PLOD1

PLOD1 procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

Annotation transcript: NM_000302.4

1042 unique variant annotations were identified in 486 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
1-11994779-G-A c.-58G>A - 5-UTRSNV 1/19 - 1
1-11994837-AT-GC c.1_2delinsGC p.M1? Missense 1/19 - 1
1-11994840-C-A c.4C>A p.R2= Synonymous 1/19 - 3
1-11994840-C-T c.4C>T p.R2W Missense 1/19 - 1
1-11994842-G-A c.6G>A p.R2= Synonymous 1/19 - 3
1-11994842-G-C c.6G>C p.R2= Synonymous 1/19 - 3
1-11994842-G-T c.6G>T p.R2= Synonymous 1/19 - 3
1-11994843-C-T c.7C>T p.P3S Missense 1/19 - 2
1-11994844-C-T c.8C>T p.P3L Missense 1/19 - 2
1-11994845-C-A c.9C>A p.P3= Synonymous 1/19 - 1
1-11994845-C-G c.9C>G p.P3= Synonymous 1/19 - 1
1-11994845-C-T c.9C>T p.P3= Synonymous 1/19 - 1
1-11994846-CTG-TTT c.10_12delinsTTT p.L4F Missense 1/19 - 1
1-11994847-T-A c.11T>A p.L4Q Missense 1/19 - 1
1-11994852-C-T c.16C>T p.L6= Synonymous 1/19 - 1
1-11994854-A-C c.18A>C p.L6= Synonymous 1/19 - 1
1-11994854-A-G c.18A>G p.L6= Synonymous 1/19 - 1
1-11994854-A-T c.18A>T p.L6= Synonymous 1/19 - 1
1-11994858-G-A c.22G>A p.A8T Missense 1/19 - 1
1-11994867-G-T c.31G>T p.G11C Missense 1/19 - 1
1-11994870-T-A c.34T>A p.W12R Missense 1/19 - 1
1-11994870-T-C c.34T>C p.W12R Missense 1/19 - 1
1-11994882-GC-TA c.46_47delinsTA p.A16Y Missense 1/19 - 1
1-11994882-GC-TT c.46_47delinsTT p.A16F Missense 1/19 - 1
1-11994883-C-T c.47C>T p.A16V Missense 1/19 - 1
1-11994885-G-A c.49G>A p.E17K Missense 1/19 - 2
1-11994886-A-G c.50A>G p.E17G Missense 1/19 - 1
1-11994888-G-A c.52G>A p.A18T Missense 1/19 - 1
1-11994888-G-C c.52G>C p.A18P Missense 1/19 - 1
1-11994888-GC-AG c.52_53delinsAG p.A18R Missense 1/19 - 1
1-11994888-GC-AT c.52_53delinsAT p.A18M Missense 1/19 - 1
1-11994888-GC-CA c.52_53delinsCA p.A18Q Missense 1/19 - 1
1-11994888-GCG-TTT c.52_54delinsTTT p.A18F Missense 1/19 - 1
1-11994889-C-G c.53C>G p.A18G Missense 1/19 - 3
1-11994889-C-T c.53C>T p.A18V Missense 1/19 - 1
1-11994894-G-A c.58G>A p.G20S Missense 1/19 - 1
1-11994897-G-A c.61G>A p.D21N Missense 1/19 - 1
1-11994898-A-G c.62A>G p.D21G Missense 1/19 - 1
1-11994900-G-C c.64G>C p.A22P Missense 1/19 - 1
1-11994900-GCC-AAG c.64_66delinsAAG p.A22K Missense 1/19 - 1
1-11994900-GC-CG c.64_65delinsCG p.A22R Missense 1/19 - 1
1-11994900-G-T c.64G>T p.A22S Missense 1/19 - 1
1-11994901-C-G c.65C>G p.A22G Missense 1/19 - 1
1-11994901-C-T c.65C>T p.A22V Missense 1/19 - 1
1-11994906-CC-GG c.70_71inv p.P24G Missense 1/19 - 1
1-11994906-C-T c.70C>T p.P24S Missense 1/19 - 1
1-11994908-G-A c.72G>A p.P24= Synonymous 1/19 - 1
1-11994908-G-C c.72G>C p.P24= Synonymous 1/19 - 1
1-11994908-G-T c.72G>T p.P24= Synonymous 1/19 - 1
1-11994936-G-A c.76+24G>A - IntronicSNV - 1/18 1
1-11995176-A-G c.76+264A>G - IntronicSNV - 1/18 2
1-11996142-T-C c.76+1230T>C - IntronicSNV - 1/18 1
1-11996715-G-A c.76+1803G>A - IntronicSNV - 1/18 1
1-12002164-T-C c.77-5869T>C - IntronicSNV - 1/18 4
1-12004442-C-G c.77-3591C>G - IntronicSNV - 1/18 1
1-12004479-T-TCACACACACA c.77-3554_77-3553insCACACACACA - IntronicInsertion - 1/18 1
1-12004493-C-A c.77-3540C>A - IntronicSNV - 1/18 1
1-12004493-C-CAA c.77-3539_77-3538insAA - IntronicInsertion - 1/18 1
1-12004512-T-A c.77-3521T>A - IntronicSNV - 1/18 2
1-12004596-G-A c.77-3437G>A - IntronicSNV - 1/18 1
1-12004596-G-C c.77-3437G>C - IntronicSNV - 1/18 1
1-12004618-G-T c.77-3415G>T - IntronicSNV - 1/18 1
1-12004626-C-T c.77-3407C>T - IntronicSNV - 1/18 2
1-12004663-G-A c.77-3370G>A - IntronicSNV - 1/18 1
1-12004675-C-T c.77-3358C>T - IntronicSNV - 1/18 1
1-12004694-C-T c.77-3339C>T - IntronicSNV - 1/18 1
1-12004699-G-A c.77-3334G>A - IntronicSNV - 1/18 1
1-12004699-G-C c.77-3334G>C - IntronicSNV - 1/18 1
1-12004999-G-A c.77-3034G>A - IntronicSNV - 1/18 2
1-12005250-G-A c.77-2783G>A - IntronicSNV - 1/18 1
1-12008033-A-G c.77A>G p.D26G Missense 2/19 - 1
1-12008036-A-G c.80A>G p.N27S Missense 2/19 - 1
1-12008045-T-C c.89T>C p.V30A Missense 2/19 - 1
1-12008050-A-T c.94A>T p.T32S Missense 2/19 - 1
1-12008051-C-T c.95C>T p.T32M Missense 2/19 - 1
1-12008052-G-C c.96G>C p.T32= Synonymous 2/19 - 2
1-12008053-G-C c.97G>C p.V33L Missense 2/19 - 1
1-12008053-G-T c.97G>T p.V33L Missense 2/19 - 1
1-12008054-T-G c.98T>G p.V33G Missense 2/19 - 1
1-12008056-GCC-TAA c.100_102delinsTAA p.A34* Nonsense 2/19 - 1
1-12008059-A-G c.103A>G p.T35A Missense 2/19 - 1
1-12008060-C-T c.104C>T p.T35I Missense 2/19 - 2
1-12008061-T-C c.105T>C p.T35= Synonymous 2/19 - 1
1-12008061-T-TA c.107dup p.E37Gfs*67 Frameshift 2/19 - 1
1-12008065-G-A c.109G>A p.E37K Missense 2/19 - 4
1-12008068-A-T c.112A>T p.T38S Missense 2/19 - 1
1-12008069-C-G c.113C>G p.T38S Missense 2/19 - 2
1-12008070-C-A c.114C>A p.T38= Synonymous 2/19 - 2
1-12008070-C-G c.114C>G p.T38= Synonymous 2/19 - 2
1-12008070-C-T c.114C>T p.T38= Synonymous 2/19 - 3
1-12008071-G-A c.115G>A p.E39K Missense 2/19 - 1
1-12008078-T-A c.122T>A p.F41Y Missense 2/19 - 1
1-12008079-C-T c.123C>T p.F41= Synonymous 2/19 - 3
1-12008080-CGT-ATG c.124_126delinsATG p.R42M Missense 2/19 - 1
1-12008080-C-T c.124C>T p.R42C Missense 2/19 - 1
1-12008081-G-A c.125G>A p.R42H Missense 2/19 - 1
1-12008083-C-G c.127C>G p.R43G Missense 2/19 - 1
1-12008083-CGC-AAG c.127_129delinsAAG p.R43K Missense 2/19 - 1
1-12008083-C-T c.127C>T p.R43C Missense 2/19 - 4
1-12008084-G-A c.128G>A p.R43H Missense 2/19 - 2
1-12008092-C-A c.136C>A p.R46S Missense 2/19 - 1
1-12008092-C-T c.136C>T p.R46C Missense 2/19 - 2
1-12008093-G-A c.137G>A p.R46H Missense 2/19 - 2
1-12008093-G-T c.137G>T p.R46L Missense 2/19 - 1
1-12008095-T-C c.139T>C p.S47P Missense 2/19 - 6
1-12008095-T-G c.139T>G p.S47A Missense 2/19 - 1
1-12008096-CA-TT c.140_141delinsTT p.S47F Missense 2/19 - 1
1-12008097-A-G c.141A>G p.S47= Synonymous 2/19 - 1
1-12008097-A-T c.141A>T p.S47= Synonymous 2/19 - 1
1-12008099-C-T c.143C>T p.A48V Missense 2/19 - 1
1-12008101-C-T c.145C>T p.Q49* Nonsense 2/19 - 1
1-12008106-C-T c.150C>T p.F50= Synonymous 2/19 - 1
1-12008109-C-G c.153C>G p.F51L Missense 2/19 - 1
1-12008110-A-T c.154A>T p.N52Y Missense 2/19 - 1
1-12008112-C-A c.156C>A p.N52K Missense 2/19 - 1
1-12008112-C-G c.156C>G p.N52K Missense 2/19 - 1
1-12008113-T-C c.157T>C p.Y53H Missense 2/19 - 1
1-12008118-G-C c.162G>C p.K54N Missense 2/19 - 1
1-12008118-G-T c.162G>T p.K54N Missense 2/19 - 1
1-12008121-C-T c.165C>T p.I55= Synonymous 2/19 - 4
1-12008122-C-T c.166C>T p.Q56* Nonsense 2/19 - 1
1-12008203-C-T c.168+79C>T - IntronicSNV - 2/18 1
1-12009734-C-T c.169-96C>T - IntronicSNV - 2/18 2
1-12009777-C-G c.169-53C>G - IntronicSNV - 2/18 1
1-12009777-C-T c.169-53C>T - IntronicSNV - 2/18 1
1-12009830-GC-AG c.169_170delinsAG p.A57R Missense 3/19 - 1
1-12009831-C-T c.170C>T p.A57V Missense 3/19 - 2
1-12009832-G-A c.171G>A p.A57= Synonymous 3/19 - 1
1-12009832-G-C c.171G>C p.A57= Synonymous 3/19 - 1
1-12009832-G-T c.171G>T p.A57= Synonymous 3/19 - 1
1-12009834-T-C c.173T>C p.L58P Missense 3/19 - 1
1-12009836-G-C c.175G>C p.G59R Missense 3/19 - 1
1-12009836-G-T c.175G>T p.G59C Missense 3/19 - 1
1-12009840-T-C c.179T>C p.L60P Missense 3/19 - 1
1-12009842-GGG-AGC c.181_183delinsAGC p.G61S Missense 3/19 - 1
1-12009843-G-A c.182G>A p.G61E Missense 3/19 - 3
1-12009843-G-T c.182G>T p.G61V Missense 3/19 - 1
1-12009847-G-C c.186G>C p.E62D Missense 3/19 - 1
1-12009847-G-T c.186G>T p.E62D Missense 3/19 - 1
1-12009848-G-A c.187G>A p.D63N Missense 3/19 - 1
1-12009848-GA-TT c.187_188delinsTT p.D63F Missense 3/19 - 1
1-12009852-G-T c.191G>T p.W64L Missense 3/19 - 1
1-12009854-A-T c.193A>T p.N65Y Missense 3/19 - 1
1-12009857-GTG-ATC c.196_198delinsATC p.V66I Missense 3/19 - 1
1-12009860-G-A c.199G>A p.E67K Missense 3/19 - 1
1-12009860-G-T c.199G>T p.E67* Nonsense 3/19 - 1
1-12009862-G-C c.201G>C p.E67D Missense 3/19 - 2
1-12009862-G-T c.201G>T p.E67D Missense 3/19 - 1
1-12009860-GAGA-G c.202_204del p.K68del InFrameDeletion 3/19 - 1
1-12009865-G-A c.204G>A p.K68= Synonymous 3/19 - 1
1-12009866-G-A c.205G>A p.G69R Missense 3/19 - 1
1-12009866-G-C c.205G>C p.G69R Missense 3/19 - 1
1-12009871-G-A c.210G>A p.T70= Synonymous 3/19 - 1
1-12009871-G-C c.210G>C p.T70= Synonymous 3/19 - 1
1-12009871-G-T c.210G>T p.T70= Synonymous 3/19 - 2
1-12009873-C-T c.212C>T p.S71L Missense 3/19 - 2
1-12009874-G-A c.213G>A p.S71= Synonymous 3/19 - 1
1-12009874-G-C c.213G>C p.S71= Synonymous 3/19 - 2
1-12009874-G-T c.213G>T p.S71= Synonymous 3/19 - 1
1-12009875-G-A c.214G>A p.A72T Missense 3/19 - 1
1-12009878-G-A c.217G>A p.G73S Missense 3/19 - 1
1-12009879-G-A c.218G>A p.G73D Missense 3/19 - 2
1-12009880-T-A c.219T>A p.G73= Synonymous 3/19 - 2
1-12009880-T-C c.219T>C p.G73= Synonymous 3/19 - 2
1-12009880-T-G c.219T>G p.G73= Synonymous 3/19 - 2
1-12009883-A-C c.222A>C p.G74= Synonymous 3/19 - 2
1-12009883-A-G c.222A>G p.G74= Synonymous 3/19 - 2
1-12009883-A-T c.222A>T p.G74= Synonymous 3/19 - 3
1-12009885-G-C c.224G>C p.G75A Missense 3/19 - 1
1-12009886-G-A c.225G>A p.G75= Synonymous 3/19 - 2
1-12009893-G-A c.232G>A p.V78I Missense 3/19 - 1
1-12009899-C-T c.238C>T p.L80= Synonymous 3/19 - 1
1-12009901-G-A c.240G>A p.L80= Synonymous 3/19 - 1
1-12009901-G-C c.240G>C p.L80= Synonymous 3/19 - 1
1-12009901-G-T c.240G>T p.L80= Synonymous 3/19 - 1
1-12009902-CT-GC c.241_242delinsGC p.L81A Missense 3/19 - 1
1-12009902-C-T c.241C>T p.L81= Synonymous 3/19 - 1
1-12009904-G-A c.243G>A p.L81= Synonymous 3/19 - 2
1-12009904-G-C c.243G>C p.L81= Synonymous 3/19 - 1
1-12009904-G-T c.243G>T p.L81= Synonymous 3/19 - 1
1-12009907-G-A c.246G>A p.K82= Synonymous 3/19 - 2
1-12009908-AA-GC c.247_248delinsGC p.K83A Missense 3/19 - 1
1-12009908-A-G c.247A>G p.K83E Missense 3/19 - 1
1-12009911-G-A c.250G>A p.A84T Missense 3/19 - 7
1-12009911-G-C c.250G>C p.A84P Missense 3/19 - 1
1-12009911-G-T c.250G>T p.A84S Missense 3/19 - 1
1-12009915-T-C c.254T>C p.L85P Missense 3/19 - 3
1-12009918-A-C c.257A>C p.E86A Missense 3/19 - 1
1-12009923-CA-AG c.262_263delinsAG p.H88S Missense 3/19 - 1
1-12009926-G-A c.265G>A p.A89T Missense 3/19 - 1
1-12009926-G-C c.265G>C p.A89P Missense 3/19 - 1
1-12009926-GCA-TGT c.265_267delinsTGT p.A89C Missense 3/19 - 1
1-12009926-G-T c.265G>T p.A89S Missense 3/19 - 2
1-12009927-C-T c.266C>T p.A89V Missense 3/19 - 1
1-12009937-G-C c.276G>C p.E92D Missense 3/19 - 1
1-12009937-G-T c.276G>T p.E92D Missense 3/19 - 1
1-12009938-G-C c.277G>C p.D93H Missense 3/19 - 1
1-12009941-C-G c.280C>G p.L94V Missense 3/19 - 1
1-12009946-C-A c.285C>A p.V95= Synonymous 3/19 - 1
1-12009946-C-G c.285C>G p.V95= Synonymous 3/19 - 1
1-12009946-C-T c.285C>T p.V95= Synonymous 3/19 - 1
1-12009947-A-G c.286A>G p.I96V Missense 3/19 - 4
1-12009948-T-G c.287T>G p.I96S Missense 3/19 - 1
1-12009950-C-T c.289C>T p.L97F Missense 3/19 - 1
1-12009952-C-T c.291C>T p.L97= Synonymous 3/19 - 1
1-12009955-C-G c.294C>G p.F98L Missense 3/19 - 1
1-12009955-C-T c.294C>T p.F98= Synonymous 3/19 - 26
1-12009956-G-A c.295G>A p.A99T Missense 3/19 - 31
1-12009957-CA-AC c.296_297delinsAC p.A99D Missense 3/19 - 1
1-12009958-A-C c.297A>C p.A99= Synonymous 3/19 - 2
1-12009958-A-G c.297A>G p.A99= Synonymous 3/19 - 1
1-12009958-A-T c.297A>T p.A99= Synonymous 3/19 - 2
1-12009962-A-G c.301A>G p.S101G Missense 3/19 - 2
1-12009962-AG-GC c.301_302delinsGC p.S101A Missense 3/19 - 1
1-12009963-G-A c.302G>A p.S101N Missense 3/19 - 1
1-12010046-G-A c.302+83G>A - IntronicSNV - 3/18 2
1-12010299-G-A c.303-115G>A - IntronicSNV - 3/18 1
1-12010418-G-A c.307G>A p.D103N Missense 4/19 - 1
1-12010419-A-G c.308A>G p.D103G Missense 4/19 - 1
1-12010420-C-T c.309C>T p.D103= Synonymous 4/19 - 1
1-12010421-G-A c.310G>A p.V104M Missense 4/19 - 1
1-12010424-C-G c.313C>G p.L105V Missense 4/19 - 1
1-12010434-C-T c.323C>T p.S108L Missense 4/19 - 2
1-12010436-GGG-AGC c.325_327delinsAGC p.G109S Missense 4/19 - 1
1-12010434-CG-C c.327del p.R111Gfs*4 Frameshift 4/19 - 1
1-12010439-C-T c.328C>T p.P110S Missense 4/19 - 1
1-12010442-C-T c.331C>T p.R111W Missense 4/19 - 1
1-12010449-T-A c.338T>A p.L113H Missense 4/19 - 1
1-12010451-C-G c.340C>G p.L114V Missense 4/19 - 1
1-12010451-CTG-TTT c.340_342delinsTTT p.L114F Missense 4/19 - 1
1-12010451-C-T c.340C>T p.L114= Synonymous 4/19 - 1
1-12010453-G-A c.342G>A p.L114= Synonymous 4/19 - 1
1-12010453-G-C c.342G>C p.L114= Synonymous 4/19 - 1
1-12010453-G-T c.342G>T p.L114= Synonymous 4/19 - 1
1-12010455-A-C c.344A>C p.K115T Missense 4/19 - 1
1-12010460-TT-AA c.349_350inv p.F117N Missense 4/19 - 1
1-12010463-C-T c.352C>T p.R118W Missense 4/19 - 3
1-12010464-G-A c.353G>A p.R118Q Missense 4/19 - 3
1-12010466-C-A c.355C>A p.Q119K Missense 4/19 - 2
1-12010469-G-A c.358G>A p.A120T Missense 4/19 - 1
1-12010469-G-T c.358G>T p.A120S Missense 4/19 - 19
1-12010474-G-C c.363G>C p.R121S Missense 4/19 - 1
1-12010476-G-A c.365G>A p.S122N Missense 4/19 - 1
1-12010478-C-T c.367C>T p.Q123* Nonsense 4/19 - 3
1-12010479-A-G c.368A>G p.Q123R Missense 4/19 - 2
1-12010480-G-C c.369G>C p.Q123H Missense 4/19 - 2
1-12010480-G-T c.369G>T p.Q123H Missense 4/19 - 3
1-12010482-T-C c.371T>C p.V124A Missense 4/19 - 1
1-12010484-G-C c.373G>C p.V125L Missense 4/19 - 1
1-12010487-T-C c.376T>C p.F126L Missense 4/19 - 5
1-12010487-T-G c.376T>G p.F126V Missense 4/19 - 4
1-12010491-C-T c.380C>T p.S127F Missense 4/19 - 2
1-12010497-A-G c.386A>G p.E129G Missense 4/19 - 1
1-12010498-G-A c.387G>A p.E129= Synonymous 4/19 - 4
1-12010499-G-A c.388G>A p.E130K Missense 4/19 - 1
1-12010501-G-A c.390G>A p.E130= Synonymous 4/19 - 1
1-12010511-C-A c.400C>A p.P134T Missense 4/19 - 1
1-12010512-C-T c.401C>T p.P134L Missense 4/19 - 1
1-12010514-G-T c.403G>T p.D135Y Missense 4/19 - 1
1-12010512-CAGACCGCAGGCTGGAGACCA-C c.404_423del p.D135Vfs*75 Frameshift 4/19 - 1
1-12010516-C-T c.405C>T p.D135= Synonymous 4/19 - 1
1-12010518-G-A c.407G>A p.R136H Missense 4/19 - 1
1-12010523-C-A c.412C>A p.L138M Missense 4/19 - 1
1-12010523-C-G c.412C>G p.L138V Missense 4/19 - 2
1-12010523-C-T c.412C>T p.L138= Synonymous 4/19 - 1
1-12010525-G-A c.414G>A p.L138= Synonymous 4/19 - 1
1-12010525-G-C c.414G>C p.L138= Synonymous 4/19 - 1
1-12010525-G-T c.414G>T p.L138= Synonymous 4/19 - 1
1-12010526-G-C c.415G>C p.E139Q Missense 4/19 - 1
1-12010529-A-G c.418A>G p.T140A Missense 4/19 - 1
1-12010530-CC-TG c.419_420delinsTG p.T140M Missense 4/19 - 1
1-12010537-T-A c.426T>A p.Y142* Nonsense 4/19 - 1
1-12010537-T-G c.426T>G p.Y142* Nonsense 4/19 - 1
1-12010539-C-T c.428C>T p.P143L Missense 4/19 - 2
1-12010553-G-A c.442G>A p.G148S Missense 4/19 - 1
1-12010560-G-C c.449G>C p.R150T Missense 4/19 - 1
1-12010567-G-T c.456G>T p.L152= Synonymous 4/19 - 1
1-12010578-G-A c.466+1G>A - IntronicSNV - 4/18 1
1-12010599-C-A c.466+22C>A - IntronicSNV - 4/18 1
1-12010599-C-T c.466+22C>T - IntronicSNV - 4/18 1
1-12010778-A-G c.466+201A>G - IntronicSNV - 4/18 2
1-12012328-G-A c.467-352G>A - IntronicSNV - 4/18 1
1-12012409-A-G c.467-271A>G - IntronicSNV - 4/18 1
1-12012687-C-G c.474C>G p.I158M Missense 5/19 - 1
1-12012687-C-T c.474C>T p.I158= Synonymous 5/19 - 1
1-12012688-G-A c.475G>A p.G159S Missense 5/19 - 1
1-12012700-AAC-CAA c.487_489delinsCAA p.N163Q Missense 5/19 - 1
1-12012707-G-A c.494G>A p.S165N Missense 5/19 - 1
1-12012707-G-C c.494G>C p.S165T Missense 5/19 - 1
1-12012715-G-A c.502G>A p.V168M Missense 5/19 - 1
1-12012719-C-T c.506C>T p.A169V Missense 5/19 - 2
1-12012721-G-A c.508G>A p.E170K Missense 5/19 - 2
1-12012721-G-C c.508G>C p.E170Q Missense 5/19 - 1
1-12012722-A-T c.509A>T p.E170V Missense 5/19 - 1
1-12012734-A-G c.521A>G p.Q174R Missense 5/19 - 1
1-12012737-A-G c.524A>G p.D175G Missense 5/19 - 1
1-12012746-G-C c.533G>C p.S178T Missense 5/19 - 1
1-12012747-C-A c.534C>A p.S178R Missense 5/19 - 1
1-12012747-C-T c.534C>T p.S178= Synonymous 5/19 - 1
1-12012748-G-A c.535G>A p.D179N Missense 5/19 - 1
1-12012748-G-C c.535G>C p.D179H Missense 5/19 - 1
1-12012748-G-T c.535G>T p.D179Y Missense 5/19 - 1
1-12012751-C-G c.538C>G p.Q180E Missense 5/19 - 5
1-12012751-C-T c.538C>T p.Q180* Nonsense 5/19 - 1
1-12012753-G-A c.540G>A p.Q180= Synonymous 5/19 - 1
1-12012763-CA-C c.550del p.T184Pfs*43 Frameshift 5/19 - 1
1-12012766-A-G c.553A>G p.K185E Missense 5/19 - 1
1-12012768-G-A c.555G>A p.K185= Synonymous 5/19 - 1
1-12012768-G-C c.555G>C p.K185N Missense 5/19 - 4
1-12012768-G-T c.555G>T p.K185N Missense 5/19 - 6
1-12012771-C-A c.558C>A p.I186= Synonymous 5/19 - 1
1-12012771-C-G c.558C>G p.I186M Missense 5/19 - 1
1-12012771-C-T c.558C>T p.I186= Synonymous 5/19 - 1
1-12012773-T-C c.560T>C p.F187S Missense 5/19 - 1
1-12012777-G-C c.564G>C p.L188F Missense 5/19 - 1
1-12012776-TGGACCC-T c.567_572del p.D189_P190del InFrameDeletion 5/19 - 1
1-12012782-C-G c.569C>G p.P190R Missense 5/19 - 1
1-12012782-C-T c.569C>T p.P190L Missense 5/19 - 1
1-12012783-G-A c.570G>A p.P190= Synonymous 5/19 - 1
1-12012783-G-C c.570G>C p.P190= Synonymous 5/19 - 1
1-12012783-G-T c.570G>T p.P190= Synonymous 5/19 - 1
1-12012789-G-C c.576G>C p.K192N Missense 5/19 - 1
1-12012789-G-T c.576G>T p.K192N Missense 5/19 - 1
1-12012790-AGG-CAT c.577_579delinsCAT p.R193H Missense 5/19 - 1
1-12012790-A-C c.577A>C p.R193= Synonymous 5/19 - 1
1-12012790-AGG-A c.579_579+1del - SpliceDonorDeletion 5/19 5/18 1
1-12012792-G-A c.579G>A p.R193= Synonymous 5/19 - 3
1-12012793-G-A c.579+1G>A - IntronicSNV - 5/18 2
1-12012793-G-T c.579+1G>T - IntronicSNV - 5/18 1
1-12012980-G-A c.579+188G>A - IntronicSNV - 5/18 2
1-12014458-G-A c.580-429G>A - IntronicSNV - 5/18 1
1-12014887-G-C c.580G>C p.E194Q Missense 6/19 - 1
1-12014891-A-G c.584A>G p.Q195R Missense 6/19 - 1
1-12014894-T-G c.587T>G p.I196S Missense 6/19 - 1
1-12014896-AAT-CAA c.589_591delinsCAA p.N197Q Missense 6/19 - 1
1-12014903-C-T c.596C>T p.T199I Missense 6/19 - 1
1-12014908-G-A c.601G>A p.D201N Missense 6/19 - 1
1-12014910-C-A c.603C>A p.D201E Missense 6/19 - 1
1-12014914-C-A c.607C>A p.R203S Missense 6/19 - 1
1-12014914-C-T c.607C>T p.R203C Missense 6/19 - 3
1-12014915-G-A c.608G>A p.R203H Missense 6/19 - 2
1-12014916-C-T c.609C>T p.R203= Synonymous 6/19 - 1
1-12014920-C-G c.613C>G p.R205G Missense 6/19 - 2
1-12014920-CGT-TGA c.613_615delinsTGA p.R205* Nonsense 6/19 - 1
1-12014920-C-T c.613C>T p.R205C Missense 6/19 - 2
1-12014921-G-A c.614G>A p.R205H Missense 6/19 - 1
1-12014921-G-T c.614G>T p.R205L Missense 6/19 - 1
1-12014924-T-C c.617T>C p.I206T Missense 6/19 - 1
1-12014927-T-C c.620T>C p.F207S Missense 6/19 - 1
1-12014932-A-G c.625A>G p.N209D Missense 6/19 - 1
1-12014936-T-C c.629T>C p.L210P Missense 6/19 - 1
1-12014942-G-A c.635G>A p.G212E Missense 6/19 - 1
1-12014942-GA-AC c.635_636delinsAC p.G212D Missense 6/19 - 1
1-12014943-A-C c.636A>C p.G212= Synonymous 6/19 - 1
1-12014943-A-G c.636A>G p.G212= Synonymous 6/19 - 1
1-12014943-A-T c.636A>T p.G212= Synonymous 6/19 - 1
1-12014944-G-T c.637G>T p.A213S Missense 6/19 - 1
1-12014948-T-A c.641T>A p.L214* Nonsense 6/19 - 2
1-12014951-G-A c.643+1G>A - IntronicSNV - 6/18 1
1-12014952-T-C c.643+2T>C - IntronicSNV - 6/18 1
1-12014965-C-T c.643+15C>T - IntronicSNV - 6/18 1
1-12015154-G-A c.643+204G>A - IntronicSNV - 6/18 2
1-12016772-T-C c.644-202T>C - IntronicSNV - 6/18 2
1-12016772-T-G c.644-202T>G - IntronicSNV - 6/18 2
1-12016946-G-A c.644-28G>A - IntronicSNV - 6/18 1
1-12016957-T-C c.644-17T>C - IntronicSNV - 6/18 6
1-12016957-T-G c.644-17T>G - IntronicSNV - 6/18 6
1-12016974-A-C c.644A>C p.D215A Missense 7/19 - 1
1-12016977-A-T c.647A>T p.E216V Missense 7/19 - 1
1-12016978-G-T c.648G>T p.E216D Missense 7/19 - 1
1-12016981-C-T c.651C>T p.V217= Synonymous 7/19 - 2
1-12016982-CG-C c.652del p.V218Cfs*9 Frameshift 7/19 - 1
1-12016982-G-A c.652G>A p.V218M Missense 7/19 - 5
1-12016982-G-T c.652G>T p.V218L Missense 7/19 - 2
1-12016992-T-C c.662T>C p.F221S Missense 7/19 - 1
1-12016994-G-C c.664G>C p.E222Q Missense 7/19 - 1
1-12016998-T-C c.668T>C p.M223T Missense 7/19 - 2
1-12017002-C-A c.672C>A p.G224= Synonymous 7/19 - 1
1-12017002-C-G c.672C>G p.G224= Synonymous 7/19 - 1
1-12017002-C-T c.672C>T p.G224= Synonymous 7/19 - 1
1-12017003-CA-AG c.673_674delinsAG p.H225S Missense 7/19 - 1
1-12017003-C-T c.673C>T p.H225Y Missense 7/19 - 2
1-12017004-A-G c.674A>G p.H225R Missense 7/19 - 3
1-12017006-G-A c.676G>A p.V226M Missense 7/19 - 3
1-12017007-T-C c.677T>C p.V226A Missense 7/19 - 1
1-12017008-G-A c.678G>A p.V226= Synonymous 7/19 - 3
1-12017008-G-C c.678G>C p.V226= Synonymous 7/19 - 1
1-12017008-G-T c.678G>T p.V226= Synonymous 7/19 - 1
1-12017013-C-A c.683C>A p.A228E Missense 7/19 - 1
1-12017013-C-T c.683C>T p.A228V Missense 7/19 - 2
1-12017015-AG-CA c.685_686delinsCA p.R229Q Missense 7/19 - 1
1-12017015-A-C c.685A>C p.R229= Synonymous 7/19 - 1
1-12017017-G-A c.687G>A p.R229= Synonymous 7/19 - 1
1-12017022-T-A c.692T>A p.L231Q Missense 7/19 - 1
1-12017024-G-A c.694G>A p.A232T Missense 7/19 - 1
1-12017025-C-T c.695C>T p.A232V Missense 7/19 - 2
1-12017030-G-A c.700G>A p.D234N Missense 7/19 - 1
1-12017033-A-G c.703A>G p.T235A Missense 7/19 - 2
1-12017036-C-A c.706C>A p.L236I Missense 7/19 - 1
1-12017036-C-G c.706C>G p.L236V Missense 7/19 - 1
1-12017040-C-T c.710C>T p.P237L Missense 7/19 - 3
1-12017042-G-A c.712G>A p.V238I Missense 7/19 - 3
1-12017043-T-C c.713T>C p.V238A Missense 7/19 - 1
1-12017045-C-G c.715C>G p.L239V Missense 7/19 - 1
1-12017048-A-C c.718A>C p.I240L Missense 7/19 - 1
1-12017050-C-G c.720C>G p.I240M Missense 7/19 - 1
1-12017051-CA-AG c.721_722delinsAG p.H241S Missense 7/19 - 1
1-12017054-G-A c.724G>A p.G242S Missense 7/19 - 5
1-12017059-C-T c.729C>T p.N243= Synonymous 7/19 - 7
1-12017060-G-A c.730G>A p.G244R Missense 7/19 - 1
1-12017060-G-C c.730G>C p.G244R Missense 7/19 - 1
1-12017061-G-A c.731G>A p.G244E Missense 7/19 - 1
1-12017063-C-A c.733C>A p.P245T Missense 7/19 - 1
1-12017068-C-A c.738C>A p.T246= Synonymous 7/19 - 1
1-12017068-C-G c.738C>G p.T246= Synonymous 7/19 - 1
1-12017068-C-T c.738C>T p.T246= Synonymous 7/19 - 1
1-12017070-A-G c.740A>G p.K247R Missense 7/19 - 1
1-12017158-G-A c.741+87G>A - IntronicSNV - 7/18 2
1-12017159-G-T c.741+88G>T - IntronicSNV - 7/18 1
1-12017170-C-T c.741+99C>T - IntronicSNV - 7/18 1
1-12017179-G-T c.741+108G>T - IntronicSNV - 7/18 1
1-12017186-A-G c.741+115A>G - IntronicSNV - 7/18 1
1-12017201-C-T c.741+130C>T - IntronicSNV - 7/18 1
1-12017210-C-T c.741+139C>T - IntronicSNV - 7/18 1
1-12017228-T-C c.741+157T>C - IntronicSNV - 7/18 1
1-12017228-T-G c.741+157T>G - IntronicSNV - 7/18 1
1-12017479-C-T c.741+408C>T - IntronicSNV - 7/18 2
1-12017907-G-C c.750G>C p.L250F Missense 8/19 - 1
1-12017907-G-T c.750G>T p.L250F Missense 8/19 - 1
1-12017909-A-C c.752A>C p.N251T Missense 8/19 - 1
1-12017914-C-A c.757C>A p.L253M Missense 8/19 - 1
1-12017915-T-C c.758T>C p.L253P Missense 8/19 - 2
1-12017918-G-A c.761G>A p.G254D Missense 8/19 - 1
1-12017919-C-T c.762C>T p.G254= Synonymous 8/19 - 1
1-12017920-A-G c.763A>G p.N255D Missense 8/19 - 1
1-12017921-A-G c.764A>G p.N255S Missense 8/19 - 1
1-12017928-C-A c.771C>A p.I257= Synonymous 8/19 - 1
1-12017928-C-G c.771C>G p.I257M Missense 8/19 - 1
1-12017928-C-T c.771C>T p.I257= Synonymous 8/19 - 2
1-12017929-C-T c.772C>T p.P258S Missense 8/19 - 4
1-12017930-C-T c.773C>T p.P258L Missense 8/19 - 1
1-12017931-G-A c.774G>A p.P258= Synonymous 8/19 - 3
1-12017931-G-C c.774G>C p.P258= Synonymous 8/19 - 2
1-12017931-G-T c.774G>T p.P258= Synonymous 8/19 - 2
1-12017933-G-A c.776G>A p.R259H Missense 8/19 - 3
1-12017935-T-C c.778T>C p.F260L Missense 8/19 - 1
1-12017937-C-A c.780C>A p.F260L Missense 8/19 - 1
1-12017937-C-G c.780C>G p.F260L Missense 8/19 - 1
1-12017937-C-T c.780C>T p.F260= Synonymous 8/19 - 2
1-12017942-C-T c.785C>T p.T262I Missense 8/19 - 1
1-12017946-C-T c.789C>T p.F263= Synonymous 8/19 - 1
1-12017947-G-A c.790G>A p.E264K Missense 8/19 - 2
1-12017947-G-C c.790G>C p.E264Q Missense 8/19 - 1
1-12017953-G-A c.796G>A p.G266S Missense 8/19 - 1
1-12017954-G-A c.797G>A p.G266D Missense 8/19 - 1
1-12017954-G-T c.797G>T p.G266V Missense 8/19 - 1
1-12017959-A-G c.802A>G p.T268A Missense 8/19 - 1
1-12017961-C-A c.804C>A p.T268= Synonymous 8/19 - 1
1-12017961-C-G c.804C>G p.T268= Synonymous 8/19 - 1
1-12017961-C-T c.804C>T p.T268= Synonymous 8/19 - 2
1-12017962-G-A c.805G>A p.V269M Missense 8/19 - 3
1-12017962-G-T c.805G>T p.V269L Missense 8/19 - 1
1-12017965-T-A c.808T>A p.C270S Missense 8/19 - 1
1-12017967-T-A c.810T>A p.C270* Nonsense 8/19 - 1
1-12017970-C-T c.813C>T p.D271= Synonymous 8/19 - 1
1-12017971-CGAAGG-C c.814_818del p.E272Lfs*10 Frameshift 8/19 - 1
1-12017977-T-G c.820T>G p.L274V Missense 8/19 - 1
1-12017980-C-T c.823C>T p.R275C Missense 8/19 - 1
1-12017982-C-A c.825C>A p.R275= Synonymous 8/19 - 1
1-12017982-C-G c.825C>G p.R275= Synonymous 8/19 - 1
1-12017982-C-T c.825C>T p.R275= Synonymous 8/19 - 1
1-12017983-A-G c.826A>G p.S276G Missense 8/19 - 1
1-12017986-C-A c.829C>A p.L277I Missense 8/19 - 1
1-12017987-T-TCACCC c.832_833insCCCCA p.K278Tfs*72 Frameshift 8/19 - 1
1-12017991-G-T c.834G>T p.K278N Missense 8/19 - 1
1-12017993-G-A c.836G>A p.G279D Missense 8/19 - 1
1-12017993-G-C c.836G>C p.G279A Missense 8/19 - 1
1-12017995-A-C c.838A>C p.I280L Missense 8/19 - 1
1-12017996-T-C c.839T>C p.I280T Missense 8/19 - 2
1-12017998-G-A c.841G>A p.G281R Missense 8/19 - 1
1-12017998-G-C c.841G>C p.G281R Missense 8/19 - 1
1-12017996-TTGGGG-T c.842_843+3del - SpliceDonorDeletion 8/19 8/18 1
1-12017997-TG-T c.843+1del - IntronicDeletion - 8/18 2
1-12018007-C-G c.843+7C>G - IntronicSNV - 8/18 1
1-12018017-G-A c.843+17G>A - IntronicSNV - 8/18 1
1-12018017-G-C c.843+17G>C - IntronicSNV - 8/18 1
1-12018017-G-T c.843+17G>T - IntronicSNV - 8/18 1
1-12018261-C-T c.843+261C>T - IntronicSNV - 8/18 1
1-12018290-T-C c.844-283T>C - IntronicSNV - 8/18 3
1-12018378-C-G c.844-195C>G - IntronicSNV - 8/18 2
1-12018378-C-T c.844-195C>T - IntronicSNV - 8/18 2
1-12018574-A-T c.845A>T p.D282V Missense 9/19 - 1
1-12018579-G-C c.850G>C p.A284P Missense 9/19 - 1
1-12018583-T-G c.854T>G p.L285R Missense 9/19 - 1
1-12018582-C-T c.853C>T p.L285= Synonymous 9/19 - 1
1-12018584-G-A c.855G>A p.L285= Synonymous 9/19 - 1
1-12018584-G-C c.855G>C p.L285= Synonymous 9/19 - 1
1-12018584-G-T c.855G>T p.L285= Synonymous 9/19 - 1
1-12018586-C-A c.857C>A p.P286H Missense 9/19 - 1
1-12018587-C-G c.858C>G p.P286= Synonymous 9/19 - 1
1-12018589-C-T c.860C>T p.T287M Missense 9/19 - 1
1-12018591-G-A c.862G>A p.V288I Missense 9/19 - 2
1-12018591-GTC-ATG c.862_864delinsATG p.V288M Missense 9/19 - 1
1-12018600-G-A c.871G>A p.G291S Missense 9/19 - 2
1-12018603-G-A c.874G>A p.V292M Missense 9/19 - 2
1-12018610-T-C c.881T>C p.I294T Missense 9/19 - 1
1-12018611-C-G c.882C>G p.I294M Missense 9/19 - 1
1-12018612-G-A c.883G>A p.E295K Missense 9/19 - 2
1-12018612-G-T c.883G>T p.E295* Nonsense 9/19 - 1
1-12018615-C-A c.886C>A p.Q296K Missense 9/19 - 1
1-12018617-G-C c.888G>C p.Q296H Missense 9/19 - 1
1-12018618-C-T c.889C>T p.P297S Missense 9/19 - 1
1-12018617-GC-G c.891del p.T298Rfs*50 Frameshift 9/19 - 1
1-12018624-C-T c.895C>T p.P299S Missense 9/19 - 1
1-12018630-G-A c.901G>A p.V301M Missense 9/19 - 1
1-12018630-GTG-ATC c.901_903delinsATC p.V301I Missense 9/19 - 1
1-12018634-C-A c.905C>A p.S302Y Missense 9/19 - 1
1-12018639-T-C c.910T>C p.F304L Missense 9/19 - 1
1-12018648-C-T c.919C>T p.R307W Missense 9/19 - 4
1-12018649-G-A c.920G>A p.R307Q Missense 9/19 - 2
1-12018650-GCTCCTGCGGCTC-G c.923_934del p.L308_L311del InFrameDeletion 9/19 - 1
1-12018653-C-A c.924C>A p.L308= Synonymous 9/19 - 2
1-12018653-C-G c.924C>G p.L308= Synonymous 9/19 - 2
1-12018653-C-T c.924C>T p.L308= Synonymous 9/19 - 3
1-12018646-AGCGGCTCCT-A c.926_934del p.L309_L311del InFrameDeletion 9/19 - 1
1-12018655-T-C c.926T>C p.L309P Missense 9/19 - 1
1-12018657-C-T c.928C>T p.R310W Missense 9/19 - 2
1-12018660-C-T c.931C>T p.L311F Missense 9/19 - 1
1-12018659-GCTC-G c.932_934del p.L311del InFrameDeletion 9/19 - 1
1-12018662-C-T c.933C>T p.L311= Synonymous 9/19 - 2
1-12018664-A-T c.935A>T p.H312L Missense 9/19 - 1
1-12018665-C-T c.936C>T p.H312= Synonymous 9/19 - 1
1-12018666-TACCCCC-T c.939_944del p.Y313_Q315delins* MultiAAMissense 9/19 - 1
1-12018668-C-G c.939C>G p.Y313* Nonsense 9/19 - 2
1-12018668-C-T c.939C>T p.Y313= Synonymous 9/19 - 1
1-12018672-C-G c.943C>G p.Q315E Missense 9/19 - 1
1-12018674-G-A c.945G>A p.Q315= Synonymous 9/19 - 1
1-12018684-CG-GC c.955_956delinsGC p.R319A Missense 9/19 - 1
1-12018684-C-T c.955C>T p.R319* Nonsense 9/19 - 10
1-12018685-G-T c.956G>T p.R319L Missense 9/19 - 1
1-12018690-T-C c.961T>C p.F321L Missense 9/19 - 1
1-12018692-C-T c.963C>T p.F321= Synonymous 9/19 - 4
1-12018696-C-T c.967C>T p.H323Y Missense 9/19 - 1
1-12018699-A-G c.970A>G p.N324D Missense 9/19 - 1
1-12018700-A-G c.971A>G p.N324S Missense 9/19 - 1
1-12018702-C-T c.973C>T p.H325Y Missense 9/19 - 1
1-12018704-C-T c.975C>T p.H325= Synonymous 9/19 - 1
1-12018705-G-C c.975+1G>C - IntronicSNV - 9/18 1
1-12018887-A-T c.975+183A>T - IntronicSNV - 9/18 1
1-12019369-C-T c.975+665C>T - IntronicSNV - 9/18 1
1-12020675-G-A c.976-28G>A - IntronicSNV - 9/18 1
1-12020675-G-T c.976-28G>T - IntronicSNV - 9/18 1
1-12020703-G-A c.976G>A p.E326K Missense 10/19 - 2
1-12020705-G-T c.978G>T p.E326D Missense 10/19 - 1
1-12020706-C-T c.979C>T p.Q327* Nonsense 10/19 - 2
1-12020712-C-T c.985C>T p.H329Y Missense 10/19 - 1
1-12020715-A-C c.988A>C p.K330Q Missense 10/19 - 1
1-12020717-G-A c.990G>A p.K330= Synonymous 10/19 - 1
1-12020718-G-T c.991G>T p.A331S Missense 10/19 - 1
1-12020721-C-T c.994C>T p.Q332* Nonsense 10/19 - 3
1-12020724-G-C c.997G>C p.V333L Missense 10/19 - 1
1-12020724-G-T c.997G>T p.V333L Missense 10/19 - 1
1-12020730-G-C c.1003G>C p.E335Q Missense 10/19 - 2
1-12020740-C-T c.1013C>T p.A338V Missense 10/19 - 1
1-12020742-C-T c.1015C>T p.Q339* Nonsense 10/19 - 2
1-12020749-G-A c.1022G>A p.G341D Missense 10/19 - 1
1-12020749-G-C c.1022G>C p.G341A Missense 10/19 - 1
1-12020752-G-A c.1025G>A p.S342N Missense 10/19 - 1
1-12020754-G-A c.1027G>A p.E343K Missense 10/19 - 1
1-12020758-A-G c.1031A>G p.Y344C Missense 10/19 - 1
1-12020758-A-T c.1031A>T p.Y344F Missense 10/19 - 1
1-12020760-C-T c.1033C>T p.Q345* Nonsense 10/19 - 2
1-12020767-T-C c.1040T>C p.V347A Missense 10/19 - 1
1-12020778-G-T c.1051G>T p.G351C Missense 10/19 - 1
1-12020779-G-C c.1052G>C p.G351A Missense 10/19 - 1
1-12020780-C-A c.1053C>A p.G351= Synonymous 10/19 - 2
1-12020780-C-G c.1053C>G p.G351= Synonymous 10/19 - 1
1-12020780-C-T c.1053C>T p.G351= Synonymous 10/19 - 1
1-12020784-G-A c.1057G>A p.E353K Missense 10/19 - 2
1-12020791-G-A c.1064G>A p.R355Q Missense 10/19 - 1
1-12020794-T-C c.1067T>C p.M356T Missense 10/19 - 1
1-12020795-G-A c.1068G>A p.M356I Missense 10/19 - 1
1-12020797-C-T c.1070C>T p.A357V Missense 10/19 - 1
1-12020800-A-G c.1073A>G p.N358S Missense 10/19 - 1
1-12020803-C-T c.1076C>T p.A359V Missense 10/19 - 1
1-12020804-A-C c.1077A>C p.A359= Synonymous 10/19 - 1
1-12020804-A-G c.1077A>G p.A359= Synonymous 10/19 - 1
1-12020804-A-T c.1077A>T p.A359= Synonymous 10/19 - 1
1-12020808-GC-CA c.1081_1082delinsCA p.A361H Missense 10/19 - 1
1-12020809-C-G c.1082C>G p.A361G Missense 10/19 - 1
1-12020817-A-G c.1090A>G p.M364V Missense 10/19 - 1
1-12020819-G-T c.1092G>T p.M364I Missense 10/19 - 1
1-12020820-G-A c.1093G>A p.G365S Missense 10/19 - 1
1-12020818-TG-T c.1094del p.G365Afs*23 Frameshift 10/19 - 1
1-12020822-C-T c.1095C>T p.G365= Synonymous 10/19 - 3
1-12020823-G-A c.1096G>A p.A366T Missense 10/19 - 2
1-12021044-T-C c.1097+220T>C - IntronicSNV - 10/18 2
1-12021105-G-A c.1097+281G>A - IntronicSNV - 10/18 1
1-12023218-T-C c.1098-371T>C - IntronicSNV - 10/18 1
1-12023500-G-A c.1098-89G>A - IntronicSNV - 10/18 1
1-12023591-A-C c.1100A>C p.D367A Missense 11/19 - 1
1-12023593-C-G c.1102C>G p.L368V Missense 11/19 - 1
1-12023598-C-T c.1107C>T p.C369= Synonymous 11/19 - 1
1-12023599-C-T c.1108C>T p.R370W Missense 11/19 - 1
1-12023608-C-A c.1117C>A p.R373S Missense 11/19 - 1
1-12023608-C-T c.1117C>T p.R373C Missense 11/19 - 2
1-12023609-G-T c.1118G>T p.R373L Missense 11/19 - 1
1-12023612-G-A c.1121G>A p.S374N Missense 11/19 - 4
1-12023613-C-T c.1122C>T p.S374= Synonymous 11/19 - 1
1-12023620-T-C c.1129T>C p.Y377H Missense 11/19 - 1
1-12023621-A-C c.1130A>C p.Y377S Missense 11/19 - 2
1-12023632-G-A c.1141G>A p.V381M Missense 11/19 - 1
1-12023638-G-T c.1147G>T p.A383S Missense 11/19 - 3
1-12023642-A-C c.1151A>C p.D384A Missense 11/19 - 2
1-12023649-C-T c.1158C>T p.A386= Synonymous 11/19 - 1
1-12023655-C-T c.1164C>T p.T388= Synonymous 11/19 - 1
1-12023656-G-A c.1165G>A p.E389K Missense 11/19 - 2
1-12023662-A-G c.1171A>G p.N391D Missense 11/19 - 1
1-12023663-A-G c.1172A>G p.N391S Missense 11/19 - 1
1-12023671-C-T c.1180C>T p.R394W Missense 11/19 - 2
1-12023672-G-A c.1181G>A p.R394Q Missense 11/19 - 2
1-12024038-G-A c.1203-194G>A - IntronicSNV - 11/18 1
1-12024038-G-T c.1203-194G>T - IntronicSNV - 11/18 1
1-12024077-C-A c.1203-155C>A - IntronicSNV - 11/18 1
1-12024235-C-A c.1206C>A p.N402K Missense 12/19 - 4
1-12024235-C-T c.1206C>T p.N402= Synonymous 12/19 - 26
1-12024236-G-A c.1207G>A p.V403I Missense 12/19 - 1
1-12024245-C-A c.1216C>A p.P406T Missense 12/19 - 1
1-12024245-C-T c.1216C>T p.P406S Missense 12/19 - 2
1-12024246-C-A c.1217C>A p.P406Q Missense 12/19 - 1
1-12024246-C-T c.1217C>T p.P406L Missense 12/19 - 3
1-12024253-G-A c.1224G>A p.M408I Missense 12/19 - 1
1-12024253-G-C c.1224G>C p.M408I Missense 12/19 - 1
1-12024254-A-G c.1225A>G p.T409A Missense 12/19 - 1
1-12024256-C-A c.1227C>A p.T409= Synonymous 12/19 - 1
1-12024256-C-G c.1227C>G p.T409= Synonymous 12/19 - 1
1-12024256-C-T c.1227C>T p.T409= Synonymous 12/19 - 1
1-12024254-AC-A c.1228del p.R410Gfs*47 Frameshift 12/19 - 1
1-12024257-C-T c.1228C>T p.R410W Missense 12/19 - 3
1-12024258-G-A c.1229G>A p.R410Q Missense 12/19 - 1
1-12024263-G-A c.1234G>A p.G412R Missense 12/19 - 1
1-12024263-GGG-AGC c.1234_1236delinsAGC p.G412S Missense 12/19 - 1
1-12024276-C-T c.1247C>T p.S416L Missense 12/19 - 3
1-12024277-G-A c.1248G>A p.S416= Synonymous 12/19 - 1
1-12024277-G-C c.1248G>C p.S416= Synonymous 12/19 - 1
1-12024277-G-T c.1248G>T p.S416= Synonymous 12/19 - 1
1-12024280-C-T c.1251C>T p.N417= Synonymous 12/19 - 3
1-12024284-T-C c.1255T>C p.W419R Missense 12/19 - 2
1-12024285-G-C c.1256G>C p.W419S Missense 12/19 - 1
1-12024285-G-T c.1256G>T p.W419L Missense 12/19 - 1
1-12024288-G-A c.1259G>A p.G420E Missense 12/19 - 3
1-12024284-T-TG c.1261dup p.A421Gfs*45 Frameshift 12/19 - 1
1-12024291-C-G c.1262C>G p.A421G Missense 12/19 - 1
1-12024291-C-T c.1262C>T p.A421V Missense 12/19 - 1
1-12024295-C-A c.1266C>A p.L422= Synonymous 12/19 - 1
1-12024295-C-G c.1266C>G p.L422= Synonymous 12/19 - 1
1-12024295-C-T c.1266C>T p.L422= Synonymous 12/19 - 1
1-12024297-G-T c.1268G>T p.S423I Missense 12/19 - 1
1-12024305-G-T c.1276G>T p.G426C Missense 12/19 - 1
1-12024308-T-C c.1279T>C p.Y427H Missense 12/19 - 1
1-12024314-G-A c.1285G>A p.A429T Missense 12/19 - 3
1-12024315-C-T c.1286C>T p.A429V Missense 12/19 - 2
1-12024316-C-T c.1287C>T p.A429= Synonymous 12/19 - 1
1-12024317-C-T c.1288C>T p.R430C Missense 12/19 - 1
1-12024322-C-T c.1293C>T p.S431= Synonymous 12/19 - 1
1-12024323-G-A c.1294G>A p.E432K Missense 12/19 - 3
1-12024323-G-C c.1294G>C p.E432Q Missense 12/19 - 1
1-12024324-A-G c.1295A>G p.E432G Missense 12/19 - 1
1-12024328-C-T c.1299C>T p.D433= Synonymous 12/19 - 1
1-12024331-C-G c.1302C>G p.Y434* Nonsense 12/19 - 1
1-12024332-G-A c.1303G>A p.V435M Missense 12/19 - 1
1-12024332-GTG-ATC c.1303_1305delinsATC p.V435I Missense 12/19 - 1
1-12024336-A-T c.1307A>T p.D436V Missense 12/19 - 1
1-12024340-T-A c.1311T>A p.I437= Synonymous 12/19 - 1
1-12024340-T-C c.1311T>C p.I437= Synonymous 12/19 - 1
1-12024344-C-G c.1315C>G p.Q439E Missense 12/19 - 1
1-12024347-G-T c.1318G>T p.G440W Missense 12/19 - 1
1-12024350-C-T c.1321C>T p.R441W Missense 12/19 - 3
1-12024351-G-A c.1322G>A p.R441Q Missense 12/19 - 2
1-12024353-C-A c.1324C>A p.R442S Missense 12/19 - 1
1-12024353-C-T c.1324C>T p.R442C Missense 12/19 - 1
1-12024354-G-A c.1325G>A p.R442H Missense 12/19 - 5
1-12024370-A-G c.1328+13A>G - IntronicSNV - 12/18 2
1-12024374-T-G c.1328+17T>G - IntronicSNV - 12/18 2
1-12024380-T-G c.1328+23T>G - IntronicSNV - 12/18 2
1-12024435-A-G c.1328+78A>G - IntronicSNV - 12/18 1
1-12024435-A-T c.1328+78A>T - IntronicSNV - 12/18 1
1-12024607-T-A c.1329-94T>A - IntronicSNV - 12/18 2
1-12024607-T-C c.1329-94T>C - IntronicSNV - 12/18 2
1-12024705-G-C c.1333G>C p.V445L Missense 13/19 - 1
1-12024705-G-T c.1333G>T p.V445F Missense 13/19 - 2
1-12024706-T-G c.1334T>G p.V445G Missense 13/19 - 1
1-12024708-T-G c.1336T>G p.W446G Missense 13/19 - 2
1-12024714-G-A c.1342G>A p.V448M Missense 13/19 - 1
1-12024723-A-G c.1351A>G p.I451V Missense 13/19 - 2
1-12024727-C-A c.1355C>A p.S452* Nonsense 13/19 - 1
1-12024727-C-G c.1355C>G p.S452* Nonsense 13/19 - 2
1-12024727-C-T c.1355C>T p.S452L Missense 13/19 - 1
1-12024730-A-G c.1358A>G p.N453S Missense 13/19 - 1
1-12024732-A-G c.1360A>G p.I454V Missense 13/19 - 1
1-12024732-ATC-TAA c.1360_1362delinsTAA p.I454* Nonsense 13/19 - 1
1-12024734-TC-T c.1362del p.Y455Tfs*2 Frameshift 13/19 - 1
1-12024736-A-G c.1364A>G p.Y455C Missense 13/19 - 1
1-12024737-C-T c.1365C>T p.Y455= Synonymous 13/19 - 1
1-12024738-T-G c.1366T>G p.L456V Missense 13/19 - 1
1-12024740-G-C c.1368G>C p.L456F Missense 13/19 - 1
1-12024740-G-T c.1368G>T p.L456F Missense 13/19 - 1
1-12024743-C-T c.1371C>T p.I457= Synonymous 13/19 - 2
1-12024747-G-A c.1375G>A p.G459S Missense 13/19 - 1
1-12024748-G-A c.1376G>A p.G459D Missense 13/19 - 1
1-12024749-C-T c.1377C>T p.G459= Synonymous 13/19 - 1
1-12024753-G-T c.1381G>T p.A461S Missense 13/19 - 1
1-12024755-C-A c.1383C>A p.A461= Synonymous 13/19 - 1
1-12024755-C-G c.1383C>G p.A461= Synonymous 13/19 - 1
1-12024755-C-T c.1383C>T p.A461= Synonymous 13/19 - 1
1-12024759-CGG-TGT c.1387_1389delinsTGT p.R463C Missense 13/19 - 1
1-12024760-G-A c.1388G>A p.R463Q Missense 13/19 - 4
1-12024760-GG-AT c.1388_1389delinsAT p.R463H Missense 13/19 - 1
1-12024765-G-A c.1393G>A p.E465K Missense 13/19 - 1
1-12024775-C-T c.1403C>T p.S468F Missense 13/19 - 2
1-12024778-C-T c.1406C>T p.S469L Missense 13/19 - 1
1-12024780-G-A c.1408G>A p.D470N Missense 13/19 - 1
1-12024786-T-C c.1414T>C p.F472L Missense 13/19 - 1
1-12024786-TT-GC c.1414_1415delinsGC p.F472A Missense 13/19 - 1
1-12024791-C-A c.1419C>A p.H473Q Missense 13/19 - 1
1-12024791-C-G c.1419C>G p.H473Q Missense 13/19 - 1
1-12024792-CA-AG c.1420_1421delinsAG p.H474S Missense 13/19 - 1
1-12024800-G-A c.1428G>A p.K476= Synonymous 13/19 - 2
1-12024801-C-T c.1429C>T p.L477= Synonymous 13/19 - 2
1-12024803-G-A c.1431G>A p.L477= Synonymous 13/19 - 1
1-12024803-G-C c.1431G>C p.L477= Synonymous 13/19 - 1
1-12024803-G-T c.1431G>T p.L477= Synonymous 13/19 - 1
1-12024809-C-A c.1437C>A p.P479= Synonymous 13/19 - 3
1-12024809-C-G c.1437C>G p.P479= Synonymous 13/19 - 2
1-12024809-C-T c.1437C>T p.P479= Synonymous 13/19 - 1
1-12024810-G-A c.1438G>A p.D480N Missense 13/19 - 4
1-12024816-G-A c.1444G>A p.A482T Missense 13/19 - 1
1-12024817-C-A c.1445C>A p.A482D Missense 13/19 - 1
1-12024817-C-T c.1445C>T p.A482V Missense 13/19 - 1
1-12024828-A-T c.1456A>T p.N486Y Missense 13/19 - 1
1-12024834-C-T c.1462C>T p.R488W Missense 13/19 - 2
1-12024835-G-A c.1463G>A p.R488Q Missense 13/19 - 3
1-12024837-C-G c.1465C>G p.Q489E Missense 13/19 - 1
1-12024839-G-A c.1467G>A p.Q489= Synonymous 13/19 - 1
1-12024844-T-C c.1470+2T>C - IntronicSNV - 13/18 1
1-12024869-C-T c.1470+27C>T - IntronicSNV - 13/18 1
1-12024870-G-A c.1470+28G>A - IntronicSNV - 13/18 1
1-12024870-G-C c.1470+28G>C - IntronicSNV - 13/18 1
1-12024923-T-C c.1470+81T>C - IntronicSNV - 13/18 2
1-12025353-T-C c.1471-184T>C - IntronicSNV - 13/18 6
1-12025529-C-T c.1471-8C>T - IntronicSNV - 13/18 1
1-12025538-A-C c.1472A>C p.D491A Missense 14/19 - 1
1-12025540-G-A c.1474G>A p.V492M Missense 14/19 - 1
1-12025541-T-G c.1475T>G p.V492G Missense 14/19 - 1
1-12025544-T-TC c.1479dup p.M494Hfs*74 Frameshift 14/19 - 1
1-12025546-A-G c.1480A>G p.M494V Missense 14/19 - 2
1-12025551-C-A c.1485C>A p.F495L Missense 14/19 - 1
1-12025551-C-T c.1485C>T p.F495= Synonymous 14/19 - 2
1-12025561-C-A c.1495C>A p.R499= Synonymous 14/19 - 3
1-12025561-C-G c.1495C>G p.R499G Missense 14/19 - 1
1-12025561-CGG-TGT c.1495_1497delinsTGT p.R499C Missense 14/19 - 1
1-12025561-C-T c.1495C>T p.R499W Missense 14/19 - 9
1-12025563-G-A c.1497G>A p.R499= Synonymous 14/19 - 4
1-12025563-G-C c.1497G>C p.R499= Synonymous 14/19 - 3
1-12025563-G-T c.1497G>T p.R499= Synonymous 14/19 - 3
1-12025565-A-T c.1499A>T p.H500L Missense 14/19 - 1
1-12025566-C-T c.1500C>T p.H500= Synonymous 14/19 - 2
1-12025568-C-A c.1502C>A p.T501N Missense 14/19 - 1
1-12025570-C-T c.1504C>T p.L502F Missense 14/19 - 1
1-12025575-C-T c.1509C>T p.G503= Synonymous 14/19 - 3
1-12025582-C-T c.1516C>T p.L506F Missense 14/19 - 1
1-12025586-C-T c.1520C>T p.S507F Missense 14/19 - 7
1-12025587-C-T c.1521C>T p.S507= Synonymous 14/19 - 1
1-12025593-C-G c.1527C>G p.D509E Missense 14/19 - 1
1-12025599-C-A c.1533C>A p.Y511* Nonsense 14/19 - 3
1-12025599-C-G c.1533C>G p.Y511* Nonsense 14/19 - 4
1-12025600-C-T c.1534C>T p.R512C Missense 14/19 - 8
1-12025601-G-A c.1535G>A p.R512H Missense 14/19 - 1
1-12025607-C-T c.1541C>T p.T514I Missense 14/19 - 2
1-12025608-C-T c.1542C>T p.T514= Synonymous 14/19 - 4
1-12025610-A-G c.1544A>G p.H515R Missense 14/19 - 1
1-12025615-CA-AG c.1549_1550delinsAG p.H517S Missense 14/19 - 1
1-12025618-A-G c.1552A>G p.N518D Missense 14/19 - 1
1-12025620-C-A c.1554C>A p.N518K Missense 14/19 - 1
1-12025621-G-A c.1555G>A p.D519N Missense 14/19 - 2
1-12025624-C-T c.1558C>T p.L520F Missense 14/19 - 2
1-12025628-G-A c.1562G>A p.W521* Nonsense 14/19 - 2
1-12025635-G-T c.1569G>T p.V523= Synonymous 14/19 - 1
1-12025641-C-T c.1575C>T p.S525= Synonymous 14/19 - 1
1-12025644-C-G c.1578C>G p.N526K Missense 14/19 - 1
1-12025645-C-G c.1579C>G p.P527A Missense 14/19 - 1
1-12025648-G-A c.1582G>A p.E528K Missense 14/19 - 1
1-12025755-A-G c.1584+105A>G - IntronicSNV - 14/18 1
1-12026090-A-G c.1585-218A>G - IntronicSNV - 14/18 6
1-12026314-AAGG-A c.1594_1596del p.E532del InFrameDeletion 15/19 - 2
1-12026317-G-A c.1594G>A p.E532K Missense 15/19 - 2
1-12026329-CA-AG c.1606_1607delinsAG p.H536S Missense 15/19 - 1
1-12026332-C-T c.1609C>T p.Q537* Nonsense 15/19 - 2
1-12026335-AAC-CAA c.1612_1614delinsCAA p.N538Q Missense 15/19 - 1
1-12026335-A-T c.1612A>T p.N538Y Missense 15/19 - 1
1-12026340-C-A c.1617C>A p.Y539* Nonsense 15/19 - 1
1-12026340-C-G c.1617C>G p.Y539* Nonsense 15/19 - 1
1-12026350-C-T c.1627C>T p.L543= Synonymous 15/19 - 1
1-12026355-A-C c.1632A>C p.A544= Synonymous 15/19 - 9
1-12026355-A-G c.1632A>G p.A544= Synonymous 15/19 - 1
1-12026355-A-T c.1632A>T p.A544= Synonymous 15/19 - 8
1-12026357-G-A c.1634G>A p.G545E Missense 15/19 - 1
1-12026362-C-G c.1639C>G p.L547V Missense 15/19 - 1
1-12026372-C-T c.1649C>T p.T550M Missense 15/19 - 2
1-12026374-G-T c.1650+1G>T - IntronicSNV - 15/18 1
1-12026375-T-A c.1650+2T>A - IntronicSNV - 15/18 1
1-12026404-C-A c.1650+31C>A - IntronicSNV - 15/18 1
1-12027046-C-T c.1653C>T p.P551= Synonymous 16/19 - 2
1-12027047-T-G c.1654T>G p.C552G Missense 16/19 - 1
1-12027050-C-G c.1657C>G p.P553A Missense 16/19 - 2
1-12027050-C-T c.1657C>T p.P553S Missense 16/19 - 1
1-12027051-C-T c.1658C>T p.P553L Missense 16/19 - 1
1-12027052-G-A c.1659G>A p.P553= Synonymous 16/19 - 1
1-12027055-T-C c.1662T>C p.D554= Synonymous 16/19 - 1
1-12027067-C-T c.1674C>T p.F558= Synonymous 16/19 - 4
1-12027068-C-T c.1675C>T p.P559S Missense 16/19 - 8
1-12027069-C-T c.1676C>T p.P559L Missense 16/19 - 1
1-12027073-C-A c.1680C>A p.I560= Synonymous 16/19 - 1
1-12027073-C-T c.1680C>T p.I560= Synonymous 16/19 - 1
1-12027074-T-A c.1681T>A p.F561I Missense 16/19 - 1
1-12027078-C-T c.1685C>T p.T562M Missense 16/19 - 2
1-12027079-G-A c.1686G>A p.T562= Synonymous 16/19 - 2
1-12027079-G-C c.1686G>C p.T562= Synonymous 16/19 - 1
1-12027079-G-T c.1686G>T p.T562= Synonymous 16/19 - 1
1-12027085-G-A c.1692G>A p.V564= Synonymous 16/19 - 1
1-12027087-C-T c.1694C>T p.A565V Missense 16/19 - 1
1-12027090-G-A c.1697G>A p.C566Y Missense 16/19 - 1
1-12027090-G-T c.1697G>T p.C566F Missense 16/19 - 1
1-12027091-T-A c.1698T>A p.C566* Nonsense 16/19 - 1
1-12027091-T-C c.1698T>C p.C566= Synonymous 16/19 - 1
1-12027094-T-G c.1701T>G p.D567E Missense 16/19 - 1
1-12027095-G-A c.1702G>A p.E568K Missense 16/19 - 1
1-12027097-G-A c.1704G>A p.E568= Synonymous 16/19 - 2
1-12027099-T-A c.1706T>A p.L569Q Missense 16/19 - 1
1-12027099-T-C c.1706T>C p.L569P Missense 16/19 - 1
1-12027101-G-A c.1708G>A p.V570M Missense 16/19 - 1
1-12027116-C-A c.1723C>A p.H575N Missense 16/19 - 1
1-12027126-A-T c.1733A>T p.Q578L Missense 16/19 - 2
1-12027137-GGC-TGG c.1744_1746delinsTGG p.G582W Missense 16/19 - 1
1-12027188-G-A c.1755+40G>A - IntronicSNV - 16/18 1
1-12027188-G-C c.1755+40G>C - IntronicSNV - 16/18 1
1-12027204-C-T c.1755+56C>T - IntronicSNV - 16/18 8
1-12027308-G-A c.1755+160G>A - IntronicSNV - 16/18 8
1-12028155-C-T c.1755+1007C>T - IntronicSNV - 16/18 7
1-12028655-C-T c.1755+1507C>T - IntronicSNV - 16/18 5
1-12028865-AC-A c.1755+1719del - IntronicDeletion - 16/18 1
1-12030447-G-A c.1756-280G>A - IntronicSNV - 16/18 4
1-12030714-C-A c.1756-13C>A - IntronicSNV - 16/18 1
1-12030714-C-T c.1756-13C>T - IntronicSNV - 16/18 1
1-12030725-A-AG c.1756dup p.D586Gfs*15 SpliceAcceptorInsertion 17/19 - 1
1-12030727-G-A c.1756G>A p.D586N Missense 17/19 - 1
1-12030726-GGACAACCGCATCCAGGGTGGCTACGAGAACGTGCCGACTATTGACATCCACATGAACCA-G c.1758_1816del p.N587Rfs*3 Unclassified 17/19 - 1
1-12030729-AC-A c.1758del p.D586Efs*18 Frameshift 17/19 - 1
1-12030731-A-C c.1760A>C p.N587T Missense 17/19 - 1
1-12030732-C-G c.1761C>G p.N587K Missense 17/19 - 1
1-12030734-G-A c.1763G>A p.R588H Missense 17/19 - 2
1-12030738-C-G c.1767C>G p.I589M Missense 17/19 - 1
1-12030738-C-T c.1767C>T p.I589= Synonymous 17/19 - 3
1-12030741-G-T c.1770G>T p.Q590H Missense 17/19 - 1
1-12030742-G-T c.1771G>T p.G591C Missense 17/19 - 1
1-12030748-T-C c.1777T>C p.Y593H Missense 17/19 - 1
1-12030752-A-G c.1781A>G p.E594G Missense 17/19 - 1
1-12030752-A-T c.1781A>T p.E594V Missense 17/19 - 1
1-12030757-G-A c.1786G>A p.V596M Missense 17/19 - 5
1-12030757-G-T c.1786G>T p.V596L Missense 17/19 - 1
1-12030759-G-A c.1788G>A p.V596= Synonymous 17/19 - 1
1-12030759-G-C c.1788G>C p.V596= Synonymous 17/19 - 2
1-12030759-G-T c.1788G>T p.V596= Synonymous 17/19 - 2
1-12030760-C-T c.1789C>T p.P597S Missense 17/19 - 2
1-12030763-AC-GG c.1792_1793delinsGG p.T598G Missense 17/19 - 1
1-12030766-A-G c.1795A>G p.I599V Missense 17/19 - 1
1-12030766-TA-T c.1795del p.I599Lfs*5 Frameshift 17/19 - 1
1-12030771-C-T c.1800C>T p.D600= Synonymous 17/19 - 1
1-12030784-C-T c.1813C>T p.Q605* Nonsense 17/19 - 1
1-12030789-C-A c.1818C>A p.I606= Synonymous 17/19 - 1
1-12030789-C-G c.1818C>G p.I606M Missense 17/19 - 1
1-12030789-C-T c.1818C>T p.I606= Synonymous 17/19 - 3
1-12030790-G-T c.1819G>T p.G607C Missense 17/19 - 1
1-12030791-G-C c.1820G>C p.G607A Missense 17/19 - 1
1-12030793-T-C c.1822T>C p.F608L Missense 17/19 - 1
1-12030796-G-C c.1825G>C p.E609Q Missense 17/19 - 4
1-12030799-C-G c.1828C>G p.R610G Missense 17/19 - 1
1-12030799-C-T c.1828C>T p.R610W Missense 17/19 - 2
1-12030807-G-C c.1836G>C p.W612C Missense 17/19 - 3
1-12030807-G-T c.1836G>T p.W612C Missense 17/19 - 2
1-12030808-CA-AG c.1837_1838delinsAG p.H613S Missense 17/19 - 1
1-12030814-T-C c.1843T>C p.F615L Missense 17/19 - 1
1-12030816-C-A c.1845C>A p.F615L Missense 17/19 - 1
1-12030816-C-G c.1845C>G p.F615L Missense 17/19 - 1
1-12030818-T-C c.1847T>C p.L616P Missense 17/19 - 1
1-12030823-G-T c.1852G>T p.E618* Nonsense 17/19 - 1
1-12030830-T-G c.1859T>G p.I620S Missense 17/19 - 1
1-12030833-C-A c.1862C>A p.A621E Missense 17/19 - 1
1-12030833-C-T c.1862C>T p.A621V Missense 17/19 - 1
1-12030834-G-A c.1863G>A p.A621= Synonymous 17/19 - 2
1-12030834-G-C c.1863G>C p.A621= Synonymous 17/19 - 1
1-12030834-G-T c.1863G>T p.A621= Synonymous 17/19 - 2
1-12030838-A-G c.1867A>G p.M623V Missense 17/19 - 6
1-12030840-G-A c.1869G>A p.M623I Missense 17/19 - 1
1-12030840-G-C c.1869G>C p.M623I Missense 17/19 - 1
1-12030840-G-T c.1869G>T p.M623I Missense 17/19 - 1
1-12030842-C-T c.1871C>T p.T624M Missense 17/19 - 5
1-12030844-G-A c.1873G>A p.E625K Missense 17/19 - 1
1-12030846-G-A c.1875G>A p.E625= Synonymous 17/19 - 3
1-12030854-A-T c.1883A>T p.Y628F Missense 17/19 - 1
1-12030858-C-A c.1887C>A p.P629= Synonymous 17/19 - 2
1-12030858-C-G c.1887C>G p.P629= Synonymous 17/19 - 1
1-12030858-C-T c.1887C>T p.P629= Synonymous 17/19 - 1
1-12030859-G-A c.1888G>A p.G630S Missense 17/19 - 1
1-12030863-A-G c.1892A>G p.Y631C Missense 17/19 - 1
1-12030871-A-G c.1900A>G p.R634G Missense 17/19 - 2
1-12030886-G-A c.1902+13G>A - IntronicSNV - 17/18 1
1-12030995-A-G c.1902+122A>G - IntronicSNV - 17/18 3
1-12031010-T-G c.1902+137T>G - IntronicSNV - 17/18 1
1-12031581-T-C c.1902+708T>C - IntronicSNV - 17/18 1
1-12031866-C-T c.1902+993C>T - IntronicSNV - 17/18 3
1-12032030-A-G c.1903-899A>G - IntronicSNV - 17/18 3
1-12032081-T-C c.1903-848T>C - IntronicSNV - 17/18 1
1-12032081-T-G c.1903-848T>G - IntronicSNV - 17/18 1
1-12032932-C-T c.1906C>T p.Q636* Nonsense 18/19 - 2
1-12032938-G-A c.1912G>A p.D638N Missense 18/19 - 1
1-12032939-A-C c.1913A>C p.D638A Missense 18/19 - 1
1-12032944-G-A c.1918G>A p.A640T Missense 18/19 - 1
1-12032945-C-T c.1919C>T p.A640V Missense 18/19 - 1
1-12032948-T-C c.1922T>C p.F641S Missense 18/19 - 1
1-12032949-T-C c.1923T>C p.F641= Synonymous 18/19 - 1
1-12032951-T-A c.1925T>A p.V642D Missense 18/19 - 1
1-12032952-C-T c.1926C>T p.V642= Synonymous 18/19 - 4
1-12032953-G-A c.1927G>A p.V643I Missense 18/19 - 13
1-12032953-G-C c.1927G>C p.V643L Missense 18/19 - 1
1-12032953-G-T c.1927G>T p.V643F Missense 18/19 - 1
1-12032955-C-A c.1929C>A p.V643= Synonymous 18/19 - 1
1-12032955-C-G c.1929C>G p.V643= Synonymous 18/19 - 1
1-12032955-C-T c.1929C>T p.V643= Synonymous 18/19 - 1
1-12032956-C-T c.1930C>T p.R644C Missense 18/19 - 4
1-12032957-G-A c.1931G>A p.R644H Missense 18/19 - 2
1-12032962-A-G c.1936A>G p.K646E Missense 18/19 - 1
1-12032969-A-C c.1943A>C p.D648A Missense 18/19 - 1
1-12032969-A-T c.1943A>T p.D648V Missense 18/19 - 1
1-12032969-A-AT c.1944dup p.E649* Nonsense 18/19 - 1
1-12032972-A-T c.1946A>T p.E649V Missense 18/19 - 1
1-12032976-G-C c.1950G>C p.Q650H Missense 18/19 - 1
1-12032976-G-T c.1950G>T p.Q650H Missense 18/19 - 1
1-12032986-A-T c.1960A>T p.M654L Missense 18/19 - 1
1-12032992-CA-AG c.1966_1967delinsAG p.H656S Missense 18/19 - 1
1-12032994-C-T c.1968C>T p.H656= Synonymous 18/19 - 1
1-12032995-CA-AG c.1969_1970delinsAG p.H657S Missense 18/19 - 1
1-12032997-T-C c.1971T>C p.H657= Synonymous 18/19 - 2
1-12032999-A-C c.1973A>C p.D658A Missense 18/19 - 1
1-12033013-A-G c.1987A>G p.T663A Missense 18/19 - 1
1-12033016-A-G c.1990A>G p.I664V Missense 18/19 - 1
1-12033019-A-G c.1993A>G p.N665D Missense 18/19 - 1
1-12033023-T-C c.1997T>C p.I666T Missense 18/19 - 1
1-12033024-C-T c.1998C>T p.I666= Synonymous 18/19 - 1
1-12033025-G-A c.1999G>A p.A667T Missense 18/19 - 6
1-12033026-C-A c.2000C>A p.A667D Missense 18/19 - 1
1-12033032-A-G c.2006A>G p.N669S Missense 18/19 - 1
1-12033034-C-T c.2008C>T p.R670* Nonsense 18/19 - 8
1-12033035-G-A c.2009G>A p.R670Q Missense 18/19 - 1
1-12033039-C-T c.2013C>T p.V671= Synonymous 18/19 - 1
1-12033040-G-A c.2014G>A p.G672R Missense 18/19 - 2
1-12033040-G-C c.2014G>C p.G672R Missense 18/19 - 2
1-12033046-G-A c.2020G>A p.D674N Missense 18/19 - 1
1-12033046-G-T c.2020G>T p.D674Y Missense 18/19 - 1
1-12033051-C-T c.2025C>T p.Y675= Synonymous 18/19 - 1
1-12033052-G-A c.2026G>A p.E676K Missense 18/19 - 1
1-12033052-G-C c.2026G>C p.E676Q Missense 18/19 - 1
1-12033113-A-G c.2028+59A>G - IntronicSNV - 18/18 8
1-12033120-G-C c.2028+66G>C - IntronicSNV - 18/18 10
1-12033430-A-G c.2028+376A>G - IntronicSNV - 18/18 1
1-12033512-A-G c.2028+458A>G - IntronicSNV - 18/18 1
1-12033908-G-A c.2029-802G>A - IntronicSNV - 18/18 1
1-12034711-G-A c.2030G>A p.G677D Missense 19/19 - 1
1-12034713-G-A c.2032G>A p.G678R Missense 19/19 - 9
1-12034713-G-C c.2032G>C p.G678R Missense 19/19 - 3
1-12034719-TGT-GAG c.2038_2040delinsGAG p.C680E Missense 19/19 - 1
1-12034722-C-G c.2041C>G p.R681G Missense 19/19 - 1
1-12034722-C-T c.2041C>T p.R681W Missense 19/19 - 3
1-12034723-G-A c.2042G>A p.R681Q Missense 19/19 - 1
1-12034728-C-T c.2047C>T p.L683= Synonymous 19/19 - 1
1-12034729-T-C c.2048T>C p.L683P Missense 19/19 - 1
1-12034731-CGC-TGG c.2050_2052delinsTGG p.R684W Missense 19/19 - 1
1-12034732-G-T c.2051G>T p.R684L Missense 19/19 - 1
1-12034737-AAC-CAA c.2056_2058delinsCAA p.N686Q Missense 19/19 - 1
1-12034737-A-T c.2056A>T p.N686Y Missense 19/19 - 1
1-12034738-A-G c.2057A>G p.N686S Missense 19/19 - 1
1-12034746-A-G c.2065A>G p.I689V Missense 19/19 - 1
1-12034749-C-T c.2068C>T p.R690* Nonsense 19/19 - 1
1-12034750-GA-AT c.2069_2070delinsAT p.R690H Missense 19/19 - 1
1-12034752-G-A c.2071G>A p.A691T Missense 19/19 - 2
1-12034752-G-T c.2071G>T p.A691S Missense 19/19 - 1
1-12034756-C-T c.2075C>T p.P692L Missense 19/19 - 1
1-12034759-G-T c.2078G>T p.R693M Missense 19/19 - 1
1-12034760-G-A c.2079G>A p.R693= Synonymous 19/19 - 1
1-12034763-G-A c.2082G>A p.K694= Synonymous 19/19 - 1
1-12034770-A-G c.2089A>G p.T697A Missense 19/19 - 1
1-12034775-C-A c.2094C>A p.L698= Synonymous 19/19 - 1
1-12034775-C-G c.2094C>G p.L698= Synonymous 19/19 - 1
1-12034775-C-T c.2094C>T p.L698= Synonymous 19/19 - 1
1-12034779-CA-AG c.2098_2099delinsAG p.H700S Missense 19/19 - 1
1-12034782-C-T c.2101C>T p.P701S Missense 19/19 - 1
1-12034783-C-A c.2102C>A p.P701H Missense 19/19 - 1
1-12034788-C-G c.2107C>G p.R703G Missense 19/19 - 2
1-12034788-C-T c.2107C>T p.R703* Nonsense 19/19 - 2
1-12034789-G-A c.2108G>A p.R703Q Missense 19/19 - 2
1-12034795-C-T c.2114C>T p.T705M Missense 19/19 - 4
1-12034796-G-A c.2115G>A p.T705= Synonymous 19/19 - 2
1-12034796-G-C c.2115G>C p.T705= Synonymous 19/19 - 1
1-12034796-G-T c.2115G>T p.T705= Synonymous 19/19 - 1
1-12034797-CA-AG c.2116_2117delinsAG p.H706S Missense 19/19 - 1
1-12034798-A-G c.2117A>G p.H706R Missense 19/19 - 3
1-12034802-C-T c.2121C>T p.Y707= Synonymous 19/19 - 1
1-12034803-CA-AG c.2122_2123delinsAG p.H708S Missense 19/19 - 1
1-12034804-A-T c.2123A>T p.H708L Missense 19/19 - 1
1-12034805-T-C c.2124T>C p.H708= Synonymous 19/19 - 5
1-12034814-C-G c.2133C>G p.L711= Synonymous 19/19 - 2
1-12034818-AC-TG c.2137_2138delinsTG p.T713C Missense 19/19 - 1
1-12034819-C-G c.2138C>G p.T713S Missense 19/19 - 1
1-12034824-AG-GC c.2143_2144delinsGC p.R715A Missense 19/19 - 1
1-12034827-G-A c.2146G>A p.G716S Missense 19/19 - 1
1-12034828-G-A c.2147G>A p.G716D Missense 19/19 - 1
1-12034833-CG-GC c.2152_2153delinsGC p.R718A Missense 19/19 - 1
1-12034834-G-A c.2153G>A p.R718H Missense 19/19 - 4
1-12034841-C-A c.2160C>A p.I720= Synonymous 19/19 - 1
1-12034841-C-T c.2160C>T p.I720= Synonymous 19/19 - 4
1-12034842-G-A c.2161G>A p.A721T Missense 19/19 - 1
1-12034843-C-T c.2162C>T p.A721V Missense 19/19 - 2
1-12034845-G-A c.2164G>A p.V722I Missense 19/19 - 1
1-12034849-C-G c.2168C>G p.S723C Missense 19/19 - 1
1-12034849-CCTT-C c.2170_2172del p.F724del InFrameDeletion 19/19 - 1
1-12034853-C-T c.2172C>T p.F724= Synonymous 19/19 - 5
1-12034854-G-C c.2173G>C p.V725L Missense 19/19 - 1
1-12034858-A-C c.2177A>C p.D726A Missense 19/19 - 1
1-12034860-C-G c.2179C>G p.P727A Missense 19/19 - 1
1-12034861-C-T c.2180C>T p.P727L Missense 19/19 - 1
1-12034862-C-T c.2181C>T p.P727= Synonymous 19/19 - 5
1-12035479-G-T c.*614G>T - 3-UTRSNV 19/19 - 1