APOB

APOB apolipoprotein B

Annotation transcript: NM_000384.3

8769 unique variant annotations were identified in 1955 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
2-21224373-T-C c.*229A>G - 3-UTRSNV 29/29 - 1
2-21224422-C-A c.*180G>T - 3-UTRSNV 29/29 - 1
2-21224422-C-T c.*180G>A - 3-UTRSNV 29/29 - 1
2-21224423-G-A c.*179C>T - 3-UTRSNV 29/29 - 1
2-21224571-A-C c.*31T>G - 3-UTRSNV 29/29 - 1
2-21224571-A-G c.*31T>C - 3-UTRSNV 29/29 - 1
2-21224591-C-A c.*11G>T - 3-UTRSNV 29/29 - 1
2-21224603-T-C c.13691A>G p.*4564= Synonymous 29/29 - 1
2-21224611-G-C c.13683C>G p.I4561M Missense 29/29 - 1
2-21224614-A-G c.13680T>C p.T4560= Synonymous 29/29 - 2
2-21224615-G-A c.13679C>T p.T4560I Missense 29/29 - 1
2-21224618-A-G c.13676T>C p.L4559P Missense 29/29 - 1
2-21224623-T-A c.13671A>T p.G4557= Synonymous 29/29 - 1
2-21224623-T-C c.13671A>G p.G4557= Synonymous 29/29 - 1
2-21224623-T-G c.13671A>C p.G4557= Synonymous 29/29 - 1
2-21224624-C-G c.13670G>C p.G4557A Missense 29/29 - 1
2-21224624-C-T c.13670G>A p.G4557E Missense 29/29 - 1
2-21224628-G-A c.13666C>T p.P4556S Missense 29/29 - 5
2-21224631-C-T c.13663G>A p.A4555T Missense 29/29 - 1
2-21224635-C-A c.13659G>T p.K4553N Missense 29/29 - 2
2-21224635-C-G c.13659G>C p.K4553N Missense 29/29 - 3
2-21224638-C-T c.13656G>A p.M4552I Missense 29/29 - 1
2-21224642-GTAGGGGTT-G c.13645_13652del p.N4549Hfs*16 Frameshift 29/29 - 3
2-21224642-T-C c.13652A>G p.Y4551C Missense 29/29 - 1
2-21224643-A-G c.13651T>C p.Y4551H Missense 29/29 - 2
2-21224644-GG-TT c.13649_13650delinsAA p.P4550Q Missense 29/29 - 1
2-21224647-G-A c.13647C>T p.N4549= Synonymous 29/29 - 1
2-21224647-G-T c.13647C>A p.N4549K Missense 29/29 - 1
2-21224649-T-TA c.13644_13645insT p.N4549* Nonsense 29/29 - 1
2-21224652-T-A c.13642A>T p.M4548L Missense 29/29 - 3
2-21224652-T-G c.13642A>C p.M4548L Missense 29/29 - 1
2-21224650-CATGACTGTGGTTG-C c.13631_13643del p.S4544* Frameshift 29/29 - 1
2-21224656-T-G c.13638A>C p.T4546= Synonymous 29/29 - 1
2-21224671-C-A c.13623G>T p.K4541N Missense 29/29 - 2
2-21224671-C-G c.13623G>C p.K4541N Missense 29/29 - 2
2-21224671-CT-C c.13622del p.K4541Sfs*8 Frameshift 29/29 - 4
2-21224678-A-C c.13616T>G p.L4539R Missense 29/29 - 1
2-21224678-A-G c.13616T>C p.L4539P Missense 29/29 - 1
2-21224679-G-A c.13615C>T p.L4539= Synonymous 29/29 - 1
2-21224680-T-C c.13614A>G p.L4538= Synonymous 29/29 - 1
2-21224684-T-C c.13610A>G p.E4537G Missense 29/29 - 1
2-21224685-C-A c.13609G>T p.E4537* Nonsense 29/29 - 1
2-21224685-C-T c.13609G>A p.E4537K Missense 29/29 - 6
2-21224687-G-A c.13607C>T p.T4536M Missense 29/29 - 1
2-21224689-G-A c.13605C>T p.I4535= Synonymous 29/29 - 1
2-21224689-G-T c.13605C>A p.I4535= Synonymous 29/29 - 1
2-21224691-T-C c.13603A>G p.I4535V Missense 29/29 - 1
2-21224693-T-C c.13601A>G p.Y4534C Missense 29/29 - 2
2-21224697-T-A c.13597A>T p.I4533L Missense 29/29 - 1
2-21224698-C-G c.13596G>C p.L4532= Synonymous 29/29 - 2
2-21224710-G-A c.13584C>T p.Y4528= Synonymous 29/29 - 2
2-21224714-T-A c.13580A>T p.N4527I Missense 29/29 - 1
2-21224718-G-A c.13576C>T p.Q4526* Nonsense 29/29 - 1
2-21224718-G-T c.13576C>A p.Q4526K Missense 29/29 - 2
2-21224720-A-T c.13574T>A p.I4525N Missense 29/29 - 1
2-21224721-T-C c.13573A>G p.I4525V Missense 29/29 - 1
2-21224722-G-A c.13572C>T p.S4524= Synonymous 29/29 - 2
2-21224722-G-C c.13572C>G p.S4524= Synonymous 29/29 - 1
2-21224722-G-T c.13572C>A p.S4524= Synonymous 29/29 - 1
2-21224723-G-A c.13571C>T p.S4524F Missense 29/29 - 1
2-21224725-C-T c.13569G>A p.L4523= Synonymous 29/29 - 1
2-21224730-C-A c.13564G>T p.D4522Y Missense 29/29 - 3
2-21224730-C-T c.13564G>A p.D4522N Missense 29/29 - 2
2-21224731-A-G c.13563T>C p.I4521= Synonymous 29/29 - 1
2-21224737-T-A c.13557A>T p.R4519S Missense 29/29 - 1
2-21224742-T-C c.13552A>G p.K4518E Missense 29/29 - 1
2-21224743-G-A c.13551C>T p.S4517= Synonymous 29/29 - 1
2-21224744-G-A c.13550C>T p.S4517F Missense 29/29 - 5
2-21224748-C-T c.13546G>A p.E4516K Missense 29/29 - 4
2-21224756-A-C c.13538T>G p.F4513C Missense 29/29 - 1
2-21224757-A-ACTT c.13536_13537insAAG p.K4512dup InFrameInsertion 29/29 - 1
2-21224757-AT-A c.13536del p.K4512Nfs*9 Frameshift 29/29 - 1
2-21224767-G-C c.13527C>G p.Y4509* Nonsense 29/29 - 2
2-21224767-G-T c.13527C>A p.Y4509* Nonsense 29/29 - 3
2-21224769-A-T c.13525T>A p.Y4509N Missense 29/29 - 1
2-21224772-C-A c.13522G>T p.D4508Y Missense 29/29 - 1
2-21224774-G-A c.13520C>T p.S4507F Missense 29/29 - 1
2-21224776-G-A c.13518C>T p.L4506= Synonymous 29/29 - 1
2-21224776-G-C c.13518C>G p.L4506= Synonymous 29/29 - 1
2-21224776-G-T c.13518C>A p.L4506= Synonymous 29/29 - 1
2-21224772-CAG-C c.13520_13521del p.S4507* Frameshift 29/29 - 1
2-21224784-C-T c.13510G>A p.D4504N Missense 29/29 - 5
2-21224786-G-T c.13508C>A p.S4503* Nonsense 29/29 - 1
2-21224793-C-A c.13501G>T p.D4501Y Missense 29/29 - 3
2-21224807-C-A c.13487G>T p.R4496I Missense 29/29 - 2
2-21224807-C-G c.13487G>C p.R4496T Missense 29/29 - 2
2-21224807-C-T c.13487G>A p.R4496K Missense 29/29 - 2
2-21224808-T-C c.13486A>G p.R4496G Missense 29/29 - 2
2-21224811-A-G c.13483T>C p.F4495L Missense 29/29 - 1
2-21224813-T-C c.13481A>G p.Q4494R Missense 29/29 - 1
2-21224811-ACTG-A c.13480_13482del p.Q4494del InFrameDeletion 29/29 - 18
2-21224818-G-A c.13476C>T p.H4492= Synonymous 29/29 - 1
2-21224821-G-A c.13473C>T p.Y4491= Synonymous 29/29 - 1
2-21224822-T-A c.13472A>T p.Y4491F Missense 29/29 - 1
2-21224826-C-T c.13468G>A p.D4490N Missense 29/29 - 2
2-21224827-A-G c.13467T>C p.S4489= Synonymous 29/29 - 1
2-21224826-CAG-C c.13466_13467del p.S4489* Frameshift 29/29 - 1
2-21224831-A-G c.13463T>C p.I4488T Missense 29/29 - 1
2-21224834-AT-TA c.13459_13460delinsTA p.I4487* Nonsense 29/29 - 3
2-21224837-T-G c.13457A>C p.K4486T Missense 29/29 - 1
2-21224839-C-A c.13455G>T p.K4485N Missense 29/29 - 2
2-21224839-C-G c.13455G>C p.K4485N Missense 29/29 - 1
2-21224840-T-G c.13454A>C p.K4485T Missense 29/29 - 1
2-21224841-T-TA c.13452_13453insT p.K4485* Nonsense 29/29 - 1
2-21224842-C-A c.13452G>T p.T4484= Synonymous 29/29 - 1
2-21224842-C-G c.13452G>C p.T4484= Synonymous 29/29 - 1
2-21224842-C-T c.13452G>A p.T4484= Synonymous 29/29 - 8
2-21224843-G-A c.13451C>T p.T4484M Missense 29/29 - 14
2-21224843-G-T c.13451C>A p.T4484K Missense 29/29 - 4
2-21224845-C-A c.13449G>T p.A4483= Synonymous 29/29 - 1
2-21224845-C-T c.13449G>A p.A4483= Synonymous 29/29 - 1
2-21224846-G-A c.13448C>T p.A4483V Missense 29/29 - 4
2-21224846-G-T c.13448C>A p.A4483E Missense 29/29 - 2
2-21224847-C-T c.13447G>A p.A4483T Missense 29/29 - 1
2-21224848-A-C c.13446T>G p.I4482M Missense 29/29 - 1
2-21224849-A-G c.13445T>C p.I4482T Missense 29/29 - 3
2-21224850-T-C c.13444A>G p.I4482V Missense 29/29 - 2
2-21224852-G-A c.13442C>T p.A4481V Missense 29/29 - 3
2-21224853-C-A c.13441G>T p.A4481S Missense 29/29 - 2
2-21224853-C-G c.13441G>C p.A4481P Missense 29/29 - 4
2-21224853-C-T c.13441G>A p.A4481T Missense 29/29 - 29
2-21224854-C-T c.13440G>A p.Q4480= Synonymous 29/29 - 1
2-21224856-G-A c.13438C>T p.Q4480* Nonsense 29/29 - 1
2-21224858-CT-C c.13435del p.S4479Afs*9 Frameshift 29/29 - 1
2-21224867-A-C c.13427T>G p.I4476R Missense 29/29 - 1
2-21224871-C-CA c.13422_13423insT p.E4475* Nonsense 29/29 - 1
2-21224871-C-T c.13423G>A p.E4475K Missense 29/29 - 5
2-21224874-G-A c.13420C>T p.Q4474* Nonsense 29/29 - 1
2-21224874-G-C c.13420C>G p.Q4474E Missense 29/29 - 1
2-21224877-C-T c.13417G>A p.A4473T Missense 29/29 - 1
2-21224882-G-A c.13412C>T p.A4471V Missense 29/29 - 1
2-21224883-C-A c.13411G>T p.A4471S Missense 29/29 - 2
2-21224885-G-A c.13409C>T p.S4470F Missense 29/29 - 3
2-21224885-G-T c.13409C>A p.S4470Y Missense 29/29 - 1
2-21224895-C-A c.13399G>T p.A4467S Missense 29/29 - 1
2-21224904-C-CA c.13389_13390insT p.E4464* Nonsense 29/29 - 1
2-21224904-C-T c.13390G>A p.E4464K Missense 29/29 - 2
2-21224907-T-C c.13387A>G p.K4463E Missense 29/29 - 2
2-21224908-C-A c.13386G>T p.G4462= Synonymous 29/29 - 1
2-21224908-C-G c.13386G>C p.G4462= Synonymous 29/29 - 1
2-21224908-C-T c.13386G>A p.G4462= Synonymous 29/29 - 1
2-21224909-C-T c.13385G>A p.G4462E Missense 29/29 - 2
2-21224911-T-G c.13383A>C p.K4461N Missense 29/29 - 1
2-21224915-C-G c.13379G>C p.G4460A Missense 29/29 - 1
2-21224915-C-T c.13379G>A p.G4460E Missense 29/29 - 3
2-21224919-C-T c.13375G>A p.D4459N Missense 29/29 - 1
2-21224919-C-CT c.13374dup p.D4459Rfs*20 Frameshift 29/29 - 1
2-21224921-G-A c.13373C>T p.P4458L Missense 29/29 - 2
2-21224922-G-T c.13372C>A p.P4458T Missense 29/29 - 1
2-21224925-C-A c.13369G>T p.D4457Y Missense 29/29 - 1
2-21224925-C-T c.13369G>A p.D4457N Missense 29/29 - 6
2-21224926-G-T c.13368C>A p.T4456= Synonymous 29/29 - 1
2-21224927-G-A c.13367C>T p.T4456I Missense 29/29 - 1
2-21224928-T-C c.13366A>G p.T4456A Missense 29/29 - 1
2-21224933-A-G c.13361T>C p.I4454T Missense 29/29 - 1
2-21224939-A-T c.13355T>A p.L4452H Missense 29/29 - 1
2-21224943-A-T c.13351T>A p.Y4451N Missense 29/29 - 1
2-21224945-T-G c.13349A>C p.E4450A Missense 29/29 - 1
2-21224946-C-T c.13348G>A p.E4450K Missense 29/29 - 6
2-21224947-C-G c.13347G>C p.Q4449H Missense 29/29 - 2
2-21224949-G-T c.13345C>A p.Q4449K Missense 29/29 - 2
2-21224951-A-T c.13343T>A p.I4448N Missense 29/29 - 2
2-21224952-T-A c.13342A>T p.I4448F Missense 29/29 - 1
2-21224957-C-G c.13337G>C p.R4446T Missense 29/29 - 5
2-21224960-T-C c.13334A>G p.H4445R Missense 29/29 - 1
2-21224963-A-G c.13331T>C p.L4444P Missense 29/29 - 3
2-21224970-G-T c.13324C>A p.Q4442K Missense 29/29 - 3
2-21224973-CA-C c.13320del p.E4441Sfs*36 Frameshift 29/29 - 1
2-21224976-C-A c.13318G>T p.V4440F Missense 29/29 - 1
2-21224974-AACTTG-A c.13315_13319del p.Q4439* Frameshift 29/29 - 1
2-21224983-T-G c.13311A>C p.S4437= Synonymous 29/29 - 3
2-21224984-G-A c.13310C>T p.S4437L Missense 29/29 - 1
2-21224986-G-A c.13308C>T p.L4436= Synonymous 29/29 - 4
2-21224987-A-G c.13307T>C p.L4436P Missense 29/29 - 1
2-21224987-A-T c.13307T>A p.L4436H Missense 29/29 - 1
2-21224988-G-A c.13306C>T p.L4436F Missense 29/29 - 2
2-21224988-G-T c.13306C>A p.L4436I Missense 29/29 - 1
2-21224991-G-A c.13303C>T p.Q4435* Nonsense 29/29 - 1
2-21224992-G-A c.13302C>T p.S4434= Synonymous 29/29 - 1
2-21224993-G-T c.13301C>A p.S4434Y Missense 29/29 - 2
2-21224996-G-C c.13298C>G p.T4433S Missense 29/29 - 1
2-21224999-A-C c.13295T>G p.F4432C Missense 29/29 - 1
2-21225001-G-GTACCA c.13292_13293insTGGTA p.F4432Gfs*47 Frameshift 29/29 - 1
2-21225002-T-C c.13292A>G p.N4431S Missense 29/29 - 3
2-21225006-A-T c.13288T>A p.S4430T Missense 29/29 - 4
2-21225010-A-C c.13284T>G p.S4428R Missense 29/29 - 1
2-21225010-A-T c.13284T>A p.S4428R Missense 29/29 - 1
2-21225012-T-G c.13282A>C p.S4428R Missense 29/29 - 1
2-21225014-A-G c.13280T>C p.V4427A Missense 29/29 - 1
2-21225014-A-T c.13280T>A p.V4427D Missense 29/29 - 1
2-21225024-C-T c.13270G>A p.E4424K Missense 29/29 - 1
2-21225026-G-A c.13268C>T p.S4423F Missense 29/29 - 4
2-21225026-G-C c.13268C>G p.S4423C Missense 29/29 - 2
2-21225029-T-G c.13265A>C p.H4422P Missense 29/29 - 2
2-21225030-G-A c.13264C>T p.H4422Y Missense 29/29 - 2
2-21225031-G-A c.13263C>T p.F4421= Synonymous 29/29 - 3
2-21225031-G-C c.13263C>G p.F4421L Missense 29/29 - 1
2-21225031-G-T c.13263C>A p.F4421L Missense 29/29 - 1
2-21225033-A-G c.13261T>C p.F4421L Missense 29/29 - 1
2-21225039-T-TA c.13254dup p.K4419* Nonsense 29/29 - 1
2-21225044-G-T c.13250C>A p.A4417D Missense 29/29 - 1
2-21225045-C-T c.13249G>A p.A4417T Missense 29/29 - 1
2-21225047-A-G c.13247T>C p.V4416A Missense 29/29 - 1
2-21225047-A-T c.13247T>A p.V4416D Missense 29/29 - 1
2-21225048-C-G c.13246G>C p.V4416L Missense 29/29 - 4
2-21225052-AC-A c.13242del p.L4415* Frameshift 29/29 - 1
2-21225054-G-A c.13240C>T p.L4414= Synonymous 29/29 - 1
2-21225054-G-C c.13240C>G p.L4414V Missense 29/29 - 1
2-21225054-G-T c.13240C>A p.L4414M Missense 29/29 - 1
2-21225055-G-C c.13239C>G p.N4413K Missense 29/29 - 2
2-21225055-G-T c.13239C>A p.N4413K Missense 29/29 - 1
2-21225068-C-A c.13226G>T p.S4409I Missense 29/29 - 1
2-21225068-C-G c.13226G>C p.S4409T Missense 29/29 - 1
2-21225072-C-CT c.13221dup p.V4408Sfs*12 Frameshift 29/29 - 1
2-21225074-A-G c.13220T>C p.I4407T Missense 29/29 - 2
2-21225074-A-T c.13220T>A p.I4407K Missense 29/29 - 1
2-21225076-C-A c.13218G>T p.K4406N Missense 29/29 - 1
2-21225076-C-G c.13218G>C p.K4406N Missense 29/29 - 1
2-21225081-C-A c.13213G>T p.E4405* Nonsense 29/29 - 1
2-21225081-C-G c.13213G>C p.E4405Q Missense 29/29 - 1
2-21225081-C-T c.13213G>A p.E4405K Missense 29/29 - 4
2-21225083-T-C c.13211A>G p.E4404G Missense 29/29 - 1
2-21225084-C-T c.13210G>A p.E4404K Missense 29/29 - 3
2-21225090-C-A c.13204G>T p.E4402* Nonsense 29/29 - 2
2-21225091-A-G c.13203T>C p.Y4401= Synonymous 29/29 - 1
2-21225091-A-T c.13203T>A p.Y4401* Nonsense 29/29 - 1
2-21225092-T-C c.13202A>G p.Y4401C Missense 29/29 - 1
2-21225098-T-G c.13196A>C p.K4399T Missense 29/29 - 1
2-21225099-T-A c.13195A>T p.K4399* Nonsense 29/29 - 1
2-21225103-T-C c.13191A>G p.T4397= Synonymous 29/29 - 1
2-21225104-G-C c.13190C>G p.T4397R Missense 29/29 - 1
2-21225106-CC-AT c.13187_13188delinsAT p.W4396Y Missense 29/29 - 3
2-21225107-C-A c.13187G>T p.W4396L Missense 29/29 - 1
2-21225107-C-G c.13187G>C p.W4396S Missense 29/29 - 1
2-21225110-C-T c.13184G>A p.G4395D Missense 29/29 - 1
2-21225111-C-T c.13183G>A p.G4395S Missense 29/29 - 3
2-21225113-A-G c.13181T>C p.V4394A Missense 29/29 - 6
2-21225117-T-C c.13177A>G p.I4393V Missense 29/29 - 1
2-21225118-A-C c.13176T>G p.S4392R Missense 29/29 - 1
2-21225118-A-T c.13176T>A p.S4392R Missense 29/29 - 2
2-21225120-T-G c.13174A>C p.S4392R Missense 29/29 - 1
2-21225119-C-T c.13175G>A p.S4392N Missense 29/29 - 5
2-21225121-T-G c.13173A>C p.P4391= Synonymous 29/29 - 1
2-21225122-G-A c.13172C>T p.P4391L Missense 29/29 - 1
2-21225125-T-C c.13169A>G p.D4390G Missense 29/29 - 1
2-21225126-C-A c.13168G>T p.D4390Y Missense 29/29 - 2
2-21225126-C-G c.13168G>C p.D4390H Missense 29/29 - 3
2-21225134-T-A c.13160A>T p.E4387V Missense 29/29 - 2
2-21225135-C-T c.13159G>A p.E4387K Missense 29/29 - 6
2-21225135-CT-C c.13158del p.E4387Nfs*7 Frameshift 29/29 - 1
2-21225140-C-A c.13154G>T p.R4385L Missense 29/29 - 1
2-21225140-C-G c.13154G>C p.R4385P Missense 29/29 - 1
2-21225140-C-T c.13154G>A p.R4385H Missense 29/29 - 7
2-21225141-G-A c.13153C>T p.R4385C Missense 29/29 - 3
2-21225143-A-G c.13151T>C p.L4384P Missense 29/29 - 6
2-21225147-C-A c.13147G>T p.A4383S Missense 29/29 - 3
2-21225148-C-A c.13146G>T p.M4382I Missense 29/29 - 1
2-21225148-C-G c.13146G>C p.M4382I Missense 29/29 - 2
2-21225148-C-T c.13146G>A p.M4382I Missense 29/29 - 1
2-21225154-G-A c.13140C>T p.Y4380= Synonymous 29/29 - 1
2-21225159-G-A c.13135C>T p.Q4379* Nonsense 29/29 - 1
2-21225161-T-C c.13133A>G p.H4378R Missense 29/29 - 1
2-21225164-A-G c.13130T>C p.I4377T Missense 29/29 - 2
2-21225164-GAT-G c.13129_13130del p.I4377Pfs*9 Frameshift 29/29 - 1
2-21225168-G-A c.13126C>T p.Q4376* Nonsense 29/29 - 2
2-21225176-T-C c.13118A>G p.E4373G Missense 29/29 - 1
2-21225177-C-G c.13117G>C p.E4373Q Missense 29/29 - 2
2-21225178-T-C c.13116A>G p.Q4372= Synonymous 29/29 - 1
2-21225180-G-A c.13114C>T p.Q4372* Nonsense 29/29 - 2
2-21225180-G-C c.13114C>G p.Q4372E Missense 29/29 - 1
2-21225183-A-G c.13111T>C p.S4371P Missense 29/29 - 1
2-21225185-G-A c.13109C>T p.A4370V Missense 29/29 - 2
2-21225192-G-A c.13102C>T p.Q4368* Nonsense 29/29 - 3
2-21225192-G-C c.13102C>G p.Q4368E Missense 29/29 - 4
2-21225192-GA-G c.13101del p.Q4368Rfs*26 Frameshift 29/29 - 2
2-21225195-G-A c.13099C>T p.L4367F Missense 29/29 - 2
2-21225196-C-G c.13098G>C p.E4366D Missense 29/29 - 1
2-21225198-C-T c.13096G>A p.E4366K Missense 29/29 - 7
2-21225199-G-A c.13095C>T p.N4365= Synonymous 29/29 - 2
2-21225208-A-G c.13086T>C p.F4362= Synonymous 29/29 - 1
2-21225211-T-C c.13083A>G p.E4361= Synonymous 29/29 - 2
2-21225213-C-A c.13081G>T p.E4361* Nonsense 29/29 - 1
2-21225213-C-T c.13081G>A p.E4361K Missense 29/29 - 1
2-21225228-G-C c.13066C>G p.L4356V Missense 29/29 - 1
2-21225234-G-A c.13060C>T p.L4354F Missense 29/29 - 1
2-21225235-G-T c.13059C>A p.C4353* Nonsense 29/29 - 1
2-21225239-A-T c.13055T>A p.L4352Q Missense 29/29 - 1
2-21225241-G-A c.13053C>T p.N4351= Synonymous 29/29 - 1
2-21225241-GTTTTCT-G c.13047_13052del p.K4349_E4350del InFrameDeletion 29/29 - 1
2-21225243-TTTC-T c.13048_13050del p.E4350del InFrameDeletion 29/29 - 1
2-21225246-C-T c.13048G>A p.E4350K Missense 29/29 - 2
2-21225249-T-TAGAGTAC c.13044_13045insGTACTCT p.K4349Vfs*3 Frameshift 29/29 - 1
2-21225258-T-C c.13036A>G p.K4346E Missense 29/29 - 5
2-21225259-A-C c.13035T>G p.F4345L Missense 29/29 - 1
2-21225259-A-T c.13035T>A p.F4345L Missense 29/29 - 1
2-21225261-A-C c.13033T>G p.F4345V Missense 29/29 - 1
2-21225261-A-G c.13033T>C p.F4345L Missense 29/29 - 1
2-21225265-A-C c.13029T>G p.Y4343* Nonsense 29/29 - 1
2-21225265-A-G c.13029T>C p.Y4343= Synonymous 29/29 - 1
2-21225265-A-T c.13029T>A p.Y4343* Nonsense 29/29 - 1
2-21225264-CAT-C c.13028_13029del p.Y4343Cfs*3 Frameshift 29/29 - 3
2-21225268-T-C c.13026A>G p.P4342= Synonymous 29/29 - 1
2-21225269-G-A c.13025C>T p.P4342L Missense 29/29 - 1
2-21225270-G-A c.13024C>T p.P4342S Missense 29/29 - 4
2-21225268-TG-T c.13025del p.P4342Hfs*7 Frameshift 29/29 - 2
2-21225271-G-A c.13023C>T p.I4341= Synonymous 29/29 - 4
2-21225271-G-T c.13023C>A p.I4341= Synonymous 29/29 - 2
2-21225272-A-T c.13022T>A p.I4341N Missense 29/29 - 3
2-21225274-A-G c.13020T>C p.Y4340= Synonymous 29/29 - 2
2-21225280-A-G c.13014T>C p.S4338= Synonymous 29/29 - 4
2-21225281-C-A c.13013G>T p.S4338I Missense 29/29 - 2
2-21225281-C-T c.13013G>A p.S4338N Missense 29/29 - 107
2-21225282-T-C c.13012A>G p.S4338G Missense 29/29 - 1
2-21225283-G-C c.13011C>G p.F4337L Missense 29/29 - 1
2-21225283-G-T c.13011C>A p.F4337L Missense 29/29 - 1
2-21225285-A-G c.13009T>C p.F4337L Missense 29/29 - 1
2-21225296-A-C c.12998T>G p.I4333S Missense 29/29 - 1
2-21225300-C-A c.12994G>T p.E4332* Nonsense 29/29 - 1
2-21225304-T-A c.12990A>T p.Q4330H Missense 29/29 - 1
2-21225304-T-G c.12990A>C p.Q4330H Missense 29/29 - 1
2-21225308-A-C c.12986T>G p.I4329S Missense 29/29 - 1
2-21225308-A-G c.12986T>C p.I4329T Missense 29/29 - 1
2-21225315-T-A c.12979A>T p.N4327Y Missense 29/29 - 1
2-21225316-A-C c.12978T>G p.I4326M Missense 29/29 - 2
2-21225317-A-T c.12977T>A p.I4326N Missense 29/29 - 2
2-21225321-G-C c.12973C>G p.L4325V Missense 29/29 - 1
2-21225324-A-G c.12970T>C p.Y4324H Missense 29/29 - 1
2-21225325-A-C c.12969T>G p.T4323= Synonymous 29/29 - 2
2-21225325-A-G c.12969T>C p.T4323= Synonymous 29/29 - 2
2-21225325-AG-CT c.12968_12969inv p.T4323K Missense 29/29 - 1
2-21225325-A-T c.12969T>A p.T4323= Synonymous 29/29 - 2
2-21225326-G-A c.12968C>T p.T4323I Missense 29/29 - 1
2-21225326-G-C c.12968C>G p.T4323S Missense 29/29 - 1
2-21225327-T-A c.12967A>T p.T4323S Missense 29/29 - 1
2-21225329-A-C c.12965T>G p.F4322C Missense 29/29 - 4
2-21225331-T-A c.12963A>T p.K4321N Missense 29/29 - 1
2-21225334-C-T c.12960G>A p.M4320I Missense 29/29 - 2
2-21225337-C-T c.12957G>A p.E4319= Synonymous 29/29 - 3
2-21225339-C-G c.12955G>C p.E4319Q Missense 29/29 - 1
2-21225343-C-T c.12951G>A p.L4317= Synonymous 29/29 - 2
2-21225345-G-C c.12949C>G p.L4317V Missense 29/29 - 2
2-21225346-C-T c.12948G>A p.Q4316= Synonymous 29/29 - 1
2-21225348-G-C c.12946C>G p.Q4316E Missense 29/29 - 1
2-21225349-T-A c.12945A>T p.K4315N Missense 29/29 - 1
2-21225349-T-G c.12945A>C p.K4315N Missense 29/29 - 1
2-21225351-T-C c.12943A>G p.K4315E Missense 29/29 - 1
2-21225354-T-C c.12940A>G p.I4314V Missense 29/29 - 23
2-21225357-T-A c.12937A>T p.N4313Y Missense 29/29 - 1
2-21225360-C-T c.12934G>A p.D4312N Missense 29/29 - 1
2-21225363-C-G c.12931G>C p.E4311Q Missense 29/29 - 1
2-21225372-G-A c.12922C>T p.Q4308* Nonsense 29/29 - 1
2-21225373-G-C c.12921C>G p.F4307L Missense 29/29 - 1
2-21225373-G-T c.12921C>A p.F4307L Missense 29/29 - 1
2-21225375-A-G c.12919T>C p.F4307L Missense 29/29 - 1
2-21225379-G-T c.12915C>A p.F4305L Missense 29/29 - 1
2-21225386-A-C c.12908T>G p.L4303* Nonsense 29/29 - 1
2-21225386-A-T c.12908T>A p.L4303* Nonsense 29/29 - 1
2-21225389-A-G c.12905T>C p.L4302P Missense 29/29 - 1
2-21225391-G-A c.12903C>T p.D4301= Synonymous 29/29 - 3
2-21225392-T-A c.12902A>T p.D4301V Missense 29/29 - 1
2-21225393-C-T c.12901G>A p.D4301N Missense 29/29 - 2
2-21225395-T-G c.12899A>C p.Q4300P Missense 29/29 - 1
2-21225398-A-C c.12896T>G p.L4299R Missense 29/29 - 3
2-21225400-A-G c.12894T>C p.N4298= Synonymous 29/29 - 1
2-21225401-T-A c.12893A>T p.N4298I Missense 29/29 - 1
2-21225404-C-T c.12890G>A p.R4297H Missense 29/29 - 3
2-21225405-G-A c.12889C>T p.R4297C Missense 29/29 - 3
2-21225410-A-C c.12884T>G p.V4295G Missense 29/29 - 1
2-21225414-C-T c.12880G>A p.E4294K Missense 29/29 - 5
2-21225417-T-TAATTCA c.12876_12877insTGAATT p.T4292_T4293ins* Nonsense 29/29 - 1
2-21225418-G-A c.12876C>T p.T4292= Synonymous 29/29 - 3
2-21225418-G-C c.12876C>G p.T4292= Synonymous 29/29 - 3
2-21225418-G-T c.12876C>A p.T4292= Synonymous 29/29 - 2
2-21225419-G-A c.12875C>T p.T4292I Missense 29/29 - 1
2-21225421-C-A c.12873G>T p.K4291N Missense 29/29 - 1
2-21225421-C-G c.12873G>C p.K4291N Missense 29/29 - 1
2-21225424-G-A c.12870C>T p.L4290= Synonymous 29/29 - 1
2-21225424-G-C c.12870C>G p.L4290= Synonymous 29/29 - 1
2-21225424-G-T c.12870C>A p.L4290= Synonymous 29/29 - 1
2-21225426-G-T c.12868C>A p.L4290I Missense 29/29 - 1
2-21225429-A-G c.12865T>C p.S4289P Missense 29/29 - 1
2-21225435-T-C c.12859A>G p.I4287V Missense 29/29 - 1
2-21225437-G-T c.12857C>A p.A4286D Missense 29/29 - 1
2-21225438-C-T c.12856G>A p.A4286T Missense 29/29 - 2
2-21225441-T-A c.12853A>T p.K4285* Nonsense 29/29 - 1
2-21225443-A-G c.12851T>C p.F4284S Missense 29/29 - 2
2-21225447-C-T c.12847G>A p.V4283I Missense 29/29 - 1
2-21225452-T-C c.12842A>G p.Q4281R Missense 29/29 - 1
2-21225455-G-A c.12839C>T p.A4280V Missense 29/29 - 3
2-21225455-G-C c.12839C>G p.A4280G Missense 29/29 - 1
2-21225457-T-G c.12837A>C p.E4279D Missense 29/29 - 1
2-21225459-C-A c.12835G>T p.E4279* Nonsense 29/29 - 1
2-21225462-T-A c.12832A>T p.K4278* Nonsense 29/29 - 1
2-21225463-T-C c.12831A>G p.S4277= Synonymous 29/29 - 1
2-21225464-G-C c.12830C>G p.S4277* Nonsense 29/29 - 1
2-21225464-G-T c.12830C>A p.S4277* Nonsense 29/29 - 1
2-21225468-A-C c.12826T>G p.L4276V Missense 29/29 - 1
2-21225470-T-A c.12824A>T p.D4275V Missense 29/29 - 1
2-21225470-T-G c.12824A>C p.D4275A Missense 29/29 - 1
2-21225475-C-T c.12819G>A p.L4273= Synonymous 29/29 - 2
2-21225477-A-G c.12817T>C p.L4273= Synonymous 29/29 - 1
2-21225477-A-T c.12817T>A p.L4273M Missense 29/29 - 1
2-21225483-C-T c.12811G>A p.E4271K Missense 29/29 - 4
2-21225485-C-G c.12809G>C p.R4270T Missense 29/29 - 33
2-21225485-C-T c.12809G>A p.R4270K Missense 29/29 - 11
2-21225485-CT-TG c.12808_12809delinsCA p.R4270Q Missense 29/29 - 1
2-21225486-T-A c.12808A>T p.R4270W Missense 29/29 - 1
2-21225486-T-C c.12808A>G p.R4270G Missense 29/29 - 2
2-21225488-T-A c.12806A>T p.Y4269F Missense 29/29 - 1
2-21225488-T-C c.12806A>G p.Y4269C Missense 29/29 - 1
2-21225490-C-T c.12804G>A p.M4268I Missense 29/29 - 1
2-21225491-A-G c.12803T>C p.M4268T Missense 29/29 - 6
2-21225493-C-T c.12801G>A p.S4267= Synonymous 29/29 - 2
2-21225494-G-A c.12800C>T p.S4267L Missense 29/29 - 1
2-21225496-G-A c.12798C>T p.I4266= Synonymous 29/29 - 1
2-21225496-G-C c.12798C>G p.I4266M Missense 29/29 - 6
2-21225496-G-T c.12798C>A p.I4266= Synonymous 29/29 - 2
2-21225496-G-GA c.12797dup p.S4267Lfs*4 Frameshift 29/29 - 1
2-21225497-A-G c.12797T>C p.I4266T Missense 29/29 - 1
2-21225500-A-G c.12794T>C p.V4265A Missense 29/29 - 20
2-21225500-A-T c.12794T>A p.V4265E Missense 29/29 - 1
2-21225502-A-C c.12792T>G p.D4264E Missense 29/29 - 1
2-21225502-A-T c.12792T>A p.D4264E Missense 29/29 - 1
2-21225512-T-C c.12782A>G p.K4261R Missense 29/29 - 1
2-21225512-TTA-T c.12780_12781del p.H4260Qfs*10 Frameshift 29/29 - 2
2-21225520-C-T c.12774G>A p.R4258= Synonymous 29/29 - 4
2-21225522-T-C c.12772A>G p.R4258G Missense 29/29 - 1
2-21225525-A-T c.12769T>A p.L4257I Missense 29/29 - 2
2-21225528-C-T c.12766G>A p.E4256K Missense 29/29 - 12
2-21225529-G-A c.12765C>T p.F4255= Synonymous 29/29 - 3
2-21225531-A-G c.12763T>C p.F4255L Missense 29/29 - 2
2-21225533-G-A c.12761C>T p.P4254L Missense 29/29 - 4
2-21225532-AG-A c.12761del p.P4254Lfs*4 Frameshift 29/29 - 1
2-21225534-G-A c.12760C>T p.P4254S Missense 29/29 - 6
2-21225536-A-G c.12758T>C p.L4253P Missense 29/29 - 1
2-21225537-G-A c.12757C>T p.L4253F Missense 29/29 - 2
2-21225548-A-G c.12746T>C p.L4249P Missense 29/29 - 1
2-21225549-G-T c.12745C>A p.L4249I Missense 29/29 - 1
2-21225552-C-T c.12742G>A p.D4248N Missense 29/29 - 1
2-21225553-T-A c.12741A>T p.Q4247H Missense 29/29 - 2
2-21225553-T-G c.12741A>C p.Q4247H Missense 29/29 - 3
2-21225555-G-A c.12739C>T p.Q4247* Nonsense 29/29 - 4
2-21225556-G-A c.12738C>T p.F4246= Synonymous 29/29 - 3
2-21225558-A-C c.12736T>G p.F4246V Missense 29/29 - 1
2-21225560-T-C c.12734A>G p.Y4245C Missense 29/29 - 1
2-21225560-T-G c.12734A>C p.Y4245S Missense 29/29 - 1
2-21225563-G-A c.12731C>T p.S4244F Missense 29/29 - 11
2-21225566-A-C c.12728T>G p.F4243C Missense 29/29 - 1
2-21225570-G-T c.12724C>A p.L4242M Missense 29/29 - 1
2-21225572-A-G c.12722T>C p.I4241T Missense 29/29 - 1
2-21225573-T-A c.12721A>T p.I4241L Missense 29/29 - 1
2-21225581-C-T c.12713G>A p.G4238D Missense 29/29 - 1
2-21225582-C-T c.12712G>A p.G4238S Missense 29/29 - 1
2-21225588-G-A c.12706C>T p.H4236Y Missense 29/29 - 6
2-21225594-T-C c.12700A>G p.K4234E Missense 29/29 - 2
2-21225595-C-A c.12699G>T p.S4233= Synonymous 29/29 - 2
2-21225595-C-G c.12699G>C p.S4233= Synonymous 29/29 - 2
2-21225595-C-T c.12699G>A p.S4233= Synonymous 29/29 - 8
2-21225596-G-A c.12698C>T p.S4233L Missense 29/29 - 14
2-21225597-A-T c.12697T>A p.S4233T Missense 29/29 - 6
2-21225598-A-C c.12696T>G p.Y4232* Nonsense 29/29 - 2
2-21225598-A-T c.12696T>A p.Y4232* Nonsense 29/29 - 3
2-21225599-T-C c.12695A>G p.Y4232C Missense 29/29 - 2
2-21225602-A-G c.12692T>C p.V4231A Missense 29/29 - 1
2-21225602-A-T c.12692T>A p.V4231E Missense 29/29 - 1
2-21225603-C-A c.12691G>T p.V4231L Missense 29/29 - 2
2-21225603-C-G c.12691G>C p.V4231L Missense 29/29 - 1
2-21225603-C-T c.12691G>A p.V4231I Missense 29/29 - 1
2-21225606-G-A c.12688C>T p.Q4230* Nonsense 29/29 - 1
2-21225606-G-T c.12688C>A p.Q4230K Missense 29/29 - 1
2-21225611-A-T c.12683T>A p.L4228Q Missense 29/29 - 1
2-21225612-G-C c.12682C>G p.L4228V Missense 29/29 - 4
2-21225615-C-A c.12679G>T p.V4227L Missense 29/29 - 1
2-21225615-C-G c.12679G>C p.V4227L Missense 29/29 - 1
2-21225615-C-T c.12679G>A p.V4227I Missense 29/29 - 1
2-21225616-C-A c.12678G>T p.T4226= Synonymous 29/29 - 1
2-21225617-G-A c.12677C>T p.T4226M Missense 29/29 - 3
2-21225618-T-C c.12676A>G p.T4226A Missense 29/29 - 1
2-21225619-C-A c.12675G>T p.G4225= Synonymous 29/29 - 1
2-21225619-C-G c.12675G>C p.G4225= Synonymous 29/29 - 1
2-21225619-C-T c.12675G>A p.G4225= Synonymous 29/29 - 2
2-21225620-C-G c.12674G>C p.G4225A Missense 29/29 - 1
2-21225621-C-G c.12673G>C p.G4225R Missense 29/29 - 3
2-21225621-C-T c.12673G>A p.G4225R Missense 29/29 - 5
2-21225624-C-T c.12670G>A p.V4224I Missense 29/29 - 1
2-21225625-C-T c.12669G>A p.E4223= Synonymous 29/29 - 2
2-21225627-C-G c.12667G>C p.E4223Q Missense 29/29 - 4
2-21225627-C-T c.12667G>A p.E4223K Missense 29/29 - 4
2-21225628-C-T c.12666G>A p.R4222= Synonymous 29/29 - 1
2-21225633-T-C c.12661A>G p.I4221V Missense 29/29 - 1
2-21225634-G-T c.12660C>A p.F4220L Missense 29/29 - 1
2-21225638-A-G c.12656T>C p.M4219T Missense 29/29 - 2
2-21225644-CA-GC c.12649_12650delinsGC p.C4217A Missense 29/29 - 1
2-21225644-CA-GT c.12649_12650delinsAC p.C4217T Missense 29/29 - 1
2-21225649-T-C c.12645A>G p.E4215= Synonymous 29/29 - 1
2-21225650-T-C c.12644A>G p.E4215G Missense 29/29 - 2
2-21225651-C-T c.12643G>A p.E4215K Missense 29/29 - 4
2-21225654-C-T c.12640G>A p.E4214K Missense 29/29 - 3
2-21225655-CCT-ATG c.12637_12639delinsCAT p.R4213H Missense 29/29 - 1
2-21225659-G-C c.12635C>G p.T4212S Missense 29/29 - 1
2-21225666-T-A c.12628A>T p.I4210L Missense 29/29 - 1
2-21225666-T-C c.12628A>G p.I4210V Missense 29/29 - 1
2-21225666-T-G c.12628A>C p.I4210L Missense 29/29 - 1
2-21225667-C-T c.12627G>A p.G4209= Synonymous 29/29 - 1
2-21225668-C-A c.12626G>T p.G4209V Missense 29/29 - 1
2-21225668-C-T c.12626G>A p.G4209E Missense 29/29 - 4
2-21225669-C-A c.12625G>T p.G4209W Missense 29/29 - 3
2-21225671-G-T c.12623C>A p.P4208H Missense 29/29 - 1
2-21225673-T-C c.12621A>G p.K4207= Synonymous 29/29 - 2
2-21225676-C-A c.12618G>T p.G4206= Synonymous 29/29 - 3
2-21225676-CC-GT c.12617_12618delinsAC p.G4206D Missense 29/29 - 1
2-21225676-C-G c.12618G>C p.G4206= Synonymous 29/29 - 3
2-21225676-C-T c.12618G>A p.G4206= Synonymous 29/29 - 6
2-21225677-C-T c.12617G>A p.G4206E Missense 29/29 - 2
2-21225679-C-T c.12615G>A p.P4205= Synonymous 29/29 - 5
2-21225680-G-A c.12614C>T p.P4205L Missense 29/29 - 7
2-21225681-G-A c.12613C>T p.P4205S Missense 29/29 - 3
2-21225685-C-A c.12609G>T p.Q4203H Missense 29/29 - 1
2-21225687-G-A c.12607C>T p.Q4203* Nonsense 29/29 - 1
2-21225689-A-G c.12605T>C p.F4202S Missense 29/29 - 1
2-21225692-C-A c.12602G>T p.R4201I Missense 29/29 - 3
2-21225692-C-T c.12602G>A p.R4201K Missense 29/29 - 4
2-21225696-G-A c.12598C>T p.P4200S Missense 29/29 - 2
2-21225697-G-A c.12597C>T p.F4199= Synonymous 29/29 - 1
2-21225703-C-T c.12591G>A p.L4197= Synonymous 29/29 - 1
2-21225705-G-A c.12589C>T p.L4197= Synonymous 29/29 - 1
2-21225705-G-T c.12589C>A p.L4197M Missense 29/29 - 1
2-21225713-A-G c.12581T>C p.I4194T Missense 29/29 - 8
2-21225715-G-GA c.12578dup p.I4194Hfs*2 Frameshift 29/29 - 2
2-21225720-A-C c.12574T>G p.S4192A Missense 29/29 - 1
2-21225721-G-C c.12573C>G p.D4191E Missense 29/29 - 1
2-21225721-G-T c.12573C>A p.D4191E Missense 29/29 - 1
2-21225724-A-G c.12570T>C p.I4190= Synonymous 29/29 - 1
2-21225721-GTCAA-G c.12569_12572del p.I4190Tfs*7 Frameshift 29/29 - 1
2-21225727-C-T c.12567G>A p.L4189= Synonymous 29/29 - 1
2-21225731-T-C c.12563A>G p.H4188R Missense 29/29 - 1
2-21225736-G-A c.12558C>T p.V4186= Synonymous 29/29 - 1
2-21225736-G-C c.12558C>G p.V4186= Synonymous 29/29 - 2
2-21225736-G-T c.12558C>A p.V4186= Synonymous 29/29 - 1
2-21225741-T-C c.12553A>G p.K4185E Missense 29/29 - 1
2-21225742-C-A c.12552G>T p.M4184I Missense 29/29 - 1
2-21225742-C-G c.12552G>C p.M4184I Missense 29/29 - 1
2-21225742-C-T c.12552G>A p.M4184I Missense 29/29 - 2
2-21225743-A-C c.12551T>G p.M4184R Missense 29/29 - 1
2-21225746-T-C c.12548A>G p.H4183R Missense 29/29 - 1
2-21225747-G-T c.12547C>A p.H4183N Missense 29/29 - 1
2-21225748-G-C c.12546C>G p.F4182L Missense 29/29 - 2
2-21225751-T-C c.12543A>G p.E4181= Synonymous 29/29 - 1
2-21225751-T-G c.12543A>C p.E4181D Missense 29/29 - 1
2-21225753-C-A c.12541G>T p.E4181* Nonsense 29/29 - 59
2-21225753-C-T c.12541G>A p.E4181K Missense 29/29 - 91
2-21225756-G-T c.12538C>A p.Q4180K Missense 29/29 - 1
2-21225762-C-T c.12532G>A p.V4178I Missense 29/29 - 1
2-21225764-C-T c.12530G>A p.R4177Q Missense 29/29 - 2
2-21225763-T-A c.12531A>T p.R4177= Synonymous 29/29 - 3
2-21225763-T-C c.12531A>G p.R4177= Synonymous 29/29 - 4
2-21225763-T-G c.12531A>C p.R4177= Synonymous 29/29 - 3
2-21225765-G-A c.12529C>T p.R4177* Nonsense 29/29 - 4
2-21225765-G-T c.12529C>A p.R4177= Synonymous 29/29 - 3
2-21225766-T-C c.12528A>G p.V4176= Synonymous 29/29 - 1
2-21225768-C-T c.12526G>A p.V4176I Missense 29/29 - 8
2-21225774-C-T c.12520G>A p.G4174S Missense 29/29 - 3
2-21225783-C-T c.12511G>A p.V4171M Missense 29/29 - 1
2-21225784-G-A c.12510C>T p.N4170= Synonymous 29/29 - 1
2-21225788-T-A c.12506A>T p.D4169V Missense 29/29 - 3
2-21225789-C-T c.12505G>A p.D4169N Missense 29/29 - 2
2-21225790-C-T c.12504G>A p.K4168= Synonymous 29/29 - 1
2-21225793-G-C c.12501C>G p.L4167= Synonymous 29/29 - 1
2-21225795-G-A c.12499C>T p.L4167F Missense 29/29 - 1
2-21225795-G-T c.12499C>A p.L4167I Missense 29/29 - 2
2-21225797-C-T c.12497G>A p.G4166E Missense 29/29 - 1
2-21225799-C-A c.12495G>T p.Q4165H Missense 29/29 - 2
2-21225799-C-G c.12495G>C p.Q4165H Missense 29/29 - 2
2-21225802-G-A c.12492C>T p.F4164= Synonymous 29/29 - 5
2-21225803-A-G c.12491T>C p.F4164S Missense 29/29 - 3
2-21225806-C-A c.12488G>T p.S4163I Missense 29/29 - 1
2-21225806-C-T c.12488G>A p.S4163N Missense 29/29 - 1
2-21225809-G-A c.12485C>T p.A4162V Missense 29/29 - 2
2-21225815-C-T c.12479G>A p.G4160D Missense 29/29 - 1
2-21225816-C-G c.12478G>C p.G4160R Missense 29/29 - 1
2-21225819-C-T c.12475G>A p.E4159K Missense 29/29 - 3
2-21225822-G-A c.12472C>T p.Q4158* Nonsense 29/29 - 2
2-21225822-G-C c.12472C>G p.Q4158E Missense 29/29 - 1
2-21225822-G-T c.12472C>A p.Q4158K Missense 29/29 - 1
2-21225831-G-GTACCA c.12462_12463insTGGTA p.L4155Wfs*4 Frameshift 29/29 - 1
2-21225833-T-C c.12461A>G p.E4154G Missense 29/29 - 1
2-21225834-C-A c.12460G>T p.E4154* Nonsense 29/29 - 2
2-21225834-C-T c.12460G>A p.E4154K Missense 29/29 - 8
2-21225835-C-T c.12459G>A p.Q4153= Synonymous 29/29 - 2
2-21225837-G-A c.12457C>T p.Q4153* Nonsense 29/29 - 1
2-21225837-G-T c.12457C>A p.Q4153K Missense 29/29 - 1
2-21225839-T-A c.12455A>T p.Y4152F Missense 29/29 - 1
2-21225839-T-G c.12455A>C p.Y4152S Missense 29/29 - 2
2-21225842-A-G c.12452T>C p.L4151P Missense 29/29 - 5
2-21225849-G-A c.12445C>T p.Q4149* Nonsense 29/29 - 2
2-21225851-G-T c.12443C>A p.A4148D Missense 29/29 - 2
2-21225858-C-T c.12436G>A p.D4146N Missense 29/29 - 3
2-21225859-C-T c.12435G>A p.K4145= Synonymous 29/29 - 3
2-21225862-C-T c.12432G>A p.W4144* Nonsense 29/29 - 2
2-21225864-A-G c.12430T>C p.W4144R Missense 29/29 - 2
2-21225865-C-A c.12429G>T p.E4143D Missense 29/29 - 1
2-21225865-C-T c.12429G>A p.E4143= Synonymous 29/29 - 3
2-21225871-G-C c.12423C>G p.Y4141* Nonsense 29/29 - 1
2-21225871-G-T c.12423C>A p.Y4141* Nonsense 29/29 - 1
2-21225876-T-C c.12418A>G p.T4140A Missense 29/29 - 1
2-21225878-C-A c.12416G>T p.G4139V Missense 29/29 - 1
2-21225885-T-G c.12409A>C p.T4137P Missense 29/29 - 2
2-21225889-A-G c.12405T>C p.S4135= Synonymous 29/29 - 1
2-21225897-C-A c.12397G>T p.A4133S Missense 29/29 - 1
2-21225897-C-G c.12397G>C p.A4133P Missense 29/29 - 2
2-21225901-C-T c.12393G>A p.Q4131= Synonymous 29/29 - 1
2-21225905-A-C c.12389T>G p.F4130C Missense 29/29 - 4
2-21225904-G-C c.12390C>G p.F4130L Missense 29/29 - 1
2-21225904-G-T c.12390C>A p.F4130L Missense 29/29 - 1
2-21225906-A-G c.12388T>C p.F4130L Missense 29/29 - 1
2-21225907-C-A c.12387G>T p.R4129S Missense 29/29 - 1
2-21225910-C-A c.12384G>T p.V4128= Synonymous 29/29 - 1
2-21225910-C-G c.12384G>C p.V4128= Synonymous 29/29 - 1
2-21225910-C-T c.12384G>A p.V4128= Synonymous 29/29 - 2
2-21225912-C-A c.12382G>T p.V4128L Missense 29/29 - 5
2-21225912-C-G c.12382G>C p.V4128L Missense 29/29 - 5
2-21225912-C-T c.12382G>A p.V4128M Missense 29/29 - 25
2-21225913-G-A c.12381C>T p.D4127= Synonymous 29/29 - 3
2-21225915-C-T c.12379G>A p.D4127N Missense 29/29 - 6
2-21225916-G-A c.12378C>T p.I4126= Synonymous 29/29 - 6
2-21225916-G-T c.12378C>A p.I4126= Synonymous 29/29 - 3
2-21225920-T-A c.12374A>T p.D4125V Missense 29/29 - 1
2-21225921-C-A c.12373G>T p.D4125Y Missense 29/29 - 1
2-21225921-C-T c.12373G>A p.D4125N Missense 29/29 - 2
2-21225924-C-T c.12370G>A p.D4124N Missense 29/29 - 1
2-21225926-A-G c.12368T>C p.I4123T Missense 29/29 - 1
2-21225928-T-A c.12366A>T p.Q4122H Missense 29/29 - 1
2-21225928-T-G c.12366A>C p.Q4122H Missense 29/29 - 1
2-21225930-G-A c.12364C>T p.Q4122* Nonsense 29/29 - 1
2-21225932-C-T c.12362G>A p.R4121K Missense 29/29 - 1
2-21225933-T-C c.12361A>G p.R4121G Missense 29/29 - 1
2-21225936-T-A c.12358A>T p.I4120F Missense 29/29 - 2
2-21225938-G-A c.12356C>T p.A4119V Missense 29/29 - 2
2-21225938-G-T c.12356C>A p.A4119D Missense 29/29 - 1
2-21225939-C-A c.12355G>T p.A4119S Missense 29/29 - 1
2-21225942-C-T c.12352G>A p.G4118R Missense 29/29 - 2
2-21225943-T-C c.12351A>G p.Q4117= Synonymous 29/29 - 1
2-21225942-CT-C c.12351del p.A4119Pfs*10 Frameshift 29/29 - 1
2-21225946-A-G c.12348T>C p.Y4116= Synonymous 29/29 - 2
2-21225951-C-T c.12343G>A p.V4115I Missense 29/29 - 1
2-21225959-G-T c.12335C>A p.A4112D Missense 29/29 - 3
2-21225954-ACTCAGCATTGTTCTGCAGATTTCTT-A c.12315_12339del p.R4105Sfs*16 Frameshift 29/29 - 3
2-21225962-T-C c.12332A>G p.N4111S Missense 29/29 - 1
2-21225963-T-C c.12331A>G p.N4111D Missense 29/29 - 1
2-21225970-C-A c.12324G>T p.L4108= Synonymous 29/29 - 1
2-21225970-C-G c.12324G>C p.L4108= Synonymous 29/29 - 1
2-21225970-C-T c.12324G>A p.L4108= Synonymous 29/29 - 1
2-21225972-G-A c.12322C>T p.L4108= Synonymous 29/29 - 1
2-21225972-G-C c.12322C>G p.L4108V Missense 29/29 - 1
2-21225976-T-C c.12318A>G p.R4106= Synonymous 29/29 - 1
2-21225977-C-T c.12317G>A p.R4106K Missense 29/29 - 5
2-21225978-T-C c.12316A>G p.R4106G Missense 29/29 - 1
2-21225979-T-C c.12315A>G p.R4105= Synonymous 29/29 - 1
2-21225981-T-G c.12313A>C p.R4105= Synonymous 29/29 - 1
2-21225980-C-T c.12314G>A p.R4105K Missense 29/29 - 2
2-21225981-T-TA c.12312_12313insT p.R4105* Nonsense 29/29 - 1
2-21225982-C-T c.12312G>A p.L4104= Synonymous 29/29 - 1
2-21225984-G-T c.12310C>A p.L4104M Missense 29/29 - 3
2-21225985-C-G c.12309G>C p.K4103N Missense 29/29 - 1
2-21225985-C-T c.12309G>A p.K4103= Synonymous 29/29 - 1
2-21226005-G-A c.12289C>T p.L4097= Synonymous 29/29 - 1
2-21226007-G-A c.12287C>T p.T4096I Missense 29/29 - 1
2-21226009-G-A c.12285C>T p.L4095= Synonymous 29/29 - 3
2-21226009-G-C c.12285C>G p.L4095= Synonymous 29/29 - 1
2-21226009-G-T c.12285C>A p.L4095= Synonymous 29/29 - 1
2-21226011-G-A c.12283C>T p.L4095F Missense 29/29 - 1
2-21226014-C-T c.12280G>A p.G4094R Missense 29/29 - 1
2-21226018-G-C c.12276C>G p.H4092Q Missense 29/29 - 3
2-21226018-G-T c.12276C>A p.H4092Q Missense 29/29 - 4
2-21226020-G-A c.12274C>T p.H4092Y Missense 29/29 - 2
2-21226023-C-A c.12271G>T p.E4091* Nonsense 29/29 - 2
2-21226024-C-A c.12270G>T p.W4090C Missense 29/29 - 2
2-21226024-C-G c.12270G>C p.W4090C Missense 29/29 - 2
2-21226025-C-A c.12269G>T p.W4090L Missense 29/29 - 1
2-21226029-G-A c.12265C>T p.H4089Y Missense 29/29 - 1
2-21226030-G-A c.12264C>T p.Y4088= Synonymous 29/29 - 1
2-21226033-C-A c.12261G>T p.K4087N Missense 29/29 - 4
2-21226033-C-G c.12261G>C p.K4087N Missense 29/29 - 3
2-21226034-T-A c.12260A>T p.K4087M Missense 29/29 - 1
2-21226035-T-G c.12259A>C p.K4087Q Missense 29/29 - 1
2-21226036-G-C c.12258C>G p.N4086K Missense 29/29 - 2
2-21226039-G-T c.12255C>A p.V4085= Synonymous 29/29 - 1
2-21226041-C-T c.12253G>A p.V4085I Missense 29/29 - 1
2-21226042-A-G c.12252T>C p.Y4084= Synonymous 29/29 - 3
2-21226045-A-C c.12249T>G p.D4083E Missense 29/29 - 1
2-21226045-A-T c.12249T>A p.D4083E Missense 29/29 - 1
2-21226047-C-T c.12247G>A p.D4083N Missense 29/29 - 2
2-21226052-A-T c.12242T>A p.L4081H Missense 29/29 - 1
2-21226053-G-A c.12241C>T p.L4081F Missense 29/29 - 2
2-21226053-G-T c.12241C>A p.L4081I Missense 29/29 - 1
2-21226054-G-A c.12240C>T p.V4080= Synonymous 29/29 - 2
2-21226054-G-C c.12240C>G p.V4080= Synonymous 29/29 - 1
2-21226054-G-T c.12240C>A p.V4080= Synonymous 29/29 - 1
2-21226055-A-T c.12239T>A p.V4080D Missense 29/29 - 1
2-21226056-C-A c.12238G>T p.V4080F Missense 29/29 - 1
2-21226056-C-T c.12238G>A p.V4080I Missense 29/29 - 3
2-21226057-C-A c.12237G>T p.G4079= Synonymous 29/29 - 1
2-21226057-C-T c.12237G>A p.G4079= Synonymous 29/29 - 1
2-21226058-C-T c.12236G>A p.G4079E Missense 29/29 - 3
2-21226064-G-A c.12230C>T p.A4077V Missense 29/29 - 2
2-21226070-G-A c.12224C>T p.P4075L Missense 29/29 - 2
2-21226070-G-C c.12224C>G p.P4075R Missense 29/29 - 1
2-21226071-G-A c.12223C>T p.P4075S Missense 29/29 - 1
2-21226080-C-G c.12214G>C p.D4072H Missense 29/29 - 1
2-21226082-T-C c.12212A>G p.K4071R Missense 29/29 - 1
2-21226083-T-C c.12211A>G p.K4071E Missense 29/29 - 1
2-21226084-C-T c.12210G>A p.L4070= Synonymous 29/29 - 3
2-21226091-G-C c.12203C>G p.T4068S Missense 29/29 - 1
2-21226092-GTT-G c.12201_12202del p.T4068Lfs*15 Frameshift 29/29 - 1
2-21226092-T-G c.12202A>C p.T4068P Missense 29/29 - 1
2-21226096-GCA-G c.12197_12198del p.L4066Sfs*17 Frameshift 29/29 - 1
2-21226099-G-GTA c.12194_12195insTA p.L4066Tfs*3 Frameshift 29/29 - 1
2-21226101-C-T c.12193G>A p.G4065S Missense 29/29 - 1
2-21226102-A-AAGAGCAC c.12191_12192insGTGCTCT p.G4065Cfs*21 Frameshift 29/29 - 1
2-21226110-C-G c.12184G>C p.A4062P Missense 29/29 - 1
2-21226111-C-G c.12183G>C p.E4061D Missense 29/29 - 1
2-21226112-T-A c.12182A>T p.E4061V Missense 29/29 - 2
2-21226113-C-A c.12181G>T p.E4061* Nonsense 29/29 - 1
2-21226113-C-G c.12181G>C p.E4061Q Missense 29/29 - 1
2-21226113-C-T c.12181G>A p.E4061K Missense 29/29 - 3
2-21226113-TC-T c.12181del p.E4061Rfs*7 Frameshift 29/29 - 3
2-21226114-T-A c.12180A>T p.E4060D Missense 29/29 - 2
2-21226114-T-G c.12180A>C p.E4060D Missense 29/29 - 2
2-21226119-C-T c.12175G>A p.E4059K Missense 29/29 - 4
2-21226124-T-A c.12170A>T p.N4057I Missense 29/29 - 2
2-21226124-T-C c.12170A>G p.N4057S Missense 29/29 - 1
2-21226137-G-A c.12157C>T p.Q4053* Nonsense 29/29 - 1
2-21226137-G-T c.12157C>A p.Q4053K Missense 29/29 - 1
2-21226145-T-G c.12149A>C p.E4050A Missense 29/29 - 1
2-21226146-C-A c.12148G>T p.E4050* Nonsense 29/29 - 1
2-21226146-C-T c.12148G>A p.E4050K Missense 29/29 - 1
2-21226147-A-C c.12147T>G p.D4049E Missense 29/29 - 2
2-21226147-A-G c.12147T>C p.D4049= Synonymous 29/29 - 4
2-21226147-A-T c.12147T>A p.D4049E Missense 29/29 - 5
2-21226148-T-C c.12146A>G p.D4049G Missense 29/29 - 1
2-21226149-C-A c.12145G>T p.D4049Y Missense 29/29 - 1
2-21226149-C-G c.12145G>C p.D4049H Missense 29/29 - 4
2-21226150-A-C c.12144T>G p.S4048= Synonymous 29/29 - 1
2-21226150-A-G c.12144T>C p.S4048= Synonymous 29/29 - 1
2-21226150-A-T c.12144T>A p.S4048= Synonymous 29/29 - 1
2-21226155-C-T c.12139G>A p.E4047K Missense 29/29 - 1
2-21226157-C-A c.12137G>T p.R4046L Missense 29/29 - 2
2-21226157-C-T c.12137G>A p.R4046Q Missense 29/29 - 5
2-21226158-G-A c.12136C>T p.R4046W Missense 29/29 - 6
2-21226159-G-A c.12135C>T p.V4045= Synonymous 29/29 - 2
2-21226161-C-T c.12133G>A p.V4045I Missense 29/29 - 1
2-21226162-C-T c.12132G>A p.R4044= Synonymous 29/29 - 2
2-21226164-T-G c.12130A>C p.R4044= Synonymous 29/29 - 1
2-21226163-C-A c.12131G>T p.R4044M Missense 29/29 - 1
2-21226170-C-A c.12124G>T p.E4042* Nonsense 29/29 - 1
2-21226172-G-A c.12122C>T p.T4041I Missense 29/29 - 2
2-21226175-T-C c.12119A>G p.K4040R Missense 29/29 - 2
2-21226177-G-A c.12117C>T p.F4039= Synonymous 29/29 - 1
2-21226178-A-C c.12116T>G p.F4039C Missense 29/29 - 2
2-21226177-G-C c.12117C>G p.F4039L Missense 29/29 - 3
2-21226177-G-T c.12117C>A p.F4039L Missense 29/29 - 3
2-21226179-A-G c.12115T>C p.F4039L Missense 29/29 - 3
2-21226187-A-T c.12107T>A p.L4036H Missense 29/29 - 1
2-21226194-T-C c.12100A>G p.K4034E Missense 29/29 - 2
2-21226196-T-G c.12098A>C p.D4033A Missense 29/29 - 2
2-21226197-C-A c.12097G>T p.D4033Y Missense 29/29 - 1
2-21226197-C-T c.12097G>A p.D4033N Missense 29/29 - 3
2-21226204-G-A c.12090C>T p.S4030= Synonymous 29/29 - 1
2-21226204-G-C c.12090C>G p.S4030= Synonymous 29/29 - 1
2-21226204-G-T c.12090C>A p.S4030= Synonymous 29/29 - 1
2-21226223-A-G c.12088-17T>C - IntronicSNV - 28/28 1
2-21226230-T-A c.12088-24A>T - IntronicSNV - 28/28 1
2-21226230-T-C c.12088-24A>G - IntronicSNV - 28/28 1
2-21226252-A-G c.12088-46T>C - IntronicSNV - 28/28 3
2-21226465-A-G c.12088-259T>C - IntronicSNV - 28/28 1
2-21226560-A-G c.12088-354T>C - IntronicSNV - 28/28 7
2-21226957-A-G c.12087+184T>C - IntronicSNV - 28/28 1
2-21227026-C-T c.12087+115G>A - IntronicSNV - 28/28 1
2-21227027-G-A c.12087+114C>T - IntronicSNV - 28/28 1
2-21227105-C-T c.12087+36G>A - IntronicSNV - 28/28 1
2-21227115-C-T c.12087+26G>A - IntronicSNV - 28/28 1
2-21227116-G-A c.12087+25C>T - IntronicSNV - 28/28 1
2-21227122-C-T c.12087+19G>A - IntronicSNV - 28/28 1
2-21227140-C-T c.12087+1G>A - IntronicSNV - 28/28 1
2-21227148-C-T c.12080G>A p.S4027N Missense 28/29 - 2
2-21227149-T-C c.12079A>G p.S4027G Missense 28/29 - 1
2-21227152-A-C c.12076T>G p.Y4026D Missense 28/29 - 2
2-21227156-G-A c.12072C>T p.F4024= Synonymous 28/29 - 3
2-21227156-G-T c.12072C>A p.F4024L Missense 28/29 - 2
2-21227156-G-C c.12072C>G p.F4024L Missense 28/29 - 1
2-21227158-A-G c.12070T>C p.F4024L Missense 28/29 - 1
2-21227160-T-C c.12068A>G p.N4023S Missense 28/29 - 2
2-21227162-C-T c.12066G>A p.W4022* Nonsense 28/29 - 1
2-21227163-C-T c.12065G>A p.W4022* Nonsense 28/29 - 2
2-21227166-T-C c.12062A>G p.K4021R Missense 28/29 - 1
2-21227169-G-A c.12059C>T p.S4020F Missense 28/29 - 2
2-21227170-A-G c.12058T>C p.S4020P Missense 28/29 - 1
2-21227175-T-A c.12053A>T p.D4018V Missense 28/29 - 1
2-21227176-C-T c.12052G>A p.D4018N Missense 28/29 - 6
2-21227177-G-A c.12051C>T p.D4017= Synonymous 28/29 - 5
2-21227177-G-T c.12051C>A p.D4017E Missense 28/29 - 1
2-21227179-C-T c.12049G>A p.D4017N Missense 28/29 - 1
2-21227185-C-T c.12043G>A p.E4015K Missense 28/29 - 2
2-21227188-C-T c.12040G>A p.D4014N Missense 28/29 - 10
2-21227189-C-T c.12039G>A p.M4013I Missense 28/29 - 3
2-21227192-A-C c.12036T>G p.D4012E Missense 28/29 - 1
2-21227192-A-T c.12036T>A p.D4012E Missense 28/29 - 1
2-21227194-C-T c.12034G>A p.D4012N Missense 28/29 - 3
2-21227199-C-A c.12029G>T p.G4010V Missense 28/29 - 1
2-21227199-C-T c.12029G>A p.G4010D Missense 28/29 - 4
2-21227201-C-T c.12027G>A p.V4009= Synonymous 28/29 - 1
2-21227203-C-T c.12025G>A p.V4009M Missense 28/29 - 5
2-21227206-T-C c.12022A>G p.T4008A Missense 28/29 - 1
2-21227207-G-T c.12021C>A p.G4007= Synonymous 28/29 - 2
2-21227212-C-A c.12016G>T p.V4006L Missense 28/29 - 1
2-21227212-C-G c.12016G>C p.V4006L Missense 28/29 - 1
2-21227212-C-T c.12016G>A p.V4006I Missense 28/29 - 8
2-21227213-G-A c.12015C>T p.A4005= Synonymous 28/29 - 3
2-21227213-G-C c.12015C>G p.A4005= Synonymous 28/29 - 2
2-21227213-G-T c.12015C>A p.A4005= Synonymous 28/29 - 2
2-21227217-G-A c.12011C>T p.P4004L Missense 28/29 - 2
2-21227217-G-T c.12011C>A p.P4004Q Missense 28/29 - 3
2-21227218-G-C c.12010C>G p.P4004A Missense 28/29 - 2
2-21227219-G-A c.12009C>T p.S4003= Synonymous 28/29 - 1
2-21227221-A-G c.12007T>C p.S4003P Missense 28/29 - 2
2-21227223-G-A c.12005C>T p.A4002V Missense 28/29 - 2
2-21227223-G-T c.12005C>A p.A4002D Missense 28/29 - 2
2-21227224-C-A c.12004G>T p.A4002S Missense 28/29 - 1
2-21227224-C-T c.12004G>A p.A4002T Missense 28/29 - 1
2-21227226-G-T c.12002C>A p.A4001E Missense 28/29 - 2
2-21227229-G-A c.11999C>T p.S4000L Missense 28/29 - 1
2-21227235-G-A c.11993C>T p.S3998F Missense 28/29 - 1
2-21227239-T-C c.11989A>G p.I3997V Missense 28/29 - 2
2-21227239-T-G c.11989A>C p.I3997L Missense 28/29 - 1
2-21227241-C-T c.11987G>A p.G3996D Missense 28/29 - 1
2-21227251-C-A c.11977G>T p.D3993Y Missense 28/29 - 1
2-21227255-C-T c.11973G>A p.Q3991= Synonymous 28/29 - 1
2-21227259-T-C c.11969A>G p.Y3990C Missense 28/29 - 1
2-21227260-A-G c.11968T>C p.Y3990H Missense 28/29 - 2
2-21227262-C-T c.11966G>A p.R3989H Missense 28/29 - 3
2-21227263-G-A c.11965C>T p.R3989C Missense 28/29 - 3
2-21227263-G-T c.11965C>A p.R3989S Missense 28/29 - 1
2-21227267-A-G c.11961T>C p.H3987= Synonymous 28/29 - 1
2-21227269-G-A c.11959C>T p.H3987Y Missense 28/29 - 2
2-21227271-A-G c.11957T>C p.L3986P Missense 28/29 - 1
2-21227275-C-G c.11953G>C p.D3985H Missense 28/29 - 1
2-21227275-C-T c.11953G>A p.D3985N Missense 28/29 - 4
2-21227276-G-A c.11952C>T p.T3984= Synonymous 28/29 - 2
2-21227276-G-C c.11952C>G p.T3984= Synonymous 28/29 - 1
2-21227276-G-T c.11952C>A p.T3984= Synonymous 28/29 - 1
2-21227277-G-A c.11951C>T p.T3984I Missense 28/29 - 2
2-21227282-C-A c.11946G>T p.A3982= Synonymous 28/29 - 2
2-21227282-C-G c.11946G>C p.A3982= Synonymous 28/29 - 2
2-21227282-C-T c.11946G>A p.A3982= Synonymous 28/29 - 3
2-21227283-G-A c.11945C>T p.A3982V Missense 28/29 - 4
2-21227283-G-T c.11945C>A p.A3982E Missense 28/29 - 1
2-21227294-G-A c.11934C>T p.I3978= Synonymous 28/29 - 4
2-21227295-A-G c.11933T>C p.I3978T Missense 28/29 - 1
2-21227299-T-C c.11929A>G p.N3977D Missense 28/29 - 1
2-21227299-T-G c.11929A>C p.N3977H Missense 28/29 - 5
2-21227300-TG-T c.11928del p.N3977Ifs*30 Frameshift 28/29 - 1
2-21227302-G-T c.11926C>A p.L3976I Missense 28/29 - 2
2-21227305-G-A c.11923C>T p.H3975Y Missense 28/29 - 1
2-21227305-G-T c.11923C>A p.H3975N Missense 28/29 - 2
2-21227306-C-T c.11922G>A p.A3974= Synonymous 28/29 - 1
2-21227307-G-A c.11921C>T p.A3974V Missense 28/29 - 3
2-21227311-T-A c.11917A>T p.K3973* Nonsense 28/29 - 1
2-21227313-C-T c.11915G>A p.G3972E Missense 28/29 - 8
2-21227317-C-T c.11911G>A p.E3971K Missense 28/29 - 3
2-21227319-C-A c.11909G>T p.W3970L Missense 28/29 - 1
2-21227323-C-A c.11905G>T p.E3969* Nonsense 28/29 - 1
2-21227323-C-T c.11905G>A p.E3969K Missense 28/29 - 2
2-21227324-C-A c.11904G>T p.Q3968H Missense 28/29 - 1
2-21227324-C-T c.11904G>A p.Q3968= Synonymous 28/29 - 2
2-21227325-C-G c.11904-1G>C - IntronicSNV - 27/28 3
2-21227325-C-T c.11904-1G>A - IntronicSNV - 27/28 3
2-21227331-G-A c.11904-7C>T - IntronicSNV - 27/28 1
2-21227361-G-C c.11904-37C>G - IntronicSNV - 27/28 1
2-21227383-C-G c.11903+50G>C - IntronicSNV - 27/28 11
2-21227388-A-C c.11903+45T>G - IntronicSNV - 27/28 1
2-21227430-T-A c.11903+3A>T - IntronicSNV - 27/28 1
2-21227430-T-C c.11903+3A>G - IntronicSNV - 27/28 1
2-21227432-C-A c.11903+1G>T - IntronicSNV - 27/28 2
2-21227433-T-A c.11903A>T p.Q3968L Missense 27/29 - 1
2-21227433-T-C c.11903A>G p.Q3968R Missense 27/29 - 2
2-21227433-T-G c.11903A>C p.Q3968P Missense 27/29 - 1
2-21227436-A-G c.11900T>C p.L3967P Missense 27/29 - 1
2-21227438-T-A c.11898A>T p.G3966= Synonymous 27/29 - 2
2-21227438-T-C c.11898A>G p.G3966= Synonymous 27/29 - 2
2-21227438-T-G c.11898A>C p.G3966= Synonymous 27/29 - 2
2-21227440-C-G c.11896G>C p.G3966R Missense 27/29 - 2
2-21227440-C-T c.11896G>A p.G3966R Missense 27/29 - 2
2-21227444-A-G c.11892T>C p.Y3964= Synonymous 27/29 - 1
2-21227445-T-A c.11891A>T p.Y3964F Missense 27/29 - 3
2-21227445-T-C c.11891A>G p.Y3964C Missense 27/29 - 2
2-21227451-C-G c.11885G>C p.G3962A Missense 27/29 - 1
2-21227459-T-G c.11877A>C p.E3959D Missense 27/29 - 1
2-21227461-C-A c.11875G>T p.E3959* Nonsense 27/29 - 1
2-21227461-C-T c.11875G>A p.E3959K Missense 27/29 - 1
2-21227463-T-C c.11873A>G p.Y3958C Missense 27/29 - 3
2-21227463-T-G c.11873A>C p.Y3958S Missense 27/29 - 2
2-21227468-T-G c.11868A>C p.A3956= Synonymous 27/29 - 1
2-21227474-G-A c.11862C>T p.F3954= Synonymous 27/29 - 2
2-21227476-A-T c.11860T>A p.F3954I Missense 27/29 - 1
2-21227481-C-T c.11855G>A p.R3952H Missense 27/29 - 2
2-21227482-G-A c.11854C>T p.R3952C Missense 27/29 - 1
2-21227483-G-A c.11853C>T p.H3951= Synonymous 27/29 - 1
2-21227488-C-A c.11848G>T p.A3950S Missense 27/29 - 1
2-21227490-A-G c.11846T>C p.F3949S Missense 27/29 - 1
2-21227489-A-C c.11847T>G p.F3949L Missense 27/29 - 1
2-21227489-A-T c.11847T>A p.F3949L Missense 27/29 - 1
2-21227491-A-G c.11845T>C p.F3949L Missense 27/29 - 2
2-21227493-G-A c.11843C>T p.T3948I Missense 27/29 - 1
2-21227496-C-A c.11840G>T p.G3947V Missense 27/29 - 1
2-21227496-C-T c.11840G>A p.G3947E Missense 27/29 - 2
2-21227503-T-C c.11833A>G p.T3945A Missense 27/29 - 11
2-21227505-T-C c.11831A>G p.K3944R Missense 27/29 - 2
2-21227505-T-G c.11831A>C p.K3944T Missense 27/29 - 1
2-21227508-G-C c.11828C>G p.S3943C Missense 27/29 - 2
2-21227512-C-T c.11824G>A p.A3942T Missense 27/29 - 7
2-21227512-CTAACG-C c.11819_11823del p.T3940Sfs*3 Frameshift 27/29 - 1
2-21227517-G-A c.11819C>T p.T3940M Missense 27/29 - 7
2-21227517-G-T c.11819C>A p.T3940K Missense 27/29 - 1
2-21227520-C-T c.11816G>A p.G3939D Missense 27/29 - 2
2-21227522-A-C c.11814T>G p.D3938E Missense 27/29 - 1
2-21227522-A-T c.11814T>A p.D3938E Missense 27/29 - 1
2-21227522-ATC-A c.11812_11813del p.D3938Wfs*6 Frameshift 27/29 - 1
2-21227524-C-T c.11812G>A p.D3938N Missense 27/29 - 2
2-21227527-C-T c.11809G>A p.E3937K Missense 27/29 - 10
2-21227528-G-A c.11808C>T p.I3936= Synonymous 27/29 - 2
2-21227529-A-G c.11807T>C p.I3936T Missense 27/29 - 1
2-21227532-TTG-T c.11802_11803del p.H3934Qfs*10 Frameshift 27/29 - 1
2-21227541-C-A c.11795G>T p.G3932V Missense 27/29 - 1
2-21227541-C-T c.11795G>A p.G3932E Missense 27/29 - 2
2-21227543-C-A c.11793G>T p.L3931F Missense 27/29 - 1
2-21227560-G-T c.11789-13C>A - IntronicSNV - 26/28 1
2-21227594-C-A c.11789-47G>T - IntronicSNV - 26/28 1
2-21227594-C-T c.11789-47G>A - IntronicSNV - 26/28 1
2-21227755-G-A c.11788+197C>T - IntronicSNV - 26/28 1
2-21227770-T-C c.11788+182A>G - IntronicSNV - 26/28 1
2-21227777-A-G c.11788+175T>C - IntronicSNV - 26/28 1
2-21227802-G-A c.11788+150C>T - IntronicSNV - 26/28 2
2-21227819-A-G c.11788+133T>C - IntronicSNV - 26/28 1
2-21227851-G-C c.11788+101C>G - IntronicSNV - 26/28 2
2-21227875-C-A c.11788+77G>T - IntronicSNV - 26/28 1
2-21227894-C-G c.11788+58G>C - IntronicSNV - 26/28 1
2-21227935-G-A c.11788+17C>T - IntronicSNV - 26/28 1
2-21227936-G-A c.11788+16C>T - IntronicSNV - 26/28 4
2-21227951-C-A c.11788+1G>T - IntronicSNV - 26/28 1
2-21227954-T-A c.11786A>T p.N3929I Missense 26/29 - 1
2-21227954-T-C c.11786A>G p.N3929S Missense 26/29 - 1
2-21227957-A-T c.11783T>A p.L3928Q Missense 26/29 - 1
2-21227958-G-A c.11782C>T p.L3928= Synonymous 26/29 - 1
2-21227958-G-T c.11782C>A p.L3928I Missense 26/29 - 1
2-21227959-T-C c.11781A>G p.E3927= Synonymous 26/29 - 4
2-21227961-C-T c.11779G>A p.E3927K Missense 26/29 - 7
2-21227963-T-C c.11777A>G p.Y3926C Missense 26/29 - 3
2-21227967-C-T c.11773G>A p.E3925K Missense 26/29 - 2
2-21227970-G-GGT c.11769_11770insAC p.L3924Tfs*2 Frameshift 26/29 - 1
2-21227971-G-A c.11769C>T p.F3923= Synonymous 26/29 - 2
2-21227973-A-G c.11767T>C p.F3923L Missense 26/29 - 1
2-21227975-T-G c.11765A>C p.Q3922P Missense 26/29 - 1
2-21227976-G-A c.11764C>T p.Q3922* Nonsense 26/29 - 1
2-21227976-G-C c.11764C>G p.Q3922E Missense 26/29 - 2
2-21227979-C-A c.11761G>T p.V3921L Missense 26/29 - 1
2-21227979-C-G c.11761G>C p.V3921L Missense 26/29 - 1
2-21227979-C-T c.11761G>A p.V3921I Missense 26/29 - 9
2-21227980-G-C c.11760C>G p.T3920= Synonymous 26/29 - 1
2-21227980-G-T c.11760C>A p.T3920= Synonymous 26/29 - 1
2-21227981-G-A c.11759C>T p.T3920I Missense 26/29 - 1
2-21227990-C-T c.11750G>A p.C3917Y Missense 26/29 - 1
2-21227991-A-G c.11749T>C p.C3917R Missense 26/29 - 1
2-21227995-G-A c.11745C>T p.S3915= Synonymous 26/29 - 1
2-21227996-G-A c.11744C>T p.S3915F Missense 26/29 - 5
2-21227996-G-C c.11744C>G p.S3915C Missense 26/29 - 3
2-21228000-C-G c.11740G>C p.D3914H Missense 26/29 - 2
2-21228012-C-A c.11728G>T p.E3910* Nonsense 26/29 - 1
2-21228012-C-T c.11728G>A p.E3910K Missense 26/29 - 3
2-21228014-A-G c.11726T>C p.V3909A Missense 26/29 - 2
2-21228020-T-C c.11720A>G p.D3907G Missense 26/29 - 3
2-21228021-C-T c.11719G>A p.D3907N Missense 26/29 - 3
2-21228026-T-C c.11714A>G p.K3905R Missense 26/29 - 1
2-21228028-TG-T c.11712del p.N3904Kfs*21 Frameshift 26/29 - 3
2-21228034-C-T c.11706G>A p.L3902= Synonymous 26/29 - 1
2-21228041-G-A c.11699C>T p.A3900V Missense 26/29 - 1
2-21228042-C-T c.11698G>A p.A3900T Missense 26/29 - 1
2-21228042-GCAC-G c.11696_11698del p.S3899_A3900delinsT MultiAAMissense 26/29 - 1
2-21228043-A-T c.11697T>A p.S3899R Missense 26/29 - 1
2-21228046-C-A c.11694G>T p.W3898C Missense 26/29 - 1
2-21228049-AG-CT c.11690_11691inv p.T3897K Missense 26/29 - 1
2-21228050-G-A c.11690C>T p.T3897I Missense 26/29 - 3
2-21228050-G-T c.11690C>A p.T3897N Missense 26/29 - 1
2-21228053-G-A c.11687C>T p.A3896V Missense 26/29 - 8
2-21228055-ATT-TTA c.11683_11685delinsTAA p.N3895* Nonsense 26/29 - 1
2-21228059-T-A c.11681A>T p.Y3894F Missense 26/29 - 2
2-21228059-T-C c.11681A>G p.Y3894C Missense 26/29 - 1
2-21228062-A-G c.11678T>C p.V3893A Missense 26/29 - 1
2-21228063-C-G c.11677G>C p.V3893L Missense 26/29 - 1
2-21228063-C-T c.11677G>A p.V3893M Missense 26/29 - 2
2-21228064-G-T c.11676C>A p.P3892= Synonymous 26/29 - 1
2-21228065-G-A c.11675C>T p.P3892L Missense 26/29 - 1
2-21228066-G-A c.11674C>T p.P3892S Missense 26/29 - 2
2-21228068-G-C c.11672C>G p.S3891C Missense 26/29 - 1
2-21228072-C-A c.11668G>T p.D3890Y Missense 26/29 - 1
2-21228072-C-G c.11668G>C p.D3890H Missense 26/29 - 2
2-21228078-C-G c.11662G>C p.E3888Q Missense 26/29 - 1
2-21228078-C-T c.11662G>A p.E3888K Missense 26/29 - 1
2-21228077-TCAAAGCGTG-T c.11654_11662del p.A3885_F3887del InFrameDeletion 26/29 - 1
2-21228083-C-A c.11657G>T p.R3886L Missense 26/29 - 3
2-21228083-C-T c.11657G>A p.R3886H Missense 26/29 - 2
2-21228084-G-A c.11656C>T p.R3886C Missense 26/29 - 5
2-21228086-G-A c.11654C>T p.A3885V Missense 26/29 - 4
2-21228086-GC-AG c.11653_11654delinsCT p.A3885L Missense 26/29 - 1
2-21228089-G-A c.11651C>T p.T3884I Missense 26/29 - 1
2-21228089-G-C c.11651C>G p.T3884S Missense 26/29 - 1
2-21228092-A-T c.11648T>A p.L3883Q Missense 26/29 - 2
2-21228099-G-A c.11641C>T p.Q3881* Nonsense 26/29 - 2
2-21228099-G-C c.11641C>G p.Q3881E Missense 26/29 - 1
2-21228101-A-T c.11639T>A p.F3880Y Missense 26/29 - 1
2-21228102-A-T c.11638T>A p.F3880I Missense 26/29 - 1
2-21228103-G-A c.11637C>T p.S3879= Synonymous 26/29 - 4
2-21228103-G-C c.11637C>G p.S3879= Synonymous 26/29 - 1
2-21228103-G-T c.11637C>A p.S3879= Synonymous 26/29 - 1
2-21228104-G-A c.11636C>T p.S3879F Missense 26/29 - 6
2-21228104-G-C c.11636C>G p.S3879C Missense 26/29 - 1
2-21228106-A-C c.11634T>G p.P3878= Synonymous 26/29 - 1
2-21228106-A-G c.11634T>C p.P3878= Synonymous 26/29 - 1
2-21228106-A-T c.11634T>A p.P3878= Synonymous 26/29 - 1
2-21228107-G-A c.11633C>T p.P3878L Missense 26/29 - 1
2-21228114-C-A c.11626G>T p.V3876F Missense 26/29 - 1
2-21228114-C-G c.11626G>C p.V3876L Missense 26/29 - 1
2-21228119-C-G c.11621G>C p.G3874A Missense 26/29 - 1
2-21228119-C-T c.11621G>A p.G3874E Missense 26/29 - 5
2-21228125-G-A c.11615C>T p.P3872L Missense 26/29 - 1
2-21228129-C-T c.11611G>A p.V3871I Missense 26/29 - 1
2-21228131-G-A c.11609C>T p.S3870F Missense 26/29 - 4
2-21228133-G-A c.11607C>T p.F3869= Synonymous 26/29 - 2
2-21228133-G-T c.11607C>A p.F3869L Missense 26/29 - 3
2-21228133-G-C c.11607C>G p.F3869L Missense 26/29 - 2
2-21228135-A-G c.11605T>C p.F3869L Missense 26/29 - 2
2-21228138-T-A c.11602A>T p.K3868* Nonsense 26/29 - 3
2-21228138-T-C c.11602A>G p.K3868E Missense 26/29 - 1
2-21228138-T-G c.11602A>C p.K3868Q Missense 26/29 - 1
2-21228143-G-C c.11597C>G p.S3866C Missense 26/29 - 3
2-21228144-A-G c.11596T>C p.S3866P Missense 26/29 - 1
2-21228146-G-A c.11594C>T p.P3865L Missense 26/29 - 8
2-21228147-G-A c.11593C>T p.P3865S Missense 26/29 - 4
2-21228151-C-A c.11589G>T p.E3863D Missense 26/29 - 1
2-21228151-C-T c.11589G>A p.E3863= Synonymous 26/29 - 1
2-21228155-A-G c.11585T>C p.I3862T Missense 26/29 - 3
2-21228155-A-T c.11585T>A p.I3862N Missense 26/29 - 1
2-21228160-C-A c.11580G>T p.Q3860H Missense 26/29 - 1
2-21228160-C-G c.11580G>C p.Q3860H Missense 26/29 - 1
2-21228161-T-C c.11579A>G p.Q3860R Missense 26/29 - 1
2-21228162-G-A c.11578C>T p.Q3860* Nonsense 26/29 - 1
2-21228162-G-C c.11578C>G p.Q3860E Missense 26/29 - 1
2-21228165-C-T c.11575G>A p.E3859K Missense 26/29 - 2
2-21228167-G-A c.11573C>T p.P3858L Missense 26/29 - 2
2-21228169-C-A c.11571G>T p.V3857= Synonymous 26/29 - 1
2-21228171-C-T c.11569G>A p.V3857M Missense 26/29 - 4
2-21228172-G-A c.11568C>T p.I3856= Synonymous 26/29 - 7
2-21228172-G-C c.11568C>G p.I3856M Missense 26/29 - 2
2-21228172-G-T c.11568C>A p.I3856= Synonymous 26/29 - 3
2-21228177-T-C c.11563A>G p.I3855V Missense 26/29 - 1
2-21228179-G-A c.11561C>T p.T3854I Missense 26/29 - 2
2-21228180-T-C c.11560A>G p.T3854A Missense 26/29 - 1
2-21228184-C-A c.11556G>T p.L3852F Missense 26/29 - 1
2-21228186-A-G c.11554T>C p.L3852= Synonymous 26/29 - 1
2-21228198-C-T c.11542G>A p.A3848T Missense 26/29 - 6
2-21228199-G-A c.11541C>T p.I3847= Synonymous 26/29 - 3
2-21228199-G-T c.11541C>A p.I3847= Synonymous 26/29 - 2
2-21228201-T-A c.11539A>T p.I3847F Missense 26/29 - 1
2-21228205-G-C c.11535C>G p.N3845K Missense 26/29 - 1
2-21228205-G-T c.11535C>A p.N3845K Missense 26/29 - 1
2-21228207-T-C c.11533A>G p.N3845D Missense 26/29 - 1
2-21228212-A-G c.11528T>C p.V3843A Missense 26/29 - 2
2-21228213-C-A c.11527G>T p.V3843L Missense 26/29 - 3
2-21228213-C-G c.11527G>C p.V3843L Missense 26/29 - 1
2-21228217-A-G c.11523T>C p.N3841= Synonymous 26/29 - 2
2-21228222-G-A c.11518C>T p.L3840= Synonymous 26/29 - 1
2-21228224-T-A c.11516A>T p.D3839V Missense 26/29 - 1
2-21228231-C-A c.11509G>T p.A3837S Missense 26/29 - 1
2-21228233-G-A c.11507C>T p.A3836V Missense 26/29 - 2
2-21228237-T-C c.11503A>G p.I3835V Missense 26/29 - 1
2-21228237-T-G c.11503A>C p.I3835L Missense 26/29 - 1
2-21228239-C-T c.11501G>A p.G3834D Missense 26/29 - 1
2-21228243-C-A c.11497G>T p.D3833Y Missense 26/29 - 1
2-21228245-G-A c.11495C>T p.S3832L Missense 26/29 - 1
2-21228251-C-G c.11489G>C p.S3830T Missense 26/29 - 1
2-21228255-T-C c.11485A>G p.K3829E Missense 26/29 - 1
2-21228257-G-A c.11483C>T p.P3828L Missense 26/29 - 1
2-21228262-C-A c.11478G>T p.T3826= Synonymous 26/29 - 2
2-21228262-C-G c.11478G>C p.T3826= Synonymous 26/29 - 1
2-21228262-C-T c.11478G>A p.T3826= Synonymous 26/29 - 1
2-21228263-G-A c.11477C>T p.T3826M Missense 26/29 - 20
2-21228263-G-C c.11477C>G p.T3826R Missense 26/29 - 1
2-21228263-G-T c.11477C>A p.T3826K Missense 26/29 - 3
2-21228265-G-A c.11475C>T p.F3825= Synonymous 26/29 - 1
2-21228267-A-T c.11473T>A p.F3825I Missense 26/29 - 1
2-21228270-G-A c.11470C>T p.Q3824* Nonsense 26/29 - 2
2-21228270-G-T c.11470C>A p.Q3824K Missense 26/29 - 1
2-21228278-G-A c.11462C>T p.T3821I Missense 26/29 - 2
2-21228278-G-C c.11462C>G p.T3821S Missense 26/29 - 1
2-21228278-G-T c.11462C>A p.T3821N Missense 26/29 - 1
2-21228279-T-C c.11461A>G p.T3821A Missense 26/29 - 1
2-21228297-C-A c.11443G>T p.V3815L Missense 26/29 - 1
2-21228297-C-T c.11443G>A p.V3815M Missense 26/29 - 3
2-21228298-G-A c.11442C>T p.T3814= Synonymous 26/29 - 1
2-21228299-G-A c.11441C>T p.T3814I Missense 26/29 - 1
2-21228299-G-T c.11441C>A p.T3814N Missense 26/29 - 2
2-21228305-T-A c.11435A>T p.E3812V Missense 26/29 - 2
2-21228306-C-G c.11434G>C p.E3812Q Missense 26/29 - 5
2-21228308-A-G c.11432T>C p.F3811S Missense 26/29 - 3
2-21228306-C-CA c.11433dup p.E3812* Nonsense 26/29 - 2
2-21228313-G-A c.11427C>T p.P3809= Synonymous 26/29 - 1
2-21228314-G-A c.11426C>T p.P3809L Missense 26/29 - 5
2-21228315-G-A c.11425C>T p.P3809S Missense 26/29 - 1
2-21228321-A-C c.11419T>G p.L3807V Missense 26/29 - 1
2-21228323-G-A c.11417C>T p.S3806F Missense 26/29 - 1
2-21228330-C-G c.11410G>C p.E3804Q Missense 26/29 - 1
2-21228330-C-T c.11410G>A p.E3804K Missense 26/29 - 3
2-21228331-T-A c.11409A>T p.P3803= Synonymous 26/29 - 1
2-21228331-T-C c.11409A>G p.P3803= Synonymous 26/29 - 1
2-21228331-T-G c.11409A>C p.P3803= Synonymous 26/29 - 1
2-21228333-G-A c.11407C>T p.P3803S Missense 26/29 - 3
2-21228334-T-A c.11406A>T p.Q3802H Missense 26/29 - 1
2-21228334-T-G c.11406A>C p.Q3802H Missense 26/29 - 1
2-21228336-G-C c.11404C>G p.Q3802E Missense 26/29 - 2
2-21228337-A-T c.11403T>A p.S3801= Synonymous 26/29 - 1
2-21228339-A-T c.11401T>A p.S3801T Missense 26/29 - 19
2-21228340-A-C c.11400T>G p.Y3800* Nonsense 26/29 - 1
2-21228347-G-C c.11393C>G p.T3798R Missense 26/29 - 2
2-21228349-T-C c.11391A>G p.L3797= Synonymous 26/29 - 1
2-21228351-A-T c.11389T>A p.L3797I Missense 26/29 - 1
2-21228357-C-A c.11383G>T p.D3795Y Missense 26/29 - 1
2-21228357-C-T c.11383G>A p.D3795N Missense 26/29 - 1
2-21228361-T-A c.11379A>T p.E3793D Missense 26/29 - 1
2-21228361-T-G c.11379A>C p.E3793D Missense 26/29 - 3
2-21228363-C-T c.11377G>A p.E3793K Missense 26/29 - 1
2-21228366-G-A c.11374C>T p.P3792S Missense 26/29 - 4
2-21228367-G-A c.11373C>T p.F3791= Synonymous 26/29 - 5
2-21228375-C-T c.11365G>A p.V3789I Missense 26/29 - 7
2-21228376-C-T c.11364G>A p.E3788= Synonymous 26/29 - 3
2-21228378-C-T c.11362G>A p.E3788K Missense 26/29 - 4
2-21228379-G-A c.11361C>T p.P3787= Synonymous 26/29 - 2
2-21228379-G-C c.11361C>G p.P3787= Synonymous 26/29 - 1
2-21228379-GG-TT c.11360_11361delinsAA p.P3787Q Missense 26/29 - 1
2-21228379-G-T c.11361C>A p.P3787= Synonymous 26/29 - 1
2-21228381-G-C c.11359C>G p.P3787A Missense 26/29 - 5
2-21228384-G-A c.11356C>T p.L3786F Missense 26/29 - 2
2-21228386-G-A c.11354C>T p.T3785I Missense 26/29 - 3
2-21228386-G-C c.11354C>G p.T3785R Missense 26/29 - 2
2-21228386-G-T c.11354C>A p.T3785K Missense 26/29 - 1
2-21228397-G-A c.11343C>T p.L3781= Synonymous 26/29 - 1
2-21228397-G-C c.11343C>G p.L3781= Synonymous 26/29 - 1
2-21228397-G-T c.11343C>A p.L3781= Synonymous 26/29 - 1
2-21228401-G-A c.11339C>T p.A3780V Missense 26/29 - 3
2-21228401-G-T c.11339C>A p.A3780D Missense 26/29 - 3
2-21228402-C-A c.11338G>T p.A3780S Missense 26/29 - 1
2-21228402-C-T c.11338G>A p.A3780T Missense 26/29 - 1
2-21228407-G-T c.11333C>A p.S3778* Nonsense 26/29 - 1
2-21228408-A-C c.11332T>G p.S3778A Missense 26/29 - 1
2-21228408-A-G c.11332T>C p.S3778P Missense 26/29 - 1
2-21228404-AATG-A c.11333_11335del p.S3778del InFrameDeletion 26/29 - 1
2-21228410-G-A c.11330C>T p.S3777L Missense 26/29 - 3
2-21228410-G-C c.11330C>G p.S3777* Nonsense 26/29 - 1
2-21228410-G-T c.11330C>A p.S3777* Nonsense 26/29 - 5
2-21228413-G-A c.11327C>T p.T3776I Missense 26/29 - 1
2-21228418-C-A c.11322G>T p.L3774= Synonymous 26/29 - 2
2-21228418-C-G c.11322G>C p.L3774= Synonymous 26/29 - 2
2-21228418-C-T c.11322G>A p.L3774= Synonymous 26/29 - 2
2-21228420-G-A c.11320C>T p.L3774= Synonymous 26/29 - 2
2-21228421-C-T c.11319G>A p.K3773= Synonymous 26/29 - 1
2-21228424-C-A c.11316G>T p.K3772N Missense 26/29 - 1
2-21228424-C-G c.11316G>C p.K3772N Missense 26/29 - 2
2-21228428-T-A c.11312A>T p.Y3771F Missense 26/29 - 1
2-21228428-T-C c.11312A>G p.Y3771C Missense 26/29 - 1
2-21228429-A-G c.11311T>C p.Y3771H Missense 26/29 - 1
2-21228431-A-C c.11309T>G p.I3770S Missense 26/29 - 1
2-21228432-T-C c.11308A>G p.I3770V Missense 26/29 - 1
2-21228435-G-C c.11305C>G p.Q3769E Missense 26/29 - 1
2-21228435-G-T c.11305C>A p.Q3769K Missense 26/29 - 1
2-21228436-T-C c.11304A>G p.I3768M Missense 26/29 - 2
2-21228437-A-G c.11303T>C p.I3768T Missense 26/29 - 8
2-21228441-C-A c.11299G>T p.E3767* Nonsense 26/29 - 1
2-21228441-C-T c.11299G>A p.E3767K Missense 26/29 - 2
2-21228445-G-T c.11295C>A p.F3765L Missense 26/29 - 3
2-21228445-G-C c.11295C>G p.F3765L Missense 26/29 - 1
2-21228447-A-G c.11293T>C p.F3765L Missense 26/29 - 1
2-21228449-T-A c.11291A>T p.D3764V Missense 26/29 - 1
2-21228449-T-G c.11291A>C p.D3764A Missense 26/29 - 2
2-21228450-C-A c.11290G>T p.D3764Y Missense 26/29 - 1
2-21228451-AAG-CCA c.11287_11289delinsTGG p.L3763W Missense 26/29 - 1
2-21228452-A-C c.11288T>G p.L3763R Missense 26/29 - 3
2-21228453-G-A c.11287C>T p.L3763F Missense 26/29 - 1
2-21228453-G-C c.11287C>G p.L3763V Missense 26/29 - 1
2-21228453-G-T c.11287C>A p.L3763I Missense 26/29 - 1
2-21228455-T-G c.11285A>C p.K3762T Missense 26/29 - 2
2-21228457-G-T c.11283C>A p.C3761* Nonsense 26/29 - 3
2-21228460-C-A c.11280G>T p.S3760= Synonymous 26/29 - 1
2-21228460-C-G c.11280G>C p.S3760= Synonymous 26/29 - 1
2-21228460-C-T c.11280G>A p.S3760= Synonymous 26/29 - 3
2-21228461-G-A c.11279C>T p.S3760L Missense 26/29 - 3
2-21228464-G-A c.11276C>T p.P3759L Missense 26/29 - 3
2-21228464-G-T c.11276C>A p.P3759Q Missense 26/29 - 2
2-21228465-G-A c.11275C>T p.P3759S Missense 26/29 - 3
2-21228467-A-G c.11273T>C p.V3758A Missense 26/29 - 4
2-21228468-C-A c.11272G>T p.V3758F Missense 26/29 - 5
2-21228468-C-G c.11272G>C p.V3758L Missense 26/29 - 2
2-21228468-C-T c.11272G>A p.V3758I Missense 26/29 - 2
2-21228474-G-A c.11266C>T p.L3756F Missense 26/29 - 3
2-21228477-C-A c.11263G>T p.D3755Y Missense 26/29 - 1
2-21228479-G-A c.11261C>T p.T3754I Missense 26/29 - 3
2-21228483-A-G c.11257T>C p.F3753L Missense 26/29 - 6
2-21228485-G-A c.11255C>T p.P3752L Missense 26/29 - 1
2-21228488-A-G c.11252T>C p.V3751A Missense 26/29 - 1
2-21228490-A-C c.11250T>G p.H3750Q Missense 26/29 - 1
2-21228495-A-G c.11245T>C p.F3749L Missense 26/29 - 2
2-21228497-G-A c.11243C>T p.T3748M Missense 26/29 - 1
2-21228499-A-C c.11241T>G p.P3747= Synonymous 26/29 - 1
2-21228499-A-G c.11241T>C p.P3747= Synonymous 26/29 - 1
2-21228499-A-T c.11241T>A p.P3747= Synonymous 26/29 - 1
2-21228501-G-C c.11239C>G p.P3747A Missense 26/29 - 2
2-21228502-C-T c.11238G>A p.M3746I Missense 26/29 - 1
2-21228504-T-A c.11236A>T p.M3746L Missense 26/29 - 1
2-21228504-T-C c.11236A>G p.M3746V Missense 26/29 - 1
2-21228507-C-A c.11233G>T p.V3745F Missense 26/29 - 1
2-21228507-C-T c.11233G>A p.V3745I Missense 26/29 - 3
2-21228510-G-C c.11230C>G p.L3744V Missense 26/29 - 1
2-21228510-G-T c.11230C>A p.L3744I Missense 26/29 - 2
2-21228511-A-C c.11229T>G p.V3743= Synonymous 26/29 - 1
2-21228511-A-G c.11229T>C p.V3743= Synonymous 26/29 - 1
2-21228511-A-T c.11229T>A p.V3743= Synonymous 26/29 - 1
2-21228516-A-C c.11224T>G p.S3742A Missense 26/29 - 2
2-21228522-G-T c.11218C>A p.L3740I Missense 26/29 - 1
2-21228525-C-A c.11215G>T p.D3739Y Missense 26/29 - 1
2-21228525-C-T c.11215G>A p.D3739N Missense 26/29 - 2
2-21228543-G-A c.11197C>T p.P3733S Missense 26/29 - 2
2-21228543-G-C c.11197C>G p.P3733A Missense 26/29 - 1
2-21228545-A-C c.11195T>G p.I3732S Missense 26/29 - 1
2-21228545-A-G c.11195T>C p.I3732T Missense 26/29 - 4
2-21228550-G-A c.11190C>T p.F3730= Synonymous 26/29 - 3
2-21228550-G-T c.11190C>A p.F3730L Missense 26/29 - 1
2-21228551-A-T c.11189T>A p.F3730Y Missense 26/29 - 1
2-21228558-C-T c.11182G>A p.D3728N Missense 26/29 - 5
2-21228560-G-T c.11180C>A p.A3727D Missense 26/29 - 1
2-21228567-C-A c.11173G>T p.V3725F Missense 26/29 - 1
2-21228569-T-C c.11171A>G p.K3724R Missense 26/29 - 2
2-21228574-A-G c.11166T>C p.P3722= Synonymous 26/29 - 1
2-21228576-G-A c.11164C>T p.P3722S Missense 26/29 - 4
2-21228578-A-G c.11162T>C p.I3721T Missense 26/29 - 2
2-21228579-T-G c.11161A>C p.I3721L Missense 26/29 - 2
2-21228580-G-A c.11160C>T p.S3720= Synonymous 26/29 - 1
2-21228587-G-C c.11153C>G p.S3718* Nonsense 26/29 - 1
2-21228588-A-G c.11152T>C p.S3718P Missense 26/29 - 1
2-21228589-A-T c.11151T>A p.Y3717* Nonsense 26/29 - 2
2-21228592-G-A c.11148C>T p.G3716= Synonymous 26/29 - 2
2-21228592-G-C c.11148C>G p.G3716= Synonymous 26/29 - 1
2-21228592-G-T c.11148C>A p.G3716= Synonymous 26/29 - 1
2-21228594-C-A c.11146G>T p.G3716C Missense 26/29 - 1
2-21228594-C-T c.11146G>A p.G3716S Missense 26/29 - 2
2-21228599-G-A c.11141C>T p.P3714L Missense 26/29 - 1
2-21228599-G-C c.11141C>G p.P3714R Missense 26/29 - 1
2-21228599-G-T c.11141C>A p.P3714H Missense 26/29 - 2
2-21228603-T-TA c.11136_11137insT p.N3713* Nonsense 26/29 - 1
2-21228607-G-C c.11133C>G p.T3711= Synonymous 26/29 - 1
2-21228614-A-G c.11126T>C p.V3709A Missense 26/29 - 1
2-21228614-A-T c.11126T>A p.V3709E Missense 26/29 - 1
2-21228617-A-T c.11123T>A p.F3708Y Missense 26/29 - 1
2-21228615-CA-C c.11124del p.F3708Lfs*16 Frameshift 26/29 - 1
2-21228616-A-T c.11124T>A p.F3708L Missense 26/29 - 1
2-21228620-G-A c.11120C>T p.A3707V Missense 26/29 - 4
2-21228625-TG-AA c.11114_11115delinsTT p.S3705F Missense 26/29 - 1
2-21228632-C-T c.11108G>A p.R3703H Missense 26/29 - 3
2-21228633-G-A c.11107C>T p.R3703C Missense 26/29 - 9
2-21228636-G-A c.11104C>T p.L3702F Missense 26/29 - 1
2-21228636-G-T c.11104C>A p.L3702I Missense 26/29 - 3
2-21228645-T-A c.11095A>T p.R3699* Nonsense 26/29 - 1
2-21228646-C-A c.11094G>T p.R3698S Missense 26/29 - 1
2-21228646-C-G c.11094G>C p.R3698S Missense 26/29 - 1
2-21228649-A-G c.11091T>C p.G3697= Synonymous 26/29 - 1
2-21228650-C-T c.11090G>A p.G3697D Missense 26/29 - 5
2-21228651-C-T c.11089G>A p.G3697S Missense 26/29 - 1
2-21228650-CCAATGCTGGTGGTTACATCCAG-C c.11068_11089del p.L3690Vfs*27 Frameshift 26/29 - 1
2-21228652-A-C c.11088T>G p.I3696M Missense 26/29 - 1
2-21228653-A-G c.11087T>C p.I3696T Missense 26/29 - 1
2-21228657-T-C c.11083A>G p.S3695G Missense 26/29 - 1
2-21228658-G-T c.11082C>A p.T3694= Synonymous 26/29 - 1
2-21228662-G-A c.11078C>T p.T3693I Missense 26/29 - 1
2-21228662-G-C c.11078C>G p.T3693S Missense 26/29 - 1
2-21228662-G-T c.11078C>A p.T3693N Missense 26/29 - 3
2-21228664-T-C c.11076A>G p.V3692= Synonymous 26/29 - 1
2-21228669-C-T c.11071G>A p.D3691N Missense 26/29 - 1
2-21228672-G-C c.11068C>G p.L3690V Missense 26/29 - 1
2-21228675-T-G c.11065A>C p.K3689Q Missense 26/29 - 1
2-21228677-A-G c.11063T>C p.L3688P Missense 26/29 - 1
2-21228677-AG-GC c.11062_11063delinsGC p.L3688A Missense 26/29 - 1
2-21228678-G-A c.11062C>T p.L3688= Synonymous 26/29 - 3
2-21228679-G-A c.11061C>T p.F3687= Synonymous 26/29 - 4
2-21228683-T-A c.11057A>T p.D3686V Missense 26/29 - 1
2-21228684-TCCCATAAGCTCTTGTCATAGAC-T c.11035_11056del p.V3679Ifs*3 Frameshift 26/29 - 1
2-21228689-AA-GC c.11050_11051delinsGC p.L3684A Missense 26/29 - 1
2-21228691-G-T c.11049C>A p.S3683R Missense 26/29 - 1
2-21228692-C-A c.11048G>T p.S3683I Missense 26/29 - 2
2-21228694-C-A c.11046G>T p.K3682N Missense 26/29 - 1
2-21228694-C-G c.11046G>C p.K3682N Missense 26/29 - 1
2-21228699-C-T c.11041G>A p.D3681N Missense 26/29 - 1
2-21228700-A-C c.11040T>G p.Y3680* Nonsense 26/29 - 1
2-21228707-G-A c.11033C>T p.P3678L Missense 26/29 - 1
2-21228707-G-T c.11033C>A p.P3678Q Missense 26/29 - 1
2-21228712-G-A c.11028C>T p.I3676= Synonymous 26/29 - 5
2-21228712-G-T c.11028C>A p.I3676= Synonymous 26/29 - 4
2-21228715-G-A c.11025C>T p.I3675= Synonymous 26/29 - 3
2-21228715-G-T c.11025C>A p.I3675= Synonymous 26/29 - 1
2-21228720-T-A c.11020A>T p.N3674Y Missense 26/29 - 1
2-21228722-T-C c.11018A>G p.K3673R Missense 26/29 - 1
2-21228723-T-G c.11017A>C p.K3673Q Missense 26/29 - 1
2-21228726-G-T c.11014C>A p.L3672I Missense 26/29 - 1
2-21228727-G-T c.11013C>A p.F3671L Missense 26/29 - 1
2-21228730-C-A c.11010G>T p.R3670S Missense 26/29 - 1
2-21228730-C-G c.11010G>C p.R3670S Missense 26/29 - 2
2-21228731-C-T c.11009G>A p.R3670K Missense 26/29 - 2
2-21228731-CT-C c.11008del p.R3670Gfs*19 Frameshift 26/29 - 1
2-21228734-A-C c.11006T>G p.L3669R Missense 26/29 - 1
2-21228736-G-T c.11004C>A p.H3668Q Missense 26/29 - 1
2-21228740-C-A c.11000G>T p.G3667V Missense 26/29 - 1
2-21228740-C-T c.11000G>A p.G3667E Missense 26/29 - 1
2-21228741-C-T c.10999G>A p.G3667R Missense 26/29 - 2
2-21228740-CCTT-C c.10997_10999del p.E3666del InFrameDeletion 26/29 - 4
2-21228743-TC-AT c.10996_10997delinsAT p.E3666I Missense 26/29 - 1
2-21228746-A-G c.10994T>C p.L3665S Missense 26/29 - 1
2-21228749-G-A c.10991C>T p.S3664F Missense 26/29 - 2
2-21228752-C-T c.10988G>A p.G3663E Missense 26/29 - 6
2-21228753-C-T c.10987G>A p.G3663R Missense 26/29 - 4
2-21228754-21228755---GCAATGTCAAGGTGTGCCTTTTCTTG c.10960_10985dup p.G3663Kfs*12 frameshift_variant 26/29 - 1
2-21228755-G-T c.10985C>A p.A3662E Missense 26/29 - 1
2-21228758-A-G c.10982T>C p.I3661T Missense 26/29 - 1
2-21228760-G-A c.10980C>T p.D3660= Synonymous 26/29 - 1
2-21228762-C-T c.10978G>A p.D3660N Missense 26/29 - 2
2-21228765-G-A c.10975C>T p.L3659F Missense 26/29 - 5
2-21228765-G-C c.10975C>G p.L3659V Missense 26/29 - 1
2-21228766-G-A c.10974C>T p.H3658= Synonymous 26/29 - 2
2-21228767-T-G c.10973A>C p.H3658P Missense 26/29 - 4
2-21228768-G-A c.10972C>T p.H3658Y Missense 26/29 - 2
2-21228772-C-A c.10968G>T p.K3656N Missense 26/29 - 2
2-21228772-C-G c.10968G>C p.K3656N Missense 26/29 - 1
2-21228773-T-A c.10967A>T p.K3656M Missense 26/29 - 1
2-21228777-C-T c.10963G>A p.E3655K Missense 26/29 - 1
2-21228780-G-T c.10960C>A p.Q3654K Missense 26/29 - 1
2-21228779-TG-T c.10960del p.Q3654Kfs*12 Frameshift 26/29 - 1
2-21228784-A-G c.10956T>C p.N3652= Synonymous 26/29 - 1
2-21228785-T-C c.10955A>G p.N3652S Missense 26/29 - 2
2-21228787-G-A c.10953C>T p.S3651= Synonymous 26/29 - 1
2-21228793-C-T c.10947G>A p.E3649= Synonymous 26/29 - 2
2-21228795-C-T c.10945G>A p.E3649K Missense 26/29 - 8
2-21228796-G-A c.10944C>T p.V3648= Synonymous 26/29 - 4
2-21228796-G-C c.10944C>G p.V3648= Synonymous 26/29 - 3
2-21228796-G-T c.10944C>A p.V3648= Synonymous 26/29 - 3
2-21228798-C-T c.10942G>A p.V3648I Missense 26/29 - 1
2-21228799-C-A c.10941G>T p.Q3647H Missense 26/29 - 2
2-21228799-C-G c.10941G>C p.Q3647H Missense 26/29 - 2
2-21228803-C-T c.10937G>A p.S3646N Missense 26/29 - 1
2-21228804-T-A c.10936A>T p.S3646C Missense 26/29 - 1
2-21228804-T-C c.10936A>G p.S3646G Missense 26/29 - 1
2-21228806-T-C c.10934A>G p.Q3645R Missense 26/29 - 2
2-21228808-G-A c.10932C>T p.F3644= Synonymous 26/29 - 3
2-21228809-A-G c.10931T>C p.F3644S Missense 26/29 - 1
2-21228815-C-T c.10925G>A p.G3642E Missense 26/29 - 2
2-21228818-G-T c.10922C>A p.S3641Y Missense 26/29 - 3
2-21228819-A-C c.10921T>G p.S3641A Missense 26/29 - 2
2-21228822-G-A c.10918C>T p.H3640Y Missense 26/29 - 1
2-21228827-C-T c.10913G>A p.R3638Q Missense 26/29 - 43
2-21228828-G-A c.10912C>T p.R3638W Missense 26/29 - 4
2-21228828-G-T c.10912C>A p.R3638= Synonymous 26/29 - 2
2-21228838-T-A c.10902A>T p.K3634N Missense 26/29 - 1
2-21228838-T-G c.10902A>C p.K3634N Missense 26/29 - 1
2-21228841-C-T c.10899G>A p.W3633* Nonsense 26/29 - 6
2-21228842-C-T c.10898G>A p.W3633* Nonsense 26/29 - 4
2-21228843-A-G c.10897T>C p.W3633R Missense 26/29 - 2
2-21228843-A-T c.10897T>A p.W3633R Missense 26/29 - 2
2-21228844-T-C c.10896A>G p.R3632= Synonymous 26/29 - 1
2-21228846-T-G c.10894A>C p.R3632= Synonymous 26/29 - 1
2-21228845-C-G c.10895G>C p.R3632T Missense 26/29 - 1
2-21228845-CT-TG c.10894_10895delinsCA p.R3632Q Missense 26/29 - 1
2-21228846-T-C c.10894A>G p.R3632G Missense 26/29 - 2
2-21228847-G-A c.10893C>T p.I3631= Synonymous 26/29 - 1
2-21228850-C-A c.10890G>T p.K3630N Missense 26/29 - 2
2-21228850-C-G c.10890G>C p.K3630N Missense 26/29 - 2
2-21228853-C-T c.10887G>A p.Q3629= Synonymous 26/29 - 2
2-21228853-C-CTTAGTGTTCTTAGTGATCT c.10886_10887insAGATCACTAAGAACACTAA p.K3630Dfs*3 Frameshift 26/29 - 2
2-21228854-T-A c.10886A>T p.Q3629L Missense 26/29 - 1
2-21228855-G-A c.10885C>T p.Q3629* Nonsense 26/29 - 4
2-21228855-G-C c.10885C>G p.Q3629E Missense 26/29 - 2
2-21228858-T-A c.10882A>T p.N3628Y Missense 26/29 - 1
2-21228859-C-A c.10881G>T p.K3627N Missense 26/29 - 2
2-21228859-C-G c.10881G>C p.K3627N Missense 26/29 - 4
2-21228861-T-A c.10879A>T p.K3627* Nonsense 26/29 - 2
2-21228862-A-C c.10878T>G p.T3626= Synonymous 26/29 - 4
2-21228862-A-G c.10878T>C p.T3626= Synonymous 26/29 - 2
2-21228862-A-T c.10878T>A p.T3626= Synonymous 26/29 - 2
2-21228863-G-A c.10877C>T p.T3626I Missense 26/29 - 1
2-21228863-G-C c.10877C>G p.T3626S Missense 26/29 - 1
2-21228866-T-C c.10874A>G p.N3625S Missense 26/29 - 1
2-21228875-A-T c.10865T>A p.L3622Q Missense 26/29 - 1
2-21228878-G-C c.10862C>G p.A3621G Missense 26/29 - 1
2-21228879-C-A c.10861G>T p.A3621S Missense 26/29 - 2
2-21228880-C-A c.10860G>T p.V3620= Synonymous 26/29 - 1
2-21228880-C-G c.10860G>C p.V3620= Synonymous 26/29 - 1
2-21228880-C-T c.10860G>A p.V3620= Synonymous 26/29 - 1
2-21228883-T-C c.10857A>G p.E3619= Synonymous 26/29 - 1
2-21228885-C-T c.10855G>A p.E3619K Missense 26/29 - 3
2-21228887-T-C c.10853A>G p.Q3618R Missense 26/29 - 2
2-21228890-C-T c.10850G>A p.G3617D Missense 26/29 - 1
2-21228891-CA-C c.10848del p.G3617Afs*6 Frameshift 26/29 - 3
2-21228894-G-A c.10846C>T p.L3616F Missense 26/29 - 5
2-21228897-C-A c.10843G>T p.D3615Y Missense 26/29 - 2
2-21228898-A-C c.10842T>G p.P3614= Synonymous 26/29 - 1
2-21228901-G-A c.10839C>T p.F3613= Synonymous 26/29 - 3
2-21228901-G-GA c.10838dup p.D3615* Nonsense 26/29 - 1
2-21228904-A-G c.10836T>C p.D3612= Synonymous 26/29 - 1
2-21228905-T-C c.10835A>G p.D3612G Missense 26/29 - 1
2-21228906-C-T c.10834G>A p.D3612N Missense 26/29 - 1
2-21228907-A-T c.10833T>A p.H3611Q Missense 26/29 - 1
2-21228914-G-A c.10826C>T p.S3609F Missense 26/29 - 3
2-21228915-A-T c.10825T>A p.S3609T Missense 26/29 - 2
2-21228916-A-T c.10824T>A p.S3608R Missense 26/29 - 1
2-21228920-G-A c.10820C>T p.P3607L Missense 26/29 - 1
2-21228920-G-T c.10820C>A p.P3607H Missense 26/29 - 3
2-21228921-G-C c.10819C>G p.P3607A Missense 26/29 - 2
2-21228921-G-T c.10819C>A p.P3607T Missense 26/29 - 1
2-21228922-C-G c.10818G>C p.Q3606H Missense 26/29 - 1
2-21228922-C-T c.10818G>A p.Q3606= Synonymous 26/29 - 1
2-21228926-C-A c.10814G>T p.S3605I Missense 26/29 - 1
2-21228927-T-C c.10813A>G p.S3605G Missense 26/29 - 1
2-21228929-G-A c.10811C>T p.A3604V Missense 26/29 - 2
2-21228929-G-T c.10811C>A p.A3604E Missense 26/29 - 1
2-21228931-A-C c.10809T>G p.H3603Q Missense 26/29 - 1
2-21228931-A-T c.10809T>A p.H3603Q Missense 26/29 - 1
2-21228932-T-C c.10808A>G p.H3603R Missense 26/29 - 5
2-21228933-G-A c.10807C>T p.H3603Y Missense 26/29 - 1
2-21228933-G-T c.10807C>A p.H3603N Missense 26/29 - 3
2-21228934-G-A c.10806C>T p.V3602= Synonymous 26/29 - 2
2-21228935-A-AG c.10804_10805insC p.V3602Afs*11 Frameshift 26/29 - 1
2-21228939-G-A c.10801C>T p.Q3601* Nonsense 26/29 - 2
2-21228942-C-A c.10798G>T p.V3600F Missense 26/29 - 2
2-21228942-C-T c.10798G>A p.V3600I Missense 26/29 - 2
2-21228943-A-T c.10797T>A p.L3599= Synonymous 26/29 - 2
2-21228947-G-A c.10793C>T p.A3598V Missense 26/29 - 3
2-21228948-C-T c.10792G>A p.A3598T Missense 26/29 - 1
2-21228952-C-T c.10788G>A p.M3596I Missense 26/29 - 1
2-21228955-T-G c.10785A>C p.Q3595H Missense 26/29 - 3
2-21228957-G-T c.10783C>A p.Q3595K Missense 26/29 - 4
2-21228958-C-T c.10782G>A p.W3594* Nonsense 26/29 - 1
2-21228959-C-A c.10781G>T p.W3594L Missense 26/29 - 1
2-21228959-C-T c.10781G>A p.W3594* Nonsense 26/29 - 3
2-21228960-A-C c.10780T>G p.W3594G Missense 26/29 - 3
2-21228960-A-G c.10780T>C p.W3594R Missense 26/29 - 8
2-21228960-A-T c.10780T>A p.W3594R Missense 26/29 - 5
2-21228963-G-C c.10777C>G p.P3593A Missense 26/29 - 1
2-21228964-A-C c.10776T>G p.S3592= Synonymous 26/29 - 1
2-21228964-A-G c.10776T>C p.S3592= Synonymous 26/29 - 1
2-21228964-A-T c.10776T>A p.S3592= Synonymous 26/29 - 1
2-21228965-G-A c.10775C>T p.S3592F Missense 26/29 - 3
2-21228967-G-A c.10773C>T p.L3591= Synonymous 26/29 - 4
2-21228969-G-A c.10771C>T p.L3591F Missense 26/29 - 1
2-21228971-T-A c.10769A>T p.E3590V Missense 26/29 - 1
2-21228972-C-A c.10768G>T p.E3590* Nonsense 26/29 - 1
2-21228972-C-G c.10768G>C p.E3590Q Missense 26/29 - 2
2-21228972-C-T c.10768G>A p.E3590K Missense 26/29 - 1
2-21228977-G-A c.10763C>T p.T3588I Missense 26/29 - 3
2-21228977-G-C c.10763C>G p.T3588S Missense 26/29 - 2
2-21228981-C-T c.10759G>A p.A3587T Missense 26/29 - 1
2-21228984-T-C c.10756A>G p.K3586E Missense 26/29 - 1
2-21228985-G-C c.10755C>G p.S3585R Missense 26/29 - 1
2-21228985-G-T c.10755C>A p.S3585R Missense 26/29 - 1
2-21228986-C-A c.10754G>T p.S3585I Missense 26/29 - 1
2-21228986-C-T c.10754G>A p.S3585N Missense 26/29 - 1
2-21228987-T-C c.10753A>G p.S3585G Missense 26/29 - 1
2-21228991-A-C c.10749T>G p.H3583Q Missense 26/29 - 1
2-21228992-T-A c.10748A>T p.H3583L Missense 26/29 - 1
2-21228996-C-T c.10744G>A p.E3582K Missense 26/29 - 4
2-21228998-C-T c.10742G>A p.G3581E Missense 26/29 - 3
2-21228999-C-T c.10741G>A p.G3581R Missense 26/29 - 3
2-21229000-G-A c.10740C>T p.N3580= Synonymous 26/29 - 3
2-21229000-G-C c.10740C>G p.N3580K Missense 26/29 - 5
2-21229001-T-C c.10739A>G p.N3580S Missense 26/29 - 8
2-21229003-G-A c.10737C>T p.T3579= Synonymous 26/29 - 3
2-21229003-GG-CC c.10736_10737inv p.T3579R Missense 26/29 - 1
2-21229003-G-T c.10737C>A p.T3579= Synonymous 26/29 - 2
2-21229006-G-A c.10734C>T p.F3578= Synonymous 26/29 - 1
2-21229009-A-G c.10731T>C p.F3577= Synonymous 26/29 - 1
2-21229011-A-T c.10729T>A p.F3577I Missense 26/29 - 2
2-21229012-G-A c.10728C>T p.L3576= Synonymous 26/29 - 1
2-21229012-G-T c.10728C>A p.L3576= Synonymous 26/29 - 1
2-21229014-G-A c.10726C>T p.L3576F Missense 26/29 - 1
2-21229014-G-T c.10726C>A p.L3576I Missense 26/29 - 1
2-21229015-G-A c.10725C>T p.G3575= Synonymous 26/29 - 1
2-21229016-C-T c.10724G>A p.G3575D Missense 26/29 - 1
2-21229015-GC-G c.10724del p.G3575Afs*48 Frameshift 26/29 - 3
2-21229018-C-T c.10722G>A p.E3574= Synonymous 26/29 - 2
2-21229022-A-G c.10718T>C p.L3573P Missense 26/29 - 2
2-21229023-G-A c.10717C>T p.L3573= Synonymous 26/29 - 1
2-21229023-G-T c.10717C>A p.L3573I Missense 26/29 - 1
2-21229024-C-T c.10716G>A p.Q3572= Synonymous 26/29 - 2
2-21229025-T-A c.10715A>T p.Q3572L Missense 26/29 - 1
2-21229032-G-A c.10708C>T p.H3570Y Missense 26/29 - 7
2-21229033-G-A c.10707C>T p.N3569= Synonymous 26/29 - 1
2-21229033-G-C c.10707C>G p.N3569K Missense 26/29 - 1
2-21229033-G-T c.10707C>A p.N3569K Missense 26/29 - 1
2-21229034-T-G c.10706A>C p.N3569T Missense 26/29 - 1
2-21229037-T-C c.10703A>G p.K3568R Missense 26/29 - 2
2-21229039-C-A c.10701G>T p.T3567= Synonymous 26/29 - 3
2-21229039-C-T c.10701G>A p.T3567= Synonymous 26/29 - 3
2-21229040-G-A c.10700C>T p.T3567M Missense 26/29 - 8
2-21229047-G-A c.10693C>T p.H3565Y Missense 26/29 - 2
2-21229048-C-A c.10692G>T p.E3564D Missense 26/29 - 2
2-21229048-C-G c.10692G>C p.E3564D Missense 26/29 - 2
2-21229048-C-T c.10692G>A p.E3564= Synonymous 26/29 - 3
2-21229050-C-T c.10690G>A p.E3564K Missense 26/29 - 2
2-21229051-C-A c.10689G>T p.W3563C Missense 26/29 - 1
2-21229051-C-T c.10689G>A p.W3563* Nonsense 26/29 - 1
2-21229052-C-T c.10688G>A p.W3563* Nonsense 26/29 - 1
2-21229057-G-A c.10683C>T p.S3561= Synonymous 26/29 - 3
2-21229058-G-A c.10682C>T p.S3561F Missense 26/29 - 7
2-21229058-G-T c.10682C>A p.S3561Y Missense 26/29 - 2
2-21229061-T-C c.10679A>G p.Y3560C Missense 26/29 - 8
2-21229065-T-C c.10675A>G p.I3559V Missense 26/29 - 1
2-21229066-G-A c.10674C>T p.R3558= Synonymous 26/29 - 1
2-21229066-G-C c.10674C>G p.R3558= Synonymous 26/29 - 1
2-21229066-G-T c.10674C>A p.R3558= Synonymous 26/29 - 1
2-21229067-C-T c.10673G>A p.R3558H Missense 26/29 - 4
2-21229068-G-A c.10672C>T p.R3558C Missense 26/29 - 28
2-21229068-G-T c.10672C>A p.R3558S Missense 26/29 - 1
2-21229074-G-A c.10666C>T p.L3556F Missense 26/29 - 1
2-21229074-G-T c.10666C>A p.L3556I Missense 26/29 - 1
2-21229075-T-A c.10665A>T p.T3555= Synonymous 26/29 - 1
2-21229075-T-C c.10665A>G p.T3555= Synonymous 26/29 - 1
2-21229075-T-G c.10665A>C p.T3555= Synonymous 26/29 - 1
2-21229080-C-A c.10660G>T p.A3554S Missense 26/29 - 1
2-21229080-C-T c.10660G>A p.A3554T Missense 26/29 - 1
2-21229083-C-T c.10657G>A p.E3553K Missense 26/29 - 2
2-21229086-C-G c.10654G>C p.G3552R Missense 26/29 - 2
2-21229086-C-T c.10654G>A p.G3552R Missense 26/29 - 5
2-21229091-A-C c.10649T>G p.F3550C Missense 26/29 - 2
2-21229092-A-C c.10648T>G p.F3550V Missense 26/29 - 2
2-21229095-T-G c.10645A>C p.N3549H Missense 26/29 - 3
2-21229096-T-A c.10644A>T p.E3548D Missense 26/29 - 2
2-21229098-C-T c.10642G>A p.E3548K Missense 26/29 - 4
2-21229100-T-C c.10640A>G p.K3547R Missense 26/29 - 1
2-21229107-C-A c.10633G>T p.E3545* Nonsense 26/29 - 3
2-21229107-C-T c.10633G>A p.E3545K Missense 26/29 - 1
2-21229110-G-A c.10630C>T p.L3544F Missense 26/29 - 1
2-21229109-AG-A c.10630del p.E3545Kfs*2 Frameshift 26/29 - 2
2-21229111-G-A c.10629C>T p.N3543= Synonymous 26/29 - 1
2-21229114-C-A c.10626G>T p.W3542C Missense 26/29 - 3
2-21229114-C-T c.10626G>A p.W3542* Nonsense 26/29 - 2
2-21229115-C-T c.10625G>A p.W3542* Nonsense 26/29 - 3
2-21229117-G-A c.10623C>T p.I3541= Synonymous 26/29 - 2
2-21229118-A-G c.10622T>C p.I3541T Missense 26/29 - 1
2-21229119-T-C c.10621A>G p.I3541V Missense 26/29 - 1
2-21229121-T-C c.10619A>G p.D3540G Missense 26/29 - 1
2-21229122-C-T c.10618G>A p.D3540N Missense 26/29 - 2
2-21229119-TATC-T c.10618_10620del p.D3540del InFrameDeletion 26/29 - 1
2-21229125-C-T c.10615G>A p.D3539N Missense 26/29 - 6
2-21229127-A-T c.10613T>A p.I3538N Missense 26/29 - 1
2-21229136-G-A c.10604C>T p.T3535I Missense 26/29 - 1
2-21229138-G-A c.10602C>T p.G3534= Synonymous 26/29 - 1
2-21229138-G-C c.10602C>G p.G3534= Synonymous 26/29 - 1
2-21229138-G-T c.10602C>A p.G3534= Synonymous 26/29 - 1
2-21229140-C-T c.10600G>A p.G3534S Missense 26/29 - 1
2-21229146-G-C c.10594C>G p.L3532V Missense 26/29 - 1
2-21229149-T-C c.10591A>G p.K3531E Missense 26/29 - 1
2-21229150-CAC-GAT c.10588_10590delinsATC p.V3530I Missense 26/29 - 1
2-21229152-C-T c.10588G>A p.V3530M Missense 26/29 - 2
2-21229154-G-A c.10586C>T p.S3529L Missense 26/29 - 5
2-21229158-A-T c.10582T>A p.S3528T Missense 26/29 - 2
2-21229160-C-A c.10580G>T p.R3527L Missense 26/29 - 22
2-21229160-C-G c.10580G>C p.R3527P Missense 26/29 - 1
2-21229160-CG-TC c.10579_10580delinsGA p.R3527E Missense 26/29 - 2
2-21229160-C-T c.10580G>A p.R3527Q Missense 26/29 - 142
2-21229161-G-A c.10579C>T p.R3527W Missense 26/29 - 55
2-21229162-TGT-ACA c.10576_10578inv p.T3526C Missense 26/29 - 1
2-21229164-T-C c.10576A>G p.T3526A Missense 26/29 - 1
2-21229166-C-T c.10574G>A p.S3525N Missense 26/29 - 1
2-21229168-C-A c.10572G>T p.K3524N Missense 26/29 - 1
2-21229168-C-G c.10572G>C p.K3524N Missense 26/29 - 1
2-21229169-T-G c.10571A>C p.K3524T Missense 26/29 - 2
2-21229171-G-A c.10569C>T p.S3523= Synonymous 26/29 - 1
2-21229171-G-C c.10569C>G p.S3523= Synonymous 26/29 - 2
2-21229171-G-T c.10569C>A p.S3523= Synonymous 26/29 - 1
2-21229177-C-T c.10563G>A p.L3521= Synonymous 26/29 - 1
2-21229184-G-A c.10556C>T p.T3519I Missense 26/29 - 1
2-21229186-G-C c.10554C>G p.N3518K Missense 26/29 - 1
2-21229186-G-T c.10554C>A p.N3518K Missense 26/29 - 1
2-21229188-T-C c.10552A>G p.N3518D Missense 26/29 - 1
2-21229188-T-G c.10552A>C p.N3518H Missense 26/29 - 5
2-21229189-G-T c.10551C>A p.A3517= Synonymous 26/29 - 1
2-21229190-G-A c.10550C>T p.A3517V Missense 26/29 - 2
2-21229191-C-T c.10549G>A p.A3517T Missense 26/29 - 5
2-21229201-A-C c.10539T>G p.I3513M Missense 26/29 - 2
2-21229201-A-G c.10539T>C p.I3513= Synonymous 26/29 - 1
2-21229202-A-C c.10538T>G p.I3513S Missense 26/29 - 1
2-21229205-G-T c.10535C>A p.T3512N Missense 26/29 - 2
2-21229206-T-C c.10534A>G p.T3512A Missense 26/29 - 1
2-21229208-C-T c.10532G>A p.G3511E Missense 26/29 - 4
2-21229211-G-A c.10529C>T p.S3510L Missense 26/29 - 3
2-21229215-A-C c.10525T>G p.Y3509D Missense 26/29 - 1
2-21229219-C-A c.10521G>T p.R3507= Synonymous 26/29 - 1
2-21229220-C-A c.10520G>T p.R3507L Missense 26/29 - 2
2-21229220-C-G c.10520G>C p.R3507P Missense 26/29 - 1
2-21229220-C-T c.10520G>A p.R3507Q Missense 26/29 - 4
2-21229221-G-A c.10519C>T p.R3507W Missense 26/29 - 8
2-21229221-G-T c.10519C>A p.R3507= Synonymous 26/29 - 1
2-21229223-G-A c.10517C>T p.S3506F Missense 26/29 - 5
2-21229223-G-T c.10517C>A p.S3506Y Missense 26/29 - 2
2-21229227-G-A c.10513C>T p.L3505F Missense 26/29 - 1
2-21229227-G-T c.10513C>A p.L3505I Missense 26/29 - 1
2-21229229-A-G c.10511T>C p.V3504A Missense 26/29 - 1
2-21229230-C-T c.10510G>A p.V3504I Missense 26/29 - 2
2-21229231-C-A c.10509G>T p.S3503= Synonymous 26/29 - 2
2-21229231-C-G c.10509G>C p.S3503= Synonymous 26/29 - 1
2-21229231-CGA-GTT c.10507_10509delinsAAC p.S3503N Missense 26/29 - 1
2-21229231-C-T c.10509G>A p.S3503= Synonymous 26/29 - 4
2-21229232-G-A c.10508C>T p.S3503L Missense 26/29 - 11
2-21229235-C-T c.10505G>A p.G3502D Missense 26/29 - 1
2-21229236-C-A c.10504G>T p.G3502C Missense 26/29 - 5
2-21229236-C-G c.10504G>C p.G3502R Missense 26/29 - 1
2-21229236-C-T c.10504G>A p.G3502S Missense 26/29 - 3
2-21229237-C-A c.10503G>T p.K3501N Missense 26/29 - 3
2-21229237-C-G c.10503G>C p.K3501N Missense 26/29 - 3
2-21229243-A-C c.10497T>G p.D3499E Missense 26/29 - 1
2-21229245-C-A c.10495G>T p.D3499Y Missense 26/29 - 1
2-21229245-C-T c.10495G>A p.D3499N Missense 26/29 - 1
2-21229248-C-G c.10492G>C p.G3498R Missense 26/29 - 1
2-21229248-C-T c.10492G>A p.G3498R Missense 26/29 - 3
2-21229251-T-A c.10489A>T p.K3497* Nonsense 26/29 - 1
2-21229252-G-A c.10488C>T p.T3496= Synonymous 26/29 - 2
2-21229253-G-A c.10487C>T p.T3496I Missense 26/29 - 2
2-21229254-T-C c.10486A>G p.T3496A Missense 26/29 - 5
2-21229255-A-T c.10485T>A p.S3495= Synonymous 26/29 - 1
2-21229256-G-C c.10484C>G p.S3495C Missense 26/29 - 1
2-21229257-A-T c.10483T>A p.S3495T Missense 26/29 - 3
2-21229259-G-A c.10481C>T p.S3494L Missense 26/29 - 3
2-21229263-C-A c.10477G>T p.E3493* Nonsense 26/29 - 1
2-21229263-C-T c.10477G>A p.E3493K Missense 26/29 - 2
2-21229264-A-C c.10476T>G p.I3492M Missense 26/29 - 1
2-21229265-A-G c.10475T>C p.I3492T Missense 26/29 - 2
2-21229266-T-A c.10474A>T p.I3492F Missense 26/29 - 1
2-21229268-G-A c.10472C>T p.S3491F Missense 26/29 - 2
2-21229275-A-G c.10465T>C p.Y3489H Missense 26/29 - 1
2-21229277-GA-CC c.10462_10463delinsGG p.S3488G Missense 26/29 - 1
2-21229280-G-A c.10460C>T p.T3487I Missense 26/29 - 1
2-21229280-G-T c.10460C>A p.T3487N Missense 26/29 - 2
2-21229286-C-T c.10454G>A p.S3485N Missense 26/29 - 1
2-21229301-T-C c.10439A>G p.K3480R Missense 26/29 - 1
2-21229302-T-C c.10438A>G p.K3480E Missense 26/29 - 1
2-21229306-G-A c.10434C>T p.D3478= Synonymous 26/29 - 2
2-21229310-A-G c.10430T>C p.V3477A Missense 26/29 - 1
2-21229313-G-T c.10427C>A p.A3476E Missense 26/29 - 1
2-21229314-C-T c.10426G>A p.A3476T Missense 26/29 - 1
2-21229316-C-G c.10424G>C p.G3475A Missense 26/29 - 1
2-21229316-C-T c.10424G>A p.G3475E Missense 26/29 - 4
2-21229317-C-T c.10423G>A p.G3475R Missense 26/29 - 2
2-21229320-T-C c.10420A>G p.K3474E Missense 26/29 - 1
2-21229322-G-A c.10418C>T p.A3473V Missense 26/29 - 4
2-21229323-C-T c.10417G>A p.A3473T Missense 26/29 - 4
2-21229324-G-T c.10416C>A p.T3472= Synonymous 26/29 - 2
2-21229326-T-G c.10414A>C p.T3472P Missense 26/29 - 1
2-21229327-TA-T c.10413del p.T3472Pfs*50 Frameshift 26/29 - 1
2-21229328-G-C c.10412C>G p.S3471C Missense 26/29 - 1
2-21229329-A-G c.10411T>C p.S3471P Missense 26/29 - 2
2-21229335-G-A c.10405C>T p.L3469= Synonymous 26/29 - 1
2-21229338-T-C c.10402A>G p.M3468V Missense 26/29 - 1
2-21229339-T-A c.10401A>T p.S3467= Synonymous 26/29 - 1
2-21229339-T-C c.10401A>G p.S3467= Synonymous 26/29 - 1
2-21229339-T-G c.10401A>C p.S3467= Synonymous 26/29 - 1
2-21229340-G-C c.10400C>G p.S3467* Nonsense 26/29 - 1
2-21229340-G-T c.10400C>A p.S3467* Nonsense 26/29 - 1
2-21229343-G-T c.10397C>A p.S3466Y Missense 26/29 - 1
2-21229347-T-C c.10393A>G p.N3465D Missense 26/29 - 1
2-21229348-G-A c.10392C>T p.F3464= Synonymous 26/29 - 1
2-21229353-C-A c.10387G>T p.D3463Y Missense 26/29 - 1
2-21229355-T-C c.10385A>G p.Y3462C Missense 26/29 - 3
2-21229357-C-A c.10383G>T p.K3461N Missense 26/29 - 1
2-21229357-C-G c.10383G>C p.K3461N Missense 26/29 - 1
2-21229361-A-C c.10379T>G p.F3460C Missense 26/29 - 2
2-21229363-T-A c.10377A>T p.E3459D Missense 26/29 - 1
2-21229365-C-T c.10375G>A p.E3459K Missense 26/29 - 6
2-21229366-C-A c.10374G>T p.M3458I Missense 26/29 - 4
2-21229366-C-G c.10374G>C p.M3458I Missense 26/29 - 4
2-21229366-C-T c.10374G>A p.M3458I Missense 26/29 - 10
2-21229367-A-G c.10373T>C p.M3458T Missense 26/29 - 1
2-21229367-CA-C c.10373del p.M3458Rfs*64 Frameshift 26/29 - 1
2-21229368-T-A c.10372A>T p.M3458L Missense 26/29 - 1
2-21229369-G-A c.10371C>T p.S3457= Synonymous 26/29 - 1
2-21229370-G-C c.10370C>G p.S3457C Missense 26/29 - 2
2-21229372-G-A c.10368C>T p.S3456= Synonymous 26/29 - 1
2-21229373-G-A c.10367C>T p.S3456F Missense 26/29 - 1
2-21229373-G-T c.10367C>A p.S3456Y Missense 26/29 - 1
2-21229376-G-A c.10364C>T p.S3455F Missense 26/29 - 3
2-21229377-A-G c.10363T>C p.S3455P Missense 26/29 - 1
2-21229378-G-A c.10362C>T p.V3454= Synonymous 26/29 - 3
2-21229378-G-C c.10362C>G p.V3454= Synonymous 26/29 - 2
2-21229378-G-T c.10362C>A p.V3454= Synonymous 26/29 - 1
2-21229380-C-G c.10360G>C p.V3454L Missense 26/29 - 2
2-21229380-C-CA c.10359dup p.V3454Cfs*8 Frameshift 26/29 - 1
2-21229381-A-C c.10359T>G p.T3453= Synonymous 26/29 - 1
2-21229384-A-G c.10356T>C p.P3452= Synonymous 26/29 - 1
2-21229385-G-A c.10355C>T p.P3452L Missense 26/29 - 1
2-21229385-G-C c.10355C>G p.P3452R Missense 26/29 - 3
2-21229386-G-A c.10354C>T p.P3452S Missense 26/29 - 2
2-21229386-G-C c.10354C>G p.P3452A Missense 26/29 - 2
2-21229389-T-G c.10351A>C p.K3451Q Missense 26/29 - 2
2-21229391-G-A c.10349C>T p.S3450L Missense 26/29 - 1
2-21229393-C-A c.10347G>T p.K3449N Missense 26/29 - 2
2-21229393-C-G c.10347G>C p.K3449N Missense 26/29 - 1
2-21229395-T-A c.10345A>T p.K3449* Nonsense 26/29 - 1
2-21229397-G-T c.10343C>A p.T3448N Missense 26/29 - 4
2-21229401-T-G c.10339A>C p.N3447H Missense 26/29 - 1
2-21229403-C-T c.10337G>A p.G3446E Missense 26/29 - 3
2-21229406-T-C c.10334A>G p.N3445S Missense 26/29 - 1
2-21229407-T-C c.10333A>G p.N3445D Missense 26/29 - 2
2-21229410-G-A c.10330C>T p.L3444F Missense 26/29 - 1
2-21229410-G-T c.10330C>A p.L3444I Missense 26/29 - 1
2-21229413-C-A c.10327G>T p.E3443* Nonsense 26/29 - 1
2-21229414-T-C c.10326A>G p.Q3442= Synonymous 26/29 - 1
2-21229417-C-CCA c.10322_10323insTG p.K3441Nfs*82 Frameshift 26/29 - 1
2-21229419-T-TC c.10320_10321insG p.K3441Efs*5 Frameshift 26/29 - 1
2-21229420-G-A c.10320C>T p.F3440= Synonymous 26/29 - 4
2-21229422-A-C c.10318T>G p.F3440V Missense 26/29 - 3
2-21229423-A-G c.10317T>C p.N3439= Synonymous 26/29 - 1
2-21229426-C-A c.10314G>T p.M3438I Missense 26/29 - 1
2-21229434-A-C c.10306T>G p.L3436V Missense 26/29 - 1
2-21229434-A-G c.10306T>C p.L3436= Synonymous 26/29 - 1
2-21229436-A-G c.10304T>C p.I3435T Missense 26/29 - 1
2-21229437-T-C c.10303A>G p.I3435V Missense 26/29 - 1
2-21229439-G-A c.10301C>T p.P3434L Missense 26/29 - 1
2-21229440-G-A c.10300C>T p.P3434S Missense 26/29 - 3
2-21229445-T-C c.10295A>G p.Q3432R Missense 26/29 - 4
2-21229446-G-C c.10294C>G p.Q3432E Missense 26/29 - 26
2-21229450-T-A c.10290A>T p.K3430N Missense 26/29 - 2
2-21229451-T-G c.10289A>C p.K3430T Missense 26/29 - 1
2-21229452-T-C c.10288A>G p.K3430E Missense 26/29 - 2
2-21229455-T-A c.10285A>T p.T3429S Missense 26/29 - 1
2-21229456-G-A c.10284C>T p.T3428= Synonymous 26/29 - 1
2-21229457-G-A c.10283C>T p.T3428I Missense 26/29 - 2
2-21229457-G-T c.10283C>A p.T3428N Missense 26/29 - 4
2-21229460-G-T c.10280C>A p.T3427K Missense 26/29 - 2
2-21229463-G-A c.10277C>T p.A3426V Missense 26/29 - 2
2-21229472-A-G c.10268T>C p.V3423A Missense 26/29 - 3
2-21229473-C-T c.10267G>A p.V3423M Missense 26/29 - 3
2-21229475-T-C c.10265A>G p.E3422G Missense 26/29 - 2
2-21229476-C-T c.10264G>A p.E3422K Missense 26/29 - 6
2-21229477-C-A c.10263G>T p.M3421I Missense 26/29 - 6
2-21229477-C-G c.10263G>C p.M3421I Missense 26/29 - 5
2-21229477-C-T c.10263G>A p.M3421I Missense 26/29 - 11
2-21229478-A-G c.10262T>C p.M3421T Missense 26/29 - 2
2-21229479-T-C c.10261A>G p.M3421V Missense 26/29 - 1
2-21229480-A-C c.10260T>G p.N3420K Missense 26/29 - 1
2-21229480-A-T c.10260T>A p.N3420K Missense 26/29 - 1
2-21229480-AT-A c.10259del p.N3420Ifs*17 Frameshift 26/29 - 1
2-21229485-T-A c.10255A>T p.K3419* Nonsense 26/29 - 2
2-21229486-C-A c.10254G>T p.T3418= Synonymous 26/29 - 3
2-21229486-C-G c.10254G>C p.T3418= Synonymous 26/29 - 3
2-21229486-C-T c.10254G>A p.T3418= Synonymous 26/29 - 9
2-21229487-G-A c.10253C>T p.T3418M Missense 26/29 - 4
2-21229487-G-T c.10253C>A p.T3418K Missense 26/29 - 3
2-21229489-G-A c.10251C>T p.T3417= Synonymous 26/29 - 1
2-21229489-G-C c.10251C>G p.T3417= Synonymous 26/29 - 1
2-21229489-G-T c.10251C>A p.T3417= Synonymous 26/29 - 3
2-21229494-A-T c.10246T>A p.L3416I Missense 26/29 - 1
2-21229495-G-A c.10245C>T p.S3415= Synonymous 26/29 - 2
2-21229495-G-C c.10245C>G p.S3415R Missense 26/29 - 2
2-21229495-G-T c.10245C>A p.S3415R Missense 26/29 - 2
2-21229497-T-G c.10243A>C p.S3415R Missense 26/29 - 2
2-21229496-C-G c.10244G>C p.S3415T Missense 26/29 - 2
2-21229500-C-T c.10240G>A p.V3414M Missense 26/29 - 1
2-21229502-AG-A c.10238del p.T3413Mfs*2 Frameshift 26/29 - 3
2-21229503-T-C c.10237A>G p.T3413A Missense 26/29 - 1
2-21229507-G-C c.10233C>G p.N3411K Missense 26/29 - 12
2-21229507-G-T c.10233C>A p.N3411K Missense 26/29 - 5
2-21229508-T-C c.10232A>G p.N3411S Missense 26/29 - 3
2-21229511-T-C c.10229A>G p.H3410R Missense 26/29 - 1
2-21229513-A-C c.10227T>G p.S3409R Missense 26/29 - 1
2-21229513-A-T c.10227T>A p.S3409R Missense 26/29 - 2
2-21229515-T-G c.10225A>C p.S3409R Missense 26/29 - 1
2-21229514-C-T c.10226G>A p.S3409N Missense 26/29 - 1
2-21229517-C-A c.10223G>T p.G3408V Missense 26/29 - 1
2-21229518-C-T c.10222G>A p.G3408S Missense 26/29 - 1
2-21229519-C-A c.10221G>T p.E3407D Missense 26/29 - 3
2-21229519-C-G c.10221G>C p.E3407D Missense 26/29 - 1
2-21229524-C-T c.10216G>A p.V3406M Missense 26/29 - 1
2-21229526-A-C c.10214T>G p.F3405C Missense 26/29 - 1
2-21229526-A-G c.10214T>C p.F3405S Missense 26/29 - 2
2-21229527-A-C c.10213T>G p.F3405V Missense 26/29 - 1
2-21229533-T-A c.10207A>T p.N3403Y Missense 26/29 - 2
2-21229534-G-C c.10206C>G p.S3402R Missense 26/29 - 1
2-21229534-G-T c.10206C>A p.S3402R Missense 26/29 - 1
2-21229536-T-G c.10204A>C p.S3402R Missense 26/29 - 1
2-21229535-C-G c.10205G>C p.S3402T Missense 26/29 - 1
2-21229535-C-T c.10205G>A p.S3402N Missense 26/29 - 1
2-21229538-A-G c.10202T>C p.L3401P Missense 26/29 - 1
2-21229547-G-A c.10193C>T p.A3398V Missense 26/29 - 1
2-21229550-G-A c.10190C>T p.T3397I Missense 26/29 - 4
2-21229552-G-A c.10188C>T p.A3396= Synonymous 26/29 - 1
2-21229553-G-T c.10187C>A p.A3396D Missense 26/29 - 1
2-21229554-C-T c.10186G>A p.A3396T Missense 26/29 - 7
2-21229558-C-A c.10182G>T p.K3394N Missense 26/29 - 5
2-21229558-C-G c.10182G>C p.K3394N Missense 26/29 - 2
2-21229559-T-C c.10181A>G p.K3394R Missense 26/29 - 1
2-21229560-T-C c.10180A>G p.K3394E Missense 26/29 - 1
2-21229564-ATCC-A c.10174_10176del p.G3392del InFrameDeletion 26/29 - 1
2-21229565-C-A c.10175G>T p.G3392V Missense 26/29 - 1
2-21229566-C-G c.10174G>C p.G3392R Missense 26/29 - 2
2-21229566-C-T c.10174G>A p.G3392R Missense 26/29 - 2
2-21229567-C-A c.10173G>T p.R3391S Missense 26/29 - 1
2-21229568-C-A c.10172G>T p.R3391M Missense 26/29 - 2
2-21229568-C-G c.10172G>C p.R3391T Missense 26/29 - 1
2-21229568-C-T c.10172G>A p.R3391K Missense 26/29 - 1
2-21229569-T-C c.10171A>G p.R3391G Missense 26/29 - 3
2-21229568-CT-C c.10171del p.R3391Gfs*3 Frameshift 26/29 - 1
2-21229573-T-C c.10167A>G p.R3389= Synonymous 26/29 - 1
2-21229573-T-G c.10167A>C p.R3389S Missense 26/29 - 1
2-21229574-C-G c.10166G>C p.R3389T Missense 26/29 - 3
2-21229575-T-C c.10165A>G p.R3389G Missense 26/29 - 2
2-21229577-G-T c.10163C>A p.T3388K Missense 26/29 - 1
2-21229578-T-C c.10162A>G p.T3388A Missense 26/29 - 1
2-21229586-G-T c.10154C>A p.T3385K Missense 26/29 - 1
2-21229594-C-A c.10146G>T p.E3382D Missense 26/29 - 1
2-21229594-C-G c.10146G>C p.E3382D Missense 26/29 - 1
2-21229594-C-T c.10146G>A p.E3382= Synonymous 26/29 - 3
2-21229595-T-A c.10145A>T p.E3382V Missense 26/29 - 1
2-21229596-C-G c.10144G>C p.E3382Q Missense 26/29 - 3
2-21229597-T-G c.10143A>C p.L3381F Missense 26/29 - 1
2-21229598-A-G c.10142T>C p.L3381S Missense 26/29 - 5
2-21229606-AC-A c.10134del p.Q3378Hfs*4 Frameshift 26/29 - 1
2-21229609-C-T c.10131G>A p.L3377= Synonymous 26/29 - 6
2-21229612-T-A c.10128A>T p.A3376= Synonymous 26/29 - 1
2-21229615-A-C c.10125T>G p.D3375E Missense 26/29 - 1
2-21229617-C-T c.10123G>A p.D3375N Missense 26/29 - 1
2-21229619-A-G c.10121T>C p.I3374T Missense 26/29 - 2
2-21229620-T-A c.10120A>T p.I3374F Missense 26/29 - 1
2-21229623-C-G c.10117G>C p.V3373L Missense 26/29 - 1
2-21229626-A-C c.10114T>G p.S3372A Missense 26/29 - 2
2-21229626-A-G c.10114T>C p.S3372P Missense 26/29 - 1
2-21229629-A-C c.10111T>G p.S3371A Missense 26/29 - 1
2-21229623-CAGATGA-C c.10111_10116del p.S3371_S3372del InFrameDeletion 26/29 - 1
2-21229633-T-C c.10107A>G p.S3369= Synonymous 26/29 - 1
2-21229634-G-A c.10106C>T p.S3369L Missense 26/29 - 1
2-21229634-G-C c.10106C>G p.S3369* Nonsense 26/29 - 2
2-21229634-G-T c.10106C>A p.S3369* Nonsense 26/29 - 3
2-21229637-G-A c.10103C>T p.S3368F Missense 26/29 - 2
2-21229637-G-T c.10103C>A p.S3368Y Missense 26/29 - 1
2-21229642-G-A c.10098C>T p.L3366= Synonymous 26/29 - 3
2-21229644-G-T c.10096C>A p.L3366I Missense 26/29 - 4
2-21229647-G-C c.10093C>G p.H3365D Missense 26/29 - 2
2-21229649-G-T c.10091C>A p.A3364D Missense 26/29 - 1
2-21229650-C-T c.10090G>A p.A3364T Missense 26/29 - 1
2-21229654-A-C c.10086T>G p.I3362M Missense 26/29 - 1
2-21229659-C-G c.10081G>C p.D3361H Missense 26/29 - 1
2-21229664-T-A c.10076A>T p.Q3359L Missense 26/29 - 1
2-21229667-T-A c.10073A>T p.N3358I Missense 26/29 - 1
2-21229666-GT-G c.10073del p.N3358Tfs*24 Frameshift 26/29 - 2
2-21229676-T-C c.10064A>G p.E3355G Missense 26/29 - 1
2-21229677-C-T c.10063G>A p.E3355K Missense 26/29 - 2
2-21229679-G-A c.10061C>T p.A3354V Missense 26/29 - 2
2-21229679-G-C c.10061C>G p.A3354G Missense 26/29 - 6
2-21229680-C-A c.10060G>T p.A3354S Missense 26/29 - 3
2-21229683-T-G c.10057A>C p.N3353H Missense 26/29 - 1
2-21229685-G-A c.10055C>T p.T3352I Missense 26/29 - 8
2-21229686-T-C c.10054A>G p.T3352A Missense 26/29 - 1
2-21229686-T-G c.10054A>C p.T3352P Missense 26/29 - 2
2-21229687-A-T c.10053T>A p.N3351K Missense 26/29 - 1
2-21229691-A-G c.10049T>C p.L3350P Missense 26/29 - 2
2-21229691-A-T c.10049T>A p.L3350Q Missense 26/29 - 2
2-21229698-T-C c.10042A>G p.I3348V Missense 26/29 - 2
2-21229703-C-A c.10037G>T p.S3346I Missense 26/29 - 5
2-21229706-G-A c.10034C>T p.S3345L Missense 26/29 - 3
2-21229710-T-C c.10030A>G p.K3344E Missense 26/29 - 1
2-21229710-T-G c.10030A>C p.K3344Q Missense 26/29 - 1
2-21229714-G-A c.10026C>T p.S3342= Synonymous 26/29 - 1
2-21229714-G-C c.10026C>G p.S3342= Synonymous 26/29 - 1
2-21229714-G-T c.10026C>A p.S3342= Synonymous 26/29 - 1
2-21229715-G-A c.10025C>T p.S3342F Missense 26/29 - 7
2-21229716-A-T c.10024T>A p.S3342T Missense 26/29 - 1
2-21229717-G-C c.10023C>G p.F3341L Missense 26/29 - 1
2-21229717-G-T c.10023C>A p.F3341L Missense 26/29 - 1
2-21229719-A-G c.10021T>C p.F3341L Missense 26/29 - 1
2-21229719-A-T c.10021T>A p.F3341I Missense 26/29 - 1
2-21229722-C-G c.10018G>C p.D3340H Missense 26/29 - 1
2-21229723-A-C c.10017T>G p.Y3339* Nonsense 26/29 - 1
2-21229723-A-T c.10017T>A p.Y3339* Nonsense 26/29 - 1
2-21229725-A-G c.10015T>C p.Y3339H Missense 26/29 - 1
2-21229727-G-A c.10013C>T p.T3338I Missense 26/29 - 1
2-21229727-GT-CA c.10012_10013delinsTG p.T3338C Missense 26/29 - 1
2-21229728-T-C c.10012A>G p.T3338A Missense 26/29 - 1
2-21229731-T-C c.10009A>G p.I3337V Missense 26/29 - 2
2-21229734-T-G c.10006A>C p.N3336H Missense 26/29 - 1
2-21229736-C-A c.10004G>T p.G3335V Missense 26/29 - 1
2-21229737-C-G c.10003G>C p.G3335R Missense 26/29 - 2
2-21229741-G-A c.9999C>T p.A3333= Synonymous 26/29 - 1
2-21229741-G-C c.9999C>G p.A3333= Synonymous 26/29 - 1
2-21229741-G-T c.9999C>A p.A3333= Synonymous 26/29 - 1
2-21229742-G-A c.9998C>T p.A3333V Missense 26/29 - 2
2-21229743-C-A c.9997G>T p.A3333S Missense 26/29 - 1
2-21229743-C-T c.9997G>A p.A3333T Missense 26/29 - 1
2-21229745-G-A c.9995C>T p.P3332L Missense 26/29 - 2
2-21229746-G-A c.9994C>T p.P3332S Missense 26/29 - 2
2-21229747-A-G c.9993T>C p.I3331= Synonymous 26/29 - 1
2-21229747-A-T c.9993T>A p.I3331= Synonymous 26/29 - 1
2-21229749-T-C c.9991A>G p.I3331V Missense 26/29 - 2
2-21229751-A-C c.9989T>G p.F3330C Missense 26/29 - 1
2-21229749-T-TA c.9990dup p.I3331Yfs*10 Frameshift 26/29 - 1
2-21229756-A-T c.9984T>A p.H3328Q Missense 26/29 - 1
2-21229761-T-TA c.9978_9979insT p.S3327* Nonsense 26/29 - 1
2-21229764-T-C c.9976A>G p.I3326V Missense 26/29 - 1
2-21229765-G-T c.9975C>A p.T3325= Synonymous 26/29 - 1
2-21229766-G-A c.9974C>T p.T3325I Missense 26/29 - 1
2-21229769-C-T c.9971G>A p.C3324Y Missense 26/29 - 1
2-21229771-C-T c.9969G>A p.L3323= Synonymous 26/29 - 1
2-21229776-C-T c.9964G>A p.E3322K Missense 26/29 - 1
2-21229778-T-G c.9962A>C p.K3321T Missense 26/29 - 1
2-21229780-G-A c.9960C>T p.F3320= Synonymous 26/29 - 3
2-21229783-A-G c.9957T>C p.D3319= Synonymous 26/29 - 1
2-21229785-C-G c.9955G>C p.D3319H Missense 26/29 - 2
2-21229785-C-T c.9955G>A p.D3319N Missense 26/29 - 1
2-21229787-G-T c.9953C>A p.P3318Q Missense 26/29 - 1
2-21229791-G-A c.9949C>T p.L3317F Missense 26/29 - 1
2-21229792-A-G c.9948T>C p.S3316= Synonymous 26/29 - 1
2-21229793-G-A c.9947C>T p.S3316F Missense 26/29 - 1
2-21229793-G-T c.9947C>A p.S3316Y Missense 26/29 - 1
2-21229795-A-G c.9945T>C p.L3315= Synonymous 26/29 - 1
2-21229797-G-A c.9943C>T p.L3315F Missense 26/29 - 2
2-21229797-G-T c.9943C>A p.L3315I Missense 26/29 - 1
2-21229798-C-CCA c.9941_9942insTG p.K3314Nfs*14 Frameshift 26/29 - 1
2-21229799-T-C c.9941A>G p.K3314R Missense 26/29 - 2
2-21229800-T-G c.9940A>C p.K3314Q Missense 26/29 - 1
2-21229803-G-T c.9937C>A p.L3313I Missense 26/29 - 4
2-21229806-T-C c.9934A>G p.N3312D Missense 26/29 - 1
2-21229812-G-A c.9928C>T p.P3310S Missense 26/29 - 3
2-21229816-A-C c.9924T>G p.H3308Q Missense 26/29 - 1
2-21229816-A-G c.9924T>C p.H3308= Synonymous 26/29 - 2
2-21229816-A-T c.9924T>A p.H3308Q Missense 26/29 - 1
2-21229817-T-G c.9923A>C p.H3308P Missense 26/29 - 3
2-21229818-G-A c.9922C>T p.H3308Y Missense 26/29 - 3
2-21229819-A-G c.9921T>C p.L3307= Synonymous 26/29 - 2
2-21229820-A-G c.9920T>C p.L3307P Missense 26/29 - 1
2-21229821-G-A c.9919C>T p.L3307F Missense 26/29 - 1
2-21229822-G-A c.9918C>T p.V3306= Synonymous 26/29 - 1
2-21229822-G-C c.9918C>G p.V3306= Synonymous 26/29 - 1
2-21229822-G-T c.9918C>A p.V3306= Synonymous 26/29 - 1
2-21229826-G-T c.9914C>A p.P3305Q Missense 26/29 - 1
2-21229828-C-A c.9912G>T p.L3304= Synonymous 26/29 - 1
2-21229828-C-G c.9912G>C p.L3304= Synonymous 26/29 - 1
2-21229828-C-T c.9912G>A p.L3304= Synonymous 26/29 - 1
2-21229830-G-A c.9910C>T p.L3304= Synonymous 26/29 - 1
2-21229831-C-G c.9909G>C p.E3303D Missense 26/29 - 2
2-21229833-C-A c.9907G>T p.E3303* Nonsense 26/29 - 3
2-21229833-C-G c.9907G>C p.E3303Q Missense 26/29 - 3
2-21229833-C-T c.9907G>A p.E3303K Missense 26/29 - 4
2-21229836-A-T c.9904T>A p.L3302I Missense 26/29 - 1
2-21229838-G-A c.9902C>T p.S3301L Missense 26/29 - 1
2-21229843-C-A c.9897G>T p.L3299= Synonymous 26/29 - 1
2-21229843-C-G c.9897G>C p.L3299= Synonymous 26/29 - 1
2-21229843-C-T c.9897G>A p.L3299= Synonymous 26/29 - 1
2-21229845-G-A c.9895C>T p.L3299= Synonymous 26/29 - 3
2-21229848-T-G c.9892A>C p.I3298L Missense 26/29 - 1
2-21229850-A-G c.9890T>C p.L3297S Missense 26/29 - 1
2-21229849-T-C c.9891A>G p.L3297= Synonymous 26/29 - 1
2-21229851-A-C c.9889T>G p.L3297V Missense 26/29 - 1
2-21229851-A-G c.9889T>C p.L3297= Synonymous 26/29 - 1
2-21229853-G-A c.9887C>T p.T3296I Missense 26/29 - 1
2-21229854-T-A c.9886A>T p.T3296S Missense 26/29 - 2
2-21229854-T-C c.9886A>G p.T3296A Missense 26/29 - 2
2-21229857-A-G c.9883T>C p.Y3295H Missense 26/29 - 6
2-21229857-A-T c.9883T>A p.Y3295N Missense 26/29 - 1
2-21229859-G-A c.9881C>T p.S3294L Missense 26/29 - 6
2-21229860-A-G c.9880T>C p.S3294P Missense 26/29 - 11
2-21229863-G-A c.9877C>T p.P3293S Missense 26/29 - 1
2-21229868-C-A c.9872G>T p.R3291L Missense 26/29 - 1
2-21229868-C-T c.9872G>A p.R3291H Missense 26/29 - 6
2-21229869-G-A c.9871C>T p.R3291C Missense 26/29 - 6
2-21229870-G-A c.9870C>T p.V3290= Synonymous 26/29 - 3
2-21229872-C-T c.9868G>A p.V3290I Missense 26/29 - 3
2-21229873-G-A c.9867C>T p.D3289= Synonymous 26/29 - 2
2-21229873-G-C c.9867C>G p.D3289E Missense 26/29 - 1
2-21229873-G-T c.9867C>A p.D3289E Missense 26/29 - 1
2-21229880-C-T c.9860G>A p.G3287D Missense 26/29 - 2
2-21229881-C-T c.9859G>A p.G3287S Missense 26/29 - 4
2-21229884-G-A c.9856C>T p.L3286= Synonymous 26/29 - 1
2-21229885-G-A c.9855C>T p.I3285= Synonymous 26/29 - 3
2-21229885-G-T c.9855C>A p.I3285= Synonymous 26/29 - 1
2-21229888-G-A c.9852C>T p.S3284= Synonymous 26/29 - 1
2-21229889-G-A c.9851C>T p.S3284F Missense 26/29 - 5
2-21229891-G-A c.9849C>T p.F3283= Synonymous 26/29 - 2
2-21229894-A-C c.9846T>G p.S3282R Missense 26/29 - 1
2-21229894-A-T c.9846T>A p.S3282R Missense 26/29 - 1
2-21229895-C-T c.9845G>A p.S3282N Missense 26/29 - 5
2-21229901-A-T c.9839T>A p.M3280K Missense 26/29 - 1
2-21229902-T-A c.9838A>T p.M3280L Missense 26/29 - 2
2-21229902-T-G c.9838A>C p.M3280L Missense 26/29 - 2
2-21229905-CT-C c.9835del p.S3279Afs*8 Frameshift 26/29 - 1
2-21229905-T-C c.9835A>G p.S3279G Missense 26/29 - 24
2-21229910-G-A c.9830C>T p.A3277V Missense 26/29 - 1
2-21229911-C-A c.9829G>T p.A3277S Missense 26/29 - 1
2-21229917-G-A c.9823C>T p.P3275S Missense 26/29 - 3
2-21229922-A-G c.9818T>C p.V3273A Missense 26/29 - 1
2-21229925-T-C c.9815A>G p.Y3272C Missense 26/29 - 2
2-21229928-C-G c.9812G>C p.G3271A Missense 26/29 - 1
2-21229929-C-G c.9811G>C p.G3271R Missense 26/29 - 1
2-21229929-C-T c.9811G>A p.G3271S Missense 26/29 - 4
2-21229930-G-A c.9810C>T p.F3270= Synonymous 26/29 - 10
2-21229933-T-C c.9807A>G p.A3269= Synonymous 26/29 - 1
2-21229934-G-A c.9806C>T p.A3269V Missense 26/29 - 1
2-21229936-C-A c.9804G>T p.S3268= Synonymous 26/29 - 2
2-21229936-C-G c.9804G>C p.S3268= Synonymous 26/29 - 1
2-21229936-C-T c.9804G>A p.S3268= Synonymous 26/29 - 1
2-21229937-G-A c.9803C>T p.S3268L Missense 26/29 - 2
2-21229937-G-T c.9803C>A p.S3268* Nonsense 26/29 - 2
2-21229941-T-A c.9799A>T p.M3267L Missense 26/29 - 1
2-21229941-T-G c.9799A>C p.M3267L Missense 26/29 - 2
2-21229942-C-G c.9798G>C p.E3266D Missense 26/29 - 2
2-21229947-T-C c.9793A>G p.I3265V Missense 26/29 - 2
2-21229949-G-A c.9791C>T p.T3264I Missense 26/29 - 1
2-21229951-G-A c.9789C>T p.F3263= Synonymous 26/29 - 4
2-21229952-A-G c.9788T>C p.F3263S Missense 26/29 - 1
2-21229952-A-T c.9788T>A p.F3263Y Missense 26/29 - 1
2-21229955-G-A c.9785C>T p.P3262L Missense 26/29 - 2
2-21229956-G-A c.9784C>T p.P3262S Missense 26/29 - 2
2-21229961-A-G c.9779T>C p.V3260A Missense 26/29 - 2
2-21229965-C-A c.9775G>T p.E3259* Nonsense 26/29 - 1
2-21229967-A-G c.9773T>C p.V3258A Missense 26/29 - 2
2-21229970-T-C c.9770A>G p.N3257S Missense 26/29 - 2
2-21229976-A-G c.9764T>C p.V3255A Missense 26/29 - 1
2-21229976-A-T c.9764T>A p.V3255D Missense 26/29 - 3
2-21229977-C-T c.9763G>A p.V3255I Missense 26/29 - 1
2-21229980-G-T c.9760C>A p.P3254T Missense 26/29 - 1
2-21229980-GA-G c.9759del p.P3254Qfs*12 Frameshift 26/29 - 1
2-21229982-A-G c.9758T>C p.V3253A Missense 26/29 - 3
2-21229985-G-GT c.9754dup p.T3252Nfs*8 Frameshift 26/29 - 1
2-21229988-T-C c.9752A>G p.Y3251C Missense 26/29 - 1
2-21229989-A-T c.9751T>A p.Y3251N Missense 26/29 - 1
2-21229991-C-A c.9749G>T p.G3250V Missense 26/29 - 1
2-21229991-C-T c.9749G>A p.G3250E Missense 26/29 - 4
2-21229995-G-T c.9745C>A p.P3249T Missense 26/29 - 1
2-21230001-G-A c.9739C>T p.Q3247* Nonsense 26/29 - 5
2-21230001-G-C c.9739C>G p.Q3247E Missense 26/29 - 4
2-21230001-G-T c.9739C>A p.Q3247K Missense 26/29 - 1
2-21230002-A-C c.9738T>G p.F3246L Missense 26/29 - 3
2-21230004-A-G c.9736T>C p.F3246L Missense 26/29 - 1
2-21230006-G-A c.9734C>T p.T3245I Missense 26/29 - 1
2-21230008-C-T c.9732G>A p.R3244= Synonymous 26/29 - 1
2-21230012-G-C c.9728C>G p.P3243R Missense 26/29 - 1
2-21230013-G-A c.9727C>T p.P3243S Missense 26/29 - 2
2-21230014-G-A c.9726C>T p.L3242= Synonymous 26/29 - 5
2-21230014-G-C c.9726C>G p.L3242= Synonymous 26/29 - 1
2-21230014-G-T c.9726C>A p.L3242= Synonymous 26/29 - 1
2-21230017-C-T c.9723G>A p.E3241= Synonymous 26/29 - 1
2-21230020-G-A c.9720C>T p.D3240= Synonymous 26/29 - 2
2-21230022-C-T c.9718G>A p.D3240N Missense 26/29 - 8
2-21230024-T-G c.9716A>C p.H3239P Missense 26/29 - 1
2-21230025-G-A c.9715C>T p.H3239Y Missense 26/29 - 7
2-21230026-A-C c.9714T>G p.S3238= Synonymous 26/29 - 1
2-21230026-A-G c.9714T>C p.S3238= Synonymous 26/29 - 1
2-21230026-A-T c.9714T>A p.S3238= Synonymous 26/29 - 2
2-21230027-G-A c.9713C>T p.S3238F Missense 26/29 - 2
2-21230027-G-T c.9713C>A p.S3238Y Missense 26/29 - 2
2-21230032-T-C c.9708A>G p.E3236= Synonymous 26/29 - 1
2-21230034-C-G c.9706G>C p.E3236Q Missense 26/29 - 1
2-21230036-G-T c.9704C>A p.A3235D Missense 26/29 - 2
2-21230037-C-T c.9703G>A p.A3235T Missense 26/29 - 3
2-21230038-T-G c.9702A>C p.K3234N Missense 26/29 - 1
2-21230042-T-A c.9698A>T p.Y3233F Missense 26/29 - 1
2-21230042-T-C c.9698A>G p.Y3233C Missense 26/29 - 3
2-21230046-T-C c.9694A>G p.K3232E Missense 26/29 - 4
2-21230047-A-C c.9693T>G p.D3231E Missense 26/29 - 1
2-21230048-T-C c.9692A>G p.D3231G Missense 26/29 - 3
2-21230049-C-T c.9691G>A p.D3231N Missense 26/29 - 1
2-21230051-A-C c.9689T>G p.F3230C Missense 26/29 - 1
2-21230051-A-G c.9689T>C p.F3230S Missense 26/29 - 1
2-21230054-T-C c.9686A>G p.K3229R Missense 26/29 - 4
2-21230054-T-G c.9686A>C p.K3229T Missense 26/29 - 2
2-21230056-A-G c.9684T>C p.I3228= Synonymous 26/29 - 1
2-21230058-T-G c.9682A>C p.I3228L Missense 26/29 - 1
2-21230060-T-G c.9680A>C p.K3227T Missense 26/29 - 1
2-21230063-G-T c.9677C>A p.T3226K Missense 26/29 - 1
2-21230066-T-C c.9674A>G p.E3225G Missense 26/29 - 1
2-21230067-C-A c.9673G>T p.E3225* Nonsense 26/29 - 3
2-21230067-C-T c.9673G>A p.E3225K Missense 26/29 - 9
2-21230069-T-TCTTCTTCATATTCTGCACTGAAG c.9670_9671insCTTCAGTGCAGAATATGAAGAAG p.N3224Tfs*50 Frameshift 26/29 - 1
2-21230072-T-C c.9668A>G p.Y3223C Missense 26/29 - 1
2-21230073-A-G c.9667T>C p.Y3223H Missense 26/29 - 3
2-21230074-G-A c.9666C>T p.S3222= Synonymous 26/29 - 5
2-21230074-G-C c.9666C>G p.S3222= Synonymous 26/29 - 1
2-21230074-G-T c.9666C>A p.S3222= Synonymous 26/29 - 1
2-21230075-G-A c.9665C>T p.S3222F Missense 26/29 - 7
2-21230076-A-G c.9664T>C p.S3222P Missense 26/29 - 1
2-21230087-A-C c.9653T>G p.F3218C Missense 26/29 - 1
2-21230090-T-G c.9650A>C p.D3217A Missense 26/29 - 1
2-21230093-A-G c.9647T>C p.L3216S Missense 26/29 - 1
2-21230095-AT-A c.9645del p.L3216* Frameshift 26/29 - 1
2-21230097-C-A c.9643G>T p.A3215S Missense 26/29 - 1
2-21230099-T-C c.9641A>G p.N3214S Missense 26/29 - 2
2-21230101-G-C c.9639C>G p.N3213K Missense 26/29 - 1
2-21230101-G-T c.9639C>A p.N3213K Missense 26/29 - 2
2-21230102-T-C c.9638A>G p.N3213S Missense 26/29 - 7
2-21230103-TTC-T c.9635_9636del p.R3212Kfs*12 Frameshift 26/29 - 2
2-21230105-C-G c.9635G>C p.R3212T Missense 26/29 - 1
2-21230105-C-T c.9635G>A p.R3212K Missense 26/29 - 6
2-21230105-C-CT c.9634dup p.R3212Kfs*13 Frameshift 26/29 - 1
2-21230107-G-T c.9633C>A p.N3211K Missense 26/29 - 1
2-21230108-T-C c.9632A>G p.N3211S Missense 26/29 - 3
2-21230107-G-GT c.9632dup p.N3211Kfs*14 Frameshift 26/29 - 5
2-21230107-GT-G c.9632del p.N3211Tfs*6 Frameshift 26/29 - 1
2-21230114-T-C c.9626A>G p.E3209G Missense 26/29 - 1
2-21230115-C-T c.9625G>A p.E3209K Missense 26/29 - 3
2-21230118-A-C c.9622T>G p.F3208V Missense 26/29 - 1
2-21230122-CCT-ATG c.9616_9618delinsCAT p.R3206H Missense 26/29 - 1
2-21230128-A-T c.9612T>A p.F3204L Missense 26/29 - 4
2-21230128-A-C c.9612T>G p.F3204L Missense 26/29 - 3
2-21230130-A-G c.9610T>C p.F3204L Missense 26/29 - 3
2-21230131-G-A c.9609C>T p.S3203= Synonymous 26/29 - 2
2-21230132-G-A c.9608C>T p.S3203F Missense 26/29 - 3
2-21230132-G-C c.9608C>G p.S3203C Missense 26/29 - 2
2-21230132-G-T c.9608C>A p.S3203Y Missense 26/29 - 1
2-21230141-C-T c.9599G>A p.S3200N Missense 26/29 - 1
2-21230145-G-A c.9595C>T p.Q3199* Nonsense 26/29 - 1
2-21230148-CTGAT-C c.9589_9592del p.I3197Vfs*19 Frameshift 26/29 - 1
2-21230151-T-C c.9589A>G p.I3197V Missense 26/29 - 4
2-21230155-C-A c.9585G>T p.E3195D Missense 26/29 - 2
2-21230155-C-G c.9585G>C p.E3195D Missense 26/29 - 4
2-21230155-C-T c.9585G>A p.E3195= Synonymous 26/29 - 1
2-21230157-C-G c.9583G>C p.E3195Q Missense 26/29 - 3
2-21230159-C-A c.9581G>T p.C3194F Missense 26/29 - 3
2-21230162-A-C c.9578T>G p.L3193R Missense 26/29 - 1
2-21230166-C-A c.9574G>T p.V3192L Missense 26/29 - 1
2-21230168-G-A c.9572C>T p.A3191V Missense 26/29 - 1
2-21230169-C-T c.9571G>A p.A3191T Missense 26/29 - 2
2-21230170-C-T c.9570G>A p.L3190= Synonymous 26/29 - 1
2-21230172-A-G c.9568T>C p.L3190= Synonymous 26/29 - 1
2-21230174-G-A c.9566C>T p.P3189L Missense 26/29 - 5
2-21230175-G-A c.9565C>T p.P3189S Missense 26/29 - 9
2-21230180-G-T c.9560C>A p.T3187K Missense 26/29 - 1
2-21230185-G-A c.9555C>T p.S3185= Synonymous 26/29 - 2
2-21230186-G-A c.9554C>T p.S3185F Missense 26/29 - 2
2-21230189-T-A c.9551A>T p.H3184L Missense 26/29 - 1
2-21230190-G-A c.9550C>T p.H3184Y Missense 26/29 - 1
2-21230190-G-T c.9550C>A p.H3184N Missense 26/29 - 1
2-21230191-C-A c.9549G>T p.R3183S Missense 26/29 - 2
2-21230191-C-G c.9549G>C p.R3183S Missense 26/29 - 1
2-21230193-T-C c.9547A>G p.R3183G Missense 26/29 - 1
2-21230194-G-A c.9546C>T p.H3182= Synonymous 26/29 - 1
2-21230195-T-C c.9545A>G p.H3182R Missense 26/29 - 1
2-21230196-G-T c.9544C>A p.H3182N Missense 26/29 - 5
2-21230201-T-C c.9539A>G p.N3180S Missense 26/29 - 1
2-21230205-T-C c.9535A>G p.K3179E Missense 26/29 - 1
2-21230206-C-A c.9534G>T p.K3178N Missense 26/29 - 4
2-21230206-C-G c.9534G>C p.K3178N Missense 26/29 - 5
2-21230207-T-G c.9533A>C p.K3178T Missense 26/29 - 1
2-21230211-A-G c.9529T>C p.Y3177H Missense 26/29 - 2
2-21230211-A-T c.9529T>A p.Y3177N Missense 26/29 - 1
2-21230212-C-T c.9528G>A p.Q3176= Synonymous 26/29 - 4
2-21230215-A-T c.9525T>A p.A3175= Synonymous 26/29 - 1
2-21230216-G-A c.9524C>T p.A3175V Missense 26/29 - 1
2-21230217-C-A c.9523G>T p.A3175S Missense 26/29 - 1
2-21230217-C-G c.9523G>C p.A3175P Missense 26/29 - 2
2-21230217-GC-G c.9523del p.A3175Lfs*42 Frameshift 26/29 - 2
2-21230218-T-C c.9522A>G p.K3174= Synonymous 26/29 - 1
2-21230224-A-G c.9516T>C p.S3172= Synonymous 26/29 - 3
2-21230225-C-T c.9515G>A p.S3172N Missense 26/29 - 1
2-21230238-A-T c.9502T>A p.S3168T Missense 26/29 - 3
2-21230240-T-G c.9500A>C p.Q3167P Missense 26/29 - 3
2-21230246-G-C c.9494C>G p.T3165R Missense 26/29 - 1
2-21230246-G-T c.9494C>A p.T3165K Missense 26/29 - 2
2-21230247-T-C c.9493A>G p.T3165A Missense 26/29 - 2
2-21230248-C-A c.9492G>T p.T3164= Synonymous 26/29 - 1
2-21230248-C-G c.9492G>C p.T3164= Synonymous 26/29 - 1
2-21230248-C-T c.9492G>A p.T3164= Synonymous 26/29 - 1
2-21230249-G-A c.9491C>T p.T3164M Missense 26/29 - 6
2-21230252-T-G c.9488A>C p.K3163T Missense 26/29 - 3
2-21230257-G-T c.9483C>A p.F3161L Missense 26/29 - 3
2-21230258-A-G c.9482T>C p.F3161S Missense 26/29 - 3
2-21230257-G-C c.9483C>G p.F3161L Missense 26/29 - 2
2-21230259-A-G c.9481T>C p.F3161L Missense 26/29 - 2
2-21230262-C-T c.9478G>A p.E3160K Missense 26/29 - 8
2-21230263-C-A c.9477G>T p.K3159N Missense 26/29 - 2
2-21230263-C-G c.9477G>C p.K3159N Missense 26/29 - 1
2-21230263-C-T c.9477G>A p.K3159= Synonymous 26/29 - 6
2-21230264-T-A c.9476A>T p.K3159M Missense 26/29 - 1
2-21230264-T-C c.9476A>G p.K3159R Missense 26/29 - 1
2-21230266-C-A c.9474G>T p.L3158F Missense 26/29 - 2
2-21230266-C-G c.9474G>C p.L3158F Missense 26/29 - 3
2-21230266-C-T c.9474G>A p.L3158= Synonymous 26/29 - 1
2-21230267-A-G c.9473T>C p.L3158S Missense 26/29 - 2
2-21230269-G-A c.9471C>T p.G3157= Synonymous 26/29 - 3
2-21230269-G-C c.9471C>G p.G3157= Synonymous 26/29 - 3
2-21230269-G-T c.9471C>A p.G3157= Synonymous 26/29 - 4
2-21230270-C-T c.9470G>A p.G3157D Missense 26/29 - 2
2-21230271-C-G c.9469G>C p.G3157R Missense 26/29 - 1
2-21230271-C-T c.9469G>A p.G3157S Missense 26/29 - 5
2-21230272-T-A c.9468A>T p.T3156= Synonymous 26/29 - 1
2-21230272-T-C c.9468A>G p.T3156= Synonymous 26/29 - 1
2-21230272-T-G c.9468A>C p.T3156= Synonymous 26/29 - 1
2-21230273-G-A c.9467C>T p.T3156I Missense 26/29 - 2
2-21230273-G-T c.9467C>A p.T3156K Missense 26/29 - 3
2-21230275-T-C c.9465A>G p.K3155= Synonymous 26/29 - 3
2-21230278-T-A c.9462A>T p.E3154D Missense 26/29 - 1
2-21230278-T-G c.9462A>C p.E3154D Missense 26/29 - 1
2-21230273-G-GT c.9466dup p.T3156Nfs*15 Frameshift 26/29 - 5
2-21230280-C-CA c.9459_9460insT p.E3154* Nonsense 26/29 - 3
2-21230280-C-T c.9460G>A p.E3154K Missense 26/29 - 8
2-21230281-CC-AA c.9458_9459delinsTT p.W3153F Missense 26/29 - 1
2-21230279-TC-T c.9460del p.E3154Kfs*5 Frameshift 26/29 - 1
2-21230281-C-T c.9459G>A p.W3153* Nonsense 26/29 - 1
2-21230282-C-A c.9458G>T p.W3153L Missense 26/29 - 1
2-21230282-C-T c.9458G>A p.W3153* Nonsense 26/29 - 1
2-21230283-A-G c.9457T>C p.W3153R Missense 26/29 - 3
2-21230283-A-T c.9457T>A p.W3153R Missense 26/29 - 2
2-21230284-T-C c.9456A>G p.L3152= Synonymous 26/29 - 1
2-21230286-G-A c.9454C>T p.L3152= Synonymous 26/29 - 1
2-21230286-G-C c.9454C>G p.L3152V Missense 26/29 - 2
2-21230288-G-A c.9452C>T p.S3151F Missense 26/29 - 3
2-21230288-G-C c.9452C>G p.S3151C Missense 26/29 - 2
2-21230289-A-C c.9451T>G p.S3151A Missense 26/29 - 1
2-21230290-G-A c.9450C>T p.F3150= Synonymous 26/29 - 2
2-21230291-A-G c.9449T>C p.F3150S Missense 26/29 - 1
2-21230290-G-C c.9450C>G p.F3150L Missense 26/29 - 1
2-21230290-G-T c.9450C>A p.F3150L Missense 26/29 - 1
2-21230292-A-G c.9448T>C p.F3150L Missense 26/29 - 3
2-21230293-A-C c.9447T>G p.D3149E Missense 26/29 - 1
2-21230293-A-T c.9447T>A p.D3149E Missense 26/29 - 1
2-21230294-T-A c.9446A>T p.D3149V Missense 26/29 - 2
2-21230295-C-A c.9445G>T p.D3149Y Missense 26/29 - 4
2-21230295-C-G c.9445G>C p.D3149H Missense 26/29 - 1
2-21230295-C-T c.9445G>A p.D3149N Missense 26/29 - 7
2-21230299-C-A c.9441G>T p.L3147= Synonymous 26/29 - 1
2-21230299-C-G c.9441G>C p.L3147= Synonymous 26/29 - 1
2-21230299-C-T c.9441G>A p.L3147= Synonymous 26/29 - 1
2-21230301-G-A c.9439C>T p.L3147= Synonymous 26/29 - 1
2-21230304-G-T c.9436C>A p.P3146T Missense 26/29 - 1
2-21230306-G-A c.9434C>T p.P3145L Missense 26/29 - 2
2-21230310-T-A c.9430A>T p.T3144S Missense 26/29 - 1
2-21230310-T-C c.9430A>G p.T3144A Missense 26/29 - 2
2-21230310-T-G c.9430A>C p.T3144P Missense 26/29 - 1
2-21230312-G-A c.9428C>T p.T3143I Missense 26/29 - 2
2-21230314-G-A c.9426C>T p.I3142= Synonymous 26/29 - 1
2-21230314-G-C c.9426C>G p.I3142M Missense 26/29 - 1
2-21230316-T-C c.9424A>G p.I3142V Missense 26/29 - 2
2-21230319-T-C c.9421A>G p.I3141V Missense 26/29 - 1
2-21230323-G-T c.9417C>A p.Y3139* Nonsense 26/29 - 2
2-21230325-A-G c.9415T>C p.Y3139H Missense 26/29 - 2
2-21230327-G-A c.9413C>T p.P3138L Missense 26/29 - 2
2-21230328-G-C c.9412C>G p.P3138A Missense 26/29 - 3
2-21230333-C-T c.9407G>A p.R3136H Missense 26/29 - 8
2-21230334-G-A c.9406C>T p.R3136C Missense 26/29 - 18
2-21230336-A-T c.9404T>A p.M3135K Missense 26/29 - 3
2-21230342-G-A c.9398C>T p.P3133L Missense 26/29 - 2
2-21230343-G-A c.9397C>T p.P3133S Missense 26/29 - 7
2-21230345-A-T c.9395T>A p.I3132N Missense 26/29 - 1
2-21230350-T-C c.9390A>G p.L3130= Synonymous 26/29 - 1
2-21230352-A-G c.9388T>C p.L3130= Synonymous 26/29 - 1
2-21230353-A-C c.9387T>G p.P3129= Synonymous 26/29 - 1
2-21230353-A-T c.9387T>A p.P3129= Synonymous 26/29 - 1
2-21230354-G-A c.9386C>T p.P3129L Missense 26/29 - 1
2-21230354-G-T c.9386C>A p.P3129H Missense 26/29 - 1
2-21230355-G-A c.9385C>T p.P3129S Missense 26/29 - 4
2-21230355-G-C c.9385C>G p.P3129A Missense 26/29 - 1
2-21230356-A-T c.9384T>A p.I3128= Synonymous 26/29 - 1
2-21230360-T-A c.9380A>T p.N3127I Missense 26/29 - 1
2-21230369-T-C c.9371A>G p.D3124G Missense 26/29 - 3
2-21230373-G-A c.9367C>T p.L3123= Synonymous 26/29 - 5
2-21230373-G-C c.9367C>G p.L3123V Missense 26/29 - 2
2-21230374-A-T c.9366T>A p.N3122K Missense 26/29 - 1
2-21230379-C-A c.9361G>T p.A3121S Missense 26/29 - 2
2-21230379-C-T c.9361G>A p.A3121T Missense 26/29 - 3
2-21230382-C-A c.9358G>T p.E3120* Nonsense 26/29 - 4
2-21230384-C-T c.9356G>A p.G3119E Missense 26/29 - 1
2-21230391-T-C c.9349A>G p.I3117V Missense 26/29 - 1
2-21230393-C-T c.9347G>A p.G3116E Missense 26/29 - 5
2-21230394-C-A c.9346G>T p.G3116* Nonsense 26/29 - 4
2-21230397-C-T c.9343G>A p.V3115I Missense 26/29 - 1
2-21230400-G-T c.9340C>A p.H3114N Missense 26/29 - 1
2-21230402-G-A c.9338C>T p.A3113V Missense 26/29 - 2
2-21230402-G-C c.9338C>G p.A3113G Missense 26/29 - 1
2-21230403-C-A c.9337G>T p.A3113S Missense 26/29 - 1
2-21230404-C-A c.9336G>T p.E3112D Missense 26/29 - 1
2-21230404-C-T c.9336G>A p.E3112= Synonymous 26/29 - 2
2-21230407-C-T c.9333G>A p.M3111I Missense 26/29 - 2
2-21230409-T-A c.9331A>T p.M3111L Missense 26/29 - 1
2-21230411-A-T c.9329T>A p.I3110N Missense 26/29 - 4
2-21230416-C-T c.9324G>A p.E3108= Synonymous 26/29 - 1
2-21230418-C-T c.9322G>A p.E3108K Missense 26/29 - 5
2-21230419-G-A c.9321C>T p.N3107= Synonymous 26/29 - 5
2-21230419-G-C c.9321C>G p.N3107K Missense 26/29 - 3
2-21230418-CGTT-C c.9319_9321del p.N3107del InFrameDeletion 26/29 - 1
2-21230423-T-C c.9317A>G p.N3106S Missense 26/29 - 2
2-21230426-C-G c.9314G>C p.G3105A Missense 26/29 - 2
2-21230426-C-T c.9314G>A p.G3105E Missense 26/29 - 5
2-21230433-A-C c.9307T>G p.S3103A Missense 26/29 - 1
2-21230434-G-T c.9306C>A p.F3102L Missense 26/29 - 12
2-21230434-G-C c.9306C>G p.F3102L Missense 26/29 - 9
2-21230436-A-G c.9304T>C p.F3102L Missense 26/29 - 9
2-21230440-T-A c.9300A>T p.Q3100H Missense 26/29 - 1
2-21230440-T-G c.9300A>C p.Q3100H Missense 26/29 - 1
2-21230442-G-C c.9298C>G p.Q3100E Missense 26/29 - 1
2-21230442-G-T c.9298C>A p.Q3100K Missense 26/29 - 1
2-21230444-T-A c.9296A>T p.N3099I Missense 26/29 - 1
2-21230446-G-A c.9294C>T p.Y3098= Synonymous 26/29 - 2
2-21230447-T-C c.9293A>G p.Y3098C Missense 26/29 - 2
2-21230450-T-C c.9290A>G p.K3097R Missense 26/29 - 1
2-21230450-T-G c.9290A>C p.K3097T Missense 26/29 - 4
2-21230453-T-C c.9287A>G p.Y3096C Missense 26/29 - 5
2-21230455-C-A c.9285G>T p.Q3095H Missense 26/29 - 1
2-21230455-C-G c.9285G>C p.Q3095H Missense 26/29 - 1
2-21230456-T-C c.9284A>G p.Q3095R Missense 26/29 - 3
2-21230461-G-T c.9279C>A p.F3093L Missense 26/29 - 1
2-21230469-C-T c.9271G>A p.A3091T Missense 26/29 - 1
2-21230470-A-G c.9270T>C p.S3090= Synonymous 26/29 - 1
2-21230478-G-A c.9262C>T p.Q3088* Nonsense 26/29 - 1
2-21230478-G-T c.9262C>A p.Q3088K Missense 26/29 - 5
2-21230480-C-A c.9260G>T p.W3087L Missense 26/29 - 2
2-21230480-C-T c.9260G>A p.W3087* Nonsense 26/29 - 5
2-21230482-A-G c.9258T>C p.S3086= Synonymous 26/29 - 2
2-21230483-C-G c.9257G>C p.S3086T Missense 26/29 - 1
2-21230482-ACTTG-A c.9254_9257del p.A3085Vfs*4 Frameshift 26/29 - 2
2-21230491-C-T c.9249G>A p.Q3083= Synonymous 26/29 - 1
2-21230492-T-A c.9248A>T p.Q3083L Missense 26/29 - 1
2-21230494-G-A c.9246C>T p.A3082= Synonymous 26/29 - 1
2-21230494-G-C c.9246C>G p.A3082= Synonymous 26/29 - 1
2-21230494-G-T c.9246C>A p.A3082= Synonymous 26/29 - 2
2-21230498-C-A c.9242G>T p.S3081I Missense 26/29 - 2
2-21230498-C-G c.9242G>C p.S3081T Missense 26/29 - 4
2-21230498-C-T c.9242G>A p.S3081N Missense 26/29 - 4
2-21230501-G-T c.9239C>A p.P3080H Missense 26/29 - 1
2-21230513-A-C c.9227T>G p.L3076R Missense 26/29 - 1
2-21230514-G-A c.9226C>T p.L3076= Synonymous 26/29 - 2
2-21230514-G-T c.9226C>A p.L3076M Missense 26/29 - 4
2-21230515-T-A c.9225A>T p.A3075= Synonymous 26/29 - 1
2-21230515-T-C c.9225A>G p.A3075= Synonymous 26/29 - 1
2-21230515-T-G c.9225A>C p.A3075= Synonymous 26/29 - 1
2-21230516-G-T c.9224C>A p.A3075E Missense 26/29 - 1
2-21230517-C-T c.9223G>A p.A3075T Missense 26/29 - 9
2-21230519-T-C c.9221A>G p.Y3074C Missense 26/29 - 3
2-21230519-T-G c.9221A>C p.Y3074S Missense 26/29 - 2
2-21230523-T-A c.9217A>T p.N3073Y Missense 26/29 - 3
2-21230523-T-C c.9217A>G p.N3073D Missense 26/29 - 2
2-21230525-T-C c.9215A>G p.N3072S Missense 26/29 - 1
2-21230528-A-T c.9212T>A p.L3071Q Missense 26/29 - 1
2-21230530-G-A c.9210C>T p.F3070= Synonymous 26/29 - 4
2-21230535-C-A c.9205G>T p.D3069Y Missense 26/29 - 1
2-21230536-T-A c.9204A>T p.I3068= Synonymous 26/29 - 1
2-21230536-T-G c.9204A>C p.I3068= Synonymous 26/29 - 1
2-21230538-T-C c.9202A>G p.I3068V Missense 26/29 - 2
2-21230539-C-G c.9201G>C p.K3067N Missense 26/29 - 1
2-21230539-C-T c.9201G>A p.K3067= Synonymous 26/29 - 1
2-21230540-T-A c.9200A>T p.K3067M Missense 26/29 - 1
2-21230539-CT-C c.9200del p.K3067Rfs*2 Frameshift 26/29 - 4
2-21230542-C-T c.9198G>A p.G3066= Synonymous 26/29 - 2
2-21230547-T-A c.9193A>T p.T3065S Missense 26/29 - 2
2-21230547-T-C c.9193A>G p.T3065A Missense 26/29 - 2
2-21230549-A-C c.9191T>G p.L3064* Nonsense 26/29 - 1
2-21230550-A-T c.9190T>A p.L3064I Missense 26/29 - 2
2-21230555-A-C c.9185T>G p.L3062* Nonsense 26/29 - 3
2-21230555-A-T c.9185T>A p.L3062* Nonsense 26/29 - 2
2-21230558-G-A c.9182C>T p.P3061L Missense 26/29 - 1
2-21230558-G-T c.9182C>A p.P3061Q Missense 26/29 - 1
2-21230559-G-A c.9181C>T p.P3061S Missense 26/29 - 4
2-21230565-G-A c.9175C>T p.R3059C Missense 26/29 - 18
2-21230567-A-G c.9173T>C p.V3058A Missense 26/29 - 1
2-21230568-C-T c.9172G>A p.V3058I Missense 26/29 - 1
2-21230570-T-A c.9170A>T p.K3057I Missense 26/29 - 3
2-21230570-T-C c.9170A>G p.K3057R Missense 26/29 - 1
2-21230572-C-A c.9168G>T p.L3056F Missense 26/29 - 2
2-21230572-C-T c.9168G>A p.L3056= Synonymous 26/29 - 3
2-21230574-A-G c.9166T>C p.L3056= Synonymous 26/29 - 1
2-21230576-T-C c.9164A>G p.N3055S Missense 26/29 - 1
2-21230578-CCC-GCT c.9160_9162delinsAGC p.G3054S Missense 26/29 - 1
2-21230579-CC-GT c.9160_9161delinsAC p.G3054T Missense 26/29 - 1
2-21230580-C-A c.9160G>T p.G3054W Missense 26/29 - 1
2-21230582-T-C c.9158A>G p.E3053G Missense 26/29 - 1
2-21230583-C-T c.9157G>A p.E3053K Missense 26/29 - 1
2-21230586-T-G c.9154A>C p.N3052H Missense 26/29 - 2
2-21230588-T-C c.9152A>G p.N3051S Missense 26/29 - 3
2-21230587-GT-G c.9152del p.N3051Tfs*6 Frameshift 26/29 - 1
2-21230591-G-A c.9149C>T p.T3050I Missense 26/29 - 3
2-21230591-G-C c.9149C>G p.T3050R Missense 26/29 - 1
2-21230598-C-T c.9142G>A p.A3048T Missense 26/29 - 3
2-21230599-C-A c.9141G>T p.T3047= Synonymous 26/29 - 1
2-21230599-C-G c.9141G>C p.T3047= Synonymous 26/29 - 1
2-21230599-C-T c.9141G>A p.T3047= Synonymous 26/29 - 4
2-21230599-C-CGAGA c.9140_9141insTCTC p.A3048Lfs*7 Frameshift 26/29 - 1
2-21230600-G-A c.9140C>T p.T3047M Missense 26/29 - 7
2-21230600-G-C c.9140C>G p.T3047R Missense 26/29 - 6
2-21230601-T-TACCATTC c.9138_9139insGAATGGT p.T3047Efs*9 Frameshift 26/29 - 1
2-21230604-T-C c.9136A>G p.I3046V Missense 26/29 - 1
2-21230611-T-C c.9129A>G p.P3043= Synonymous 26/29 - 1
2-21230622-A-G c.9118T>C p.S3040P Missense 26/29 - 1
2-21230620-TGAAAA-T c.9115_9119del p.F3039Sfs*5 Frameshift 26/29 - 2
2-21230629-A-T c.9111T>A p.L3037= Synonymous 26/29 - 3
2-21230631-G-C c.9109C>G p.L3037V Missense 26/29 - 1
2-21230631-G-T c.9109C>A p.L3037I Missense 26/29 - 1
2-21230632-A-C c.9108T>G p.S3036= Synonymous 26/29 - 1
2-21230632-A-G c.9108T>C p.S3036= Synonymous 26/29 - 1
2-21230632-A-T c.9108T>A p.S3036= Synonymous 26/29 - 1
2-21230633-G-A c.9107C>T p.S3036F Missense 26/29 - 1
2-21230633-G-T c.9107C>A p.S3036Y Missense 26/29 - 7
2-21230634-A-G c.9106T>C p.S3036P Missense 26/29 - 1
2-21230635-A-G c.9105T>C p.N3035= Synonymous 26/29 - 3
2-21230638-T-C c.9102A>G p.K3034= Synonymous 26/29 - 1
2-21230640-T-C c.9100A>G p.K3034E Missense 26/29 - 1
2-21230641-C-A c.9099G>T p.L3033F Missense 26/29 - 1
2-21230641-C-G c.9099G>C p.L3033F Missense 26/29 - 1
2-21230641-C-T c.9099G>A p.L3033= Synonymous 26/29 - 2
2-21230645-G-A c.9095C>T p.T3032I Missense 26/29 - 1
2-21230645-G-T c.9095C>A p.T3032N Missense 26/29 - 2
2-21230648-C-A c.9092G>T p.G3031V Missense 26/29 - 1
2-21230648-C-T c.9092G>A p.G3031E Missense 26/29 - 1
2-21230649-C-G c.9091G>C p.G3031R Missense 26/29 - 1
2-21230649-C-T c.9091G>A p.G3031R Missense 26/29 - 1
2-21230650-A-G c.9090T>C p.I3030= Synonymous 26/29 - 1
2-21230650-A-T c.9090T>A p.I3030= Synonymous 26/29 - 1
2-21230652-T-C c.9088A>G p.I3030V Missense 26/29 - 1
2-21230655-C-A c.9085G>T p.V3029F Missense 26/29 - 2
2-21230655-C-T c.9085G>A p.V3029I Missense 26/29 - 1
2-21230656-C-A c.9084G>T p.K3028N Missense 26/29 - 1
2-21230656-C-G c.9084G>C p.K3028N Missense 26/29 - 1
2-21230656-C-T c.9084G>A p.K3028= Synonymous 26/29 - 1
2-21230660-C-T c.9080G>A p.G3027E Missense 26/29 - 4
2-21230661-C-A c.9079G>T p.G3027* Nonsense 26/29 - 1
2-21230661-C-G c.9079G>C p.G3027R Missense 26/29 - 1
2-21230661-C-T c.9079G>A p.G3027R Missense 26/29 - 2
2-21230663-T-A c.9077A>T p.N3026I Missense 26/29 - 3
2-21230663-T-C c.9077A>G p.N3026S Missense 26/29 - 1
2-21230668-A-T c.9072T>A p.H3024Q Missense 26/29 - 1
2-21230670-GAGCATC-G c.9064_9069del p.D3022_A3023del InFrameDeletion 26/29 - 1
2-21230670-GAGC-G c.9067_9069del p.A3023del InFrameDeletion 26/29 - 1
2-21230674-A-C c.9066T>G p.D3022E Missense 26/29 - 1
2-21230674-A-T c.9066T>A p.D3022E Missense 26/29 - 1
2-21230675-T-TA c.9064_9065insT p.D3022Vfs*24 Frameshift 26/29 - 1
2-21230676-C-A c.9064G>T p.D3022Y Missense 26/29 - 2
2-21230676-C-T c.9064G>A p.D3022N Missense 26/29 - 8
2-21230679-G-T c.9061C>A p.H3021N Missense 26/29 - 5
2-21230680-C-A c.9060G>T p.R3020S Missense 26/29 - 1
2-21230680-C-T c.9060G>A p.R3020= Synonymous 26/29 - 2
2-21230682-T-G c.9058A>C p.R3020= Synonymous 26/29 - 1
2-21230681-C-G c.9059G>C p.R3020T Missense 26/29 - 1
2-21230683-C-A c.9057G>T p.G3019= Synonymous 26/29 - 1
2-21230684-CC-GT c.9055_9056delinsAC p.G3019T Missense 26/29 - 1
2-21230684-C-G c.9056G>C p.G3019A Missense 26/29 - 1
2-21230684-C-T c.9056G>A p.G3019E Missense 26/29 - 4
2-21230685-C-A c.9055G>T p.G3019W Missense 26/29 - 3
2-21230694-C-A c.9046G>T p.E3016* Nonsense 26/29 - 3
2-21230698-C-A c.9042G>T p.K3014N Missense 26/29 - 1
2-21230698-C-G c.9042G>C p.K3014N Missense 26/29 - 1
2-21230702-C-T c.9038G>A p.G3013E Missense 26/29 - 3
2-21230708-C-T c.9032G>A p.G3011E Missense 26/29 - 2
2-21230711-A-T c.9029T>A p.F3010Y Missense 26/29 - 1
2-21230709-CA-C c.9030del p.F3010Lfs*16 Frameshift 26/29 - 1
2-21230714-A-T c.9026T>A p.L3009Q Missense 26/29 - 3
2-21230717-G-A c.9023C>T p.A3008V Missense 26/29 - 1
2-21230718-C-A c.9022G>T p.A3008S Missense 26/29 - 1
2-21230718-C-G c.9022G>C p.A3008P Missense 26/29 - 1
2-21230718-C-T c.9022G>A p.A3008T Missense 26/29 - 3
2-21230719-C-T c.9021G>A p.M3007I Missense 26/29 - 1
2-21230722-G-A c.9018C>T p.G3006= Synonymous 26/29 - 1
2-21230722-G-C c.9018C>G p.G3006= Synonymous 26/29 - 1
2-21230722-G-T c.9018C>A p.G3006= Synonymous 26/29 - 1
2-21230724-C-A c.9016G>T p.G3006C Missense 26/29 - 4
2-21230729-G-T c.9011C>A p.A3004D Missense 26/29 - 4
2-21230730-C-A c.9010G>T p.A3004S Missense 26/29 - 2
2-21230733-T-G c.9007A>C p.T3003P Missense 26/29 - 1
2-21230734-T-A c.9006A>T p.L3002= Synonymous 26/29 - 1
2-21230734-T-C c.9006A>G p.L3002= Synonymous 26/29 - 1
2-21230734-T-G c.9006A>C p.L3002= Synonymous 26/29 - 1
2-21230736-G-A c.9004C>T p.L3002= Synonymous 26/29 - 3
2-21230736-G-C c.9004C>G p.L3002V Missense 26/29 - 1
2-21230744-T-G c.8996A>C p.H2999P Missense 26/29 - 1
2-21230746-G-GC c.8993dup p.H2999Pfs*7 Frameshift 26/29 - 1
2-21230751-C-T c.8989G>A p.V2997M Missense 26/29 - 2
2-21230754-G-A c.8986C>T p.H2996Y Missense 26/29 - 1
2-21230755-C-CCTCCCAGTAAACTCTGCCT c.8984_8985insAGGCAGAGTTTACTGGGAG p.H2996Gfs*16 Frameshift 26/29 - 1
2-21230755-C-T c.8985G>A p.Q2995= Synonymous 26/29 - 1
2-21230763-C-G c.8977G>C p.D2993H Missense 26/29 - 1
2-21230763-C-T c.8977G>A p.D2993N Missense 26/29 - 9
2-21230765-A-G c.8975T>C p.V2992A Missense 26/29 - 1
2-21230770-T-TG c.8969dup p.Q2991Tfs*15 Frameshift 26/29 - 2
2-21230775-G-A c.8965C>T p.Q2989* Nonsense 26/29 - 8
2-21230775-G-T c.8965C>A p.Q2989K Missense 26/29 - 1
2-21230778-T-G c.8962A>C p.I2988L Missense 26/29 - 1
2-21230780-T-A c.8960A>T p.E2987V Missense 26/29 - 1
2-21230784-G-A c.8956C>T p.L2986F Missense 26/29 - 1
2-21230787-T-C c.8953A>G p.K2985E Missense 26/29 - 2
2-21230793-A-G c.8947T>C p.F2983L Missense 26/29 - 1
2-21230793-A-T c.8947T>A p.F2983I Missense 26/29 - 1
2-21230794-G-C c.8946C>G p.N2982K Missense 26/29 - 1
2-21230794-G-T c.8946C>A p.N2982K Missense 26/29 - 2
2-21230794-GTT-TTA c.8944_8946delinsTAA p.N2982* Nonsense 26/29 - 1
2-21230800-G-A c.8940C>T p.S2980= Synonymous 26/29 - 2
2-21230801-G-A c.8939C>T p.S2980F Missense 26/29 - 5
2-21230801-G-C c.8939C>G p.S2980C Missense 26/29 - 2
2-21230804-C-T c.8936G>A p.G2979D Missense 26/29 - 1
2-21230808-A-G c.8932T>C p.S2978P Missense 26/29 - 1
2-21230813-T-A c.8927A>T p.Y2976F Missense 26/29 - 1
2-21230816-A-C c.8924T>G p.V2975G Missense 26/29 - 1
2-21230817-C-A c.8923G>T p.V2975F Missense 26/29 - 1
2-21230817-C-T c.8923G>A p.V2975I Missense 26/29 - 2
2-21230820-A-C c.8920T>G p.L2974V Missense 26/29 - 4
2-21230821-G-A c.8919C>T p.N2973= Synonymous 26/29 - 1
2-21230822-T-C c.8918A>G p.N2973S Missense 26/29 - 1
2-21230826-G-T c.8914C>A p.Q2972K Missense 26/29 - 1
2-21230827-G-A c.8913C>T p.N2971= Synonymous 26/29 - 1
2-21230828-T-G c.8912A>C p.N2971T Missense 26/29 - 7
2-21230830-T-C c.8910A>G p.V2970= Synonymous 26/29 - 1
2-21230833-TCT-ATG c.8905_8907delinsCAT p.R2969H Missense 26/29 - 1
2-21230834-C-G c.8906G>C p.R2969T Missense 26/29 - 1
2-21230834-C-T c.8906G>A p.R2969K Missense 26/29 - 1
2-21230838-G-T c.8902C>A p.L2968I Missense 26/29 - 2
2-21230841-G-GT c.8898dup p.H2967Tfs*11 Frameshift 26/29 - 1
2-21230844-T-C c.8896A>G p.K2966E Missense 26/29 - 1
2-21230844-T-G c.8896A>C p.K2966Q Missense 26/29 - 1
2-21230848-A-G c.8892T>C p.N2964= Synonymous 26/29 - 5
2-21230849-T-C c.8891A>G p.N2964S Missense 26/29 - 3
2-21230851-G-A c.8889C>T p.I2963= Synonymous 26/29 - 1
2-21230854-C-A c.8886G>T p.K2962N Missense 26/29 - 1
2-21230854-C-G c.8886G>C p.K2962N Missense 26/29 - 1
2-21230855-T-G c.8885A>C p.K2962T Missense 26/29 - 1
2-21230858-T-A c.8882A>T p.N2961I Missense 26/29 - 5
2-21230858-T-C c.8882A>G p.N2961S Missense 26/29 - 3
2-21230861-G-T c.8879C>A p.S2960Y Missense 26/29 - 1
2-21230862-A-G c.8878T>C p.S2960P Missense 26/29 - 1
2-21230863-C-A c.8877G>T p.L2959= Synonymous 26/29 - 1
2-21230863-C-G c.8877G>C p.L2959= Synonymous 26/29 - 1
2-21230863-C-T c.8877G>A p.L2959= Synonymous 26/29 - 3
2-21230865-G-A c.8875C>T p.L2959= Synonymous 26/29 - 1
2-21230865-G-T c.8875C>A p.L2959M Missense 26/29 - 1
2-21230866-T-C c.8874A>G p.G2958= Synonymous 26/29 - 1
2-21230871-A-T c.8869T>A p.F2957I Missense 26/29 - 5
2-21230872-G-A c.8868C>T p.S2956= Synonymous 26/29 - 1
2-21230873-G-A c.8867C>T p.S2956F Missense 26/29 - 6
2-21230874-A-G c.8866T>C p.S2956P Missense 26/29 - 1
2-21230875-A-C c.8865T>G p.T2955= Synonymous 26/29 - 1
2-21230875-A-G c.8865T>C p.T2955= Synonymous 26/29 - 1
2-21230875-A-T c.8865T>A p.T2955= Synonymous 26/29 - 1
2-21230877-T-C c.8863A>G p.T2955A Missense 26/29 - 3
2-21230877-T-G c.8863A>C p.T2955P Missense 26/29 - 1
2-21230880-G-A c.8860C>T p.L2954F Missense 26/29 - 2
2-21230881-G-A c.8859C>T p.P2953= Synonymous 26/29 - 1
2-21230882-G-C c.8858C>G p.P2953R Missense 26/29 - 1
2-21230883-G-A c.8857C>T p.P2953S Missense 26/29 - 1
2-21230885-C-A c.8855G>T p.G2952V Missense 26/29 - 3
2-21230885-C-T c.8855G>A p.G2952E Missense 26/29 - 1
2-21230884-TC-T c.8855del p.G2952Dfs*17 Frameshift 26/29 - 2
2-21230886-C-T c.8854G>A p.G2952R Missense 26/29 - 1
2-21230889-C-T c.8851G>A p.E2951K Missense 26/29 - 2
2-21230891-A-G c.8849T>C p.I2950T Missense 26/29 - 5
2-21230894-G-A c.8846C>T p.T2949I Missense 26/29 - 1
2-21230896-G-A c.8844C>T p.F2948= Synonymous 26/29 - 2
2-21230900-C-G c.8840G>C p.S2947T Missense 26/29 - 1
2-21230901-T-A c.8839A>T p.S2947C Missense 26/29 - 1
2-21230908-T-C c.8832A>G p.S2944= Synonymous 26/29 - 1
2-21230912-T-C c.8828A>G p.E2943G Missense 26/29 - 2
2-21230913-C-T c.8827G>A p.E2943K Missense 26/29 - 2
2-21230914-A-C c.8826T>G p.H2942Q Missense 26/29 - 2
2-21230914-A-T c.8826T>A p.H2942Q Missense 26/29 - 2
2-21230915-T-C c.8825A>G p.H2942R Missense 26/29 - 1
2-21230918-G-A c.8822C>T p.T2941I Missense 26/29 - 3
2-21230918-G-C c.8822C>G p.T2941R Missense 26/29 - 1
2-21230918-G-T c.8822C>A p.T2941K Missense 26/29 - 1
2-21230919-T-C c.8821A>G p.T2941A Missense 26/29 - 1
2-21230921-C-A c.8819G>T p.G2940V Missense 26/29 - 3
2-21230921-C-T c.8819G>A p.G2940E Missense 26/29 - 4
2-21230922-C-T c.8818G>A p.G2940R Missense 26/29 - 1
2-21230923-C-A c.8817G>T p.E2939D Missense 26/29 - 2
2-21230923-C-G c.8817G>C p.E2939D Missense 26/29 - 1
2-21230927-T-C c.8813A>G p.D2938G Missense 26/29 - 1
2-21230933-A-T c.8807T>A p.F2936Y Missense 26/29 - 1
2-21230932-G-C c.8808C>G p.F2936L Missense 26/29 - 1
2-21230936-C-A c.8804G>T p.R2935I Missense 26/29 - 1
2-21230936-C-G c.8804G>C p.R2935T Missense 26/29 - 1
2-21230936-C-T c.8804G>A p.R2935K Missense 26/29 - 2
2-21230940-G-T c.8800C>A p.P2934T Missense 26/29 - 1
2-21230941-G-A c.8799C>T p.C2933= Synonymous 26/29 - 1
2-21230945-GC-G c.8794del p.A2932Pfs*19 Frameshift 26/29 - 2
2-21230947-C-T c.8793G>A p.W2931* Nonsense 26/29 - 2
2-21230948-C-T c.8792G>A p.W2931* Nonsense 26/29 - 2
2-21230950-T-A c.8790A>T p.K2930N Missense 26/29 - 1
2-21230950-T-G c.8790A>C p.K2930N Missense 26/29 - 5
2-21230951-T-C c.8789A>G p.K2930R Missense 26/29 - 1
2-21230953-C-T c.8787G>A p.W2929* Nonsense 26/29 - 8
2-21230954-C-T c.8786G>A p.W2929* Nonsense 26/29 - 5
2-21230958-A-C c.8782T>G p.S2928A Missense 26/29 - 1
2-21230960-C-G c.8780G>C p.G2927A Missense 26/29 - 2
2-21230961-C-A c.8779G>T p.G2927W Missense 26/29 - 5
2-21230961-CCT-C c.8778_8779del p.G2927Vfs*12 Frameshift 26/29 - 2
2-21230961-C-T c.8779G>A p.G2927R Missense 26/29 - 2
2-21230962-T-G c.8778A>C p.K2926N Missense 26/29 - 1
2-21230963-T-C c.8777A>G p.K2926R Missense 26/29 - 1
2-21230966-C-A c.8774G>T p.G2925V Missense 26/29 - 4
2-21230967-C-A c.8773G>T p.G2925* Nonsense 26/29 - 2
2-21230967-C-T c.8773G>A p.G2925R Missense 26/29 - 1
2-21230968-A-G c.8772T>C p.S2924= Synonymous 26/29 - 1
2-21230974-A-C c.8766T>G p.T2922= Synonymous 26/29 - 1
2-21230974-A-G c.8766T>C p.T2922= Synonymous 26/29 - 1
2-21230975-AG-A c.8765del p.T2922Ifs*29 Frameshift 26/29 - 1
2-21230975-G-A c.8765C>T p.T2922I Missense 26/29 - 1
2-21230977-C-T c.8763G>A p.W2921* Nonsense 26/29 - 1
2-21230979-A-C c.8761T>G p.W2921G Missense 26/29 - 1
2-21230979-A-G c.8761T>C p.W2921R Missense 26/29 - 1
2-21230981-G-T c.8759C>A p.A2920E Missense 26/29 - 1
2-21230982-C-T c.8758G>A p.A2920T Missense 26/29 - 3
2-21230985-T-C c.8755A>G p.I2919V Missense 26/29 - 1
2-21230987-T-C c.8753A>G p.H2918R Missense 26/29 - 1
2-21230990-C-T c.8750G>A p.G2917D Missense 26/29 - 1
2-21230991-C-T c.8749G>A p.G2917S Missense 26/29 - 1
2-21230995-T-G c.8745A>C p.K2915N Missense 26/29 - 1
2-21230998-C-A c.8742G>T p.L2914F Missense 26/29 - 2
2-21230998-C-G c.8742G>C p.L2914F Missense 26/29 - 1
2-21230998-C-T c.8742G>A p.L2914= Synonymous 26/29 - 2
2-21230999-AAC-A c.8739_8740del p.L2914Efs*25 Frameshift 26/29 - 1
2-21231002-A-C c.8738T>G p.L2913R Missense 26/29 - 1
2-21231005-G-C c.8735C>G p.T2912R Missense 26/29 - 2
2-21231010-TG-T c.8730del p.K2911Rfs*4 Frameshift 26/29 - 1
2-21231011-A-G c.8729T>C p.I2910T Missense 26/29 - 2
2-21231012-T-C c.8728A>G p.I2910V Missense 26/29 - 1
2-21231013-C-A c.8727G>T p.E2909D Missense 26/29 - 1
2-21231013-C-G c.8727G>C p.E2909D Missense 26/29 - 1
2-21231015-C-T c.8725G>A p.E2909K Missense 26/29 - 10
2-21231016-G-A c.8724C>T p.N2908= Synonymous 26/29 - 2
2-21231020-C-T c.8720G>A p.R2907H Missense 26/29 - 3
2-21231021-G-A c.8719C>T p.R2907C Missense 26/29 - 4
2-21231024-G-T c.8716C>A p.L2906M Missense 26/29 - 1
2-21231027-C-A c.8713G>T p.D2905Y Missense 26/29 - 1
2-21231027-C-T c.8713G>A p.D2905N Missense 26/29 - 2
2-21231029-G-A c.8711C>T p.A2904V Missense 26/29 - 1
2-21231030-C-T c.8710G>A p.A2904T Missense 26/29 - 1
2-21231036-T-A c.8704A>T p.S2902C Missense 26/29 - 2
2-21231038-G-C c.8702C>G p.S2901C Missense 26/29 - 1
2-21231040-G-T c.8700C>A p.F2900L Missense 26/29 - 1
2-21231046-C-A c.8694G>T p.L2898= Synonymous 26/29 - 1
2-21231046-C-G c.8694G>C p.L2898= Synonymous 26/29 - 1
2-21231046-C-T c.8694G>A p.L2898= Synonymous 26/29 - 1
2-21231048-G-A c.8692C>T p.L2898= Synonymous 26/29 - 1
2-21231047-A-G c.8693T>C p.L2898P Missense 26/29 - 4
2-21231052-GG-TT c.8687_8688delinsAA p.P2896Q Missense 26/29 - 1
2-21231053-G-A c.8687C>T p.P2896L Missense 26/29 - 1
2-21231053-G-T c.8687C>A p.P2896H Missense 26/29 - 1
2-21231061-C-A c.8679G>T p.L2893F Missense 26/29 - 1
2-21231061-C-G c.8679G>C p.L2893F Missense 26/29 - 1
2-21231066-T-C c.8674A>G p.K2892E Missense 26/29 - 1
2-21231069-G-T c.8671C>A p.H2891N Missense 26/29 - 3
2-21231070-G-T c.8670C>A p.F2890L Missense 26/29 - 2
2-21231070-G-C c.8670C>G p.F2890L Missense 26/29 - 1
2-21231072-A-C c.8668T>G p.F2890V Missense 26/29 - 1
2-21231072-A-G c.8668T>C p.F2890L Missense 26/29 - 1
2-21231074-T-C c.8666A>G p.Y2889C Missense 26/29 - 1
2-21231075-A-C c.8665T>G p.Y2889D Missense 26/29 - 1
2-21231075-A-G c.8665T>C p.Y2889H Missense 26/29 - 1
2-21231075-A-T c.8665T>A p.Y2889N Missense 26/29 - 1
2-21231078-T-C c.8662A>G p.K2888E Missense 26/29 - 1
2-21231088-A-C c.8652T>G p.D2884E Missense 26/29 - 1
2-21231089-T-C c.8651A>G p.D2884G Missense 26/29 - 2
2-21231092-A-G c.8648T>C p.L2883P Missense 26/29 - 1
2-21231092-A-T c.8648T>A p.L2883Q Missense 26/29 - 1
2-21231093-G-T c.8647C>A p.L2883M Missense 26/29 - 1
2-21231095-G-A c.8645C>T p.T2882I Missense 26/29 - 4
2-21231097-A-G c.8643T>C p.L2881= Synonymous 26/29 - 1
2-21231098-A-G c.8642T>C p.L2881P Missense 26/29 - 1
2-21231102-G-A c.8638C>T p.Q2880* Nonsense 26/29 - 4
2-21231103-A-G c.8637T>C p.N2879= Synonymous 26/29 - 1
2-21231105-T-A c.8635A>T p.N2879Y Missense 26/29 - 2
2-21231106-G-A c.8634C>T p.N2878= Synonymous 26/29 - 1
2-21231107-T-C c.8633A>G p.N2878S Missense 26/29 - 2
2-21231109-T-A c.8631A>T p.I2877= Synonymous 26/29 - 2
2-21231112-C-T c.8628G>A p.K2876= Synonymous 26/29 - 1
2-21231115-G-A c.8625C>T p.V2875= Synonymous 26/29 - 1
2-21231115-G-C c.8625C>G p.V2875= Synonymous 26/29 - 1
2-21231115-G-T c.8625C>A p.V2875= Synonymous 26/29 - 1
2-21231119-A-T c.8621T>A p.I2874N Missense 26/29 - 1
2-21231121-C-A c.8619G>T p.V2873= Synonymous 26/29 - 3
2-21231121-C-G c.8619G>C p.V2873= Synonymous 26/29 - 5
2-21231121-C-T c.8619G>A p.V2873= Synonymous 26/29 - 1
2-21231125-C-T c.8615G>A p.G2872E Missense 26/29 - 4
2-21231126-C-T c.8614G>A p.G2872R Missense 26/29 - 6
2-21231127-A-C c.8613T>G p.N2871K Missense 26/29 - 1
2-21231127-A-T c.8613T>A p.N2871K Missense 26/29 - 1
2-21231131-C-A c.8609G>T p.S2870I Missense 26/29 - 1
2-21231131-C-T c.8609G>A p.S2870N Missense 26/29 - 4
2-21231132-T-C c.8608A>G p.S2870G Missense 26/29 - 2
2-21231138-C-G c.8602G>C p.E2868Q Missense 26/29 - 1
2-21231144-T-C c.8596A>G p.T2866A Missense 26/29 - 1
2-21231145-A-G c.8595T>C p.N2865= Synonymous 26/29 - 1
2-21231145-A-T c.8595T>A p.N2865K Missense 26/29 - 1
2-21231146-T-A c.8594A>T p.N2865I Missense 26/29 - 1
2-21231146-T-C c.8594A>G p.N2865S Missense 26/29 - 2
2-21231147-T-C c.8593A>G p.N2865D Missense 26/29 - 1
2-21231150-T-G c.8590A>C p.K2864Q Missense 26/29 - 1
2-21231145-AT-A c.8594del p.N2865Ifs*9 Frameshift 26/29 - 2
2-21231152-T-A c.8588A>T p.E2863V Missense 26/29 - 1
2-21231153-C-G c.8587G>C p.E2863Q Missense 26/29 - 1
2-21231153-C-T c.8587G>A p.E2863K Missense 26/29 - 7
2-21231167-G-T c.8573C>A p.A2858E Missense 26/29 - 1
2-21231171-C-T c.8569G>A p.V2857M Missense 26/29 - 1
2-21231181-T-A c.8559A>T p.K2853N Missense 26/29 - 1
2-21231183-T-A c.8557A>T p.K2853* Nonsense 26/29 - 1
2-21231185-C-G c.8555G>C p.G2852A Missense 26/29 - 1
2-21231190-A-C c.8550T>G p.I2850M Missense 26/29 - 6
2-21231195-C-T c.8545G>A p.A2849T Missense 26/29 - 1
2-21231197-T-G c.8543A>C p.N2848T Missense 26/29 - 1
2-21231200-C-A c.8540G>T p.G2847V Missense 26/29 - 3
2-21231201-C-G c.8539G>C p.G2847R Missense 26/29 - 6
2-21231201-C-T c.8539G>A p.G2847R Missense 26/29 - 6
2-21231201-C-CA c.8538dup p.G2847Wfs*5 Frameshift 26/29 - 5
2-21231209-A-C c.8531T>G p.L2844R Missense 26/29 - 1
2-21231209-A-T c.8531T>A p.L2844Q Missense 26/29 - 1
2-21231210-G-T c.8530C>A p.L2844M Missense 26/29 - 2
2-21231211-C-A c.8529G>T p.M2843I Missense 26/29 - 2
2-21231211-C-G c.8529G>C p.M2843I Missense 26/29 - 3
2-21231211-C-T c.8529G>A p.M2843I Missense 26/29 - 2
2-21231212-A-G c.8528T>C p.M2843T Missense 26/29 - 2
2-21231213-T-G c.8527A>C p.M2843L Missense 26/29 - 1
2-21231215-T-C c.8525A>G p.E2842G Missense 26/29 - 1
2-21231216-C-T c.8524G>A p.E2842K Missense 26/29 - 3
2-21231217-A-G c.8523T>C p.S2841= Synonymous 26/29 - 1
2-21231219-T-G c.8521A>C p.S2841R Missense 26/29 - 2
2-21231221-C-A c.8519G>T p.G2840V Missense 26/29 - 1
2-21231221-C-T c.8519G>A p.G2840E Missense 26/29 - 2
2-21231223-A-G c.8517T>C p.H2839= Synonymous 26/29 - 1
2-21231224-T-A c.8516A>T p.H2839L Missense 26/29 - 2
2-21231226-C-G c.8514G>C p.E2838D Missense 26/29 - 1
2-21231226-C-T c.8514G>A p.E2838= Synonymous 26/29 - 1
2-21231227-T-A c.8513A>T p.E2838V Missense 26/29 - 1
2-21231228-C-T c.8512G>A p.E2838K Missense 26/29 - 1
2-21231230-G-A c.8510C>T p.T2837M Missense 26/29 - 4
2-21231232-TCT-ATG c.8506_8508delinsCAT p.R2836H Missense 26/29 - 1
2-21231233-C-A c.8507G>T p.R2836I Missense 26/29 - 1
2-21231233-C-T c.8507G>A p.R2836K Missense 26/29 - 2
2-21231235-C-G c.8505G>C p.L2835= Synonymous 26/29 - 1
2-21231241-C-G c.8499G>C p.K2833N Missense 26/29 - 1
2-21231242-T-C c.8498A>G p.K2833R Missense 26/29 - 1
2-21231245-C-T c.8495G>A p.S2832N Missense 26/29 - 2
2-21231248-G-A c.8492C>T p.S2831F Missense 26/29 - 2
2-21231248-GA-TT c.8491_8492delinsAA p.S2831N Missense 26/29 - 1
2-21231248-G-T c.8492C>A p.S2831Y Missense 26/29 - 1
2-21231249-A-T c.8491T>A p.S2831T Missense 26/29 - 1
2-21231256-C-A c.8484G>T p.V2828= Synonymous 26/29 - 1
2-21231256-C-G c.8484G>C p.V2828= Synonymous 26/29 - 1
2-21231256-C-T c.8484G>A p.V2828= Synonymous 26/29 - 1
2-21231258-C-T c.8482G>A p.V2828M Missense 26/29 - 4
2-21231260-G-A c.8480C>T p.S2827L Missense 26/29 - 1
2-21231263-T-C c.8477A>G p.E2826G Missense 26/29 - 6
2-21231264-C-G c.8476G>C p.E2826Q Missense 26/29 - 1
2-21231264-C-T c.8476G>A p.E2826K Missense 26/29 - 1
2-21231265-C-A c.8475G>T p.K2825N Missense 26/29 - 1
2-21231265-C-G c.8475G>C p.K2825N Missense 26/29 - 2
2-21231265-C-T c.8475G>A p.K2825= Synonymous 26/29 - 1
2-21231268-C-A c.8472G>T p.L2824= Synonymous 26/29 - 1
2-21231268-C-G c.8472G>C p.L2824= Synonymous 26/29 - 1
2-21231268-C-T c.8472G>A p.L2824= Synonymous 26/29 - 4
2-21231270-G-A c.8470C>T p.L2824= Synonymous 26/29 - 1
2-21231270-G-C c.8470C>G p.L2824V Missense 26/29 - 2
2-21231271-A-C c.8469T>G p.A2823= Synonymous 26/29 - 1
2-21231271-A-G c.8469T>C p.A2823= Synonymous 26/29 - 2
2-21231271-A-T c.8469T>A p.A2823= Synonymous 26/29 - 2
2-21231273-C-A c.8467G>T p.A2823S Missense 26/29 - 2
2-21231273-C-G c.8467G>C p.A2823P Missense 26/29 - 1
2-21231276-G-T c.8464C>A p.L2822M Missense 26/29 - 1
2-21231277-C-A c.8463G>T p.P2821= Synonymous 26/29 - 2
2-21231277-C-G c.8463G>C p.P2821= Synonymous 26/29 - 2
2-21231277-C-T c.8463G>A p.P2821= Synonymous 26/29 - 3
2-21231278-G-A c.8462C>T p.P2821L Missense 26/29 - 22
2-21231279-G-A c.8461C>T p.P2821S Missense 26/29 - 8
2-21231279-G-C c.8461C>G p.P2821A Missense 26/29 - 1
2-21231284-A-C c.8456T>G p.I2819S Missense 26/29 - 1
2-21231287-T-C c.8453A>G p.K2818R Missense 26/29 - 1
2-21231290-G-A c.8450C>T p.P2817L Missense 26/29 - 3
2-21231291-G-A c.8449C>T p.P2817S Missense 26/29 - 2
2-21231291-G-T c.8449C>A p.P2817T Missense 26/29 - 1
2-21231293-T-A c.8447A>T p.N2816I Missense 26/29 - 1
2-21231293-T-G c.8447A>C p.N2816T Missense 26/29 - 1
2-21231297-A-C c.8443T>G p.S2815A Missense 26/29 - 1
2-21231297-A-T c.8443T>A p.S2815T Missense 26/29 - 1
2-21231300-G-T c.8440C>A p.L2814I Missense 26/29 - 1
2-21231301-T-G c.8439A>C p.Q2813H Missense 26/29 - 1
2-21231303-G-A c.8437C>T p.Q2813* Nonsense 26/29 - 1
2-21231305-G-T c.8435C>A p.A2812E Missense 26/29 - 1
2-21231306-C-A c.8434G>T p.A2812S Missense 26/29 - 1
2-21231308-T-A c.8432A>T p.N2811I Missense 26/29 - 1
2-21231311-G-C c.8429C>G p.A2810G Missense 26/29 - 1
2-21231311-G-T c.8429C>A p.A2810E Missense 26/29 - 2
2-21231312-C-A c.8428G>T p.A2810S Missense 26/29 - 2
2-21231312-C-T c.8428G>A p.A2810T Missense 26/29 - 1
2-21231315-G-A c.8425C>T p.Q2809* Nonsense 26/29 - 2
2-21231315-G-C c.8425C>G p.Q2809E Missense 26/29 - 1
2-21231318-A-T c.8422T>A p.F2808I Missense 26/29 - 1
2-21231321-C-G c.8419G>C p.D2807H Missense 26/29 - 3
2-21231323-A-C c.8417T>G p.F2806C Missense 26/29 - 1
2-21231324-A-C c.8416T>G p.F2806V Missense 26/29 - 1
2-21231326-T-C c.8414A>G p.N2805S Missense 26/29 - 1
2-21231328-G-A c.8412C>T p.L2804= Synonymous 26/29 - 1
2-21231328-G-C c.8412C>G p.L2804= Synonymous 26/29 - 1
2-21231328-G-T c.8412C>A p.L2804= Synonymous 26/29 - 2
2-21231330-G-A c.8410C>T p.L2804F Missense 26/29 - 1
2-21231330-G-T c.8410C>A p.L2804I Missense 26/29 - 1
2-21231335-T-A c.8405A>T p.E2802V Missense 26/29 - 1
2-21231336-C-T c.8404G>A p.E2802K Missense 26/29 - 3
2-21231337-T-A c.8403A>T p.L2801F Missense 26/29 - 1
2-21231340-T-A c.8400A>T p.K2800N Missense 26/29 - 1
2-21231340-T-G c.8400A>C p.K2800N Missense 26/29 - 1
2-21231343-G-A c.8397C>T p.S2799= Synonymous 26/29 - 3
2-21231346-C-A c.8394G>T p.E2798D Missense 26/29 - 2
2-21231346-C-G c.8394G>C p.E2798D Missense 26/29 - 1
2-21231348-C-G c.8392G>C p.E2798Q Missense 26/29 - 3
2-21231348-C-T c.8392G>A p.E2798K Missense 26/29 - 4
2-21231350-C-T c.8390G>A p.G2797E Missense 26/29 - 5
2-21231351-C-A c.8389G>T p.G2797* Nonsense 26/29 - 1
2-21231351-C-G c.8389G>C p.G2797R Missense 26/29 - 2
2-21231351-C-T c.8389G>A p.G2797R Missense 26/29 - 6
2-21231355-G-T c.8385C>A p.A2795= Synonymous 26/29 - 1
2-21231356-G-A c.8384C>T p.A2795V Missense 26/29 - 5
2-21231357-C-A c.8383G>T p.A2795S Missense 26/29 - 2
2-21231359-G-A c.8381C>T p.T2794I Missense 26/29 - 2
2-21231367-A-C c.8373T>G p.A2791= Synonymous 26/29 - 1
2-21231367-A-G c.8373T>C p.A2791= Synonymous 26/29 - 1
2-21231367-A-T c.8373T>A p.A2791= Synonymous 26/29 - 1
2-21231370-T-A c.8370A>T p.A2790= Synonymous 26/29 - 1
2-21231370-T-C c.8370A>G p.A2790= Synonymous 26/29 - 1
2-21231370-T-G c.8370A>C p.A2790= Synonymous 26/29 - 1
2-21231372-C-A c.8368G>T p.A2790S Missense 26/29 - 1
2-21231372-C-T c.8368G>A p.A2790T Missense 26/29 - 4
2-21231373-G-A c.8367C>T p.I2789= Synonymous 26/29 - 5
2-21231373-G-T c.8367C>A p.I2789= Synonymous 26/29 - 4
2-21231377-C-G c.8363G>C p.G2788A Missense 26/29 - 1
2-21231378-C-T c.8362G>A p.G2788S Missense 26/29 - 1
2-21231380-G-A c.8360C>T p.A2787V Missense 26/29 - 1
2-21231384-C-T c.8356G>A p.E2786K Missense 26/29 - 13
2-21231385-G-A c.8355C>T p.N2785= Synonymous 26/29 - 4
2-21231387-T-G c.8353A>C p.N2785H Missense 26/29 - 23
2-21231393-A-T c.8347T>A p.S2783T Missense 26/29 - 2
2-21231396-T-C c.8344A>G p.T2782A Missense 26/29 - 1
2-21231396-T-G c.8344A>C p.T2782P Missense 26/29 - 1
2-21231397-G-C c.8343C>G p.T2781= Synonymous 26/29 - 1
2-21231398-G-A c.8342C>T p.T2781I Missense 26/29 - 3
2-21231402-C-G c.8338G>C p.G2780R Missense 26/29 - 2
2-21231402-C-T c.8338G>A p.G2780R Missense 26/29 - 2
2-21231403-ATT-TTA c.8335_8337delinsTAA p.N2779* Nonsense 26/29 - 1
2-21231404-T-A c.8336A>T p.N2779I Missense 26/29 - 3
2-21231405-T-G c.8335A>C p.N2779H Missense 26/29 - 1
2-21231406-C-T c.8334G>A p.G2778= Synonymous 26/29 - 4
2-21231412-G-A c.8328C>T p.D2776= Synonymous 26/29 - 1
2-21231416-G-T c.8324C>A p.A2775D Missense 26/29 - 1
2-21231423-C-A c.8317G>T p.A2773S Missense 26/29 - 1
2-21231425-T-A c.8315A>T p.D2772V Missense 26/29 - 3
2-21231425-T-C c.8315A>G p.D2772G Missense 26/29 - 1
2-21231426-C-G c.8314G>C p.D2772H Missense 26/29 - 1
2-21231426-C-T c.8314G>A p.D2772N Missense 26/29 - 1
2-21231431-G-A c.8309C>T p.T2770I Missense 26/29 - 2
2-21231432-T-G c.8308A>C p.T2770P Missense 26/29 - 2
2-21231433-G-A c.8307C>T p.F2769= Synonymous 26/29 - 4
2-21231440-GG-AT c.8299_8300delinsAT p.P2767I Missense 26/29 - 1
2-21231441-G-A c.8299C>T p.P2767S Missense 26/29 - 4
2-21231441-G-C c.8299C>G p.P2767A Missense 26/29 - 1
2-21231443-G-A c.8297C>T p.S2766F Missense 26/29 - 1
2-21231443-G-T c.8297C>A p.S2766Y Missense 26/29 - 3
2-21231445-T-C c.8295A>G p.Q2765= Synonymous 26/29 - 1
2-21231446-T-C c.8294A>G p.Q2765R Missense 26/29 - 2
2-21231453-T-G c.8287A>C p.K2763Q Missense 26/29 - 1
2-21231454-C-G c.8286G>C p.L2762= Synonymous 26/29 - 1
2-21231454-C-T c.8286G>A p.L2762= Synonymous 26/29 - 1
2-21231455-CA-C c.8285del p.L2762Rfs*10 Frameshift 26/29 - 1
2-21231457-A-C c.8283T>G p.I2761M Missense 26/29 - 1
2-21231458-A-T c.8282T>A p.I2761N Missense 26/29 - 1
2-21231464-T-C c.8276A>G p.Y2759C Missense 26/29 - 1
2-21231466-T-A c.8274A>T p.L2758= Synonymous 26/29 - 1
2-21231466-T-C c.8274A>G p.L2758= Synonymous 26/29 - 1
2-21231466-T-G c.8274A>C p.L2758= Synonymous 26/29 - 1
2-21231468-G-A c.8272C>T p.L2758= Synonymous 26/29 - 1
2-21231472-G-A c.8268C>T p.G2756= Synonymous 26/29 - 1
2-21231472-G-C c.8268C>G p.G2756= Synonymous 26/29 - 1
2-21231472-G-T c.8268C>A p.G2756= Synonymous 26/29 - 1
2-21231473-C-A c.8267G>T p.G2756V Missense 26/29 - 1
2-21231474-C-A c.8266G>T p.G2756C Missense 26/29 - 2
2-21231480-T-C c.8260A>G p.T2754A Missense 26/29 - 2
2-21231482-G-A c.8258C>T p.P2753L Missense 26/29 - 3
2-21231482-G-C c.8258C>G p.P2753R Missense 26/29 - 2
2-21231483-G-C c.8257C>G p.P2753A Missense 26/29 - 1
2-21231486-C-A c.8254G>T p.V2752L Missense 26/29 - 1
2-21231486-C-G c.8254G>C p.V2752L Missense 26/29 - 1
2-21231488-T-G c.8252A>C p.E2751A Missense 26/29 - 1
2-21231489-C-A c.8251G>T p.E2751* Nonsense 26/29 - 3
2-21231489-C-T c.8251G>A p.E2751K Missense 26/29 - 4
2-21231491-A-G c.8249T>C p.I2750T Missense 26/29 - 1
2-21231493-T-A c.8247A>T p.T2749= Synonymous 26/29 - 1
2-21231493-T-C c.8247A>G p.T2749= Synonymous 26/29 - 1
2-21231493-T-G c.8247A>C p.T2749= Synonymous 26/29 - 1
2-21231494-G-A c.8246C>T p.T2749I Missense 26/29 - 2
2-21231494-G-T c.8246C>A p.T2749K Missense 26/29 - 1
2-21231495-T-C c.8245A>G p.T2749A Missense 26/29 - 5
2-21231497-T-C c.8243A>G p.H2748R Missense 26/29 - 3
2-21231498-G-A c.8242C>T p.H2748Y Missense 26/29 - 2
2-21231498-G-T c.8242C>A p.H2748N Missense 26/29 - 1
2-21231505-G-C c.8235C>G p.H2745Q Missense 26/29 - 1
2-21231507-G-A c.8233C>T p.H2745Y Missense 26/29 - 4
2-21231510-G-A c.8230C>T p.P2744S Missense 26/29 - 2
2-21231510-G-C c.8230C>G p.P2744A Missense 26/29 - 2
2-21231513-G-C c.8227C>G p.L2743V Missense 26/29 - 3
2-21231514-C-A c.8226G>T p.Q2742H Missense 26/29 - 2
2-21231514-C-T c.8226G>A p.Q2742= Synonymous 26/29 - 1
2-21231516-G-A c.8224C>T p.Q2742* Nonsense 26/29 - 3
2-21231517-G-A c.8223C>T p.F2741= Synonymous 26/29 - 5
2-21231522-C-A c.8218G>T p.E2740* Nonsense 26/29 - 1
2-21231523-T-A c.8217A>T p.P2739= Synonymous 26/29 - 3
2-21231523-T-C c.8217A>G p.P2739= Synonymous 26/29 - 2
2-21231523-T-G c.8217A>C p.P2739= Synonymous 26/29 - 2
2-21231524-G-A c.8216C>T p.P2739L Missense 26/29 - 106
2-21231524-G-C c.8216C>G p.P2739R Missense 26/29 - 1
2-21231524-G-T c.8216C>A p.P2739Q Missense 26/29 - 50
2-21231525-G-C c.8215C>G p.P2739A Missense 26/29 - 1
2-21231527-A-T c.8213T>A p.I2738K Missense 26/29 - 2
2-21231528-T-C c.8212A>G p.I2738V Missense 26/29 - 1
2-21231530-T-C c.8210A>G p.H2737R Missense 26/29 - 5
2-21231531-G-T c.8209C>A p.H2737N Missense 26/29 - 1
2-21231534-G-A c.8206C>T p.L2736F Missense 26/29 - 5
2-21231534-G-T c.8206C>A p.L2736I Missense 26/29 - 1
2-21231537-C-G c.8203G>C p.D2735H Missense 26/29 - 3
2-21231539-G-A c.8201C>T p.P2734L Missense 26/29 - 1
2-21231540-G-A c.8200C>T p.P2734S Missense 26/29 - 11
2-21231542-A-G c.8198T>C p.V2733A Missense 26/29 - 2
2-21231545-T-A c.8195A>T p.Q2732L Missense 26/29 - 1
2-21231547-A-T c.8193T>A p.F2731L Missense 26/29 - 1
2-21231550-A-C c.8190T>G p.D2730E Missense 26/29 - 2
2-21231550-A-T c.8190T>A p.D2730E Missense 26/29 - 3
2-21231552-C-T c.8188G>A p.D2730N Missense 26/29 - 5
2-21231553-A-G c.8187T>C p.N2729= Synonymous 26/29 - 1
2-21231558-G-A c.8182C>T p.L2728F Missense 26/29 - 1
2-21231558-G-T c.8182C>A p.L2728I Missense 26/29 - 1
2-21231559-G-C c.8181C>G p.N2727K Missense 26/29 - 1
2-21231559-G-T c.8181C>A p.N2727K Missense 26/29 - 1
2-21231560-T-C c.8180A>G p.N2727S Missense 26/29 - 2
2-21231563-A-G c.8177T>C p.L2726P Missense 26/29 - 1
2-21231570-G-A c.8170C>T p.P2724S Missense 26/29 - 1
2-21231570-G-T c.8170C>A p.P2724T Missense 26/29 - 5
2-21231571-G-T c.8169C>A p.I2723= Synonymous 26/29 - 2
2-21231577-G-A c.8163C>T p.F2721= Synonymous 26/29 - 3
2-21231582-C-G c.8158G>C p.E2720Q Missense 26/29 - 1
2-21231582-C-T c.8158G>A p.E2720K Missense 26/29 - 2
2-21231585-G-T c.8155C>A p.P2719T Missense 26/29 - 1
2-21231587-A-T c.8153T>A p.I2718N Missense 26/29 - 1
2-21231588-T-C c.8152A>G p.I2718V Missense 26/29 - 1
2-21231591-C-T c.8149G>A p.A2717T Missense 26/29 - 2
2-21231592-G-A c.8148C>T p.I2716= Synonymous 26/29 - 9
2-21231597-C-T c.8143G>A p.E2715K Missense 26/29 - 3
2-21231599-G-A c.8141C>T p.P2714L Missense 26/29 - 1
2-21231602-A-G c.8138T>C p.L2713S Missense 26/29 - 1
2-21231601-T-C c.8139A>G p.L2713= Synonymous 26/29 - 1
2-21231603-A-G c.8137T>C p.L2713= Synonymous 26/29 - 1
2-21231605-C-T