PCSK9

PCSK9 proprotein convertase subtilisin/kexin type 9

Annotation transcript: NM_174936.4

1746 unique variant annotations were identified in 1564 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
1-55505224-G-A c.-287G>A - 5-UTRSNV 1/12 - 2
1-55505224-G-T c.-287G>T - 5-UTRSNV 1/12 - 2
1-55505447-C-T c.-64C>T - 5-UTRSNV 1/12 - 10
1-55505485-G-A c.-26G>A - 5-UTRSNV 1/12 - 2
1-55505513-G-T c.3G>T p.M1? Missense 1/12 - 1
1-55505515-G-A c.5G>A p.G2D Missense 1/12 - 1
1-55505520-G-A c.10G>A p.V4I Missense 1/12 - 14
1-55505520-G-T c.10G>T p.V4F Missense 1/12 - 1
1-55505524-G-T c.14G>T p.S5I Missense 1/12 - 1
1-55505532-C-T c.22C>T p.R8W Missense 1/12 - 1
1-55505539-G-A c.29G>A p.W10* Nonsense 1/12 - 2
1-55505540-G-A c.30G>A p.W10* Nonsense 1/12 - 2
1-55505544-CCG-TTT c.34_36delinsTTT p.P12F Missense 1/12 - 1
1-55505544-C-G c.34C>G p.P12A Missense 1/12 - 7
1-55505545-C-T c.35C>T p.P12L Missense 1/12 - 1
1-55505546-G-A c.36G>A p.P12= Synonymous 1/12 - 1
1-55505546-G-C c.36G>C p.P12= Synonymous 1/12 - 1
1-55505546-G-T c.36G>T p.P12= Synonymous 1/12 - 1
1-55505547-CT-GC c.37_38delinsGC p.L13A Missense 1/12 - 3
1-55505545-CGCT-C c.38_40del p.L13del InFrameDeletion 1/12 - 1
1-55505552-A-AATGCTG c.42_43insATGCTG p.P14_L15insML InFrameInsertion 1/12 - 2
1-55505552-A-ATG c.42_43insTG p.L15Cfs*30 Frameshift 1/12 - 4
1-55505553-C-CCTG c.43_44insCTG p.L15delinsPV MultiAAMissense 1/12 - 7
1-55505553-CTG-ATC c.43_45delinsATC p.L15I Missense 1/12 - 1
1-55505552-A-ACTT c.44_45insTCT p.L23dup InFrameInsertion 1/12 - 3
1-55505556-C-G c.46C>G p.L16V Missense 1/12 - 1
1-55505555-G-GCTT c.47_48insTCT p.L23dup InFrameInsertion 1/12 - 1
1-55505557-T-C c.47T>C p.L16P Missense 1/12 - 4
1-55505559-C-T c.49C>T p.L17= Synonymous 1/12 - 1
1-55505563-T-G c.53T>G p.L18R Missense 1/12 - 1
1-55505565-CT-TA c.55_56delinsTA p.L19* Nonsense 1/12 - 1
1-55505552-ACTGCTGCTG-A c.57_65del p.L21_L23del InFrameDeletion 1/12 - 1
1-55505552-ACTGCTG-A c.60_65del p.L22_L23del InFrameDeletion 1/12 - 1
1-55505571-C-CCTG c.61_62insCTG p.L21delinsPV MultiAAMissense 1/12 - 2
1-55505571-CT-AC c.61_62delinsAC p.L21T Missense 1/12 - 1
1-55505571-CTG-TGT c.61_63delinsTGT p.L21C Missense 1/12 - 1
1-55505552-ACTG-A c.63_65del p.L23del InFrameDeletion 1/12 - 5
1-55505575-T-TG c.65_66insG p.L23Pfs*148 Frameshift 1/12 - 1
1-55505576-C-T c.66C>T p.L22= Synonymous 1/12 - 3
1-55505577-C-T c.67C>T p.L23= Synonymous 1/12 - 3
1-55505579-G-C c.69G>C p.L23= Synonymous 1/12 - 1
1-55505579-G-GCTT c.69_70insCTT p.L23dup InFrameInsertion 1/12 - 8
1-55505579-G-GCTTCTT c.69_70insCTTCTT p.L22_L23dup InFrameInsertion 1/12 - 1
1-55505579-G-GCTTCTTCTT c.69_70insCTTCTTCTT p.L21_L23dup InFrameInsertion 1/12 - 1
1-55505580-G-A c.70G>A p.G24S Missense 1/12 - 1
1-55505580-G-C c.70G>C p.G24R Missense 1/12 - 1
1-55505581-G-C c.71G>C p.G24A Missense 1/12 - 2
1-55505583-C-T c.73C>T p.P25S Missense 1/12 - 1
1-55505584-C-T c.74C>T p.P25L Missense 1/12 - 1
1-55505585-C-T c.75C>T p.P25= Synonymous 1/12 - 3
1-55505586-G-A c.76G>A p.A26T Missense 1/12 - 1
1-55505590-G-C c.80G>C p.G27A Missense 1/12 - 1
1-55505592-G-A c.82G>A p.A28T Missense 1/12 - 3
1-55505592-GCC-ATG c.82_84delinsATG p.A28M Missense 1/12 - 1
1-55505592-GC-TT c.82_83delinsTT p.A28F Missense 1/12 - 1
1-55505592-G-T c.82G>T p.A28S Missense 1/12 - 1
1-55505593-C-G c.83C>G p.A28G Missense 1/12 - 2
1-55505593-C-T c.83C>T p.A28V Missense 1/12 - 1
1-55505592-GC-G c.85del p.R29Vfs*15 Frameshift 1/12 - 1
1-55505595-C-A c.85C>A p.R29S Missense 1/12 - 1
1-55505595-C-G c.85C>G p.R29G Missense 1/12 - 1
1-55505595-C-T c.85C>T p.R29C Missense 1/12 - 2
1-55505596-G-A c.86G>A p.R29H Missense 1/12 - 1
1-55505598-G-A c.88G>A p.A30T Missense 1/12 - 1
1-55505598-GCG-TTT c.88_90delinsTTT p.A30F Missense 1/12 - 1
1-55505599-C-T c.89C>T p.A30V Missense 1/12 - 1
1-55505600-G-A c.90G>A p.A30= Synonymous 1/12 - 1
1-55505601-CAG-AAC c.91_93delinsAAC p.Q31N Missense 1/12 - 1
1-55505601-C-G c.91C>G p.Q31E Missense 1/12 - 1
1-55505601-C-T c.91C>T p.Q31* Nonsense 1/12 - 1
1-55505602-A-C c.92A>C p.Q31P Missense 1/12 - 1
1-55505604-G-A c.94G>A p.E32K Missense 1/12 - 49
1-55505606-G-A c.96G>A p.E32= Synonymous 1/12 - 1
1-55505610-G-A c.100G>A p.E34K Missense 1/12 - 3
1-55505613-G-A c.103G>A p.D35N Missense 1/12 - 1
1-55505613-GA-TG c.103_104delinsTG p.D35C Missense 1/12 - 1
1-55505613-G-T c.103G>T p.D35Y Missense 1/12 - 11
1-55505614-A-C c.104A>C p.D35A Missense 1/12 - 1
1-55505616-G-A c.106G>A p.G36S Missense 1/12 - 1
1-55505619-G-T c.109G>T p.D37Y Missense 1/12 - 1
1-55505620-A-G c.110A>G p.D37G Missense 1/12 - 1
1-55505621-C-T c.111C>T p.D37= Synonymous 1/12 - 1
1-55505622-TAC-AAG c.112_114delinsAAG p.Y38K Missense 1/12 - 1
1-55505622-TA-CG c.112_113delinsCG p.Y38R Missense 1/12 - 1
1-55505622-TAC-GAG c.112_114delinsGAG p.Y38E Missense 1/12 - 1
1-55505622-TA-CT c.112_113delinsCT p.Y38L Missense 1/12 - 1
1-55505622-TA-GC c.112_113delinsGC p.Y38A Missense 1/12 - 1
1-55505622-T-C c.112T>C p.Y38H Missense 1/12 - 1
1-55505623-A-T c.113A>T p.Y38F Missense 1/12 - 1
1-55505624-C-A c.114C>A p.Y38* Nonsense 1/12 - 1
1-55505624-C-G c.114C>G p.Y38* Nonsense 1/12 - 1
1-55505625-G-A c.115G>A p.E39K Missense 1/12 - 2
1-55505625-G-C c.115G>C p.E39Q Missense 1/12 - 1
1-55505628-G-A c.118G>A p.E40K Missense 1/12 - 3
1-55505628-GA-CT c.118_119delinsCT p.E40L Missense 1/12 - 1
1-55505629-A-T c.119A>T p.E40V Missense 1/12 - 1
1-55505632-T-A c.122T>A p.L41Q Missense 1/12 - 2
1-55505632-T-C c.122T>C p.L41P Missense 1/12 - 1
1-55505634-G-T c.124G>T p.V42L Missense 1/12 - 1
1-55505634-GTG-ATC c.124_126delinsATC p.V42I Missense 1/12 - 1
1-55505635-T-C c.125T>C p.V42A Missense 1/12 - 1
1-55505636-G-T c.126G>T p.V42= Synonymous 1/12 - 1
1-55505640-G-A c.130G>A p.A44T Missense 1/12 - 1
1-55505640-G-C c.130G>C p.A44P Missense 1/12 - 2
1-55505642-C-A c.132C>A p.A44= Synonymous 1/12 - 1
1-55505642-C-G c.132C>G p.A44= Synonymous 1/12 - 1
1-55505642-C-T c.132C>T p.A44= Synonymous 1/12 - 1
1-55505646-C-T c.136C>T p.R46C Missense 1/12 - 2
1-55505647-G-A c.137G>A p.R46H Missense 1/12 - 103
1-55505647-G-T c.137G>T p.R46L Missense 1/12 - 305
1-55505649-T-A c.139T>A p.S47T Missense 1/12 - 2
1-55505649-TC-GA c.139_140inv p.S47D Missense 1/12 - 1
1-55505649-T-G c.139T>G p.S47A Missense 1/12 - 1
1-55505650-C-G c.140C>G p.S47C Missense 1/12 - 2
1-55505650-C-T c.140C>T p.S47F Missense 1/12 - 1
1-55505651-C-A c.141C>A p.S47= Synonymous 1/12 - 1
1-55505651-C-G c.141C>G p.S47= Synonymous 1/12 - 1
1-55505651-C-T c.141C>T p.S47= Synonymous 1/12 - 7
1-55505652-CG-C c.142del p.E48Rfs*35 Frameshift 1/12 - 1
1-55505652-G-A c.142G>A p.E48K Missense 1/12 - 3
1-55505652-GAG-TGT c.142_144delinsTGT p.E48C Missense 1/12 - 1
1-55505657-G-A c.147G>A p.E49= Synonymous 1/12 - 1
1-55505659-A-G c.149A>G p.D50G Missense 1/12 - 1
1-55505661-G-C c.151G>C p.G51R Missense 1/12 - 1
1-55505663-C-T c.153C>T p.G51= Synonymous 1/12 - 1
1-55505665-TG-AT c.155_156delinsAT p.L52H Missense 1/12 - 1
1-55505667-G-A c.157G>A p.A53T Missense 1/12 - 1
1-55505667-GC-CG c.157_158delinsCG p.A53R Missense 1/12 - 1
1-55505668-C-G c.158C>G p.A53G Missense 1/12 - 35
1-55505668-C-T c.158C>T p.A53V Missense 1/12 - 75
1-55505669-C-A c.159C>A p.A53= Synonymous 1/12 - 2
1-55505669-C-G c.159C>G p.A53= Synonymous 1/12 - 2
1-55505669-C-T c.159C>T p.A53= Synonymous 1/12 - 2
1-55505671-A-C c.161A>C p.E54A Missense 1/12 - 3
1-55505673-G-A c.163G>A p.A55T Missense 1/12 - 1
1-55505675-A-C c.165A>C p.A55= Synonymous 1/12 - 1
1-55505675-A-G c.165A>G p.A55= Synonymous 1/12 - 1
1-55505675-A-T c.165A>T p.A55= Synonymous 1/12 - 1
1-55505677-C-A c.167C>A p.P56H Missense 1/12 - 1
1-55505678-C-G c.168C>G p.P56= Synonymous 1/12 - 2
1-55505678-C-T c.168C>T p.P56= Synonymous 1/12 - 1
1-55505679-G-A c.169G>A p.E57K Missense 1/12 - 11
1-55505679-G-T c.169G>T p.E57* Nonsense 1/12 - 1
1-55505681-G-T c.171G>T p.E57D Missense 1/12 - 1
1-55505682-C-A c.172C>A p.H58N Missense 1/12 - 1
1-55505682-C-T c.172C>T p.H58Y Missense 1/12 - 1
1-55505685-G-A c.175G>A p.G59R Missense 1/12 - 1
1-55505685-G-C c.175G>C p.G59R Missense 1/12 - 2
1-55505687-A-G c.177A>G p.G59= Synonymous 1/12 - 1
1-55505695-C-A c.185C>A p.A62D Missense 1/12 - 1
1-55505697-AC-A c.189del p.F64Sfs*19 Frameshift 1/12 - 1
1-55505701-T-C c.191T>C p.F64S Missense 1/12 - 1
1-55505702-C-T c.192C>T p.F64= Synonymous 1/12 - 1
1-55505705-CCG-C c.197_198del p.R66Lfs*104 Frameshift 1/12 - 1
1-55505707-G-A c.197G>A p.R66H Missense 1/12 - 1
1-55505709-T-C c.199T>C p.C67R Missense 1/12 - 1
1-55505709-TG-GC c.199_200delinsGC p.C67A Missense 1/12 - 1
1-55505710-G-A c.200G>A p.C67Y Missense 1/12 - 1
1-55505711-C-A c.201C>A p.C67* Nonsense 1/12 - 1
1-55505712-CG-C c.202del p.A68Pfs*15 Frameshift 1/12 - 6
1-55505713-C-A c.203C>A p.A68D Missense 1/12 - 1
1-55505713-CC-AG c.203_204delinsAG p.A68E Missense 1/12 - 1
1-55505718-G-A c.207+1G>A - IntronicSNV - 1/11 2
1-55505719-T-C c.207+2T>C - IntronicSNV - 1/11 1
1-55505722-G-A c.207+5G>A - IntronicSNV - 1/11 1
1-55505732-A-G c.207+15A>G - IntronicSNV - 1/11 16
1-55505742-G-A c.207+25G>A - IntronicSNV - 1/11 2
1-55505742-G-T c.207+25G>T - IntronicSNV - 1/11 1
1-55505804-T-A c.207+87T>A - IntronicSNV - 1/11 3
1-55505811-G-A c.207+94G>A - IntronicSNV - 1/11 1
1-55505834-G-A c.207+117G>A - IntronicSNV - 1/11 1
1-55505861-G-A c.207+144G>A - IntronicSNV - 1/11 8
1-55505892-G-A c.207+175G>A - IntronicSNV - 1/11 1
1-55505896-G-A c.207+179G>A - IntronicSNV - 1/11 1
1-55505908-G-A c.207+191G>A - IntronicSNV - 1/11 1
1-55505926-C-T c.207+209C>T - IntronicSNV - 1/11 4
1-55506103-C-G c.207+386C>G - IntronicSNV - 1/11 1
1-55506355-G-C c.207+638G>C - IntronicSNV - 1/11 1
1-55506834-G-A c.207+1117G>A - IntronicSNV - 1/11 1
1-55506833-CG-C c.207+1122del - IntronicDeletion - 1/11 1
1-55507285-T-C c.207+1568T>C - IntronicSNV - 1/11 1
1-55507314-G-A c.207+1597G>A - IntronicSNV - 1/11 1
1-55507356-A-C c.207+1639A>C - IntronicSNV - 1/11 1
1-55507649-C-T c.208-1867C>T - IntronicSNV - 1/11 3
1-55507882-C-A c.208-1634C>A - IntronicSNV - 1/11 1
1-55507882-C-T c.208-1634C>T - IntronicSNV - 1/11 1
1-55507956-G-A c.208-1560G>A - IntronicSNV - 1/11 1
1-55508186-T-A c.208-1330T>A - IntronicSNV - 1/11 2
1-55509213-G-A c.208-303G>A - IntronicSNV - 1/11 10
1-55509213-G-C c.208-303G>C - IntronicSNV - 1/11 10
1-55509355-C-T c.208-161C>T - IntronicSNV - 1/11 4
1-55509468-T-C c.208-48T>C - IntronicSNV - 1/11 1
1-55509492-A-G c.208-24A>G - IntronicSNV - 1/11 1
1-55509516-G-A c.208G>A p.D70N Missense 2/12 - 2
1-55509516-GA-CC c.208_209delinsCC p.D70P Missense 2/12 - 1
1-55509518-T-G c.210T>G p.D70E Missense 2/12 - 1
1-55509519-C-T c.211C>T p.P71S Missense 2/12 - 3
1-55509520-C-A c.212C>A p.P71Q Missense 2/12 - 1
1-55509520-C-T c.212C>T p.P71L Missense 2/12 - 6
1-55509521-G-A c.213G>A p.P71= Synonymous 2/12 - 1
1-55509522-T-G c.214T>G p.W72G Missense 2/12 - 1
1-55509523-G-A c.215G>A p.W72* Nonsense 2/12 - 1
1-55509524-G-A c.216G>A p.W72* Nonsense 2/12 - 1
1-55509525-AG-CA c.217_218delinsCA p.R73Q Missense 2/12 - 1
1-55509526-G-T c.218G>T p.R73M Missense 2/12 - 2
1-55509527-G-A c.219G>A p.R73= Synonymous 2/12 - 1
1-55509527-G-T c.219G>T p.R73S Missense 2/12 - 1
1-55509529-T-G c.221T>G p.L74W Missense 2/12 - 1
1-55509531-C-T c.223C>T p.P75S Missense 2/12 - 1
1-55509533-T-C c.225T>C p.P75= Synonymous 2/12 - 2
1-55509536-C-T c.228C>T p.G76= Synonymous 2/12 - 1
1-55509538-C-T c.230C>T p.T77I Missense 2/12 - 3
1-55509540-TA-GC c.232_233delinsGC p.Y78A Missense 2/12 - 1
1-55509542-C-T c.234C>T p.Y78= Synonymous 2/12 - 1
1-55509543-G-A c.235G>A p.V79M Missense 2/12 - 4
1-55509543-G-C c.235G>C p.V79L Missense 2/12 - 1
1-55509543-G-T c.235G>T p.V79L Missense 2/12 - 1
1-55509544-T-C c.236T>C p.V79A Missense 2/12 - 1
1-55509547-T-C c.239T>C p.V80A Missense 2/12 - 2
1-55509549-G-A c.241G>A p.V81M Missense 2/12 - 1
1-55509550-GT-G c.242del p.V81Gfs*2 Frameshift 2/12 - 1
1-55509550-T-C c.242T>C p.V81A Missense 2/12 - 1
1-55509552-CT-GC c.244_245delinsGC p.L82A Missense 2/12 - 1
1-55509552-CT-TA c.244_245delinsTA p.L82* Nonsense 2/12 - 4
1-55509556-A-C c.248A>C p.K83T Missense 2/12 - 2
1-55509558-G-A c.250G>A p.E84K Missense 2/12 - 8
1-55509558-G-T c.250G>T p.E84* Nonsense 2/12 - 1
1-55509559-A-G c.251A>G p.E84G Missense 2/12 - 1
1-55509560-G-A c.252G>A p.E84= Synonymous 2/12 - 1
1-55509561-G-A c.253G>A p.E85K Missense 2/12 - 4
1-55509561-G-T c.253G>T p.E85* Nonsense 2/12 - 1
1-55509567-C-A c.259C>A p.H87N Missense 2/12 - 1
1-55509568-A-G c.260A>G p.H87R Missense 2/12 - 1
1-55509569-C-A c.261C>A p.H87Q Missense 2/12 - 1
1-55509571-T-A c.263T>A p.L88H Missense 2/12 - 1
1-55509571-T-G c.263T>G p.L88R Missense 2/12 - 1
1-55509572-C-A c.264C>A p.L88= Synonymous 2/12 - 1
1-55509572-C-G c.264C>G p.L88= Synonymous 2/12 - 1
1-55509572-C-T c.264C>T p.L88= Synonymous 2/12 - 1
1-55509574-C-G c.266C>G p.S89W Missense 2/12 - 3
1-55509574-C-T c.266C>T p.S89L Missense 2/12 - 1
1-55509575-G-A c.267G>A p.S89= Synonymous 2/12 - 3
1-55509575-G-C c.267G>C p.S89= Synonymous 2/12 - 1
1-55509575-G-T c.267G>T p.S89= Synonymous 2/12 - 1
1-55509576-C-T c.268C>T p.Q90* Nonsense 2/12 - 2
1-55509579-T-A c.271T>A p.S91T Missense 2/12 - 6
1-55509580-CA-TT c.272_273delinsTT p.S91F Missense 2/12 - 1
1-55509580-C-T c.272C>T p.S91L Missense 2/12 - 7
1-55509582-G-A c.274G>A p.E92K Missense 2/12 - 1
1-55509582-G-T c.274G>T p.E92* Nonsense 2/12 - 1
1-55509585-CG-GC c.277_278delinsGC p.R93A Missense 2/12 - 2
1-55509585-C-T c.277C>T p.R93C Missense 2/12 - 35
1-55509586-G-A c.278G>A p.R93H Missense 2/12 - 5
1-55509588-AC-CA c.280_281delinsCA p.T94H Missense 2/12 - 1
1-55509588-A-G c.280A>G p.T94A Missense 2/12 - 1
1-55509589-C-T c.281C>T p.T94I Missense 2/12 - 1
1-55509591-G-A c.283G>A p.A95T Missense 2/12 - 1
1-55509591-GC-TG c.283_284delinsTG p.A95C Missense 2/12 - 1
1-55509591-G-T c.283G>T p.A95S Missense 2/12 - 2
1-55509592-CC-AG c.284_285delinsAG p.A95E Missense 2/12 - 1
1-55509593-C-A c.285C>A p.A95= Synonymous 2/12 - 1
1-55509594-C-T c.286C>T p.R96C Missense 2/12 - 18
1-55509595-G-A c.287G>A p.R96H Missense 2/12 - 5
1-55509595-G-T c.287G>T p.R96L Missense 2/12 - 4
1-55509597-C-G c.289C>G p.R97G Missense 2/12 - 1
1-55509597-C-T c.289C>T p.R97C Missense 2/12 - 1
1-55509592-CCCG-C c.290_292del p.R97del InFrameDeletion 2/12 - 5
1-55509598-G-A c.290G>A p.R97H Missense 2/12 - 6
1-55509601-TG-AT c.293_294delinsAT p.L98H Missense 2/12 - 1
1-55509606-G-A c.298G>A p.A100T Missense 2/12 - 1
1-55509610-A-T c.302A>T p.Q101L Missense 2/12 - 1
1-55509612-G-A c.304G>A p.A102T Missense 2/12 - 1
1-55509613-C-A c.305C>A p.A102D Missense 2/12 - 1
1-55509613-C-T c.305C>T p.A102V Missense 2/12 - 5
1-55509615-G-T c.307G>T p.A103S Missense 2/12 - 1
1-55509616-C-A c.308C>A p.A103D Missense 2/12 - 1
1-55509616-C-T c.308C>T p.A103V Missense 2/12 - 2
1-55509618-C-A c.310C>A p.R104S Missense 2/12 - 1
1-55509618-C-T c.310C>T p.R104C Missense 2/12 - 16
1-55509619-G-A c.311G>A p.R104H Missense 2/12 - 4
1-55509619-G-T c.311G>T p.R104L Missense 2/12 - 1
1-55509621-CG-GC c.313_314delinsGC p.R105A Missense 2/12 - 1
1-55509621-C-T c.313C>T p.R105W Missense 2/12 - 3
1-55509622-G-A c.314G>A p.R105Q Missense 2/12 - 6
1-55509624-G-A c.316G>A p.G106R Missense 2/12 - 16
1-55509624-G-C c.316G>C p.G106R Missense 2/12 - 15
1-55509625-G-A c.317G>A p.G106E Missense 2/12 - 1
1-55509625-G-T c.317G>T p.G106V Missense 2/12 - 2
1-55509627-T-C c.319T>C p.Y107H Missense 2/12 - 1
1-55509628-A-G c.320A>G p.Y107C Missense 2/12 - 1
1-55509629-C-A c.321C>A p.Y107* Nonsense 2/12 - 1
1-55509629-C-G c.321C>G p.Y107* Nonsense 2/12 - 1
1-55509631-T-C c.323T>C p.L108P Missense 2/12 - 2
1-55509631-T-G c.323T>G p.L108R Missense 2/12 - 17
1-55509633-A-G c.325A>G p.T109A Missense 2/12 - 1
1-55509636-A-C c.328A>C p.K110Q Missense 2/12 - 1
1-55509642-C-T c.334C>T p.L112= Synonymous 2/12 - 1
1-55509644-G-A c.336G>A p.L112= Synonymous 2/12 - 2
1-55509644-G-C c.336G>C p.L112= Synonymous 2/12 - 1
1-55509644-G-T c.336G>T p.L112= Synonymous 2/12 - 1
1-55509646-A-T c.338A>T p.H113L Missense 2/12 - 1
1-55509647-T-A c.339T>A p.H113Q Missense 2/12 - 1
1-55509647-T-G c.339T>G p.H113Q Missense 2/12 - 1
1-55509648-G-A c.340G>A p.V114I Missense 2/12 - 1
1-55509648-GTC-ATG c.340_342delinsATG p.V114M Missense 2/12 - 1
1-55509649-T-C c.341T>C p.V114A Missense 2/12 - 8
1-55509656-T-C c.348T>C p.H116= Synonymous 2/12 - 1
1-55509657-G-A c.349G>A p.G117S Missense 2/12 - 1
1-55509657-G-C c.349G>C p.G117R Missense 2/12 - 5
1-55509658-G-A c.350G>A p.G117D Missense 2/12 - 1
1-55509660-C-T c.352C>T p.L118F Missense 2/12 - 1
1-55509663-C-A c.355C>A p.L119I Missense 2/12 - 1
1-55509664-T-C c.356T>C p.L119P Missense 2/12 - 2
1-55509666-C-T c.358C>T p.P120S Missense 2/12 - 3
1-55509668-T-C c.360T>C p.P120= Synonymous 2/12 - 2
1-55509669-G-A c.361G>A p.G121S Missense 2/12 - 1
1-55509675-C-T c.367C>T p.L123= Synonymous 2/12 - 1
1-55509676-T-A c.368T>A p.L123Q Missense 2/12 - 1
1-55509682-A-G c.374A>G p.K125R Missense 2/12 - 1
1-55509682-A-T c.374A>T p.K125M Missense 2/12 - 1
1-55509684-AT-GC c.376_377delinsGC p.M126A Missense 2/12 - 1
1-55509685-T-A c.377T>A p.M126K Missense 2/12 - 3
1-55509686-G-A c.378G>A p.M126I Missense 2/12 - 2
1-55509686-G-C c.378G>C p.M126I Missense 2/12 - 2
1-55509686-G-T c.378G>T p.M126I Missense 2/12 - 1
1-55509687-AG-CC c.379_380delinsCC p.S127P Missense 2/12 - 1
1-55509687-AG-CT c.379_380inv p.S127L Missense 2/12 - 1
1-55509687-AG-GC c.379_380delinsGC p.S127A Missense 2/12 - 1
1-55509687-AG-TT c.379_380delinsTT p.S127F Missense 2/12 - 1
1-55509688-G-A c.380G>A p.S127N Missense 2/12 - 1
1-55509688-GT-AG c.380_381delinsAG p.S127K Missense 2/12 - 1
1-55509687-A-C c.379A>C p.S127R Missense 2/12 - 36
1-55509689-T-A c.381T>A p.S127R Missense 2/12 - 83
1-55509689-T-G c.381T>G p.S127R Missense 2/12 - 36
1-55509690-G-A c.382G>A p.G128S Missense 2/12 - 2
1-55509692-C-A c.384C>A p.G128= Synonymous 2/12 - 1
1-55509692-C-G c.384C>G p.G128= Synonymous 2/12 - 1
1-55509692-C-T c.384C>T p.G128= Synonymous 2/12 - 2
1-55509693-G-A c.385G>A p.D129N Missense 2/12 - 11
1-55509694-A-G c.386A>G p.D129G Missense 2/12 - 19
1-55509702-G-C c.394G>C p.E132Q Missense 2/12 - 1
1-55509709-T-C c.399+2T>C - IntronicSNV - 2/11 1
1-55509711-A-G c.399+4A>G - IntronicSNV - 2/11 1
1-55509712-G-C c.399+5G>C - IntronicSNV - 2/11 1
1-55509725-G-T c.399+18G>T - IntronicSNV - 2/11 1
1-55509759-A-G c.399+52A>G - IntronicSNV - 2/11 1
1-55509771-G-A c.399+64G>A - IntronicSNV - 2/11 1
1-55509844-C-T c.399+137C>T - IntronicSNV - 2/11 1
1-55509872-T-C c.399+165T>C - IntronicSNV - 2/11 9
1-55509898-C-T c.399+191C>T - IntronicSNV - 2/11 1
1-55509900-C-T c.399+193C>T - IntronicSNV - 2/11 3
1-55509905-G-T c.399+198G>T - IntronicSNV - 2/11 1
1-55509919-C-T c.399+212C>T - IntronicSNV - 2/11 1
1-55509939-T-C c.399+232T>C - IntronicSNV - 2/11 1
1-55510015-C-T c.399+308C>T - IntronicSNV - 2/11 2
1-55510267-TA-T c.399+567del - IntronicDeletion - 2/11 1
1-55510971-T-C c.400-1225T>C - IntronicSNV - 2/11 1
1-55511471-C-T c.400-725C>T - IntronicSNV - 2/11 3
1-55511623-T-TCC c.400-569_400-568dup - IntronicInsertion - 2/11 3
1-55511623-T-TC c.400-568dup - IntronicInsertion - 2/11 3
1-55511995-A-G c.400-201A>G - IntronicSNV - 2/11 6
1-55512018-A-T c.400-178A>T - IntronicSNV - 2/11 1
1-55512157-G-A c.400-39G>A - IntronicSNV - 2/11 1
1-55512196-G-A c.400G>A p.A134T Missense 3/12 - 2
1-55512199-TT-AG c.403_404delinsAG p.L135R Missense 3/12 - 1
1-55512200-T-C c.404T>C p.L135S Missense 3/12 - 1
1-55512205-TT-GA c.409_410delinsGA p.L137E Missense 3/12 - 1
1-55512207-G-T c.411G>T p.L137F Missense 3/12 - 1
1-55512208-CC-TA c.412_413delinsTA p.P138Y Missense 3/12 - 1
1-55512208-C-T c.412C>T p.P138S Missense 3/12 - 1
1-55512209-C-G c.413C>G p.P138R Missense 3/12 - 2
1-55512210-C-A c.414C>A p.P138= Synonymous 3/12 - 2
1-55512210-C-G c.414C>G p.P138= Synonymous 3/12 - 1
1-55512210-C-T c.414C>T p.P138= Synonymous 3/12 - 1
1-55512211-C-T c.415C>T p.H139Y Missense 3/12 - 3
1-55512212-A-G c.416A>G p.H139R Missense 3/12 - 2
1-55512213-T-C c.417T>C p.H139= Synonymous 3/12 - 3
1-55512214-G-A c.418G>A p.V140I Missense 3/12 - 2
1-55512214-G-T c.418G>T p.V140F Missense 3/12 - 1
1-55512215-T-C c.419T>C p.V140A Missense 3/12 - 2
1-55512220-T-C c.424T>C p.Y142H Missense 3/12 - 1
1-55512222-C-A c.426C>A p.Y142* Nonsense 3/12 - 29
1-55512222-C-G c.426C>G p.Y142* Nonsense 3/12 - 93
1-55512222-C-T c.426C>T p.Y142= Synonymous 3/12 - 5
1-55512223-A-G c.427A>G p.I143V Missense 3/12 - 1
1-55512223-AT-CC c.427_428delinsCC p.I143P Missense 3/12 - 1
1-55512225-C-A c.429C>A p.I143= Synonymous 3/12 - 1
1-55512225-C-G c.429C>G p.I143M Missense 3/12 - 1
1-55512225-C-T c.429C>T p.I143= Synonymous 3/12 - 1
1-55512226-G-A c.430G>A p.E144K Missense 3/12 - 6
1-55512229-G-C c.433G>C p.E145Q Missense 3/12 - 1
1-55512232-G-A c.436G>A p.D146N Missense 3/12 - 2
1-55512232-G-C c.436G>C p.D146H Missense 3/12 - 1
1-55512236-C-G c.440C>G p.S147C Missense 3/12 - 1
1-55512238-T-G c.442T>G p.S148A Missense 3/12 - 1
1-55512239-C-G c.443C>G p.S148C Missense 3/12 - 1
1-55512239-C-T c.443C>T p.S148F Missense 3/12 - 2
1-55512240-T-G c.444T>G p.S148= Synonymous 3/12 - 1
1-55512242-T-C c.446T>C p.V149A Missense 3/12 - 1
1-55512243-C-T c.447C>T p.V149= Synonymous 3/12 - 1
1-55512244-TT-GC c.448_449delinsGC p.F150A Missense 3/12 - 1
1-55512243-CTT-C c.449_450del p.F150Cfs*20 Frameshift 3/12 - 1
1-55512246-T-C c.450T>C p.F150= Synonymous 3/12 - 1
1-55512247-G-C c.451G>C p.A151P Missense 3/12 - 1
1-55512250-C-A c.454C>A p.Q152K Missense 3/12 - 1
1-55512250-CA-AC c.454_455delinsAC p.Q152T Missense 3/12 - 1
1-55512250-CA-AT c.454_455delinsAT p.Q152M Missense 3/12 - 2
1-55512250-CAG-AAC c.454_456delinsAAC p.Q152N Missense 3/12 - 2
1-55512250-CAG-ATC c.454_456delinsATC p.Q152I Missense 3/12 - 2
1-55512250-CA-GC c.454_455delinsGC p.Q152A Missense 3/12 - 2
1-55512250-CA-GG c.454_455delinsGG p.Q152G Missense 3/12 - 1
1-55512250-CAG-GAC c.454_456delinsGAC p.Q152D Missense 3/12 - 3
1-55512250-CA-GT c.454_455delinsGT p.Q152V Missense 3/12 - 2
1-55512250-CAG-TAT c.454_456delinsTAT p.Q152Y Missense 3/12 - 1
1-55512250-CAG-TTT c.454_456delinsTTT p.Q152F Missense 3/12 - 1
1-55512250-CA-TC c.454_455delinsTC p.Q152S Missense 3/12 - 3
1-55512250-CA-TG c.454_455inv p.Q152W Missense 3/12 - 2
1-55512250-C-G c.454C>G p.Q152E Missense 3/12 - 1
1-55512250-C-T c.454C>T p.Q152* Nonsense 3/12 - 2
1-55512251-A-C c.455A>C p.Q152P Missense 3/12 - 1
1-55512251-A-G c.455A>G p.Q152R Missense 3/12 - 2
1-55512251-A-T c.455A>T p.Q152L Missense 3/12 - 1
1-55512252-G-A c.456G>A p.Q152= Synonymous 3/12 - 1
1-55512252-G-C c.456G>C p.Q152H Missense 3/12 - 28
1-55512252-G-T c.456G>T p.Q152H Missense 3/12 - 26
1-55512253-AGC-CAA c.457_459delinsCAA p.S153Q Missense 3/12 - 1
1-55512253-AGC-GAG c.457_459delinsGAG p.S153E Missense 3/12 - 1
1-55512253-AG-GC c.457_458delinsGC p.S153A Missense 3/12 - 1
1-55512255-C-T c.459C>T p.S153= Synonymous 3/12 - 1
1-55512256-ATC-GAG c.460_462delinsGAG p.I154E Missense 3/12 - 1
1-55512259-CC-GA c.463_464delinsGA p.P155E Missense 3/12 - 1
1-55512259-C-G c.463C>G p.P155A Missense 3/12 - 2
1-55512259-C-T c.463C>T p.P155S Missense 3/12 - 4
1-55512260-C-T c.464C>T p.P155L Missense 3/12 - 3
1-55512261-G-A c.465G>A p.P155= Synonymous 3/12 - 2
1-55512261-G-C c.465G>C p.P155= Synonymous 3/12 - 2
1-55512261-G-T c.465G>T p.P155= Synonymous 3/12 - 1
1-55512262-TG-GA c.466_467delinsGA p.W156E Missense 3/12 - 1
1-55512263-G-A c.467G>A p.W156* Nonsense 3/12 - 3
1-55512264-G-A c.468G>A p.W156* Nonsense 3/12 - 2
1-55512266-A-G c.470A>G p.N157S Missense 3/12 - 2
1-55512267-C-A c.471C>A p.N157K Missense 3/12 - 19
1-55512267-C-G c.471C>G p.N157K Missense 3/12 - 6
1-55512267-C-T c.471C>T p.N157= Synonymous 3/12 - 3
1-55512268-CT-GC c.472_473delinsGC p.L158A Missense 3/12 - 1
1-55512272-A-G c.476A>G p.E159G Missense 3/12 - 1
1-55512274-C-A c.478C>A p.R160= Synonymous 3/12 - 2
1-55512276-G-A c.480G>A p.R160= Synonymous 3/12 - 2
1-55512276-G-C c.480G>C p.R160= Synonymous 3/12 - 2
1-55512276-G-T c.480G>T p.R160= Synonymous 3/12 - 2
1-55512275-G-A c.479G>A p.R160Q Missense 3/12 - 6
1-55512280-A-T c.484A>T p.T162S Missense 3/12 - 1
1-55512281-C-G c.485C>G p.T162S Missense 3/12 - 1
1-55512286-C-T c.490C>T p.P164S Missense 3/12 - 3
1-55512289-C-T c.493C>T p.R165W Missense 3/12 - 2
1-55512290-G-A c.494G>A p.R165Q Missense 3/12 - 4
1-55512290-G-T c.494G>T p.R165L Missense 3/12 - 3
1-55512291-G-A c.495G>A p.R165= Synonymous 3/12 - 1
1-55512295-C-G c.499C>G p.R167G Missense 3/12 - 3
1-55512295-C-T c.499C>T p.R167W Missense 3/12 - 1
1-55512296-G-A c.500G>A p.R167Q Missense 3/12 - 6
1-55512296-GG-AT c.500_501delinsAT p.R167H Missense 3/12 - 1
1-55512296-G-T c.500G>T p.R167L Missense 3/12 - 3
1-55512297-G-A c.501G>A p.R167= Synonymous 3/12 - 1
1-55512298-G-A c.502G>A p.A168T Missense 3/12 - 1
1-55512299-C-A c.503C>A p.A168E Missense 3/12 - 4
1-55512299-C-T c.503C>T p.A168V Missense 3/12 - 1
1-55512300-G-A c.504G>A p.A168= Synonymous 3/12 - 10
1-55512300-G-C c.504G>C p.A168= Synonymous 3/12 - 4
1-55512300-G-T c.504G>T p.A168= Synonymous 3/12 - 4
1-55512301-G-A c.505G>A p.D169N Missense 3/12 - 6
1-55512304-G-A c.508G>A p.E170K Missense 3/12 - 1
1-55512308-A-T c.512A>T p.Y171F Missense 3/12 - 2
1-55512309-C-A c.513C>A p.Y171* Nonsense 3/12 - 1
1-55512310-C-G c.514C>G p.Q172E Missense 3/12 - 1
1-55512312-G-A c.516G>A p.Q172= Synonymous 3/12 - 1
1-55512313-C-T c.517C>T p.P173S Missense 3/12 - 1
1-55512314-C-T c.518C>T p.P173L Missense 3/12 - 1
1-55512315-C-G c.519C>G p.P173= Synonymous 3/12 - 1
1-55512316-C-T c.520C>T p.P174S Missense 3/12 - 8
1-55512317-C-T c.521C>T p.P174L Missense 3/12 - 1
1-55512318-C-G c.522C>G p.P174= Synonymous 3/12 - 1
1-55512318-C-T c.522C>T p.P174= Synonymous 3/12 - 4
1-55512319-G-A c.523G>A p.D175N Missense 3/12 - 3
1-55512320-G-GT c.523+2dup - IntronicInsertion - 3/11 1
1-55512365-C-A c.523+46C>A - IntronicSNV - 3/11 2
1-55512414-C-G c.523+95C>G - IntronicSNV - 3/11 1
1-55512420-G-T c.523+101G>T - IntronicSNV - 3/11 1
1-55512423-T-C c.523+104T>C - IntronicSNV - 3/11 1
1-55512434-C-T c.523+115C>T - IntronicSNV - 3/11 1
1-55512435-A-G c.523+116A>G - IntronicSNV - 3/11 1
1-55512445-AC-A c.523+130del - IntronicDeletion - 3/11 1
1-55512549-T-A c.523+230T>A - IntronicSNV - 3/11 9
1-55512549-T-C c.523+230T>C - IntronicSNV - 3/11 10
1-55512882-G-C c.523+563G>C - IntronicSNV - 3/11 2
1-55512995-G-A c.523+676G>A - IntronicSNV - 3/11 5
1-55513043-C-T c.523+724C>T - IntronicSNV - 3/11 2
1-55513061-T-C c.523+742T>C - IntronicSNV - 3/11 18
1-55513183-C-T c.523+864C>T - IntronicSNV - 3/11 2
1-55513521-C-A c.523+1202C>A - IntronicSNV - 3/11 5
1-55513521-C-G c.523+1202C>G - IntronicSNV - 3/11 5
1-55514046-G-T c.523+1727G>T - IntronicSNV - 3/11 1
1-55514073-C-G c.523+1754C>G - IntronicSNV - 3/11 2
1-55514158-G-A c.523+1839G>A - IntronicSNV - 3/11 1
1-55514158-G-T c.523+1839G>T - IntronicSNV - 3/11 1
1-55514182-T-C c.523+1863T>C - IntronicSNV - 3/11 2
1-55514215-G-T c.523+1896G>T - IntronicSNV - 3/11 2
1-55514611-A-T c.523+2292A>T - IntronicSNV - 3/11 1
1-55514956-G-A c.523+2637G>A - IntronicSNV - 3/11 2
1-55515234-C-A c.524-2717C>A - IntronicSNV - 3/11 1
1-55515481-C-G c.524-2470C>G - IntronicSNV - 3/11 1
1-55515481-C-T c.524-2470C>T - IntronicSNV - 3/11 1
1-55515537-C-G c.524-2414C>G - IntronicSNV - 3/11 1
1-55515537-C-T c.524-2414C>T - IntronicSNV - 3/11 1
1-55516004-C-A c.524-1947C>A - IntronicSNV - 3/11 12
1-55516220-C-G c.524-1731C>G - IntronicSNV - 3/11 1
1-55516508-A-G c.524-1443A>G - IntronicSNV - 3/11 3
1-55516713-C-T c.524-1238C>T - IntronicSNV - 3/11 3
1-55516781-G-T c.524-1170G>T - IntronicSNV - 3/11 5
1-55516835-T-C c.524-1116T>C - IntronicSNV - 3/11 1
1-55516884-C-A c.524-1067C>A - IntronicSNV - 3/11 1
1-55516884-C-T c.524-1067C>T - IntronicSNV - 3/11 1
1-55517344-C-G c.524-607C>G - IntronicSNV - 3/11 10
1-55517344-C-T c.524-607C>T - IntronicSNV - 3/11 10
1-55517861-C-G c.524-90C>G - IntronicSNV - 3/11 6
1-55517883-C-G c.524-68C>G - IntronicSNV - 3/11 5
1-55517940-G-A c.524-11G>A - IntronicSNV - 3/11 6
1-55517940-G-T c.524-11G>T - IntronicSNV - 3/11 6
1-55517952-C-T c.525C>T p.D175= Synonymous 4/12 - 3
1-55517954-G-A c.527G>A p.G176E Missense 4/12 - 1
1-55517957-G-A c.530G>A p.G177D Missense 4/12 - 3
1-55517960-G-A c.533G>A p.S178N Missense 4/12 - 1
1-55517960-G-C c.533G>C p.S178T Missense 4/12 - 1
1-55517977-C-T c.550C>T p.L184F Missense 4/12 - 2
1-55517980-C-G c.553C>G p.L185V Missense 4/12 - 1
1-55517984-A-G c.557A>G p.D186G Missense 4/12 - 1
1-55517987-C-T c.560C>T p.T187I Missense 4/12 - 1
1-55517992-A-G c.565A>G p.I189V Missense 4/12 - 1
1-55517991-C-CAT c.566_567dup p.Q190Yfs*78 Frameshift 4/12 - 1
1-55517996-A-G c.569A>G p.Q190R Missense 4/12 - 1
1-55517999-G-A c.572G>A p.S191N Missense 4/12 - 1
1-55518007-C-A c.580C>A p.R194= Synonymous 4/12 - 1
1-55518007-CG-GC c.580_581delinsGC p.R194A Missense 4/12 - 5
1-55518007-C-T c.580C>T p.R194W Missense 4/12 - 2
1-55518008-G-A c.581G>A p.R194Q Missense 4/12 - 1
1-55518010-G-A c.583G>A p.E195K Missense 4/12 - 5
1-55518012-A-G c.585A>G p.E195= Synonymous 4/12 - 1
1-55518015-C-G c.588C>G p.I196M Missense 4/12 - 1
1-55518016-G-A c.589G>A p.E197K Missense 4/12 - 3
1-55518019-G-A c.592G>A p.G198S Missense 4/12 - 5
1-55518019-G-C c.592G>C p.G198R Missense 4/12 - 2
1-55518022-AG-TA c.595_596delinsTA p.R199* Nonsense 4/12 - 1
1-55518023-GG-TC c.596_597delinsTC p.R199I Missense 4/12 - 1
1-55518023-G-T c.596G>T p.R199M Missense 4/12 - 1
1-55518025-GTC-ATG c.598_600delinsATG p.V200M Missense 4/12 - 1
1-55518026-T-C c.599T>C p.V200A Missense 4/12 - 1
1-55518028-A-C c.601A>C p.M201L Missense 4/12 - 1
1-55518028-A-T c.601A>T p.M201L Missense 4/12 - 1
1-55518029-T-C c.602T>C p.M201T Missense 4/12 - 1
1-55518035-C-G c.608C>G p.T203S Missense 4/12 - 1
1-55518036-C-A c.609C>A p.T203= Synonymous 4/12 - 2
1-55518036-C-T c.609C>T p.T203= Synonymous 4/12 - 1
1-55518037-G-A c.610G>A p.D204N Missense 4/12 - 4
1-55518042-C-T c.615C>T p.F205= Synonymous 4/12 - 6
1-55518043-G-A c.616G>A p.E206K Missense 4/12 - 2
1-55518046-A-C c.619A>C p.N207H Missense 4/12 - 1
1-55518046-A-T c.619A>T p.N207Y Missense 4/12 - 2
1-55518049-GTG-ATC c.622_624delinsATC p.V208I Missense 4/12 - 1
1-55518049-GTG-TTT c.622_624delinsTTT p.V208F Missense 4/12 - 1
1-55518053-C-T c.626C>T p.P209L Missense 4/12 - 2
1-55518054-C-A c.627C>A p.P209= Synonymous 4/12 - 1
1-55518056-A-C c.629A>C p.E210A Missense 4/12 - 2
1-55518057-G-A c.630G>A p.E210= Synonymous 4/12 - 1
1-55518058-G-A c.631G>A p.E211K Missense 4/12 - 1
1-55518060-G-A c.633G>A p.E211= Synonymous 4/12 - 1
1-55518061-G-A c.634G>A p.D212N Missense 4/12 - 1
1-55518061-G-T c.634G>T p.D212Y Missense 4/12 - 1
1-55518064-G-A c.637G>A p.G213R Missense 4/12 - 4
1-55518066-G-A c.639G>A p.G213= Synonymous 4/12 - 2
1-55518066-G-C c.639G>C p.G213= Synonymous 4/12 - 1
1-55518066-G-T c.639G>T p.G213= Synonymous 4/12 - 1
1-55518069-C-A c.642C>A p.T214= Synonymous 4/12 - 3
1-55518069-C-G c.642C>G p.T214= Synonymous 4/12 - 3
1-55518069-C-T c.642C>T p.T214= Synonymous 4/12 - 4
1-55518070-CG-GC c.643_644delinsGC p.R215A Missense 4/12 - 3
1-55518070-CG-TT c.643_644delinsTT p.R215F Missense 4/12 - 1
1-55518070-C-T c.643C>T p.R215C Missense 4/12 - 11
1-55518071-G-A c.644G>A p.R215H Missense 4/12 - 21
1-55518071-G-T c.644G>T p.R215L Missense 4/12 - 2
1-55518073-T-C c.646T>C p.F216L Missense 4/12 - 48
1-55518073-TT-CG c.646_647delinsCG p.F216R Missense 4/12 - 1
1-55518075-C-A c.648C>A p.F216L Missense 4/12 - 20
1-55518075-C-G c.648C>G p.F216L Missense 4/12 - 20
1-55518076-CA-GC c.649_650delinsGC p.H217A Missense 4/12 - 1
1-55518076-C-T c.649C>T p.H217Y Missense 4/12 - 1
1-55518077-A-G c.650A>G p.H217R Missense 4/12 - 1
1-55518079-AGA-CAT c.652_654delinsCAT p.R218H Missense 4/12 - 1
1-55518079-AG-CA c.652_653delinsCA p.R218Q Missense 4/12 - 1
1-55518079-AG-GC c.652_653delinsGC p.R218A Missense 4/12 - 2
1-55518080-G-A c.653G>A p.R218K Missense 4/12 - 1
1-55518080-G-C c.653G>C p.R218T Missense 4/12 - 1
1-55518081-A-C c.654A>C p.R218S Missense 4/12 - 32
1-55518081-A-T c.654A>T p.R218S Missense 4/12 - 32
1-55518082-C-G c.655C>G p.Q219E Missense 4/12 - 5
1-55518084-G-A c.657G>A p.Q219= Synonymous 4/12 - 1
1-55518085-G-T c.657+1G>T - IntronicSNV - 4/11 6
1-55518091-A-C c.657+7A>C - IntronicSNV - 4/11 1
1-55518093-G-A c.657+9G>A - IntronicSNV - 4/11 8
1-55518160-C-A c.657+76C>A - IntronicSNV - 4/11 8
1-55518160-C-G c.657+76C>G - IntronicSNV - 4/11 6
1-55518166-G-A c.657+82G>A - IntronicSNV - 4/11 15
1-55518166-G-C c.657+82G>C - IntronicSNV - 4/11 10
1-55518166-G-T c.657+82G>T - IntronicSNV - 4/11 10
1-55518186-T-C c.657+102T>C - IntronicSNV - 4/11 2
1-55518190-CA-C c.657+106del - IntronicDeletion - 4/11 1
1-55518191-C-T c.657+107C>T - IntronicSNV - 4/11 2
1-55518190-ACC-A c.657+113_657+114del - IntronicDeletion - 4/11 1
1-55518190-A-AC c.657+114dup - IntronicInsertion - 4/11 1
1-55518190-AC-A c.657+114del - IntronicDeletion - 4/11 5
1-55518198-C-A c.657+114C>A - IntronicSNV - 4/11 4
1-55518198-C-CA c.657+115dup - IntronicInsertion - 4/11 1
1-55518199-A-G c.657+115A>G - IntronicSNV - 4/11 1
1-55518283-G-A c.658-40G>A - IntronicSNV - 4/11 1
1-55518283-G-C c.658-40G>C - IntronicSNV - 4/11 1
1-55518283-G-T c.658-40G>T - IntronicSNV - 4/11 1
1-55518287-G-A c.658-36G>A - IntronicSNV - 4/11 2
1-55518287-G-C c.658-36G>C - IntronicSNV - 4/11 2
1-55518316-C-T c.658-7C>T - IntronicSNV - 4/11 26
1-55518321-A-C c.658-2A>C - IntronicSNV - 4/11 2
1-55518321-A-G c.658-2A>G - IntronicSNV - 4/11 2
1-55518323-G-A c.658G>A p.A220T Missense 5/12 - 7
1-55518323-GC-G c.660del p.S221Afs*46 Frameshift 5/12 - 1
1-55518326-A-T c.661A>T p.S221C Missense 5/12 - 1
1-55518327-G-C c.662G>C p.S221T Missense 5/12 - 1
1-55518331-G-A c.666G>A p.K222= Synonymous 5/12 - 1
1-55518331-G-C c.666G>C p.K222N Missense 5/12 - 1
1-55518334-T-A c.669T>A p.C223* Nonsense 5/12 - 1
1-55518338-AG-CT c.673_674inv p.S225L Missense 5/12 - 1
1-55518339-G-A c.674G>A p.S225N Missense 5/12 - 1
1-55518341-CA-GC c.676_677delinsGC p.H226A Missense 5/12 - 9
1-55518345-G-A c.680G>A p.G227D Missense 5/12 - 5
1-55518351-A-G c.686A>G p.H229R Missense 5/12 - 1
1-55518352-C-T c.687C>T p.H229= Synonymous 5/12 - 2
1-55518353-CT-GC c.688_689delinsGC p.L230A Missense 5/12 - 1
1-55518353-CT-GG c.688_689delinsGG p.L230G Missense 5/12 - 1
1-55518353-CT-TC c.688_689delinsTC p.L230S Missense 5/12 - 1
1-55518353-C-T c.688C>T p.L230= Synonymous 5/12 - 2
1-55518355-G-A c.690G>A p.L230= Synonymous 5/12 - 2
1-55518355-G-C c.690G>C p.L230= Synonymous 5/12 - 2
1-55518355-G-T c.690G>T p.L230= Synonymous 5/12 - 2
1-55518357-C-A c.692C>A p.A231E Missense 5/12 - 1
1-55518359-G-A c.694G>A p.G232R Missense 5/12 - 5
1-55518359-G-C c.694G>C p.G232R Missense 5/12 - 1
1-55518361-G-A c.696G>A p.G232= Synonymous 5/12 - 2
1-55518358-AG-A c.697del p.V233Wfs*34 Frameshift 5/12 - 1
1-55518362-G-C c.697G>C p.V233L Missense 5/12 - 3
1-55518362-G-T c.697G>T p.V233L Missense 5/12 - 3
1-55518369-G-A c.704G>A p.S235N Missense 5/12 - 1
1-55518370-C-T c.705C>T p.S235= Synonymous 5/12 - 4
1-55518371-G-A c.706G>A p.G236S Missense 5/12 - 11
1-55518371-GGC-TGG c.706_708delinsTGG p.G236W Missense 5/12 - 1
1-55518372-G-A c.707G>A p.G236D Missense 5/12 - 3
1-55518372-G-C c.707G>C p.G236A Missense 5/12 - 2
1-55518374-C-T c.709C>T p.R237W Missense 5/12 - 27
1-55518375-G-A c.710G>A p.R237Q Missense 5/12 - 5
1-55518375-GG-AT c.710_711delinsAT p.R237H Missense 5/12 - 1
1-55518376-G-GT c.711_712insT p.D238* Nonsense 5/12 - 1
1-55518377-G-GA c.713dup p.D238Efs*25 Frameshift 5/12 - 1
1-55518378-A-C c.713A>C p.D238A Missense 5/12 - 1
1-55518378-A-T c.713A>T p.D238V Missense 5/12 - 1
1-55518381-C-A c.716C>A p.A239D Missense 5/12 - 2
1-55518381-C-T c.716C>T p.A239V Missense 5/12 - 1
1-55518383-G-A c.718G>A p.G240S Missense 5/12 - 3
1-55518383-G-T c.718G>T p.G240C Missense 5/12 - 1
1-55518385-C-A c.720C>A p.G240= Synonymous 5/12 - 3
1-55518385-C-G c.720C>G p.G240= Synonymous 5/12 - 1
1-55518385-C-T c.720C>T p.G240= Synonymous 5/12 - 5
1-55518386-G-A c.721G>A p.V241M Missense 5/12 - 4
1-55518389-G-A c.724G>A p.A242T Missense 5/12 - 1
1-55518390-C-T c.725C>T p.A242V Missense 5/12 - 1
1-55518392-A-G c.727A>G p.K243E Missense 5/12 - 2
1-55518395-G-A c.730G>A p.G244S Missense 5/12 - 3
1-55518396-G-A c.731G>A p.G244D Missense 5/12 - 2
1-55518398-G-A c.733G>A p.A245T Missense 5/12 - 3
1-55518402-G-T c.737G>T p.S246I Missense 5/12 - 1
1-55518403-C-A c.738C>A p.S246R Missense 5/12 - 1
1-55518407-CG-GC c.742_743delinsGC p.R248A Missense 5/12 - 1
1-55518407-C-T c.742C>T p.R248C Missense 5/12 - 1
1-55518408-G-A c.743G>A p.R248H Missense 5/12 - 2
1-55518408-GC-AA c.743_744delinsAA p.R248Q Missense 5/12 - 1
1-55518409-C-A c.744C>A p.R248= Synonymous 5/12 - 1
1-55518409-C-G c.744C>G p.R248= Synonymous 5/12 - 1
1-55518409-C-T c.744C>T p.R248= Synonymous 5/12 - 1
1-55518410-A-G c.745A>G p.S249G Missense 5/12 - 1
1-55518410-A-T c.745A>T p.S249C Missense 5/12 - 1
1-55518411-G-T c.746G>T p.S249I Missense 5/12 - 1
1-55518412-C-A c.747C>A p.S249R Missense 5/12 - 3
1-55518414-T-A c.749T>A p.L250Q Missense 5/12 - 1
1-55518416-CG-GC c.751_752delinsGC p.R251A Missense 5/12 - 1
1-55518416-C-T c.751C>T p.R251C Missense 5/12 - 5
1-55518417-G-A c.752G>A p.R251H Missense 5/12 - 3
1-55518418-C-A c.753C>A p.R251= Synonymous 5/12 - 1
1-55518418-C-G c.753C>G p.R251= Synonymous 5/12 - 1
1-55518418-C-T c.753C>T p.R251= Synonymous 5/12 - 3
1-55518419-G-A c.754G>A p.V252M Missense 5/12 - 3
1-55518419-G-C c.754G>C p.V252L Missense 5/12 - 2
1-55518419-G-T c.754G>T p.V252L Missense 5/12 - 1
1-55518420-GT-G c.755del p.V252Gfs*15 Frameshift 5/12 - 1
1-55518420-T-C c.755T>C p.V252A Missense 5/12 - 1
1-55518421-G-T c.756G>T p.V252= Synonymous 5/12 - 1
1-55518422-C-T c.757C>T p.L253F Missense 5/12 - 27
1-55518422-CTC-GAG c.757_759inv p.L253E Missense 5/12 - 1
1-55518431-C-T c.766C>T p.Q256* Nonsense 5/12 - 2
1-55518434-GGG-TGT c.769_771delinsTGT p.G257C Missense 5/12 - 1
1-55518436-G-A c.771G>A p.G257= Synonymous 5/12 - 2
1-55518437-A-T c.772A>T p.K258* Nonsense 5/12 - 1
1-55518441-GC-AG c.776_777delinsAG p.G259E Missense 5/12 - 1
1-55518442-C-T c.777C>T p.G259= Synonymous 5/12 - 1
1-55518444-C-T c.779C>T p.T260M Missense 5/12 - 4
1-55518445-G-A c.780G>A p.T260= Synonymous 5/12 - 2
1-55518445-G-C c.780G>C p.T260= Synonymous 5/12 - 1
1-55518445-G-T c.780G>T p.T260= Synonymous 5/12 - 2
1-55518446-G-T c.781G>T p.V261F Missense 5/12 - 1
1-55518450-G-T c.785G>T p.S262I Missense 5/12 - 1
1-55518451-C-T c.786C>T p.S262= Synonymous 5/12 - 1
1-55518452-G-A c.787G>A p.G263S Missense 5/12 - 3
1-55518455-A-C c.790A>C p.T264P Missense 5/12 - 1
1-55518455-A-G c.790A>G p.T264A Missense 5/12 - 2
1-55518456-C-A c.791C>A p.T264N Missense 5/12 - 2
1-55518456-C-G c.791C>G p.T264S Missense 5/12 - 1
1-55518456-C-T c.791C>T p.T264I Missense 5/12 - 5
1-55518458-CTC-ATG c.793_795delinsATG p.L265M Missense 5/12 - 1
1-55518460-CAT-C c.797_798del p.I266Rfs*160 SpliceDonorDeletion 5/12 - 2
1-55518464-G-C c.799G>C p.G267R Missense 5/12 - 1
1-55518467-A-G c.799+3A>G - IntronicSNV - 5/11 32
1-55518490-C-A c.799+26C>A - IntronicSNV - 5/11 1
1-55518490-C-T c.799+26C>T - IntronicSNV - 5/11 2
1-55518526-G-C c.799+62G>C - IntronicSNV - 5/11 1
1-55518528-C-A c.799+64C>A - IntronicSNV - 5/11 10
1-55518551-C-T c.799+87C>T - IntronicSNV - 5/11 2
1-55518568-T-C c.799+104T>C - IntronicSNV - 5/11 1
1-55518583-C-T c.799+119C>T - IntronicSNV - 5/11 1
1-55518591-C-T c.799+127C>T - IntronicSNV - 5/11 1
1-55518622-T-C c.799+158T>C - IntronicSNV - 5/11 5
1-55518630-G-A c.799+166G>A - IntronicSNV - 5/11 1
1-55518682-C-T c.799+218C>T - IntronicSNV - 5/11 4
1-55518752-C-T c.799+288C>T - IntronicSNV - 5/11 27
1-55518828-A-G c.799+364A>G - IntronicSNV - 5/11 1
1-55519014-C-T c.799+550C>T - IntronicSNV - 5/11 1
1-55519015-G-A c.799+551G>A - IntronicSNV - 5/11 5
1-55519015-G-T c.799+551G>T - IntronicSNV - 5/11 5
1-55519068-A-T c.799+604A>T - IntronicSNV - 5/11 1
1-55519174-G-A c.799+710G>A - IntronicSNV - 5/11 6
1-55519174-G-C c.799+710G>C - IntronicSNV - 5/11 5
1-55519231-A-T c.799+767A>T - IntronicSNV - 5/11 2
1-55519238-C-T c.799+774C>T - IntronicSNV - 5/11 2
1-55520212-G-A c.800-1454G>A - IntronicSNV - 5/11 3
1-55520265-T-C c.800-1401T>C - IntronicSNV - 5/11 3
1-55520408-G-A c.800-1258G>A - IntronicSNV - 5/11 1
1-55520408-G-C c.800-1258G>C - IntronicSNV - 5/11 1
1-55520445-A-G c.800-1221A>G - IntronicSNV - 5/11 3
1-55520864-A-G c.800-802A>G - IntronicSNV - 5/11 6
1-55520938-G-A c.800-728G>A - IntronicSNV - 5/11 1
1-55521109-G-A c.800-557G>A - IntronicSNV - 5/11 3
1-55521109-G-C c.800-557G>C - IntronicSNV - 5/11 3
1-55521242-T-A c.800-424T>A - IntronicSNV - 5/11 2
1-55521242-T-G c.800-424T>G - IntronicSNV - 5/11 2
1-55521313-G-T c.800-353G>T - IntronicSNV - 5/11 5
1-55521352-C-T c.800-314C>T - IntronicSNV - 5/11 1
1-55521666-G-A c.800G>A p.G267D Missense 6/12 - 1
1-55521671-G-A c.805G>A p.E269K Missense 6/12 - 1
1-55521671-G-T c.805G>T p.E269* Nonsense 6/12 - 1
1-55521672-A-C c.806A>C p.E269A Missense 6/12 - 1
1-55521680-CGG-ATC c.814_816delinsATC p.R272I Missense 6/12 - 1
1-55521680-C-T c.814C>T p.R272W Missense 6/12 - 3
1-55521681-G-A c.815G>A p.R272Q Missense 6/12 - 3
1-55521685-A-AT c.819_820insT p.S274* Nonsense 6/12 - 1
1-55521685-A-C c.819A>C p.K273N Missense 6/12 - 1
1-55521687-G-C c.821G>C p.S274T Missense 6/12 - 1
1-55521698-C-T c.832C>T p.Q278* Nonsense 6/12 - 2
1-55521701-C-A c.835C>A p.P279T Missense 6/12 - 5
1-55521701-C-G c.835C>G p.P279A Missense 6/12 - 3
1-55521705-T-C c.839T>C p.V280A Missense 6/12 - 1
1-55521713-C-A c.847C>A p.L283M Missense 6/12 - 1
1-55521716-G-A c.850G>A p.V284M Missense 6/12 - 1
1-55521719-GTG-ATC c.853_855delinsATC p.V285I Missense 6/12 - 1
1-55521725-C-T c.859C>T p.L287= Synonymous 6/12 - 2
1-55521726-T-C c.860T>C p.L287P Missense 6/12 - 1
1-55521727-G-A c.861G>A p.L287= Synonymous 6/12 - 1
1-55521727-G-C c.861G>C p.L287= Synonymous 6/12 - 1
1-55521727-G-T c.861G>T p.L287= Synonymous 6/12 - 1
1-55521728-C-A c.862C>A p.P288T Missense 6/12 - 1
1-55521729-CC-TT c.863_864delinsTT p.P288L Missense 6/12 - 1
1-55521729-C-T c.863C>T p.P288L Missense 6/12 - 3
1-55521735-C-T c.869C>T p.A290V Missense 6/12 - 1
1-55521737-G-A c.871G>A p.G291S Missense 6/12 - 1
1-55521741-G-A c.875G>A p.G292E Missense 6/12 - 1
1-55521746-AG-TT c.880_881delinsTT p.S294F Missense 6/12 - 1
1-55521747-G-A c.881G>A p.S294N Missense 6/12 - 1
1-55521749-C-G c.883C>G p.R295G Missense 6/12 - 1
1-55521749-C-T c.883C>T p.R295C Missense 6/12 - 1
1-55521750-G-A c.884G>A p.R295H Missense 6/12 - 1
1-55521751-C-A c.885C>A p.R295= Synonymous 6/12 - 1
1-55521751-C-G c.885C>G p.R295= Synonymous 6/12 - 1
1-55521751-C-T c.885C>T p.R295= Synonymous 6/12 - 1
1-55521752-G-A c.886G>A p.V296I Missense 6/12 - 1
1-55521754-C-A c.888C>A p.V296= Synonymous 6/12 - 2
1-55521758-AA-GC c.892_893delinsGC p.N298A Missense 6/12 - 1
1-55521758-A-G c.892A>G p.N298D Missense 6/12 - 1
1-55521763-C-A c.897C>A p.A299= Synonymous 6/12 - 1
1-55521763-C-G c.897C>G p.A299= Synonymous 6/12 - 1
1-55521763-C-T c.897C>T p.A299= Synonymous 6/12 - 5
1-55521764-G-A c.898G>A p.A300T Missense 6/12 - 1
1-55521765-C-T c.899C>T p.A300V Missense 6/12 - 3
1-55521767-TG-AC c.901_902delinsAC p.C301T Missense 6/12 - 1
1-55521767-TG-GC c.901_902delinsGC p.C301A Missense 6/12 - 1
1-55521769-C-A c.903C>A p.C301* Nonsense 6/12 - 1
1-55521770-C-T c.904C>T p.Q302* Nonsense 6/12 - 1
1-55521771-A-G c.905A>G p.Q302R Missense 6/12 - 1
1-55521772-G-T c.906G>T p.Q302H Missense 6/12 - 1
1-55521773-C-T c.907C>T p.R303C Missense 6/12 - 2
1-55521774-G-A c.908G>A p.R303H Missense 6/12 - 1
1-55521774-G-T c.908G>T p.R303L Missense 6/12 - 1
1-55521781-G-A c.915G>A p.A305= Synonymous 6/12 - 2
1-55521784-G-C c.918G>C p.R306S Missense 6/12 - 3
1-55521784-G-T c.918G>T p.R306S Missense 6/12 - 3
1-55521787-T-A c.921T>A p.A307= Synonymous 6/12 - 1
1-55521787-T-C c.921T>C p.A307= Synonymous 6/12 - 2
1-55521787-T-G c.921T>G p.A307= Synonymous 6/12 - 1
1-55521788-G-A c.922G>A p.G308R Missense 6/12 - 3
1-55521788-G-C c.922G>C p.G308R Missense 6/12 - 3
1-55521791-G-C c.925G>C p.V309L Missense 6/12 - 1
1-55521793-C-A c.927C>A p.V309= Synonymous 6/12 - 1
1-55521793-C-G c.927C>G p.V309= Synonymous 6/12 - 1
1-55521793-C-T c.927C>T p.V309= Synonymous 6/12 - 1
1-55521795-T-C c.929T>C p.V310A Missense 6/12 - 1
1-55521797-CT-AC c.931_932delinsAC p.L311T Missense 6/12 - 1
1-55521799-G-C c.933G>C p.L311= Synonymous 6/12 - 1
1-55521800-G-T c.934G>T p.V312F Missense 6/12 - 2
1-55521800-GT-AG c.934_935delinsAG p.V312S Missense 6/12 - 2
1-55521805-C-G c.939C>G p.T313= Synonymous 6/12 - 1
1-55521805-C-T c.939C>T p.T313= Synonymous 6/12 - 1
1-55521806-G-A c.940G>A p.A314T Missense 6/12 - 5
1-55521812-G-T c.946G>T p.G316C Missense 6/12 - 4
1-55521813-G-C c.947G>C p.G316A Missense 6/12 - 1
1-55521816-A-G c.950A>G p.N317S Missense 6/12 - 1
1-55521819-T-A c.953T>A p.F318Y Missense 6/12 - 1
1-55521821-C-A c.955C>A p.R319= Synonymous 6/12 - 1
1-55521821-CG-AA c.955_956delinsAA p.R319K Missense 6/12 - 1
1-55521821-CG-GA c.955_956delinsGA p.R319E Missense 6/12 - 2
1-55521821-CG-TA c.955_956delinsTA p.R319* Nonsense 6/12 - 1
1-55521821-C-T c.955C>T p.R319W Missense 6/12 - 2
1-55521824-G-A c.958G>A p.D320N Missense 6/12 - 3
1-55521824-G-T c.958G>T p.D320Y Missense 6/12 - 1
1-55521826-C-A c.960C>A p.D320E Missense 6/12 - 1
1-55521826-C-T c.960C>T p.D320= Synonymous 6/12 - 3
1-55521827-G-A c.961G>A p.D321N Missense 6/12 - 4
1-55521832-C-T c.966C>T p.A322= Synonymous 6/12 - 1
1-55521835-C-A c.969C>A p.C323* Nonsense 6/12 - 1
1-55521836-CTC-ATG c.970_972delinsATG p.L324M Missense 6/12 - 1
1-55521843-C-T c.977C>T p.S326F Missense 6/12 - 1
1-55521851-T-G c.985T>G p.S329A Missense 6/12 - 1
1-55521852-C-T c.986C>T p.S329L Missense 6/12 - 4
1-55521853-A-C c.987A>C p.S329= Synonymous 6/12 - 1
1-55521853-A-G c.987A>G p.S329= Synonymous 6/12 - 1
1-55521854-G-C c.988G>C p.A330P Missense 6/12 - 1
1-55521854-GC-CG c.988_989delinsCG p.A330R Missense 6/12 - 1
1-55521854-G-T c.988G>T p.A330S Missense 6/12 - 1
1-55521855-C-T c.989C>T p.A330V Missense 6/12 - 1
1-55521857-C-G c.991C>G p.P331A Missense 6/12 - 1
1-55521859-C-A c.993C>A p.P331= Synonymous 6/12 - 1
1-55521859-C-G c.993C>G p.P331= Synonymous 6/12 - 1
1-55521859-C-T c.993C>T p.P331= Synonymous 6/12 - 2
1-55521860-G-A c.994G>A p.E332K Missense 6/12 - 1
1-55521860-G-T c.994G>T p.E332* Nonsense 6/12 - 1
1-55521861-A-C c.995A>C p.E332A Missense 6/12 - 1
1-55521861-A-G c.995A>G p.E332G Missense 6/12 - 1
1-55521862-G-C c.996G>C p.E332D Missense 6/12 - 1
1-55521862-G-T c.996G>T p.E332D Missense 6/12 - 1
1-55521870-GC-G c.996+8del - IntronicDeletion - 6/11 1
1-55521889-G-A c.996+27G>A - IntronicSNV - 6/11 1
1-55521893-G-A c.996+31G>A - IntronicSNV - 6/11 1
1-55521894-G-C c.996+32G>C - IntronicSNV - 6/11 1
1-55521897-AGGGGGCG-A c.996+37_996+43del - IntronicDeletion - 6/11 1
1-55521897-AGGG-A c.996+38_996+40del - IntronicDeletion - 6/11 1
1-55521897-AG-A c.996+40del - IntronicDeletion - 6/11 1
1-55521899-GGGGC-G c.996+40_996+43del - IntronicDeletion - 6/11 1
1-55521900-GGGC-G c.996+41_996+43del - IntronicDeletion - 6/11 1
1-55521900-GGGCGGA-G c.996+41_996+46del - IntronicDeletion - 6/11 1
1-55521901-GGC-G c.996+41_996+42del - IntronicDeletion - 6/11 1
1-55521901-GGCGGA-G c.996+41_996+45del - IntronicDeletion - 6/11 1
1-55521903-C-G c.996+41C>G - IntronicSNV - 6/11 1
1-55521903-C-T c.996+41C>T - IntronicSNV - 6/11 1
1-55521903-GC-G c.996+41del - IntronicDeletion - 6/11 1
1-55521903-GCGGA-G c.996+41_996+44del - IntronicDeletion - 6/11 1
1-55521904-CGG-C c.996+42_996+43del - IntronicDeletion - 6/11 1
1-55521904-G-A c.996+42G>A - IntronicSNV - 6/11 1
1-55521903-CGGA-C c.996+44_996+46del - IntronicDeletion - 6/11 1
1-55521904-GGA-G c.996+44_996+45del - IntronicDeletion - 6/11 1
1-55521906-A-C c.996+44A>C - IntronicSNV - 6/11 2
1-55521906-A-G c.996+44A>G - IntronicSNV - 6/11 4
1-55521906-A-T c.996+44A>T - IntronicSNV - 6/11 3
1-55521906-GA-G c.996+44del - IntronicDeletion - 6/11 1
1-55521906-AGG-A c.996+46_996+47del - IntronicDeletion - 6/11 1
1-55521906-AG-A c.996+47del - IntronicDeletion - 6/11 1
1-55521906-AGGGC-A c.996+47_996+50del - IntronicDeletion - 6/11 1
1-55521907-GGGCGGA-G c.996+48_996+53del - IntronicDeletion - 6/11 1
1-55521910-GC-G c.996+48del - IntronicDeletion - 6/11 1
1-55521910-GCGGA-G c.996+48_996+51del - IntronicDeletion - 6/11 1
1-55521911-CGG-C c.996+49_996+50del - IntronicDeletion - 6/11 1
1-55521910-CG-C c.996+50del - IntronicDeletion - 6/11 1
1-55521911-GGA-G c.996+51_996+52del - IntronicDeletion - 6/11 1
1-55521913-A-G c.996+51A>G - IntronicSNV - 6/11 1
1-55521913-GA-G c.996+51del - IntronicDeletion - 6/11 1
1-55521899-GGGGCGGA-G c.996+55_996+61del - IntronicDeletion - 6/11 2
1-55521917-C-A c.996+55C>A - IntronicSNV - 6/11 1
1-55521917-C-CG c.996+57dup - IntronicInsertion - 6/11 1
1-55521920-A-C c.996+58A>C - IntronicSNV - 6/11 1
1-55521920-A-G c.996+58A>G - IntronicSNV - 6/11 1
1-55521922-GGA-G c.996+62_996+63del - IntronicDeletion - 6/11 1
1-55521924-A-G c.996+62A>G - IntronicSNV - 6/11 1
1-55521938-G-C c.996+76G>C - IntronicSNV - 6/11 1
1-55521940-C-T c.996+78C>T - IntronicSNV - 6/11 1
1-55521952-G-A c.996+90G>A - IntronicSNV - 6/11 1
1-55521956-C-G c.996+94C>G - IntronicSNV - 6/11 1
1-55521958-T-C c.996+96T>C - IntronicSNV - 6/11 1
1-55522013-C-T c.996+151C>T - IntronicSNV - 6/11 1
1-55522033-C-A c.996+171C>A - IntronicSNV - 6/11 1
1-55522039-G-T c.996+177G>T - IntronicSNV - 6/11 1
1-55522074-CAG-C c.996+215_996+216del - IntronicDeletion - 6/11 1
1-55522083-A-C c.996+221A>C - IntronicSNV - 6/11 1
1-55522141-A-C c.996+279A>C - IntronicSNV - 6/11 3
1-55522141-A-G c.996+279A>G - IntronicSNV - 6/11 4
1-55522425-G-A c.996+563G>A - IntronicSNV - 6/11 1
1-55522674-C-T c.997-330C>T - IntronicSNV - 6/11 2
1-55522739-T-TTCGG c.997-263_997-262insGGTC - IntronicInsertion - 6/11 1
1-55522869-C-T c.997-135C>T - IntronicSNV - 6/11 1
1-55523004-G-C c.997G>C p.V333L Missense 7/12 - 1
1-55523011-C-T c.1004C>T p.T335I Missense 7/12 - 1
1-55523016-G-A c.1009G>A p.G337R Missense 7/12 - 2
1-55523016-G-C c.1009G>C p.G337R Missense 7/12 - 1
1-55523017-G-A c.1010G>A p.G337E Missense 7/12 - 1
1-55523020-C-T c.1013C>T p.A338V Missense 7/12 - 2
1-55523023-C-T c.1016C>T p.T339I Missense 7/12 - 1
1-55523026-A-G c.1019A>G p.N340S Missense 7/12 - 1
1-55523027-T-C c.1020T>C p.N340= Synonymous 7/12 - 1
1-55523030-C-T c.1023C>T p.A341= Synonymous 7/12 - 1
1-55523033-A-C c.1026A>C p.Q342H Missense 7/12 - 1
1-55523033-A-G c.1026A>G p.Q342= Synonymous 7/12 - 27
1-55523033-A-T c.1026A>T p.Q342H Missense 7/12 - 6
1-55523034-G-C c.1027G>C p.D343H Missense 7/12 - 1
1-55523034-G-T c.1027G>T p.D343Y Missense 7/12 - 1
1-55523035-A-C c.1028A>C p.D343A Missense 7/12 - 1
1-55523035-A-G c.1028A>G p.D343G Missense 7/12 - 1
1-55523037-C-A c.1030C>A p.Q344K Missense 7/12 - 2
1-55523037-C-T c.1030C>T p.Q344* Nonsense 7/12 - 2
1-55523042-G-A c.1035G>A p.P345= Synonymous 7/12 - 1
1-55523042-G-C c.1035G>C p.P345= Synonymous 7/12 - 1
1-55523042-G-T c.1035G>T p.P345= Synonymous 7/12 - 1
1-55523044-T-C c.1037T>C p.V346A Missense 7/12 - 1
1-55523046-A-T c.1039A>T p.T347S Missense 7/12 - 1
1-55523047-C-G c.1040C>G p.T347S Missense 7/12 - 1
1-55523049-C-T c.1042C>T p.L348= Synonymous 7/12 - 1
1-55523051-G-A c.1044G>A p.L348= Synonymous 7/12 - 1
1-55523051-G-C c.1044G>C p.L348= Synonymous 7/12 - 1
1-55523051-G-T c.1044G>T p.L348= Synonymous 7/12 - 2
1-55523053-G-A c.1046G>A p.G349E Missense 7/12 - 2
1-55523054-G-A c.1047G>A p.G349= Synonymous 7/12 - 1
1-55523055-AC-GT c.1048_1049inv p.T350V Missense 7/12 - 1
1-55523055-A-G c.1048A>G p.T350A Missense 7/12 - 1
1-55523056-CT-TG c.1049_1050delinsTG p.T350M Missense 7/12 - 1
1-55523062-G-A c.1055G>A p.G352E Missense 7/12 - 2
1-55523068-A-GCGAGAGGTTTAG c.1061delinsGCGAGAGGTTTAG p.N354delinsSERFS MultiAAMissense 7/12 - 1
1-55523068-A-T c.1061A>T p.N354I Missense 7/12 - 9
1-55523073-G-C c.1066G>C p.G356R Missense 7/12 - 1
1-55523074-G-A c.1067G>A p.G356D Missense 7/12 - 1
1-55523076-C-T c.1069C>T p.R357C Missense 7/12 - 16
1-55523077-G-A c.1070G>A p.R357H Missense 7/12 - 14
1-55523077-G-T c.1070G>T p.R357L Missense 7/12 - 2
1-55523079-TG-GC c.1072_1073delinsGC p.C358A Missense 7/12 - 1
1-55523080-G-A c.1073G>A p.C358Y Missense 7/12 - 1
1-55523082-G-A c.1075G>A p.V359M Missense 7/12 - 2
1-55523084-G-A c.1077G>A p.V359= Synonymous 7/12 - 2
1-55523088-C-T c.1081C>T p.L361F Missense 7/12 - 1
1-55523089-T-A c.1082T>A p.L361H Missense 7/12 - 1
1-55523090-C-A c.1083C>A p.L361= Synonymous 7/12 - 1
1-55523090-C-G c.1083C>G p.L361= Synonymous 7/12 - 1
1-55523090-C-T c.1083C>T p.L361= Synonymous 7/12 - 1
1-55523094-G-A c.1087G>A p.A363T Missense 7/12 - 1
1-55523094-GCC-G c.1090_1091del p.P364Rfs*62 Frameshift 7/12 - 1
1-55523100-G-A c.1093G>A p.G365R Missense 7/12 - 1
1-55523100-G-C c.1093G>C p.G365R Missense 7/12 - 1
1-55523102-G-A c.1095G>A p.G365= Synonymous 7/12 - 2
1-55523103-G-A c.1096G>A p.E366K Missense 7/12 - 3
1-55523106-G-C c.1099G>C p.D367H Missense 7/12 - 2
1-55523106-G-T c.1099G>T p.D367Y Missense 7/12 - 1
1-55523107-A-C c.1100A>C p.D367A Missense 7/12 - 1
1-55523112-A-T c.1105A>T p.I369F Missense 7/12 - 1
1-55523112-AT-GC c.1105_1106delinsGC p.I369A Missense 7/12 - 1
1-55523118-G-T c.1111G>T p.A371S Missense 7/12 - 2
1-55523121-T-G c.1114T>G p.S372A Missense 7/12 - 1
1-55523125-G-T c.1118G>T p.S373I Missense 7/12 - 1
1-55523126-C-T c.1119C>T p.S373= Synonymous 7/12 - 4
1-55523127-G-A c.1120G>A p.D374N Missense 7/12 - 7
1-55523127-GAC-AAG c.1120_1122delinsAAG p.D374K Missense 7/12 - 1
1-55523127-GA-CC c.1120_1121delinsCC p.D374P Missense 7/12 - 1
1-55523127-GA-CT c.1120_1121delinsCT p.D374L Missense 7/12 - 1
1-55523127-G-C c.1120G>C p.D374H Missense 7/12 - 20
1-55523127-G-T c.1120G>T p.D374Y Missense 7/12 - 208
1-55523128-A-C c.1121A>C p.D374A Missense 7/12 - 2
1-55523128-A-G c.1121A>G p.D374G Missense 7/12 - 1
1-55523129-C-A c.1122C>A p.D374E Missense 7/12 - 1
1-55523129-C-G c.1122C>G p.D374E Missense 7/12 - 1
1-55523130-T-G c.1123T>G p.C375G Missense 7/12 - 3
1-55523133-A-G c.1126A>G p.S376G Missense 7/12 - 1
1-55523134-G-C c.1127G>C p.S376T Missense 7/12 - 1
1-55523134-G-T c.1127G>T p.S376I Missense 7/12 - 1
1-55523137-C-A c.1130C>A p.T377N Missense 7/12 - 1
1-55523138-C-T c.1131C>T p.T377= Synonymous 7/12 - 1
1-55523140-G-A c.1133G>A p.C378Y Missense 7/12 - 1
1-55523140-G-GATACACCGAATAGTTTCCGGTCTATCTCCC c.1133_1134insATACACCGAATAGTTTCCGGTCTATCTCCC p.C378delins* Nonsense 7/12 - 1
1-55523141-C-A c.1134C>A p.C378* Nonsense 7/12 - 2
1-55523141-C-G c.1134C>G p.C378W Missense 7/12 - 1
1-55523142-TT-GC c.1135_1136delinsGC p.F379A Missense 7/12 - 5
1-55523143-T-C c.1136T>C p.F379S Missense 7/12 - 1
1-55523146-T-C c.1139T>C p.V380A Missense 7/12 - 1
1-55523148-T-C c.1141T>C p.S381P Missense 7/12 - 2
1-55523148-T-G c.1141T>G p.S381A Missense 7/12 - 1
1-55523149-C-T c.1142C>T p.S381L Missense 7/12 - 1
1-55523151-CA-GC c.1144_1145delinsGC p.Q382A Missense 7/12 - 1
1-55523151-C-G c.1144C>G p.Q382E Missense 7/12 - 1
1-55523151-C-T c.1144C>T p.Q382* Nonsense 7/12 - 1
1-55523153-G-C c.1146G>C p.Q382H Missense 7/12 - 1
1-55523154-AG-GC c.1147_1148delinsGC p.S383A Missense 7/12 - 1
1-55523155-G-A c.1148G>A p.S383N Missense 7/12 - 1
1-55523158-G-A c.1151G>A p.G384E Missense 7/12 - 1
1-55523161-C-A c.1154C>A p.T385K Missense 7/12 - 1
1-55523161-C-T c.1154C>T p.T385I Missense 7/12 - 1
1-55523163-T-A c.1156T>A p.S386T Missense 7/12 - 1
1-55523163-T-G c.1156T>G p.S386A Missense 7/12 - 18
1-55523164-C-T c.1157C>T p.S386L Missense 7/12 - 1
1-55523166-C-T c.1159C>T p.Q387* Nonsense 7/12 - 4
1-55523171-T-A c.1164T>A p.A388= Synonymous 7/12 - 1
1-55523171-T-C c.1164T>C p.A388= Synonymous 7/12 - 1
1-55523171-T-G c.1164T>G p.A388= Synonymous 7/12 - 1
1-55523178-C-A c.1171C>A p.H391N Missense 7/12 - 9
1-55523181-G-A c.1174G>A p.V392M Missense 7/12 - 3
1-55523184-G-A c.1177G>A p.A393T Missense 7/12 - 1
1-55523187-G-A c.1180G>A p.G394S Missense 7/12 - 7
1-55523210-C-T c.1180+23C>T - IntronicSNV - 7/11 1
1-55523233-C-T c.1180+46C>T - IntronicSNV - 7/11 1
1-55523361-A-G c.1180+174A>G - IntronicSNV - 7/11 9
1-55523424-A-G c.1180+237A>G - IntronicSNV - 7/11 1
1-55523483-C-A c.1181-226C>A - IntronicSNV - 7/11 3
1-55523483-C-G c.1181-226C>G - IntronicSNV - 7/11 3
1-55523483-C-T c.1181-226C>T - IntronicSNV - 7/11 3
1-55523562-A-C c.1181-147A>C - IntronicSNV - 7/11 1
1-55523562-A-T c.1181-147A>T - IntronicSNV - 7/11 1
1-55523576-C-G c.1181-133C>G - IntronicSNV - 7/11 1
1-55523576-C-T c.1181-133C>T - IntronicSNV - 7/11 1
1-55523604-C-G c.1181-105C>G - IntronicSNV - 7/11 1
1-55523604-C-T c.1181-105C>T - IntronicSNV - 7/11 1
1-55523628-C-T c.1181-81C>T - IntronicSNV - 7/11 1
1-55523670-C-T c.1181-39C>T - IntronicSNV - 7/11 1
1-55523709-G-A c.1181G>A p.G394D Missense 8/12 - 1
1-55523709-G-T c.1181G>T p.G394V Missense 8/12 - 2
1-55523710-C-T c.1182C>T p.G394= Synonymous 8/12 - 1
1-55523714-G-T c.1186G>T p.A396S Missense 8/12 - 1
1-55523715-C-T c.1187C>T p.A396V Missense 8/12 - 1
1-55523718-C-T c.1190C>T p.A397V Missense 8/12 - 1
1-55523723-A-G c.1195A>G p.M399V Missense 8/12 - 1
1-55523726-C-T c.1198C>T p.L400= Synonymous 8/12 - 2
1-55523729-TCT-GAG c.1201_1203delinsGAG p.S401E Missense 8/12 - 1
1-55523729-T-G c.1201T>G p.S401A Missense 8/12 - 1
1-55523730-C-A c.1202C>A p.S401Y Missense 8/12 - 3
1-55523730-C-G c.1202C>G p.S401C Missense 8/12 - 2
1-55523732-G-T c.1204G>T p.A402S Missense 8/12 - 1
1-55523733-C-T c.1205C>T p.A402V Missense 8/12 - 3
1-55523734-C-G c.1206C>G p.A402= Synonymous 8/12 - 1
1-55523735-G-A c.1207G>A p.E403K Missense 8/12 - 4
1-55523738-C-A c.1210C>A p.P404T Missense 8/12 - 1
1-55523739-C-A c.1211C>A p.P404Q Missense 8/12 - 5
1-55523739-C-T c.1211C>T p.P404L Missense 8/12 - 3
1-55523740-G-A c.1212G>A p.P404= Synonymous 8/12 - 1
1-55523740-G-C c.1212G>C p.P404= Synonymous 8/12 - 1
1-55523740-G-T c.1212G>T p.P404= Synonymous 8/12 - 1
1-55523741-G-A c.1213G>A p.E405K Missense 8/12 - 1
1-55523744-C-G c.1216C>G p.L406V Missense 8/12 - 1
1-55523745-T-C c.1217T>C p.L406P Missense 8/12 - 1
1-55523749-C-T c.1221C>T p.T407= Synonymous 8/12 - 1
1-55523754-C-A c.1226C>A p.A409D Missense 8/12 - 1
1-55523755-C-T c.1227C>T p.A409= Synonymous 8/12 - 1
1-55523756-G-A c.1228G>A p.E410K Missense 8/12 - 2
1-55523759-T-G c.1231T>G p.L411V Missense 8/12 - 1
1-55523760-T-C c.1232T>C p.L411S Missense 8/12 - 2
1-55523761-G-A c.1233G>A p.L411= Synonymous 8/12 - 1
1-55523762-AGG-TGT c.1234_1236delinsTGT p.R412C Missense 8/12 - 1
1-55523766-A-T c.1238A>T p.Q413L Missense 8/12 - 1
1-55523769-G-A c.1241G>A p.R414K Missense 8/12 - 1
1-55523768-A-C c.1240A>C p.R414= Synonymous 8/12 - 1
1-55523770-A-G c.1242A>G p.R414= Synonymous 8/12 - 1
1-55523771-C-T c.1243C>T p.L415= Synonymous 8/12 - 1
1-55523773-G-A c.1245G>A p.L415= Synonymous 8/12 - 2
1-55523773-G-C c.1245G>C p.L415= Synonymous 8/12 - 1
1-55523773-G-T c.1245G>T p.L415= Synonymous 8/12 - 1
1-55523775-T-C c.1247T>C p.I416T Missense 8/12 - 1
1-55523779-C-A c.1251C>A p.H417Q Missense 8/12 - 9
1-55523779-C-G c.1251C>G p.H417Q Missense 8/12 - 3
1-55523780-T-C c.1252T>C p.F418L Missense 8/12 - 1
1-55523782-C-A c.1254C>A p.F418L Missense 8/12 - 1
1-55523782-C-G c.1254C>G p.F418L Missense 8/12 - 1
1-55523785-T-A c.1257T>A p.S419= Synonymous 8/12 - 1
1-55523785-T-C c.1257T>C p.S419= Synonymous 8/12 - 1
1-55523785-T-G c.1257T>G p.S419= Synonymous 8/12 - 1
1-55523787-C-T c.1259C>T p.A420V Missense 8/12 - 1
1-55523791-A-AT c.1263_1264insT p.D422* Nonsense 8/12 - 1
1-55523792-G-A c.1264G>A p.D422N Missense 8/12 - 1
1-55523798-A-G c.1270A>G p.I424V Missense 8/12 - 6
1-55523802-A-G c.1274A>G p.N425S Missense 8/12 - 21
1-55523804-G-A c.1276G>A p.E426K Missense 8/12 - 1
1-55523806-G-T c.1278G>T p.E426D Missense 8/12 - 1
1-55523809-C-A c.1281C>A p.A427= Synonymous 8/12 - 1
1-55523809-C-G c.1281C>G p.A427= Synonymous 8/12 - 1
1-55523809-C-T c.1281C>T p.A427= Synonymous 8/12 - 1
1-55523811-G-A c.1283G>A p.W428* Nonsense 8/12 - 4
1-55523812-G-A c.1284G>A p.W428* Nonsense 8/12 - 5
1-55523815-C-A c.1287C>A p.F429L Missense 8/12 - 1
1-55523816-C-T c.1288C>T p.P430S Missense 8/12 - 1
1-55523819-G-A c.1291G>A p.E431K Missense 8/12 - 2
1-55523819-G-T c.1291G>T p.E431* Nonsense 8/12 - 1
1-55523822-G-A c.1294G>A p.D432N Missense 8/12 - 3
1-55523824-C-T c.1296C>T p.D432= Synonymous 8/12 - 1
1-55523828-C-T c.1300C>T p.R434W Missense 8/12 - 16
1-55523829-G-A c.1301G>A p.R434Q Missense 8/12 - 2
1-55523828-CG-C c.1303del p.V435Yfs*2 Frameshift 8/12 - 1
1-55523831-G-T c.1303G>T p.V435L Missense 8/12 - 1
1-55523835-T-C c.1307T>C p.L436P Missense 8/12 - 1
1-55523834-C-T c.1306C>T p.L436= Synonymous 8/12 - 1
1-55523836-G-A c.1308G>A p.L436= Synonymous 8/12 - 1
1-55523836-G-C c.1308G>C p.L436= Synonymous 8/12 - 1
1-55523836-G-T c.1308G>T p.L436= Synonymous 8/12 - 1
1-55523842-C-A c.1314C>A p.P438= Synonymous 8/12 - 1
1-55523842-C-G c.1314C>G p.P438= Synonymous 8/12 - 2
1-55523842-C-T c.1314C>T p.P438= Synonymous 8/12 - 2
1-55523842-CA-C c.1316del p.N439Tfs*46 Frameshift 8/12 - 1
1-55523845-C-A c.1317C>A p.N439K Missense 8/12 - 1
1-55523845-C-G c.1317C>G p.N439K Missense 8/12 - 1
1-55523848-G-A c.1320G>A p.L440= Synonymous 8/12 - 1
1-55523849-GTG-ATC c.1321_1323delinsATC p.V441I Missense 8/12 - 1
1-55523852-G-A c.1324G>A p.A442T Missense 8/12 - 1
1-55523854-C-A c.1326C>A p.A442= Synonymous 8/12 - 1
1-55523854-C-G c.1326C>G p.A442= Synonymous 8/12 - 1
1-55523854-C-T c.1326C>T p.A442= Synonymous 8/12 - 5
1-55523851-GGCCGCCCT-G c.1327_1334del p.A443Pfs*36 Frameshift 8/12 - 1
1-55523855-G-A c.1327G>A p.A443T Missense 8/12 - 44
1-55523855-G-C c.1327G>C p.A443P Missense 8/12 - 3
1-55523855-G-T c.1327G>T p.A443S Missense 8/12 - 1
1-55523859-T-C c.1331T>C p.L444P Missense 8/12 - 2
1-55523861-C-G c.1333C>G p.P445A Missense 8/12 - 1
1-55523862-C-T c.1334C>T p.P445L Missense 8/12 - 3
1-55523864-C-T c.1336C>T p.P446S Missense 8/12 - 2
1-55523865-C-A c.1337C>A p.P446H Missense 8/12 - 1
1-55523865-C-T c.1337C>T p.P446L Missense 8/12 - 11
1-55523867-AGC-TGA c.1339_1341delinsTGA p.S447* Nonsense 8/12 - 28
1-55523869-C-A c.1341C>A p.S447R Missense 8/12 - 1
1-55523879-G-A c.1351G>A p.A451T Missense 8/12 - 1
1-55523884-T-G c.1354+2T>G - IntronicSNV - 8/11 1
1-55523891-G-T c.1354+9G>T - IntronicSNV - 8/11 2
1-55523910-C-A c.1354+28C>A - IntronicSNV - 8/11 1
1-55523949-C-T c.1354+67C>T - IntronicSNV - 8/11 1
1-55523960-C-A c.1354+78C>A - IntronicSNV - 8/11 1
1-55523984-C-T c.1354+102C>T - IntronicSNV - 8/11 10
1-55524084-C-A c.1355-88C>A - IntronicSNV - 8/11 1
1-55524085-C-T c.1355-87C>T - IntronicSNV - 8/11 1
1-55524116-C-A c.1355-56C>A - IntronicSNV - 8/11 18
1-55524116-C-G c.1355-56C>G - IntronicSNV - 8/11 18
1-55524116-C-T c.1355-56C>T - IntronicSNV - 8/11 18
1-55524156-C-G c.1355-16C>G - IntronicSNV - 8/11 1
1-55524172-G-A c.1355G>A p.G452D Missense 9/12 - 4
1-55524176-G-T c.1359G>T p.W453C Missense 9/12 - 1
1-55524180-CT-TA c.1363_1364delinsTA p.L455* Nonsense 9/12 - 6
1-55524180-C-T c.1363C>T p.L455= Synonymous 9/12 - 1
1-55524182-G-A c.1365G>A p.L455= Synonymous 9/12 - 1
1-55524182-G-C c.1365G>C p.L455= Synonymous 9/12 - 1
1-55524182-G-T c.1365G>T p.L455= Synonymous 9/12 - 2
1-55524183-TT-GC c.1366_1367delinsGC p.F456A Missense 9/12 - 1
1-55524187-G-A c.1370G>A p.C457Y Missense 9/12 - 1
1-55524188-C-G c.1371C>G p.C457W Missense 9/12 - 1
1-55524191-G-A c.1374G>A p.R458= Synonymous 9/12 - 1
1-55524192-A-G c.1375A>G p.T459A Missense 9/12 - 1
1-55524195-TG-T c.1378del p.V460Yfs*25 Frameshift 9/12 - 1
1-55524196-T-C c.1379T>C p.V460A Missense 9/12 - 1
1-55524197-A-C c.1380A>C p.V460= Synonymous 9/12 - 39
1-55524197-A-G c.1380A>G p.V460= Synonymous 9/12 - 44
1-55524197-A-T c.1380A>T p.V460= Synonymous 9/12 - 4
1-55524198-TG-GC c.1381_1382delinsGC p.W461A Missense 9/12 - 1
1-55524200-G-C c.1383G>C p.W461C Missense 9/12 - 1
1-55524200-G-T c.1383G>T p.W461C Missense 9/12 - 1
1-55524201-T-C c.1384T>C p.S462P Missense 9/12 - 16
1-55524208-A-G c.1391A>G p.H464R Missense 9/12 - 1
1-55524211-C-T c.1394C>T p.S465L Missense 9/12 - 10
1-55524212-G-A c.1395G>A p.S465= Synonymous 9/12 - 2
1-55524212-G-C c.1395G>C p.S465= Synonymous 9/12 - 1
1-55524212-G-T c.1395G>T p.S465= Synonymous 9/12 - 1
1-55524213-G-A c.1396G>A p.G466R Missense 9/12 - 1
1-55524214-G-A c.1397G>A p.G466E Missense 9/12 - 2
1-55524216-C-G c.1399C>G p.P467A Missense 9/12 - 7
1-55524216-GCC-G c.1399_1400del p.P467Yfs*14 Frameshift 9/12 - 1
1-55524217-C-G c.1400C>G p.P467R Missense 9/12 - 1
1-55524218-T-A c.1401T>A p.P467= Synonymous 9/12 - 1
1-55524218-T-C c.1401T>C p.P467= Synonymous 9/12 - 1
1-55524218-T-G c.1401T>G p.P467= Synonymous 9/12 - 1
1-55524219-A-G c.1402A>G p.T468A Missense 9/12 - 2
1-55524220-AC-A c.1403del p.T468Nfs*17 Frameshift 9/12 - 1
1-55524222-C-T c.1405C>T p.R469W Missense 9/12 - 31
1-55524223-G-A c.1406G>A p.R469Q Missense 9/12 - 1
1-55524224-G-A c.1407G>A p.R469= Synonymous 9/12 - 1
1-55524224-G-T c.1407G>T p.R469= Synonymous 9/12 - 1
1-55524228-G-T c.1411G>T p.A471S Missense 9/12 - 1
1-55524237-G-A c.1420G>A p.V474I Missense 9/12 - 100
1-55524239-C-A c.1422C>A p.V474= Synonymous 9/12 - 3
1-55524239-C-G c.1422C>G p.V474= Synonymous 9/12 - 3
1-55524239-C-T c.1422C>T p.V474= Synonymous 9/12 - 5
1-55524240-G-A c.1423G>A p.A475T Missense 9/12 - 6
1-55524243-C-A c.1426C>A p.R476S Missense 9/12 - 1
1-55524243-CG-GC c.1426_1427delinsGC p.R476A Missense 9/12 - 1
1-55524243-C-T c.1426C>T p.R476C Missense 9/12 - 8
1-55524244-G-A c.1427G>A p.R476H Missense 9/12 - 3
1-55524247-G-A c.1430G>A p.C477Y Missense 9/12 - 1
1-55524248-C-T c.1431C>T p.C477= Synonymous 9/12 - 5
1-55524249-G-A c.1432G>A p.A478T Missense 9/12 - 2
1-55524253-C-T c.1436C>T p.P479L Missense 9/12 - 2
1-55524255-G-A c.1438G>A p.D480N Missense 9/12 - 2
1-55524255-G-C c.1438G>C p.D480H Missense 9/12 - 1
1-55524256-A-C c.1439A>C p.D480A Missense 9/12 - 1
1-55524256-A-G c.1439A>G p.D480G Missense 9/12 - 1
1-55524259-A-C c.1442A>C p.E481A Missense 9/12 - 1
1-55524260-G-A c.1443G>A p.E481= Synonymous 9/12 - 1
1-55524261-G-A c.1444G>A p.E482K Missense 9/12 - 1
1-55524261-GA-AG c.1444_1445delinsAG p.E482R Missense 9/12 - 1
1-55524261-G-C c.1444G>C p.E482Q Missense 9/12 - 1
1-55524262-A-G c.1445A>G p.E482G Missense 9/12 - 8
1-55524269-G-GT c.1452_1453insT p.S485* Nonsense 9/12 - 1
1-55524272-C-A c.1455C>A p.S485R Missense 9/12 - 1
1-55524280-G-A c.1463G>A p.S488N Missense 9/12 - 1
1-55524283-T-C c.1466T>C p.F489S Missense 9/12 - 1
1-55524288-AG-GC c.1471_1472delinsGC p.R491A Missense 9/12 - 1
1-55524290-G-C c.1473G>C p.R491S Missense 9/12 - 1
1-55524290-G-T c.1473G>T p.R491S Missense 9/12 - 1
1-55524296-G-A c.1479G>A p.G493= Synonymous 9/12 - 1
1-55524296-G-C c.1479G>C p.G493= Synonymous 9/12 - 1
1-55524296-G-T c.1479G>T p.G493= Synonymous 9/12 - 1
1-55524300-C-T c.1483C>T p.R495W Missense 9/12 - 2
1-55524301-G-A c.1484G>A p.R495Q Missense 9/12 - 2
1-55524301-G-T c.1484G>T p.R495L Missense 9/12 - 2
1-55524302-G-A c.1485G>A p.R495= Synonymous 9/12 - 1
1-55524303-C-A c.1486C>A p.R496= Synonymous 9/12 - 1
1-55524303-C-G c.1486C>G p.R496G Missense 9/12 - 1
1-55524303-C-T c.1486C>T p.R496W Missense 9/12 - 40
1-55524305-G-A c.1488G>A p.R496= Synonymous 9/12 - 1
1-55524305-G-C c.1488G>C p.R496= Synonymous 9/12 - 1
1-55524305-G-T c.1488G>T p.R496= Synonymous 9/12 - 1
1-55524304-G-A c.1487G>A p.R496Q Missense 9/12 - 7
1-55524308-C-T c.1491C>T p.G497= Synonymous 9/12 - 1
1-55524309-G-A c.1492G>A p.E498K Missense 9/12 - 6
1-55524309-G-T c.1492G>T p.E498* Nonsense 9/12 - 1
1-55524310-A-C c.1493A>C p.E498A Missense 9/12 - 1
1-55524311-G-A c.1494G>A p.E498= Synonymous 9/12 - 1
1-55524312-C-G c.1495C>G p.R499G Missense 9/12 - 1
1-55524312-C-T c.1495C>T p.R499C Missense 9/12 - 2
1-55524313-G-A c.1496G>A p.R499H Missense 9/12 - 11
1-55524313-G-C c.1496G>C p.R499P Missense 9/12 - 2
1-55524313-G-T c.1496G>T p.R499L Missense 9/12 - 1
1-55524320-G-A c.1503G>A p.E501= Synonymous 9/12 - 3
1-55524322-T-C c.1503+2T>C - IntronicSNV - 9/11 1
1-55524333-CTCCT-C c.1503+16_1503+19del - IntronicDeletion - 9/11 1
1-55524336-CTTCGTGTGTGTGTG-C c.1503+18_1503+31del - IntronicDeletion - 9/11 1
1-55524340-CG-C c.1503+20del - IntronicDeletion - 9/11 1
1-55524340-CGTG-C c.1503+20_1503+22del - IntronicDeletion - 9/11 1
1-55524340-CGTGTG-C c.1503+20_1503+24del - IntronicDeletion - 9/11 1
1-55524340-CGTGTGTG-C c.1503+20_1503+26del - IntronicDeletion - 9/11 1
1-55524340-CGTGTGTGTG-C c.1503+20_1503+28del - IntronicDeletion - 9/11 1
1-55524340-CGTGTGTGTGTG-C c.1503+20_1503+30del - IntronicDeletion - 9/11 1
1-55524340-CGTGTGTGTGTGTG-C c.1503+20_1503+32del - IntronicDeletion - 9/11 1
1-55524340-G-A c.1503+20G>A - IntronicSNV - 9/11 1
1-55524341-GT-G c.1503+21del - IntronicDeletion - 9/11 1
1-55524341-GTGTGTGTGTGT-G c.1503+21_1503+31del - IntronicDeletion - 9/11 1
1-55524341-GTGTGTGTGTGTGT-G c.1503+21_1503+33del - IntronicDeletion - 9/11 1
1-55524342-TG-T c.1503+22del - IntronicDeletion - 9/11 1
1-55524343-GT-G c.1503+23del - IntronicDeletion - 9/11 1
1-55524343-GTGTGTGTGT-G c.1503+23_1503+31del - IntronicDeletion - 9/11 1
1-55524343-GTGTGTGTGTGT-G c.1503+23_1503+33del - IntronicDeletion - 9/11 1
1-55524343-GTGTGTGTGTGTGT-G c.1503+23_1503+35del - IntronicDeletion - 9/11 1
1-55524343-GTGTGTGTGTGTGTGT-G c.1503+23_1503+37del - IntronicDeletion - 9/11 1
1-55524344-TG-T c.1503+24del - IntronicDeletion - 9/11 1
1-55524344-TGTG-T c.1503+24_1503+26del - IntronicDeletion - 9/11 1
1-55524345-GT-G c.1503+25del - IntronicDeletion - 9/11 1
1-55524345-GTGT-G c.1503+25_1503+27del - IntronicDeletion - 9/11 1
1-55524345-GTGTGT-G c.1503+25_1503+29del - IntronicDeletion - 9/11 1
1-55524345-GTGTGTGT-G c.1503+25_1503+31del - IntronicDeletion - 9/11 1
1-55524345-GTGTGTGTGT-G c.1503+25_1503+33del - IntronicDeletion - 9/11 1
1-55524346-TG-T c.1503+26del - IntronicDeletion - 9/11 1
1-55524347-GT-G c.1503+27del - IntronicDeletion - 9/11 1
1-55524347-GTGTGT-G c.1503+27_1503+31del - IntronicDeletion - 9/11 1
1-55524347-GTGTGTGT-G c.1503+27_1503+33del - IntronicDeletion - 9/11 1
1-55524348-TG-T c.1503+28del - IntronicDeletion - 9/11 1
1-55524348-TGTG-T c.1503+28_1503+30del - IntronicDeletion - 9/11 1
1-55524348-TGTGTG-T c.1503+28_1503+32del - IntronicDeletion - 9/11 1
1-55524349-GT-G c.1503+29del - IntronicDeletion - 9/11 1
1-55524349-GTGT-G c.1503+29_1503+31del - IntronicDeletion - 9/11 1
1-55524349-GTGTGT-G c.1503+29_1503+33del - IntronicDeletion - 9/11 1
1-55524349-GTGTGTGT-G c.1503+29_1503+35del - IntronicDeletion - 9/11 1
1-55524349-GTGTGTGTGT-G c.1503+29_1503+37del - IntronicDeletion - 9/11 1
1-55524349-T-C c.1503+29T>C - IntronicSNV - 9/11 1
1-55524350-TG-T c.1503+30del - IntronicDeletion - 9/11 1
1-55524351-GT-G c.1503+31del - IntronicDeletion - 9/11 1
1-55524351-GTGT-G c.1503+31_1503+33del - IntronicDeletion - 9/11 1
1-55524351-GTGTGTGT-G c.1503+31_1503+37del - IntronicDeletion - 9/11 1
1-55524352-TG-T c.1503+32del - IntronicDeletion - 9/11 1
1-55524353-GT-G c.1503+33del - IntronicDeletion - 9/11 1
1-55524355-GT-G c.1503+35del - IntronicDeletion - 9/11 1
1-55524355-GTGT-G c.1503+35_1503+37del - IntronicDeletion - 9/11 1
1-55524357-GT-G c.1503+37del - IntronicDeletion - 9/11 1
1-55524363-T-C c.1503+43T>C - IntronicSNV - 9/11 1
1-55524365-T-C c.1503+45T>C - IntronicSNV - 9/11 1
1-55524369-T-C c.1503+49T>C - IntronicSNV - 9/11 1
1-55524370-G-A c.1503+50G>A - IntronicSNV - 9/11 1
1-55524371-T-A c.1503+51T>A - IntronicSNV - 9/11 1
1-55524371-T-C c.1503+51T>C - IntronicSNV - 9/11 2
1-55524373-T-C c.1503+53T>C - IntronicSNV - 9/11 2
1-55524339-CGTGTGTGTGTGTGTGTGT-C c.1503+54_1503+71del - IntronicDeletion - 9/11 1
1-55524374-TGTGTGTG-T c.1503+54_1503+60del - IntronicDeletion - 9/11 1
1-55524375-T-C c.1503+55T>C - IntronicSNV - 9/11 1
1-55524339-CGTGTGTGTGTGTGTGT-C c.1503+56_1503+71del - IntronicDeletion - 9/11 3
1-55524339-CGTGTGTGTGTGTGT-C c.1503+58_1503+71del - IntronicDeletion - 9/11 1
1-55524379-GTGTGTGTGTGTGTC-G c.1503+59_1503+72del - IntronicDeletion - 9/11 1
1-55524339-CGTGTGTGTGTGT-C c.1503+60_1503+71del - IntronicDeletion - 9/11 1
1-55524339-CGTGTGTGTGT-C c.1503+62_1503+71del - IntronicDeletion - 9/11 1
1-55524339-CGTGTGTGT-C c.1503+64_1503+71del - IntronicDeletion - 9/11 1
1-55524385-T-C c.1503+65T>C - IntronicSNV - 9/11 1
1-55524339-CGTGTGT-C c.1503+66_1503+71del - IntronicDeletion - 9/11 1
1-55524387-GT-G c.1503+67del - IntronicDeletion - 9/11 1
1-55524387-T-C c.1503+67T>C - IntronicSNV - 9/11 4
1-55524339-CGTGT-C c.1503+68_1503+71del - IntronicDeletion - 9/11 1
1-55524339-CGT-C c.1503+70_1503+71del - IntronicDeletion - 9/11 1
1-55524396-G-A c.1503+76G>A - IntronicSNV - 9/11 1
1-55524436-C-T c.1503+116C>T - IntronicSNV - 9/11 1
1-55524476-ACC-A c.1503+156_1503+157del - IntronicDeletion - 9/11 1
1-55524482-G-A c.1503+162G>A - IntronicSNV - 9/11 1
1-55524503-G-A c.1503+183G>A - IntronicSNV - 9/11 1
1-55524552-G-A c.1503+232G>A - IntronicSNV - 9/11 1
1-55524553-C-T c.1503+233C>T - IntronicSNV - 9/11 1
1-55524564-T-G c.1503+244T>G - IntronicSNV - 9/11 1
1-55524601-G-A c.1503+281G>A - IntronicSNV - 9/11 5
1-55524601-G-C c.1503+281G>C - IntronicSNV - 9/11 5
1-55524816-G-A c.1504-343G>A - IntronicSNV - 9/11 1
1-55524842-G-A c.1504-317G>A - IntronicSNV - 9/11 7
1-55525143-C-T c.1504-16C>T - IntronicSNV - 9/11 2
1-55525159-GCCCAAGGGGGCAAGCTGGTCTGCCGGGCCCA-G c.1506_1536del p.Q503Tfs*67 SpliceAcceptorDeletion 10/12 - 1
1-55525159-GC-G c.1507del p.Q503Kfs*77 Frameshift 10/12 - 1
1-55525165-G-T c.1510G>T p.G504W Missense 10/12 - 1
1-55525169-G-A c.1514G>A p.G505D Missense 10/12 - 1
1-55525170-C-CT c.1515_1516insT p.K506* Nonsense 10/12 - 1
1-55525174-C-G c.1519C>G p.L507V Missense 10/12 - 1
1-55525183-CGG-TGT c.1528_1530delinsTGT p.R510C Missense 10/12 - 1
1-55525183-C-T c.1528C>T p.R510W Missense 10/12 - 1
1-55525186-G-A c.1531G>A p.A511T Missense 10/12 - 1
1-55525186-G-C c.1531G>C p.A511P Missense 10/12 - 1
1-55525192-A-G c.1537A>G p.N513D Missense 10/12 - 3
1-55525193-A-G c.1538A>G p.N513S Missense 10/12 - 1
1-55525194-C-A c.1539C>A p.N513K Missense 10/12 - 1
1-55525194-C-G c.1539C>G p.N513K Missense 10/12 - 1
1-55525194-C-T c.1539C>T p.N513= Synonymous 10/12 - 1
1-55525195-G-A c.1540G>A p.A514T Missense 10/12 - 10
1-55525198-T-C c.1543T>C p.F515L Missense 10/12 - 4
1-55525198-TT-GC c.1543_1544delinsGC p.F515A Missense 10/12 - 1
1-55525200-T-A c.1545T>A p.F515L Missense 10/12 - 4
1-55525200-T-G c.1545T>G p.F515L Missense 10/12 - 8
1-55525201-G-C c.1546G>C p.G516R Missense 10/12 - 1
1-55525201-GGG-AGC c.1546_1548delinsAGC p.G516S Missense 10/12 - 1
1-55525202-G-A c.1547G>A p.G516E Missense 10/12 - 1
1-55525202-G-T c.1547G>T p.G516V Missense 10/12 - 4
1-55525203-G-A c.1548G>A p.G516= Synonymous 10/12 - 4
1-55525204-G-A c.1549G>A p.G517S Missense 10/12 - 1
1-55525204-G-C c.1549G>C p.G517R Missense 10/12 - 1
1-55525207-G-A c.1552G>A p.E518K Missense 10/12 - 1
1-55525211-G-A c.1556G>A p.G519D Missense 10/12 - 1
1-55525213-G-T c.1558G>T p.V520F Missense 10/12 - 1
1-55525215-C-T c.1560C>T p.V520= Synonymous 10/12 - 1
1-55525219-G-A c.1564G>A p.A522T Missense 10/12 - 7
1-55525220-C-T c.1565C>T p.A522V Missense 10/12 - 3
1-55525223-T-C c.1568T>C p.I523T Missense 10/12 - 1
1-55525226-C-A c.1571C>A p.A524D Missense 10/12 - 1
1-55525226-C-T c.1571C>T p.A524V Missense 10/12 - 1
1-55525228-AG-CA c.1573_1574delinsCA p.R525Q Missense 10/12 - 1
1-55525228-A-T c.1573A>T p.R525W Missense 10/12 - 1
1-55525229-G-C c.1574G>C p.R525T Missense 10/12 - 1
1-55525236-C-T c.1581C>T p.C527= Synonymous 10/12 - 1
1-55525240-C-A c.1585C>A p.L529I Missense 10/12 - 1
1-55525246-C-CT c.1591_1592insT p.Q531Lfs*13 Frameshift 10/12 - 1
1-55525246-C-T c.1591C>T p.Q531* Nonsense 10/12 - 1
1-55525252-AA-GC c.1597_1598delinsGC p.N533A Missense 10/12 - 2
1-55525246-CAGGCCAACTGCAGCGTCCACACAGCTCCACCAGCTG-C c.1598_1633del p.N533_A544del InFrameDeletion 10/12 - 1
1-55525254-C-T c.1599C>T p.N533= Synonymous 10/12 - 1
1-55525256-G-A c.1601G>A p.C534Y Missense 10/12 - 1
1-55525258-AG-GC c.1603_1604delinsGC p.S535A Missense 10/12 - 1
1-55525259-G-A c.1604G>A p.S535N Missense 10/12 - 1
1-55525260-C-T c.1605C>T p.S535= Synonymous 10/12 - 1
1-55525261-G-A c.1606G>A p.V536I Missense 10/12 - 4
1-55525264-CA-GC c.1609_1610delinsGC p.H537A Missense 10/12 - 1
1-55525267-A-G c.1612A>G p.T538A Missense 10/12 - 1
1-55525269-A-C c.1614A>C p.T538= Synonymous 10/12 - 1
1-55525269-A-G c.1614A>G p.T538= Synonymous 10/12 - 1
1-55525269-A-T c.1614A>T p.T538= Synonymous 10/12 - 1
1-55525273-C-G c.1618C>G p.P540A Missense 10/12 - 1
1-55525276-C-T c.1621C>T p.P541S Missense 10/12 - 2
1-55525285-G-A c.1630G>A p.A544T Missense 10/12 - 1
1-55525298-C-A c.1643C>A p.T548N Missense 10/12 - 1
1-55525298-C-T c.1643C>T p.T548I Missense 10/12 - 1
1-55525299-C-T c.1644C>T p.T548= Synonymous 10/12 - 3
1-55525300-CG-GC c.1645_1646delinsGC p.R549A Missense 10/12 - 2
1-55525300-CGT-TGG c.1645_1647delinsTGG p.R549W Missense 10/12 - 1
1-55525300-C-T c.1645C>T p.R549C Missense 10/12 - 1
1-55525301-G-A c.1646G>A p.R549H Missense 10/12 - 2
1-55525301-G-T c.1646G>T p.R549L Missense 10/12 - 1
1-55525304-T-C c.1649T>C p.V550A Missense 10/12 - 1
1-55525306-CA-GC c.1651_1652delinsGC p.H551A Missense 10/12 - 1
1-55525312-CA-GC c.1657_1658delinsGC p.H553A Missense 10/12 - 1
1-55525312-C-T c.1657C>T p.H553Y Missense 10/12 - 1
1-55525313-A-G c.1658A>G p.H553R Missense 10/12 - 20
1-55525314-C-T c.1659C>T p.H553= Synonymous 10/12 - 1
1-55525315-C-A c.1660C>A p.Q554K Missense 10/12 - 4
1-55525315-C-G c.1660C>G p.Q554E Missense 10/12 - 16
1-55525318-C-T c.1663C>T p.Q555* Nonsense 10/12 - 1
1-55525321-G-A c.1666G>A p.G556S Missense 10/12 - 1
1-55525324-CA-GC c.1669_1670delinsGC p.H557A Missense 10/12 - 1
1-55525331-T-C c.1676T>C p.L559P Missense 10/12 - 1
1-55525332-C-CCTT c.1677_1678insCTT p.L559dup InFrameInsertion 10/12 - 1
1-55525334-C-T c.1679C>T p.T560I Missense 10/12 - 1
1-55525335-A-C c.1680A>C p.T560= Synonymous 10/12 - 1
1-55525335-A-G c.1680A>G p.T560= Synonymous 10/12 - 1
1-55525335-A-T c.1680A>T p.T560= Synonymous 10/12 - 2
1-55525336-G-A c.1681G>A p.G561S Missense 10/12 - 1
1-55525353-G-A c.1681+17G>A - IntronicSNV - 10/11 1
1-55525366-G-A c.1681+30G>A - IntronicSNV - 10/11 2
1-55525399-C-T c.1681+63C>T - IntronicSNV - 10/11 2
1-55525400-G-A c.1681+64G>A - IntronicSNV - 10/11 13
1-55525417-C-T c.1681+81C>T - IntronicSNV - 10/11 1
1-55525440-G-A c.1681+104G>A - IntronicSNV - 10/11 1
1-55525452-G-A c.1681+116G>A - IntronicSNV - 10/11 1
1-55525474-C-T c.1681+138C>T - IntronicSNV - 10/11 1
1-55525477-C-T c.1681+141C>T - IntronicSNV - 10/11 1
1-55525726-T-A c.1681+390T>A - IntronicSNV - 10/11 4
1-55525726-T-G c.1681+390T>G - IntronicSNV - 10/11 4
1-55525768-G-A c.1681+432G>A - IntronicSNV - 10/11 1
1-55525850-C-T c.1681+514C>T - IntronicSNV - 10/11 1
1-55525868-C-T c.1681+532C>T - IntronicSNV - 10/11 3
1-55525944-G-A c.1681+608G>A - IntronicSNV - 10/11 1
1-55526296-A-C c.1682-752A>C - IntronicSNV - 10/11 9
1-55526296-A-G c.1682-752A>G - IntronicSNV - 10/11 9
1-55526428-T-C c.1682-620T>C - IntronicSNV - 10/11 6
1-55526428-T-G c.1682-620T>G - IntronicSNV - 10/11 6
1-55526685-G-A c.1682-363G>A - IntronicSNV - 10/11 5
1-55526981-T-C c.1682-67T>C - IntronicSNV - 10/11 1
1-55527000-C-T c.1682-48C>T - IntronicSNV - 10/11 1
1-55527014-A-G c.1682-34A>G - IntronicSNV - 10/11 1
1-55527048-G-A c.1682G>A p.G561D Missense 11/12 - 1
1-55527051-G-A c.1685G>A p.C562Y Missense 11/12 - 1
1-55527054-G-GC c.1689dup p.S564Lfs*147 Frameshift 11/12 - 1
1-55527059-C-T c.1693C>T p.H565Y Missense 11/12 - 1
1-55527062-T-C c.1696T>C p.W566R Missense 11/12 - 1
1-55527066-A-C c.1700A>C p.E567A Missense 11/12 - 2
1-55527067-G-A c.1701G>A p.E567= Synonymous 11/12 - 1
1-55527071-G-C c.1705G>C p.E569Q Missense 11/12 - 2
1-55527073-G-C c.1707G>C p.E569D Missense 11/12 - 1
1-55527073-G-T c.1707G>T p.E569D Missense 11/12 - 1
1-55527078-T-C c.1712T>C p.L571P Missense 11/12 - 1
1-55527082-C-A c.1716C>A p.G572= Synonymous 11/12 - 1
1-55527082-C-G c.1716C>G p.G572= Synonymous 11/12 - 1
1-55527082-C-T c.1716C>T p.G572= Synonymous 11/12 - 2
1-55527083-A-C c.1717A>C p.T573P Missense 11/12 - 1
1-55527086-CA-GC c.1720_1721delinsGC p.H574A Missense 11/12 - 1
1-55527089-A-G c.1723A>G p.K575E Missense 11/12 - 1
1-55527093-C-T c.1727C>T p.P576L Missense 11/12 - 4
1-55527094-G-A c.1728G>A p.P576= Synonymous 11/12 - 1
1-55527094-G-C c.1728G>C p.P576= Synonymous 11/12 - 1
1-55527094-G-T c.1728G>T p.P576= Synonymous 11/12 - 1
1-55527095-C-T c.1729C>T p.P577S Missense 11/12 - 2
1-55527096-C-A c.1730C>A p.P577H Missense 11/12 - 1
1-55527098-G-A c.1732G>A p.V578M Missense 11/12 - 1
1-55527099-T-A c.1733T>A p.V578E Missense 11/12 - 2
1-55527099-T-C c.1733T>C p.V578A Missense 11/12 - 1
1-55527101-C-A c.1735C>A p.L579M Missense 11/12 - 1
1-55527103-G-T c.1737G>T p.L579= Synonymous 11/12 - 1
1-55527104-AG-GC c.1738_1739delinsGC p.R580A Missense 11/12 - 1
1-55527104-AG-TA c.1738_1739delinsTA p.R580* Nonsense 11/12 - 1
1-55527105-G-C c.1739G>C p.R580T Missense 11/12 - 1
1-55527107-C-G c.1741C>G p.P581A Missense 11/12 - 1
1-55527107-C-T c.1741C>T p.P581S Missense 11/12 - 1
1-55527110-C-G c.1744C>G p.R582G Missense 11/12 - 1
1-55527110-C-T c.1744C>T p.R582* Nonsense 11/12 - 4
1-55527111-G-A c.1745G>A p.R582Q Missense 11/12 - 3
1-55527111-G-T c.1745G>T p.R582L Missense 11/12 - 5
1-55527116-C-G c.1750C>G p.Q584E Missense 11/12 - 1
1-55527122-A-G c.1756A>G p.N586D Missense 11/12 - 2
1-55527125-C-A c.1759C>A p.Q587K Missense 11/12 - 1
1-55527128-TG-AC c.1762_1763delinsAC p.C588T Missense 11/12 - 1
1-55527130-C-T c.1764C>T p.C588= Synonymous 11/12 - 1
1-55527131-G-A c.1765G>A p.V589M Missense 11/12 - 3
1-55527134-GG-AA c.1768_1769delinsAA p.G590N Missense 11/12 - 3
1-55527135-G-A c.1769G>A p.G590D Missense 11/12 - 1
1-55527139-C-G c.1773C>G p.H591Q Missense 11/12 - 1
1-55527141-G-A c.1775G>A p.R592K Missense 11/12 - 2
1-55527142-G-C c.1776G>C p.R592S Missense 11/12 - 1
1-55527142-G-T c.1776G>T p.R592S Missense 11/12 - 1
1-55527143-G-A c.1777G>A p.E593K Missense 11/12 - 1
1-55527143-G-C c.1777G>C p.E593Q Missense 11/12 - 1
1-55527144-AG-A c.1780del p.A594Pfs*29 Frameshift 11/12 - 1
1-55527146-G-A c.1780G>A p.A594T Missense 11/12 - 2
1-55527147-C-A c.1781C>A p.A594D Missense 11/12 - 3
1-55527150-G-A c.1784G>A p.S595N Missense 11/12 - 1
1-55527151-C-T c.1785C>T p.S595= Synonymous 11/12 - 1
1-55527157-C-T c.1791C>T p.H597= Synonymous 11/12 - 1
1-55527158-G-A c.1792G>A p.A598T Missense 11/12 - 5
1-55527161-T-C c.1795T>C p.S599P Missense 11/12 - 1
1-55527162-C-T c.1796C>T p.S599F Missense 11/12 - 2
1-55527163-C-A c.1797C>A p.S599= Synonymous 11/12 - 1
1-55527163-C-G c.1797C>G p.S599= Synonymous 11/12 - 2
1-55527163-C-T c.1797C>T p.S599= Synonymous 11/12 - 1
1-55527170-CA-GC c.1804_1805delinsGC p.H602A Missense 11/12 - 1
1-55527170-C-T c.1804C>T p.H602Y Missense 11/12 - 1
1-55527171-A-G c.1805A>G p.H602R Missense 11/12 - 2
1-55527182-C-G c.1816C>G p.L606V Missense 11/12 - 1
1-55527182-C-T c.1816C>T p.L606= Synonymous 11/12 - 2
1-55527184-G-A c.1818G>A p.L606= Synonymous 11/12 - 1
1-55527184-G-C c.1818G>C p.L606= Synonymous 11/12 - 1
1-55527184-G-T c.1818G>T p.L606= Synonymous 11/12 - 2
1-55527185-G-A c.1819G>A p.E607K Missense 11/12 - 2
1-55527185-G-T c.1819G>T p.E607* Nonsense 11/12 - 1
1-55527186-A-G c.1820A>G p.E607G Missense 11/12 - 1
1-55527189-G-T c.1823G>T p.C608F Missense 11/12 - 1
1-55527190-C-CT c.1824_1825insT p.K609* Nonsense 11/12 - 1
1-55527194-GT-CG c.1828_1829delinsCG p.V610R Missense 11/12 - 1
1-55527197-A-G c.1831A>G p.K611E Missense 11/12 - 1
1-55527199-G-A c.1833G>A p.K611= Synonymous 11/12 - 1
1-55527199-G-C c.1833G>C p.K611N Missense 11/12 - 1
1-55527199-G-T c.1833G>T p.K611N Missense 11/12 - 1
1-55527200-G-A c.1834G>A p.E612K Missense 11/12 - 1
1-55527201-A-G c.1835A>G p.E612G Missense 11/12 - 1
1-55527203-C-A c.1837C>A p.H613N Missense 11/12 - 1
1-55527206-G-T c.1840G>T p.G614* Nonsense 11/12 - 1
1-55527213-C-T c.1847C>T p.P616L Missense 11/12 - 5
1-55527215-G-A c.1849G>A p.A617T Missense 11/12 - 6
1-55527216-C-A c.1850C>A p.A617D Missense 11/12 - 4
1-55527217-C-G c.1851C>G p.A617= Synonymous 11/12 - 1
1-55527217-C-T c.1851C>T p.A617= Synonymous 11/12 - 1
1-55527219-C-T c.1853C>T p.P618L Missense 11/12 - 1
1-55527221-C-T c.1855C>T p.Q619* Nonsense 11/12 - 1
1-55527222-A-C c.1856A>C p.Q619P Missense 11/12 - 9
1-55527222-A-G c.1856A>G p.Q619R Missense 11/12 - 1
1-55527222-A-T c.1856A>T p.Q619L Missense 11/12 - 1
1-55527223-G-A c.1857G>A p.Q619= Synonymous 11/12 - 1
1-55527225-A-T c.1859A>T p.E620V Missense 11/12 - 1
1-55527230-G-A c.1863+1G>A - IntronicSNV - 11/11 4
1-55527239-C-T c.1863+10C>T - IntronicSNV - 11/11 1
1-55527240-C-G c.1863+11C>G - IntronicSNV - 11/11 3
1-55527242-G-A c.1863+13G>A - IntronicSNV - 11/11 1
1-55527249-C-G c.1863+20C>G - IntronicSNV - 11/11 1
1-55527265-T-C c.1863+36T>C - IntronicSNV - 11/11 1
1-55527305-C-T c.1863+76C>T - IntronicSNV - 11/11 1
1-55527323-G-A c.1863+94G>A - IntronicSNV - 11/11 12
1-55527335-C-T c.1863+106C>T - IntronicSNV - 11/11 2
1-55527363-C-G c.1863+134C>G - IntronicSNV - 11/11 1
1-55527367-C-T c.1863+138C>T - IntronicSNV - 11/11 1
1-55527422-C-T c.1863+193C>T - IntronicSNV - 11/11 1
1-55527479-A-G c.1863+250A>G - IntronicSNV - 11/11 8
1-55527918-C-T c.1863+689C>T - IntronicSNV - 11/11 3
1-55528629-G-A c.1864-413G>A - IntronicSNV - 11/11 13
1-55528807-G-C c.1864-235G>C - IntronicSNV - 11/11 4
1-55529004-C-A c.1864-38C>A - IntronicSNV - 11/11 1
1-55529004-C-T c.1864-38C>T - IntronicSNV - 11/11 1
1-55529029-C-G c.1864-13C>G - IntronicSNV - 11/11 2
1-55529029-C-T c.1864-13C>T - IntronicSNV - 11/11 2
1-55529030-G-A c.1864-12G>A - IntronicSNV - 11/11 2
1-55529042-G-A c.1864G>A p.V622M Missense 12/12 - 4
1-55529042-G-T c.1864G>T p.V622L Missense 12/12 - 1
1-55529047-C-A c.1869C>A p.T623= Synonymous 12/12 - 1
1-55529047-C-G c.1869C>G p.T623= Synonymous 12/12 - 2
1-55529047-C-T c.1869C>T p.T623= Synonymous 12/12 - 3
1-55529048-G-A c.1870G>A p.V624M Missense 12/12 - 4
1-55529057-G-A c.1879G>A p.E627K Missense 12/12 - 2
1-55529060-G-A c.1882G>A p.E628K Missense 12/12 - 2
1-55529063-G-A c.1885G>A p.G629S Missense 12/12 - 1
1-55529063-G-C c.1885G>C p.G629R Missense 12/12 - 1
1-55529064-G-A c.1886G>A p.G629D Missense 12/12 - 3
1-55529064-G-C c.1886G>C p.G629A Missense 12/12 - 1
1-55529066-T-C c.1888T>C p.W630R Missense 12/12 - 1
1-55529067-G-A c.1889G>A p.W630* Nonsense 12/12 - 2
1-55529068-G-A c.1890G>A p.W630* Nonsense 12/12 - 2
1-55529073-T-A c.1895T>A p.L632Q Missense 12/12 - 1
1-55529072-C-T c.1894C>T p.L632= Synonymous 12/12 - 1
1-55529074-G-A c.1896G>A p.L632= Synonymous 12/12 - 1
1-55529074-G-C c.1896G>C p.L632= Synonymous 12/12 - 1
1-55529074-G-T c.1896G>T p.L632= Synonymous 12/12 - 1
1-55529081-T-C c.1903T>C p.C635R Missense 12/12 - 2
1-55529084-A-C c.1906A>C p.S636R Missense 12/12 - 6
1-55529086-T-A c.1908T>A p.S636R Missense 12/12 - 3
1-55529086-T-G c.1908T>G p.S636R Missense 12/12 - 3
1-55529087-G-A c.1909G>A p.A637T Missense 12/12 - 2
1-55529090-C-T c.1912C>T p.L638F Missense 12/12 - 1
1-55529093-C-G c.1915C>G p.P639A Missense 12/12 - 1
1-55529099-GA-G c.1921del p.T641Pfs*10 Frameshift 12/12 - 1
1-55529100-C-T c.1922C>T p.T641I Missense 12/12 - 1
1-55529102-TC-GG c.1924_1925delinsGG p.S642G Missense 12/12 - 1
1-55529105-C-G c.1927C>G p.H643D Missense 12/12 - 1
1-55529106-A-G c.1928A>G p.H643R Missense 12/12 - 1
1-55529107-C-T c.1929C>T p.H643= Synonymous 12/12 - 1
1-55529108-G-A c.1930G>A p.V644I Missense 12/12 - 4
1-55529108-GT-CG c.1930_1931delinsCG p.V644R Missense 12/12 - 1
1-55529110-C-A c.1932C>A p.V644= Synonymous 12/12 - 1
1-55529110-C-G c.1932C>G p.V644= Synonymous 12/12 - 1
1-55529110-C-T c.1932C>T p.V644= Synonymous 12/12 - 1
1-55529114-G-A c.1936G>A p.G646R Missense 12/12 - 1
1-55529114-G-C c.1936G>C p.G646R Missense 12/12 - 1
1-55529117-G-C c.1939G>C p.A647P Missense 12/12 - 1
1-55529118-C-T c.1940C>T p.A647V Missense 12/12 - 2
1-55529119-C-A c.1941C>A p.A647= Synonymous 12/12 - 2
1-55529119-C-G c.1941C>G p.A647= Synonymous 12/12 - 1
1-55529119-C-T c.1941C>T p.A647= Synonymous 12/12 - 1
1-55529122-C-A c.1944C>A p.Y648* Nonsense 12/12 - 2
1-55529122-C-T c.1944C>T p.Y648= Synonymous 12/12 - 2
1-55529123-G-A c.1945G>A p.A649T Missense 12/12 - 3
1-55529124-C-A c.1946C>A p.A649D Missense 12/12 - 1
1-55529124-C-G c.1946C>G p.A649G Missense 12/12 - 1
1-55529126-CG-C c.1948del p.V650* Frameshift 12/12 - 1
1-55529126-G-A c.1948G>A p.V650I Missense 12/12 - 2
1-55529126-GTA-ATG c.1948_1950delinsATG p.V650M Missense 12/12 - 1
1-55529131-C-A c.1953C>A p.D651E Missense 12/12 - 1
1-55529131-C-G c.1953C>G p.D651E Missense 12/12 - 1
1-55529132-AA-GC c.1954_1955delinsGC p.N652A Missense 12/12 - 1
1-55529132-A-G c.1954A>G p.N652D Missense 12/12 - 5
1-55529136-C-T c.1958C>T p.T653M Missense 12/12 - 1
1-55529137-G-A c.1959G>A p.T653= Synonymous 12/12 - 2
1-55529137-G-C c.1959G>C p.T653= Synonymous 12/12 - 1
1-55529137-G-T c.1959G>T p.T653= Synonymous 12/12 - 1
1-55529138-T-C c.1960T>C p.C654R Missense 12/12 - 1
1-55529139-G-A c.1961G>A p.C654Y Missense 12/12 - 1
1-55529136-CGT-C c.1963_1964del p.V655Sfs*55 Frameshift 12/12 - 1
1-55529142-GT-G c.1964del p.V655Efs*18 Frameshift 12/12 - 1
1-55529147-AG-GC c.1969_1970delinsGC p.R657A Missense 12/12 - 1
1-55529151-G-A c.1973G>A p.S658N Missense 12/12 - 1
1-55529153-C-G c.1975C>G p.R659G Missense 12/12 - 3
1-55529153-CG-GC c.1975_1976delinsGC p.R659A Missense 12/12 - 1
1-55529153-C-T c.1975C>T p.R659W Missense 12/12 - 3
1-55529154-G-A c.1976G>A p.R659Q Missense 12/12 - 1
1-55529154-G-T c.1976G>T p.R659L Missense 12/12 - 2
1-55529156-G-C c.1978G>C p.D660H Missense 12/12 - 1
1-55529156-G-T c.1978G>T p.D660Y Missense 12/12 - 1
1-55529157-A-C c.1979A>C p.D660A Missense 12/12 - 3
1-55529159-G-A c.1981G>A p.V661I Missense 12/12 - 1
1-55529161-C-CT c.1983_1984insT p.S662* Nonsense 12/12 - 1
1-55529164-C-A c.1986C>A p.S662R Missense 12/12 - 1
1-55529165-A-G c.1987A>G p.T663A Missense 12/12 - 2
1-55529169-C-T c.1991C>T p.T664I Missense 12/12 - 3
1-55529172-G-A c.1994G>A p.G665D Missense 12/12 - 1
1-55529174-AGC-GAG c.1996_1998delinsGAG p.S666E Missense 12/12 - 1
1-55529174-AG-GC c.1996_1997delinsGC p.S666A Missense 12/12 - 1
1-55529175-G-A c.1997G>A p.S666N Missense 12/12 - 3
1-55529176-C-A c.1998C>A p.S666R Missense 12/12 - 2
1-55529178-C-A c.2000C>A p.T667N Missense 12/12 - 2
1-55529180-A-G c.2002A>G p.S668G Missense 12/12 - 3
1-55529180-AGC-GAG c.2002_2004delinsGAG p.S668E Missense 12/12 - 1
1-55529180-AG-GC c.2002_2003delinsGC p.S668A Missense 12/12 - 1
1-55529181-G-T c.2003G>T p.S668I Missense 12/12 - 1
1-55529180-A-C c.2002A>C p.S668R Missense 12/12 - 9
1-55529182-C-A c.2004C>A p.S668R Missense 12/12 - 13
1-55529182-C-G c.2004C>G p.S668R Missense 12/12 - 9
1-55529182-C-T c.2004C>T p.S668= Synonymous 12/12 - 2
1-55529183-G-A c.2005G>A p.E669K Missense 12/12 - 1
1-55529183-GA-TC c.2005_2006inv p.E669S Missense 12/12 - 1
1-55529183-G-C c.2005G>C p.E669Q Missense 12/12 - 1
1-55529187-G-A c.2009G>A p.G670E Missense 12/12 - 127
1-55529188-G-A c.2010G>A p.G670= Synonymous 12/12 - 2
1-55529188-G-C c.2010G>C p.G670= Synonymous 12/12 - 1
1-55529188-G-T c.2010G>T p.G670= Synonymous 12/12 - 1
1-55529191-C-G c.2013C>G p.A671= Synonymous 12/12 - 1
1-55529191-C-T c.2013C>T p.A671= Synonymous 12/12 - 2
1-55529193-T-C c.2015T>C p.V672A Missense 12/12 - 1
1-55529194-G-A c.2016G>A p.V672= Synonymous 12/12 - 1
1-55529194-G-C c.2016G>C p.V672= Synonymous 12/12 - 1
1-55529194-G-T c.2016G>T p.V672= Synonymous 12/12 - 1
1-55529195-A-G c.2017A>G p.T673A Missense 12/12 - 1
1-55529196-C-A c.2018C>A p.T673K Missense 12/12 - 1
1-55529197-A-G c.2019A>G p.T673= Synonymous 12/12 - 1
1-55529198-G-A c.2020G>A p.A674T Missense 12/12 - 1
1-55529201-G-A c.2023G>A p.V675I Missense 12/12 - 1
1-55529201-G-C c.2023G>C p.V675L Missense 12/12 - 3
1-55529209-C-T c.2031C>T p.I677= Synonymous 12/12 - 1
1-55529211-G-A c.2033G>A p.C678Y Missense 12/12 - 2
1-55529212-C-A c.2034C>A p.C678* Nonsense 12/12 - 1
1-55529213-T-A c.2035T>A p.C679S Missense 12/12 - 1
1-55529213-TG-GC c.2035_2036delinsGC p.C679A Missense 12/12 - 1
1-55529214-G-C c.2036G>C p.C679S Missense 12/12 - 1
1-55529214-G-A c.2036G>A p.C679Y Missense 12/12 - 1
1-55529215-C-A c.2037C>A p.C679* Nonsense 12/12 - 123
1-55529215-C-T c.2037C>T p.C679= Synonymous 12/12 - 9
1-55529216-C-G c.2038C>G p.R680G Missense 12/12 - 3
1-55529216-CG-GC c.2038_2039delinsGC p.R680A Missense 12/12 - 1
1-55529216-C-T c.2038C>T p.R680W Missense 12/12 - 1
1-55529217-G-A c.2039G>A p.R680Q Missense 12/12 - 2
1-55529222-C-A c.2044C>A p.R682= Synonymous 12/12 - 1
1-55529222-CGG-AGC c.2044_2046delinsAGC p.R682S Missense 12/12 - 1
1-55529224-G-A c.2046G>A p.R682= Synonymous 12/12 - 1
1-55529224-G-C c.2046G>C p.R682= Synonymous 12/12 - 1
1-55529224-G-T c.2046G>T p.R682= Synonymous 12/12 - 1
1-55529223-G-A c.2045G>A p.R682Q Missense 12/12 - 3
1-55529225-C-CA c.2048dup p.H683Qfs*28 Frameshift 12/12 - 2
1-55529226-A-G c.2048A>G p.H683R Missense 12/12 - 1
1-55529227-C-T c.2049C>T p.H683= Synonymous 12/12 - 1
1-55529228-C-G c.2050C>G p.L684V Missense 12/12 - 1
1-55529231-G-A c.2053G>A p.A685T Missense 12/12 - 1
1-55529232-C-T c.2054C>T p.A685V Missense 12/12 - 2
1-55529240-TC-GA c.2062_2063inv p.S688D Missense 12/12 - 1
1-55529240-T-G c.2062T>G p.S688A Missense 12/12 - 1
1-55529242-C-A c.2064C>A p.S688= Synonymous 12/12 - 1
1-55529242-C-G c.2064C>G p.S688= Synonymous 12/12 - 1
1-55529242-C-T c.2064C>T p.S688= Synonymous 12/12 - 1
1-55529243-C-T c.2065C>T p.Q689* Nonsense 12/12 - 1
1-55529245-G-C c.2067G>C p.Q689H Missense 12/12 - 1
1-55529246-GA-TC c.2068_2069inv p.E690S Missense 12/12 - 1
1-55529255-T-G c.2077T>G p.*693Gext*19 Missense 12/12 - 1
1-55529285-G-A c.*28G>A - 3-UTRSNV 12/12 - 1
1-55529332-C-T c.*75C>T - 3-UTRSNV 12/12 - 2
1-55529428-C-G c.*171C>G - 3-UTRSNV 12/12 - 1
1-55529428-C-T c.*171C>T - 3-UTRSNV 12/12 - 1
1-55529489-C-T c.*232C>T - 3-UTRSNV 12/12 - 1
1-55529491-C-T c.*234C>T - 3-UTRSNV 12/12 - 1
1-55529602-C-T c.*345C>T - 3-UTRSNV 12/12 - 1
1-55529615-C-T c.*358C>T - 3-UTRSNV 12/12 - 1
1-55529671-C-G c.*414C>G - 3-UTRSNV 12/12 - 1
1-55529671-C-T c.*414C>T - 3-UTRSNV 12/12 - 1
1-55529701-G-C c.*444G>C - 3-UTRSNV 12/12 - 1
1-55529701-G-T c.*444G>T - 3-UTRSNV 12/12 - 1
1-55529828-C-T c.*571C>T - 3-UTRSNV 12/12 - 16
1-55529871-C-G c.*614C>G - 3-UTRSNV 12/12 - 3
1-55529871-C-T c.*614C>T - 3-UTRSNV 12/12 - 3