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 |
|