KIAA1614

KIAA1614 KIAA1614

Annotation transcript: NM_020950.2

1206 unique variant annotations were identified in 420 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-180882380-A-C c.1A>C p.M1? Missense 1/9 - 2
1-180882380-A-T c.1A>T p.M1? Missense 1/9 - 2
1-180882384-A-T c.5A>T p.E2V Missense 1/9 - 1
1-180882389-A-G c.10A>G p.T4A Missense 1/9 - 1
1-180882392-G-A c.13G>A p.E5K Missense 1/9 - 1
1-180882395-G-A c.16G>A p.A6T Missense 1/9 - 1
1-180882411-C-G c.32C>G p.P11R Missense 1/9 - 1
1-180882411-C-T c.32C>T p.P11L Missense 1/9 - 1
1-180882413-G-A c.34G>A p.A12T Missense 1/9 - 1
1-180882413-GC-CA c.34_35delinsCA p.A12Q Missense 1/9 - 2
1-180882413-G-T c.34G>T p.A12S Missense 1/9 - 1
1-180882414-C-T c.35C>T p.A12V Missense 1/9 - 1
1-180882482-C-G c.50+53C>G - IntronicSNV - 1/8 1
1-180885292-G-A c.53G>A p.G18E Missense 2/9 - 1
1-180885295-C-T c.56C>T p.P19L Missense 2/9 - 1
1-180885296-C-T c.57C>T p.P19= Synonymous 2/9 - 1
1-180885298-A-C c.59A>C p.K20T Missense 2/9 - 1
1-180885304-G-T c.65G>T p.G22V Missense 2/9 - 1
1-180885313-C-G c.74C>G p.T25R Missense 2/9 - 2
1-180885314-A-G c.75A>G p.T25= Synonymous 2/9 - 1
1-180885315-GC-CA c.76_77delinsCA p.A26H Missense 2/9 - 1
1-180885315-GC-TA c.76_77delinsTA p.A26Y Missense 2/9 - 1
1-180885316-C-T c.77C>T p.A26V Missense 2/9 - 1
1-180885318-A-T c.79A>T p.S27C Missense 2/9 - 1
1-180885324-G-A c.85G>A p.V29M Missense 2/9 - 6
1-180885328-A-C c.89A>C p.E30A Missense 2/9 - 1
1-180885329-G-C c.90G>C p.E30D Missense 2/9 - 1
1-180885329-G-T c.90G>T p.E30D Missense 2/9 - 1
1-180885334-C-T c.95C>T p.T32I Missense 2/9 - 1
1-180885340-GCT-G c.101_102del p.A34Gfs*7 Frameshift 2/9 - 1
1-180885345-G-A c.106G>A p.E36K Missense 2/9 - 2
1-180885352-G-A c.113G>A p.S38N Missense 2/9 - 1
1-180885357-C-A c.118C>A p.P40T Missense 2/9 - 1
1-180885362-G-C c.123G>C p.E41D Missense 2/9 - 1
1-180885362-G-T c.123G>T p.E41D Missense 2/9 - 1
1-180885366-C-G c.127C>G p.Q43E Missense 2/9 - 7
1-180885376-A-G c.137A>G p.N46S Missense 2/9 - 1
1-180885377-C-T c.138C>T p.N46= Synonymous 2/9 - 4
1-180885381-C-G c.142C>G p.H48D Missense 2/9 - 1
1-180885383-C-T c.144C>T p.H48= Synonymous 2/9 - 1
1-180885387-C-A c.148C>A p.P50T Missense 2/9 - 1
1-180885382-AC-A c.149del p.P50Qfs*15 Frameshift 2/9 - 3
1-180885388-C-A c.149C>A p.P50Q Missense 2/9 - 2
1-180885391-G-A c.152G>A p.R51K Missense 2/9 - 2
1-180885391-G-T c.152G>T p.R51I Missense 2/9 - 1
1-180885393-C-A c.154C>A p.P52T Missense 2/9 - 1
1-180885397-G-A c.158G>A p.W53* Nonsense 2/9 - 1
1-180885398-G-C c.159G>C p.W53C Missense 2/9 - 1
1-180885398-G-T c.159G>T p.W53C Missense 2/9 - 1
1-180885399-C-T c.160C>T p.P54S Missense 2/9 - 1
1-180885400-C-A c.161C>A p.P54H Missense 2/9 - 1
1-180885403-G-A c.164G>A p.C55Y Missense 2/9 - 1
1-180885406-C-A c.167C>A p.P56H Missense 2/9 - 2
1-180885410-G-A c.171G>A p.Q57= Synonymous 2/9 - 1
1-180885424-C-T c.185C>T p.S62F Missense 2/9 - 1
1-180885426-A-G c.187A>G p.S63G Missense 2/9 - 1
1-180885430-T-C c.191T>C p.L64P Missense 2/9 - 35
1-180885429-C-T c.190C>T p.L64= Synonymous 2/9 - 3
1-180885431-G-A c.192G>A p.L64= Synonymous 2/9 - 2
1-180885431-G-C c.192G>C p.L64= Synonymous 2/9 - 2
1-180885431-G-T c.192G>T p.L64= Synonymous 2/9 - 2
1-180885434-G-A c.195G>A p.M65I Missense 2/9 - 1
1-180885435-G-A c.196G>A p.A66T Missense 2/9 - 1
1-180885435-GCC-TAA c.196_198delinsTAA p.A66* Nonsense 2/9 - 1
1-180885436-C-T c.197C>T p.A66V Missense 2/9 - 1
1-180885437-C-A c.198C>A p.A66= Synonymous 2/9 - 1
1-180885437-C-G c.198C>G p.A66= Synonymous 2/9 - 1
1-180885437-C-T c.198C>T p.A66= Synonymous 2/9 - 1
1-180885439-C-A c.200C>A p.P67H Missense 2/9 - 3
1-180885435-G-GC c.202dup p.Q68Pfs*82 Frameshift 2/9 - 1
1-180885447-TCCCAGGGTATGG-T c.208_219del p.P70_W73del InFrameDeletion 2/9 - 1
1-180885448-C-T c.209C>T p.P70L Missense 2/9 - 3
1-180885453-G-A c.214G>A p.V72I Missense 2/9 - 4
1-180885464-A-C c.225A>C p.V75= Synonymous 2/9 - 3
1-180885464-A-G c.225A>G p.V75= Synonymous 2/9 - 3
1-180885464-A-T c.225A>T p.V75= Synonymous 2/9 - 3
1-180885465-C-T c.226C>T p.Q76* Nonsense 2/9 - 3
1-180885471-C-T c.232C>T p.Q78* Nonsense 2/9 - 1
1-180885474-G-A c.235G>A p.G79S Missense 2/9 - 2
1-180885475-G-A c.236G>A p.G79D Missense 2/9 - 1
1-180885475-G-T c.236G>T p.G79V Missense 2/9 - 1
1-180885477-C-T c.238C>T p.P80S Missense 2/9 - 1
1-180885478-C-T c.239C>T p.P80L Missense 2/9 - 1
1-180885483-G-C c.244G>C p.V82L Missense 2/9 - 1
1-180885486-C-G c.247C>G p.L83V Missense 2/9 - 2
1-180885487-T-C c.248T>C p.L83P Missense 2/9 - 1
1-180885490-A-C c.251A>C p.E84A Missense 2/9 - 1
1-180885493-C-T c.254C>T p.S85F Missense 2/9 - 7
1-180885497-G-A c.258G>A p.K86= Synonymous 2/9 - 1
1-180885498-G-A c.259G>A p.V87M Missense 2/9 - 1
1-180885499-T-G c.260T>G p.V87G Missense 2/9 - 1
1-180885500-G-C c.261G>C p.V87= Synonymous 2/9 - 1
1-180885504-GC-TG c.265_266delinsTG p.A89C Missense 2/9 - 2
1-180885505-C-T c.266C>T p.A89V Missense 2/9 - 2
1-180885512-G-A c.273G>A p.K91= Synonymous 2/9 - 2
1-180885513-GAGA-G c.278_280del p.K93del InFrameDeletion 2/9 - 1
1-180885521-G-A c.282G>A p.M94I Missense 2/9 - 1
1-180885521-G-C c.282G>C p.M94I Missense 2/9 - 1
1-180885521-G-T c.282G>T p.M94I Missense 2/9 - 1
1-180885525-GTG-ATC c.286_288delinsATC p.V96I Missense 2/9 - 1
1-180885526-T-A c.287T>A p.V96E Missense 2/9 - 1
1-180885527-G-T c.288G>T p.V96= Synonymous 2/9 - 2
1-180885534-C-T c.295C>T p.Q99* Nonsense 2/9 - 1
1-180885537-G-T c.298G>T p.G100* Nonsense 2/9 - 1
1-180885547-C-T c.308C>T p.P103L Missense 2/9 - 4
1-180885553-C-G c.314C>G p.S105C Missense 2/9 - 1
1-180885553-C-T c.314C>T p.S105F Missense 2/9 - 1
1-180885559-C-T c.320C>T p.S107F Missense 2/9 - 2
1-180885565-A-T c.326A>T p.E109V Missense 2/9 - 1
1-180885573-T-G c.334T>G p.S112A Missense 2/9 - 2
1-180885575-C-A c.336C>A p.S112= Synonymous 2/9 - 1
1-180885575-C-G c.336C>G p.S112= Synonymous 2/9 - 1
1-180885575-C-T c.336C>T p.S112= Synonymous 2/9 - 3
1-180885573-T-TC c.339dup p.K114Qfs*36 Frameshift 2/9 - 1
1-180885578-C-A c.339C>A p.P113= Synonymous 2/9 - 1
1-180885578-C-G c.339C>G p.P113= Synonymous 2/9 - 1
1-180885578-C-T c.339C>T p.P113= Synonymous 2/9 - 1
1-180885579-A-G c.340A>G p.K114E Missense 2/9 - 2
1-180885588-C-T c.349C>T p.Q117* Nonsense 2/9 - 1
1-180885590-A-G c.351A>G p.Q117= Synonymous 2/9 - 1
1-180885595-G-A c.356G>A p.R119K Missense 2/9 - 1
1-180885597-C-T c.358C>T p.R120* Nonsense 2/9 - 2
1-180885601-G-C c.362G>C p.G121A Missense 2/9 - 1
1-180885602-C-T c.363C>T p.G121= Synonymous 2/9 - 1
1-180885605-G-A c.366G>A p.K122= Synonymous 2/9 - 1
1-180885611-G-T c.372G>T p.G124= Synonymous 2/9 - 1
1-180885613-G-A c.374G>A p.R125K Missense 2/9 - 2
1-180885617-C-T c.378C>T p.A126= Synonymous 2/9 - 2
1-180885620-G-A c.381G>A p.G127= Synonymous 2/9 - 1
1-180885625-C-T c.386C>T p.P129L Missense 2/9 - 2
1-180885633-G-C c.394G>C p.G132R Missense 2/9 - 1
1-180885636-TC-CT c.397_398delinsCT p.S133L Missense 2/9 - 1
1-180885637-C-A c.398C>A p.S133Y Missense 2/9 - 3
1-180885641-C-T c.402C>T p.F134= Synonymous 2/9 - 1
1-180885642-C-T c.403C>T p.L135= Synonymous 2/9 - 1
1-180885644-G-A c.405G>A p.L135= Synonymous 2/9 - 1
1-180885644-G-C c.405G>C p.L135= Synonymous 2/9 - 1
1-180885644-G-T c.405G>T p.L135= Synonymous 2/9 - 1
1-180885650-T-A c.411T>A p.G137= Synonymous 2/9 - 1
1-180885651-G-A c.412G>A p.A138T Missense 2/9 - 1
1-180885655-T-C c.416T>C p.V139A Missense 2/9 - 1
1-180885655-TG-T c.418del p.V140Wfs*110 Frameshift 2/9 - 1
1-180885657-G-A c.418G>A p.V140M Missense 2/9 - 1
1-180885658-T-C c.419T>C p.V140A Missense 2/9 - 1
1-180885664-C-T c.425C>T p.P142L Missense 2/9 - 1
1-180885666-C-G c.427C>G p.R143G Missense 2/9 - 1
1-180885666-C-T c.427C>T p.R143C Missense 2/9 - 2
1-180885668-T-A c.429T>A p.R143= Synonymous 2/9 - 1
1-180885670-C-T c.431C>T p.T144I Missense 2/9 - 1
1-180885673-A-C c.434A>C p.Q145P Missense 2/9 - 2
1-180885679-T-G c.440T>G p.L147R Missense 2/9 - 1
1-180885680-G-T c.441G>T p.L147= Synonymous 2/9 - 1
1-180885681-C-T c.442C>T p.P148S Missense 2/9 - 1
1-180885693-C-T c.454C>T p.L152= Synonymous 2/9 - 1
1-180885695-G-A c.456G>A p.L152= Synonymous 2/9 - 1
1-180885695-G-C c.456G>C p.L152= Synonymous 2/9 - 1
1-180885695-G-T c.456G>T p.L152= Synonymous 2/9 - 1
1-180885698-C-A c.459C>A p.D153E Missense 2/9 - 1
1-180885698-C-G c.459C>G p.D153E Missense 2/9 - 1
1-180885699-G-A c.460G>A p.G154S Missense 2/9 - 2
1-180885710-T-C c.471T>C p.N157= Synonymous 2/9 - 1
1-180885711-G-A c.472G>A p.E158K Missense 2/9 - 2
1-180885713-G-A c.474G>A p.E158= Synonymous 2/9 - 1
1-180885722-C-A c.483C>A p.P161= Synonymous 2/9 - 2
1-180885722-C-G c.483C>G p.P161= Synonymous 2/9 - 2
1-180885722-C-T c.483C>T p.P161= Synonymous 2/9 - 2
1-180885723-G-A c.484G>A p.A162T Missense 2/9 - 2
1-180885723-G-T c.484G>T p.A162S Missense 2/9 - 1
1-180885726-A-T c.487A>T p.R163W Missense 2/9 - 1
1-180885728-G-T c.489G>T p.R163S Missense 2/9 - 1
1-180885732-G-A c.493G>A p.G165R Missense 2/9 - 2
1-180885732-G-C c.493G>C p.G165R Missense 2/9 - 1
1-180885735-G-T c.496G>T p.G166C Missense 2/9 - 1
1-180885736-GC-AG c.497_498delinsAG p.G166E Missense 2/9 - 1
1-180885739-C-T c.500C>T p.P167L Missense 2/9 - 1
1-180885741-AGG-TGT c.502_504delinsTGT p.R168C Missense 2/9 - 2
1-180885741-A-T c.502A>T p.R168W Missense 2/9 - 1
1-180885747-C-T c.508C>T p.P170S Missense 2/9 - 2
1-180885750-A-G c.511A>G p.R171G Missense 2/9 - 1
1-180885750-AGG-TGT c.511_513delinsTGT p.R171C Missense 2/9 - 1
1-180885750-A-T c.511A>T p.R171W Missense 2/9 - 1
1-180885754-C-T c.515C>T p.P172L Missense 2/9 - 1
1-180885755-G-A c.516G>A p.P172= Synonymous 2/9 - 1
1-180885755-G-C c.516G>C p.P172= Synonymous 2/9 - 1
1-180885755-G-T c.516G>T p.P172= Synonymous 2/9 - 1
1-180885756-C-T c.517C>T p.P173S Missense 2/9 - 1
1-180885764-T-A c.525T>A p.P175= Synonymous 2/9 - 1
1-180885764-T-C c.525T>C p.P175= Synonymous 2/9 - 1
1-180885764-T-G c.525T>G p.P175= Synonymous 2/9 - 1
1-180885768-C-T c.529C>T p.R177C Missense 2/9 - 1
1-180885771-G-A c.532G>A p.E178K Missense 2/9 - 1
1-180885773-G-T c.534G>T p.E178D Missense 2/9 - 1
1-180885778-G-GC c.540dup p.N181Qfs*16 Frameshift 2/9 - 1
1-180885781-A-T c.542A>T p.N181I Missense 2/9 - 1
1-180885782-C-G c.543C>G p.N181K Missense 2/9 - 1
1-180885789-A-G c.550A>G p.S184G Missense 2/9 - 1
1-180885789-AG-TT c.550_551delinsTT p.S184F Missense 2/9 - 1
1-180885792-C-T c.553C>T p.P185S Missense 2/9 - 2
1-180885793-C-T c.554C>T p.P185L Missense 2/9 - 7
1-180885798-C-A c.559C>A p.P187T Missense 2/9 - 4
1-180885798-C-T c.559C>T p.P187S Missense 2/9 - 1
1-180885800-T-A c.561T>A p.P187= Synonymous 2/9 - 1
1-180885800-T-C c.561T>C p.P187= Synonymous 2/9 - 1
1-180885800-T-G c.561T>G p.P187= Synonymous 2/9 - 1
1-180885804-G-A c.565G>A p.E189K Missense 2/9 - 1
1-180885808-C-T c.569C>T p.A190V Missense 2/9 - 1
1-180885810-G-A c.571G>A p.E191K Missense 2/9 - 2
1-180885819-C-T c.580C>T p.L194F Missense 2/9 - 1
1-180885821-T-A c.582T>A p.L194= Synonymous 2/9 - 2
1-180885821-T-C c.582T>C p.L194= Synonymous 2/9 - 2
1-180885821-T-G c.582T>G p.L194= Synonymous 2/9 - 2
1-180885822-C-T c.583C>T p.P195S Missense 2/9 - 1
1-180885825-G-A c.586G>A p.D196N Missense 2/9 - 2
1-180885825-G-T c.586G>T p.D196Y Missense 2/9 - 2
1-180885826-A-G c.587A>G p.D196G Missense 2/9 - 1
1-180885828-C-T c.589C>T p.H197Y Missense 2/9 - 3
1-180885831-G-A c.592G>A p.D198N Missense 2/9 - 1
1-180885834-AGA-TGG c.595_597delinsTGG p.R199W Missense 2/9 - 1
1-180885838-G-A c.599G>A p.G200D Missense 2/9 - 1
1-180885840-C-T c.601C>T p.P201S Missense 2/9 - 4
1-180885841-C-T c.602C>T p.P201L Missense 2/9 - 2
1-180885842-G-A c.603G>A p.P201= Synonymous 2/9 - 1
1-180885842-G-C c.603G>C p.P201= Synonymous 2/9 - 1
1-180885842-G-T c.603G>T p.P201= Synonymous 2/9 - 1
1-180885844-T-A c.605T>A p.L202Q Missense 2/9 - 1
1-180885845-G-A c.606G>A p.L202= Synonymous 2/9 - 2
1-180885846-C-T c.607C>T p.L203= Synonymous 2/9 - 2
1-180885848-G-A c.609G>A p.L203= Synonymous 2/9 - 2
1-180885848-G-C c.609G>C p.L203= Synonymous 2/9 - 2
1-180885848-G-T c.609G>T p.L203= Synonymous 2/9 - 2
1-180885849-G-T c.610G>T p.G204W Missense 2/9 - 2
1-180885847-TG-T c.612del p.S206Afs*44 Frameshift 2/9 - 1
1-180885852-C-G c.613C>G p.P205A Missense 2/9 - 3
1-180885853-C-A c.614C>A p.P205H Missense 2/9 - 1
1-180885859-C-T c.620C>T p.S207F Missense 2/9 - 4
1-180885862-T-A c.623T>A p.L208* Nonsense 2/9 - 1
1-180885863-G-A c.624G>A p.L208= Synonymous 2/9 - 1
1-180885863-G-C c.624G>C p.L208F Missense 2/9 - 1
1-180885863-G-T c.624G>T p.L208F Missense 2/9 - 1
1-180885874-C-T c.635C>T p.P212L Missense 2/9 - 1
1-180885878-C-G c.639C>G p.I213M Missense 2/9 - 1
1-180885879-C-G c.640C>G p.H214D Missense 2/9 - 1
1-180885879-C-T c.640C>T p.H214Y Missense 2/9 - 4
1-180885881-T-G c.642T>G p.H214Q Missense 2/9 - 1
1-180885884-A-C c.645A>C p.G215= Synonymous 2/9 - 1
1-180885884-A-G c.645A>G p.G215= Synonymous 2/9 - 1
1-180885884-A-T c.645A>T p.G215= Synonymous 2/9 - 1
1-180885888-A-G c.649A>G p.T217A Missense 2/9 - 2
1-180885891-C-G c.652C>G p.P218A Missense 2/9 - 1
1-180885893-C-T c.654C>T p.P218= Synonymous 2/9 - 1
1-180885894-G-A c.655G>A p.G219R Missense 2/9 - 2
1-180885897-C-T c.658C>T p.R220W Missense 2/9 - 1
1-180885898-G-A c.659G>A p.R220Q Missense 2/9 - 2
1-180885901-C-T c.662C>T p.P221L Missense 2/9 - 1
1-180885903-G-T c.664G>T p.G222W Missense 2/9 - 1
1-180885906-G-A c.667G>A p.G223S Missense 2/9 - 1
1-180885906-G-C c.667G>C p.G223R Missense 2/9 - 1
1-180885907-G-A c.668G>A p.G223D Missense 2/9 - 1
1-180885907-G-T c.668G>T p.G223V Missense 2/9 - 1
1-180885910-C-A c.671C>A p.P224H Missense 2/9 - 1
1-180885913-G-C c.674G>C p.G225A Missense 2/9 - 1
1-180885920-T-C c.681T>C p.C227= Synonymous 2/9 - 1
1-180885923-C-CA c.688dup p.I230Nfs*27 Frameshift 2/9 - 1
1-180885932-C-G c.693C>G p.I231M Missense 2/9 - 1
1-180885939-C-T c.700C>T p.P234S Missense 2/9 - 2
1-180885941-C-A c.702C>A p.P234= Synonymous 2/9 - 1
1-180885943-G-A c.704G>A p.S235N Missense 2/9 - 2
1-180885943-GCCCAAGGACAGGAAGGT-G c.707_723del p.P236Lfs*15 Frameshift 2/9 - 1
1-180885948-A-T c.709A>T p.R237W Missense 2/9 - 5
1-180885949-G-A c.710G>A p.R237K Missense 2/9 - 1
1-180885957-AG-CC c.718_719delinsCC p.R240P Missense 2/9 - 1
1-180885958-G-A c.719G>A p.R240K Missense 2/9 - 1
1-180885966-C-T c.727C>T p.P243S Missense 2/9 - 5
1-180885975-G-T c.736G>T p.D246Y Missense 2/9 - 2
1-180885978-G-C c.739G>C p.G247R Missense 2/9 - 1
1-180885979-G-C c.740G>C p.G247A Missense 2/9 - 1
1-180885980-C-A c.741C>A p.G247= Synonymous 2/9 - 3
1-180885980-C-G c.741C>G p.G247= Synonymous 2/9 - 3
1-180885980-C-T c.741C>T p.G247= Synonymous 2/9 - 5
1-180885981-G-A c.742G>A p.V248M Missense 2/9 - 1
1-180885990-G-T c.751G>T p.E251* Nonsense 2/9 - 1
1-180885999-C-G c.760C>G p.L254V Missense 2/9 - 1
1-180886002-G-C c.763G>C p.D255H Missense 2/9 - 1
1-180886004-T-A c.765T>A p.D255E Missense 2/9 - 1
1-180886004-T-G c.765T>G p.D255E Missense 2/9 - 1
1-180886006-G-T c.767G>T p.S256I Missense 2/9 - 1
1-180886014-C-A c.775C>A p.L259M Missense 2/9 - 5
1-180886022-C-A c.783C>A p.S261= Synonymous 2/9 - 1
1-180886022-C-G c.783C>G p.S261= Synonymous 2/9 - 1
1-180886022-C-T c.783C>T p.S261= Synonymous 2/9 - 2
1-180886023-G-A c.784G>A p.E262K Missense 2/9 - 3
1-180886028-G-A c.789G>A p.E263= Synonymous 2/9 - 1
1-180886031-C-A c.792C>A p.V264= Synonymous 2/9 - 3
1-180886031-C-G c.792C>G p.V264= Synonymous 2/9 - 2
1-180886031-C-T c.792C>T p.V264= Synonymous 2/9 - 2
1-180886038-C-T c.799C>T p.P267S Missense 2/9 - 1
1-180886039-C-A c.800C>A p.P267H Missense 2/9 - 2
1-180886039-C-T c.800C>T p.P267L Missense 2/9 - 9
1-180886045-C-A c.806C>A p.T269K Missense 2/9 - 1
1-180886045-C-T c.806C>T p.T269M Missense 2/9 - 6
1-180886049-C-T c.810C>T p.A270= Synonymous 2/9 - 1
1-180886050-CT-AA c.811_812delinsAA p.L271K Missense 2/9 - 3
1-180886053-C-T c.814C>T p.L272= Synonymous 2/9 - 3
1-180886055-G-A c.816G>A p.L272= Synonymous 2/9 - 3
1-180886055-G-C c.816G>C p.L272= Synonymous 2/9 - 3
1-180886055-G-T c.816G>T p.L272= Synonymous 2/9 - 4
1-180886056-G-T c.817G>T p.G273C Missense 2/9 - 1
1-180886057-G-A c.818G>A p.G273D Missense 2/9 - 4
1-180886062-C-A c.823C>A p.R275S Missense 2/9 - 1
1-180886062-C-T c.823C>T p.R275C Missense 2/9 - 1
1-180886063-G-A c.824G>A p.R275H Missense 2/9 - 4
1-180886065-T-G c.826T>G p.W276G Missense 2/9 - 1
1-180886069-G-C c.830G>C p.R277T Missense 2/9 - 1
1-180886072-C-T c.833C>T p.A278V Missense 2/9 - 1
1-180886074-G-A c.835G>A p.G279R Missense 2/9 - 1
1-180886077-G-C c.838G>C p.D280H Missense 2/9 - 1
1-180886079-C-A c.840C>A p.D280E Missense 2/9 - 1
1-180886080-C-T c.841C>T p.L281= Synonymous 2/9 - 1
1-180886082-G-A c.843G>A p.L281= Synonymous 2/9 - 1
1-180886082-G-C c.843G>C p.L281= Synonymous 2/9 - 1
1-180886082-G-T c.843G>T p.L281= Synonymous 2/9 - 1
1-180886083-G-A c.844G>A p.E282K Missense 2/9 - 2
1-180886086-G-A c.847G>A p.A283T Missense 2/9 - 2
1-180886092-G-C c.853G>C p.G285R Missense 2/9 - 1
1-180886093-G-T c.854G>T p.G285V Missense 2/9 - 2
1-180886094-C-T c.855C>T p.G285= Synonymous 2/9 - 1
1-180886095-G-A c.856G>A p.A286T Missense 2/9 - 1
1-180886097-T-A c.858T>A p.A286= Synonymous 2/9 - 1
1-180886097-T-C c.858T>C p.A286= Synonymous 2/9 - 1
1-180886097-T-G c.858T>G p.A286= Synonymous 2/9 - 1
1-180886098-G-T c.859G>T p.G287W Missense 2/9 - 1
1-180886115-C-T c.876C>T p.S292= Synonymous 2/9 - 3
1-180886118-G-T c.879G>T p.L293= Synonymous 2/9 - 1
1-180886125-C-T c.886C>T p.R296W Missense 2/9 - 3
1-180886126-G-A c.887G>A p.R296Q Missense 2/9 - 2
1-180886126-G-T c.887G>T p.R296L Missense 2/9 - 1
1-180886134-A-G c.895A>G p.R299G Missense 2/9 - 1
1-180886135-G-A c.896G>A p.R299K Missense 2/9 - 1
1-180886136-A-C c.897A>C p.R299S Missense 2/9 - 1
1-180886136-A-T c.897A>T p.R299S Missense 2/9 - 1
1-180886135-GA-G c.899del p.N300Tfs*65 Frameshift 2/9 - 1
1-180886140-C-A c.901C>A p.R301S Missense 2/9 - 7
1-180886140-C-T c.901C>T p.R301C Missense 2/9 - 14
1-180886141-CG-C c.902del p.R301Pfs*64 Frameshift 2/9 - 1
1-180886141-G-A c.902G>A p.R301H Missense 2/9 - 5
1-180886161-C-A c.922C>A p.L308I Missense 2/9 - 1
1-180886163-C-A c.924C>A p.L308= Synonymous 2/9 - 3
1-180886166-C-T c.927C>T p.N309= Synonymous 2/9 - 3
1-180886172-T-A c.933T>A p.S311= Synonymous 2/9 - 1
1-180886172-T-C c.933T>C p.S311= Synonymous 2/9 - 1
1-180886172-T-G c.933T>G p.S311= Synonymous 2/9 - 1
1-180886177-A-T c.938A>T p.Q313L Missense 2/9 - 1
1-180886181-C-T c.942C>T p.S314= Synonymous 2/9 - 1
1-180886185-C-T c.946C>T p.R316C Missense 2/9 - 1
1-180886186-G-A c.947G>A p.R316H Missense 2/9 - 4
1-180886191-GTG-ATC c.952_954delinsATC p.V318I Missense 2/9 - 1
1-180886196-A-C c.957A>C p.G319= Synonymous 2/9 - 1
1-180886196-A-G c.957A>G p.G319= Synonymous 2/9 - 1
1-180886196-A-T c.957A>T p.G319= Synonymous 2/9 - 1
1-180886199-C-G c.960C>G p.T320= Synonymous 2/9 - 1
1-180886199-C-T c.960C>T p.T320= Synonymous 2/9 - 3
1-180886200-C-A c.961C>A p.P321T Missense 2/9 - 1
1-180886210-CT-TG c.971_972delinsTG p.T324M Missense 2/9 - 1
1-180886210-C-CT c.972dup p.P325Sfs*45 Frameshift 2/9 - 1
1-180886212-C-T c.973C>T p.P325S Missense 2/9 - 2
1-180886214-A-C c.975A>C p.P325= Synonymous 2/9 - 1
1-180886214-A-G c.975A>G p.P325= Synonymous 2/9 - 1
1-180886214-A-T c.975A>T p.P325= Synonymous 2/9 - 1
1-180886216-C-T c.977C>T p.S326F Missense 2/9 - 5
1-180886217-C-A c.978C>A p.S326= Synonymous 2/9 - 1
1-180886217-C-G c.978C>G p.S326= Synonymous 2/9 - 1
1-180886217-C-T c.978C>T p.S326= Synonymous 2/9 - 1
1-180886231-C-T c.992C>T p.A331V Missense 2/9 - 1
1-180886231-GC-G c.992del p.A331Dfs*34 Frameshift 2/9 - 1
1-180886234-C-T c.995C>T p.P332L Missense 2/9 - 1
1-180886810-C-G c.998-177C>G - IntronicSNV - 2/8 4
1-180886995-G-A c.1006G>A p.V336M Missense 3/9 - 1
1-180886995-G-C c.1006G>C p.V336L Missense 3/9 - 1
1-180886995-G-T c.1006G>T p.V336L Missense 3/9 - 1
1-180886995-GTG-ATC c.1006_1008delinsATC p.V336I Missense 3/9 - 1
1-180886998-G-C c.1009G>C p.G337R Missense 3/9 - 1
1-180886999-G-A c.1010G>A p.G337E Missense 3/9 - 1
1-180886999-G-T c.1010G>T p.G337V Missense 3/9 - 1
1-180887004-G-C c.1015G>C p.V339L Missense 3/9 - 2
1-180887004-G-T c.1015G>T p.V339L Missense 3/9 - 4
1-180887011-G-A c.1022G>A p.W341* Nonsense 3/9 - 1
1-180887018-G-A c.1029G>A p.S343= Synonymous 3/9 - 1
1-180887019-G-A c.1030G>A p.G344S Missense 3/9 - 1
1-180887033-G-T c.1044G>T p.Q348H Missense 3/9 - 1
1-180887034-G-A c.1045G>A p.D349N Missense 3/9 - 1
1-180887038-C-T c.1049C>T p.S350F Missense 3/9 - 1
1-180887039-C-T c.1050C>T p.S350= Synonymous 3/9 - 1
1-180887040-G-A c.1051G>A p.G351S Missense 3/9 - 1
1-180887042-C-T c.1053C>T p.G351= Synonymous 3/9 - 1
1-180887045-G-C c.1056G>C p.Q352H Missense 3/9 - 1
1-180887045-G-T c.1056G>T p.Q352H Missense 3/9 - 2
1-180887047-A-G c.1058A>G p.N353S Missense 3/9 - 2
1-180887289-G-A c.1061+239G>A - IntronicSNV - 3/8 1
1-180887377-T-C c.1061+327T>C - IntronicSNV - 3/8 1
1-180889857-G-GGC c.1061+2809_1061+2810dup - IntronicInsertion - 3/8 1
1-180889919-G-A c.1061+2869G>A - IntronicSNV - 3/8 1
1-180891493-G-A c.1061+4443G>A - IntronicSNV - 3/8 1
1-180895157-A-T c.1062-2409A>T - IntronicSNV - 3/8 1
1-180896902-A-G c.1062-664A>G - IntronicSNV - 3/8 1
1-180897453-A-G c.1062-113A>G - IntronicSNV - 3/8 1
1-180897521-C-T c.1062-45C>T - IntronicSNV - 3/8 9
1-180897569-C-A c.1065C>A p.T355= Synonymous 4/9 - 1
1-180897569-C-G c.1065C>G p.T355= Synonymous 4/9 - 1
1-180897569-C-T c.1065C>T p.T355= Synonymous 4/9 - 15
1-180897573-G-C c.1069G>C p.G357R Missense 4/9 - 1
1-180897577-C-T c.1073C>T p.P358L Missense 4/9 - 1
1-180897580-A-G c.1076A>G p.N359S Missense 4/9 - 1
1-180897583-C-A c.1079C>A p.P360Q Missense 4/9 - 1
1-180897584-G-A c.1080G>A p.P360= Synonymous 4/9 - 3
1-180897584-G-C c.1080G>C p.P360= Synonymous 4/9 - 1
1-180897584-G-T c.1080G>T p.P360= Synonymous 4/9 - 1
1-180897585-G-A c.1081G>A p.E361K Missense 4/9 - 2
1-180897588-C-T c.1084C>T p.P362S Missense 4/9 - 1
1-180897600-C-A c.1096C>A p.P366T Missense 4/9 - 1
1-180897600-C-T c.1096C>T p.P366S Missense 4/9 - 1
1-180897601-C-T c.1097C>T p.P366L Missense 4/9 - 1
1-180897602-C-T c.1098C>T p.P366= Synonymous 4/9 - 2
1-180897609-G-T c.1105G>T p.E369* Nonsense 4/9 - 1
1-180897610-A-G c.1106A>G p.E369G Missense 4/9 - 2
1-180897611-G-C c.1107G>C p.E369D Missense 4/9 - 2
1-180897611-G-T c.1107G>T p.E369D Missense 4/9 - 2
1-180897633-C-T c.1129C>T p.R377C Missense 4/9 - 1
1-180897634-G-A c.1130G>A p.R377H Missense 4/9 - 9
1-180897634-GT-AA c.1130_1131delinsAA p.R377Q Missense 4/9 - 1
1-180897640-G-A c.1136G>A p.R379H Missense 4/9 - 3
1-180897642-A-G c.1138A>G p.M380V Missense 4/9 - 2
1-180897645-A-C c.1141A>C p.K381Q Missense 4/9 - 1
1-180897649-C-T c.1145C>T p.A382V Missense 4/9 - 1
1-180897651-AG-CT c.1147_1148inv p.R383L Missense 4/9 - 1
1-180897651-AGG-CAT c.1147_1149delinsCAT p.R383H Missense 4/9 - 1
1-180897655-C-T c.1151C>T p.T384I Missense 4/9 - 1
1-180897657-C-T c.1153C>T p.R385W Missense 4/9 - 1
1-180897658-G-A c.1154G>A p.R385Q Missense 4/9 - 3
1-180897663-CT-AG c.1159_1160inv p.L387S Missense 4/9 - 1
1-180897666-C-T c.1162C>T p.R388C Missense 4/9 - 3
1-180897667-G-A c.1163G>A p.R388H Missense 4/9 - 3
1-180897673-G-A c.1169G>A p.S390N Missense 4/9 - 1
1-180897674-C-T c.1170C>T p.S390= Synonymous 4/9 - 2
1-180897675-C-A c.1171C>A p.H391N Missense 4/9 - 3
1-180897676-A-T c.1172A>T p.H391L Missense 4/9 - 4
1-180897683-C-T c.1179C>T p.I393= Synonymous 4/9 - 4
1-180897697-CC-TG c.1193_1194delinsTG p.T398M Missense 4/9 - 1
1-180897698-C-A c.1194C>A p.T398= Synonymous 4/9 - 1
1-180897698-C-G c.1194C>G p.T398= Synonymous 4/9 - 1
1-180897698-C-T c.1194C>T p.T398= Synonymous 4/9 - 1
1-180897702-G-C c.1198G>C p.G400R Missense 4/9 - 1
1-180897703-G-T c.1199G>T p.G400V Missense 4/9 - 1
1-180897709-G-A c.1205G>A p.R402Q Missense 4/9 - 1
1-180897792-ATGC-A c.1205+94_1205+96del - IntronicDeletion - 4/8 2
1-180900168-A-AGG c.1205+2461_1205+2462dup - IntronicInsertion - 4/8 1
1-180904257-C-A c.1212C>A p.G404= Synonymous 5/9 - 1
1-180904257-C-G c.1212C>G p.G404= Synonymous 5/9 - 1
1-180904257-C-T c.1212C>T p.G404= Synonymous 5/9 - 1
1-180904258-C-T c.1213C>T p.H405Y Missense 5/9 - 1
1-180904268-C-T c.1223C>T p.P408L Missense 5/9 - 1
1-180904271-C-G c.1226C>G p.A409G Missense 5/9 - 1
1-180904273-C-T c.1228C>T p.R410W Missense 5/9 - 2
1-180904274-G-T c.1229G>T p.R410L Missense 5/9 - 2
1-180904283-G-C c.1238G>C p.R413T Missense 5/9 - 1
1-180904289-C-T c.1244C>T p.T415I Missense 5/9 - 1
1-180904291-CC-TT c.1246_1247delinsTT p.P416F Missense 5/9 - 1
1-180904294-G-A c.1249G>A p.A417T Missense 5/9 - 1
1-180904298-G-A c.1253G>A p.C418Y Missense 5/9 - 1
1-180904303-G-A c.1258G>A p.D420N Missense 5/9 - 2
1-180904303-G-T c.1258G>T p.D420Y Missense 5/9 - 1
1-180904306-A-T c.1261A>T p.S421C Missense 5/9 - 1
1-180904309-C-T c.1264C>T p.L422F Missense 5/9 - 3
1-180904312-C-T c.1267C>T p.Q423* Nonsense 5/9 - 1
1-180904317-C-T c.1272C>T p.N424= Synonymous 5/9 - 1
1-180904325-C-T c.1280C>T p.T427M Missense 5/9 - 1
1-180904334-C-A c.1289C>A p.S430Y Missense 5/9 - 1
1-180904337-C-T c.1292C>T p.S431F Missense 5/9 - 3
1-180904338-C-T c.1293C>T p.S431= Synonymous 5/9 - 1
1-180904343-G-A c.1298G>A p.G433E Missense 5/9 - 1
1-180904343-G-T c.1298G>T p.G433V Missense 5/9 - 1
1-180904344-A-G c.1299A>G p.G433= Synonymous 5/9 - 1
1-180904348-T-G c.1303T>G p.S435A Missense 5/9 - 1
1-180904349-C-A c.1304C>A p.S435Y Missense 5/9 - 1
1-180904353-C-T c.1308C>T p.S436= Synonymous 5/9 - 1
1-180904356-T-A c.1311T>A p.G437= Synonymous 5/9 - 1
1-180904356-T-C c.1311T>C p.G437= Synonymous 5/9 - 1
1-180904356-T-G c.1311T>G p.G437= Synonymous 5/9 - 1
1-180904362-C-T c.1317C>T p.H439= Synonymous 5/9 - 1
1-180904365-G-T c.1320G>T p.R440S Missense 5/9 - 1
1-180904367-C-T c.1322C>T p.P441L Missense 5/9 - 4
1-180904373-G-A c.1328G>A p.R443Q Missense 5/9 - 1
1-180904378-C-A c.1333C>A p.P445T Missense 5/9 - 1
1-180904383-G-A c.1338G>A p.S446= Synonymous 5/9 - 1
1-180904383-G-C c.1338G>C p.S446= Synonymous 5/9 - 1
1-180904383-G-T c.1338G>T p.S446= Synonymous 5/9 - 1
1-180904386-G-A c.1341G>A p.P447= Synonymous 5/9 - 1
1-180904388-C-T c.1343C>T p.S448L Missense 5/9 - 3
1-180904389-G-A c.1344G>A p.S448= Synonymous 5/9 - 1
1-180904396-C-A c.1351C>A p.R451S Missense 5/9 - 2
1-180904396-C-T c.1351C>T p.R451C Missense 5/9 - 1
1-180904402-G-C c.1357G>C p.E453Q Missense 5/9 - 1
1-180904408-G-A c.1363G>A p.E455K Missense 5/9 - 1
1-180904412-C-T c.1367C>T p.S456F Missense 5/9 - 3
1-180904413-C-T c.1368C>T p.S456= Synonymous 5/9 - 1
1-180904415-C-G c.1370C>G p.A457G Missense 5/9 - 1
1-180904418-G-A c.1373G>A p.R458H Missense 5/9 - 5
1-180904420-G-A c.1375G>A p.E459K Missense 5/9 - 1
1-180904421-A-G c.1376A>G p.E459G Missense 5/9 - 1
1-180904425-C-T c.1380C>T p.A460= Synonymous 5/9 - 1
1-180904426-G-C c.1381G>C p.E461Q Missense 5/9 - 1
1-180904431-C-A c.1386C>A p.F462L Missense 5/9 - 1
1-180904431-C-T c.1386C>T p.F462= Synonymous 5/9 - 2
1-180904432-C-T c.1387C>T p.R463C Missense 5/9 - 4
1-180904433-G-A c.1388G>A p.R463H Missense 5/9 - 3
1-180904437-C-G c.1392C>G p.H464Q Missense 5/9 - 1
1-180904444-C-A c.1399C>A p.R467= Synonymous 5/9 - 1
1-180904444-CGG-TGT c.1399_1401delinsTGT p.R467C Missense 5/9 - 1
1-180904444-C-T c.1399C>T p.R467W Missense 5/9 - 1
1-180904446-G-A c.1401G>A p.R467= Synonymous 5/9 - 1
1-180904446-G-C c.1401G>C p.R467= Synonymous 5/9 - 1
1-180904446-G-T c.1401G>T p.R467= Synonymous 5/9 - 1
1-180904445-G-A c.1400G>A p.R467Q Missense 5/9 - 1
1-180904445-G-T c.1400G>T p.R467L Missense 5/9 - 1
1-180904447-C-T c.1402C>T p.L468= Synonymous 5/9 - 2
1-180904449-G-A c.1404G>A p.L468= Synonymous 5/9 - 1
1-180904449-G-C c.1404G>C p.L468= Synonymous 5/9 - 1
1-180904449-G-T c.1404G>T p.L468= Synonymous 5/9 - 1
1-180904461-G-C c.1416G>C p.Q472H Missense 5/9 - 1
1-180904461-G-T c.1416G>T p.Q472H Missense 5/9 - 1
1-180904462-C-T c.1417C>T p.R473C Missense 5/9 - 4
1-180904469-T-A c.1424T>A p.V475E Missense 5/9 - 2
1-180904474-AGC-TGA c.1429_1431delinsTGA p.S477* Nonsense 5/9 - 1
1-180904480-G-A c.1435G>A p.V479M Missense 5/9 - 1
1-180904491-C-A c.1446C>A p.A482= Synonymous 5/9 - 2
1-180904491-C-G c.1446C>G p.A482= Synonymous 5/9 - 2
1-180904491-C-T c.1446C>T p.A482= Synonymous 5/9 - 2
1-180904493-C-T c.1448C>T p.A483V Missense 5/9 - 1
1-180904494-G-A c.1449G>A p.A483= Synonymous 5/9 - 1
1-180904494-G-C c.1449G>C p.A483= Synonymous 5/9 - 1
1-180904494-G-T c.1449G>T p.A483= Synonymous 5/9 - 1
1-180904495-G-C c.1450G>C p.D484H Missense 5/9 - 1
1-180904506-C-A c.1461C>A p.P487= Synonymous 5/9 - 1
1-180904506-C-G c.1461C>G p.P487= Synonymous 5/9 - 1
1-180904506-C-T c.1461C>T p.P487= Synonymous 5/9 - 1
1-180904507-C-G c.1462C>G p.L488V Missense 5/9 - 1
1-180904507-C-T c.1462C>T p.L488= Synonymous 5/9 - 2
1-180904509-G-A c.1464G>A p.L488= Synonymous 5/9 - 2
1-180904509-G-C c.1464G>C p.L488= Synonymous 5/9 - 2
1-180904509-G-T c.1464G>T p.L488= Synonymous 5/9 - 2
1-180904510-C-A c.1465C>A p.R489S Missense 5/9 - 1
1-180904511-GC-AA c.1466_1467delinsAA p.R489Q Missense 5/9 - 1
1-180904514-C-T c.1469C>T p.S490F Missense 5/9 - 1
1-180904518-G-T c.1473G>T p.K491N Missense 5/9 - 1
1-180904521-C-A c.1476C>A p.P492= Synonymous 5/9 - 1
1-180904521-C-G c.1476C>G p.P492= Synonymous 5/9 - 1
1-180904521-C-T c.1476C>T p.P492= Synonymous 5/9 - 1
1-180904527-C-A c.1482C>A p.L494= Synonymous 5/9 - 2
1-180904527-C-G c.1482C>G p.L494= Synonymous 5/9 - 2
1-180904527-C-T c.1482C>T p.L494= Synonymous 5/9 - 2
1-180904528-G-A c.1483G>A p.A495T Missense 5/9 - 1
1-180904530-C-A c.1485C>A p.A495= Synonymous 5/9 - 1
1-180904530-C-G c.1485C>G p.A495= Synonymous 5/9 - 1
1-180904530-C-T c.1485C>T p.A495= Synonymous 5/9 - 1
1-180904531-G-A c.1486G>A p.D496N Missense 5/9 - 1
1-180904532-A-C c.1487A>C p.D496A Missense 5/9 - 1
1-180904538-T-C c.1493T>C p.I498T Missense 5/9 - 1
1-180904543-G-A c.1498G>A p.G500R Missense 5/9 - 1
1-180904543-G-C c.1498G>C p.G500R Missense 5/9 - 1
1-180904549-C-A c.1504C>A p.P502T Missense 5/9 - 1
1-180904553-G-A c.1508G>A p.R503Q Missense 5/9 - 2
1-180904557-C-T c.1512C>T p.L504= Synonymous 5/9 - 1
1-180904558-C-T c.1513C>T p.R505W Missense 5/9 - 1
1-180904561-G-A c.1516G>A p.D506N Missense 5/9 - 1
1-180904585-AG-CA c.1540_1541delinsCA p.R514Q Missense 5/9 - 1
1-180904594-G-A c.1549G>A p.G517S Missense 5/9 - 1
1-180904606-C-T c.1561C>T p.R521C Missense 5/9 - 1
1-180904607-G-A c.1562G>A p.R521H Missense 5/9 - 2
1-180904610-G-A c.1565G>A p.R522K Missense 5/9 - 1
1-180904617-C-A c.1572C>A p.H524Q Missense 5/9 - 1
1-180904617-C-G c.1572C>G p.H524Q Missense 5/9 - 1
1-180904622-C-T c.1577C>T p.A526V Missense 5/9 - 1
1-180904623-A-C c.1578A>C p.A526= Synonymous 5/9 - 1
1-180904625-C-T c.1580C>T p.P527L Missense 5/9 - 2
1-180904629-G-A c.1584G>A p.P528= Synonymous 5/9 - 1
1-180904633-C-G c.1588C>G p.P530A Missense 5/9 - 1
1-180904634-CG-AT c.1589_1590delinsAT p.P530H Missense 5/9 - 1
1-180904643-A-G c.1598A>G p.E533G Missense 5/9 - 1
1-180904658-C-T c.1613C>T p.A538V Missense 5/9 - 1
1-180904664-G-C c.1619G>C p.G540A Missense 5/9 - 1
1-180904664-G-T c.1619G>T p.G540V Missense 5/9 - 1
1-180904668-C-T c.1623C>T p.S541= Synonymous 5/9 - 1
1-180904669-TG-AC c.1624_1625delinsAC p.C542T Missense 5/9 - 1
1-180904672-A-T c.1627A>T p.I543F Missense 5/9 - 1
1-180904674-C-G c.1629C>G p.I543M Missense 5/9 - 2
1-180904675-G-A c.1630G>A p.D544N Missense 5/9 - 2
1-180904677-C-T c.1632C>T p.D544= Synonymous 5/9 - 1
1-180904678-G-A c.1633G>A p.D545N Missense 5/9 - 2
1-180904678-G-C c.1633G>C p.D545H Missense 5/9 - 1
1-180904684-C-T c.1639C>T p.R547C Missense 5/9 - 1
1-180904687-C-T c.1642C>T p.P548S Missense 5/9 - 1
1-180904688-C-A c.1643C>A p.P548H Missense 5/9 - 2
1-180904690-G-A c.1645G>A p.A549T Missense 5/9 - 1
1-180904697-G-A c.1652G>A p.G551E Missense 5/9 - 4
1-180904701-G-A c.1656G>A p.K552= Synonymous 5/9 - 2
1-180904706-C-T c.1661C>T p.P554L Missense 5/9 - 1
1-180904707-C-A c.1662C>A p.P554= Synonymous 5/9 - 2
1-180904707-C-G c.1662C>G p.P554= Synonymous 5/9 - 2
1-180904707-C-T c.1662C>T p.P554= Synonymous 5/9 - 2
1-180904709-C-T c.1664C>T p.P555L Missense 5/9 - 1
1-180904704-G-GC c.1665dup p.V556Rfs*64 Frameshift 5/9 - 1
1-180904711-G-A c.1666G>A p.V556I Missense 5/9 - 1
1-180904716-C-T c.1671C>T p.P557= Synonymous 5/9 - 2
1-180904718-G-A c.1673G>A p.R558K Missense 5/9 - 1
1-180904718-G-T c.1673G>T p.R558M Missense 5/9 - 1
1-180904717-A-C c.1672A>C p.R558= Synonymous 5/9 - 1
1-180904719-G-A c.1674G>A p.R558= Synonymous 5/9 - 1
1-180904727-A-C c.1682A>C p.Q561P Missense 5/9 - 1
1-180904728-G-A c.1683G>A p.Q561= Synonymous 5/9 - 1
1-180904732-C-T c.1687C>T p.L563F Missense 5/9 - 1
1-180904736-A-C c.1691A>C p.Q564P Missense 5/9 - 1
1-180904736-A-T c.1691A>T p.Q564L Missense 5/9 - 2
1-180904750-A-C c.1705A>C p.M569L Missense 5/9 - 1
1-180904758-G-C c.1713G>C p.R571S Missense 5/9 - 2
1-180904758-G-T c.1713G>T p.R571S Missense 5/9 - 3
1-180904759-G-C c.1714G>C p.V572L Missense 5/9 - 1
1-180904759-G-T c.1714G>T p.V572L Missense 5/9 - 1
1-180904769-G-A c.1724G>A p.G575D Missense 5/9 - 1
1-180904771-C-T c.1726C>T p.L576= Synonymous 5/9 - 3
1-180904776-C-T c.1731C>T p.S577= Synonymous 5/9 - 1
1-180904777-T-G c.1732T>G p.S578A Missense 5/9 - 1
1-180904779-C-A c.1734C>A p.S578= Synonymous 5/9 - 1
1-180904779-C-G c.1734C>G p.S578= Synonymous 5/9 - 1
1-180904779-C-T c.1734C>T p.S578= Synonymous 5/9 - 1
1-180904786-CGG-TGT c.1741_1743delinsTGT p.R581C Missense 5/9 - 1
1-180904786-CG-TA c.1741_1742delinsTA p.R581* Nonsense 5/9 - 1
1-180904787-G-A c.1742G>A p.R581Q Missense 5/9 - 1
1-180904795-C-G c.1750C>G p.P584A Missense 5/9 - 1
1-180904801-G-A c.1756G>A p.E586K Missense 5/9 - 3
1-180904806-C-A c.1761C>A p.P587= Synonymous 5/9 - 1
1-180904806-C-G c.1761C>G p.P587= Synonymous 5/9 - 1
1-180904806-C-T c.1761C>T p.P587= Synonymous 5/9 - 1
1-180904808-G-T c.1763G>T p.R588L Missense 5/9 - 1
1-180904810-C-T c.1765C>T p.L589F Missense 5/9 - 1
1-180904811-T-A c.1766T>A p.L589H Missense 5/9 - 1
1-180904816-A-G c.1771A>G p.M591V Missense 5/9 - 4
1-180904820-A-C c.1775A>C p.E592A Missense 5/9 - 3
1-180904828-C-T c.1783C>T p.R595W Missense 5/9 - 1
1-180904829-G-A c.1784G>A p.R595Q Missense 5/9 - 2
1-180904833-A-G c.1788A>G p.E596= Synonymous 5/9 - 1
1-180904835-C-T c.1790C>T p.T597I Missense 5/9 - 3
1-180904849-A-G c.1804A>G p.T602A Missense 5/9 - 1
1-180904852-G-C c.1807G>C p.V603L Missense 5/9 - 2
1-180904852-G-T c.1807G>T p.V603L Missense 5/9 - 3
1-180904861-G-A c.1816G>A p.A606T Missense 5/9 - 2
1-180904862-CG-AC c.1817_1818delinsAC p.A606D Missense 5/9 - 1
1-180904862-C-T c.1817C>T p.A606V Missense 5/9 - 1
1-180904863-G-A c.1818G>A p.A606= Synonymous 5/9 - 2
1-180904863-G-C c.1818G>C p.A606= Synonymous 5/9 - 1
1-180904863-G-T c.1818G>T p.A606= Synonymous 5/9 - 1
1-180904865-A-G c.1820A>G p.E607G Missense 5/9 - 1
1-180904869-G-A c.1824G>A p.V608= Synonymous 5/9 - 1
1-180904874-C-G c.1829C>G p.S610C Missense 5/9 - 3
1-180904878-C-A c.1833C>A p.A611= Synonymous 5/9 - 1
1-180904878-C-G c.1833C>G p.A611= Synonymous 5/9 - 1
1-180904878-C-T c.1833C>T p.A611= Synonymous 5/9 - 2
1-180904879-C-A c.1834C>A p.L612M Missense 5/9 - 3
1-180904879-C-T c.1834C>T p.L612= Synonymous 5/9 - 1
1-180904891-G-A c.1846G>A p.D616N Missense 5/9 - 3
1-180904906-T-C c.1861T>C p.C621R Missense 5/9 - 1
1-180904909-AG-CA c.1864_1865delinsCA p.R622Q Missense 5/9 - 1
1-180904915-G-A c.1870G>A p.D624N Missense 5/9 - 2
1-180904921-G-A c.1876G>A p.E626K Missense 5/9 - 1
1-180904924-G-A c.1879G>A p.E627K Missense 5/9 - 1
1-180904928-C-A c.1883C>A p.A628E Missense 5/9 - 1
1-180904928-C-T c.1883C>T p.A628V Missense 5/9 - 1
1-180904929-G-A c.1884G>A p.A628= Synonymous 5/9 - 1
1-180904930-G-A c.1885G>A p.G629R Missense 5/9 - 1
1-180904930-G-C c.1885G>C p.G629R Missense 5/9 - 1
1-180904939-C-T c.1894C>T p.Q632* Nonsense 5/9 - 2
1-180904940-A-G c.1895A>G p.Q632R Missense 5/9 - 1
1-180904942-G-A c.1897G>A p.A633T Missense 5/9 - 1
1-180904947-C-A c.1902C>A p.G634= Synonymous 5/9 - 1
1-180904951-G-A c.1906G>A p.A636T Missense 5/9 - 5
1-180904953-G-C c.1908G>C p.A636= Synonymous 5/9 - 2
1-180904960-C-T c.1915C>T p.R639W Missense 5/9 - 1
1-180904968-A-C c.1923A>C p.Q641H Missense 5/9 - 1
1-180904968-A-T c.1923A>T p.Q641H Missense 5/9 - 1
1-180904969-G-A c.1924G>A p.G642S Missense 5/9 - 1
1-180904978-C-T c.1933C>T p.P645S Missense 5/9 - 2
1-180904980-G-A c.1935G>A p.P645= Synonymous 5/9 - 1
1-180904982-G-A c.1937G>A p.R646Q Missense 5/9 - 1
1-180904984-C-T c.1939C>T p.L647= Synonymous 5/9 - 1
1-180904986-G-A c.1941G>A p.L647= Synonymous 5/9 - 1
1-180904986-G-C c.1941G>C p.L647= Synonymous 5/9 - 1
1-180904986-G-T c.1941G>T p.L647= Synonymous 5/9 - 1
1-180904988-G-A c.1943G>A p.R648Q Missense 5/9 - 1
1-180904993-C-T c.1948C>T p.R650W Missense 5/9 - 1
1-180904997-G-C c.1952G>C p.G651A Missense 5/9 - 1
1-180904999-T-C c.1954T>C p.S652P Missense 5/9 - 1
1-180905001-C-A c.1956C>A p.S652= Synonymous 5/9 - 1
1-180905001-C-G c.1956C>G p.S652= Synonymous 5/9 - 1
1-180905001-C-T c.1956C>T p.S652= Synonymous 5/9 - 1
1-180905003-G-C c.1958G>C p.R653T Missense 5/9 - 1
1-180905013-C-A c.1968C>A p.G656= Synonymous 5/9 - 1
1-180905013-C-G c.1968C>G p.G656= Synonymous 5/9 - 1
1-180905013-C-T c.1968C>T p.G656= Synonymous 5/9 - 2
1-180905014-C-T c.1969C>T p.H657Y Missense 5/9 - 5
1-180905017-A-G c.1972A>G p.R658G Missense 5/9 - 1
1-180905025-C-T c.1980C>T p.S660= Synonymous 5/9 - 1
1-180905028-G-A c.1983G>A p.K661= Synonymous 5/9 - 1
1-180905033-C-T c.1988C>T p.A663V Missense 5/9 - 1
1-180905035-G-A c.1990G>A p.E664K Missense 5/9 - 1
1-180905035-G-C c.1990G>C p.E664Q Missense 5/9 - 3
1-180905039-C-T c.1994C>T p.A665V Missense 5/9 - 1
1-180905040-G-A c.1995G>A p.A665= Synonymous 5/9 - 2
1-180905051-G-A c.2006G>A p.W669* Nonsense 5/9 - 1
1-180905052-G-A c.2007G>A p.W669* Nonsense 5/9 - 1
1-180905054-G-A c.2009G>A p.G670D Missense 5/9 - 1
1-180905054-G-T c.2009G>T p.G670V Missense 5/9 - 1
1-180905059-C-T c.2014C>T p.Q672* Nonsense 5/9 - 1
1-180905061-G-A c.2016G>A p.Q672= Synonymous 5/9 - 1
1-180905066-A-G c.2021A>G p.Q674R Missense 5/9 - 2
1-180905067-G-T c.2022G>T p.Q674H Missense 5/9 - 1
1-180905068-C-A c.2023C>A p.Q675K Missense 5/9 - 1
1-180905077-C-A c.2032C>A p.P678T Missense 5/9 - 1
1-180905077-C-T c.2032C>T p.P678S Missense 5/9 - 1
1-180905083-G-A c.2038G>A p.A680T Missense 5/9 - 1
1-180905095-G-C c.2050G>C p.E684Q Missense 5/9 - 1
1-180905101-GA-G c.2060del p.N687Mfs*3 Frameshift 5/9 - 1
1-180905109-G-T c.2064G>T p.E688D Missense 5/9 - 1
1-180905120-G-C c.2075G>C p.G692A Missense 5/9 - 1
1-180905125-G-T c.2080G>T p.G694* Nonsense 5/9 - 1
1-180905128-C-T c.2083C>T p.H695Y Missense 5/9 - 1
1-180905132-C-T c.2087C>T p.T696M Missense 5/9 - 1
1-180905133-GCCTGAAGGAA-G c.2090_2099del p.P697Lfs*4 Frameshift 5/9 - 1
1-180905146-C-T c.2101C>T p.L701= Synonymous 5/9 - 3
1-180905148-A-C c.2103A>C p.L701= Synonymous 5/9 - 1
1-180905148-A-G c.2103A>G p.L701= Synonymous 5/9 - 1
1-180905148-A-T c.2103A>T p.L701= Synonymous 5/9 - 1
1-180905158-G-A c.2113G>A p.E705K Missense 5/9 - 1
1-180905161-G-A c.2116G>A p.D706N Missense 5/9 - 1
1-180905163-T-C c.2118T>C p.D706= Synonymous 5/9 - 1
1-180905164-G-A c.2119G>A p.A707T Missense 5/9 - 2
1-180905171-C-A c.2126C>A p.P709H Missense 5/9 - 1
1-180905176-G-A c.2131G>A p.D711N Missense 5/9 - 1
1-180905182-G-A c.2137G>A p.E713K Missense 5/9 - 2
1-180905192-G-A c.2147G>A p.R716Q Missense 5/9 - 1
1-180905207-C-T c.2162C>T p.P721L Missense 5/9 - 1
1-180905209-C-T c.2164C>T p.Q722* Nonsense 5/9 - 2
1-180905216-A-G c.2171A>G p.Q724R Missense 5/9 - 1
1-180905221-G-T c.2176G>T p.G726* Nonsense 5/9 - 1
1-180905224-C-A c.2179C>A p.P727T Missense 5/9 - 2
1-180905224-C-T c.2179C>T p.P727S Missense 5/9 - 1
1-180905232-G-A c.2187G>A p.L729= Synonymous 5/9 - 1
1-180905233-G-A c.2188G>A p.G730R Missense 5/9 - 1
1-180905233-G-C c.2188G>C p.G730R Missense 5/9 - 1
1-180905239-C-A c.2194C>A p.H732N Missense 5/9 - 1
1-180905242-C-T c.2197C>T p.Q733* Nonsense 5/9 - 1
1-180905257-G-A c.2212G>A p.D738N Missense 5/9 - 1
1-180905263-C-G c.2218C>G p.R740G Missense 5/9 - 3
1-180905263-C-T c.2218C>T p.R740W Missense 5/9 - 11
1-180905272-TG-AC c.2227_2228delinsAC p.C743T Missense 5/9 - 1
1-180905278-A-AG c.2233_2234insG p.T745Sfs*12 Frameshift 5/9 - 1
1-180905278-A-G c.2233A>G p.T745A Missense 5/9 - 1
1-180905280-A-C c.2235A>C p.T745= Synonymous 5/9 - 1
1-180905280-A-G c.2235A>G p.T745= Synonymous 5/9 - 1
1-180905280-A-T c.2235A>T p.T745= Synonymous 5/9 - 1
1-180905282-C-A c.2237C>A p.A746D Missense 5/9 - 1
1-180905288-C-T c.2243C>T p.A748V Missense 5/9 - 1
1-180905292-C-A c.2247C>A p.T749= Synonymous 5/9 - 1
1-180905292-C-G c.2247C>G p.T749= Synonymous 5/9 - 1
1-180905292-C-T c.2247C>T p.T749= Synonymous 5/9 - 1
1-180905294-C-T c.2249C>T p.T750I Missense 5/9 - 7
1-180905300-C-T c.2255C>T p.P752L Missense 5/9 - 3
1-180905307-G-A c.2262G>A p.T754= Synonymous 5/9 - 1
1-180905307-G-C c.2262G>C p.T754= Synonymous 5/9 - 1
1-180905307-G-T c.2262G>T p.T754= Synonymous 5/9 - 1
1-180905311-G-A c.2266G>A p.E756K Missense 5/9 - 1
1-180905315-C-A c.2270C>A p.S757* Nonsense 5/9 - 1
1-180905315-C-G c.2270C>G p.S757* Nonsense 5/9 - 1
1-180905318-C-T c.2273C>T p.S758L Missense 5/9 - 1
1-180905319-G-A c.2274G>A p.S758= Synonymous 5/9 - 3
1-180905321-G-A c.2276G>A p.G759E Missense 5/9 - 1
1-180905328-A-T c.2283A>T p.G761= Synonymous 5/9 - 1
1-180905330-G-C c.2285G>C p.G762A Missense 5/9 - 1
1-180905352-C-T c.2307C>T p.S769= Synonymous 5/9 - 14
1-180905355-AC-A c.2310del p.H770Qfs*231 Frameshift 5/9 - 1
1-180905360-C-T c.2315C>T p.S772F Missense 5/9 - 2
1-180905361-C-T c.2316C>T p.S772= Synonymous 5/9 - 1
1-180905365-G-A c.2320G>A p.E774K Missense 5/9 - 2
1-180905367-A-C c.2322A>C p.E774D Missense 5/9 - 1
1-180905367-A-T c.2322A>T p.E774D Missense 5/9 - 1
1-180905375-C-G c.2330C>G p.S777C Missense 5/9 - 1
1-180905382-C-T c.2337C>T p.S779= Synonymous 5/9 - 1
1-180905396-G-C c.2351G>C p.S784T Missense 5/9 - 1
1-180905397-C-T c.2352C>T p.S784= Synonymous 5/9 - 1
1-180905399-A-G c.2354A>G p.H785R Missense 5/9 - 1
1-180905406-G-A c.2361G>A p.E787= Synonymous 5/9 - 1
1-180905413-G-C c.2368G>C p.A790P Missense 5/9 - 1
1-180905415-C-A c.2370C>A p.A790= Synonymous 5/9 - 1
1-180905423-A-C c.2378A>C p.Q793P Missense 5/9 - 2
1-180905425-G-A c.2380G>A p.A794T Missense 5/9 - 1
1-180905427-C-A c.2382C>A p.A794= Synonymous 5/9 - 1
1-180905431-C-T c.2386C>T p.Q796* Nonsense 5/9 - 1
1-180905437-A-G c.2392A>G p.T798A Missense 5/9 - 2
1-180905432-AGCCAACAGCTTCCTTGTGTCCTGAAGGCTGGGC-A c.2394_2426del p.A799_T809del InFrameDeletion 5/9 - 1
1-180905442-T-A c.2397T>A p.A799= Synonymous 5/9 - 1
1-180905442-T-C c.2397T>C p.A799= Synonymous 5/9 - 1
1-180905442-T-G c.2397T>G p.A799= Synonymous 5/9 - 1
1-180905446-T-A c.2401T>A p.L801M Missense 5/9 - 1
1-180905446-T-C c.2401T>C p.L801= Synonymous 5/9 - 2
1-180905448-G-A c.2403G>A p.L801= Synonymous 5/9 - 2
1-180905448-G-C c.2403G>C p.L801F Missense 5/9 - 3
1-180905448-G-T c.2403G>T p.L801F Missense 5/9 - 26
1-180905451-T-G c.2406T>G p.C802W Missense 5/9 - 1
1-180905458-G-T c.2413G>T p.G805C Missense 5/9 - 1
1-180905462-G-C c.2417G>C p.W806S Missense 5/9 - 3
1-180905464-G-A c.2419G>A p.A807T Missense 5/9 - 1
1-180905465-C-T c.2420C>T p.A807V Missense 5/9 - 3
1-180905470-A-C c.2425A>C p.T809P Missense 5/9 - 1
1-180905471-C-A c.2426C>A p.T809N Missense 5/9 - 7
1-180905473-C-T c.2428C>T p.P810S Missense 5/9 - 4
1-180905476-C-A c.2431C>A p.P811T Missense 5/9 - 2
1-180905478-C-T c.2433C>T p.P811= Synonymous 5/9 - 1
1-180905475-TC-T c.2435del p.P812Lfs*189 Frameshift 5/9 - 1
1-180905480-C-A c.2435C>A p.P812H Missense 5/9 - 1
1-180905483-C-T c.2438C>T p.S813L Missense 5/9 - 2
1-180905498-C-T c.2453C>T p.S818L Missense 5/9 - 1
1-180905503-G-C c.2458G>C p.V820L Missense 5/9 - 2
1-180905503-G-T c.2458G>T p.V820L Missense 5/9 - 2
1-180905527-G-C c.2482G>C p.A828P Missense 5/9 - 1
1-180905532-A-G c.2487A>G p.G829= Synonymous 5/9 - 1
1-180905533-C-G c.2488C>G p.L830V Missense 5/9 - 1
1-180905539-A-G c.2494A>G p.R832G Missense 5/9 - 1
1-180905550-C-A c.2505C>A p.D835E Missense 5/9 - 2
1-180905559-G-C c.2514G>C p.E838D Missense 5/9 - 1
1-180905559-G-T c.2514G>T p.E838D Missense 5/9 - 1
1-180905564-T-C c.2519T>C p.V840A Missense 5/9 - 1
1-180905566-G-T c.2521G>T p.G841C Missense 5/9 - 1
1-180905572-C-T c.2527C>T p.P843S Missense 5/9 - 5
1-180905575-C-A c.2530C>A p.R844= Synonymous 5/9 - 1
1-180905575-C-T c.2530C>T p.R844W Missense 5/9 - 4
1-180905577-G-A c.2532G>A p.R844= Synonymous 5/9 - 1
1-180905577-G-C c.2532G>C p.R844= Synonymous 5/9 - 1
1-180905577-G-T c.2532G>T p.R844= Synonymous 5/9 - 1
1-180905581-C-T c.2536C>T p.P846S Missense 5/9 - 3
1-180905587-AGA-CAT c.2542_2544delinsCAT p.R848H Missense 5/9 - 1
1-180905588-G-A c.2543G>A p.R848K Missense 5/9 - 4
1-180905587-A-C c.2542A>C p.R848= Synonymous 5/9 - 1
1-180905589-A-G c.2544A>G p.R848= Synonymous 5/9 - 1
1-180905594-C-T c.2549C>T p.A850V Missense 5/9 - 2
1-180905596-G-A c.2551G>A p.V851I Missense 5/9 - 1
1-180905597-T-C c.2552T>C p.V851A Missense 5/9 - 1
1-180905601-C-G c.2556C>G p.L852= Synonymous 5/9 - 1
1-180905602-AG-TA c.2557_2558delinsTA p.R853* Nonsense 5/9 - 1
1-180905607-C-A c.2562C>A p.T854= Synonymous 5/9 - 2
1-180905618-C-T c.2573C>T p.P858L Missense 5/9 - 1
1-180905621-C-A c.2576C>A p.P859Q Missense 5/9 - 1
1-180905625-A-G c.2580A>G p.S860= Synonymous 5/9 - 1
1-180905640-C-T c.2595C>T p.S865= Synonymous 5/9 - 4
1-180905662-C-T c.2617C>T p.L873= Synonymous 5/9 - 1
1-180905680-A-C c.2635A>C p.N879H Missense 5/9 - 1
1-180905683-A-G c.2638A>G p.N880D Missense 5/9 - 2
1-180905686-T-G c.2641T>G p.C881G Missense 5/9 - 1
1-180905694-C-T c.2649C>T p.N883= Synonymous 5/9 - 16
1-180905695-AG-CT c.2650_2651inv p.S884L Missense 5/9 - 1
1-180905697-C-T c.2652C>T p.S884= Synonymous 5/9 - 1
1-180905700-A-G c.2655A>G p.A885= Synonymous 5/9 - 1
1-180905701-C-A c.2656C>A p.P886T Missense 5/9 - 1
1-180905701-C-T c.2656C>T p.P886S Missense 5/9 - 2
1-180905702-C-T c.2657C>T p.P886L Missense 5/9 - 1
1-180905704-C-A c.2659C>A p.R887= Synonymous 5/9 - 1
1-180905706-G-A c.2661G>A p.R887= Synonymous 5/9 - 1
1-180905706-G-C c.2661G>C p.R887= Synonymous 5/9 - 1
1-180905706-G-T c.2661G>T p.R887= Synonymous 5/9 - 1
1-180905705-G-A c.2660G>A p.R887Q Missense 5/9 - 1
1-180905709-G-A c.2664G>A p.G888= Synonymous 5/9 - 2
1-180905709-G-C c.2664G>C p.G888= Synonymous 5/9 - 2
1-180905709-G-T c.2664G>T p.G888= Synonymous 5/9 - 3
1-180905711-T-C c.2666T>C p.L889P Missense 5/9 - 1
1-180905723-A-G c.2678A>G p.Y893C Missense 5/9 - 1
1-180905725-G-A c.2680G>A p.G894R Missense 5/9 - 3
1-180905726-G-A c.2681G>A p.G894E Missense 5/9 - 1
1-180905727-G-A c.2682G>A p.G894= Synonymous 5/9 - 1
1-180905734-G-C c.2689G>C p.V897L Missense 5/9 - 1
1-180905734-GTC-ATG c.2689_2691delinsATG p.V897M Missense 5/9 - 1
1-180905739-C-T c.2694C>T p.H898= Synonymous 5/9 - 1
1-180905746-AGG-CAT c.2701_2703delinsCAT p.R901H Missense 5/9 - 1
1-180905746-AGG-TGT c.2701_2703delinsTGT p.R901C Missense 5/9 - 1
1-180905748-G-A c.2703G>A p.R901= Synonymous 5/9 - 1
1-180905755-A-C c.2710A>C p.R904= Synonymous 5/9 - 1
1-180905757-G-A c.2712G>A p.R904= Synonymous 5/9 - 1
1-180905758-G-C c.2713G>C p.G905R Missense 5/9 - 1
1-180905764-T-C c.2719T>C p.C907R Missense 5/9 - 1
1-180905766-C-A c.2721C>A p.C907* Nonsense 5/9 - 1
1-180905767-A-G c.2722A>G p.S908G Missense 5/9 - 2
1-180905771-G-A c.2726G>A p.R909Q Missense 5/9 - 1
1-180905771-G-T c.2726G>T p.R909L Missense 5/9 - 1
1-180905775-A-C c.2730A>C p.E910D Missense 5/9 - 1
1-180905783-C-T c.2738C>T p.P913L Missense 5/9 - 1
1-180905784-G-A c.2739G>A p.P913= Synonymous 5/9 - 3
1-180905784-G-C c.2739G>C p.P913= Synonymous 5/9 - 1
1-180905784-G-T c.2739G>T p.P913= Synonymous 5/9 - 1
1-180905785-C-A c.2740C>A p.P914T Missense 5/9 - 1
1-180905787-C-A c.2742C>A p.P914= Synonymous 5/9 - 1
1-180905787-C-G c.2742C>G p.P914= Synonymous 5/9 - 1
1-180905787-C-T c.2742C>T p.P914= Synonymous 5/9 - 1
1-180905788-C-T c.2743C>T p.L915= Synonymous 5/9 - 1
1-180905790-G-A c.2745G>A p.L915= Synonymous 5/9 - 1
1-180905790-G-C c.2745G>C p.L915= Synonymous 5/9 - 1
1-180905790-G-T c.2745G>T p.L915= Synonymous 5/9 - 1
1-180905791-G-A c.2746G>A p.E916K Missense 5/9 - 1
1-180905797-A-C c.2752A>C p.S918R Missense 5/9 - 1
1-180905799-C-A c.2754C>A p.S918R Missense 5/9 - 1
1-180905799-C-G c.2754C>G p.S918R Missense 5/9 - 1
1-180905799-C-T c.2754C>T p.S918= Synonymous 5/9 - 1
1-180905801-G-C c.2756G>C p.R919T Missense 5/9 - 1
1-180905805-T-A c.2760T>A p.D920E Missense 5/9 - 1
1-180905806-G-T c.2761G>T p.G921* Nonsense 5/9 - 1
1-180905841-G-A c.2761+35G>A - IntronicSNV - 5/8 1
1-180907696-C-T c.2767C>T p.P923S Missense 6/9 - 1
1-180907699-C-T c.2770C>T p.Q924* Nonsense 6/9 - 1
1-180907703-G-A c.2774G>A p.G925D Missense 6/9 - 1
1-180907717-G-A c.2788G>A p.A930T Missense 6/9 - 1
1-180907718-C-A c.2789C>A p.A930E Missense 6/9 - 1
1-180907724-T-C c.2795T>C p.V932A Missense 6/9 - 1
1-180907726-G-A c.2797G>A p.A933T Missense 6/9 - 1
1-180907733-T-C c.2804T>C p.I935T Missense 6/9 - 1
1-180907742-C-A c.2813C>A p.T938K Missense 6/9 - 1
1-180907742-C-T c.2813C>T p.T938M Missense 6/9 - 2
1-180907750-A-G c.2821A>G p.T941A Missense 6/9 - 1
1-180907753-C-A c.2824C>A p.L942I Missense 6/9 - 1
1-180907757-C-A c.2828C>A p.S943Y Missense 6/9 - 1
1-180907757-C-T c.2828C>T p.S943F Missense 6/9 - 2
1-180907775-C-A c.2846C>A p.S949* Nonsense 6/9 - 1
1-180907775-C-G c.2846C>G p.S949* Nonsense 6/9 - 1
1-180907788-G-C c.2859G>C p.K953N Missense 6/9 - 2
1-180907788-G-T c.2859G>T p.K953N Missense 6/9 - 2
1-180907795-G-C c.2866G>C p.E956Q Missense 6/9 - 1
1-180907811-G-A c.2882G>A p.R961K Missense 6/9 - 1
1-180907814-C-T c.2885C>T p.T962I Missense 6/9 - 1
1-180907821-A-C c.2892A>C p.S964= Synonymous 6/9 - 1
1-180907821-A-G c.2892A>G p.S964= Synonymous 6/9 - 1
1-180907821-A-T c.2892A>T p.S964= Synonymous 6/9 - 1
1-180907822-G-A c.2893G>A p.G965R Missense 6/9 - 2
1-180907822-G-C c.2893G>C p.G965R Missense 6/9 - 1
1-180907822-GG-CA c.2893_2894delinsCA p.G965Q Missense 6/9 - 2
1-180907823-G-A c.2894G>A p.G965E Missense 6/9 - 1
1-180907826-C-T c.2897C>T p.S966F Missense 6/9 - 1
1-180907833-A-G c.2904A>G p.G968= Synonymous 6/9 - 1
1-180907837-G-A c.2908G>A p.V970M Missense 6/9 - 2
1-180907841-T-A c.2912T>A p.L971Q Missense 6/9 - 1
1-180907840-C-T c.2911C>T p.L971= Synonymous 6/9 - 1
1-180907842-G-A c.2913G>A p.L971= Synonymous 6/9 - 1
1-180907842-G-C c.2913G>C p.L971= Synonymous 6/9 - 1
1-180907842-G-T c.2913G>T p.L971= Synonymous 6/9 - 1
1-180907844-C-T c.2915C>T p.S972L Missense 6/9 - 1
1-180910146-T-C c.2919-35T>C - IntronicSNV - 6/8 1
1-180910180-G-C c.2919-1G>C - IntronicSNV - 6/8 1
1-180910189-C-T c.2927C>T p.A976V Missense 7/9 - 1
1-180910191-G-A c.2929G>A p.G977R Missense 7/9 - 3
1-180910191-G-C c.2929G>C p.G977R Missense 7/9 - 2
1-180910200-A-G c.2938A>G p.T980A Missense 7/9 - 3
1-180910204-G-C c.2942G>C p.G981A Missense 7/9 - 1
1-180910207-C-G c.2945C>G p.P982R Missense 7/9 - 1
1-180910216-C-A c.2954C>A p.P985H Missense 7/9 - 1
1-180910212-TC-T c.2955del p.S986Rfs*15 Frameshift 7/9 - 1
1-180910218-T-C c.2956T>C p.S986P Missense 7/9 - 1
1-180910219-C-A c.2957C>A p.S986* Nonsense 7/9 - 1
1-180910219-C-T c.2957C>T p.S986L Missense 7/9 - 1
1-180910222-C-T c.2960C>T p.A987V Missense 7/9 - 1
1-180910227-C-A c.2965C>A p.P989T Missense 7/9 - 1
1-180910232-G-T c.2970G>T p.L990F Missense 7/9 - 1
1-180910235-C-A c.2973C>A p.D991E Missense 7/9 - 1
1-180910235-C-G c.2973C>G p.D991E Missense 7/9 - 1
1-180910242-A-G c.2980A>G p.K994E Missense 7/9 - 3
1-180910270-C-T c.3008C>T p.T1003I Missense 7/9 - 1
1-180910269-A-AC c.3010dup p.L1004Pfs*170 Frameshift 7/9 - 1
1-180910275-G-T c.3013G>T p.G1005W Missense 7/9 - 1
1-180910278-C-T c.3016C>T p.L1006= Synonymous 7/9 - 3
1-180910279-T-TG c.3018dup p.K1007Efs*167 Frameshift 7/9 - 1
1-180910280-G-A c.3018G>A p.L1006= Synonymous 7/9 - 3
1-180910280-G-C c.3018G>C p.L1006= Synonymous 7/9 - 4
1-180910280-G-T c.3018G>T p.L1006= Synonymous 7/9 - 3
1-180910290-T-A c.3028T>A p.F1010I Missense 7/9 - 5
1-180910290-T-C c.3028T>C p.F1010L Missense 7/9 - 2
1-180910292-C-A c.3030C>A p.F1010L Missense 7/9 - 2
1-180910292-C-G c.3030C>G p.F1010L Missense 7/9 - 2
1-180910302-G-A c.3040G>A p.G1014S Missense 7/9 - 2
1-180910303-G-A c.3041G>A p.G1014D Missense 7/9 - 1
1-180910319-C-A c.3057C>A p.P1019= Synonymous 7/9 - 1
1-180910327-G-A c.3065G>A p.G1022D Missense 7/9 - 1
1-180910328-C-A c.3066C>A p.G1022= Synonymous 7/9 - 1
1-180910328-C-G c.3066C>G p.G1022= Synonymous 7/9 - 1
1-180910328-C-T c.3066C>T p.G1022= Synonymous 7/9 - 1
1-180910330-A-C c.3068A>C p.K1023T Missense 7/9 - 1
1-180910330-A-T c.3068A>T p.K1023M Missense 7/9 - 1
1-180910331-G-C c.3069G>C p.K1023N Missense 7/9 - 1
1-180910336-G-A c.3074G>A p.R1025H Missense 7/9 - 1
1-180910340-C-T c.3078C>T p.S1026= Synonymous 7/9 - 1
1-180910342-A-G c.3080A>G p.Y1027C Missense 7/9 - 3
1-180910348-T-C c.3086T>C p.V1029A Missense 7/9 - 1
1-180910361-G-A c.3099G>A p.Q1033= Synonymous 7/9 - 1
1-180910363-C-T c.3101C>T p.P1034L Missense 7/9 - 2
1-180910364-C-A c.3102C>A p.P1034= Synonymous 7/9 - 1
1-180910364-C-G c.3102C>G p.P1034= Synonymous 7/9 - 1
1-180910364-C-T c.3102C>T p.P1034= Synonymous 7/9 - 2
1-180910365-G-A c.3103G>A p.A1035T Missense 7/9 - 1
1-180910369-C-T c.3107C>T p.P1036L Missense 7/9 - 3
1-180910370-G-A c.3108G>A p.P1036= Synonymous 7/9 - 1
1-180910371-C-T c.3109C>T p.P1037S Missense 7/9 - 4
1-180910375-G-T c.3113G>T p.G1038V Missense 7/9 - 2
1-180910379-G-C c.3117G>C p.L1039= Synonymous 7/9 - 1
1-180910382-G-A c.3120G>A p.T1040= Synonymous 7/9 - 1
1-180910391-C-CA c.3130dup p.R1044Kfs*130 Frameshift 7/9 - 1
1-180910393-G-T c.3131G>T p.R1044M Missense 7/9 - 1
1-180910394-G-T c.3132G>T p.R1044S Missense 7/9 - 1
1-180910395-G-C c.3133G>C p.A1045P Missense 7/9 - 1
1-180910396-C-G c.3134C>G p.A1045G Missense 7/9 - 1
1-180910397-C-A c.3135C>A p.A1045= Synonymous 7/9 - 3
1-180910397-C-G c.3135C>G p.A1045= Synonymous 7/9 - 1
1-180910397-C-T c.3135C>T p.A1045= Synonymous 7/9 - 1
1-180910398-C-T c.3136C>T p.P1046S Missense 7/9 - 1
1-180910401-TC-AG c.3139_3140delinsAG p.S1047R Missense 7/9 - 1
1-180910411-C-A c.3149C>A p.S1050Y Missense 7/9 - 1
1-180910413-C-G c.3151C>G p.L1051V Missense 7/9 - 3
1-180910414-T-C c.3152T>C p.L1051P Missense 7/9 - 1
1-180910416-C-A c.3154C>A p.H1052N Missense 7/9 - 1
1-180910417-A-T c.3155A>T p.H1052L Missense 7/9 - 2
1-180910419-C-A c.3157C>A p.P1053T Missense 7/9 - 1
1-180910420-C-A c.3158C>A p.P1053Q Missense 7/9 - 2
1-180910420-C-T c.3158C>T p.P1053L Missense 7/9 - 3
1-180911213-G-C c.3159+792G>C - IntronicSNV - 7/8 1
1-180911215-T-C c.3159+794T>C - IntronicSNV - 7/8 1
1-180913194-A-G c.3160-331A>G - IntronicSNV - 7/8 1
1-180913194-A-T c.3160-331A>T - IntronicSNV - 7/8 1
1-180913445-G-A c.3160-80G>A - IntronicSNV - 7/8 1
1-180913529-C-T c.3164C>T p.S1055L Missense 8/9 - 1
1-180913531-C-A c.3166C>A p.P1056T Missense 8/9 - 2
1-180913533-C-A c.3168C>A p.P1056= Synonymous 8/9 - 1
1-180913537-C-T c.3172C>T p.H1058Y Missense 8/9 - 5
1-180913540-C-T c.3175C>T p.Q1059* Nonsense 8/9 - 5
1-180913542-G-A c.3177G>A p.Q1059= Synonymous 8/9 - 1
1-180913544-G-A c.3179G>A p.R1060H Missense 8/9 - 1
1-180913546-C-A c.3181C>A p.R1061= Synonymous 8/9 - 1
1-180913546-C-G c.3181C>G p.R1061G Missense 8/9 - 1
1-180913546-C-T c.3181C>T p.R1061W Missense 8/9 - 1
1-180913548-G-C c.3183G>C p.R1061= Synonymous 8/9 - 1
1-180913548-G-T c.3183G>T p.R1061= Synonymous 8/9 - 1
1-180913547-G-A c.3182G>A p.R1061Q Missense 8/9 - 3
1-180913547-G-T c.3182G>T p.R1061L Missense 8/9 - 7
1-180913548-G-A c.3183G>A p.R1061= Synonymous 8/9 - 3
1-180913558-T-G c.3193T>G p.S1065A Missense 8/9 - 1
1-180913579-C-A c.3214C>A p.L1072M Missense 8/9 - 1
1-180913579-CTG-TTT c.3214_3216delinsTTT p.L1072F Missense 8/9 - 1
1-180913582-C-A c.3217C>A p.L1073M Missense 8/9 - 1
1-180913590-C-T c.3225C>T p.S1075= Synonymous 8/9 - 1
1-180913593-G-T c.3228G>T p.K1076N Missense 8/9 - 1
1-180913597-A-C c.3232A>C p.N1078H Missense 8/9 - 1
1-180913597-A-G c.3232A>G p.N1078D Missense 8/9 - 34
1-180913597-A-T c.3232A>T p.N1078Y Missense 8/9 - 1
1-180913600-C-T c.3235C>T p.R1079W Missense 8/9 - 6
1-180913601-G-A c.3236G>A p.R1079Q Missense 8/9 - 1
1-180913604-C-T c.3239C>T p.S1080F Missense 8/9 - 1
1-180913606-A-G c.3241A>G p.S1081G Missense 8/9 - 1
1-180913610-T-A c.3245T>A p.L1082H Missense 8/9 - 1
1-180913611-C-A c.3246C>A p.L1082= Synonymous 8/9 - 1
1-180913611-C-G c.3246C>G p.L1082= Synonymous 8/9 - 1
1-180913611-C-T c.3246C>T p.L1082= Synonymous 8/9 - 1
1-180913614-C-T c.3249C>T p.Y1083= Synonymous 8/9 - 1
1-180913621-G-A c.3256G>A p.A1086T Missense 8/9 - 1
1-180913630-G-A c.3265G>A p.G1089R Missense 8/9 - 1
1-180913631-G-A c.3266G>A p.G1089E Missense 8/9 - 4
1-180913635-C-A c.3270C>A p.D1090E Missense 8/9 - 1
1-180913640-G-A c.3275G>A p.S1092N Missense 8/9 - 4
1-180913644-A-C c.3279A>C p.A1093= Synonymous 8/9 - 1
1-180913644-A-G c.3279A>G p.A1093= Synonymous 8/9 - 1
1-180913644-A-T c.3279A>T p.A1093= Synonymous 8/9 - 1
1-180913651-A-G c.3286A>G p.R1096G Missense 8/9 - 1
1-180913654-T-C c.3287+2T>C - IntronicSNV - 8/8 1
1-180913681-T-C c.3287+29T>C - IntronicSNV - 8/8 1
1-180913733-G-A c.3287+81G>A - IntronicSNV - 8/8 1
1-180913874-C-T c.3287+222C>T - IntronicSNV - 8/8 2
1-180914304-C-T c.3288-135C>T - IntronicSNV - 8/8 3
1-180914441-C-T c.3290C>T p.P1097L Missense 9/9 - 1
1-180914445-C-A c.3294C>A p.A1098= Synonymous 9/9 - 1
1-180914445-C-G c.3294C>G p.A1098= Synonymous 9/9 - 1
1-180914446-A-C c.3295A>C p.K1099Q Missense 9/9 - 1
1-180914447-A-C c.3296A>C p.K1099T Missense 9/9 - 1
1-180914448-G-C c.3297G>C p.K1099N Missense 9/9 - 1
1-180914448-G-T c.3297G>T p.K1099N Missense 9/9 - 2
1-180914449-A-C c.3298A>C p.T1100P Missense 9/9 - 1
1-180914453-C-T c.3302C>T p.S1101L Missense 9/9 - 1
1-180914455-C-A c.3304C>A p.P1102T Missense 9/9 - 1
1-180914455-C-G c.3304C>G p.P1102A Missense 9/9 - 1
1-180914455-C-T c.3304C>T p.P1102S Missense 9/9 - 1
1-180914456-C-T c.3305C>T p.P1102L Missense 9/9 - 1
1-180914458-C-A c.3307C>A p.R1103= Synonymous 9/9 - 1
1-180914460-G-A c.3309G>A p.R1103= Synonymous 9/9 - 1
1-180914460-G-C c.3309G>C p.R1103= Synonymous 9/9 - 1
1-180914460-G-T c.3309G>T p.R1103= Synonymous 9/9 - 1
1-180914459-G-T c.3308G>T p.R1103L Missense 9/9 - 1
1-180914462-G-A c.3311G>A p.R1104H Missense 9/9 - 4
1-180914464-G-A c.3313G>A p.A1105T Missense 9/9 - 1
1-180914469-C-A c.3318C>A p.L1106= Synonymous 9/9 - 2
1-180914469-C-G c.3318C>G p.L1106= Synonymous 9/9 - 2
1-180914469-C-T c.3318C>T p.L1106= Synonymous 9/9 - 4
1-180914473-G-A c.3322G>A p.V1108M Missense 9/9 - 1
1-180914479-G-A c.3328G>A p.D1110N Missense 9/9 - 1
1-180914480-A-G c.3329A>G p.D1110G Missense 9/9 - 8
1-180914481-C-T c.3330C>T p.D1110= Synonymous 9/9 - 1
1-180914482-G-A c.3331G>A p.V1111M Missense 9/9 - 3
1-180914484-G-A c.3333G>A p.V1111= Synonymous 9/9 - 1
1-180914496-C-A c.3345C>A p.S1115R Missense 9/9 - 1
1-180914501-C-T c.3350C>T p.A1117V Missense 9/9 - 1
1-180914503-C-A c.3352C>A p.R1118S Missense 9/9 - 2
1-180914504-G-A c.3353G>A p.R1118H Missense 9/9 - 1
1-180914505-C-A c.3354C>A p.R1118= Synonymous 9/9 - 1
1-180914505-C-G c.3354C>G p.R1118= Synonymous 9/9 - 1
1-180914505-C-T c.3354C>T p.R1118= Synonymous 9/9 - 3
1-180914509-G-A c.3358G>A p.V1120M Missense 9/9 - 3
1-180914512-G-T c.3361G>T p.G1121C Missense 9/9 - 1
1-180914514-C-T c.3363C>T p.G1121= Synonymous 9/9 - 2
1-180914515-C-T c.3364C>T p.R1122C Missense 9/9 - 2
1-180914516-G-A c.3365G>A p.R1122H Missense 9/9 - 3
1-180914523-G-A c.3372G>A p.V1124= Synonymous 9/9 - 2
1-180914524-G-A c.3373G>A p.E1125K Missense 9/9 - 1
1-180914529-G-A c.3378G>A p.V1126= Synonymous 9/9 - 1
1-180914534-C-T c.3383C>T p.P1128L Missense 9/9 - 5
1-180914536-G-A c.3385G>A p.D1129N Missense 9/9 - 1
1-180914538-C-G c.3387C>G p.D1129E Missense 9/9 - 1
1-180914538-C-T c.3387C>T p.D1129= Synonymous 9/9 - 1
1-180914539-G-A c.3388G>A p.G1130S Missense 9/9 - 1
1-180914539-G-C c.3388G>C p.G1130R Missense 9/9 - 1
1-180914543-C-T c.3392C>T p.T1131I Missense 9/9 - 1
1-180914546-G-A c.3395G>A p.S1132N Missense 9/9 - 1
1-180914545-A-C c.3394A>C p.S1132R Missense 9/9 - 2
1-180914547-C-A c.3396C>A p.S1132R Missense 9/9 - 4
1-180914547-C-G c.3396C>G p.S1132R Missense 9/9 - 2
1-180914563-CGC-TGG c.3412_3414delinsTGG p.R1138W Missense 9/9 - 1
1-180914563-C-T c.3412C>T p.R1138C Missense 9/9 - 1
1-180914564-G-A c.3413G>A p.R1138H Missense 9/9 - 1
1-180914565-C-A c.3414C>A p.R1138= Synonymous 9/9 - 1
1-180914565-C-G c.3414C>G p.R1138= Synonymous 9/9 - 1
1-180914565-C-T c.3414C>T p.R1138= Synonymous 9/9 - 1
1-180914567-C-T c.3416C>T p.S1139F Missense 9/9 - 1
1-180914569-C-G c.3418C>G p.P1140A Missense 9/9 - 1
1-180914569-C-T c.3418C>T p.P1140S Missense 9/9 - 1
1-180914572-G-A c.3421G>A p.G1141R Missense 9/9 - 1
1-180914572-GGG-AGC c.3421_3423delinsAGC p.G1141S Missense 9/9 - 1
1-180914577-C-A c.3426C>A p.G1142= Synonymous 9/9 - 1
1-180914577-C-G c.3426C>G p.G1142= Synonymous 9/9 - 1
1-180914577-C-T c.3426C>T p.G1142= Synonymous 9/9 - 1
1-180914578-ACT-TAA c.3427_3429delinsTAA p.T1143* Nonsense 9/9 - 1
1-180914578-CA-C c.3427del p.T1143Lfs*60 Frameshift 9/9 - 1
1-180914579-CTTTCGGCT-C c.3430_3437del p.F1144Lfs*27 Frameshift 9/9 - 1
1-180914579-CT-C c.3431del p.F1144Sfs*59 Frameshift 9/9 - 1
1-180914583-C-T c.3432C>T p.F1144= Synonymous 9/9 - 2
1-180914584-G-A c.3433G>A p.G1145S Missense 9/9 - 1
1-180914592-C-T c.3441C>T p.C1147= Synonymous 9/9 - 3
1-180914602-G-A c.3451G>A p.G1151R Missense 9/9 - 1
1-180914610-G-A c.3459G>A p.G1153= Synonymous 9/9 - 1
1-180914611-C-T c.3460C>T p.R1154C Missense 9/9 - 1
1-180914614-C-G c.3463C>G p.P1155A Missense 9/9 - 1
1-180914621-C-T c.3470C>T p.S1157L Missense 9/9 - 1
1-180914625-T-A c.3474T>A p.G1158= Synonymous 9/9 - 2
1-180914625-T-C c.3474T>C p.G1158= Synonymous 9/9 - 1
1-180914625-T-G c.3474T>G p.G1158= Synonymous 9/9 - 1
1-180914630-C-A c.3479C>A p.P1160H Missense 9/9 - 1
1-180914631-C-T c.3480C>T p.P1160= Synonymous 9/9 - 1
1-180914633-C-T c.3482C>T p.S1161F Missense 9/9 - 1
1-180914638-C-T c.3487C>T p.L1163F Missense 9/9 - 2
1-180914640-TC-T c.3491del p.P1164Lfs*39 Frameshift 9/9 - 1
1-180914644-C-T c.3493C>T p.Q1165* Nonsense 9/9 - 1
1-180914647-C-A c.3496C>A p.P1166T Missense 9/9 - 1
1-180914661-C-T c.3510C>T p.G1170= Synonymous 9/9 - 1
1-180914662-G-A c.3511G>A p.G1171S Missense 9/9 - 1
1-180914662-G-C c.3511G>C p.G1171R Missense 9/9 - 1
1-180914664-C-T c.3513C>T p.G1171= Synonymous 9/9 - 2
1-180914669-G-A c.3518G>A p.S1173N Missense 9/9 - 1
1-180914669-G-T c.3518G>T p.S1173I Missense 9/9 - 1
1-180914674-C-T c.3523C>T p.Q1175* Nonsense 9/9 - 1
1-180914677-G-A c.3526G>A p.G1176S Missense 9/9 - 2
1-180914678-G-A c.3527G>A p.G1176D Missense 9/9 - 4
1-180914680-A-G c.3529A>G p.R1177G Missense 9/9 - 1
1-180914681-G-T c.3530G>T p.R1177M Missense 9/9 - 2
1-180914680-A-C c.3529A>C p.R1177= Synonymous 9/9 - 2
1-180914682-G-A c.3531G>A p.R1177= Synonymous 9/9 - 5
1-180914683-G-A c.3532G>A p.A1178T Missense 9/9 - 1
1-180914693-T-A c.3542T>A p.L1181Q Missense 9/9 - 1
1-180914694-G-A c.3543G>A p.L1181= Synonymous 9/9 - 1
1-180914695-T-C c.3544T>C p.W1182R Missense 9/9 - 1
1-180914699-C-T c.3548C>T p.S1183L Missense 9/9 - 1
1-180914712-G-A c.3561G>A p.L1187= Synonymous 9/9 - 1
1-180914718-T-C c.3567T>C p.F1189= Synonymous 9/9 - 1
1-180914720-G-A c.3569G>A p.G1190D Missense 9/9 - 1
1-180914728-G-A c.*4G>A - 3-UTRSNV 9/9 - 1
1-180914821-C-CT c.*98dup - 3-UTRInsertion 9/9 - 1
1-180914867-G-A c.*143G>A - 3-UTRSNV 9/9 - 1
1-180914867-G-T c.*143G>T - 3-UTRSNV 9/9 - 1
1-180914963-G-A c.*239G>A - 3-UTRSNV 9/9 - 1
1-180914966-C-T c.*242C>T - 3-UTRSNV 9/9 - 1
1-180915099-C-G c.*375C>G - 3-UTRSNV 9/9 - 1
1-180915099-C-T c.*375C>T - 3-UTRSNV 9/9 - 1
1-180915596-T-C c.*872T>C - IntergenicSNV 9/9 - 1
1-180920026-T-C c.*5302T>C - IntergenicSNV 9/9 - 1