226-G-C c.6670G>C p.E2224Q Missense 29/50 - 1
7-91706229-G-C c.6673G>C p.E2225Q Missense 29/50 - 1
7-91706232-G-A c.6676G>A p.V2226I Missense 29/50 - 2
7-91706238-C-A c.6682C>A p.Q2228K Missense 29/50 - 1
7-91706239-A-T c.6683A>T p.Q2228L Missense 29/50 - 1
7-91706248-T-C c.6692T>C p.M2231T Missense 29/50 - 2
7-91706250-C-T c.6694C>T p.Q2232* Nonsense 29/50 - 1
7-91706263-A-T c.6707A>T p.Q2236L Missense 29/50 - 1
7-91706264-G-C c.6708G>C p.Q2236H Missense 29/50 - 1
7-91706264-G-T c.6708G>T p.Q2236H Missense 29/50 - 3
7-91706267-A-T c.6711A>T p.K2237N Missense 29/50 - 1
7-91706269-A-C c.6713A>C p.K2238T Missense 29/50 - 1
7-91706275-C-G c.6719C>G p.S2240C Missense 29/50 - 1
7-91706284-G-A c.6728G>A p.R2243H Missense 29/50 - 1
7-91706298-G-C c.6742G>C p.E2248Q Missense 29/50 - 1
7-91706306-A-C c.6750A>C p.E2250D Missense 29/50 - 1
7-91706306-A-T c.6750A>T p.E2250D Missense 29/50 - 1
7-91706314-T-G c.6758T>G p.L2253* Nonsense 29/50 - 1
7-91706315-A-C c.6759A>C p.L2253F Missense 29/50 - 1
7-91706316-T-G c.6760T>G p.F2254V Missense 29/50 - 1
7-91706321-G-A c.6765G>A p.K2255= Synonymous 29/50 - 1
7-91706324-TAATTAG-T c.6765+3_6765+8del - IntronicDeletion - 29/49 1
7-91706402-A-T c.6765+81A>T - IntronicSNV - 29/49 1
7-91706402-AT-A c.6765+84del - IntronicDeletion - 29/49 2
7-91706406-C-A c.6765+85C>A - IntronicSNV - 29/49 2
7-91706406-C-T c.6765+85C>T - IntronicSNV - 29/49 1
7-91706410-C-T c.6765+89C>T - IntronicSNV - 29/49 2
7-91706433-CTT-C c.6765+112_6765+113del - IntronicDeletion - 29/49 1
7-91707013-G-C c.6769G>C p.D2257H Missense 30/50 - 1
7-91707017-T-A c.6773T>A p.M2258K Missense 30/50 - 1
7-91707020-A-C c.6776A>C p.E2259A Missense 30/50 - 1
7-91707026-TG-AT c.6782_6783delinsAT p.L2261H Missense 30/50 - 1
7-91707037-A-G c.6793A>G p.I2265V Missense 30/50 - 1
7-91707043-G-A c.6799G>A p.E2267K Missense 30/50 - 1
7-91707050-A-G c.6806A>G p.D2269G Missense 30/50 - 1
7-91707050-A-T c.6806A>T p.D2269V Missense 30/50 - 1
7-91707052-G-A c.6808G>A p.A2270T Missense 30/50 - 1
7-91707079-C-A c.6835C>A p.L2279I Missense 30/50 - 1
7-91707085-G-T c.6841G>T p.G2281W Missense 30/50 - 1
7-91707088-A-G c.6844A>G p.K2282E Missense 30/50 - 1
7-91707094-G-T c.6850G>T p.A2284S Missense 30/50 - 1
7-91707095-C-T c.6851C>T p.A2284V Missense 30/50 - 1
7-91707097-C-G c.6853C>G p.Q2285E Missense 30/50 - 1
7-91707101-TA-T c.6859del p.I2287Yfs*6 Frameshift 30/50 - 1
7-91707115-G-A c.6871G>A p.E2291K Missense 30/50 - 1
7-91707115-G-C c.6871G>C p.E2291Q Missense 30/50 - 1
7-91707117-G-C c.6873G>C p.E2291D Missense 30/50 - 1
7-91707122-A-G c.6878A>G p.E2293G Missense 30/50 - 1
7-91707125-T-C c.6881T>C p.I2294T Missense 30/50 - 1
7-91707126-T-A c.6882T>A p.I2294= Synonymous 30/50 - 1
7-91707130-C-T c.6886C>T p.Q2296* Nonsense 30/50 - 1
7-91707134-TA-T c.6893del p.N2298Mfs*26 Frameshift 30/50 - 1
7-91707140-A-G c.6896A>G p.E2299G Missense 30/50 - 3
7-91707142-C-G c.6898C>G p.Q2300E Missense 30/50 - 1
7-91707148-A-G c.6904A>G p.T2302A Missense 30/50 - 3
7-91707149-C-T c.6905C>T p.T2302M Missense 30/50 - 4
7-91707150-G-A c.6906G>A p.T2302= Synonymous 30/50 - 3
7-91707150-G-C c.6906G>C p.T2302= Synonymous 30/50 - 1
7-91707150-G-T c.6906G>T p.T2302= Synonymous 30/50 - 2
7-91707162-G-T c.6918G>T p.Q2306H Missense 30/50 - 1
7-91707165-A-G c.6921A>G p.Q2307= Synonymous 30/50 - 3
7-91707175-A-G c.6931A>G p.T2311A Missense 30/50 - 1
7-91707181-G-A c.6937G>A p.D2313N Missense 30/50 - 3
7-91707181-G-C c.6937G>C p.D2313H Missense 30/50 - 3
7-91707182-A-G c.6938A>G p.D2313G Missense 30/50 - 1
7-91707197-C-T c.6945+8C>T - IntronicSNV - 30/49 12
7-91708401-A-AT c.6954_6955insT p.E2319* Nonsense 31/50 - 1
7-91708402-GA-G c.6962del p.N2321Mfs*3 Frameshift 31/50 - 1
7-91708417-A-G c.6970A>G p.I2324V Missense 31/50 - 1
7-91708420-A-C c.6973A>C p.R2325= Synonymous 31/50 - 1
7-91708421-G-A c.6974G>A p.R2325K Missense 31/50 - 1
7-91708426-C-A c.6979C>A p.L2327I Missense 31/50 - 3
7-91708443-A-G c.6996A>G p.E2332= Synonymous 31/50 - 1
7-91708452-G-A c.7005G>A p.M2335I Missense 31/50 - 1
7-91708453-A-G c.7006A>G p.S2336G Missense 31/50 - 4
7-91708456-G-A c.7009G>A p.D2337N Missense 31/50 - 1
7-91708456-G-C c.7009G>C p.D2337H Missense 31/50 - 1
7-91708459-C-G c.7012C>G p.Q2338E Missense 31/50 - 1
7-91708459-C-T c.7012C>T p.Q2338* Nonsense 31/50 - 1
7-91708472-A-G c.7025A>G p.K2342R Missense 31/50 - 1
7-91708474-AGA-TGG c.7027_7029delinsTGG p.R2343W Missense 31/50 - 2
7-91708475-G-GA c.7031dup p.N2344Kfs*2 Frameshift 31/50 - 1
7-91708481-G-A c.7034G>A p.R2345K Missense 31/50 - 1
7-91708483-G-A c.7036G>A p.E2346K Missense 31/50 - 1
7-91708495-G-C c.7048G>C p.E2350Q Missense 31/50 - 1
7-91708503-C-A c.7056C>A p.L2352= Synonymous 31/50 - 1
7-91708503-C-G c.7056C>G p.L2352= Synonymous 31/50 - 1
7-91708503-C-T c.7056C>T p.L2352= Synonymous 31/50 - 1
7-91708507-G-A c.7060G>A p.E2354K Missense 31/50 - 1
7-91708507-G-C c.7060G>C p.E2354Q Missense 31/50 - 1
7-91708516-G-C c.7069G>C p.E2357Q Missense 31/50 - 1
7-91708521-A-C c.7074A>C p.K2358N Missense 31/50 - 1
7-91708528-C-A c.7081C>A p.Q2361K Missense 31/50 - 2
7-91708528-C-T c.7081C>T p.Q2361* Nonsense 31/50 - 1
7-91708531-GA-G c.7086del p.E2362Dfs*11 Frameshift 31/50 - 2
7-91708543-A-G c.7096A>G p.I2366V Missense 31/50 - 1
7-91708547-G-A c.7100G>A p.G2367E Missense 31/50 - 2
7-91708559-CA-TT c.7112_7113delinsTT p.S2371F Missense 31/50 - 2
7-91708559-C-T c.7112C>T p.S2371L Missense 31/50 - 1
7-91708572-T-A c.7125T>A p.H2375Q Missense 31/50 - 2
7-91708572-T-G c.7125T>G p.H2375Q Missense 31/50 - 1
7-91708575-C-T c.7128C>T p.S2376= Synonymous 31/50 - 1
7-91708576-C-A c.7129C>A p.L2377I Missense 31/50 - 1
7-91708587-A-C c.7140A>C p.E2380D Missense 31/50 - 1
7-91708590-A-C c.7143A>C p.A2381= Synonymous 31/50 - 1
7-91708590-A-G c.7143A>G p.A2381= Synonymous 31/50 - 1
7-91708590-A-T c.7143A>T p.A2381= Synonymous 31/50 - 1
7-91708591-G-A c.7144G>A p.D2382N Missense 31/50 - 1
7-91708592-A-T c.7145A>T p.D2382V Missense 31/50 - 1
7-91708593-C-T c.7146C>T p.D2382= Synonymous 31/50 - 1
7-91708594-A-G c.7147A>G p.S2383G Missense 31/50 - 1
7-91708595-G-A c.7148G>A p.S2383N Missense 31/50 - 2
7-91708594-A-C c.7147A>C p.S2383R Missense 31/50 - 1
7-91708596-T-A c.7149T>A p.S2383R Missense 31/50 - 1
7-91708596-T-G c.7149T>G p.S2383R Missense 31/50 - 1
7-91708597-T-G c.7150T>G p.L2384V Missense 31/50 - 1
7-91708599-A-C c.7152A>C p.L2384F Missense 31/50 - 1
7-91708599-A-T c.7152A>T p.L2384F Missense 31/50 - 1
7-91708606-C-G c.7159C>G p.Q2387E Missense 31/50 - 1
7-91708615-G-A c.7168G>A p.V2390M Missense 31/50 - 1
7-91708622-T-G c.7175T>G p.I2392R Missense 31/50 - 1
7-91708631-A-G c.7184A>G p.K2395R Missense 31/50 - 1
7-91708636-G-A c.7189G>A p.A2397T Missense 31/50 - 1
7-91708637-C-G c.7190C>G p.A2397G Missense 31/50 - 2
7-91708637-C-T c.7190C>T p.A2397V Missense 31/50 - 3
7-91708639-T-G c.7192T>G p.L2398V Missense 31/50 - 1
7-91708642-G-T c.7195G>T p.E2399* Nonsense 31/50 - 1
7-91708647-G-A c.7200G>A p.Q2400= Synonymous 31/50 - 2
7-91708654-G-A c.7207G>A p.E2403K Missense 31/50 - 1
7-91708654-G-C c.7207G>C p.E2403Q Missense 31/50 - 1
7-91708655-A-G c.7208A>G p.E2403G Missense 31/50 - 3
7-91708657-A-T c.7210A>T p.T2404S Missense 31/50 - 1
7-91708659-C-T c.7212C>T p.T2404= Synonymous 31/50 - 1
7-91708660-G-A c.7213G>A p.A2405T Missense 31/50 - 1
7-91708660-G-C c.7213G>C p.A2405P Missense 31/50 - 1
7-91708662-CT-C c.7215del p.N2406Mfs*4 Frameshift 31/50 - 1
7-91708666-G-C c.7219G>C p.E2407Q Missense 31/50 - 1
7-91708668-A-T c.7221A>T p.E2407D Missense 31/50 - 1
7-91708673-T-C c.7226T>C p.M2409T Missense 31/50 - 1
7-91708674-G-A c.7227G>A p.M2409I Missense 31/50 - 1
7-91708675-A-G c.7228A>G p.T2410A Missense 31/50 - 1
7-91708675-AC-A c.7230del p.F2411Sfs*2 Frameshift 31/50 - 1
7-91708677-CT-C c.7232del p.F2411Sfs*2 Frameshift 31/50 - 1
7-91708688-A-G c.7241A>G p.N2414S Missense 31/50 - 1
7-91708691-T-G c.7244T>G p.V2415G Missense 31/50 - 1
7-91708695-TAAAG-T c.7252_7255del p.E2418Pfs*5 Frameshift 31/50 - 1
7-91708706-A-G c.7259A>G p.N2420S Missense 31/50 - 4
7-91708708-T-C c.7261T>C p.F2421L Missense 31/50 - 2
7-91708710-T-A c.7263T>A p.F2421L Missense 31/50 - 2
7-91708710-T-G c.7263T>G p.F2421L Missense 31/50 - 2
7-91708722-G-A c.7275G>A p.Q2425= Synonymous 31/50 - 2
7-91708728-A-C c.7281A>C p.T2427= Synonymous 31/50 - 1
7-91708728-A-G c.7281A>G p.T2427= Synonymous 31/50 - 1
7-91708728-A-T c.7281A>T p.T2427= Synonymous 31/50 - 1
7-91708732-G-A c.7285G>A p.E2429K Missense 31/50 - 1
7-91708742-G-T c.7295G>T p.S2432I Missense 31/50 - 1
7-91708749-G-C c.7302G>C p.K2434N Missense 31/50 - 1
7-91708751-G-A c.7304G>A p.R2435K Missense 31/50 - 1
7-91708757-G-A c.7310G>A p.R2437H Missense 31/50 - 1
7-91708761-AAAGT-A c.7314_7317del p.S2439Wfs*16 Frameshift 31/50 - 1
7-91708761-A-C c.7314A>C p.E2438D Missense 31/50 - 1
7-91708761-A-T c.7314A>T p.E2438D Missense 31/50 - 2
7-91708763-G-T c.7316G>T p.S2439I Missense 31/50 - 1
7-91708768-G-A c.7321G>A p.E2441K Missense 31/50 - 1
7-91708772-A-T c.7325A>T p.K2442M Missense 31/50 - 1
7-91708777-C-G c.7330C>G p.Q2444E Missense 31/50 - 1
7-91708787-C-A c.7340C>A p.P2447Q Missense 31/50 - 3
7-91708789-G-C c.7342G>C p.E2448Q Missense 31/50 - 1
7-91708791-G-T c.7344G>T p.E2448D Missense 31/50 - 1
7-91708796-G-C c.7349G>C p.S2450T Missense 31/50 - 1
7-91708810-A-G c.7363A>G p.I2455V Missense 31/50 - 1
7-91708816-C-A c.7369C>A p.H2457N Missense 31/50 - 3
7-91708819-C-T c.7372C>T p.L2458= Synonymous 31/50 - 1
7-91708821-G-A c.7374G>A p.L2458= Synonymous 31/50 - 1
7-91708821-G-C c.7374G>C p.L2458= Synonymous 31/50 - 1
7-91708821-G-T c.7374G>T p.L2458= Synonymous 31/50 - 1
7-91708823-G-A c.7376G>A p.S2459N Missense 31/50 - 1
7-91708827-A-T c.7380A>T p.K2460N Missense 31/50 - 1
7-91708830-C-T c.7383C>T p.D2461= Synonymous 31/50 - 1
7-91708834-C-T c.7387C>T p.P2463S Missense 31/50 - 1
7-91708846-G-C c.7399G>C p.V2467L Missense 31/50 - 1
7-91708846-G-T c.7399G>T p.V2467L Missense 31/50 - 2
7-91708846-GTA-ATG c.7399_7401delinsATG p.V2467M Missense 31/50 - 1
7-91708848-A-T c.7401A>T p.V2467= Synonymous 31/50 - 1
7-91708850-T-C c.7403T>C p.V2468A Missense 31/50 - 1
7-91708853-T-G c.7406T>G p.L2469R Missense 31/50 - 2
7-91708862-A-G c.7415A>G p.D2472G Missense 31/50 - 1
7-91708865-C-T c.7418C>T p.A2473V Missense 31/50 - 1
7-91708867-C-A c.7420C>A p.L2474I Missense 31/50 - 1
7-91708870-A-T c.7423A>T p.K2475* Nonsense 31/50 - 1
7-91708879-G-A c.7432G>A p.E2478K Missense 31/50 - 1
7-91708885-C-T c.7438C>T p.Q2480* Nonsense 31/50 - 7
7-91708886-A-G c.7439A>G p.Q2480R Missense 31/50 - 1
7-91708892-A-T c.7445A>T p.Y2482F Missense 31/50 - 1
7-91708894-T-A c.7447T>A p.F2483I Missense 31/50 - 2
7-91708898-A-G c.7451A>G p.K2484R Missense 31/50 - 21
7-91708900-T-C c.7453T>C p.S2485P Missense 31/50 - 1
7-91708901-C-A c.7454C>A p.S2485Y Missense 31/50 - 1
7-91708910-A-T c.7463A>T p.E2488V Missense 31/50 - 3
7-91708912-A-T c.7465A>T p.N2489Y Missense 31/50 - 3
7-91708916-G-A c.7469G>A p.G2490D Missense 31/50 - 1
7-91708917-C-G c.7470C>G p.G2490= Synonymous 31/50 - 1
7-91708917-C-T c.7470C>T p.G2490= Synonymous 31/50 - 1
7-91708920-A-C c.7473A>C p.K2491N Missense 31/50 - 1
7-91708920-A-T c.7473A>T p.K2491N Missense 31/50 - 1
7-91708921-G-A c.7474G>A p.G2492S Missense 31/50 - 1
7-91708921-G-T c.7474G>T p.G2492C Missense 31/50 - 1
7-91708929-A-G c.7482A>G p.I2494M Missense 31/50 - 1
7-91708933-A-T c.7486A>T p.N2496Y Missense 31/50 - 1
7-91708934-A-G c.7487A>G p.N2496S Missense 31/50 - 1
7-91708935-T-G c.7488T>G p.N2496K Missense 31/50 - 3
7-91708953-A-T c.7506A>T p.L2502= Synonymous 31/50 - 1
7-91708963-AG-TT c.7516_7517delinsTT p.S2506F Missense 31/50 - 1
7-91708964-G-C c.7517G>C p.S2506T Missense 31/50 - 1
7-91708973-G-A c.7526G>A p.S2509N Missense 31/50 - 1
7-91708972-A-C c.7525A>C p.S2509R Missense 31/50 - 2
7-91708974-T-A c.7527T>A p.S2509R Missense 31/50 - 2
7-91708974-T-G c.7527T>G p.S2509R Missense 31/50 - 2
7-91708976-C-T c.7529C>T p.A2510V Missense 31/50 - 1
7-91708980-G-C c.7533G>C p.K2511N Missense 31/50 - 1
7-91708980-G-T c.7533G>T p.K2511N Missense 31/50 - 1
7-91708984-T-G c.7537T>G p.L2513V Missense 31/50 - 1
7-91708990-C-A c.7543C>A p.L2515I Missense 31/50 - 1
7-91708996-C-T c.7549C>T p.Q2517* Nonsense 31/50 - 1
7-91709047-G-A c.7600G>A p.E2534K Missense 31/50 - 1
7-91709063-A-G c.7616A>G p.K2539R Missense 31/50 - 1
7-91709064-G-C c.7617G>C p.K2539N Missense 31/50 - 1
7-91709065-A-G c.7618A>G p.I2540V Missense 31/50 - 1
7-91709075-T-C c.7628T>C p.L2543P Missense 31/50 - 2
7-91709078-A-G c.7631A>G p.Q2544R Missense 31/50 - 1
7-91709085-A-C c.7638A>C p.I2546= Synonymous 31/50 - 1
7-91709085-A-G c.7638A>G p.I2546M Missense 31/50 - 17
7-91709085-A-T c.7638A>T p.I2546= Synonymous 31/50 - 1
7-91709089-G-A c.7642G>A p.E2548K Missense 31/50 - 2
7-91709089-G-T c.7642G>T p.E2548* Nonsense 31/50 - 1
7-91709089-GAAGA-G c.7645_7648del p.E2549Kfs*40 Frameshift 31/50 - 1
7-91709101-G-T c.7654G>T p.A2552S Missense 31/50 - 1
7-91709104-TG-T c.7657del p.A2553Lfs*37 Frameshift 31/50 - 1
7-91709105-C-G c.7658C>G p.A2553G Missense 31/50 - 1
7-91709107-G-A c.7660G>A p.A2554T Missense 31/50 - 1
7-91709108-C-G c.7661C>G p.A2554G Missense 31/50 - 1
7-91709110-C-A c.7663C>A p.L2555I Missense 31/50 - 1
7-91709117-G-T c.7670G>T p.S2557I Missense 31/50 - 1
7-91709130-T-A c.7683T>A p.L2561= Synonymous 31/50 - 1
7-91709130-T-C c.7683T>C p.L2561= Synonymous 31/50 - 1
7-91709130-T-G c.7683T>G p.L2561= Synonymous 31/50 - 1
7-91709140-C-T c.7693C>T p.Q2565* Nonsense 31/50 - 1
7-91709147-A-T c.7700A>T p.Y2567F Missense 31/50 - 1
7-91709149-G-A c.7702G>A p.A2568T Missense 31/50 - 1
7-91709152-A-G c.7705A>G p.K2569E Missense 31/50 - 1
7-91709163-A-C c.7716A>C p.Q2572H Missense 31/50 - 1
7-91709163-A-T c.7716A>T p.Q2572H Missense 31/50 - 1
7-91709167-A-T c.7720A>T p.N2574Y Missense 31/50 - 1
7-91709170-C-T c.7723C>T p.Q2575* Nonsense 31/50 - 1
7-91709172-A-C c.7725A>C p.Q2575H Missense 31/50 - 2
7-91709174-C-T c.7727C>T p.T2576I Missense 31/50 - 1
7-91709179-T-C c.7732T>C p.S2578P Missense 31/50 - 2
7-91709188-C-T c.7741C>T p.P2581S Missense 31/50 - 2
7-91709195-G-C c.7748G>C p.R2583T Missense 31/50 - 4
7-91709206-C-T c.7759C>T p.Q2587* Nonsense 31/50 - 2
7-91709207-A-C c.7760A>C p.Q2587P Missense 31/50 - 1
7-91709214-A-C c.7767A>C p.L2589F Missense 31/50 - 1
7-91709214-A-T c.7767A>T p.L2589F Missense 31/50 - 1
7-91709219-A-T c.7772A>T p.Q2591L Missense 31/50 - 1
7-91709220-A-C c.7773A>C p.Q2591H Missense 31/50 - 3
7-91709220-A-T c.7773A>T p.Q2591H Missense 31/50 - 2
7-91709222-T-A c.7775T>A p.L2592Q Missense 31/50 - 1
7-91709225-G-A c.7778G>A p.R2593K Missense 31/50 - 2
7-91709233-G-A c.7786G>A p.E2596K Missense 31/50 - 3
7-91709236-T-C c.7789T>C p.L2597= Synonymous 31/50 - 1
7-91709238-G-C c.7791G>C p.L2597F Missense 31/50 - 1
7-91709238-G-T c.7791G>T p.L2597F Missense 31/50 - 1
7-91709239-G-T c.7792G>T p.G2598W Missense 31/50 - 1
7-91709245-G-T c.7798G>T p.D2600Y Missense 31/50 - 1
7-91709254-G-A c.7807G>A p.A2603T Missense 31/50 - 2
7-91709254-G-T c.7807G>T p.A2603S Missense 31/50 - 1
7-91709261-C-T c.7814C>T p.T2605I Missense 31/50 - 1
7-91709262-C-T c.7815C>T p.T2605= Synonymous 31/50 - 2
7-91709265-G-C c.7818G>C p.L2606F Missense 31/50 - 2
7-91709265-G-T c.7818G>T p.L2606F Missense 31/50 - 1
7-91709266-A-G c.7819A>G p.R2607G Missense 31/50 - 3
7-91709273-C-T c.7826C>T p.S2609L Missense 31/50 - 9
7-91709279-T-A c.7832T>A p.L2611* Nonsense 31/50 - 1
7-91709279-T-G c.7832T>G p.L2611* Nonsense 31/50 - 1
7-91709281-G-A c.7834G>A p.E2612K Missense 31/50 - 1
7-91709285-G-A c.7838G>A p.S2613N Missense 31/50 - 3
7-91709290-G-GTTGAAATTCTGAATAT c.7846_7847insAAATTCTGAATATTTG p.V2616Efs*7 Frameshift 31/50 - 1
7-91709296-G-A c.7849G>A p.E2617K Missense 31/50 - 1
7-91709305-A-T c.7858A>T p.T2620S Missense 31/50 - 2
7-91709306-C-G c.7859C>G p.T2620S Missense 31/50 - 1
7-91709306-C-T c.7859C>T p.T2620I Missense 31/50 - 2
7-91709308-AG-CT c.7861_7862inv p.S2621L Missense 31/50 - 1
7-91709308-AGT-TGA c.7861_7863delinsTGA p.S2621* Nonsense 31/50 - 1
7-91709309-G-A c.7862G>A p.S2621N Missense 31/50 - 1
7-91709313-G-C c.7866G>C p.L2622F Missense 31/50 - 1
7-91709313-G-T c.7866G>T p.L2622F Missense 31/50 - 1
7-91709316-T-TATC c.7869_7870insATC p.I2623dup InFrameInsertion 31/50 - 1
7-91709317-T-TAAATTCTGAATATTTG c.7870_7871insAAATTCTGAATATTTG p.L2624* Nonsense 31/50 - 1
7-91709318-TTAG-T c.7871_7873del p.L2624_E2625delins* MultiAAMissense 31/50 - 1
7-91709322-A-G c.7875A>G p.E2625= Synonymous 31/50 - 1
7-91709333-T-C c.7886T>C p.V2629A Missense 31/50 - 3
7-91709335-G-T c.7888G>T p.E2630* Nonsense 31/50 - 1
7-91709344-GA-G c.7904del p.N2635Mfs*3 Frameshift 31/50 - 1
7-91709344-G-GA c.7904dup p.N2635Kfs*20 Frameshift 31/50 - 1
7-91709353-G-C c.7906G>C p.V2636L Missense 31/50 - 1
7-91709364-A-G c.7917A>G p.K2639= Synonymous 31/50 - 1
7-91709382-A-T c.7935A>T p.E2645D Missense 31/50 - 1
7-91709392-C-T c.7945C>T p.L2649= Synonymous 31/50 - 1
7-91709394-A-C c.7947A>C p.L2649= Synonymous 31/50 - 1
7-91709394-A-G c.7947A>G p.L2649= Synonymous 31/50 - 1
7-91709394-A-T c.7947A>T p.L2649= Synonymous 31/50 - 1
7-91709402-G-T c.7955G>T p.G2652V Missense 31/50 - 1
7-91709403-C-A c.7956C>A p.G2652= Synonymous 31/50 - 1
7-91709415-A-C c.7968A>C p.K2656N Missense 31/50 - 1
7-91709415-A-T c.7968A>T p.K2656N Missense 31/50 - 1
7-91709416-CAG-C c.7977_7978del p.K2660Rfs*10 Frameshift 31/50 - 1
7-91709430-A-G c.7983A>G p.E2661= Synonymous 31/50 - 1
7-91709438-G-A c.7991G>A p.R2664K Missense 31/50 - 1
7-91709443-C-A c.7996C>A p.P2666T Missense 31/50 - 2
7-91709449-G-A c.8002G>A p.D2668N Missense 31/50 - 1
7-91709450-A-G c.8003A>G p.D2668G Missense 31/50 - 1
7-91709455-G-C c.8008G>C p.E2670Q Missense 31/50 - 1
7-91709460-T-A c.8013T>A p.V2671= Synonymous 31/50 - 1
7-91709460-T-C c.8013T>C p.V2671= Synonymous 31/50 - 1
7-91709460-T-G c.8013T>G p.V2671= Synonymous 31/50 - 1
7-91709463-C-A c.8016C>A p.L2672= Synonymous 31/50 - 2
7-91709463-C-G c.8016C>G p.L2672= Synonymous 31/50 - 2
7-91709463-C-T c.8016C>T p.L2672= Synonymous 31/50 - 2
7-91709466-G-C c.8019G>C p.K2673N Missense 31/50 - 2
7-91709466-G-T c.8019G>T p.K2673N Missense 31/50 - 1
7-91709679-G-A c.8019+213G>A - IntronicSNV - 31/49 1
7-91711791-A-G c.8020-45A>G - IntronicSNV - 31/49 7
7-91711791-A-T c.8020-45A>T - IntronicSNV - 31/49 7
7-91711839-A-G c.8023A>G p.T2675A Missense 32/50 - 1
7-91711845-G-T c.8029G>T p.E2677* Nonsense 32/50 - 1
7-91711848-C-T c.8032C>T p.L2678= Synonymous 32/50 - 1
7-91711850-A-C c.8034A>C p.L2678= Synonymous 32/50 - 1
7-91711850-A-G c.8034A>G p.L2678= Synonymous 32/50 - 1
7-91711850-A-T c.8034A>T p.L2678= Synonymous 32/50 - 1
7-91711852-T-G c.8036T>G p.F2679C Missense 32/50 - 1
7-91711855-A-G c.8039A>G p.H2680R Missense 32/50 - 4
7-91711857-A-G c.8041A>G p.S2681G Missense 32/50 - 1
7-91711857-AG-CC c.8041_8042delinsCC p.S2681P Missense 32/50 - 2
7-91711865-A-C c.8049A>C p.E2683D Missense 32/50 - 1
7-91711865-A-T c.8049A>T p.E2683D Missense 32/50 - 1
7-91711866-G-T c.8050G>T p.E2684* Nonsense 32/50 - 2
7-91711874-A-AT c.8064dup p.N2689* Nonsense 32/50 - 1
7-91711884-G-A c.8068G>A p.E2690K Missense 32/50 - 1
7-91711893-G-A c.8077G>A p.A2693T Missense 32/50 - 1
7-91711894-C-T c.8078C>T p.A2693V Missense 32/50 - 2
7-91711905-G-A c.8089G>A p.E2697K Missense 32/50 - 1
7-91711905-G-C c.8089G>C p.E2697Q Missense 32/50 - 1
7-91711909-C-A c.8093C>A p.S2698* Nonsense 32/50 - 3
7-91711909-C-G c.8093C>G p.S2698* Nonsense 32/50 - 3
7-91711909-C-T c.8093C>T p.S2698L Missense 32/50 - 1
7-91711915-GC-G c.8099del p.A2700Vfs*22 Frameshift 32/50 - 3
7-91711918-C-A c.8102C>A p.T2701N Missense 32/50 - 1
7-91711924-C-T c.8108C>T p.A2703V Missense 32/50 - 1
7-91711932-G-A c.8116G>A p.A2706T Missense 32/50 - 1
7-91711935-CAGTTATAAAGAAAAGGCT-C c.8119_8136del p.S2707_A2712del InFrameDeletion 32/50 - 2
7-91711942-A-T c.8126A>T p.K2709I Missense 32/50 - 1
7-91711944-G-A c.8128G>A p.E2710K Missense 32/50 - 1
7-91711948-A-G c.8132A>G p.K2711R Missense 32/50 - 1
7-91711950-G-A c.8134G>A p.A2712T Missense 32/50 - 1
7-91711950-G-T c.8134G>T p.A2712S Missense 32/50 - 1
7-91711951-C-T c.8135C>T p.A2712V Missense 32/50 - 1
7-91711968-G-A c.8152G>A p.E2718K Missense 32/50 - 2
7-91711972-T-G c.8156T>G p.L2719R Missense 32/50 - 1
7-91712021-C-A c.8160+45C>A - IntronicSNV - 32/49 1
7-91712499-A-G c.8176A>G p.M2726V Missense 33/50 - 1
7-91712512-A-G c.8189A>G p.Q2730R Missense 33/50 - 7
7-91712513-G-A c.8190G>A p.Q2730= Synonymous 33/50 - 1
7-91712529-G-T c.8206G>T p.V2736F Missense 33/50 - 2
7-91712530-T-G c.8207T>G p.V2736G Missense 33/50 - 1
7-91712531-T-A c.8208T>A p.V2736= Synonymous 33/50 - 1
7-91712531-T-C c.8208T>C p.V2736= Synonymous 33/50 - 1
7-91712531-T-G c.8208T>G p.V2736= Synonymous 33/50 - 1
7-91712538-C-T c.8215C>T p.H2739Y Missense 33/50 - 1
7-91712539-A-C c.8216A>C p.H2739P Missense 33/50 - 1
7-91712544-G-A c.8221G>A p.A2741T Missense 33/50 - 1
7-91712544-G-T c.8221G>T p.A2741S Missense 33/50 - 1
7-91712547-G-A c.8224G>A p.E2742K Missense 33/50 - 3
7-91712548-A-G c.8225A>G p.E2742G Missense 33/50 - 2
7-91712551-C-T c.8228C>T p.A2743V Missense 33/50 - 1
7-91712556-G-C c.8233G>C p.E2745Q Missense 33/50 - 1
7-91712562-T-C c.8239T>C p.L2747= Synonymous 33/50 - 1
7-91712564-G-A c.8241G>A p.L2747= Synonymous 33/50 - 1
7-91712564-G-C c.8241G>C p.L2747F Missense 33/50 - 1
7-91712564-G-T c.8241G>T p.L2747F Missense 33/50 - 2
7-91712566-C-T c.8243C>T p.S2748F Missense 33/50 - 4
7-91712571-T-A c.8248T>A p.L2750I Missense 33/50 - 1
7-91712572-T-C c.8249T>C p.L2750S Missense 33/50 - 1
7-91712579-A-G c.8256A>G p.K2752= Synonymous 33/50 - 1
7-91712582-A-C c.8259A>C p.E2753D Missense 33/50 - 1
7-91712582-A-T c.8259A>T p.E2753D Missense 33/50 - 1
7-91712583-G-A c.8260G>A p.D2754N Missense 33/50 - 2
7-91712586-G-A c.8263G>A p.E2755K Missense 33/50 - 1
7-91712592-G-C c.8269G>C p.E2757Q Missense 33/50 - 1
7-91712592-G-T c.8269G>T p.E2757* Nonsense 33/50 - 1
7-91712601-G-A c.8278G>A p.E2760K Missense 33/50 - 1
7-91712602-A-G c.8279A>G p.E2760G Missense 33/50 - 1
7-91712608-A-T c.8285A>T p.K2762I Missense 33/50 - 1
7-91712609-A-C c.8286A>C p.K2762N Missense 33/50 - 6
7-91712609-A-T c.8286A>T p.K2762N Missense 33/50 - 1
7-91712614-C-T c.8291C>T p.A2764V Missense 33/50 - 1
7-91712619-A-G c.8296A>G p.M2766V Missense 33/50 - 1
7-91712626-A-G c.8303A>G p.E2768G Missense 33/50 - 1
7-91712628-C-T c.8305C>T p.P2769S Missense 33/50 - 3
7-91712644-T-G c.8321T>G p.L2774R Missense 33/50 - 1
7-91712658-G-A c.8335G>A p.A2779T Missense 33/50 - 1
7-91712663-C-T c.8340C>T p.S2780= Synonymous 33/50 - 1
7-91712664-C-T c.8341C>T p.Q2781* Nonsense 33/50 - 2
7-91712668-C-T c.8345C>T p.T2782I Missense 33/50 - 1
7-91712670-G-C c.8347G>C p.D2783H Missense 33/50 - 1
7-91712672-T-A c.8349T>A p.D2783E Missense 33/50 - 1
7-91712672-T-G c.8349T>G p.D2783E Missense 33/50 - 1
7-91712673-G-A c.8350G>A p.G2784R Missense 33/50 - 1
7-91712673-G-C c.8350G>C p.G2784R Missense 33/50 - 1
7-91712673-G-T c.8350G>T p.G2784W Missense 33/50 - 1
7-91712680-T-G c.8357T>G p.L2786R Missense 33/50 - 2
7-91712684-G-C c.8361G>C p.K2787N Missense 33/50 - 1
7-91712684-G-T c.8361G>T p.K2787N Missense 33/50 - 2
7-91712687-C-T c.8364C>T p.I2788= Synonymous 33/50 - 2
7-91712694-AG-CC c.8371_8372delinsCC p.S2791P Missense 33/50 - 2
7-91712698-A-G c.8375A>G p.N2792S Missense 33/50 - 50
7-91712700-C-T c.8377C>T p.Q2793* Nonsense 33/50 - 1
7-91712702-G-A c.8379G>A p.Q2793= Synonymous 33/50 - 1
7-91712706-C-T c.8383C>T p.P2795S Missense 33/50 - 1
7-91712707-C-T c.8384C>T p.P2795L Missense 33/50 - 4
7-91712715-C-A c.8392C>A p.L2798I Missense 33/50 - 3
7-91712715-C-G c.8392C>G p.L2798V Missense 33/50 - 9
7-91712716-T-G c.8393T>G p.L2798R Missense 33/50 - 1
7-91712718-G-A c.8395G>A p.V2799I Missense 33/50 - 3
7-91712721-A-G c.8398A>G p.K2800E Missense 33/50 - 1
7-91712728-C-T c.8405C>T p.A2802V Missense 33/50 - 1
7-91712731-G-T c.8408G>T p.G2803V Missense 33/50 - 2
7-91712734-T-C c.8411T>C p.I2804T Missense 33/50 - 1
7-91712739-A-T c.8416A>T p.I2806F Missense 33/50 - 1
7-91712746-T-C c.8423T>C p.L2808S Missense 33/50 - 1
7-91712748-C-A c.8425C>A p.Q2809K Missense 33/50 - 1
7-91712748-C-G c.8425C>G p.Q2809E Missense 33/50 - 2
7-91712761-C-T c.8438C>T p.S2813F Missense 33/50 - 3
7-91712760-TC-T c.8439del p.S2814Qfs*7 Frameshift 33/50 - 1
7-91712775-A-C c.8452A>C p.T2818P Missense 33/50 - 1
7-91712782-T-C c.8459T>C p.I2820T Missense 33/50 - 1
7-91712786-C-G c.8463C>G p.I2821M Missense 33/50 - 1
7-91712791-A-G c.8468A>G p.Q2823R Missense 33/50 - 3
7-91712796-A-C c.8473A>C p.T2825P Missense 33/50 - 1
7-91712797-C-T c.8474C>T p.T2825I Missense 33/50 - 1
7-91712797-C-CTTATATCTATCTTTA c.8475_8476insTATATCTATCTTTAT p.T2825_E2826insYIYLY InFrameInsertion 33/50 - 2
7-91712804-A-C c.8481A>C p.K2827N Missense 33/50 - 1
7-91712806-T-A c.8483T>A p.I2828N Missense 33/50 - 1
7-91712806-T-G c.8483T>G p.I2828S Missense 33/50 - 1
7-91712808-G-A c.8485G>A p.E2829K Missense 33/50 - 4
7-91712808-G-C c.8485G>C p.E2829Q Missense 33/50 - 3
7-91712808-G-T c.8485G>T p.E2829* Nonsense 33/50 - 1
7-91712810-G-C c.8487G>C p.E2829D Missense 33/50 - 1
7-91712810-G-T c.8487G>T p.E2829D Missense 33/50 - 1
7-91712811-A-G c.8488A>G p.K2830E Missense 33/50 - 1
7-91712826-C-T c.8503C>T p.H2835Y Missense 33/50 - 1
7-91712831-T-A c.8508T>A p.A2836= Synonymous 33/50 - 1
7-91712833-C-CT c.8511dup p.E2838* Nonsense 33/50 - 1
7-91712836-A-G c.8513A>G p.E2838G Missense 33/50 - 1
7-91712835-G-GA c.8515dup p.I2839Nfs*13 Frameshift 33/50 - 1
7-91712841-T-G c.8518T>G p.L2840V Missense 33/50 - 1
7-91712854-C-A c.8531C>A p.S2844Y Missense 33/50 - 1
7-91712854-C-T c.8531C>T p.S2844F Missense 33/50 - 1
7-91712856-AGA-CAT c.8533_8535delinsCAT p.R2845H Missense 33/50 - 1
7-91712859-C-T c.8536C>T p.H2846Y Missense 33/50 - 2
7-91712861-T-C c.8538T>C p.H2846= Synonymous 33/50 - 1
7-91712868-G-A c.8545G>A p.E2849K Missense 33/50 - 2
7-91712874-G-A c.8551G>A p.E2851K Missense 33/50 - 1
7-91712875-A-C c.8552A>C p.E2851A Missense 33/50 - 1
7-91712880-T-G c.8557T>G p.L2853V Missense 33/50 - 2
7-91712881-T-C c.8558T>C p.L2853S Missense 33/50 - 1
7-91712885-G-C c.8562G>C p.K2854N Missense 33/50 - 1
7-91712886-AGG-CAT c.8563_8565delinsCAT p.R2855H Missense 33/50 - 1
7-91712887-G-T c.8564G>T p.R2855M Missense 33/50 - 1
7-91712892-C-T c.8569C>T p.H2857Y Missense 33/50 - 1
7-91712896-A-G c.8573A>G p.Y2858C Missense 33/50 - 3
7-91712897-T-C c.8574T>C p.Y2858= Synonymous 33/50 - 1
7-91712899-T-C c.8576T>C p.V2859A Missense 33/50 - 1
7-91712917-A-G c.8594A>G p.K2865R Missense 33/50 - 1
7-91712919-G-T c.8596G>T p.E2866* Nonsense 33/50 - 1
7-91712920-AG-A c.8599del p.E2867Nfs*5 Frameshift 33/50 - 1
7-91712931-AC-TG c.8608_8609delinsTG p.T2870C Missense 33/50 - 1
7-91712939-G-A c.8616G>A p.K2872= Synonymous 33/50 - 1
7-91712945-G-A c.8622G>A p.V2874= Synonymous 33/50 - 1
7-91712962-G-A c.8639G>A p.S2880N Missense 33/50 - 1
7-91712977-G-T c.8646+8G>T - IntronicSNV - 33/49 1
7-91713010-G-A c.8646+41G>A - IntronicSNV - 33/49 1
7-91713016-TTA-T c.8646+47_8646+48del - IntronicDeletion - 33/49 1
7-91713017-A-T c.8646+48A>T - IntronicSNV - 33/49 3
7-91713018-A-T c.8646+49A>T - IntronicSNV - 33/49 4
7-91713016-TAA-T c.8646+58_8646+59del - IntronicDeletion - 33/49 1
7-91713016-TA-T c.8646+59del - IntronicDeletion - 33/49 3
7-91713016-T-TA c.8646+59dup - IntronicInsertion - 33/49 1
7-91713874-G-A c.8647-80G>A - IntronicSNV - 33/49 1
7-91713957-T-G c.8650T>G p.S2884A Missense 34/50 - 3
7-91713961-C-T c.8654C>T p.S2885L Missense 34/50 - 3
7-91713963-A-G c.8656A>G p.I2886V Missense 34/50 - 6
7-91713966-C-A c.8659C>A p.P2887T Missense 34/50 - 1
7-91713966-C-T c.8659C>T p.P2887S Missense 34/50 - 2
7-91713967-C-A c.8660C>A p.P2887H Missense 34/50 - 1
7-91713967-C-G c.8660C>G p.P2887R Missense 34/50 - 2
7-91713972-C-T c.8665C>T p.L2889= Synonymous 34/50 - 20
7-91713974-A-C c.8667A>C p.L2889= Synonymous 34/50 - 1
7-91713974-A-G c.8667A>G p.L2889= Synonymous 34/50 - 1
7-91713974-A-T c.8667A>T p.L2889= Synonymous 34/50 - 1
7-91713979-A-C c.8672A>C p.H2891P Missense 34/50 - 1
7-91713984-G-C c.8677G>C p.D2893H Missense 34/50 - 1
7-91713996-A-G c.8689A>G p.T2897A Missense 34/50 - 1
7-91713999-A-C c.8692A>C p.R2898= Synonymous 34/50 - 1
7-91714002-G-A c.8695G>A p.E2899K Missense 34/50 - 2
7-91714012-C-G c.8705C>G p.S2902C Missense 34/50 - 1
7-91714139-G-C c.8717G>C p.G2906A Missense 35/50 - 1
7-91714150-G-A c.8728G>A p.G2910S Missense 35/50 - 1
7-91714153-C-T c.8731C>T p.Q2911* Nonsense 35/50 - 1
7-91714155-G-C c.8733G>C p.Q2911H Missense 35/50 - 1
7-91714156-GGA-TGT c.8734_8736delinsTGT p.G2912C Missense 35/50 - 1
7-91714157-G-A c.8735G>A p.G2912E Missense 35/50 - 1
7-91714150-GGTCAGGGAATTTATCTTACACACA-G c.8737_8760del p.I2913_G2920del InFrameDeletion 35/50 - 1
7-91714169-C-A c.8747C>A p.T2916K Missense 35/50 - 2
7-91714169-C-G c.8747C>G p.T2916R Missense 35/50 - 2
7-91714184-T-C c.8762T>C p.F2921S Missense 35/50 - 1
7-91714189-A-G c.8767A>G p.I2923V Missense 35/50 - 1
7-91714196-C-A c.8774C>A p.S2925* Nonsense 35/50 - 1
7-91714196-C-T c.8774C>T p.S2925L Missense 35/50 - 5
7-91714204-C-T c.8782C>T p.R2928* Nonsense 35/50 - 1
7-91714210-G-A c.8788G>A p.E2930K Missense 35/50 - 1
7-91714216-A-C c.8794A>C p.S2932R Missense 35/50 - 1
7-91714218-T-A c.8796T>A p.S2932R Missense 35/50 - 1
7-91714218-T-G c.8796T>G p.S2932R Missense 35/50 - 1
7-91714220-A-C c.8798A>C p.E2933A Missense 35/50 - 2
7-91714227-A-C c.8805A>C p.A2935= Synonymous 35/50 - 1
7-91714227-A-G c.8805A>G p.A2935= Synonymous 35/50 - 1
7-91714227-A-T c.8805A>T p.A2935= Synonymous 35/50 - 1
7-91714231-G-T c.8809G>T p.D2937Y Missense 35/50 - 1
7-91714235-C-T c.8813C>T p.S2938F Missense 35/50 - 4
7-91714236-C-A c.8814C>A p.S2938= Synonymous 35/50 - 1
7-91714236-C-G c.8814C>G p.S2938= Synonymous 35/50 - 1
7-91714236-C-T c.8814C>T p.S2938= Synonymous 35/50 - 1
7-91714241-C-T c.8819C>T p.P2940L Missense 35/50 - 3
7-91714245-G-C c.8823G>C p.K2941N Missense 35/50 - 1
7-91714245-G-T c.8823G>T p.K2941N Missense 35/50 - 1
7-91714246-A-G c.8824A>G p.K2942E Missense 35/50 - 1
7-91714250-T-A c.8828T>A p.I2943K Missense 35/50 - 1
7-91714253-A-G c.8831A>G p.K2944R Missense 35/50 - 1
7-91714816-T-A c.8840T>A p.L2947Q Missense 36/50 - 1
7-91714817-G-A c.8841G>A p.L2947= Synonymous 36/50 - 1
7-91714819-G-A c.8843G>A p.R2948K Missense 36/50 - 1
7-91714827-C-T c.8851C>T p.H2951Y Missense 36/50 - 2
7-91714839-A-C c.8863A>C p.M2955L Missense 36/50 - 1
7-91714839-A-T c.8863A>T p.M2955L Missense 36/50 - 1
7-91714845-GTG-TTT c.8869_8871delinsTTT p.V2957F Missense 36/50 - 1
7-91714867-C-T c.8891C>T p.P2964L Missense 36/50 - 3
7-91714871-T-A c.8895T>A p.Y2965* Nonsense 36/50 - 1
7-91714875-G-A c.8899G>A p.D2967N Missense 36/50 - 1
7-91714884-G-T c.8908G>T p.D2970Y Missense 36/50 - 1
7-91714887-C-T c.8911C>T p.H2971Y Missense 36/50 - 5
7-91714888-A-G c.8912A>G p.H2971R Missense 36/50 - 1
7-91714895-T-A c.8919T>A p.I2973= Synonymous 36/50 - 1
7-91714905-T-G c.8929T>G p.S2977A Missense 36/50 - 1
7-91714906-C-T c.8930C>T p.S2977L Missense 36/50 - 4
7-91714911-C-T c.8935C>T p.P2979S Missense 36/50 - 61
7-91714912-C-T c.8936C>T p.P2979L Missense 36/50 - 1
7-91714913-T-A c.8937T>A p.P2979= Synonymous 36/50 - 1
7-91714913-T-C c.8937T>C p.P2979= Synonymous 36/50 - 1
7-91714913-T-G c.8937T>G p.P2979= Synonymous 36/50 - 1
7-91714915-G-A c.8939G>A p.W2980* Nonsense 36/50 - 1
7-91714917-C-T c.8941C>T p.L2981= Synonymous 36/50 - 1
7-91714919-A-C c.8943A>C p.L2981= Synonymous 36/50 - 1
7-91714919-A-G c.8943A>G p.L2981= Synonymous 36/50 - 1
7-91714919-A-T c.8943A>T p.L2981= Synonymous 36/50 - 1
7-91714923-G-C c.8947G>C p.E2983Q Missense 36/50 - 1
7-91714925-G-T c.8949G>T p.E2983D Missense 36/50 - 1
7-91714931-A-G c.8955A>G p.K2985= Synonymous 36/50 - 1
7-91714932-G-A c.8956G>A p.A2986T Missense 36/50 - 1
7-91714940-C-G c.8964C>G p.I2988M Missense 36/50 - 2
7-91714944-A-G c.8968A>G p.T2990A Missense 36/50 - 1
7-91714943-TACA-T c.8969_8971del p.T2990del InFrameDeletion 36/50 - 1
7-91714949-C-G c.8973C>G p.I2991M Missense 36/50 - 1
7-91714951-C-T c.8975C>T p.S2992L Missense 36/50 - 2
7-91714946-AATCTC-A c.8976_8980del p.S2993Kfs*17 Frameshift 36/50 - 1
7-91714952-A-C c.8976A>C p.S2992= Synonymous 36/50 - 3
7-91714952-A-G c.8976A>G p.S2992= Synonymous 36/50 - 1
7-91714952-A-T c.8976A>T p.S2992= Synonymous 36/50 - 1
7-91714954-C-T c.8978C>T p.S2993F Missense 36/50 - 3
7-91714969-T-C c.8993T>C p.I2998T Missense 36/50 - 1
7-91714971-A-G c.8995A>G p.T2999A Missense 36/50 - 1
7-91714974-A-C c.8998A>C p.K3000Q Missense 36/50 - 1
7-91714981-A-G c.9005A>G p.Q3002R Missense 36/50 - 1
7-91714989-AG-CA c.9013_9014delinsCA p.R3005Q Missense 36/50 - 1
7-91714993-A-G c.9017A>G p.E3006G Missense 36/50 - 1
7-91714996-C-T c.9020C>T p.A3007V Missense 36/50 - 1
7-91714998-G-A c.9022G>A p.E3008K Missense 36/50 - 2
7-91714998-G-C c.9022G>C p.E3008Q Missense 36/50 - 1
7-91715546-A-G c.9029A>G p.Y3010C Missense 37/50 - 1
7-91715548-G-A c.9031G>A p.D3011N Missense 37/50 - 1
7-91715549-A-G c.9032A>G p.D3011G Missense 37/50 - 1
7-91715550-T-C c.9033T>C p.D3011= Synonymous 37/50 - 1
7-91715551-AG-CT c.9034_9035inv p.S3012L Missense 37/50 - 1
7-91715552-G-C c.9035G>C p.S3012T Missense 37/50 - 1
7-91715563-C-G c.9046C>G p.H3016D Missense 37/50 - 1
7-91715563-C-T c.9046C>T p.H3016Y Missense 37/50 - 3
7-91715566-G-C c.9049G>C p.E3017Q Missense 37/50 - 1
7-91715570-G-A c.9053G>A p.S3018N Missense 37/50 - 1
7-91715570-G-T c.9053G>T p.S3018I Missense 37/50 - 1
7-91715572-T-C c.9055T>C p.F3019L Missense 37/50 - 1
7-91715574-C-A c.9057C>A p.F3019L Missense 37/50 - 1
7-91715573-T-C c.9056T>C p.F3019S Missense 37/50 - 1
7-91715574-C-G c.9057C>G p.F3019L Missense 37/50 - 2
7-91715575-TC-AG c.9058_9059delinsAG p.S3020R Missense 37/50 - 1
7-91715584-C-T c.9067C>T p.R3023* Nonsense 37/50 - 2
7-91715585-G-A c.9068G>A p.R3023Q Missense 37/50 - 2
7-91715602-G-A c.9085G>A p.A3029T Missense 37/50 - 1
7-91715609-A-G c.9092A>G p.Q3031R Missense 37/50 - 4
7-91715611-C-G c.9094C>G p.Q3032E Missense 37/50 - 1
7-91715613-A-G c.9096A>G p.Q3032= Synonymous 37/50 - 2
7-91715617-T-C c.9100T>C p.F3034L Missense 37/50 - 2
7-91715617-T-G c.9100T>G p.F3034V Missense 37/50 - 1
7-91715619-C-A c.9102C>A p.F3034L Missense 37/50 - 3
7-91715619-C-G c.9102C>G p.F3034L Missense 37/50 - 2
7-91715623-G-C c.9106G>C p.E3036Q Missense 37/50 - 1
7-91715624-A-G c.9107A>G p.E3036G Missense 37/50 - 2
7-91715626-G-C c.9109G>C p.E3037Q Missense 37/50 - 1
7-91715629-CGT-TGG c.9112_9114delinsTGG p.R3038W Missense 37/50 - 2
7-91715629-C-T c.9112C>T p.R3038C Missense 37/50 - 2
7-91715632-A-G c.9115A>G p.S3039G Missense 37/50 - 1
7-91715638-T-C c.9121T>C p.L3041= Synonymous 37/50 - 8
7-91715640-A-G c.9123A>G p.L3041= Synonymous 37/50 - 8
7-91715651-T-C c.9134T>C p.F3045S Missense 37/50 - 1
7-91715653-C-T c.9136C>T p.R3046W Missense 37/50 - 5
7-91715654-G-A c.9137G>A p.R3046Q Missense 37/50 - 2
7-91715657-C-T c.9140C>T p.T3047M Missense 37/50 - 1
7-91715658-G-A c.9141G>A p.T3047= Synonymous 37/50 - 4
7-91715658-G-C c.9141G>C p.T3047= Synonymous 37/50 - 1
7-91715658-G-T c.9141G>T p.T3047= Synonymous 37/50 - 1
7-91715662-C-T c.9145C>T p.L3049= Synonymous 37/50 - 21
7-91715664-G-A c.9147G>A p.L3049= Synonymous 37/50 - 1
7-91715664-G-C c.9147G>C p.L3049= Synonymous 37/50 - 1
7-91715664-G-T c.9147G>T p.L3049= Synonymous 37/50 - 1
7-91715665-A-G c.9148A>G p.T3050A Missense 37/50 - 2
7-91715671-C-A c.9154C>A p.L3052I Missense 37/50 - 1
7-91715671-C-G c.9154C>G p.L3052V Missense 37/50 - 1
7-91715671-C-T c.9154C>T p.L3052= Synonymous 37/50 - 3
7-91715673-A-C c.9156A>C p.L3052= Synonymous 37/50 - 1
7-91715673-A-G c.9156A>G p.L3052= Synonymous 37/50 - 1
7-91715673-A-T c.9156A>T p.L3052= Synonymous 37/50 - 1
7-91715677-A-G c.9160A>G p.T3054A Missense 37/50 - 1
7-91715678-C-T c.9161C>T p.T3054I Missense 37/50 - 1
7-91715680-A-C c.9163A>C p.T3055P Missense 37/50 - 1
7-91715682-A-T c.9165A>T p.T3055= Synonymous 37/50 - 1
7-91715686-G-C c.9169G>C p.A3057P Missense 37/50 - 1
7-91715687-C-T c.9170C>T p.A3057V Missense 37/50 - 1
7-91715690-T-C c.9173T>C p.V3058A Missense 37/50 - 1
7-91715699-T-C c.9182T>C p.L3061P Missense 37/50 - 1
7-91715702-A-G c.9185A>G p.N3062S Missense 37/50 - 1
7-91715706-T-A c.9189T>A p.C3063* Nonsense 37/50 - 1
7-91715708-T-A c.9191T>A p.L3064* Nonsense 37/50 - 1
7-91715710-G-T c.9193G>T p.E3065* Nonsense 37/50 - 1
7-91715716-AGA-CAT c.9199_9201delinsCAT p.R3067H Missense 37/50 - 1
7-91715717-G-C c.9200G>C p.R3067T Missense 37/50 - 1
7-91715720-T-A c.9203T>A p.I3068K Missense 37/50 - 1
7-91715721-A-G c.9204A>G p.I3068M Missense 37/50 - 1
7-91715724-A-C c.9207A>C p.Q3069H Missense 37/50 - 1
7-91715724-A-G c.9207A>G p.Q3069= Synonymous 37/50 - 1
7-91715729-A-C c.9212A>C p.Q3071P Missense 37/50 - 1
7-91716104-G-A c.9213+374G>A - IntronicSNV - 37/49 2
7-91718631-T-A c.9214-68T>A - IntronicSNV - 37/49 1
7-91718632-T-A c.9214-67T>A - IntronicSNV - 37/49 1
7-91718702-G-T c.9217G>T p.V3073F Missense 38/50 - 1
7-91718705-G-C c.9220G>C p.E3074Q Missense 38/50 - 4
7-91718714-G-C c.9229G>C p.A3077P Missense 38/50 - 2
7-91718715-C-A c.9230C>A p.A3077E Missense 38/50 - 1
7-91718720-A-G c.9235A>G p.M3079V Missense 38/50 - 1
7-91718723-G-A c.9238G>A p.E3080K Missense 38/50 - 1
7-91718730-T-C c.9245T>C p.L3082P Missense 38/50 - 1
7-91718740-CA-C c.9255del p.D3086Ifs*16 Frameshift 38/50 - 1
7-91718745-G-A c.9260G>A p.R3087K Missense 38/50 - 1
7-91718752-T-C c.9267T>C p.S3089= Synonymous 38/50 - 1
7-91718754-T-C c.9269T>C p.L3090S Missense 38/50 - 1
7-91718761-T-G c.9276T>G p.S3092= Synonymous 38/50 - 1
7-91718774-C-T c.9289C>T p.L3097= Synonymous 38/50 - 1
7-91718781-C-A c.9296C>A p.A3099E Missense 38/50 - 1
7-91718783-C-A c.9298C>A p.Q3100K Missense 38/50 - 1
7-91718790-A-G c.9305A>G p.N3102S Missense 38/50 - 2
7-91718793-G-T c.9308G>T p.G3103V Missense 38/50 - 1
7-91718797-G-A c.9312G>A p.R3104= Synonymous 38/50 - 1
7-91718797-G-C c.9312G>C p.R3104S Missense 38/50 - 1
7-91718809-G-A c.9324G>A p.L3108= Synonymous 38/50 - 3
7-91718810-A-G c.9325A>G p.K3109E Missense 38/50 - 1
7-91718821-A-C c.9336A>C p.Q3112H Missense 38/50 - 1
7-91718821-A-T c.9336A>T p.Q3112H Missense 38/50 - 1
7-91718822-G-A c.9337G>A p.E3113K Missense 38/50 - 1
7-91718833-A-C c.9348A>C p.K3116N Missense 38/50 - 9
7-91718833-A-T c.9348A>T p.K3116N Missense 38/50 - 6
7-91718834-C-A c.9349C>A p.P3117T Missense 38/50 - 1
7-91718842-A-C c.9357A>C p.Q3119H Missense 38/50 - 1
7-91718874-A-G c.9358+31A>G - IntronicSNV - 38/49 1
7-91718874-A-T c.9358+31A>T - IntronicSNV - 38/49 1
7-91719010-G-A c.9358+167G>A - IntronicSNV - 38/49 1
7-91719035-A-T c.9358+192A>T - IntronicSNV - 38/49 1
7-91719168-G-A c.9358+325G>A - IntronicSNV - 38/49 2
7-91719608-C-T c.9358+765C>T - IntronicSNV - 38/49 2
7-91721581-A-G c.9359-830A>G - IntronicSNV - 38/49 1
7-91721581-A-T c.9359-830A>T - IntronicSNV - 38/49 1
7-91722388-A-G c.9359-23A>G - IntronicSNV - 38/49 1
7-91722412-A-G c.9360A>G p.E3120= Synonymous 39/50 - 1
7-91722422-T-A c.9370T>A p.Y3124N Missense 39/50 - 1
7-91722429-T-C c.9377T>C p.I3126T Missense 39/50 - 3
7-91722446-C-G c.9394C>G p.Q3132E Missense 39/50 - 3
7-91722461-C-G c.9409C>G p.Q3137E Missense 39/50 - 2
7-91722476-AG-CT c.9424_9425inv p.S3142L Missense 39/50 - 1
7-91722477-G-T c.9425G>T p.S3142I Missense 39/50 - 1
7-91722481-G-A c.9429G>A p.M3143I Missense 39/50 - 2
7-91722481-G-C c.9429G>C p.M3143I Missense 39/50 - 2
7-91722481-G-T c.9429G>T p.M3143I Missense 39/50 - 3
7-91722483-AAGAC-A c.9435_9438del p.D3145Efs*9 Frameshift 39/50 - 1
7-91722493-A-C c.9441A>C p.A3147= Synonymous 39/50 - 1
7-91722493-A-G c.9441A>G p.A3147= Synonymous 39/50 - 1
7-91722493-A-T c.9441A>T p.A3147= Synonymous 39/50 - 1
7-91722495-C-T c.9443C>T p.T3148M Missense 39/50 - 1
7-91722503-C-T c.9451C>T p.Q3151* Nonsense 39/50 - 1
7-91722506-G-T c.9454G>T p.E3152* Nonsense 39/50 - 3
7-91722507-A-G c.9455A>G p.E3152G Missense 39/50 - 1
7-91722512-C-T c.9460C>T p.L3154= Synonymous 39/50 - 1
7-91722514-G-A c.9462G>A p.L3154= Synonymous 39/50 - 2
7-91722514-G-C c.9462G>C p.L3154= Synonymous 39/50 - 1
7-91722514-G-T c.9462G>T p.L3154= Synonymous 39/50 - 1
7-91722520-T-A c.9468T>A p.S3156= Synonymous 39/50 - 1
7-91722520-T-C c.9468T>C p.S3156= Synonymous 39/50 - 1
7-91722520-T-G c.9468T>G p.S3156= Synonymous 39/50 - 1
7-91722522-A-G c.9470A>G p.E3157G Missense 39/50 - 1
7-91722527-A-C c.9475A>C p.M3159L Missense 39/50 - 1
7-91722527-A-T c.9475A>T p.M3159L Missense 39/50 - 1
7-91722539-G-T c.9487G>T p.E3163* Nonsense 39/50 - 3
7-91722542-C-A c.9490C>A p.L3164M Missense 39/50 - 3
7-91722551-G-T c.9499G>T p.E3167* Nonsense 39/50 - 1
7-91722553-G-C c.9501G>C p.E3167D Missense 39/50 - 2
7-91722553-G-T c.9501G>T p.E3167D Missense 39/50 - 2
7-91722554-C-G c.9502C>G p.L3168V Missense 39/50 - 1
7-91722554-CTT-ATG c.9502_9504delinsATG p.L3168M Missense 39/50 - 1
7-91722558-C-T c.9506C>T p.A3169V Missense 39/50 - 1
7-91722569-T-C c.9517T>C p.L3173= Synonymous 39/50 - 1
7-91722571-G-A c.9519G>A p.L3173= Synonymous 39/50 - 1
7-91722587-C-T c.9535C>T p.L3179F Missense 39/50 - 2
7-91722589-C-A c.9537C>A p.L3179= Synonymous 39/50 - 2
7-91722589-C-G c.9537C>G p.L3179= Synonymous 39/50 - 2
7-91722590-A-G c.9538A>G p.K3180E Missense 39/50 - 1
7-91722594-C-T c.9542C>T p.A3181V Missense 39/50 - 2
7-91722598-G-A c.9546G>A p.Q3182= Synonymous 39/50 - 1
7-91722598-G-C c.9546G>C p.Q3182H Missense 39/50 - 1
7-91722598-G-T c.9546G>T p.Q3182H Missense 39/50 - 1
7-91722608-CT-TA c.9556_9557delinsTA p.L3186* Nonsense 39/50 - 1
7-91722615-A-G c.9563A>G p.E3188G Missense 39/50 - 2
7-91722616-A-T c.9564A>T p.E3188D Missense 39/50 - 1
7-91722619-G-C c.9567G>C p.L3189F Missense 39/50 - 1
7-91722619-G-T c.9567G>T p.L3189F Missense 39/50 - 1
7-91722630-G-A c.9578G>A p.R3193K Missense 39/50 - 1
7-91722966-A-G c.9578+336A>G - IntronicSNV - 39/49 1
7-91724337-G-A c.9579G>A p.R3193= Synonymous 40/50 - 1
7-91724337-G-C c.9579G>C p.R3193S Missense 40/50 - 1
7-91724337-G-T c.9579G>T p.R3193S Missense 40/50 - 1
7-91724339-T-A c.9581T>A p.L3194* Nonsense 40/50 - 1
7-91724368-C-T c.9610C>T p.H3204Y Missense 40/50 - 1
7-91724378-A-G c.9620A>G p.N3207S Missense 40/50 - 2
7-91724381-A-G c.9623A>G p.D3208G Missense 40/50 - 1
7-91724387-T-G c.9629T>G p.L3210* Nonsense 40/50 - 1
7-91724406-A-G c.9648A>G p.K3216= Synonymous 40/50 - 2
7-91724408-C-G c.9650C>G p.S3217* Nonsense 40/50 - 1
7-91724412-GA-G c.9654del p.E3219Sfs*27 Frameshift 40/50 - 1
7-91724415-G-T c.9657G>T p.E3219D Missense 40/50 - 1
7-91724416-C-A c.9658C>A p.L3220I Missense 40/50 - 1
7-91724419-C-A c.9661C>A p.Q3221K Missense 40/50 - 1
7-91724423-G-T c.9665G>T p.W3222L Missense 40/50 - 1
7-91724426-C-G c.9668C>G p.A3223G Missense 40/50 - 1
7-91724430-G-C c.9672G>C p.L3224F Missense 40/50 - 1
7-91724430-G-T c.9672G>T p.L3224F Missense 40/50 - 1
7-91724431-G-C c.9673G>C p.E3225Q Missense 40/50 - 1
7-91724443-G-T c.9685G>T p.A3229S Missense 40/50 - 2
7-91724446-A-G c.9688A>G p.K3230E Missense 40/50 - 1
7-91724447-A-G c.9689A>G p.K3230R Missense 40/50 - 2
7-91724455-C-T c.9697C>T p.R3233C Missense 40/50 - 6
7-91724456-G-A c.9698G>A p.R3233H Missense 40/50 - 3
7-91724467-CGG-TGT c.9709_9711delinsTGT p.R3237C Missense 40/50 - 1
7-91724467-C-T c.9709C>T p.R3237W Missense 40/50 - 5
7-91724468-G-A c.9710G>A p.R3237Q Missense 40/50 - 1
7-91724470-G-T c.9712G>T p.D3238Y Missense 40/50 - 2
7-91724478-A-C c.9720A>C p.E3240D Missense 40/50 - 1
7-91724478-A-T c.9720A>T p.E3240D Missense 40/50 - 1
7-91724479-G-A c.9721G>A p.E3241K Missense 40/50 - 1
7-91725149-G-A c.9729+662G>A - IntronicSNV - 40/49 1
7-91725903-G-A c.9730-100G>A - IntronicSNV - 40/49 1
7-91726006-C-T c.9733C>T p.L3245= Synonymous 41/50 - 1
7-91726008-G-A c.9735G>A p.L3245= Synonymous 41/50 - 1
7-91726008-G-C c.9735G>C p.L3245= Synonymous 41/50 - 1
7-91726008-G-T c.9735G>T p.L3245= Synonymous 41/50 - 1
7-91726010-A-C c.9737A>C p.K3246T Missense 41/50 - 1
7-91726016-C-T c.9743C>T p.S3248L Missense 41/50 - 4
7-91726023-G-C c.9750G>C p.E3250D Missense 41/50 - 1
7-91726029-G-A c.9756G>A p.Q3252= Synonymous 41/50 - 1
7-91726036-A-G c.9763A>G p.R3255G Missense 41/50 - 4
7-91726037-G-A c.9764G>A p.R3255K Missense 41/50 - 2
7-91726038-G-C c.9765G>C p.R3255S Missense 41/50 - 1
7-91726041-T-A c.9768T>A p.N3256K Missense 41/50 - 1
7-91726041-T-G c.9768T>G p.N3256K Missense 41/50 - 1
7-91726044-T-A c.9771T>A p.L3257= Synonymous 41/50 - 1
7-91726044-T-C c.9771T>C p.L3257= Synonymous 41/50 - 1
7-91726044-T-G c.9771T>G p.L3257= Synonymous 41/50 - 1
7-91726054-C-A c.9781C>A p.L3261I Missense 41/50 - 1
7-91726086-C-T c.9813C>T p.N3271= Synonymous 41/50 - 2
7-91726087-G-A c.9814G>A p.E3272K Missense 41/50 - 2
7-91726093-C-T c.9820C>T p.Q3274* Nonsense 41/50 - 1
7-91726103-T-C c.9830T>C p.I3277T Missense 41/50 - 5
7-91726103-T-G c.9830T>G p.I3277R Missense 41/50 - 2
7-91726108-T-TA c.9835_9836insA p.S3279Yfs*7 Frameshift 41/50 - 1
7-91726115-G-C c.9842G>C p.R3281T Missense 41/50 - 1
7-91726116-A-C c.9843A>C p.R3281S Missense 41/50 - 1
7-91726119-G-A c.9846G>A p.M3282I Missense 41/50 - 1
7-91726119-G-C c.9846G>C p.M3282I Missense 41/50 - 1
7-91726119-G-T c.9846G>T p.M3282I Missense 41/50 - 1
7-91726124-A-G c.9851A>G p.Y3284C Missense 41/50 - 1
7-91726129-G-A c.9856G>A p.A3286T Missense 41/50 - 1
7-91726130-C-T c.9857C>T p.A3286V Missense 41/50 - 1
7-91726131-C-T c.9858C>T p.A3286= Synonymous 41/50 - 1
7-91726133-A-G c.9860A>G p.Q3287R Missense 41/50 - 1
7-91726137-G-C c.9864G>C p.L3288F Missense 41/50 - 1
7-91726137-G-T c.9864G>T p.L3288F Missense 41/50 - 1
7-91726139-C-T c.9866C>T p.S3289L Missense 41/50 - 1
7-91726141-G-A c.9868G>A p.E3290K Missense 41/50 - 1
7-91726153-C-T c.9880C>T p.R3294* Nonsense 41/50 - 6
7-91726154-G-A c.9881G>A p.R3294Q Missense 41/50 - 1
7-91726162-G-A c.9889G>A p.E3297K Missense 41/50 - 2
7-91726162-G-C c.9889G>C p.E3297Q Missense 41/50 - 2
7-91726163-A-G c.9890A>G p.E3297G Missense 41/50 - 1
7-91726165-C-A c.9892C>A p.L3298I Missense 41/50 - 1
7-91726169-A-G c.9896A>G p.Q3299R Missense 41/50 - 1
7-91726177-C-A c.9904C>A p.L3302I Missense 41/50 - 2
7-91726195-C-T c.9922C>T p.R3308* Nonsense 41/50 - 12
7-91726196-G-A c.9923G>A p.R3308Q Missense 41/50 - 1
7-91726196-G-T c.9923G>T p.R3308L Missense 41/50 - 1
7-91726201-C-A c.9928C>A p.R3310= Synonymous 41/50 - 1
7-91726201-C-T c.9928C>T p.R3310W Missense 41/50 - 8
7-91726203-G-A c.9930G>A p.R3310= Synonymous 41/50 - 1
7-91726203-G-C c.9930G>C p.R3310= Synonymous 41/50 - 1
7-91726203-G-T c.9930G>T p.R3310= Synonymous 41/50 - 1
7-91726202-G-A c.9929G>A p.R3310Q Missense 41/50 - 6
7-91726202-G-C c.9929G>C p.R3310P Missense 41/50 - 1
7-91726204-G-A c.9931G>A p.E3311K Missense 41/50 - 1
7-91726209-G-A c.9936G>A p.M3312I Missense 41/50 - 1
7-91726209-G-C c.9936G>C p.M3312I Missense 41/50 - 1
7-91726209-G-T c.9936G>T p.M3312I Missense 41/50 - 1
7-91726211-G-A c.9938G>A p.S3313N Missense 41/50 - 1
7-91726216-A-G c.9943A>G p.T3315A Missense 41/50 - 4
7-91726217-C-T c.9944C>T p.T3315I Missense 41/50 - 2
7-91726231-C-T c.9958C>T p.R3320W Missense 41/50 - 1
7-91726232-G-A c.9959G>A p.R3320Q Missense 41/50 - 1
7-91726232-G-T c.9959G>T p.R3320L Missense 41/50 - 1
7-91726234-G-T c.9961G>T p.E3321* Nonsense 41/50 - 1
7-91726242-C-T c.9969C>T p.H3323= Synonymous 41/50 - 2
7-91726243-G-A c.9970G>A p.A3324T Missense 41/50 - 4
7-91726244-C-T c.9971C>T p.A3324V Missense 41/50 - 5
7-91726253-A-G c.9980A>G p.Q3327R Missense 41/50 - 1
7-91726253-A-T c.9980A>T p.Q3327L Missense 41/50 - 1
7-91726253-A-AGG c.9981_9982insGG p.S3328Gfs*19 Frameshift 41/50 - 2
7-91726254-G-C c.9981G>C p.Q3327H Missense 41/50 - 1
7-91726254-G-T c.9981G>T p.Q3327H Missense 41/50 - 1
7-91726263-T-C c.9990T>C p.D3330= Synonymous 41/50 - 1
7-91726273-C-A c.10000C>A p.Q3334K Missense 41/50 - 1
7-91726282-C-T c.10009C>T p.P3337S Missense 41/50 - 1
7-91726284-A-C c.10011A>C p.P3337= Synonymous 41/50 - 1
7-91726284-A-G c.10011A>G p.P3337= Synonymous 41/50 - 1
7-91726284-A-T c.10011A>T p.P3337= Synonymous 41/50 - 1
7-91726286-C-A c.10013C>A p.P3338H Missense 41/50 - 1
7-91726292-C-T c.10019C>T p.P3340L Missense 41/50 - 2
7-91726294-TC-AT c.10021_10022delinsAT p.S3341I Missense 41/50 - 1
7-91726295-CA-TT c.10022_10023delinsTT p.S3341F Missense 41/50 - 1
7-91726295-C-T c.10022C>T p.S3341L Missense 41/50 - 1
7-91726300-G-A c.10027G>A p.D3343N Missense 41/50 - 1
7-91726301-A-G c.10028A>G p.D3343G Missense 41/50 - 1
7-91726307-T-G c.10034T>G p.L3345R Missense 41/50 - 1
7-91726308-G-A c.10035G>A p.L3345= Synonymous 41/50 - 1
7-91726312-G-A c.10039G>A p.E3347K Missense 41/50 - 1
7-91726322-A-C c.10049A>C p.K3350T Missense 41/50 - 1
7-91726320-GA-G c.10050del p.K3350Nfs*3 Frameshift 41/50 - 1
7-91726327-C-T c.10054C>T p.L3352= Synonymous 41/50 - 1
7-91726330-G-A c.10057G>A p.E3353K Missense 41/50 - 1
7-91726334-A-G c.10061A>G p.E3354G Missense 41/50 - 2
7-91726343-G-A c.10070G>A p.S3357N Missense 41/50 - 1
7-91726351-G-C c.10078G>C p.V3360L Missense 41/50 - 1
7-91726359-G-C c.10086G>C p.L3362F Missense 41/50 - 1
7-91726359-G-T c.10086G>T p.L3362F Missense 41/50 - 1
7-91726366-G-A c.10093G>A p.E3365K Missense 41/50 - 1
7-91726366-G-C c.10093G>C p.E3365Q Missense 41/50 - 1
7-91726366-G-T c.10093G>T p.E3365* Nonsense 41/50 - 2
7-91726372-G-C c.10099G>C p.E3367Q Missense 41/50 - 1
7-91726372-GA-G c.10104del p.K3368Nfs*62 Frameshift 41/50 - 1
7-91726389-T-A c.10116T>A p.D3372E Missense 41/50 - 2
7-91726389-T-G c.10116T>G p.D3372E Missense 41/50 - 2
7-91726391-C-A c.10118C>A p.S3373Y Missense 41/50 - 11
7-91726391-C-G c.10118C>G p.S3373C Missense 41/50 - 1
7-91726391-C-T c.10118C>T p.S3373F Missense 41/50 - 1
7-91726396-C-A c.10123C>A p.Q3375K Missense 41/50 - 2
7-91726400-C-A c.10127C>A p.T3376K Missense 41/50 - 1
7-91726400-C-G c.10127C>G p.T3376R Missense 41/50 - 1
7-91726400-C-T c.10127C>T p.T3376I Missense 41/50 - 1
7-91726402-C-T c.10129C>T p.R3377* Nonsense 41/50 - 1
7-91726403-G-A c.10130G>A p.R3377Q Missense 41/50 - 3
7-91726418-A-C c.10145A>C p.K3382T Missense 41/50 - 1
7-91726420-AG-A c.10147del p.D3383Ifs*47 Frameshift 41/50 - 1
7-91726427-A-C c.10154A>C p.Q3385P Missense 41/50 - 1
7-91726427-A-AG c.10156dup p.V3386Gfs*15 Frameshift 41/50 - 1
7-91726427-AG-A c.10156del p.V3386Ffs*44 Frameshift 41/50 - 1
7-91726432-C-T c.10159C>T p.H3387Y Missense 41/50 - 1
7-91726440-A-C c.10167A>C p.K3389N Missense 41/50 - 1
7-91726444-C-T c.10171C>T p.L3391= Synonymous 41/50 - 1
7-91726450-A-G c.10177A>G p.T3393A Missense 41/50 - 1
7-91726451-CA-TG c.10178_10179inv p.T3393M Missense 41/50 - 1
7-91726463-C-T c.10190C>T p.A3397V Missense 41/50 - 1
7-91726470-T-C c.10197T>C p.T3399= Synonymous 41/50 - 2
7-91726471-G-A c.10198G>A p.E3400K Missense 41/50 - 1
7-91726471-G-T c.10198G>T p.E3400* Nonsense 41/50 - 1
7-91726475-G-A c.10202G>A p.G3401E Missense 41/50 - 1
7-91726477-C-A c.10204C>A p.Q3402K Missense 41/50 - 2
7-91726478-A-C c.10205A>C p.Q3402P Missense 41/50 - 1
7-91726479-G-A c.10206G>A p.Q3402= Synonymous 41/50 - 1
7-91726480-A-G c.10207A>G p.K3403E Missense 41/50 - 1
7-91726479-G-GA c.10213dup p.M3405Nfs*3 Frameshift 41/50 - 1
7-91726494-G-GC c.10222dup p.L3408Pfs*21 Frameshift 41/50 - 1
7-91726495-C-A c.10222C>A p.L3408I Missense 41/50 - 1
7-91726495-GC-G c.10222del p.L3408Sfs*22 Frameshift 41/50 - 1
7-91726498-C-T c.10225C>T p.Q3409* Nonsense 41/50 - 1
7-91726506-A-C c.10233A>C p.K3411N Missense 41/50 - 1
7-91726508-T-C c.10235T>C p.V3412A Missense 41/50 - 1
7-91726510-G-A c.10237G>A p.E3413K Missense 41/50 - 1
7-91726511-A-G c.10238A>G p.E3413G Missense 41/50 - 1
7-91726516-C-T c.10243C>T p.L3415F Missense 41/50 - 1
7-91726518-T-TC c.10246dup p.Q3416Pfs*13 Frameshift 41/50 - 1
7-91726522-C-T c.10249C>T p.R3417C Missense 41/50 - 5
7-91726523-G-A c.10250G>A p.R3417H Missense 41/50 - 4
7-91726523-G-C c.10250G>C p.R3417P Missense 41/50 - 1
7-91726527-G-C c.10254G>C p.Q3418H Missense 41/50 - 7
7-91726527-G-T c.10254G>T p.Q3418H Missense 41/50 - 1
7-91726534-G-A c.10261G>A p.E3421K Missense 41/50 - 1
7-91726535-A-G c.10262A>G p.E3421G Missense 41/50 - 1
7-91726536-G-C c.10263G>C p.E3421D Missense 41/50 - 1
7-91726536-G-T c.10263G>T p.E3421D Missense 41/50 - 1
7-91726545-A-T c.10272A>T p.Q3424H Missense 41/50 - 1
7-91726556-AG-TCTTTCAA c.10283_10284delinsTCTTTCAA p.K3428delinsIFQ MultiAAMissense 41/50 - 1
7-91726569-A-T c.10296A>T p.E3432D Missense 41/50 - 1
7-91726570-G-A c.10297G>A p.G3433R Missense 41/50 - 1
7-91726570-G-C c.10297G>C p.G3433R Missense 41/50 - 1
7-91726573-C-T c.10300C>T p.Q3434* Nonsense 41/50 - 1
7-91726576-C-T c.10303C>T p.R3435* Nonsense 41/50 - 6
7-91726581-A-G c.10308A>G p.L3436= Synonymous 41/50 - 1
7-91726586-G-T c.10313G>T p.G3438V Missense 41/50 - 2
7-91726592-T-C c.10319T>C p.M3440T Missense 41/50 - 1
7-91726596-G-T c.10323G>T p.Q3441H Missense 41/50 - 1
7-91726597-G-A c.10324G>A p.E3442K Missense 41/50 - 1
7-91726603-C-T c.10330C>T p.Q3444* Nonsense 41/50 - 1
7-91726604-A-G c.10331A>G p.Q3444R Missense 41/50 - 7
7-91726605-G-T c.10332G>T p.Q3444H Missense 41/50 - 1
7-91726612-G-GA c.10341dup p.L3448Tfs*10 Frameshift 41/50 - 2
7-91726621-C-T c.10348C>T p.R3450* Nonsense 41/50 - 1
7-91726622-G-A c.10349G>A p.R3450Q Missense 41/50 - 1
7-91726622-G-GA c.10350dup p.E3451Rfs*7 Frameshift 41/50 - 1
7-91726627-G-A c.10354G>A p.E3452K Missense 41/50 - 1
7-91726629-A-G c.10356A>G p.E3452= Synonymous 41/50 - 1
7-91726633-C-T c.10360C>T p.R3454* Nonsense 41/50 - 1
7-91726634-G-A c.10361G>A p.R3454Q Missense 41/50 - 3
7-91726636-G-C c.10363G>C p.E3455Q Missense 41/50 - 1
7-91726638-A-G c.10365A>G p.E3455= Synonymous 41/50 - 1
7-91726643-G-A c.10370G>A p.R3457K Missense 41/50 - 1
7-91726643-G-C c.10370G>C p.R3457T Missense 41/50 - 1
7-91726645-AG-CA c.10372_10373delinsCA p.R3458Q Missense 41/50 - 1
7-91726646-G-A c.10373G>A p.R3458K Missense 41/50 - 2
7-91726900-C-A c.10399C>A p.P3467T Missense 42/50 - 1
7-91726903-A-G c.10402A>G p.T3468A Missense 42/50 - 1
7-91726907-C-T c.10406C>T p.T3469M Missense 42/50 - 3
7-91726916-T-TA c.10417dup p.T3473Nfs*3 Frameshift 42/50 - 1
7-91726919-CC-TG c.10418_10419delinsTG p.T3473M Missense 42/50 - 2
7-91726919-C-T c.10418C>T p.T3473I Missense 42/50 - 2
7-91726928-G-C c.10427G>C p.R3476T Missense 42/50 - 1
7-91726927-A-C c.10426A>C p.R3476= Synonymous 42/50 - 22
7-91726929-A-G c.10428A>G p.R3476= Synonymous 42/50 - 1
7-91726936-A-C c.10435A>C p.N3479H Missense 42/50 - 1
7-91726940-G-A c.10439G>A p.W3480* Nonsense 42/50 - 1
7-91726941-G-A c.10440G>A p.W3480* Nonsense 42/50 - 1
7-91726945-C-A c.10444C>A p.L3482I Missense 42/50 - 7
7-91726945-C-T c.10444C>T p.L3482F Missense 42/50 - 1
7-91726960-G-A c.10459G>A p.E3487K Missense 42/50 - 6
7-91726960-G-C c.10459G>C p.E3487Q Missense 42/50 - 2
7-91726960-G-T c.10459G>T p.E3487* Nonsense 42/50 - 1
7-91726969-ACA-TGT c.10468_10470inv p.T3490C Missense 42/50 - 1
7-91726969-A-G c.10468A>G p.T3490A Missense 42/50 - 1
7-91726987-G-A c.10486G>A p.A3496T Missense 42/50 - 1
7-91726988-C-T c.10487C>T p.A3496V Missense 42/50 - 1
7-91726995-G-C c.10494G>C p.L3498F Missense 42/50 - 1
7-91726995-G-T c.10494G>T p.L3498F Missense 42/50 - 1
7-91726996-A-G c.10495A>G p.I3499V Missense 42/50 - 1
7-91726999-G-A c.10498G>A p.E3500K Missense 42/50 - 2
7-91726999-G-C c.10498G>C p.E3500Q Missense 42/50 - 1
7-91727003-T-C c.10502T>C p.M3501T Missense 42/50 - 1
7-91727005-A-G c.10504A>G p.N3502D Missense 42/50 - 1
7-91727014-G-T c.10513G>T p.G3505* Nonsense 42/50 - 1
7-91727018-C-T c.10517C>T p.T3506I Missense 42/50 - 1
7-91727020-G-A c.10519G>A p.G3507S Missense 42/50 - 1
7-91727020-G-C c.10519G>C p.G3507R Missense 42/50 - 1
7-91727019-C-CGGTT c.10520_10521insTTGG p.C3508Wfs*3 Frameshift 42/50 - 1
7-91727024-G-A c.10523G>A p.C3508Y Missense 42/50 - 1
7-91727027-A-G c.10526A>G p.N3509S Missense 42/50 - 1
7-91727061-A-C c.10560A>C p.Q3520H Missense 42/50 - 1
7-91727061-A-G c.10560A>G p.Q3520= Synonymous 42/50 - 1
7-91727061-A-T c.10560A>T p.Q3520H Missense 42/50 - 1
7-91727074-A-C c.10573A>C p.K3525Q Missense 42/50 - 2
7-91727084-T-C c.10583T>C p.V3528A Missense 42/50 - 4
7-91727086-C-T c.10585C>T p.L3529= Synonymous 42/50 - 1
7-91727090-C-T c.10589C>T p.P3530L Missense 42/50 - 4
7-91727092-C-G c.10591C>G p.Q3531E Missense 42/50 - 3
7-91727098-G-A c.10597G>A p.A3533T Missense 42/50 - 1
7-91727099-C-T c.10598C>T p.A3533V Missense 42/50 - 1
7-91727100-C-A c.10599C>A p.A3533= Synonymous 42/50 - 1
7-91727102-C-T c.10601C>T p.S3534F Missense 42/50 - 2
7-91727129-C-G c.10607+21C>G - IntronicSNV - 42/49 1
7-91727385-G-A c.10608-38G>A - IntronicSNV - 42/49 7
7-91727425-T-A c.10610T>A p.L3537Q Missense 43/50 - 1
7-91727442-G-A c.10627G>A p.D3543N Missense 43/50 - 1
7-91727442-G-C c.10627G>C p.D3543H Missense 43/50 - 1
7-91727443-A-G c.10628A>G p.D3543G Missense 43/50 - 1
7-91727445-G-A c.10630G>A p.D3544N Missense 43/50 - 2
7-91727450-A-C c.10635A>C p.E3545D Missense 43/50 - 1
7-91727451-G-C c.10636G>C p.D3546H Missense 43/50 - 1
7-91727453-T-C c.10638T>C p.D3546= Synonymous 43/50 - 1
7-91727454-T-C c.10639T>C p.F3547L Missense 43/50 - 1
7-91727456-C-A c.10641C>A p.F3547L Missense 43/50 - 1
7-91727456-C-G c.10641C>G p.F3547L Missense 43/50 - 1
7-91727474-T-C c.10659T>C p.N3553= Synonymous 43/50 - 1
7-91727479-A-T c.10664A>T p.D3555V Missense 43/50 - 10
7-91727481-G-A c.10666G>A p.E3556K Missense 43/50 - 1
7-91727484-A-G c.10669A>G p.I3557V Missense 43/50 - 1
7-91727486-T-C c.10671T>C p.I3557= Synonymous 43/50 - 1
7-91727487-A-G c.10672A>G p.I3558V Missense 43/50 - 3
7-91727489-T-C c.10674T>C p.I3558= Synonymous 43/50 - 2
7-91727508-A-C c.10693A>C p.T3565P Missense 43/50 - 2
7-91727512-G-C c.10697G>C p.G3566A Missense 43/50 - 1
7-91727517-C-G c.10702C>G p.Q3568E Missense 43/50 - 2
7-91727520-G-A c.10705G>A p.G3569S Missense 43/50 - 1
7-91727520-G-T c.10705G>T p.G3569C Missense 43/50 - 1
7-91727521-G-C c.10706G>C p.G3569A Missense 43/50 - 1
7-91727530-T-C c.10713+2T>C - IntronicSNV - 43/49 2
7-91728923-C-T c.10714-78C>T - IntronicSNV - 43/49 3
7-91729001-C-G c.10714C>G p.P3572A Missense 44/50 - 1
7-91729004-AG-CC c.10717_10718delinsCC p.S3573P Missense 44/50 - 1
7-91729006-C-T c.10719C>T p.S3573= Synonymous 44/50 - 1
7-91729012-G-A c.10725G>A p.V3575= Synonymous 44/50 - 1
7-91729012-G-C c.10725G>C p.V3575= Synonymous 44/50 - 1
7-91729012-G-T c.10725G>T p.V3575= Synonymous 44/50 - 1
7-91729014-C-A c.10727C>A p.S3576Y Missense 44/50 - 7
7-91729017-C-A c.10730C>A p.P3577Q Missense 44/50 - 1
7-91729017-C-T c.10730C>T p.P3577L Missense 44/50 - 1
7-91729023-C-A c.10736C>A p.T3579N Missense 44/50 - 1
7-91729026-C-A c.10739C>A p.S3580Y Missense 44/50 - 1
7-91729028-T-G c.10741T>G p.C3581G Missense 44/50 - 1
7-91729029-G-A c.10742G>A p.C3581Y Missense 44/50 - 1
7-91729035-C-A c.10748C>A p.S3583* Nonsense 44/50 - 1
7-91729035-CA-AT c.10748_10749delinsAT p.S3583Y Missense 44/50 - 1
7-91729035-C-T c.10748C>T p.S3583L Missense 44/50 - 1
7-91729036-A-C c.10749A>C p.S3583= Synonymous 44/50 - 1
7-91729036-A-G c.10749A>G p.S3583= Synonymous 44/50 - 1
7-91729036-A-T c.10749A>T p.S3583= Synonymous 44/50 - 1
7-91729039-G-C c.10752G>C p.L3584F Missense 44/50 - 1
7-91729039-G-T c.10752G>T p.L3584F Missense 44/50 - 1
7-91729041-C-T c.10754C>T p.T3585I Missense 44/50 - 1
7-91729042-T-A c.10755T>A p.T3585= Synonymous 44/50 - 1
7-91729043-G-A c.10756G>A p.E3586K Missense 44/50 - 3
7-91729046-AGA-CAT c.10759_10761delinsCAT p.R3587H Missense 44/50 - 1
7-91729054-G-A c.10767G>A p.L3589= Synonymous 44/50 - 1
7-91729056-G-C c.10769G>C p.R3590T Missense 44/50 - 1
7-91729061-A-C c.10774A>C p.N3592H Missense 44/50 - 1
7-91729067-TG-T c.10780del p.E3594Sfs*2 Frameshift 44/50 - 1
7-91729073-A-C c.10786A>C p.T3596P Missense 44/50 - 1
7-91729082-A-C c.10795A>C p.I3599L Missense 44/50 - 1
7-91729082-A-T c.10795A>T p.I3599F Missense 44/50 - 1
7-91729097-G-A c.10810G>A p.E3604K Missense 44/50 - 1
7-91729103-A-G c.10816A>G p.K3606E Missense 44/50 - 2
7-91729110-A-T c.10823A>T p.D3608V Missense 44/50 - 3
7-91729119-A-G c.10832A>G p.N3611S Missense 44/50 - 1
7-91729119-A-T c.10832A>T p.N3611I Missense 44/50 - 1
7-91729122-T-C c.10835T>C p.M3612T Missense 44/50 - 3
7-91729127-A-G c.10840A>G p.M3614V Missense 44/50 - 13
7-91729132-G-A c.10845G>A p.K3615= Synonymous 44/50 - 1
7-91729139-G-C c.10852G>C p.E3618Q Missense 44/50 - 1
7-91729145-A-G c.10858A>G p.I3620V Missense 44/50 - 3
7-91729152-G-A c.10865G>A p.W3622* Nonsense 44/50 - 1
7-91729154-T-C c.10867T>C p.Y3623H Missense 44/50 - 1
7-91729156-T-A c.10869T>A p.Y3623* Nonsense 44/50 - 3
7-91729156-T-G c.10869T>G p.Y3623* Nonsense 44/50 - 5
7-91729158-G-A c.10871G>A p.R3624Q Missense 44/50 - 1
7-91729167-G-A c.10880G>A p.G3627E Missense 44/50 - 1
7-91729169-G-C c.10882G>C p.A3628P Missense 44/50 - 1
7-91729176-G-A c.10889G>A p.R3630K Missense 44/50 - 1
7-91729176-G-C c.10889G>C p.R3630T Missense 44/50 - 1
7-91729178-G-C c.10891G>C p.D3631H Missense 44/50 - 2
7-91729180-T-G c.10893T>G p.D3631E Missense 44/50 - 1
7-91729183-T-G c.10896T>G p.N3632K Missense 44/50 - 1
7-91729190-C-T c.10896+7C>T - IntronicSNV - 44/49 1
7-91729191-C-T c.10896+8C>T - IntronicSNV - 44/49 1
7-91730173-T-G c.10900T>G p.S3634A Missense 45/50 - 1
7-91730175-C-T c.10902C>T p.S3634= Synonymous 45/50 - 1
7-91730176-A-G c.10903A>G p.R3635G Missense 45/50 - 1
7-91730192-G-C c.10919G>C p.G3640A Missense 45/50 - 2
7-91730213-T-C c.10940T>C p.I3647T Missense 45/50 - 1
7-91730214-C-G c.10941C>G p.I3647M Missense 45/50 - 1
7-91730219-CC-TT c.10946_10947delinsTT p.A3649V Missense 45/50 - 1
7-91730219-C-T c.10946C>T p.A3649V Missense 45/50 - 2
7-91730230-G-T c.10957G>T p.E3653* Nonsense 45/50 - 1
7-91730232-A-T c.10959A>T p.E3653D Missense 45/50 - 1
7-91730238-G-C c.10965G>C p.W3655C Missense 45/50 - 2
7-91730238-G-T c.10965G>T p.W3655C Missense 45/50 - 2
7-91730242-AG-CA c.10969_10970delinsCA p.R3657Q Missense 45/50 - 1
7-91730243-G-C c.10970G>C p.R3657T Missense 45/50 - 1
7-91730242-A-C c.10969A>C p.R3657= Synonymous 45/50 - 1
7-91730244-A-G c.10971A>G p.R3657= Synonymous 45/50 - 1
7-91730245-GAAAAATTGACTCTCC-G c.10974_10988del p.L3660_K3664del InFrameDeletion 45/50 - 1
7-91730250-A-C c.10977A>C p.K3659N Missense 45/50 - 1
7-91730253-G-C c.10980G>C p.L3660F Missense 45/50 - 1
7-91730260-C-T c.10987C>T p.Q3663* Nonsense 45/50 - 1
7-91730267-C-A c.10994C>A p.S3665Y Missense 45/50 - 1
7-91730267-C-T c.10994C>T p.S3665F Missense 45/50 - 1
7-91730273-A-C c.11000A>C p.K3667T Missense 45/50 - 2
7-91730275-A-G c.11002A>G p.R3668G Missense 45/50 - 3
7-91730277-G-C c.11004G>C p.R3668S Missense 45/50 - 1
7-91730277-G-T c.11004G>T p.R3668S Missense 45/50 - 1
7-91730279-C-T c.11006C>T p.A3669V Missense 45/50 - 1
7-91730281-G-A c.11008G>A p.E3670K Missense 45/50 - 1
7-91730282-A-C c.11009A>C p.E3670A Missense 45/50 - 1
7-91730285-C-T c.11012C>T p.A3671V Missense 45/50 - 4
7-91730287-G-T c.11014G>T p.E3672* Nonsense 45/50 - 1
7-91730290-G-A c.11017G>A p.V3673I Missense 45/50 - 1
7-91730296-A-G c.11023A>G p.K3675E Missense 45/50 - 2
7-91730315-G-A c.11042G>A p.R3681K Missense 45/50 - 1
7-91730320-G-C c.11047G>C p.D3683H Missense 45/50 - 1
7-91730329-C-A c.11056C>A p.L3686I Missense 45/50 - 1
7-91730331-TCAAA-T c.11060_11063del p.Q3687Lfs*2 Frameshift 45/50 - 1
7-91730333-A-G c.11060A>G p.Q3687R Missense 45/50 - 1
7-91730334-A-C c.11061A>C p.Q3687H Missense 45/50 - 1
7-91730334-A-T c.11061A>T p.Q3687H Missense 45/50 - 1
7-91730347-G-A c.11074G>A p.D3692N Missense 45/50 - 1
7-91730347-G-C c.11074G>C p.D3692H Missense 45/50 - 2
7-91730352-T-A c.11079T>A p.S3693= Synonymous 45/50 - 1
7-91730352-T-C c.11079T>C p.S3693= Synonymous 45/50 - 1
7-91730352-T-G c.11079T>G p.S3693= Synonymous 45/50 - 1
7-91730353-G-A c.11080G>A p.E3694K Missense 45/50 - 1
7-91730356-C-G c.11083C>G p.H3695D Missense 45/50 - 1
7-91730356-C-T c.11083C>T p.H3695Y Missense 45/50 - 2
7-91730357-A-AT c.11085dup p.V3696Cfs*9 Frameshift 45/50 - 1
7-91730363-C-G c.11090C>G p.T3697S Missense 45/50 - 1
7-91730363-C-T c.11090C>T p.T3697I Missense 45/50 - 3
7-91730366-T-A c.11093T>A p.L3698* Nonsense 45/50 - 1
7-91730366-T-C c.11093T>C p.L3698S Missense 45/50 - 1
7-91730366-T-G c.11093T>G p.L3698* Nonsense 45/50 - 1
7-91730591-A-T c.11097+221A>T - IntronicSNV - 45/49 2
7-91731135-C-G c.11097+765C>G - IntronicSNV - 45/49 1
7-91731921-A-G c.11111A>G p.K3704R Missense 46/50 - 2
7-91731944-C-T c.11134C>T p.R3712* Nonsense 46/50 - 12
7-91731945-G-A c.11135G>A p.R3712Q Missense 46/50 - 13
7-91731949-G-T c.11139G>T p.K3713N Missense 46/50 - 1
7-91731953-C-T c.11143C>T p.L3715F Missense 46/50 - 1
7-91731955-C-A c.11145C>A p.L3715= Synonymous 46/50 - 2
7-91731955-C-G c.11145C>G p.L3715= Synonymous 46/50 - 2
7-91731955-C-T c.11145C>T p.L3715= Synonymous 46/50 - 2
7-91731963-A-T c.11153A>T p.Q3718L Missense 46/50 - 2
7-91731964-G-A c.11154G>A p.Q3718= Synonymous 46/50 - 2
7-91731967-G-C c.11157G>C p.K3719N Missense 46/50 - 3
7-91731967-G-T c.11157G>T p.K3719N Missense 46/50 - 4
7-91731976-G-C c.11166G>C p.L3722= Synonymous 46/50 - 1
7-91731976-G-T c.11166G>T p.L3722= Synonymous 46/50 - 1
7-91731986-C-A c.11176C>A p.L3726M Missense 46/50 - 1
7-91731987-T-C c.11177T>C p.L3726P Missense 46/50 - 2
7-91731995-T-A c.11185T>A p.F3729I Missense 46/50 - 1
7-91731996-T-C c.11186T>C p.F3729S Missense 46/50 - 1
7-91731998-C-T c.11188C>T p.Q3730* Nonsense 46/50 - 1
7-91731999-A-G c.11189A>G p.Q3730R Missense 46/50 - 1
7-91732000-G-C c.11190G>C p.Q3730H Missense 46/50 - 1
7-91732000-G-T c.11190G>T p.Q3730H Missense 46/50 - 1
7-91732007-G-A c.11197G>A p.E3733K Missense 46/50 - 1
7-91732011-A-T c.11201A>T p.D3734V Missense 46/50 - 1
7-91732016-A-G c.11206A>G p.T3736A Missense 46/50 - 1
7-91732020-T-TG c.11212dup p.A3738Gfs*60 Frameshift 46/50 - 1
7-91732028-C-T c.11218C>T p.L3740F Missense 46/50 - 2
7-91732032-C-T c.11222C>T p.A3741V Missense 46/50 - 1
7-91732034-C-A c.11224C>A p.R3742= Synonymous 46/50 - 1
7-91732034-C-T c.11224C>T p.R3742W Missense 46/50 - 6
7-91732036-G-A c.11226G>A p.R3742= Synonymous 46/50 - 1
7-91732036-G-C c.11226G>C p.R3742= Synonymous 46/50 - 1
7-91732036-G-T c.11226G>T p.R3742= Synonymous 46/50 - 1
7-91732035-G-A c.11225G>A p.R3742Q Missense 46/50 - 1
7-91732035-G-C c.11225G>C p.R3742P Missense 46/50 - 4
7-91732035-G-T c.11225G>T p.R3742L Missense 46/50 - 1
7-91732039-G-A c.11229G>A p.M3743I Missense 46/50 - 10
7-91732039-G-C c.11229G>C p.M3743I Missense 46/50 - 6
7-91732039-G-T c.11229G>T p.M3743I Missense 46/50 - 10
7-91732040-G-A c.11230G>A p.G3744R Missense 46/50 - 1
7-91732040-G-C c.11230G>C p.G3744R Missense 46/50 - 1
7-91732040-G-T c.11230G>T p.G3744W Missense 46/50 - 3
7-91732041-G-A c.11231G>A p.G3744E Missense 46/50 - 1
7-91732041-G-C c.11231G>C p.G3744A Missense 46/50 - 4
7-91732044-G-A c.11234G>A p.G3745E Missense 46/50 - 4
7-91732044-G-C c.11234G>C p.G3745A Missense 46/50 - 3
7-91732044-G-T c.11234G>T p.G3745V Missense 46/50 - 1
7-91732038-TG-T c.11235del p.Q3746Sfs*7 Frameshift 46/50 - 5
7-91732038-T-TG c.11235dup p.Q3746Afs*52 Frameshift 46/50 - 8
7-91732045-G-A c.11235G>A p.G3745= Synonymous 46/50 - 2
7-91732045-G-C c.11235G>C p.G3745= Synonymous 46/50 - 3
7-91732045-G-T c.11235G>T p.G3745= Synonymous 46/50 - 1
7-91732046-C-T c.11236C>T p.Q3746* Nonsense 46/50 - 1
7-91732048-G-T c.11238G>T p.Q3746H Missense 46/50 - 1
7-91732053-C-CT c.11246dup p.T3750Hfs*48 Frameshift 46/50 - 1
7-91732053-CT-C c.11246del p.F3749Sfs*4 Frameshift 46/50 - 1
7-91732056-T-TC c.11247dup p.T3750Hfs*48 Frameshift 46/50 - 1
7-91732059-C-T c.11249C>T p.T3750M Missense 46/50 - 2
7-91732071-T-A c.11261T>A p.V3754E Missense 46/50 - 1
7-91732071-T-C c.11261T>C p.V3754A Missense 46/50 - 1
7-91732080-A-G c.11270A>G p.N3757S Missense 46/50 - 2
7-91732082-C-T c.11272C>T p.R3758C Missense 46/50 - 4
7-91732083-G-A c.11273G>A p.R3758H Missense 46/50 - 9
7-91732092-G-A c.11282G>A p.G3761D Missense 46/50 - 1
7-91732097-A-G c.11287A>G p.T3763A Missense 46/50 - 1
7-91732106-C-A c.11296C>A p.R3766= Synonymous 46/50 - 2
7-91732106-C-T c.11296C>T p.R3766W Missense 46/50 - 3
7-91732108-G-A c.11298G>A p.R3766= Synonymous 46/50 - 2
7-91732108-G-C c.11298G>C p.R3766= Synonymous 46/50 - 2
7-91732108-G-T c.11298G>T p.R3766= Synonymous 46/50 - 2
7-91732107-G-A c.11297G>A p.R3766Q Missense 46/50 - 2
7-91732110-C-T c.11300C>T p.S3767L Missense 46/50 - 22
7-91732111-G-A c.11301G>A p.S3767= Synonymous 46/50 - 1
7-91732113-C-T c.11303C>T p.A3768V Missense 46/50 - 2
7-91732118-AGA-TGG c.11308_11310delinsTGG p.R3770W Missense 46/50 - 1
7-91732133-A-G c.11323A>G p.I3775V Missense 46/50 - 1
7-91732133-A-T c.11323A>T p.I3775F Missense 46/50 - 1
7-91732135-T-G c.11325T>G p.I3775M Missense 46/50 - 1
7-91732137-C-T c.11327C>T p.S3776F Missense 46/50 - 2
7-91732280-C-CT c.11330+149dup - IntronicInsertion - 46/49 1
7-91733509-T-A c.11330+1369T>A - IntronicSNV - 46/49 1
7-91734993-A-T c.11332A>T p.M3778L Missense 47/50 - 1
7-91735008-CGA-TGT c.11347_11349delinsTGT p.R3783C Missense 47/50 - 1
7-91735008-C-T c.11347C>T p.R3783* Nonsense 47/50 - 4
7-91735009-G-A c.11348G>A p.R3783Q Missense 47/50 - 2
7-91735011-C-T c.11350C>T p.R3784W Missense 47/50 - 1
7-91735012-G-A c.11351G>A p.R3784Q Missense 47/50 - 1
7-91735015-G-A c.11354G>A p.W3785* Nonsense 47/50 - 1
7-91735016-G-A c.11355G>A p.W3785* Nonsense 47/50 - 1
7-91735017-C-T c.11356C>T p.H3786Y Missense 47/50 - 2
7-91735020-C-A c.11359C>A p.R3787= Synonymous 47/50 - 1
7-91735020-C-T c.11359C>T p.R3787* Nonsense 47/50 - 4
7-91735022-A-C c.11361A>C p.R3787= Synonymous 47/50 - 1
7-91735022-A-G c.11361A>G p.R3787= Synonymous 47/50 - 2
7-91735022-A-T c.11361A>T p.R3787= Synonymous 47/50 - 1
7-91735021-G-A c.11360G>A p.R3787Q Missense 47/50 - 3
7-91735023-G-A c.11362G>A p.V3788I Missense 47/50 - 1
7-91735035-GTT-G c.11376_11377del p.S3793Hfs*4 Frameshift 47/50 - 1
7-91735037-T-A c.11376T>A p.V3792= Synonymous 47/50 - 2
7-91735037-T-C c.11376T>C p.V3792= Synonymous 47/50 - 2
7-91735037-T-G c.11376T>G p.V3792= Synonymous 47/50 - 2
7-91735043-C-A c.11382C>A p.I3794= Synonymous 47/50 - 1
7-91735043-C-G c.11382C>G p.I3794M Missense 47/50 - 1
7-91735043-C-T c.11382C>T p.I3794= Synonymous 47/50 - 1
7-91735052-C-G c.11391C>G p.N3797K Missense 47/50 - 1
7-91735052-C-T c.11391C>T p.N3797= Synonymous 47/50 - 1
7-91735054-G-A c.11393G>A p.R3798K Missense 47/50 - 1
7-91735054-G-C c.11393G>C p.R3798T Missense 47/50 - 1
7-91735065-G-T c.11404G>T p.G3802* Nonsense 47/50 - 3
7-91735070-G-A c.11409G>A p.L3803= Synonymous 47/50 - 1
7-91735075-A-C c.11414A>C p.Q3805P Missense 47/50 - 1
7-91735107-T-A c.11416+30T>A - IntronicSNV - 47/49 1
7-91735299-A-G c.11416+222A>G - IntronicSNV - 47/49 2
7-91736078-A-C c.11417-529A>C - IntronicSNV - 47/49 1
7-91736464-T-G c.11417-143T>G - IntronicSNV - 47/49 1
7-91736608-T-A c.11418T>A p.G3806= Synonymous 48/50 - 1
7-91736613-A-G c.11423A>G p.E3808G Missense 48/50 - 2
7-91736614-A-C c.11424A>C p.E3808D Missense 48/50 - 1
7-91736614-A-T c.11424A>T p.E3808D Missense 48/50 - 3
7-91736616-A-C c.11426A>C p.K3809T Missense 48/50 - 1
7-91736616-A-G c.11426A>G p.K3809R Missense 48/50 - 1
7-91736622-A-G c.11432A>G p.D3811G Missense 48/50 - 1
7-91736623-C-T c.11433C>T p.D3811= Synonymous 48/50 - 1
7-91736631-A-T c.11441A>T p.Y3814F Missense 48/50 - 2
7-91736635-T-C c.11445T>C p.H3815= Synonymous 48/50 - 1
7-91736651-G-C c.11461G>C p.E3821Q Missense 48/50 - 2
7-91736660-G-C c.11470G>C p.G3824R Missense 48/50 - 1
7-91736663-G-A c.11473G>A p.E3825K Missense 48/50 - 2
7-91736671-A-T c.11481A>T p.R3827S Missense 48/50 - 1
7-91736673-A-T c.11483A>T p.H3828L Missense 48/50 - 1
7-91736674-T-A c.11484T>A p.H3828Q Missense 48/50 - 1
7-91736679-C-T c.11489C>T p.T3830M Missense 48/50 - 1
7-91736680-G-A c.11490G>A p.T3830= Synonymous 48/50 - 1
7-91736680-G-C c.11490G>C p.T3830= Synonymous 48/50 - 1
7-91736680-G-T c.11490G>T p.T3830= Synonymous 48/50 - 1
7-91736684-C-T c.11494C>T p.R3832C Missense 48/50 - 3
7-91736685-G-A c.11495G>A p.R3832H Missense 48/50 - 2
7-91736688-C-T c.11498C>T p.S3833L Missense 48/50 - 1
7-91736691-G-C c.11501G>C p.R3834T Missense 48/50 - 3
7-91736693-T-C c.11503T>C p.S3835P Missense 48/50 - 1
7-91736694-C-T c.11504C>T p.S3835L Missense 48/50 - 1
7-91736702-G-C c.11512G>C p.D3838H Missense 48/50 - 1
7-91736709-T-C c.11519T>C p.I3840T Missense 48/50 - 2
7-91736711-A-C c.11521A>C p.R3841= Synonymous 48/50 - 1
7-91736713-G-A c.11523G>A p.R3841= Synonymous 48/50 - 1
7-91736714-TC-AA c.11524_11525delinsAA p.S3842N Missense 48/50 - 1
7-91736718-C-T c.11528C>T p.P3843L Missense 48/50 - 2
7-91736720-T-A c.11530T>A p.L3844I Missense 48/50 - 1
7-91736723-C-A c.11533C>A p.P3845T Missense 48/50 - 1
7-91736724-C-T c.11534C>T p.P3845L Missense 48/50 - 2
7-91736731-G-C c.11541G>C p.Q3847H Missense 48/50 - 2
7-91736731-G-T c.11541G>T p.Q3847H Missense 48/50 - 1
7-91736794-T-A c.11546+58T>A - IntronicSNV - 48/49 8
7-91736794-T-C c.11546+58T>C - IntronicSNV - 48/49 6
7-91736794-T-G c.11546+58T>G - IntronicSNV - 48/49 6
7-91736874-A-G c.11546+138A>G - IntronicSNV - 48/49 2
7-91736921-C-A c.11546+185C>A - IntronicSNV - 48/49 1
7-91736921-C-G c.11546+185C>G - IntronicSNV - 48/49 1
7-91736921-C-T c.11546+185C>T - IntronicSNV - 48/49 3
7-91737809-T-G c.11548T>G p.Y3850D Missense 49/50 - 1
7-91737811-C-A c.11550C>A p.Y3850* Nonsense 49/50 - 1
7-91737811-C-G c.11550C>G p.Y3850* Nonsense 49/50 - 1
7-91737816-G-T c.11555G>T p.G3852V Missense 49/50 - 1
7-91737829-T-C c.11568T>C p.D3856= Synonymous 49/50 - 1
7-91737830-T-C c.11569T>C p.F3857L Missense 49/50 - 2
7-91737832-C-A c.11571C>A p.F3857L Missense 49/50 - 2
7-91737832-C-G c.11571C>G p.F3857L Missense 49/50 - 2
7-91737836-C-T c.11575C>T p.P3859S Missense 49/50 - 3
7-91737843-C-T c.11582C>T p.S3861F Missense 49/50 - 1
7-91737849-C-A c.11588C>A p.A3863E Missense 49/50 - 1
7-91737850-A-AT c.11590dup p.C3864Lfs*10 Frameshift 49/50 - 1
7-91737855-C-T c.11594C>T p.S3865F Missense 49/50 - 1
7-91737871-C-G c.11610C>G p.Y3870* Nonsense 49/50 - 2
7-91737871-C-T c.11610C>T p.Y3870= Synonymous 49/50 - 3
7-91737872-G-A c.11611G>A p.D3871N Missense 49/50 - 2
7-91737878-G-A c.11617G>A p.D3873N Missense 49/50 - 4
7-91737880-C-T c.11619C>T p.D3873= Synonymous 49/50 - 1
7-91737884-G-A c.11623G>A p.A3875T Missense 49/50 - 1
7-91737897-A-G c.11636A>G p.Y3879C Missense 49/50 - 1
7-91737898-T-C c.11637T>C p.Y3879= Synonymous 49/50 - 1
7-91737903-C-T c.11642C>T p.T3881I Missense 49/50 - 1
7-91737904-T-A c.11643T>A p.T3881= Synonymous 49/50 - 1
7-91737904-T-G c.11643T>G p.T3881= Synonymous 49/50 - 1
7-91737906-G-A c.11645G>A p.R3882Q Missense 49/50 - 1
7-91737919-G-A c.11658G>A p.L3886= Synonymous 49/50 - 1
7-91737919-GCAAAGA-G c.11660_11665del p.Q3887_R3888del InFrameDeletion 49/50 - 1
7-91737921-A-C c.11660A>C p.Q3887P Missense 49/50 - 1
7-91737926-C-T c.11665C>T p.R3889* Nonsense 49/50 - 1
7-91737927-G-T c.11666G>T p.R3889L Missense 49/50 - 1
7-91737930-CTTGGAA-C c.11669_11674del p.L3890_T3892delinsP MultiAAMissense 49/50 - 1
7-91737943-G-C c.11682G>C p.Q3894H Missense 49/50 - 2
7-91737943-G-T c.11682G>T p.Q3894H Missense 49/50 - 3
7-91737945-C-T c.11684C>T p.S3895L Missense 49/50 - 1
7-91737998-G-A c.11686+51G>A - IntronicSNV - 49/49 1
7-91738004-C-CT c.11686+60dup - IntronicInsertion - 49/49 1
7-91738060-A-C c.11686+113A>C - IntronicSNV - 49/49 1
7-91738788-C-G c.11687-648C>G - IntronicSNV - 49/49 6
7-91739444-A-G c.11695A>G p.T3899A Missense 50/50 - 1
7-91739445-C-T c.11696C>T p.T3899I Missense 50/50 - 3
7-91739456-G-A c.11707G>A p.A3903T Missense 50/50 - 3
7-91739460-G-C c.11711G>C p.G3904A Missense 50/50 - 1
7-91739463-T-C c.11714T>C p.M3905T Missense 50/50 - 8
7-91739464-G-A c.11715G>A p.M3905I Missense 50/50 - 1
7-91739464-G-C c.11715G>C p.M3905I Missense 50/50 - 1
7-91739464-G-T c.11715G>T p.M3905I Missense 50/50 - 1
7-91739469-G-A c.11720G>A p.R3907K Missense 50/50 - 2