FAT1

FAT1 FAT atypical cadherin 1

Annotation transcript: NM_005245.4

8301 unique variant annotations were identified in 1534 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
4-187509217-C-T c.*529G>A - 3-UTRSNV 27/27 - 1
4-187509320-G-A c.*426C>T - 3-UTRSNV 27/27 - 3
4-187509321-A-C c.*425T>G - 3-UTRSNV 27/27 - 5
4-187509492-C-T c.*254G>A - 3-UTRSNV 27/27 - 2
4-187509604-G-A c.*142C>T - 3-UTRSNV 27/27 - 1
4-187509614-G-A c.*132C>T - 3-UTRSNV 27/27 - 3
4-187509686-C-T c.*60G>A - 3-UTRSNV 27/27 - 1
4-187509747-C-A c.13766G>T p.*4589Lext*94 Missense 27/27 - 1
4-187509751-C-A c.13762G>T p.V4588F Missense 27/27 - 1
4-187509754-C-T c.13759G>A p.E4587K Missense 27/27 - 1
4-187509755-C-A c.13758G>T p.T4586= Synonymous 27/27 - 1
4-187509755-C-G c.13758G>C p.T4586= Synonymous 27/27 - 1
4-187509755-C-T c.13758G>A p.T4586= Synonymous 27/27 - 1
4-187509756-G-A c.13757C>T p.T4586M Missense 27/27 - 3
4-187509757-T-A c.13756A>T p.T4586S Missense 27/27 - 1
4-187509760-G-A c.13753C>T p.H4585Y Missense 27/27 - 1
4-187509763-G-A c.13750C>T p.Q4584* Nonsense 27/27 - 1
4-187509763-G-C c.13750C>G p.Q4584E Missense 27/27 - 1
4-187509765-T-A c.13748A>T p.Q4583L Missense 27/27 - 1
4-187509765-T-C c.13748A>G p.Q4583R Missense 27/27 - 1
4-187509766-G-T c.13747C>A p.Q4583K Missense 27/27 - 2
4-187509767-G-A c.13746C>T p.S4582= Synonymous 27/27 - 5
4-187509768-G-A c.13745C>T p.S4582F Missense 27/27 - 9
4-187509776-G-T c.13737C>A p.P4579= Synonymous 27/27 - 2
4-187509779-C-A c.13734G>T p.P4578= Synonymous 27/27 - 2
4-187509779-C-G c.13734G>C p.P4578= Synonymous 27/27 - 2
4-187509779-C-T c.13734G>A p.P4578= Synonymous 27/27 - 3
4-187509780-G-A c.13733C>T p.P4578L Missense 27/27 - 2
4-187509780-G-T c.13733C>A p.P4578Q Missense 27/27 - 2
4-187509781-G-A c.13732C>T p.P4578S Missense 27/27 - 1
4-187509782-G-A c.13731C>T p.I4577= Synonymous 27/27 - 1
4-187509785-C-A c.13728G>T p.T4576= Synonymous 27/27 - 2
4-187509785-C-G c.13728G>C p.T4576= Synonymous 27/27 - 2
4-187509785-C-T c.13728G>A p.T4576= Synonymous 27/27 - 3
4-187509786-G-A c.13727C>T p.T4576M Missense 27/27 - 4
4-187509786-G-C c.13727C>G p.T4576R Missense 27/27 - 1
4-187509788-C-G c.13725G>C p.V4575= Synonymous 27/27 - 2
4-187509789-A-T c.13724T>A p.V4575E Missense 27/27 - 1
4-187509790-C-T c.13723G>A p.V4575M Missense 27/27 - 1
4-187509793-C-T c.13720G>A p.E4574K Missense 27/27 - 1
4-187509794-T-C c.13719A>G p.E4573= Synonymous 27/27 - 3
4-187509796-C-T c.13717G>A p.E4573K Missense 27/27 - 5
4-187509797-G-A c.13716C>T p.F4572= Synonymous 27/27 - 4
4-187509800-G-C c.13713C>G p.H4571Q Missense 27/27 - 1
4-187509800-G-T c.13713C>A p.H4571Q Missense 27/27 - 1
4-187509804-C-A c.13709G>T p.G4570V Missense 27/27 - 2
4-187509805-C-T c.13708G>A p.G4570S Missense 27/27 - 2
4-187509806-G-A c.13707C>T p.D4569= Synonymous 27/27 - 3
4-187509807-T-C c.13706A>G p.D4569G Missense 27/27 - 1
4-187509808-C-T c.13705G>A p.D4569N Missense 27/27 - 1
4-187509809-G-A c.13704C>T p.D4568= Synonymous 27/27 - 2
4-187509809-G-T c.13704C>A p.D4568E Missense 27/27 - 1
4-187509814-C-A c.13699G>T p.G4567W Missense 27/27 - 2
4-187509815-G-A c.13698C>T p.S4566= Synonymous 27/27 - 3
4-187509815-G-T c.13698C>A p.S4566R Missense 27/27 - 1
4-187509820-C-T c.13693G>A p.E4565K Missense 27/27 - 2
4-187509822-T-C c.13691A>G p.Y4564C Missense 27/27 - 2
4-187509823-A-T c.13690T>A p.Y4564N Missense 27/27 - 1
4-187509826-C-A c.13687G>T p.D4563Y Missense 27/27 - 2
4-187509827-A-G c.13686T>C p.S4562= Synonymous 27/27 - 1
4-187509829-T-A c.13684A>T p.S4562C Missense 27/27 - 1
4-187509830-C-A c.13683G>T p.M4561I Missense 27/27 - 2
4-187509832-T-A c.13681A>T p.M4561L Missense 27/27 - 1
4-187509832-T-G c.13681A>C p.M4561L Missense 27/27 - 1
4-187509834-A-G c.13679T>C p.M4560T Missense 27/27 - 1
4-187509835-T-A c.13678A>T p.M4560L Missense 27/27 - 1
4-187509835-T-G c.13678A>C p.M4560L Missense 27/27 - 1
4-187509836-G-A c.13677C>T p.V4559= Synonymous 27/27 - 1
4-187509836-G-C c.13677C>G p.V4559= Synonymous 27/27 - 1
4-187509836-G-T c.13677C>A p.V4559= Synonymous 27/27 - 1
4-187509838-C-T c.13675G>A p.V4559I Missense 27/27 - 1
4-187509840-T-A c.13673A>T p.E4558V Missense 27/27 - 1
4-187509841-C-G c.13672G>C p.E4558Q Missense 27/27 - 1
4-187509841-C-T c.13672G>A p.E4558K Missense 27/27 - 1
4-187509842-G-C c.13671C>G p.S4557= Synonymous 27/27 - 1
4-187509843-G-A c.13670C>T p.S4557F Missense 27/27 - 5
4-187509843-G-T c.13670C>A p.S4557Y Missense 27/27 - 3
4-187509852-T-C c.13661A>G p.E4554G Missense 27/27 - 1
4-187509853-C-T c.13660G>A p.E4554K Missense 27/27 - 5
4-187509854-G-A c.13659C>T p.C4553= Synonymous 27/27 - 2
4-187509859-A-G c.13654T>C p.C4552R Missense 27/27 - 2
4-187509861-G-C c.13652C>G p.A4551G Missense 27/27 - 14
4-187509858-CAGGCTGACACGTCAGAGCAGG-C c.13634_13654del p.S4545_A4551del InFrameDeletion 27/27 - 1
4-187509864-G-C c.13649C>G p.S4550* Nonsense 27/27 - 1
4-187509868-C-T c.13645G>A p.V4549M Missense 27/27 - 1
4-187509869-G-A c.13644C>T p.D4548= Synonymous 27/27 - 1
4-187509869-G-T c.13644C>A p.D4548E Missense 27/27 - 1
4-187509874-A-G c.13639T>C p.S4547P Missense 27/27 - 1
4-187509876-C-T c.13637G>A p.C4546Y Missense 27/27 - 1
4-187509881-G-A c.13632C>T p.A4544= Synonymous 27/27 - 1
4-187509881-G-C c.13632C>G p.A4544= Synonymous 27/27 - 1
4-187509881-GG-CT c.13631_13632delinsAG p.A4544E Missense 27/27 - 1
4-187509881-G-T c.13632C>A p.A4544= Synonymous 27/27 - 1
4-187509882-G-A c.13631C>T p.A4544V Missense 27/27 - 1
4-187509883-C-T c.13630G>A p.A4544T Missense 27/27 - 4
4-187509885-G-A c.13628C>T p.T4543I Missense 27/27 - 1
4-187509888-G-GA c.13624dup p.S4542Ffs*7 Frameshift 27/27 - 1
4-187509892-C-T c.13621G>A p.A4541T Missense 27/27 - 2
4-187509893-G-A c.13620C>T p.Y4540= Synonymous 27/27 - 2
4-187509898-C-T c.13615G>A p.V4539M Missense 27/27 - 1
4-187509905-G-A c.13608C>T p.P4536= Synonymous 27/27 - 2
4-187509905-G-C c.13608C>G p.P4536= Synonymous 27/27 - 2
4-187509905-G-T c.13608C>A p.P4536= Synonymous 27/27 - 2
4-187509906-G-C c.13607C>G p.P4536R Missense 27/27 - 1
4-187509907-G-A c.13606C>T p.P4536S Missense 27/27 - 1
4-187509910-T-C c.13603A>G p.M4535V Missense 27/27 - 1
4-187509912-C-A c.13601G>T p.S4534I Missense 27/27 - 1
4-187509915-T-C c.13598A>G p.E4533G Missense 27/27 - 1
4-187509915-T-G c.13598A>C p.E4533A Missense 27/27 - 1
4-187509916-C-T c.13597G>A p.E4533K Missense 27/27 - 1
4-187509917-G-A c.13596C>T p.V4532= Synonymous 27/27 - 2
4-187509922-C-A c.13591G>T p.A4531S Missense 27/27 - 1
4-187509922-C-T c.13591G>A p.A4531T Missense 27/27 - 3
4-187509923-G-A c.13590C>T p.P4530= Synonymous 27/27 - 1
4-187509923-G-C c.13590C>G p.P4530= Synonymous 27/27 - 1
4-187509923-G-T c.13590C>A p.P4530= Synonymous 27/27 - 1
4-187509925-G-A c.13588C>T p.P4530S Missense 27/27 - 1
4-187509926-C-A c.13587G>T p.A4529= Synonymous 27/27 - 1
4-187509926-C-G c.13587G>C p.A4529= Synonymous 27/27 - 1
4-187509926-C-T c.13587G>A p.A4529= Synonymous 27/27 - 3
4-187509927-G-A c.13586C>T p.A4529V Missense 27/27 - 1
4-187509927-G-T c.13586C>A p.A4529E Missense 27/27 - 1
4-187509931-C-T c.13582G>A p.E4528K Missense 27/27 - 8
4-187509932-G-A c.13581C>T p.F4527= Synonymous 27/27 - 3
4-187509932-G-T c.13581C>A p.F4527L Missense 27/27 - 2
4-187509932-G-C c.13581C>G p.F4527L Missense 27/27 - 1
4-187509934-A-G c.13579T>C p.F4527L Missense 27/27 - 1
4-187509934-A-T c.13579T>A p.F4527I Missense 27/27 - 1
4-187509936-T-A c.13577A>T p.H4526L Missense 27/27 - 1
4-187509943-G-A c.13570C>T p.Q4524* Nonsense 27/27 - 1
4-187509944-A-C c.13569T>G p.Y4523* Nonsense 27/27 - 1
4-187509944-A-T c.13569T>A p.Y4523* Nonsense 27/27 - 2
4-187509949-C-A c.13564G>T p.G4522W Missense 27/27 - 1
4-187509951-G-T c.13562C>A p.P4521Q Missense 27/27 - 1
4-187509952-G-A c.13561C>T p.P4521S Missense 27/27 - 1
4-187509953-C-G c.13560G>C p.P4520= Synonymous 27/27 - 1
4-187509954-G-T c.13559C>A p.P4520Q Missense 27/27 - 2
4-187509955-G-T c.13558C>A p.P4520T Missense 27/27 - 1
4-187509957-T-G c.13556A>C p.Y4519S Missense 27/27 - 5
4-187509957-T-TA c.13555dup p.Y4519Lfs*30 Frameshift 27/27 - 1
4-187509961-G-A c.13552C>T p.P4518S Missense 27/27 - 9
4-187509959-AG-A c.13553del p.P4518Lfs*43 Frameshift 27/27 - 1
4-187509963-G-A c.13550C>T p.A4517V Missense 27/27 - 1
4-187509964-C-T c.13549G>A p.A4517T Missense 27/27 - 2
4-187509967-G-A c.13546C>T p.H4516Y Missense 27/27 - 3
4-187509968-G-T c.13545C>A p.P4515= Synonymous 27/27 - 1
4-187509969-G-A c.13544C>T p.P4515L Missense 27/27 - 1
4-187509973-C-A c.13540G>T p.E4514* Nonsense 27/27 - 4
4-187509973-C-G c.13540G>C p.E4514Q Missense 27/27 - 1
4-187509977-A-C c.13536T>G p.C4512W Missense 27/27 - 1
4-187509981-G-A c.13532C>T p.T4511I Missense 27/27 - 3
4-187509983-A-G c.13530T>C p.S4510= Synonymous 27/27 - 1
4-187509991-C-G c.13522G>C p.E4508Q Missense 27/27 - 1
4-187509992-A-C c.13521T>G p.G4507= Synonymous 27/27 - 1
4-187509992-A-G c.13521T>C p.G4507= Synonymous 27/27 - 1
4-187509992-A-T c.13521T>A p.G4507= Synonymous 27/27 - 1
4-187509996-G-C c.13517C>G p.T4506S Missense 27/27 - 1
4-187509997-T-A c.13516A>T p.T4506S Missense 27/27 - 1
4-187509997-T-G c.13516A>C p.T4506P Missense 27/27 - 1
4-187509999-C-A c.13514G>T p.G4505V Missense 27/27 - 1
4-187509998-GC-G c.13514del p.G4505Afs*56 Frameshift 27/27 - 1
4-187510003-T-C c.13510A>G p.K4504E Missense 27/27 - 2
4-187510004-T-A c.13509A>T p.T4503= Synonymous 27/27 - 1
4-187510004-T-C c.13509A>G p.T4503= Synonymous 27/27 - 1
4-187510004-T-G c.13509A>C p.T4503= Synonymous 27/27 - 1
4-187510009-G-A c.13504C>T p.Q4502* Nonsense 27/27 - 1
4-187510009-G-C c.13504C>G p.Q4502E Missense 27/27 - 1
4-187510011-G-A c.13502C>T p.P4501L Missense 27/27 - 1
4-187510015-TC-T c.13498del p.E4500Nfs*61 Frameshift 27/27 - 1
4-187510016-A-C c.13497T>G p.S4499= Synonymous 27/27 - 1
4-187510016-A-G c.13497T>C p.S4499= Synonymous 27/27 - 1
4-187510016-A-T c.13497T>A p.S4499= Synonymous 27/27 - 1
4-187510017-G-A c.13496C>T p.S4499F Missense 27/27 - 1
4-187510023-T-C c.13490A>G p.D4497G Missense 27/27 - 1
4-187510024-C-T c.13489G>A p.D4497N Missense 27/27 - 4
4-187510029-G-A c.13484C>T p.P4495L Missense 27/27 - 2
4-187510030-G-A c.13483C>T p.P4495S Missense 27/27 - 6
4-187510032-T-G c.13481A>C p.Y4494S Missense 27/27 - 1
4-187510034-A-C c.13479T>G p.F4493L Missense 27/27 - 1
4-187510034-A-T c.13479T>A p.F4493L Missense 27/27 - 1
4-187510036-A-G c.13477T>C p.F4493L Missense 27/27 - 1
4-187510037-A-C c.13476T>G p.N4492K Missense 27/27 - 5
4-187510037-A-T c.13476T>A p.N4492K Missense 27/27 - 6
4-187510039-T-C c.13474A>G p.N4492D Missense 27/27 - 1
4-187510050-T-C c.13463A>G p.Q4488R Missense 27/27 - 1
4-187510051-G-A c.13462C>T p.Q4488* Nonsense 27/27 - 1
4-187510051-G-C c.13462C>G p.Q4488E Missense 27/27 - 1
4-187510061-G-C c.13452C>G p.F4484L Missense 27/27 - 1
4-187510061-G-T c.13452C>A p.F4484L Missense 27/27 - 1
4-187510063-A-G c.13450T>C p.F4484L Missense 27/27 - 2
4-187510065-C-T c.13448G>A p.R4483K Missense 27/27 - 3
4-187510071-C-A c.13442G>T p.R4481L Missense 27/27 - 1
4-187510071-C-T c.13442G>A p.R4481Q Missense 27/27 - 3
4-187510072-G-A c.13441C>T p.R4481W Missense 27/27 - 2
4-187510072-G-T c.13441C>A p.R4481= Synonymous 27/27 - 1
4-187510077-C-A c.13436G>T p.R4479I Missense 27/27 - 1
4-187510077-C-G c.13436G>C p.R4479T Missense 27/27 - 2
4-187510086-G-T c.13427C>A p.S4476Y Missense 27/27 - 1
4-187510090-C-T c.13423G>A p.G4475S Missense 27/27 - 1
4-187510091-C-A c.13422G>T p.L4474F Missense 27/27 - 2
4-187510091-C-G c.13422G>C p.L4474F Missense 27/27 - 2
4-187510093-A-C c.13420T>G p.L4474V Missense 27/27 - 2
4-187510097-A-C c.13416T>G p.G4472= Synonymous 27/27 - 2
4-187510097-A-G c.13416T>C p.G4472= Synonymous 27/27 - 2
4-187510097-A-T c.13416T>A p.G4472= Synonymous 27/27 - 2
4-187510098-C-T c.13415G>A p.G4472D Missense 27/27 - 1
4-187510099-C-A c.13414G>T p.G4472C Missense 27/27 - 1
4-187510099-C-G c.13414G>C p.G4472R Missense 27/27 - 1
4-187510099-C-T c.13414G>A p.G4472S Missense 27/27 - 1
4-187510100-C-A c.13413G>T p.A4471= Synonymous 27/27 - 1
4-187510100-C-G c.13413G>C p.A4471= Synonymous 27/27 - 1
4-187510100-C-T c.13413G>A p.A4471= Synonymous 27/27 - 1
4-187510101-G-A c.13412C>T p.A4471V Missense 27/27 - 3
4-187510102-C-T c.13411G>A p.A4471T Missense 27/27 - 2
4-187510103-G-A c.13410C>T p.A4470= Synonymous 27/27 - 3
4-187510103-G-C c.13410C>G p.A4470= Synonymous 27/27 - 1
4-187510103-G-T c.13410C>A p.A4470= Synonymous 27/27 - 1
4-187510104-G-A c.13409C>T p.A4470V Missense 27/27 - 1
4-187510104-GCAGGCATGTCT-G c.13398_13408del p.R4466Sfs*4 Frameshift 27/27 - 1
4-187510107-G-C c.13406C>G p.P4469R Missense 27/27 - 1
4-187510108-G-A c.13405C>T p.P4469S Missense 27/27 - 3
4-187510108-G-T c.13405C>A p.P4469T Missense 27/27 - 1
4-187510111-T-C c.13402A>G p.M4468V Missense 27/27 - 1
4-187510115-T-C c.13398A>G p.R4466= Synonymous 27/27 - 2
4-187510117-T-C c.13396A>G p.R4466G Missense 27/27 - 3
4-187510119-G-A c.13394C>T p.P4465L Missense 27/27 - 1
4-187510123-G-A c.13390C>T p.P4464S Missense 27/27 - 2
4-187510129-T-C c.13384A>G p.I4462V Missense 27/27 - 1
4-187510131-G-A c.13382C>T p.S4461F Missense 27/27 - 2
4-187510139-C-T c.13374G>A p.Q4458= Synonymous 27/27 - 1
4-187510141-G-A c.13372C>T p.Q4458* Nonsense 27/27 - 2
4-187510141-G-C c.13372C>G p.Q4458E Missense 27/27 - 1
4-187510145-G-A c.13368C>T p.S4456= Synonymous 27/27 - 1
4-187510145-GCT-TCA c.13366_13368delinsTGA p.S4456* Nonsense 27/27 - 1
4-187510146-C-T c.13367G>A p.S4456N Missense 27/27 - 4
4-187510146-CT-GG c.13366_13367delinsCC p.S4456P Missense 27/27 - 1
4-187510151-T-C c.13362A>G p.E4454= Synonymous 27/27 - 1
4-187510153-C-T c.13360G>A p.E4454K Missense 27/27 - 11
4-187510154-G-T c.13359C>A p.P4453= Synonymous 27/27 - 2
4-187510156-G-A c.13357C>T p.P4453S Missense 27/27 - 1
4-187510157-C-A c.13356G>T p.P4452= Synonymous 27/27 - 1
4-187510157-C-G c.13356G>C p.P4452= Synonymous 27/27 - 3
4-187510157-C-T c.13356G>A p.P4452= Synonymous 27/27 - 3
4-187510158-G-A c.13355C>T p.P4452L Missense 27/27 - 1
4-187510158-G-T c.13355C>A p.P4452Q Missense 27/27 - 1
4-187510159-G-T c.13354C>A p.P4452T Missense 27/27 - 6
4-187510163-C-T c.13350G>A p.P4450= Synonymous 27/27 - 1
4-187510164-G-A c.13349C>T p.P4450L Missense 27/27 - 3
4-187510167-G-T c.13346C>A p.P4449Q Missense 27/27 - 1
4-187510172-C-T c.13341G>A p.E4447= Synonymous 27/27 - 1
4-187510177-C-A c.13336G>T p.D4446Y Missense 27/27 - 1
4-187510177-C-T c.13336G>A p.D4446N Missense 27/27 - 2
4-187510179-G-A c.13334C>T p.A4445V Missense 27/27 - 2
4-187510183-C-T c.13330G>A p.A4444T Missense 27/27 - 1
4-187510185-G-T c.13328C>A p.P4443H Missense 27/27 - 1
4-187510186-G-A c.13327C>T p.P4443S Missense 27/27 - 4
4-187510187-G-A c.13326C>T p.F4442= Synonymous 27/27 - 2
4-187510192-C-A c.13321G>T p.D4441Y Missense 27/27 - 2
4-187510192-C-T c.13321G>A p.D4441N Missense 27/27 - 2
4-187510195-C-T c.13318G>A p.E4440K Missense 27/27 - 1
4-187510198-G-T c.13315C>A p.P4439T Missense 27/27 - 2
4-187510196-TG-T c.13316del p.P4439Qfs*48 Frameshift 27/27 - 1
4-187510204-G-C c.13309C>G p.P4437A Missense 27/27 - 1
4-187510207-G-A c.13306C>T p.P4436S Missense 27/27 - 1
4-187510208-A-C c.13305T>G p.F4435L Missense 27/27 - 1
4-187510208-A-T c.13305T>A p.F4435L Missense 27/27 - 1
4-187510210-A-G c.13303T>C p.F4435L Missense 27/27 - 1
4-187510213-C-T c.13300G>A p.D4434N Missense 27/27 - 4
4-187510214-A-C c.13299T>G p.S4433R Missense 27/27 - 1
4-187510214-A-T c.13299T>A p.S4433R Missense 27/27 - 1
4-187510216-T-G c.13297A>C p.S4433R Missense 27/27 - 4
4-187510219-C-A c.13294G>T p.E4432* Nonsense 27/27 - 3
4-187510219-C-T c.13294G>A p.E4432K Missense 27/27 - 7
4-187510220-G-A c.13293C>T p.I4431= Synonymous 27/27 - 1
4-187510222-T-C c.13291A>G p.I4431V Missense 27/27 - 1
4-187510225-C-G c.13288G>C p.D4430H Missense 27/27 - 1
4-187510225-C-T c.13288G>A p.D4430N Missense 27/27 - 3
4-187510226-G-A c.13287C>T p.Y4429= Synonymous 27/27 - 1
4-187510231-C-A c.13282G>T p.G4428C Missense 27/27 - 2
4-187510234-C-T c.13279G>A p.G4427R Missense 27/27 - 1
4-187510237-G-A c.13276C>T p.P4426S Missense 27/27 - 3
4-187510238-G-A c.13275C>T p.Y4425= Synonymous 27/27 - 1
4-187510240-A-G c.13273T>C p.Y4425H Missense 27/27 - 3
4-187510243-A-T c.13270T>A p.Y4424N Missense 27/27 - 1
4-187510244-G-C c.13269C>G p.D4423E Missense 27/27 - 1
4-187510244-G-T c.13269C>A p.D4423E Missense 27/27 - 2
4-187510245-T-A c.13268A>T p.D4423V Missense 27/27 - 1
4-187510245-T-C c.13268A>G p.D4423G Missense 27/27 - 2
4-187510247-C-A c.13266G>T p.T4422= Synonymous 27/27 - 2
4-187510247-C-G c.13266G>C p.T4422= Synonymous 27/27 - 2
4-187510247-C-T c.13266G>A p.T4422= Synonymous 27/27 - 2
4-187510249-T-C c.13264A>G p.T4422A Missense 27/27 - 2
4-187510252-C-T c.13261G>A p.D4421N Missense 27/27 - 2
4-187510253-G-A c.13260C>T p.I4420= Synonymous 27/27 - 4
4-187510256-G-A c.13257C>T p.A4419= Synonymous 27/27 - 1
4-187510256-G-C c.13257C>G p.A4419= Synonymous 27/27 - 1
4-187510256-G-T c.13257C>A p.A4419= Synonymous 27/27 - 1
4-187510257-G-A c.13256C>T p.A4419V Missense 27/27 - 1
4-187510258-C-A c.13255G>T p.A4419S Missense 27/27 - 3
4-187510258-C-T c.13255G>A p.A4419T Missense 27/27 - 6
4-187510264-G-A c.13249C>T p.P4417S Missense 27/27 - 2
4-187510264-G-T c.13249C>A p.P4417T Missense 27/27 - 1
4-187510265-A-C c.13248T>G p.D4416E Missense 27/27 - 1
4-187510265-A-T c.13248T>A p.D4416E Missense 27/27 - 1
4-187510270-C-T c.13243G>A p.A4415T Missense 27/27 - 1
4-187510272-G-A c.13241C>T p.S4414L Missense 27/27 - 1
4-187510279-G-T c.13234C>A p.L4412M Missense 27/27 - 1
4-187510280-G-A c.13233C>T p.P4411= Synonymous 27/27 - 9
4-187510280-G-C c.13233C>G p.P4411= Synonymous 27/27 - 2
4-187510280-G-T c.13233C>A p.P4411= Synonymous 27/27 - 2
4-187510291-C-A c.13222G>T p.E4408* Nonsense 27/27 - 1
4-187510294-C-G c.13219G>C p.D4407H Missense 27/27 - 3
4-187510294-CAATCACCTCATAGTTGGGG-C c.13200_13218del p.F4400Lfs*81 Frameshift 27/27 - 1
4-187510300-C-G c.13213G>C p.V4405L Missense 27/27 - 1
4-187510304-A-C c.13209T>G p.Y4403* Nonsense 27/27 - 1
4-187510305-T-C c.13208A>G p.Y4403C Missense 27/27 - 1
4-187510308-T-G c.13205A>C p.N4402T Missense 27/27 - 1
4-187510307-G-GT c.13205dup p.N4402Kfs*3 Frameshift 27/27 - 1
4-187510311-G-A c.13202C>T p.P4401L Missense 27/27 - 1
4-187510313-G-A c.13200C>T p.F4400= Synonymous 27/27 - 3
4-187510319-T-A c.13194A>T p.Q4398H Missense 27/27 - 1
4-187510319-T-C c.13194A>G p.Q4398= Synonymous 27/27 - 1
4-187510320-T-A c.13193A>T p.Q4398L Missense 27/27 - 2
4-187510321-G-T c.13192C>A p.Q4398K Missense 27/27 - 1
4-187510328-C-A c.13185G>T p.P4395= Synonymous 27/27 - 1
4-187510328-C-G c.13185G>C p.P4395= Synonymous 27/27 - 1
4-187510328-C-T c.13185G>A p.P4395= Synonymous 27/27 - 1
4-187510329-G-A c.13184C>T p.P4395L Missense 27/27 - 1
4-187510330-G-A c.13183C>T p.P4395S Missense 27/27 - 2
4-187510333-G-C c.13180C>G p.L4394V Missense 27/27 - 1
4-187510335-G-T c.13178C>A p.P4393H Missense 27/27 - 4
4-187510339-C-T c.13174G>A p.V4392I Missense 27/27 - 6
4-187510340-G-A c.13173C>T p.S4391= Synonymous 27/27 - 1
4-187510341-C-G c.13172G>C p.S4391T Missense 27/27 - 1
4-187510345-G-A c.13168C>T p.P4390S Missense 27/27 - 1
4-187510348-T-C c.13165A>G p.M4389V Missense 27/27 - 1
4-187510357-A-G c.13156T>C p.S4386P Missense 27/27 - 8
4-187510359-G-A c.13154C>T p.T4385I Missense 27/27 - 1
4-187510360-T-C c.13153A>G p.T4385A Missense 27/27 - 1
4-187510363-C-A c.13150G>T p.D4384Y Missense 27/27 - 1
4-187510369-G-A c.13144C>T p.H4382Y Missense 27/27 - 1
4-187510373-C-A c.13140G>T p.G4380= Synonymous 27/27 - 1
4-187510374-C-A c.13139G>T p.G4380V Missense 27/27 - 2
4-187511464-A-C c.13139-1090T>G - IntronicSNV - 26/26 1
4-187511464-A-T c.13139-1090T>A - IntronicSNV - 26/26 1
4-187511699-T-C c.13139-1325A>G - IntronicSNV - 26/26 1
4-187511861-G-A c.13139-1487C>T - IntronicSNV - 26/26 5
4-187513585-G-T c.13139-3211C>A - IntronicSNV - 26/26 4
4-187513623-TA-T c.13138+3219del - IntronicDeletion - 26/26 1
4-187513805-G-A c.13138+3038C>T - IntronicSNV - 26/26 1
4-187513940-A-C c.13138+2903T>G - IntronicSNV - 26/26 2
4-187516655-T-A c.13138+188A>T - IntronicSNV - 26/26 3
4-187516655-T-G c.13138+188A>C - IntronicSNV - 26/26 2
4-187516776-A-G c.13138+67T>C - IntronicSNV - 26/26 1
4-187516789-A-C c.13138+54T>G - IntronicSNV - 26/26 1
4-187516841-A-G c.13138+2T>C - IntronicSNV - 26/26 1
4-187516842-C-A c.13138+1G>T - IntronicSNV - 26/26 1
4-187516842-C-T c.13138+1G>A - IntronicSNV - 26/26 1
4-187516843-C-A c.13138G>T p.G4380W Missense 26/27 - 1
4-187516843-C-T c.13138G>A p.G4380R Missense 26/27 - 1
4-187516845-T-A c.13136A>T p.N4379I Missense 26/27 - 2
4-187516845-T-C c.13136A>G p.N4379S Missense 26/27 - 6
4-187516848-T-C c.13133A>G p.D4378G Missense 26/27 - 1
4-187516851-T-A c.13130A>T p.D4377V Missense 26/27 - 1
4-187516852-C-G c.13129G>C p.D4377H Missense 26/27 - 1
4-187516852-C-T c.13129G>A p.D4377N Missense 26/27 - 4
4-187516853-G-A c.13128C>T p.C4376= Synonymous 26/27 - 4
4-187516856-C-A c.13125G>T p.S4375= Synonymous 26/27 - 1
4-187516856-C-G c.13125G>C p.S4375= Synonymous 26/27 - 1
4-187516856-C-T c.13125G>A p.S4375= Synonymous 26/27 - 1
4-187516857-G-A c.13124C>T p.S4375L Missense 26/27 - 10
4-187516859-T-A c.13122A>T p.E4374D Missense 26/27 - 2
4-187516859-T-G c.13122A>C p.E4374D Missense 26/27 - 1
4-187516861-C-A c.13120G>T p.E4374* Nonsense 26/27 - 2
4-187516861-C-T c.13120G>A p.E4374K Missense 26/27 - 2
4-187516863-G-A c.13118C>T p.S4373F Missense 26/27 - 4
4-187516868-G-C c.13113C>G p.F4371L Missense 26/27 - 4
4-187516868-G-T c.13113C>A p.F4371L Missense 26/27 - 4
4-187516870-A-G c.13111T>C p.F4371L Missense 26/27 - 3
4-187516872-G-C c.13109C>G p.S4370C Missense 26/27 - 1
4-187516873-A-G c.13108T>C p.S4370P Missense 26/27 - 1
4-187516874-G-A c.13107C>T p.S4369= Synonymous 26/27 - 1
4-187516874-G-C c.13107C>G p.S4369R Missense 26/27 - 1
4-187516874-G-T c.13107C>A p.S4369R Missense 26/27 - 1
4-187516876-T-G c.13105A>C p.S4369R Missense 26/27 - 1
4-187516875-CT-AA c.13105_13106delinsTT p.S4369F Missense 26/27 - 1
4-187516880-A-C c.13101T>G p.S4367= Synonymous 26/27 - 3
4-187516880-A-G c.13101T>C p.S4367= Synonymous 26/27 - 22
4-187516880-A-T c.13101T>A p.S4367= Synonymous 26/27 - 15
4-187516881-G-A c.13100C>T p.S4367F Missense 26/27 - 5
4-187516881-GA-AT c.13099_13100delinsAT p.S4367I Missense 26/27 - 1
4-187516881-G-C c.13100C>G p.S4367C Missense 26/27 - 4
4-187516883-C-A c.13098G>T p.Q4366H Missense 26/27 - 1
4-187516883-C-G c.13098G>C p.Q4366H Missense 26/27 - 1
4-187516888-C-T c.13093G>A p.V4365M Missense 26/27 - 1
4-187516889-T-A c.13092A>T p.E4364D Missense 26/27 - 1
4-187516889-T-G c.13092A>C p.E4364D Missense 26/27 - 1
4-187516891-C-T c.13090G>A p.E4364K Missense 26/27 - 3
4-187516892-A-G c.13089T>C p.S4363= Synonymous 26/27 - 1
4-187516893-GA-TT c.13087_13088delinsAA p.S4363N Missense 26/27 - 1
4-187516899-C-T c.13082G>A p.S4361N Missense 26/27 - 1
4-187516904-CCCG-C c.13075_13077del p.R4359del InFrameDeletion 26/27 - 1
4-187516905-C-A c.13076G>T p.R4359L Missense 26/27 - 4
4-187516905-C-T c.13076G>A p.R4359Q Missense 26/27 - 2
4-187516908-G-A c.13073C>T p.A4358V Missense 26/27 - 1
4-187516911-C-T c.13070G>A p.S4357N Missense 26/27 - 1
4-187516917-G-A c.13064C>T p.P4355L Missense 26/27 - 6
4-187516919-C-T c.13062G>A p.Q4354= Synonymous 26/27 - 1
4-187516923-G-A c.13058C>T p.S4353F Missense 26/27 - 1
4-187516926-G-C c.13055C>G p.P4352R Missense 26/27 - 1
4-187516927-G-A c.13054C>T p.P4352S Missense 26/27 - 2
4-187516927-G-C c.13054C>G p.P4352A Missense 26/27 - 2
4-187516936-C-G c.13045G>C p.E4349Q Missense 26/27 - 1
4-187516936-C-T c.13045G>A p.E4349K Missense 26/27 - 1
4-187516939-G-T c.13042C>A p.L4348I Missense 26/27 - 1
4-187516942-G-A c.13039C>T p.P4347S Missense 26/27 - 7
4-187516942-G-C c.13039C>G p.P4347A Missense 26/27 - 1
4-187516943-C-A c.13038G>T p.K4346N Missense 26/27 - 2
4-187516943-C-G c.13038G>C p.K4346N Missense 26/27 - 1
4-187516947-T-C c.13034A>G p.K4345R Missense 26/27 - 1
4-187516954-G-A c.13027C>T p.L4343F Missense 26/27 - 1
4-187516958-G-A c.13023C>T p.P4341= Synonymous 26/27 - 1
4-187516958-G-C c.13023C>G p.P4341= Synonymous 26/27 - 1
4-187516958-G-T c.13023C>A p.P4341= Synonymous 26/27 - 2
4-187516959-G-A c.13022C>T p.P4341L Missense 26/27 - 1
4-187516959-G-T c.13022C>A p.P4341H Missense 26/27 - 1
4-187516960-G-A c.13021C>T p.P4341S Missense 26/27 - 3
4-187516966-G-A c.13015C>T p.L4339F Missense 26/27 - 1
4-187516967-A-G c.13014T>C p.D4338= Synonymous 26/27 - 2
4-187516969-C-T c.13012G>A p.D4338N Missense 26/27 - 1
4-187516972-C-T c.13009G>A p.V4337M Missense 26/27 - 1
4-187516977-T-C c.13004A>G p.K4335R Missense 26/27 - 1
4-187517022-C-T c.13001-42G>A - IntronicSNV - 25/26 2
4-187517611-A-T c.13000+83T>A - IntronicSNV - 25/26 1
4-187517642-C-T c.13000+52G>A - IntronicSNV - 25/26 1
4-187517662-A-C c.13000+32T>G - IntronicSNV - 25/26 1
4-187517696-T-TTA c.12997_12998insTA p.D4333Vfs*17 Frameshift 25/27 - 1
4-187517697-C-T c.12997G>A p.D4333N Missense 25/27 - 2
4-187517702-T-C c.12992A>G p.D4331G Missense 25/27 - 1
4-187517703-C-A c.12991G>T p.D4331Y Missense 25/27 - 1
4-187517703-C-G c.12991G>C p.D4331H Missense 25/27 - 1
4-187517703-C-T c.12991G>A p.D4331N Missense 25/27 - 2
4-187517708-T-G c.12986A>C p.D4329A Missense 25/27 - 1
4-187517709-C-G c.12985G>C p.D4329H Missense 25/27 - 1
4-187517709-C-T c.12985G>A p.D4329N Missense 25/27 - 2
4-187517710-C-T c.12984G>A p.W4328* Nonsense 25/27 - 1
4-187517714-C-A c.12980G>T p.S4327I Missense 25/27 - 4
4-187517722-C-A c.12972G>T p.Q4324H Missense 25/27 - 1
4-187517722-C-G c.12972G>C p.Q4324H Missense 25/27 - 1
4-187517722-C-T c.12972G>A p.Q4324= Synonymous 25/27 - 1
4-187517723-T-A c.12971A>T p.Q4324L Missense 25/27 - 2
4-187517727-T-C c.12967A>G p.I4323V Missense 25/27 - 1
4-187517728-G-A c.12966C>T p.S4322= Synonymous 25/27 - 2
4-187517728-G-C c.12966C>G p.S4322= Synonymous 25/27 - 1
4-187517728-G-T c.12966C>A p.S4322= Synonymous 25/27 - 1
4-187517729-G-A c.12965C>T p.S4322F Missense 25/27 - 3
4-187517730-A-G c.12964T>C p.S4322P Missense 25/27 - 1
4-187517733-C-T c.12961G>A p.D4321N Missense 25/27 - 1
4-187517737-G-A c.12957C>T p.D4319= Synonymous 25/27 - 1
4-187517738-T-C c.12956A>G p.D4319G Missense 25/27 - 1
4-187517739-C-G c.12955G>C p.D4319H Missense 25/27 - 1
4-187517744-G-A c.12950C>T p.P4317L Missense 25/27 - 6
4-187517744-GG-AA c.12949_12950delinsTT p.P4317F Missense 25/27 - 1
4-187517745-G-A c.12949C>T p.P4317S Missense 25/27 - 3
4-187517746-G-T c.12948C>A p.S4316= Synonymous 25/27 - 1
4-187517748-A-T c.12946T>A p.S4316T Missense 25/27 - 1
4-187517753-G-A c.12941C>T p.S4314L Missense 25/27 - 4
4-187517757-G-C c.12937C>G p.P4313A Missense 25/27 - 1
4-187517758-G-A c.12936C>T p.P4312= Synonymous 25/27 - 10
4-187517758-G-C c.12936C>G p.P4312= Synonymous 25/27 - 2
4-187517758-G-T c.12936C>A p.P4312= Synonymous 25/27 - 2
4-187517755-AG-A c.12938del p.P4313Lfs*36 Frameshift 25/27 - 3
4-187517760-G-A c.12934C>T p.P4312S Missense 25/27 - 1
4-187517761-T-A c.12933A>T p.P4311= Synonymous 25/27 - 2
4-187517761-T-C c.12933A>G p.P4311= Synonymous 25/27 - 2
4-187517761-T-G c.12933A>C p.P4311= Synonymous 25/27 - 2
4-187517762-G-A c.12932C>T p.P4311L Missense 25/27 - 2
4-187517763-G-A c.12931C>T p.P4311S Missense 25/27 - 1
4-187517765-G-A c.12929C>T p.P4310L Missense 25/27 - 3
4-187517765-G-C c.12929C>G p.P4310R Missense 25/27 - 1
4-187517761-TG-T c.12932del p.P4311Hfs*38 Frameshift 25/27 - 4
4-187517766-G-A c.12928C>T p.P4310S Missense 25/27 - 1
4-187517766-G-T c.12928C>A p.P4310T Missense 25/27 - 1
4-187517767-A-C c.12927T>G p.P4309= Synonymous 25/27 - 1
4-187517767-A-G c.12927T>C p.P4309= Synonymous 25/27 - 1
4-187517767-A-T c.12927T>A p.P4309= Synonymous 25/27 - 1
4-187517769-G-A c.12925C>T p.P4309S Missense 25/27 - 1
4-187517769-G-C c.12925C>G p.P4309A Missense 25/27 - 3
4-187517773-G-C c.12921C>G p.N4307K Missense 25/27 - 1
4-187517773-G-T c.12921C>A p.N4307K Missense 25/27 - 1
4-187517779-C-A c.12915G>T p.A4305= Synonymous 25/27 - 3
4-187517779-C-G c.12915G>C p.A4305= Synonymous 25/27 - 3
4-187517779-C-T c.12915G>A p.A4305= Synonymous 25/27 - 5
4-187517780-G-A c.12914C>T p.A4305V Missense 25/27 - 4
4-187517783-A-C c.12911T>G p.V4304G Missense 25/27 - 1
4-187517784-C-T c.12910G>A p.V4304M Missense 25/27 - 7
4-187517785-G-A c.12909C>T p.S4303= Synonymous 25/27 - 2
4-187517789-C-T c.12905G>A p.C4302Y Missense 25/27 - 1
4-187517794-C-A c.12900G>T p.A4300= Synonymous 25/27 - 2
4-187517794-C-G c.12900G>C p.A4300= Synonymous 25/27 - 1
4-187517794-C-T c.12900G>A p.A4300= Synonymous 25/27 - 1
4-187517795-G-A c.12899C>T p.A4300V Missense 25/27 - 3
4-187517797-C-A c.12897G>T p.V4299= Synonymous 25/27 - 1
4-187517797-C-G c.12897G>C p.V4299= Synonymous 25/27 - 1
4-187517797-C-T c.12897G>A p.V4299= Synonymous 25/27 - 1
4-187517807-C-A c.12887G>T p.R4296L Missense 25/27 - 4
4-187517807-C-T c.12887G>A p.R4296Q Missense 25/27 - 3
4-187517811-G-A c.12883C>T p.H4295Y Missense 25/27 - 1
4-187517814-C-A c.12880G>T p.G4294W Missense 25/27 - 2
4-187517815-CG-C c.12879del p.H4293Qfs*56 Frameshift 25/27 - 1
4-187517815-G-A c.12879C>T p.H4293= Synonymous 25/27 - 2
4-187517817-G-A c.12877C>T p.H4293Y Missense 25/27 - 2
4-187517822-G-A c.12872C>T p.S4291F Missense 25/27 - 6
4-187517822-G-T c.12872C>A p.S4291Y Missense 25/27 - 1
4-187517826-C-A c.12868G>T p.E4290* Nonsense 25/27 - 5
4-187517826-C-CT c.12867_12868insA p.E4290Rfs*30 Frameshift 25/27 - 1
4-187517826-C-T c.12868G>A p.E4290K Missense 25/27 - 2
4-187517827-G-A c.12867C>T p.P4289= Synonymous 25/27 - 2
4-187517827-G-C c.12867C>G p.P4289= Synonymous 25/27 - 1
4-187517827-G-T c.12867C>A p.P4289= Synonymous 25/27 - 1
4-187517828-G-A c.12866C>T p.P4289L Missense 25/27 - 2
4-187517828-G-T c.12866C>A p.P4289H Missense 25/27 - 1
4-187517826-C-CG c.12867dup p.E4290Rfs*30 Frameshift 25/27 - 2
4-187517837-G-T c.12857C>A p.T4286N Missense 25/27 - 1
4-187517842-G-A c.12852C>T p.F4284= Synonymous 25/27 - 1
4-187517846-T-C c.12848A>G p.E4283G Missense 25/27 - 1
4-187517847-C-A c.12847G>T p.E4283* Nonsense 25/27 - 2
4-187517847-C-G c.12847G>C p.E4283Q Missense 25/27 - 2
4-187517847-C-T c.12847G>A p.E4283K Missense 25/27 - 9
4-187517848-G-A c.12846C>T p.P4282= Synonymous 25/27 - 7
4-187517848-G-C c.12846C>G p.P4282= Synonymous 25/27 - 2
4-187517848-G-T c.12846C>A p.P4282= Synonymous 25/27 - 2
4-187517849-G-A c.12845C>T p.P4282L Missense 25/27 - 6
4-187517850-G-A c.12844C>T p.P4282S Missense 25/27 - 1
4-187517850-G-C c.12844C>G p.P4282A Missense 25/27 - 1
4-187517856-C-T c.12838G>A p.E4280K Missense 25/27 - 1
4-187517859-G-A c.12835C>T p.P4279S Missense 25/27 - 1
4-187517865-C-G c.12829G>C p.A4277P Missense 25/27 - 1
4-187517867-G-C c.12827C>G p.S4276C Missense 25/27 - 1
4-187517870-C-A c.12824G>T p.G4275V Missense 25/27 - 1
4-187517870-C-G c.12824G>C p.G4275A Missense 25/27 - 1
4-187517871-C-T c.12823G>A p.G4275R Missense 25/27 - 2
4-187517874-C-A c.12820G>T p.E4274* Nonsense 25/27 - 5
4-187517874-C-T c.12820G>A p.E4274K Missense 25/27 - 2
4-187517875-G-A c.12819C>T p.F4273= Synonymous 25/27 - 3
4-187517875-G-T c.12819C>A p.F4273L Missense 25/27 - 4
4-187517875-G-C c.12819C>G p.F4273L Missense 25/27 - 3
4-187517877-A-G c.12817T>C p.F4273L Missense 25/27 - 3
4-187517878-G-A c.12816C>T p.S4272= Synonymous 25/27 - 5
4-187517879-G-A c.12815C>T p.S4272F Missense 25/27 - 3
4-187517884-TCG-CCA c.12808_12810delinsTGG p.R4270W Missense 25/27 - 1
4-187517885-CG-GT c.12808_12809delinsAC p.R4270T Missense 25/27 - 1
4-187517885-C-T c.12809G>A p.R4270Q Missense 25/27 - 1
4-187517886-G-A c.12808C>T p.R4270* Nonsense 25/27 - 4
4-187517903-G-A c.12791C>T p.S4264L Missense 25/27 - 1
4-187517903-G-C c.12791C>G p.S4264* Nonsense 25/27 - 2
4-187517903-G-T c.12791C>A p.S4264* Nonsense 25/27 - 3
4-187517913-G-T c.12781C>A p.P4261T Missense 25/27 - 1
4-187517917-A-G c.12777T>C p.S4259= Synonymous 25/27 - 1
4-187517920-C-A c.12774G>T p.P4258= Synonymous 25/27 - 3
4-187517920-C-G c.12774G>C p.P4258= Synonymous 25/27 - 1
4-187517920-C-T c.12774G>A p.P4258= Synonymous 25/27 - 2
4-187517921-G-T c.12773C>A p.P4258Q Missense 25/27 - 2
4-187517922-G-A c.12772C>T p.P4258S Missense 25/27 - 1
4-187517920-CG-C c.12773del p.P4258Rfs*91 Frameshift 25/27 - 1
4-187517929-G-A c.12765C>T p.S4255= Synonymous 25/27 - 1
4-187517929-G-C c.12765C>G p.S4255= Synonymous 25/27 - 1
4-187517929-G-T c.12765C>A p.S4255= Synonymous 25/27 - 1
4-187517936-G-T c.12758C>A p.P4253H Missense 25/27 - 1
4-187517943-C-A c.12751G>T p.V4251F Missense 25/27 - 1
4-187517945-G-A c.12749C>T p.P4250L Missense 25/27 - 1
4-187517947-C-A c.12747G>T p.V4249= Synonymous 25/27 - 1
4-187517947-C-G c.12747G>C p.V4249= Synonymous 25/27 - 1
4-187517947-C-T c.12747G>A p.V4249= Synonymous 25/27 - 1
4-187517950-C-A c.12744G>T p.Q4248H Missense 25/27 - 2
4-187517950-C-G c.12744G>C p.Q4248H Missense 25/27 - 1
4-187517952-G-T c.12742C>A p.Q4248K Missense 25/27 - 1
4-187517954-G-T c.12740C>A p.P4247H Missense 25/27 - 1
4-187517956-T-A c.12738A>T p.P4246= Synonymous 25/27 - 1
4-187517956-T-C c.12738A>G p.P4246= Synonymous 25/27 - 1
4-187517956-T-G c.12738A>C p.P4246= Synonymous 25/27 - 1
4-187517958-G-GC c.12735_12736insG p.P4246Afs*18 Frameshift 25/27 - 1
4-187517964-C-G c.12730G>C p.D4244H Missense 25/27 - 2
4-187517964-C-T c.12730G>A p.D4244N Missense 25/27 - 1
4-187517970-A-G c.12724T>C p.Y4242H Missense 25/27 - 1
4-187517972-A-C c.12722T>G p.I4241S Missense 25/27 - 1
4-187517979-T-C c.12715A>G p.K4239E Missense 25/27 - 1
4-187517985-G-A c.12709C>T p.L4237= Synonymous 25/27 - 1
4-187517990-G-C c.12704C>G p.S4235C Missense 25/27 - 1
4-187517994-C-G c.12700G>C p.D4234H Missense 25/27 - 1
4-187517995-A-T c.12699T>A p.F4233L Missense 25/27 - 2
4-187517999-T-C c.12695A>G p.Y4232C Missense 25/27 - 4
4-187518002-G-A c.12692C>T p.P4231L Missense 25/27 - 3
4-187518003-G-T c.12691C>A p.P4231T Missense 25/27 - 1
4-187518005-C-A c.12689G>T p.R4230I Missense 25/27 - 1
4-187518010-C-A c.12684G>T p.L4228F Missense 25/27 - 2
4-187518010-C-G c.12684G>C p.L4228F Missense 25/27 - 2
4-187518011-A-T c.12683T>A p.L4228* Nonsense 25/27 - 1
4-187518013-AG-A c.12681del p.L4228Cfs*10 Frameshift 25/27 - 1
4-187518017-G-T c.12677C>A p.A4226D Missense 25/27 - 1
4-187518018-C-T c.12676G>A p.A4226T Missense 25/27 - 3
4-187518019-C-A c.12675G>T p.T4225= Synonymous 25/27 - 1
4-187518019-C-G c.12675G>C p.T4225= Synonymous 25/27 - 1
4-187518019-C-T c.12675G>A p.T4225= Synonymous 25/27 - 4
4-187518020-G-A c.12674C>T p.T4225M Missense 25/27 - 1
4-187518023-G-C c.12671C>G p.A4224G Missense 25/27 - 1
4-187518024-C-T c.12670G>A p.A4224T Missense 25/27 - 7
4-187518025-G-A c.12669C>T p.P4223= Synonymous 25/27 - 1
4-187518025-G-C c.12669C>G p.P4223= Synonymous 25/27 - 1
4-187518025-G-T c.12669C>A p.P4223= Synonymous 25/27 - 1
4-187518026-G-A c.12668C>T p.P4223L Missense 25/27 - 1
4-187518026-G-T c.12668C>A p.P4223H Missense 25/27 - 1
4-187518029-C-T c.12665G>A p.G4222E Missense 25/27 - 1
4-187518037-C-T c.12657G>A p.K4219= Synonymous 25/27 - 1
4-187518038-T-G c.12656A>C p.K4219T Missense 25/27 - 1
4-187518040-G-A c.12654C>T p.D4218= Synonymous 25/27 - 1
4-187518041-T-C c.12653A>G p.D4218G Missense 25/27 - 9
4-187518042-C-A c.12652G>T p.D4218Y Missense 25/27 - 3
4-187518044-T-A c.12650A>T p.K4217I Missense 25/27 - 1
4-187518053-G-T c.12641C>A p.A4214D Missense 25/27 - 1
4-187518054-C-T c.12640G>A p.A4214T Missense 25/27 - 1
4-187518055-C-T c.12639G>A p.Q4213= Synonymous 25/27 - 1
4-187518057-G-A c.12637C>T p.Q4213* Nonsense 25/27 - 1
4-187518060-G-C c.12634C>G p.H4212D Missense 25/27 - 2
4-187518065-T-C c.12629A>G p.K4210R Missense 25/27 - 1
4-187518068-T-A c.12626A>T p.K4209I Missense 25/27 - 2
4-187518069-T-C c.12625A>G p.K4209E Missense 25/27 - 1
4-187518071-C-T c.12623G>A p.R4208Q Missense 25/27 - 3
4-187518072-G-A c.12622C>T p.R4208W Missense 25/27 - 11
4-187518074-C-A c.12620G>T p.S4207I Missense 25/27 - 1
4-187518075-T-A c.12619A>T p.S4207C Missense 25/27 - 3
4-187518078-T-A c.12616A>T p.I4206F Missense 25/27 - 1
4-187518078-T-C c.12616A>G p.I4206V Missense 25/27 - 1
4-187518079-C-A c.12615G>T p.M4205I Missense 25/27 - 2
4-187518079-C-G c.12615G>C p.M4205I Missense 25/27 - 3
4-187518079-C-T c.12615G>A p.M4205I Missense 25/27 - 2
4-187518080-A-T c.12614T>A p.M4205K Missense 25/27 - 1
4-187518081-T-C c.12613A>G p.M4205V Missense 25/27 - 1
4-187518086-C-G c.12608G>C p.R4203P Missense 25/27 - 1
4-187518086-C-T c.12608G>A p.R4203H Missense 25/27 - 1
4-187518087-G-A c.12607C>T p.R4203C Missense 25/27 - 6
4-187518091-G-A c.12603C>T p.L4201= Synonymous 25/27 - 2
4-187518091-G-C c.12603C>G p.L4201= Synonymous 25/27 - 2
4-187518091-G-T c.12603C>A p.L4201= Synonymous 25/27 - 2
4-187518092-A-G c.12602T>C p.L4201P Missense 25/27 - 2
4-187518096-AC-A c.12598del p.V4200Ffs*6 Frameshift 25/27 - 1
4-187518098-A-C c.12596T>G p.F4199C Missense 25/27 - 2
4-187518105-C-T c.12589G>A p.V4197M Missense 25/27 - 1
4-187518118-T-A c.12576A>T p.I4192= Synonymous 25/27 - 1
4-187518120-T-A c.12574A>T p.I4192L Missense 25/27 - 1
4-187518120-T-G c.12574A>C p.I4192L Missense 25/27 - 1
4-187518122-C-A c.12572G>T p.G4191V Missense 25/27 - 1
4-187518123-C-A c.12571G>T p.G4191W Missense 25/27 - 1
4-187518123-C-T c.12571G>A p.G4191R Missense 25/27 - 1
4-187518125-G-T c.12569C>A p.A4190E Missense 25/27 - 1
4-187518126-C-T c.12568G>A p.A4190T Missense 25/27 - 1
4-187518129-C-A c.12565G>T p.V4189F Missense 25/27 - 1
4-187518129-C-T c.12565G>A p.V4189I Missense 25/27 - 1
4-187518131-A-G c.12563T>C p.F4188S Missense 25/27 - 1
4-187518135-C-A c.12559G>T p.V4187L Missense 25/27 - 2
4-187518135-C-G c.12559G>C p.V4187L Missense 25/27 - 1
4-187518133-CACA-C c.12558_12560del p.V4187del InFrameDeletion 25/27 - 1
4-187518138-C-A c.12556G>T p.V4186F Missense 25/27 - 2
4-187518138-C-T c.12556G>A p.V4186I Missense 25/27 - 1
4-187518139-G-A c.12555C>T p.I4185= Synonymous 25/27 - 3
4-187518139-G-T c.12555C>A p.I4185= Synonymous 25/27 - 2
4-187518142-TCC-ACA c.12550_12552delinsTGT p.G4184C Missense 25/27 - 1
4-187518143-C-A c.12551G>T p.G4184V Missense 25/27 - 3
4-187518143-C-T c.12551G>A p.G4184E Missense 25/27 - 1
4-187518144-C-A c.12550G>T p.G4184* Nonsense 25/27 - 1
4-187518145-A-C c.12549T>G p.I4183M Missense 25/27 - 1
4-187518150-C-A c.12544G>T p.G4182* Nonsense 25/27 - 1
4-187518150-C-T c.12544G>A p.G4182R Missense 25/27 - 1
4-187518153-C-A c.12541G>T p.E4181* Nonsense 25/27 - 3
4-187518153-C-T c.12541G>A p.E4181K Missense 25/27 - 3
4-187518154-C-A c.12540G>T p.A4180= Synonymous 25/27 - 4
4-187518154-C-G c.12540G>C p.A4180= Synonymous 25/27 - 2
4-187518154-C-T c.12540G>A p.A4180= Synonymous 25/27 - 3
4-187518155-G-A c.12539C>T p.A4180V Missense 25/27 - 2
4-187518156-C-T c.12538G>A p.A4180T Missense 25/27 - 2
4-187518155-GC-G c.12538del p.A4180Rfs*26 Frameshift 25/27 - 1
4-187518160-C-A c.12534G>T p.G4178= Synonymous 25/27 - 2
4-187518160-C-G c.12534G>C p.G4178= Synonymous 25/27 - 2
4-187518160-C-T c.12534G>A p.G4178= Synonymous 25/27 - 2
4-187518162-C-T c.12532G>A p.G4178R Missense 25/27 - 1
4-187518163-A-C c.12531T>G p.I4177M Missense 25/27 - 1
4-187518164-A-G c.12530T>C p.I4177T Missense 25/27 - 1
4-187518169-C-T c.12525G>A p.W4175* Nonsense 25/27 - 1
4-187518170-C-T c.12524G>A p.W4175* Nonsense 25/27 - 1
4-187518172-C-A c.12522G>T p.P4174= Synonymous 25/27 - 1
4-187518172-C-G c.12522G>C p.P4174= Synonymous 25/27 - 1
4-187518172-C-T c.12522G>A p.P4174= Synonymous 25/27 - 1
4-187518173-G-A c.12521C>T p.P4174L Missense 25/27 - 3
4-187518173-G-T c.12521C>A p.P4174Q Missense 25/27 - 1
4-187518174-G-C c.12520C>G p.P4174A Missense 25/27 - 1
4-187518176-G-A c.12518C>T p.T4173M Missense 25/27 - 6
4-187518179-G-T c.12515C>A p.S4172Y Missense 25/27 - 10
4-187518188-T-C c.12506A>G p.Q4169R Missense 25/27 - 1
4-187518195-G-A c.12499C>T p.P4167S Missense 25/27 - 2
4-187518197-G-A c.12497C>T p.A4166V Missense 25/27 - 6
4-187518199-A-C c.12495T>G p.A4165= Synonymous 25/27 - 1
4-187518199-A-G c.12495T>C p.A4165= Synonymous 25/27 - 1
4-187518199-A-T c.12495T>A p.A4165= Synonymous 25/27 - 1
4-187518201-C-T c.12493G>A p.A4165T Missense 25/27 - 2
4-187518202-A-G c.12492T>C p.D4164= Synonymous 25/27 - 1
4-187518204-C-G c.12490G>C p.D4164H Missense 25/27 - 1
4-187518207-C-A c.12487G>T p.E4163* Nonsense 25/27 - 4
4-187518215-C-T c.12479G>A p.R4160H Missense 25/27 - 2
4-187518216-G-A c.12478C>T p.R4160C Missense 25/27 - 6
4-187518225-A-C c.12469T>G p.Y4157D Missense 25/27 - 1
4-187518228-C-A c.12466G>T p.E4156* Nonsense 25/27 - 1
4-187518228-C-T c.12466G>A p.E4156K Missense 25/27 - 4
4-187518237-A-G c.12457T>C p.C4153R Missense 25/27 - 1
4-187518239-T-C c.12455A>G p.N4152S Missense 25/27 - 1
4-187518240-T-C c.12454A>G p.N4152D Missense 25/27 - 1
4-187518242-C-T c.12452G>A p.C4151Y Missense 25/27 - 2
4-187518245-T-G c.12449A>C p.H4150P Missense 25/27 - 1
4-187518246-G-A c.12448C>T p.H4150Y Missense 25/27 - 5
4-187518246-G-T c.12448C>A p.H4150N Missense 25/27 - 1
4-187518251-G-C c.12443C>G p.S4148C Missense 25/27 - 1
4-187518254-C-T c.12440G>A p.G4147D Missense 25/27 - 8
4-187518255-C-A c.12439G>T p.G4147C Missense 25/27 - 1
4-187518255-C-T c.12439G>A p.G4147S Missense 25/27 - 3
4-187518256-G-A c.12438C>T p.H4146= Synonymous 25/27 - 2
4-187518256-G-C c.12438C>G p.H4146Q Missense 25/27 - 1
4-187518256-G-T c.12438C>A p.H4146Q Missense 25/27 - 2
4-187518259-C-A c.12435G>T p.T4145= Synonymous 25/27 - 3
4-187518259-C-G c.12435G>C p.T4145= Synonymous 25/27 - 1
4-187518259-C-T c.12435G>A p.T4145= Synonymous 25/27 - 4
4-187518260-G-A c.12434C>T p.T4145M Missense 25/27 - 2
4-187518263-T-C c.12431A>G p.N4144S Missense 25/27 - 1
4-187518262-GT-G c.12431del p.N4144Tfs*62 Frameshift 25/27 - 1
4-187518264-T-A c.12430A>T p.N4144Y Missense 25/27 - 1
4-187518265-C-A c.12429G>T p.E4143D Missense 25/27 - 1
4-187518265-C-G c.12429G>C p.E4143D Missense 25/27 - 1
4-187518266-T-C c.12428A>G p.E4143G Missense 25/27 - 1
4-187518267-C-T c.12427G>A p.E4143K Missense 25/27 - 1
4-187518269-C-T c.12425G>A p.C4142Y Missense 25/27 - 1
4-187518270-A-G c.12424T>C p.C4142R Missense 25/27 - 1
4-187518273-G-A c.12421C>T p.L4141F Missense 25/27 - 1
4-187518276-C-A c.12418G>T p.A4140S Missense 25/27 - 1
4-187518275-GC-G c.12418del p.A4140Pfs*66 Frameshift 25/27 - 1
4-187518279-C-A c.12415G>T p.G4139W Missense 25/27 - 4
4-187518279-C-T c.12415G>A p.G4139R Missense 25/27 - 1
4-187518280-G-A c.12414C>T p.H4138= Synonymous 25/27 - 2
4-187518286-G-C c.12408C>G p.C4136W Missense 25/27 - 4
4-187518291-G-A c.12403C>T p.P4135S Missense 25/27 - 1
4-187518291-G-T c.12403C>A p.P4135T Missense 25/27 - 1
4-187518289-AG-A c.12404del p.P4135Lfs*71 Frameshift 25/27 - 1
4-187518299-G-C c.12395C>G p.S4132C Missense 25/27 - 1
4-187518300-A-C c.12394T>G p.S4132A Missense 25/27 - 1
4-187518306-C-T c.12388G>A p.E4130K Missense 25/27 - 1
4-187518301-GCACTCGTCGATAT-G c.12380_12392del p.D4127Afs*75 Frameshift 25/27 - 2
4-187518307-G-A c.12387C>T p.D4129= Synonymous 25/27 - 1
4-187518309-C-A c.12385G>T p.D4129Y Missense 25/27 - 3
4-187518309-C-T c.12385G>A p.D4129N Missense 25/27 - 2
4-187518319-C-CT c.12374dup p.S4126Efs*2 Frameshift 25/27 - 1
4-187518321-G-A c.12373C>T p.Q4125* Nonsense 25/27 - 2
4-187518323-C-T c.12371G>A p.C4124Y Missense 25/27 - 1
4-187518362-A-T c.12369-37T>A - IntronicSNV - 24/26 1
4-187518430-G-T c.12369-105C>A - IntronicSNV - 24/26 1
4-187518762-A-G c.12368+74T>C - IntronicSNV - 24/26 1
4-187518792-G-A c.12368+44C>T - IntronicSNV - 24/26 1
4-187518792-G-T c.12368+44C>A - IntronicSNV - 24/26 1
4-187518810-C-A c.12368+26G>T - IntronicSNV - 24/26 1
4-187518810-C-T c.12368+26G>A - IntronicSNV - 24/26 1
4-187518836-C-T c.12368G>A p.R4123K Missense 24/27 - 1
4-187518838-T-A c.12366A>T p.E4122D Missense 24/27 - 1
4-187518840-C-A c.12364G>T p.E4122* Nonsense 24/27 - 1
4-187518840-C-G c.12364G>C p.E4122Q Missense 24/27 - 1
4-187518840-C-T c.12364G>A p.E4122K Missense 24/27 - 1
4-187518841-T-C c.12363A>G p.G4121= Synonymous 24/27 - 1
4-187518842-C-A c.12362G>T p.G4121V Missense 24/27 - 2
4-187518843-C-A c.12361G>T p.G4121* Nonsense 24/27 - 3
4-187518843-C-G c.12361G>C p.G4121R Missense 24/27 - 1
4-187518843-C-T c.12361G>A p.G4121R Missense 24/27 - 1
4-187518844-C-A c.12360G>T p.R4120S Missense 24/27 - 2
4-187518844-C-G c.12360G>C p.R4120S Missense 24/27 - 1
4-187518844-C-T c.12360G>A p.R4120= Synonymous 24/27 - 2
4-187518846-T-G c.12358A>C p.R4120= Synonymous 24/27 - 2
4-187518846-T-A c.12358A>T p.R4120W Missense 24/27 - 2
4-187518846-T-C c.12358A>G p.R4120G Missense 24/27 - 1
4-187518853-C-A c.12351G>T p.S4117= Synonymous 24/27 - 2
4-187518853-C-G c.12351G>C p.S4117= Synonymous 24/27 - 2
4-187518853-C-T c.12351G>A p.S4117= Synonymous 24/27 - 3
4-187518854-G-A c.12350C>T p.S4117L Missense 24/27 - 2
4-187518854-G-T c.12350C>A p.S4117* Nonsense 24/27 - 1
4-187518858-C-A c.12346G>T p.D4116Y Missense 24/27 - 2
4-187518864-G-A c.12340C>T p.Q4114* Nonsense 24/27 - 3
4-187518870-C-T c.12334G>A p.V4112I Missense 24/27 - 6
4-187518871-G-A c.12333C>T p.A4111= Synonymous 24/27 - 8
4-187518871-G-C c.12333C>G p.A4111= Synonymous 24/27 - 1
4-187518871-G-T c.12333C>A p.A4111= Synonymous 24/27 - 1
4-187518872-G-A c.12332C>T p.A4111V Missense 24/27 - 6
4-187518873-C-T c.12331G>A p.A4111T Missense 24/27 - 7
4-187518874-G-A c.12330C>T p.G4110= Synonymous 24/27 - 2
4-187518874-G-C c.12330C>G p.G4110= Synonymous 24/27 - 2
4-187518874-GC-CT c.12329_12330delinsAG p.G4110E Missense 24/27 - 1
4-187518876-C-A c.12328G>T p.G4110C Missense 24/27 - 1
4-187518877-A-G c.12327T>C p.D4109= Synonymous 24/27 - 1
4-187518879-C-A c.12325G>T p.D4109Y Missense 24/27 - 2
4-187518882-A-G c.12322T>C p.L4108= Synonymous 24/27 - 1
4-187518888-C-A c.12316G>T p.D4106Y Missense 24/27 - 1
4-187518888-C-G c.12316G>C p.D4106H Missense 24/27 - 2
4-187518889-A-C c.12315T>G p.F4105L Missense 24/27 - 1
4-187518889-A-T c.12315T>A p.F4105L Missense 24/27 - 1
4-187518891-A-G c.12313T>C p.F4105L Missense 24/27 - 1
4-187518893-C-T c.12311G>A p.C4104Y Missense 24/27 - 1
4-187518896-G-A c.12308C>T p.T4103I Missense 24/27 - 1
4-187518897-T-G c.12307A>C p.T4103P Missense 24/27 - 1
4-187518900-C-A c.12304G>T p.G4102* Nonsense 24/27 - 3
4-187518900-C-G c.12304G>C p.G4102R Missense 24/27 - 1
4-187518900-C-T c.12304G>A p.G4102R Missense 24/27 - 3
4-187518901-G-A c.12303C>T p.G4101= Synonymous 24/27 - 2
4-187518901-G-C c.12303C>G p.G4101= Synonymous 24/27 - 2
4-187518901-G-T c.12303C>A p.G4101= Synonymous 24/27 - 2
4-187518909-T-G c.12295A>C p.K4099Q Missense 24/27 - 1
4-187518911-C-A c.12293G>T p.C4098F Missense 24/27 - 1
4-187518914-G-T c.12290C>A p.P4097H Missense 24/27 - 1
4-187518916-T-A c.12288A>T p.E4096D Missense 24/27 - 2
4-187518916-T-G c.12288A>C p.E4096D Missense 24/27 - 5
4-187518918-C-A c.12286G>T p.E4096* Nonsense 24/27 - 1
4-187518921-C-A c.12283G>T p.D4095Y Missense 24/27 - 1
4-187518921-C-G c.12283G>C p.D4095H Missense 24/27 - 2
4-187518921-C-T c.12283G>A p.D4095N Missense 24/27 - 3
4-187518923-T-A c.12281A>T p.K4094I Missense 24/27 - 1
4-187518924-T-C c.12280A>G p.K4094E Missense 24/27 - 1
4-187518925-G-T c.12279C>A p.C4093* Nonsense 24/27 - 1
4-187518926-C-A c.12278G>T p.C4093F Missense 24/27 - 2
4-187518932-G-A c.12272C>T p.P4091L Missense 24/27 - 1
4-187518935-C-G c.12269G>C p.S4090T Missense 24/27 - 2
4-187518935-C-T c.12269G>A p.S4090N Missense 24/27 - 1
4-187518936-T-C c.12268A>G p.S4090G Missense 24/27 - 1
4-187518938-A-C c.12266T>G p.L4089R Missense 24/27 - 1
4-187518942-G-A c.12262C>T p.Q4088* Nonsense 24/27 - 2
4-187518944-C-T c.12260G>A p.C4087Y Missense 24/27 - 1
4-187518976-C-T c.12258-30G>A - IntronicSNV - 23/26 8
4-187518980-T-C c.12258-34A>G - IntronicSNV - 23/26 10
4-187519059-T-C c.12257+67A>G - IntronicSNV - 23/26 1
4-187519116-A-G c.12257+10T>C - IntronicSNV - 23/26 1
4-187519116-A-T c.12257+10T>A - IntronicSNV - 23/26 1
4-187519123-T-A c.12257+3A>T - IntronicSNV - 23/26 1
4-187519126-C-T c.12257G>A p.R4086K Missense 23/27 - 4
4-187519126-CT-TG c.12256_12257delinsCA p.R4086Q Missense 23/27 - 1
4-187519127-T-G c.12256A>C p.R4086= Synonymous 23/27 - 1
4-187519128-C-A c.12255G>T p.Q4085H Missense 23/27 - 6
4-187519128-C-G c.12255G>C p.Q4085H Missense 23/27 - 11
4-187519130-G-A c.12253C>T p.Q4085* Nonsense 23/27 - 2
4-187519135-G-T c.12248C>A p.T4083N Missense 23/27 - 1
4-187519137-A-C c.12246T>G p.Y4082* Nonsense 23/27 - 1
4-187519137-A-T c.12246T>A p.Y4082* Nonsense 23/27 - 1
4-187519138-T-C c.12245A>G p.Y4082C Missense 23/27 - 4
4-187519141-A-C c.12242T>G p.L4081* Nonsense 23/27 - 1
4-187519141-A-T c.12242T>A p.L4081* Nonsense 23/27 - 1
4-187519145-C-A c.12238G>T p.G4080* Nonsense 23/27 - 1
4-187519147-C-T c.12236G>A p.R4079K Missense 23/27 - 1
4-187519149-A-T c.12234T>A p.C4078* Nonsense 23/27 - 1
4-187519151-A-G c.12232T>C p.C4078R Missense 23/27 - 1
4-187519152-C-G c.12231G>C p.Q4077H Missense 23/27 - 2
4-187519154-G-T c.12229C>A p.Q4077K Missense 23/27 - 1
4-187519156-C-A c.12227G>T p.C4076F Missense 23/27 - 1
4-187519168-C-A c.12215G>T p.G4072V Missense 23/27 - 5
4-187519168-C-T c.12215G>A p.G4072E Missense 23/27 - 4
4-187519169-C-A c.12214G>T p.G4072* Nonsense 23/27 - 1
4-187519170-G-A c.12213C>T p.N4071= Synonymous 23/27 - 1
4-187519175-C-T c.12208G>A p.D4070N Missense 23/27 - 3
4-187519180-A-G c.12203T>C p.V4068A Missense 23/27 - 2
4-187519181-C-A c.12202G>T p.V4068F Missense 23/27 - 1
4-187519186-G-A c.12197C>T p.T4066M Missense 23/27 - 1
4-187519187-T-A c.12196A>T p.T4066S Missense 23/27 - 2
4-187519189-C-T c.12194G>A p.G4065D Missense 23/27 - 1
4-187519192-C-A c.12191G>T p.G4064V Missense 23/27 - 1
4-187519188-G-GC c.12194dup p.T4066Hfs*14 Frameshift 23/27 - 1
4-187519195-T-A c.12188A>T p.Y4063F Missense 23/27 - 1
4-187519197-G-A c.12186C>T p.L4062= Synonymous 23/27 - 2
4-187519197-G-C c.12186C>G p.L4062= Synonymous 23/27 - 3
4-187519197-G-T c.12186C>A p.L4062= Synonymous 23/27 - 2
4-187519198-A-C c.12185T>G p.L4062R Missense 23/27 - 3
4-187519199-G-T c.12184C>A p.L4062I Missense 23/27 - 2
4-187519200-G-A c.12183C>T p.C4061= Synonymous 23/27 - 2
4-187519201-C-T c.12182G>A p.C4061Y Missense 23/27 - 1
4-187519204-G-T c.12179C>A p.P4060Q Missense 23/27 - 1
4-187519203-T-TG c.12179dup p.C4061Mfs*19 Frameshift 23/27 - 1
4-187519206-C-A c.12177G>T p.K4059N Missense 23/27 - 26
4-187519206-C-G c.12177G>C p.K4059N Missense 23/27 - 43
4-187519213-G-A c.12170C>T p.S4057F Missense 23/27 - 4
4-187519213-GA-AG c.12169_12170delinsCT p.S4057L Missense 23/27 - 3
4-187519214-A-G c.12169T>C p.S4057P Missense 23/27 - 2
4-187519219-G-A c.12164C>T p.P4055L Missense 23/27 - 3
4-187519219-G-T c.12164C>A p.P4055Q Missense 23/27 - 1
4-187519220-G-A c.12163C>T p.P4055S Missense 23/27 - 3
4-187519226-C-T c.12157G>A p.V4053I Missense 23/27 - 6
4-187519227-G-A c.12156C>T p.S4052= Synonymous 23/27 - 1
4-187519233-C-A c.12150G>T p.E4050D Missense 23/27 - 1
4-187519233-C-G c.12150G>C p.E4050D Missense 23/27 - 1
4-187519236-A-G c.12147T>C p.C4049= Synonymous 23/27 - 1
4-187519243-G-A c.12140C>T p.T4047I Missense 23/27 - 1
4-187519244-T-C c.12139A>G p.T4047A Missense 23/27 - 2
4-187519244-T-TC c.12138dup p.T4047Dfs*4 Frameshift 23/27 - 1
4-187519247-C-T c.12136G>A p.G4046R Missense 23/27 - 1
4-187519249-A-T c.12134T>A p.I4045K Missense 23/27 - 1
4-187519252-T-C c.12131A>G p.Y4044C Missense 23/27 - 2
4-187519257-G-A c.12126C>T p.A4042= Synonymous 23/27 - 1
4-187519257-G-C c.12126C>G p.A4042= Synonymous 23/27 - 1
4-187519257-G-T c.12126C>A p.A4042= Synonymous 23/27 - 2
4-187519258-G-A c.12125C>T p.A4042V Missense 23/27 - 1
4-187519261-C-T c.12122G>A p.S4041N Missense 23/27 - 2
4-187519265-A-C c.12118T>G p.C4040G Missense 23/27 - 1
4-187519270-C-T c.12113G>A p.C4038Y Missense 23/27 - 2
4-187519271-A-G c.12112T>C p.C4038R Missense 23/27 - 1
4-187519272-G-A c.12111C>T p.Y4037= Synonymous 23/27 - 1
4-187519277-A-C c.12106T>G p.Y4036D Missense 23/27 - 3
4-187519309-C-A c.12104-30G>T - IntronicSNV - 22/26 1
4-187519309-C-T c.12104-30G>A - IntronicSNV - 22/26 1
4-187520903-G-A c.12103+149C>T - IntronicSNV - 22/26 1
4-187521037-C-A c.12103+15G>T - IntronicSNV - 22/26 8
4-187521037-C-T c.12103+15G>A - IntronicSNV - 22/26 5
4-187521042-C-T c.12103+10G>A - IntronicSNV - 22/26 1
4-187521052-C-T c.12103G>A p.G4035S Missense 22/27 - 3
4-187521054-C-A c.12101G>T p.G4034V Missense 22/27 - 2
4-187521055-C-A c.12100G>T p.G4034* Nonsense 22/27 - 1
4-187521063-G-C c.12092C>G p.S4031* Nonsense 22/27 - 2
4-187521063-G-T c.12092C>A p.S4031* Nonsense 22/27 - 2
4-187521064-A-G c.12091T>C p.S4031P Missense 22/27 - 2
4-187521065-C-A c.12090G>T p.P4030= Synonymous 22/27 - 1
4-187521065-C-G c.12090G>C p.P4030= Synonymous 22/27 - 1
4-187521065-C-T c.12090G>A p.P4030= Synonymous 22/27 - 2
4-187521066-G-A c.12089C>T p.P4030L Missense 22/27 - 5
4-187521067-G-A c.12088C>T p.P4030S Missense 22/27 - 3
4-187521072-C-A c.12083G>T p.C4028F Missense 22/27 - 1
4-187521072-C-T c.12083G>A p.C4028Y Missense 22/27 - 1
4-187521076-C-G c.12079G>C p.V4027L Missense 22/27 - 1
4-187521076-C-T c.12079G>A p.V4027I Missense 22/27 - 1
4-187521077-G-A c.12078C>T p.G4026= Synonymous 22/27 - 3
4-187521077-G-C c.12078C>G p.G4026= Synonymous 22/27 - 1
4-187521077-G-T c.12078C>A p.G4026= Synonymous 22/27 - 1
4-187521088-G-A c.12067C>T p.Q4023* Nonsense 22/27 - 5
4-187521089-G-A c.12066C>T p.C4022= Synonymous 22/27 - 2
4-187521093-G-T c.12062C>A p.P4021H Missense 22/27 - 1
4-187521097-T-C c.12058A>G p.N4020D Missense 22/27 - 1
4-187521103-C-A c.12052G>T p.A4018S Missense 22/27 - 1
4-187521103-C-T c.12052G>A p.A4018T Missense 22/27 - 5
4-187521104-G-A c.12051C>T p.C4017= Synonymous 22/27 - 1
4-187521108-T-C c.12047A>G p.D4016G Missense 22/27 - 1
4-187521109-C-A c.12046G>T p.D4016Y Missense 22/27 - 1
4-187521112-C-T c.12043G>A p.E4015K Missense 22/27 - 1
4-187521113-C-G c.12042G>C p.T4014= Synonymous 22/27 - 2
4-187521113-C-T c.12042G>A p.T4014= Synonymous 22/27 - 3
4-187521114-G-A c.12041C>T p.T4014M Missense 22/27 - 4
4-187521115-T-A c.12040A>T p.T4014S Missense 22/27 - 1
4-187521115-T-C c.12040A>G p.T4014A Missense 22/27 - 1
4-187521117-G-A c.12038C>T p.A4013V Missense 22/27 - 1
4-187521118-C-T c.12037G>A p.A4013T Missense 22/27 - 8
4-187521120-G-A c.12035C>T p.T4012M Missense 22/27 - 5
4-187521121-T-C c.12034A>G p.T4012A Missense 22/27 - 3
4-187521122-CAG-AAA c.12031_12033delinsTTT p.L4011F Missense 22/27 - 1
4-187521122-C-G c.12033G>C p.L4011= Synonymous 22/27 - 1
4-187521124-G-A c.12031C>T p.L4011= Synonymous 22/27 - 4
4-187521125-G-A c.12030C>T p.F4010= Synonymous 22/27 - 4
4-187521129-C-A c.12026G>T p.C4009F Missense 22/27 - 2
4-187521134-T-C c.12021A>G p.P4007= Synonymous 22/27 - 1
4-187521135-G-T c.12020C>A p.P4007Q Missense 22/27 - 2
4-187521136-G-A c.12019C>T p.P4007S Missense 22/27 - 2
4-187521142-C-A c.12013G>T p.V4005L Missense 22/27 - 1
4-187521157-C-A c.11998G>T p.E4000* Nonsense 22/27 - 1
4-187521157-C-T c.11998G>A p.E4000K Missense 22/27 - 4
4-187521158-G-A c.11997C>T p.I3999= Synonymous 22/27 - 2
4-187521158-G-T c.11997C>A p.I3999= Synonymous 22/27 - 1
4-187521159-A-G c.11996T>C p.I3999T Missense 22/27 - 1
4-187521167-A-G c.11988T>C p.Y3996= Synonymous 22/27 - 2
4-187521168-T-C c.11987A>G p.Y3996C Missense 22/27 - 1
4-187521170-G-C c.11985C>G p.S3995R Missense 22/27 - 1
4-187521170-G-T c.11985C>A p.S3995R Missense 22/27 - 1
4-187521172-T-G c.11983A>C p.S3995R Missense 22/27 - 1
4-187521174-C-G c.11981G>C p.R3994T Missense 22/27 - 1
4-187521174-C-T c.11981G>A p.R3994K Missense 22/27 - 2
4-187521175-T-G c.11980A>C p.R3994= Synonymous 22/27 - 1
4-187521176-G-T c.11979C>A p.P3993= Synonymous 22/27 - 1
4-187521177-G-A c.11978C>T p.P3993L Missense 22/27 - 1
4-187521179-T-A c.11976A>T p.K3992N Missense 22/27 - 1
4-187521179-T-C c.11976A>G p.K3992= Synonymous 22/27 - 1
4-187521179-T-G c.11976A>C p.K3992N Missense 22/27 - 1
4-187521193-G-A c.11962C>T p.P3988S Missense 22/27 - 1
4-187521197-C-A c.11958G>T p.E3986D Missense 22/27 - 1
4-187521198-T-G c.11957A>C p.E3986A Missense 22/27 - 1
4-187521202-TG-T c.11953del p.Q3985Rfs*5 Frameshift 22/27 - 1
4-187521202-GC-G c.11952del p.Q3985Rfs*5 Frameshift 22/27 - 1
4-187521209-C-A c.11946G>T p.L3982F Missense 22/27 - 3
4-187521209-C-G c.11946G>C p.L3982F Missense 22/27 - 5
4-187521211-A-C c.11944T>G p.L3982V Missense 22/27 - 1
4-187521212-A-T c.11943T>A p.Y3981* Nonsense 22/27 - 4
4-187521213-AT-A c.11942del p.Y3981Ffs*2 Frameshift 22/27 - 1
4-187521215-A-C c.11940T>G p.I3980M Missense 22/27 - 1
4-187521219-G-C c.11936C>G p.S3979C Missense 22/27 - 1
4-187521223-C-G c.11932G>C p.D3978H Missense 22/27 - 1
4-187521223-C-T c.11932G>A p.D3978N Missense 22/27 - 1
4-187521226-T-C c.11929A>G p.M3977V Missense 22/27 - 1
4-187521227-A-T c.11928T>A p.C3976* Nonsense 22/27 - 1
4-187521228-C-A c.11927G>T p.C3976F Missense 22/27 - 1
4-187521228-C-T c.11927G>A p.C3976Y Missense 22/27 - 1
4-187521233-C-A c.11922G>T p.R3974S Missense 22/27 - 2
4-187521233-C-G c.11922G>C p.R3974S Missense 22/27 - 1
4-187521240-C-G c.11915G>C p.G3972A Missense 22/27 - 1
4-187521244-T-C c.11911A>G p.N3971D Missense 22/27 - 1
4-187521245-AC-CT c.11909_11910delinsAG p.G3970E Missense 22/27 - 3
4-187521246-C-T c.11909G>A p.G3970D Missense 22/27 - 2
4-187521247-C-A c.11908G>T p.G3970C Missense 22/27 - 1
4-187521249-A-G c.11906T>C p.V3969A Missense 22/27 - 1
4-187521250-C-T c.11905G>A p.V3969I Missense 22/27 - 2
4-187521253-G-A c.11902C>T p.Q3968* Nonsense 22/27 - 1
4-187521253-G-C c.11902C>G p.Q3968E Missense 22/27 - 1
4-187521259-T-A c.11896A>T p.S3966C Missense 22/27 - 1
4-187521261-C-T c.11894G>A p.R3965K Missense 22/27 - 6
4-187521265-C-A c.11890G>T p.G3964* Nonsense 22/27 - 1
4-187521269-C-T c.11886G>A p.R3962= Synonymous 22/27 - 1
4-187521271-T-G c.11884A>C p.R3962= Synonymous 22/27 - 1
4-187521271-TTG-T c.11882_11883del p.T3961Kfs*10 Frameshift 22/27 - 2
4-187521273-G-T c.11882C>A p.T3961K Missense 22/27 - 1
4-187521274-T-A c.11881A>T p.T3961S Missense 22/27 - 1
4-187521276-C-T c.11879G>A p.G3960E Missense 22/27 - 3
4-187521277-C-A c.11878G>T p.G3960* Nonsense 22/27 - 5
4-187521277-C-T c.11878G>A p.G3960R Missense 22/27 - 1
4-187521280-G-A c.11875C>T p.Q3959* Nonsense 22/27 - 3
4-187521283-G-A c.11872C>T p.Q3958* Nonsense 22/27 - 4
4-187521285-C-T c.11870G>A p.R3957H Missense 22/27 - 3
4-187521286-G-A c.11869C>T p.R3957C Missense 22/27 - 2
4-187521287-G-A c.11868C>T p.I3956= Synonymous 22/27 - 1
4-187521287-G-C c.11868C>G p.I3956M Missense 22/27 - 1
4-187521287-G-T c.11868C>A p.I3956= Synonymous 22/27 - 1
4-187521295-C-T c.11860G>A p.G3954S Missense 22/27 - 5
4-187521297-C-A c.11858G>T p.G3953V Missense 22/27 - 2
4-187521297-C-CA c.11857_11858insT p.G3953Vfs*19 Frameshift 22/27 - 1
4-187521300-A-C c.11855T>G p.F3952C Missense 22/27 - 1
4-187521298-CA-C c.11856del p.F3952Lfs*31 Frameshift 22/27 - 2
4-187521298-C-CA c.11856dup p.G3953Wfs*19 Frameshift 22/27 - 4
4-187521306-A-T c.11849T>A p.V3950E Missense 22/27 - 1
4-187521307-C-T c.11848G>A p.V3950M Missense 22/27 - 1
4-187521309-T-A c.11846A>T p.Y3949F Missense 22/27 - 2
4-187521309-T-C c.11846A>G p.Y3949C Missense 22/27 - 1
4-187521312-T-G c.11843A>C p.N3948T Missense 22/27 - 1
4-187521317-C-T c.11838G>A p.L3946= Synonymous 22/27 - 1
4-187521321-T-G c.11834A>C p.N3945T Missense 22/27 - 1
4-187521322-T-C c.11833A>G p.N3945D Missense 22/27 - 1
4-187521326-G-A c.11829C>T p.T3943= Synonymous 22/27 - 4
4-187521326-GGTTTTCA-G c.11822_11828del p.L3941Pfs*2 Frameshift 22/27 - 1
4-187521332-C-G c.11823G>C p.L3941= Synonymous 22/27 - 1
4-187521337-T-C c.11818A>G p.T3940A Missense 22/27 - 11
4-187521341-T-C c.11814A>G p.P3938= Synonymous 22/27 - 1
4-187521343-G-A c.11812C>T p.P3938S Missense 22/27 - 1
4-187521345-G-A c.11810C>T p.A3937V Missense 22/27 - 1
4-187521346-C-G c.11809G>C p.A3937P Missense 22/27 - 1
4-187521346-C-T c.11809G>A p.A3937T Missense 22/27 - 1
4-187521348-G-T c.11807C>A p.T3936K Missense 22/27 - 1
4-187521351-C-A c.11804G>T p.G3935V Missense 22/27 - 2
4-187521354-G-A c.11801C>T p.S3934L Missense 22/27 - 8
4-187521358-CAGTATGAACTTGGTCTAGAACCA-C c.11774_11796del p.L3925Cfs*16 Frameshift 22/27 - 1
4-187521364-G-A c.11791C>T p.H3931Y Missense 22/27 - 6
4-187521368-T-A c.11787A>T p.Q3929H Missense 22/27 - 3
4-187521368-T-G c.11787A>C p.Q3929H Missense 22/27 - 4
4-187521369-T-A c.11786A>T p.Q3929L Missense 22/27 - 2
4-187521370-G-A c.11785C>T p.Q3929* Nonsense 22/27 - 2
4-187521370-G-T c.11785C>A p.Q3929K Missense 22/27 - 2
4-187521373-C-A c.11782G>T p.D3928Y Missense 22/27 - 2
4-187521373-C-T c.11782G>A p.D3928N Missense 22/27 - 1
4-187521377-A-C c.11778T>G p.V3926= Synonymous 22/27 - 1
4-187521378-A-C c.11777T>G p.V3926G Missense 22/27 - 1
4-187521384-C-A c.11771G>T p.R3924L Missense 22/27 - 2
4-187521384-C-T c.11771G>A p.R3924H Missense 22/27 - 6
4-187521385-G-A c.11770C>T p.R3924C Missense 22/27 - 5
4-187521385-G-C c.11770C>G p.R3924G Missense 22/27 - 1
4-187521388-C-A c.11767G>T p.A3923S Missense 22/27 - 1
4-187521387-GCATAGTTTC-G c.11759_11767del p.G3920_Y3922del InFrameDeletion 22/27 - 1
4-187521396-C-T c.11759G>A p.G3920E Missense 22/27 - 3
4-187521397-C-T c.11758G>A p.G3920R Missense 22/27 - 1
4-187521398-A-G c.11757T>C p.N3919= Synonymous 22/27 - 1
4-187521400-T-A c.11755A>T p.N3919Y Missense 22/27 - 1
4-187521404-T-A c.11751A>T p.E3917D Missense 22/27 - 1
4-187521406-C-A c.11749G>T p.E3917* Nonsense 22/27 - 1
4-187521406-C-T c.11749G>A p.E3917K Missense 22/27 - 1
4-187521410-G-A c.11745C>T p.A3915= Synonymous 22/27 - 2
4-187521413-C-A c.11742G>T p.V3914= Synonymous 22/27 - 1
4-187521415-C-CT c.11739dup p.V3914Sfs*35 Frameshift 22/27 - 1
4-187521417-G-A c.11738C>T p.A3913V Missense 22/27 - 4
4-187521418-C-T c.11737G>A p.A3913T Missense 22/27 - 6
4-187521419-G-C c.11736C>G p.H3912Q Missense 22/27 - 1
4-187521419-G-T c.11736C>A p.H3912Q Missense 22/27 - 1
4-187521421-G-T c.11734C>A p.H3912N Missense 22/27 - 1
4-187521423-C-A c.11732G>T p.W3911L Missense 22/27 - 1
4-187521428-C-T c.11727G>A p.G3909= Synonymous 22/27 - 1
4-187521435-T-C c.11720A>G p.N3907S Missense 22/27 - 9
4-187521442-G-A c.11713C>T p.Q3905* Nonsense 22/27 - 1
4-187521443-A-C c.11712T>G p.I3904M Missense 22/27 - 1
4-187521444-A-G c.11711T>C p.I3904T Missense 22/27 - 1
4-187521447-C-G c.11708G>C p.S3903T Missense 22/27 - 4
4-187521447-C-T c.11708G>A p.S3903N Missense 22/27 - 1
4-187521449-C-T c.11706G>A p.Q3902= Synonymous 22/27 - 2
4-187521451-G-A c.11704C>T p.Q3902* Nonsense 22/27 - 5
4-187521451-G-C c.11704C>G p.Q3902E Missense 22/27 - 1
4-187521456-G-A c.11699C>T p.S3900F Missense 22/27 - 1
4-187521460-C-A c.11695G>T p.V3899F Missense 22/27 - 1
4-187521466-C-A c.11689G>T p.G3897* Nonsense 22/27 - 1
4-187521472-C-A c.11683G>T p.G3895C Missense 22/27 - 1
4-187521476-TC-T c.11678del p.G3893Efs*26 Frameshift 22/27 - 2
4-187521479-A-T c.11676T>A p.C3892* Nonsense 22/27 - 1
4-187521489-T-C c.11666A>G p.K3889R Missense 22/27 - 1
4-187521491-G-C c.11664C>G p.Y3888* Nonsense 22/27 - 2
4-187521496-G-A c.11659C>T p.Q3887* Nonsense 22/27 - 3
4-187521496-G-C c.11659C>G p.Q3887E Missense 22/27 - 1
4-187521498-A-G c.11657T>C p.L3886P Missense 22/27 - 1
4-187521499-G-T c.11656C>A p.L3886M Missense 22/27 - 1
4-187521500-C-A c.11655G>T p.R3885S Missense 22/27 - 1
4-187521502-T-C c.11653A>G p.R3885G Missense 22/27 - 2
4-187521505-C-A c.11650G>T p.G3884* Nonsense 22/27 - 2
4-187521508-G-A c.11647C>T p.H3883Y Missense 22/27 - 1
4-187522357-G-T c.11640+66C>A - IntronicSNV - 21/26 1
4-187522419-A-G c.11640+4T>C - IntronicSNV - 21/26 3
4-187522425-C-A c.11638G>T p.E3880* Nonsense 21/27 - 2
4-187522436-T-C c.11627A>G p.Y3876C Missense 21/27 - 7
4-187522447-TC-AT c.11615_11616delinsAT p.R3872H Missense 21/27 - 1
4-187522448-C-T c.11615G>A p.R3872Q Missense 21/27 - 3
4-187522449-G-A c.11614C>T p.R3872* Nonsense 21/27 - 8
4-187522452-C-T c.11611G>A p.A3871T Missense 21/27 - 6
4-187522454-T-C c.11609A>G p.Y3870C Missense 21/27 - 1
4-187522465-C-A c.11598G>T p.A3866= Synonymous 21/27 - 2
4-187522465-C-G c.11598G>C p.A3866= Synonymous 21/27 - 1
4-187522465-C-T c.11598G>A p.A3866= Synonymous 21/27 - 1
4-187522471-C-A c.11592G>T p.T3864= Synonymous 21/27 - 4
4-187522471-C-G c.11592G>C p.T3864= Synonymous 21/27 - 4
4-187522471-C-T c.11592G>A p.T3864= Synonymous 21/27 - 4
4-187522472-G-A c.11591C>T p.T3864M Missense 21/27 - 4
4-187522472-GTGGAATATGTTCTGAGCC-G c.11573_11590del p.R3858_S3863del InFrameDeletion 21/27 - 1
4-187522475-G-C c.11588C>G p.S3863C Missense 21/27 - 1
4-187522476-A-G c.11587T>C p.S3863P Missense 21/27 - 1
4-187522477-A-C c.11586T>G p.Y3862* Nonsense 21/27 - 1
4-187522477-A-T c.11586T>A p.Y3862* Nonsense 21/27 - 1
4-187522482-T-C c.11581A>G p.T3861A Missense 21/27 - 1
4-187522484-C-T c.11579G>A p.R3860K Missense 21/27 - 2
4-187522485-T-A c.11578A>T p.R3860* Nonsense 21/27 - 1
4-187522485-T-C c.11578A>G p.R3860G Missense 21/27 - 1
4-187522486-G-A c.11577C>T p.L3859= Synonymous 21/27 - 3
4-187522486-G-C c.11577C>G p.L3859= Synonymous 21/27 - 2
4-187522486-G-T c.11577C>A p.L3859= Synonymous 21/27 - 2
4-187522487-A-C c.11576T>G p.L3859R Missense 21/27 - 1
4-187522504-C-A c.11559G>T p.M3853I Missense 21/27 - 1
4-187522504-C-G c.11559G>C p.M3853I Missense 21/27 - 1
4-187522504-C-T c.11559G>A p.M3853I Missense 21/27 - 1
4-187522507-C-A c.11556G>T p.E3852D Missense 21/27 - 1
4-187522507-C-G c.11556G>C p.E3852D Missense 21/27 - 2
4-187522507-C-T c.11556G>A p.E3852= Synonymous 21/27 - 2
4-187522509-C-A c.11554G>T p.E3852* Nonsense 21/27 - 6
4-187522511-A-G c.11552T>C p.L3851S Missense 21/27 - 4
4-187522518-T-C c.11545A>G p.N3849D Missense 21/27 - 1
4-187522521-C-T c.11542G>A p.E3848K Missense 21/27 - 1
4-187522526-T-G c.11537A>C p.E3846A Missense 21/27 - 1
4-187522528-C-A c.11535G>T p.T3845= Synonymous 21/27 - 1
4-187522528-C-G c.11535G>C p.T3845= Synonymous 21/27 - 1
4-187522528-C-T c.11535G>A p.T3845= Synonymous 21/27 - 7
4-187522529-G-A c.11534C>T p.T3845M Missense 21/27 - 10
4-187522530-GT-G c.11533del p.T3845Rfs*7 Frameshift 21/27 - 1
4-187522532-A-T c.11531T>A p.L3844Q Missense 21/27 - 1
4-187522535-C-T c.11528G>A p.R3843H Missense 21/27 - 4
4-187522536-G-A c.11527C>T p.R3843C Missense 21/27 - 1
4-187522537-G-C c.11526C>G p.Y3842* Nonsense 21/27 - 3
4-187522537-G-T c.11526C>A p.Y3842* Nonsense 21/27 - 1
4-187522538-T-C c.11525A>G p.Y3842C Missense 21/27 - 1
4-187522546-G-A c.11517C>T p.Y3839= Synonymous 21/27 - 1
4-187522548-A-G c.11515T>C p.Y3839H Missense 21/27 - 1
4-187522552-G-C c.11511C>G p.N3837K Missense 21/27 - 2
4-187522552-G-T c.11511C>A p.N3837K Missense 21/27 - 5
4-187522560-T-C c.11503A>G p.T3835A Missense 21/27 - 1
4-187522566-T-C c.11497A>G p.T3833A Missense 21/27 - 2
4-187522569-T-C c.11494A>G p.M3832V Missense 21/27 - 2
4-187522571-G-A c.11492C>T p.S3831F Missense 21/27 - 1
4-187522574-G-A c.11489C>T p.S3830L Missense 21/27 - 1
4-187522574-G-T c.11489C>A p.S3830* Nonsense 21/27 - 1
4-187522580-C-T c.11483G>A p.G3828E Missense 21/27 - 1
4-187522722-C-T c.11483-142G>A - IntronicSNV - 20/26 1
4-187522789-T-A c.11483-209A>T - IntronicSNV - 20/26 2
4-187522789-T-C c.11483-209A>G - IntronicSNV - 20/26 2
4-187523961-T-C c.11482+96A>G - IntronicSNV - 20/26 1
4-187523997-G-A c.11482+60C>T - IntronicSNV - 20/26 1
4-187523997-G-T c.11482+60C>A - IntronicSNV - 20/26 1
4-187524014-C-T c.11482+43G>A - IntronicSNV - 20/26 1
4-187524055-A-C c.11482+2T>G - IntronicSNV - 20/26 1
4-187524056-C-G c.11482+1G>C - IntronicSNV - 20/26 1
4-187524057-C-A c.11482G>T p.G3828W Missense 20/27 - 1
4-187524057-C-CA c.11481_11482insT p.G3828Wfs*21 SpliceDonorInsertion 20/27 - 1
4-187524057-C-CG c.11481_11482insC p.G3828Rfs*21 SpliceDonorInsertion 20/27 - 1
4-187524057-C-CT c.11481dup p.G3828Rfs*21 SpliceDonorInsertion 20/27 - 1
4-187524060-G-A c.11479C>T p.P3827S Missense 20/27 - 3
4-187524062-C-A c.11477G>T p.C3826F Missense 20/27 - 3
4-187524066-G-A c.11473C>T p.Q3825* Nonsense 20/27 - 11
4-187524068-C-T c.11471G>A p.G3824D Missense 20/27 - 1
4-187524074-C-A c.11465G>T p.R3822M Missense 20/27 - 2
4-187524074-C-T c.11465G>A p.R3822K Missense 20/27 - 1
4-187524074-CT-TG c.11464_11465delinsCA p.R3822Q Missense 20/27 - 1
4-187524077-C-T c.11462G>A p.G3821D Missense 20/27 - 1
4-187524079-G-A c.11460C>T p.S3820= Synonymous 20/27 - 1
4-187524081-T-C c.11458A>G p.S3820G Missense 20/27 - 2
4-187524081-T-G c.11458A>C p.S3820R Missense 20/27 - 1
4-187524083-G-A c.11456C>T p.P3819L Missense 20/27 - 2
4-187524084-G-A c.11455C>T p.P3819S Missense 20/27 - 1
4-187524086-C-G c.11453G>C p.C3818S Missense 20/27 - 3
4-187524086-C-T c.11453G>A p.C3818Y Missense 20/27 - 3
4-187524087-A-T c.11452T>A p.C3818S Missense 20/27 - 1
4-187524088-G-A c.11451C>T p.V3817= Synonymous 20/27 - 1
4-187524088-G-C c.11451C>G p.V3817= Synonymous 20/27 - 1
4-187524094-G-T c.11445C>A p.T3815= Synonymous 20/27 - 1
4-187524095-G-C c.11444C>G p.T3815S Missense 20/27 - 1
4-187524099-G-A c.11440C>T p.H3814Y Missense 20/27 - 3
4-187524103-C-T c.11436G>A p.E3812= Synonymous 20/27 - 1
4-187524104-T-C c.11435A>G p.E3812G Missense 20/27 - 1
4-187524108-C-G c.11431G>C p.E3811Q Missense 20/27 - 1
4-187524108-C-T c.11431G>A p.E3811K Missense 20/27 - 9
4-187524110-C-A c.11429G>T p.W3810L Missense 20/27 - 1
4-187524117-C-T c.11422G>A p.D3808N Missense 20/27 - 1
4-187524119-G-A c.11420C>T p.S3807F Missense 20/27 - 1
4-187524123-C-T c.11416G>A p.V3806M Missense 20/27 - 1
4-187524125-C-T c.11414G>A p.C3805Y Missense 20/27 - 2
4-187524126-A-T c.11413T>A p.C3805S Missense 20/27 - 1
4-187524129-C-A c.11410G>T p.E3804* Nonsense 20/27 - 1
4-187524129-C-T c.11410G>A p.E3804K Missense 20/27 - 1
4-187524130-G-A c.11409C>T p.S3803= Synonymous 20/27 - 4
4-187524130-G-C c.11409C>G p.S3803= Synonymous 20/27 - 2
4-187524130-G-T c.11409C>A p.S3803= Synonymous 20/27 - 2
4-187524131-G-A c.11408C>T p.S3803F Missense 20/27 - 1
4-187524134-C-T c.11405G>A p.G3802E Missense 20/27 - 5
4-187524138-C-G c.11401G>C p.E3801Q Missense 20/27 - 1
4-187524138-C-T c.11401G>A p.E3801K Missense 20/27 - 2
4-187524140-G-T c.11399C>A p.P3800H Missense 20/27 - 2
4-187524141-G-T c.11398C>A p.P3800T Missense 20/27 - 1
4-187524142-G-T c.11397C>A p.C3799* Nonsense 20/27 - 3
4-187524143-C-T c.11396G>A p.C3799Y Missense 20/27 - 1
4-187524144-CA-C c.11395del p.C3799Afs*34 Frameshift 20/27 - 1
4-187524145-C-A c.11394G>T p.P3798= Synonymous 20/27 - 1
4-187524145-C-G c.11394G>C p.P3798= Synonymous 20/27 - 2
4-187524145-C-T c.11394G>A p.P3798= Synonymous 20/27 - 3
4-187524146-G-T c.11393C>A p.P3798Q Missense 20/27 - 1
4-187524147-G-A c.11392C>T p.P3798S Missense 20/27 - 1
4-187524150-C-A c.11389G>T p.D3797Y Missense 20/27 - 1
4-187524150-C-G c.11389G>C p.D3797H Missense 20/27 - 1
4-187524154-T-C c.11385A>G p.E3795= Synonymous 20/27 - 1
4-187524156-C-T c.11383G>A p.E3795K Missense 20/27 - 1
4-187524157-A-G c.11382T>C p.C3794= Synonymous 20/27 - 1
4-187524167-T-A c.11372A>T p.H3791L Missense 20/27 - 1
4-187524168-G-A c.11371C>T p.H3791Y Missense 20/27 - 1
4-187524169-G-A c.11370C>T p.V3790= Synonymous 20/27 - 1
4-187524170-A-G c.11369T>C p.V3790A Missense 20/27 - 2
4-187524171-C-G c.11368G>C p.V3790L Missense 20/27 - 1
4-187524171-C-T c.11368G>A p.V3790I Missense 20/27 - 1
4-187524176-G-A c.11363C>T p.P3788L Missense 20/27 - 1
4-187524178-G-C c.11361C>G p.C3787W Missense 20/27 - 3
4-187524179-C-T c.11360G>A p.C3787Y Missense 20/27 - 1
4-187524303-C-T c.11350+27G>A - IntronicSNV - 19/26 1
4-187524328-A-G c.11350+2T>C - IntronicSNV - 19/26 1
4-187524330-C-A c.11350G>T p.E3784* Nonsense 19/27 - 2
4-187524333-T-G c.11347A>C p.K3783Q Missense 19/27 - 2
4-187524337-G-A c.11343C>T p.L3781= Synonymous 19/27 - 1
4-187524339-G-A c.11341C>T p.L3781F Missense 19/27 - 1
4-187524341-C-A c.11339G>T p.C3780F Missense 19/27 - 1
4-187524341-CA-GT c.11338_11339delinsAC p.C3780T Missense 19/27 - 1
4-187524341-C-G c.11339G>C p.C3780S Missense 19/27 - 3
4-187524341-C-T c.11339G>A p.C3780Y Missense 19/27 - 2
4-187524342-A-G c.11338T>C p.C3780R Missense 19/27 - 2
4-187524342-A-T c.11338T>A p.C3780S Missense 19/27 - 6
4-187524344-A-C c.11336T>G p.V3779G Missense 19/27 - 1
4-187524345-C-G c.11335G>C p.V3779L Missense 19/27 - 1
4-187524347-G-A c.11333C>T p.A3778V Missense 19/27 - 1
4-187524347-G-T c.11333C>A p.A3778E Missense 19/27 - 1
4-187524351-C-T c.11329G>A p.A3777T Missense 19/27 - 1
4-187524354-T-A c.11326A>T p.R3776W Missense 19/27 - 3
4-187524362-C-T c.11318G>A p.R3773H Missense 19/27 - 5
4-187524363-G-A c.11317C>T p.R3773C Missense 19/27 - 1
4-187524364-G-A c.11316C>T p.P3772= Synonymous 19/27 - 2
4-187524366-G-A c.11314C>T p.P3772S Missense 19/27 - 2
4-187524370-C-A c.11310G>T p.V3770= Synonymous 19/27 - 1
4-187524380-A-G c.11300T>C p.L3767P Missense 19/27 - 1
4-187524386-G-A c.11294C>T p.A3765V Missense 19/27 - 2
4-187524392-C-T c.11288G>A p.S3763N Missense 19/27 - 1
4-187524396-G-A c.11284C>T p.H3762Y Missense 19/27 - 1
4-187524396-G-T c.11284C>A p.H3762N Missense 19/27 - 1
4-187524401-G-C c.11279C>G p.S3760* Nonsense 19/27 - 1
4-187524401-G-T c.11279C>A p.S3760* Nonsense 19/27 - 1
4-187524405-T-A c.11275A>T p.M3759L Missense 19/27 - 2
4-187524406-C-T c.11274G>A p.V3758= Synonymous 19/27 - 1
4-187524408-C-T c.11272G>A p.V3758M Missense 19/27 - 3
4-187524410-C-T c.11270G>A p.S3757N Missense 19/27 - 1
4-187524414-C-A c.11266G>T p.E3756* Nonsense 19/27 - 1
4-187524426-C-A c.11254G>T p.V3752L Missense 19/27 - 1
4-187524426-C-G c.11254G>C p.V3752L Missense 19/27 - 1
4-187524427-C-A c.11253G>T p.K3751N Missense 19/27 - 1
4-187524427-C-T c.11253G>A p.K3751= Synonymous 19/27 - 1
4-187524428-T-A c.11252A>T p.K3751M Missense 19/27 - 1
4-187524428-T-C c.11252A>G p.K3751R Missense 19/27 - 1
4-187524435-C-T c.11245G>A p.D3749N Missense 19/27 - 4
4-187524436-G-A c.11244C>T p.C3748= Synonymous 19/27 - 3
4-187524439-G-C c.11241C>G p.F3747L Missense 19/27 - 2
4-187524439-G-T c.11241C>A p.F3747L Missense 19/27 - 2
4-187524441-A-G c.11239T>C p.F3747L Missense 19/27 - 2
4-187524442-C-A c.11238G>T p.K3746N Missense 19/27 - 1
4-187524442-C-G c.11238G>C p.K3746N Missense 19/27 - 1
4-187524443-T-G c.11237A>C p.K3746T Missense 19/27 - 2
4-187524445-C-T c.11235G>A p.W3745* Nonsense 19/27 - 1
4-187524446-C-A c.11234G>T p.W3745L Missense 19/27 - 1
4-187524448-G-A c.11232C>T p.P3744= Synonymous 19/27 - 1
4-187524448-G-C c.11232C>G p.P3744= Synonymous 19/27 - 1
4-187524448-G-T c.11232C>A p.P3744= Synonymous 19/27 - 1
4-187524449-GG-AA c.11230_11231delinsTT p.P3744F Missense 19/27 - 1
4-187524450-G-C c.11230C>G p.P3744A Missense 19/27 - 2
4-187524452-C-A c.11228G>T p.C3743F Missense 19/27 - 1
4-187524456-C-A c.11224G>T p.D3742Y Missense 19/27 - 1
4-187524456-C-G c.11224G>C p.D3742H Missense 19/27 - 1
4-187524459-G-C c.11221C>G p.L3741V Missense 19/27 - 1
4-187524461-C-G c.11219G>C p.G3740A Missense 19/27 - 1
4-187524462-C-A c.11218G>T p.G3740* Nonsense 19/27 - 3
4-187524463-C-A c.11217G>T p.A3739= Synonymous 19/27 - 2
4-187524463-C-G c.11217G>C p.A3739= Synonymous 19/27 - 2
4-187524463-C-T c.11217G>A p.A3739= Synonymous 19/27 - 2
4-187524464-G-A c.11216C>T p.A3739V Missense 19/27 - 13
4-187524465-C-T c.11215G>A p.A3739T Missense 19/27 - 2
4-187524466-G-A c.11214C>T p.C3738= Synonymous 19/27 - 1
4-187524467-GCA-G c.11212_11213del p.C3738Rfs*12 Frameshift 19/27 - 1
4-187524475-C-T c.11205G>A p.Q3735= Synonymous 19/27 - 1
4-187524477-G-A c.11203C>T p.Q3735* Nonsense 19/27 - 5
4-187524477-G-C c.11203C>G p.Q3735E Missense 19/27 - 1
4-187524478-G-A c.11202C>T p.F3734= Synonymous 19/27 - 1
4-187524478-G-C c.11202C>G p.F3734L Missense 19/27 - 4
4-187524478-G-T c.11202C>A p.F3734L Missense 19/27 - 1
4-187524480-A-G c.11200T>C p.F3734L Missense 19/27 - 1
4-187524485-T-A c.11195A>T p.N3732I Missense 19/27 - 1
4-187524485-T-C c.11195A>G p.N3732S Missense 19/27 - 3
4-187524488-A-C c.11192T>G p.L3731R Missense 19/27 - 3
4-187524490-T-C c.11190A>G p.I3730M Missense 19/27 - 1
4-187524493-C-T c.11187G>A p.R3729= Synonymous 19/27 - 1
4-187524497-A-T c.11183T>A p.V3728D Missense 19/27 - 1
4-187524498-C-G c.11182G>C p.V3728L Missense 19/27 - 1
4-187524499-T-A c.11181A>T p.G3727= Synonymous 19/27 - 1
4-187524499-T-C c.11181A>G p.G3727= Synonymous 19/27 - 1
4-187524499-T-G c.11181A>C p.G3727= Synonymous 19/27 - 1
4-187524500-C-A c.11180G>T p.G3727V Missense 19/27 - 1
4-187524501-C-A c.11179G>T p.G3727* Nonsense 19/27 - 1
4-187524502-A-G c.11178T>C p.I3726= Synonymous 19/27 - 1
4-187524502-A-T c.11178T>A p.I3726= Synonymous 19/27 - 1
4-187524503-A-G c.11177T>C p.I3726T Missense 19/27 - 1
4-187524503-A-T c.11177T>A p.I3726N Missense 19/27 - 10
4-187524504-T-C c.11176A>G p.I3726V Missense 19/27 - 1
4-187524505-G-A c.11175C>T p.I3725= Synonymous 19/27 - 3
4-187524505-G-T c.11175C>A p.I3725= Synonymous 19/27 - 2
4-187524508-T-A c.11172A>T p.E3724D Missense 19/27 - 1
4-187524508-T-G c.11172A>C p.E3724D Missense 19/27 - 1
4-187524510-C-A c.11170G>T p.E3724* Nonsense 19/27 - 1
4-187524510-C-T c.11170G>A p.E3724K Missense 19/27 - 1
4-187524515-A-G c.11165T>C p.I3722T Missense 19/27 - 1
4-187524516-T-C c.11164A>G p.I3722V Missense 19/27 - 1
4-187524519-C-T c.11161G>A p.D3721N Missense 19/27 - 1
4-187524523-C-A c.11157G>T p.V3719= Synonymous 19/27 - 1
4-187524523-CAC-AAA c.11155_11157delinsTTT p.V3719F Missense 19/27 - 1
4-187524524-A-T c.11156T>A p.V3719E Missense 19/27 - 1
4-187524525-C-T c.11155G>A p.V3719M Missense 19/27 - 6
4-187524526-G-A c.11154C>T p.S3718= Synonymous 19/27 - 1
4-187524527-G-T c.11153C>A p.S3718Y Missense 19/27 - 1
4-187524530-G-C c.11150C>G p.S3717C Missense 19/27 - 3
4-187524536-A-G c.11144T>C p.I3715T Missense 19/27 - 1
4-187524540-T-A c.11140A>T p.K3714* Nonsense 19/27 - 1
4-187524542-T-C c.11138A>G p.H3713R Missense 19/27 - 1
4-187524546-G-A c.11134C>T p.L3712= Synonymous 19/27 - 1
4-187524550-T-C c.11130A>G p.Q3710= Synonymous 19/27 - 1
4-187524560-G-A c.11120C>T p.S3707L Missense 19/27 - 1
4-187524560-G-C c.11120C>G p.S3707* Nonsense 19/27 - 4
4-187524560-G-T c.11120C>A p.S3707* Nonsense 19/27 - 2
4-187524562-G-A c.11118C>T p.I3706= Synonymous 19/27 - 1
4-187524562-G-T c.11118C>A p.I3706= Synonymous 19/27 - 2
4-187524564-T-C c.11116A>G p.I3706V Missense 19/27 - 1
4-187524565-C-T c.11115G>A p.Q3705= Synonymous 19/27 - 2
4-187524567-G-A c.11113C>T p.Q3705* Nonsense 19/27 - 6
4-187524571-A-C c.11109T>G p.S3703R Missense 19/27 - 5
4-187524571-A-T c.11109T>A p.S3703R Missense 19/27 - 1
4-187524573-T-G c.11107A>C p.S3703R Missense 19/27 - 1
4-187524572-C-T c.11108G>A p.S3703N Missense 19/27 - 1
4-187524581-T-C c.11099A>G p.K3700R Missense 19/27 - 1
4-187524584-T-C c.11096A>G p.E3699G Missense 19/27 - 1
4-187524584-T-G c.11096A>C p.E3699A Missense 19/27 - 1
4-187524585-C-A c.11095G>T p.E3699* Nonsense 19/27 - 1
4-187524600-C-T c.11080G>A p.V3694I Missense 19/27 - 8
4-187524602-T-C c.11078A>G p.D3693G Missense 19/27 - 5
4-187524608-T-C c.11072A>G p.H3691R Missense 19/27 - 6
4-187524611-G-A c.11069C>T p.P3690L Missense 19/27 - 1
4-187524611-G-T c.11069C>A p.P3690Q Missense 19/27 - 1
4-187524617-G-C c.11063C>G p.P3688R Missense 19/27 - 2
4-187524618-G-T c.11062C>A p.P3688T Missense 19/27 - 1
4-187524620-T-C c.11060A>G p.E3687G Missense 19/27 - 1
4-187524617-GGTTCAGAGGACTGCAAACTAACAATCTGTATGTC-G c.11029_11062del p.D3677Lfs*11 Frameshift 19/27 - 1
4-187524622-A-C c.11058T>G p.S3686= Synonymous 19/27 - 1
4-187524622-A-G c.11058T>C p.S3686= Synonymous 19/27 - 1
4-187524622-A-T c.11058T>A p.S3686= Synonymous 19/27 - 1
4-187524623-G-A c.11057C>T p.S3686F Missense 19/27 - 1
4-187524625-G-A c.11055C>T p.S3685= Synonymous 19/27 - 1
4-187524628-C-T c.11052G>A p.Q3684= Synonymous 19/27 - 1
4-187524630-G-A c.11050C>T p.Q3684* Nonsense 19/27 - 4
4-187524637-A-C c.11043T>G p.V3681= Synonymous 19/27 - 1
4-187524637-A-G c.11043T>C p.V3681= Synonymous 19/27 - 2
4-187524637-A-T c.11043T>A p.V3681= Synonymous 19/27 - 1
4-187524640-A-C c.11040T>G p.I3680M Missense 19/27 - 1
4-187524644-T-C c.11036A>G p.Q3679R Missense 19/27 - 1
4-187524651-C-T c.11029G>A p.D3677N Missense 19/27 - 7
4-187524652-G-A c.11028C>T p.N3676= Synonymous 19/27 - 2
4-187524656-C-A c.11024G>T p.R3675M Missense 19/27 - 3
4-187524657-T-A c.11023A>T p.R3675W Missense 19/27 - 1
4-187524666-C-G c.11014G>C p.G3672R Missense 19/27 - 1
4-187524667-C-A c.11013G>T p.L3671= Synonymous 19/27 - 1
4-187524667-C-G c.11013G>C p.L3671= Synonymous 19/27 - 1
4-187524667-C-T c.11013G>A p.L3671= Synonymous 19/27 - 1
4-187524669-G-A c.11011C>T p.L3671= Synonymous 19/27 - 1
4-187524668-A-C c.11012T>G p.L3671R Missense 19/27 - 2
4-187524670-G-A c.11010C>T p.I3670= Synonymous 19/27 - 1
4-187524670-G-T c.11010C>A p.I3670= Synonymous 19/27 - 1
4-187524672-T-A c.11008A>T p.I3670F Missense 19/27 - 1
4-187524674-T-C c.11006A>G p.N3669S Missense 19/27 - 1
4-187524677-C-T c.11003G>A p.R3668Q Missense 19/27 - 2
4-187524678-G-A c.11002C>T p.R3668W Missense 19/27 - 2
4-187524680-A-G c.11000T>C p.L3667S Missense 19/27 - 1
4-187524684-C-T c.10996G>A p.A3666T Missense 19/27 - 1
4-187524686-C-T c.10994G>A p.R3665Q Missense 19/27 - 5
4-187524687-G-A c.10993C>T p.R3665* Nonsense 19/27 - 7
4-187524689-T-C c.10991A>G p.Q3664R Missense 19/27 - 1
4-187524690-G-A c.10990C>T p.Q3664* Nonsense 19/27 - 1
4-187524689-TG-T c.10990del p.Q3664Sfs*10 Frameshift 19/27 - 1
4-187524691-G-A c.10989C>T p.F3663= Synonymous 19/27 - 2
4-187524698-C-T c.10982G>A p.R3661H Missense 19/27 - 5
4-187524699-G-A c.10981C>T p.R3661C Missense 19/27 - 4
4-187524700-C-T c.10980G>A p.W3660* Nonsense 19/27 - 2
4-187524701-C-T c.10979G>A p.W3660* Nonsense 19/27 - 3
4-187524706-G-C c.10974C>G p.D3658E Missense 19/27 - 2
4-187524708-C-T c.10972G>A p.D3658N Missense 19/27 - 1
4-187524710-C-G c.10970G>C p.G3657A Missense 19/27 - 1
4-187524711-C-A c.10969G>T p.G3657C Missense 19/27 - 2
4-187524714-C-G c.10966G>C p.V3656L Missense 19/27 - 1
4-187524714-C-T c.10966G>A p.V3656I Missense 19/27 - 2
4-187524715-G-A c.10965C>T p.F3655= Synonymous 19/27 - 8
4-187524715-G-T c.10965C>A p.F3655L Missense 19/27 - 1
4-187524720-C-A c.10960G>T p.E3654* Nonsense 19/27 - 1
4-187524723-C-A c.10957G>T p.E3653* Nonsense 19/27 - 1
4-187524723-C-G c.10957G>C p.E3653Q Missense 19/27 - 1
4-187524724-C-T c.10956G>A p.P3652= Synonymous 19/27 - 1
4-187524725-G-A c.10955C>T p.P3652L Missense 19/27 - 4
4-187524725-G-C c.10955C>G p.P3652R Missense 19/27 - 1
4-187524726-G-A c.10954C>T p.P3652S Missense 19/27 - 1
4-187524728-G-C c.10952C>G p.T3651S Missense 19/27 - 1
4-187524729-T-A c.10951A>T p.T3651S Missense 19/27 - 1
4-187524730-G-A c.10950C>T p.L3650= Synonymous 19/27 - 1
4-187524730-G-C c.10950C>G p.L3650= Synonymous 19/27 - 1
4-187524730-G-T c.10950C>A p.L3650= Synonymous 19/27 - 1
4-187524732-G-A c.10948C>T p.L3650F Missense 19/27 - 1
4-187524734-T-C c.10946A>G p.N3649S Missense 19/27 - 1
4-187524737-G-A c.10943C>T p.A3648V Missense 19/27 - 2
4-187524737-G-C c.10943C>G p.A3648G Missense 19/27 - 1
4-187524738-C-G c.10942G>C p.A3648P Missense 19/27 - 1
4-187524743-C-T c.10937G>A p.R3646H Missense 19/27 - 1
4-187524744-G-A c.10936C>T p.R3646C Missense 19/27 - 1
4-187524745-G-A c.10935C>T p.I3645= Synonymous 19/27 - 2
4-187524748-C-T c.10932G>A p.A3644= Synonymous 19/27 - 1
4-187524749-G-A c.10931C>T p.A3644V Missense 19/27 - 3
4-187524750-C-T c.10930G>A p.A3644T Missense 19/27 - 3
4-187524753-T-C c.10927A>G p.I3643V Missense 19/27 - 1
4-187524757-G-C c.10923C>G p.H3641Q Missense 19/27 - 1
4-187524757-G-T c.10923C>A p.H3641Q Missense 19/27 - 1
4-187524761-T-C c.10919A>G p.N3640S Missense 19/27 - 1
4-187524763-C-A c.10917G>T p.L3639F Missense 19/27 - 1
4-187524763-CAA-GAT c.10915_10917delinsATC p.L3639I Missense 19/27 - 1
4-187524763-C-G c.10917G>C p.L3639F Missense 19/27 - 1
4-187524766-C-A c.10914G>T p.M3638I Missense 19/27 - 1
4-187524766-C-G c.10914G>C p.M3638I Missense 19/27 - 1
4-187524766-C-T c.10914G>A p.M3638I Missense 19/27 - 1
4-187524768-T-A c.10912A>T p.M3638L Missense 19/27 - 1
4-187524771-C-T c.10909G>A p.E3637K Missense 19/27 - 1
4-187524774-G-A c.10906C>T p.Q3636* Nonsense 19/27 - 3
4-187524778-G-A c.10902C>T p.V3634= Synonymous 19/27 - 2
4-187524776-GTGACTTGTCTGATA-G c.10890_10903del p.I3631Tfs*23 Frameshift 19/27 - 3
4-187524781-T-C c.10899A>G p.Q3633= Synonymous 19/27 - 1
4-187524784-T-A c.10896A>T p.R3632S Missense 19/27 - 2
4-187524784-T-G c.10896A>C p.R3632S Missense 19/27 - 2
4-187524785-CT-TG c.10894_10895delinsCA p.R3632Q Missense 19/27 - 1
4-187524787-G-A c.10893C>T p.I3631= Synonymous 19/27 - 3
4-187524787-G-C c.10893C>G p.I3631M Missense 19/27 - 3
4-187524789-T-C c.10891A>G p.I3631V Missense 19/27 - 1
4-187524791-T-C c.10889A>G p.H3630R Missense 19/27 - 7
4-187524795-AC-A c.10885del p.V3629Cfs*11 Frameshift 19/27 - 1
4-187524795-C-A c.10885G>T p.V3629L Missense 19/27 - 2
4-187524796-CT-C c.10884del p.V3629Cfs*11 Frameshift 19/27 - 1
4-187524804-C-T c.10876G>A p.D3626N Missense 19/27 - 4
4-187524806-G-T c.10874C>A p.A3625D Missense 19/27 - 1
4-187524809-A-C c.10871T>G p.V3624G Missense 19/27 - 1
4-187524809-A-G c.10871T>C p.V3624A Missense 19/27 - 1
4-187524812-G-A c.10868C>T p.T3623M Missense 19/27 - 4
4-187524815-G-A c.10865C>T p.T3622M Missense 19/27 - 3
4-187524816-T-C c.10864A>G p.T3622A Missense 19/27 - 1
4-187524816-T-G c.10864A>C p.T3622P Missense 19/27 - 1
4-187524820-C-T c.10860G>A p.K3620= Synonymous 19/27 - 1
4-187524821-T-C c.10859A>G p.K3620R Missense 19/27 - 1
4-187524823-CCCATC-GAGTGG c.10852_10857delinsCCACTC p.D3618_G3619delinsPL MultiAAMissense 19/27 - 1
4-187524824-C-A c.10856G>T p.G3619V Missense 19/27 - 1
4-187524824-C-T c.10856G>A p.G3619E Missense 19/27 - 2
4-187524825-C-A c.10855G>T p.G3619W Missense 19/27 - 4
4-187524828-C-G c.10852G>C p.D3618H Missense 19/27 - 1
4-187524831-T-C c.10849A>G p.T3617A Missense 19/27 - 3
4-187524834-C-T c.10846G>A p.V3616I Missense 19/27 - 1
4-187524835-G-A c.10845C>T p.S3615= Synonymous 19/27 - 1
4-187524836-C-T c.10844G>A p.S3615N Missense 19/27 - 1
4-187524844-G-A c.10836C>T p.L3612= Synonymous 19/27 - 2
4-187524844-G-C c.10836C>G p.L3612= Synonymous 19/27 - 3
4-187524844-G-T c.10836C>A p.L3612= Synonymous 19/27 - 2
4-187524846-G-T c.10834C>A p.L3612I Missense 19/27 - 1
4-187524849-G-A c.10831C>T p.L3611F Missense 19/27 - 4
4-187524850-G-C c.10830C>G p.Y3610* Nonsense 19/27 - 7
4-187524850-G-T c.10830C>A p.Y3610* Nonsense 19/27 - 4
4-187524852-A-G c.10828T>C p.Y3610H Missense 19/27 - 2
4-187524855-G-T c.10825C>A p.Q3609K Missense 19/27 - 1
4-187524857-C-G c.10823G>C p.G3608A Missense 19/27 - 2
4-187524857-C-T c.10823G>A p.G3608E Missense 19/27 - 1
4-187524858-C-A c.10822G>T p.G3608W Missense 19/27 - 6
4-187524859-T-C c.10821A>G p.I3607M Missense 19/27 - 2
4-187524861-T-C c.10819A>G p.I3607V Missense 19/27 - 3
4-187524864-C-G c.10816G>C p.D3606H Missense 19/27 - 1
4-187524871-T-A c.10809A>T p.K3603N Missense 19/27 - 4
4-187524871-T-G c.10809A>C p.K3603N Missense 19/27 - 4
4-187524872-T-C c.10808A>G p.K3603R Missense 19/27 - 1
4-187524872-T-G c.10808A>C p.K3603T Missense 19/27 - 1
4-187524873-T-A c.10807A>T p.K3603* Nonsense 19/27 - 1
4-187524878-G-A c.10802C>T p.A3601V Missense 19/27 - 2
4-187524882-T-A c.10798A>T p.I3600L Missense 19/27 - 1
4-187524882-T-C c.10798A>G p.I3600V Missense 19/27 - 1
4-187524882-T-G c.10798A>C p.I3600L Missense 19/27 - 1
4-187524885-G-A c.10795C>T p.L3599= Synonymous 19/27 - 1
4-187524889-G-T c.10791C>A p.G3597= Synonymous 19/27 - 1
4-187524890-C-T c.10790G>A p.G3597D Missense 19/27 - 2
4-187524889-GC-G c.10790del p.G3597Afs*3 Frameshift 19/27 - 2
4-187524889-G-GC c.10790dup p.K3598Qfs*61 Frameshift 19/27 - 1
4-187524897-T-C c.10783A>G p.T3595A Missense 19/27 - 2
4-187524899-C-T c.10781G>A p.S3594N Missense 19/27 - 3
4-187524901-G-A c.10779C>T p.S3593= Synonymous 19/27 - 2
4-187524902-G-A c.10778C>T p.S3593F Missense 19/27 - 1
4-187524906-C-A c.10774G>T p.V3592F Missense 19/27 - 1
4-187524907-A-G c.10773T>C p.S3591= Synonymous 19/27 - 2
4-187524910-G-A c.10770C>T p.F3590= Synonymous 19/27 - 2
4-187524910-G-T c.10770C>A p.F3590L Missense 19/27 - 5
4-187524910-G-C c.10770C>G p.F3590L Missense 19/27 - 3
4-187524912-A-G c.10768T>C p.F3590L Missense 19/27 - 3
4-187524917-T-C c.10763A>G p.N3588S Missense 19/27 - 2
4-187524921-C-A c.10759G>T p.D3587Y Missense 19/27 - 1
4-187524921-C-T c.10759G>A p.D3587N Missense 19/27 - 1
4-187524922-C-A c.10758G>T p.M3586I Missense 19/27 - 1
4-187524922-C-G c.10758G>C p.M3586I Missense 19/27 - 1
4-187524922-C-T c.10758G>A p.M3586I Missense 19/27 - 1
4-187524923-A-G c.10757T>C p.M3586T Missense 19/27 - 2
4-187524927-G-A c.10753C>T p.Q3585* Nonsense 19/27 - 4
4-187524930-G-A c.10750C>T p.P3584S Missense 19/27 - 5
4-187524932-T-G c.10748A>C p.D3583A Missense 19/27 - 1
4-187524933-C-T c.10747G>A p.D3583N Missense 19/27 - 4
4-187524934-GAG-CAT c.10744_10746delinsATG p.L3582M Missense 19/27 - 1
4-187524943-G-A c.10737C>T p.T3579= Synonymous 19/27 - 1
4-187524943-G-C c.10737C>G p.T3579= Synonymous 19/27 - 1
4-187524943-G-T c.10737C>A p.T3579= Synonymous 19/27 - 2
4-187524950-G-A c.10730C>T p.T3577I Missense 19/27 - 2
4-187524950-G-C c.10730C>G p.T3577S Missense 19/27 - 1
4-187524960-C-T c.10720G>A p.V3574M Missense 19/27 - 5
4-187524961-G-A c.10719C>T p.D3573= Synonymous 19/27 - 4
4-187524966-G-A c.10714C>T p.Q3572* Nonsense 19/27 - 2
4-187524968-T-A c.10712A>T p.D3571V Missense 19/27 - 2
4-187524971-G-A c.10709C>T p.T3570I Missense 19/27 - 2
4-187524973-G-A c.10707C>T p.A3569= Synonymous 19/27 - 1
4-187524973-G-C c.10707C>G p.A3569= Synonymous 19/27 - 1
4-187524973-G-T c.10707C>A p.A3569= Synonymous 19/27 - 1
4-187524975-C-A c.10705G>T p.A3569S Missense 19/27 - 1
4-187524984-T-C c.10696A>G p.K3566E Missense 19/27 - 1
4-187524987-C-G c.10693G>C p.G3565R Missense 19/27 - 1
4-187524987-C-T c.10693G>A p.G3565R Missense 19/27 - 1
4-187524991-G-A c.10689C>T p.V3563= Synonymous 19/27 - 5
4-187524991-G-C c.10689C>G p.V3563= Synonymous 19/27 - 1
4-187524991-G-T c.10689C>A p.V3563= Synonymous 19/27 - 1
4-187524992-A-G c.10688T>C p.V3563A Missense 19/27 - 1
4-187524993-C-T c.10687G>A p.V3563I Missense 19/27 - 4
4-187524994-G-A c.10686C>T p.G3562= Synonymous 19/27 - 5
4-187524994-G-C c.10686C>G p.G3562= Synonymous 19/27 - 3
4-187524994-G-T c.10686C>A p.G3562= Synonymous 19/27 - 3
4-187524995-C-A c.10685G>T p.G3562V Missense 19/27 - 2
4-187524999-C-A c.10681G>T p.G3561C Missense 19/27 - 5
4-187525001-G-A c.10679C>T p.S3560L Missense 19/27 - 1
4-187525001-G-C c.10679C>G p.S3560* Nonsense 19/27 - 8
4-187525001-G-T c.10679C>A p.S3560* Nonsense 19/27 - 5
4-187525001-G-GA c.10678dup p.S3560Ffs*17 Frameshift 19/27 - 1
4-187525003-G-C c.10677C>G p.Y3559* Nonsense 19/27 - 5
4-187525003-G-T c.10677C>A p.Y3559* Nonsense 19/27 - 3
4-187525007-T-C c.10673A>G p.E3558G Missense 19/27 - 1
4-187525008-C-A c.10672G>T p.E3558* Nonsense 19/27 - 5
4-187525010-T-C c.10670A>G p.E3557G Missense 19/27 - 1
4-187525011-C-T c.10669G>A p.E3557K Missense 19/27 - 1
4-187525013-C-A c.10667G>T p.G3556V Missense 19/27 - 1
4-187525013-C-T c.10667G>A p.G3556E Missense 19/27 - 2
4-187525014-C-G c.10666G>C p.G3556R Missense 19/27 - 1
4-187525014-C-T c.10666G>A p.G3556R Missense 19/27 - 2
4-187525016-G-A c.10664C>T p.S3555F Missense 19/27 - 2
4-187525017-A-G c.10663T>C p.S3555P Missense 19/27 - 1
4-187525018-A-C c.10662T>G p.S3554= Synonymous 19/27 - 2
4-187525018-A-G c.10662T>C p.S3554= Synonymous 19/27 - 2
4-187525018-A-T c.10662T>A p.S3554= Synonymous 19/27 - 2
4-187525019-G-T c.10661C>A p.S3554Y Missense 19/27 - 2
4-187525020-A-C c.10660T>G p.S3554A Missense 19/27 - 45
4-187525020-A-T c.10660T>A p.S3554T Missense 19/27 - 9
4-187525022-G-T c.10658C>A p.T3553N Missense 19/27 - 1
4-187525027-G-C c.10653C>G p.F3551L Missense 19/27 - 1
4-187525027-G-T c.10653C>A p.F3551L Missense 19/27 - 1
4-187525029-A-G c.10651T>C p.F3551L Missense 19/27 - 1
4-187525032-T-C c.10648A>G p.I3550V Missense 19/27 - 1
4-187525033-C-A c.10647G>T p.E3549D Missense 19/27 - 1
4-187525035-C-A c.10645G>T p.E3549* Nonsense 19/27 - 3
4-187525035-C-T c.10645G>A p.E3549K Missense 19/27 - 2
4-187525036-C-T c.10644G>A p.L3548= Synonymous 19/27 - 1
4-187525048-C-T c.10632G>A p.A3544= Synonymous 19/27 - 2
4-187525049-G-A c.10631C>T p.A3544V Missense 19/27 - 4
4-187525049-G-C c.10631C>G p.A3544G Missense 19/27 - 3
4-187525054-C-A c.10626G>T p.P3542= Synonymous 19/27 - 1
4-187525054-C-G c.10626G>C p.P3542= Synonymous 19/27 - 1
4-187525054-C-T c.10626G>A p.P3542= Synonymous 19/27 - 1
4-187525055-G-A c.10625C>T p.P3542L Missense 19/27 - 1
4-187525056-G-A c.10624C>T p.P3542S Missense 19/27 - 2
4-187525056-G-C c.10624C>G p.P3542A Missense 19/27 - 2
4-187525056-G-T c.10624C>A p.P3542T Missense 19/27 - 1
4-187525058-T-C c.10622A>G p.Y3541C Missense 19/27 - 1
4-187525060-G-A c.10620C>T p.I3540= Synonymous 19/27 - 1
4-187525060-G-T c.10620C>A p.I3540= Synonymous 19/27 - 1
4-187525062-T-C c.10618A>G p.I3540V Missense 19/27 - 1
4-187525064-C-G c.10616G>C p.S3539T Missense 19/27 - 1
4-187525064-C-T c.10616G>A p.S3539N Missense 19/27 - 1
4-187525066-C-A c.10614G>T p.E3538D Missense 19/27 - 3
4-187525066-C-G c.10614G>C p.E3538D Missense 19/27 - 2
4-187525068-C-T c.10612G>A p.E3538K Missense 19/27 - 1
4-187525071-C-T c.10609G>A p.E3537K Missense 19/27 - 3
4-187525078-C-T c.10602G>A p.R3534= Synonymous 19/27 - 1
4-187525080-T-G c.10600A>C p.R3534= Synonymous 19/27 - 1
4-187525085-T-C c.10595A>G p.D3532G Missense 19/27 - 1
4-187525085-T-G c.10595A>C p.D3532A Missense 19/27 - 1
4-187525086-C-A c.10594G>T p.D3532Y Missense 19/27 - 1
4-187525087-A-G c.10593T>C p.I3531= Synonymous 19/27 - 1
4-187525087-A-T c.10593T>A p.I3531= Synonymous 19/27 - 1
4-187525088-A-G c.10592T>C p.I3531T Missense 19/27 - 1
4-187525089-T-A c.10591A>T p.I3531F Missense 19/27 - 1
4-187525090-G-C c.10590C>G p.Y3530* Nonsense 19/27 - 2
4-187525095-T-A c.10585A>T p.T3529S Missense 19/27 - 1
4-187525097-AA-TG c.10582_10583delinsCA p.L3528Q Missense 19/27 - 2
4-187525104-A-G c.10576T>C p.S3526P Missense 19/27 - 4
4-187525104-A-T c.10576T>A p.S3526T Missense 19/27 - 2
4-187525106-A-T c.10574T>A p.L3525* Nonsense 19/27 - 2
4-187525108-C-A c.10572G>T p.Q3524H Missense 19/27 - 1
4-187525108-C-G c.10572G>C p.Q3524H Missense 19/27 - 1
4-187525109-T-C c.10571A>G p.Q3524R Missense 19/27 - 1
4-187525109-T-G c.10571A>C p.Q3524P Missense 19/27 - 2
4-187525110-G-A c.10570C>T p.Q3524* Nonsense 19/27 - 6
4-187525110-G-T c.10570C>A p.Q3524K Missense 19/27 - 1
4-187525112-G-C c.10568C>G p.P3523R Missense 19/27 - 1
4-187525112-GG-AT c.10567_10568delinsAT p.P3523I Missense 19/27 - 1
4-187525112-G-T c.10568C>A p.P3523H Missense 19/27 - 1
4-187525130-A-G c.10550T>C p.V3517A Missense 19/27 - 1
4-187525363-C-G c.10548+168G>C - IntronicSNV - 18/26 3
4-187525374-G-C c.10548+157C>G - IntronicSNV - 18/26 1
4-187525374-G-T c.10548+157C>A - IntronicSNV - 18/26 1
4-187525530-C-A c.10548+1G>T - IntronicSNV - 18/26 1
4-187525543-T-TA c.10535dup p.L3512Ffs*9 Frameshift 18/27 - 1
4-187525540-CAGTA-C c.10535_10538del p.L3512Cfs*3 Frameshift 18/27 - 1
4-187525546-G-T c.10533C>A p.Y3511* Nonsense 18/27 - 1
4-187525547-T-G c.10532A>C p.Y3511S Missense 18/27 - 1
4-187525555-T-A c.10524A>T p.K3508N Missense 18/27 - 1
4-187525555-T-G c.10524A>C p.K3508N Missense 18/27 - 1
4-187525561-C-A c.10518G>T p.K3506N Missense 18/27 - 6
4-187525561-C-G c.10518G>C p.K3506N Missense 18/27 - 1
4-187525563-T-C c.10516A>G p.K3506E Missense 18/27 - 1
4-187525569-T-A c.10510A>T p.K3504* Nonsense 18/27 - 4
4-187525570-G-C c.10509C>G p.I3503M Missense 18/27 - 2
4-187525575-C-T c.10504G>A p.A3502T Missense 18/27 - 3
4-187525580-G-A c.10499C>T p.S3500L Missense 18/27 - 5
4-187525580-GA-CC c.10498_10499delinsGG p.S3500G Missense 18/27 - 1
4-187525580-G-C c.10499C>G p.S3500* Nonsense 18/27 - 4
4-187525580-G-T c.10499C>A p.S3500* Nonsense 18/27 - 2
4-187525585-C-A c.10494G>T p.L3498= Synonymous 18/27 - 3
4-187525585-C-G c.10494G>C p.L3498= Synonymous 18/27 - 3
4-187525585-C-T c.10494G>A p.L3498= Synonymous 18/27 - 3
4-187525587-G-A c.10492C>T p.L3498= Synonymous 18/27 - 3
4-187525590-G-A c.10489C>T p.L3497F Missense 18/27 - 1
4-187525592-A-C c.10487T>G p.V3496G Missense 18/27 - 1
4-187525592-A-G c.10487T>C p.V3496A Missense 18/27 - 1
4-187525595-C-A c.10484G>T p.G3495V Missense 18/27 - 2
4-187525595-C-T c.10484G>A p.G3495E Missense 18/27 - 1
4-187525596-C-G c.10483G>C p.G3495R Missense 18/27 - 2
4-187525596-C-T c.10483G>A p.G3495R Missense 18/27 - 4
4-187525599-G-A c.10480C>T p.Q3494* Nonsense 18/27 - 2
4-187525600-C-A c.10479G>T p.P3493= Synonymous 18/27 - 3
4-187525600-C-G c.10479G>C p.P3493= Synonymous 18/27 - 1
4-187525600-C-T c.10479G>A p.P3493= Synonymous 18/27 - 1
4-187525601-G-A c.10478C>T p.P3493L Missense 18/27 - 9
4-187525604-T-A c.10475A>T p.N3492I Missense 18/27 - 1
4-187525614-A-AGAAAAGGACAAATTTCTTTAT c.10464_10465insATAAAGAAATTTGTCCTTTTC p.A3488_F3489insIKKFVLF InFrameInsertion 18/27 - 1
4-187525618-C-A c.10461G>T p.K3487N Missense 18/27 - 4
4-187525618-C-G c.10461G>C p.K3487N Missense 18/27 - 4
4-187525619-T-A c.10460A>T p.K3487M Missense 18/27 - 1
4-187525617-CCTT-C c.10459_10461del p.K3487del InFrameDeletion 18/27 - 1
4-187525621-C-A c.10458G>T p.E3486D Missense 18/27 - 2
4-187525621-C-G c.10458G>C p.E3486D Missense 18/27 - 3
4-187525625-T-G c.10454A>C p.D3485A Missense 18/27 - 1
4-187525626-C-G c.10453G>C p.D3485H Missense 18/27 - 3
4-187525632-C-T c.10447G>A p.G3483R Missense 18/27 - 2
4-187525634-G-T c.10445C>A p.T3482N Missense 18/27 - 1
4-187525635-T-C c.10444A>G p.T3482A Missense 18/27 - 1
4-187525637-A-G c.10442T>C p.V3481A Missense 18/27 - 1
4-187525640-A-G c.10439T>C p.I3480T Missense 18/27 - 1
4-187525641-T-C c.10438A>G p.I3480V Missense 18/27 - 3
4-187525643-G-T c.10436C>A p.T3479N Missense 18/27 - 1
4-187525655-G-C c.10424C>G p.P3475R Missense 18/27 - 1
4-187525653-AG-A c.10425del p.F3476Sfs*6 Frameshift 18/27 - 1
4-187525657-T-C c.10422A>G p.P3474= Synonymous 18/27 - 1
4-187525661-C-T c.10418G>A p.G3473D Missense 18/27 - 1
4-187525662-C-T c.10417G>A p.G3473S Missense 18/27 - 1
4-187525663-G-A c.10416C>T p.N3472= Synonymous 18/27 - 3
4-187525663-G-C c.10416C>G p.N3472K Missense 18/27 - 1
4-187525665-T-C c.10414A>G p.N3472D Missense 18/27 - 3
4-187525668-G-T c.10411C>A p.H3471N Missense 18/27 - 3
4-187525673-G-T c.10406C>A p.S3469Y Missense 18/27 - 3
4-187525676-T-A c.10403A>T p.D3468V Missense 18/27 - 1
4-187525677-C-A c.10402G>T p.D3468Y Missense 18/27 - 1
4-187525679-T-G c.10400A>C p.E3467A Missense 18/27 - 1
4-187525680-C-A c.10399G>T p.E3467* Nonsense 18/27 - 1
4-187525680-C-T c.10399G>A p.E3467K Missense 18/27 - 1
4-187525689-C-A c.10390G>T p.V3464L Missense 18/27 - 1
4-187525689-C-G c.10390G>C p.V3464L Missense 18/27 - 1
4-187525689-C-T c.10390G>A p.V3464I Missense 18/27 - 1
4-187525694-A-G c.10385T>C p.L3462P Missense 18/27 - 3
4-187525698-G-A c.10381C>T p.Q3461* Nonsense 18/27 - 2
4-187525704-C-A c.10375G>T p.V3459L Missense 18/27 - 1
4-187525704-C-G c.10375G>C p.V3459L Missense 18/27 - 1
4-187525704-C-T c.10375G>A p.V3459M Missense 18/27 - 5
4-187525705-G-A c.10374C>T p.S3458= Synonymous 18/27 - 1
4-187525712-C-A c.10367G>T p.G3456V Missense 18/27 - 5
4-187525712-C-G c.10367G>C p.G3456A Missense 18/27 - 1
4-187525716-C-T c.10363G>A p.V3455M Missense 18/27 - 3
4-187525719-G-C c.10360C>G p.P3454A Missense 18/27 - 1
4-187525723-A-G c.10356T>C p.N3452= Synonymous 18/27 - 1
4-187525724-T-A c.10355A>T p.N3452I Missense 18/27 - 3
4-187525726-T-G c.10353A>C p.E3451D Missense 18/27 - 1
4-187525728-C-T c.10351G>A p.E3451K Missense 18/27 - 5
4-187525910-A-G c.10351-182T>C - IntronicSNV - 17/26 2
4-187525910-A-T c.10351-182T>A - IntronicSNV - 17/26 2
4-187525922-G-A c.10351-194C>T - IntronicSNV - 17/26 2
4-187525940-A-C c.10351-212T>G - IntronicSNV - 17/26 1
4-187525941-G-T c.10351-213C>A - IntronicSNV - 17/26 1
4-187527039-G-A c.10350+185C>T - IntronicSNV - 17/26 1
4-187527218-G-A c.10350+6C>T - IntronicSNV - 17/26 1
4-187527223-C-A c.10350+1G>T - IntronicSNV - 17/26 2
4-187527224-C-A c.10350G>T p.Q3450H Missense 17/27 - 1
4-187527224-C-G c.10350G>C p.Q3450H Missense 17/27 - 1
4-187527226-G-A c.10348C>T p.Q3450* Nonsense 17/27 - 7
4-187527227-G-A c.10347C>T p.I3449= Synonymous 17/27 - 2
4-187527240-T-C c.10334A>G p.Y3445C Missense 17/27 - 1
4-187527243-T-C c.10331A>G p.N3444S Missense 17/27 - 3
4-187527246-C-A c.10328G>T p.G3443V Missense 17/27 - 2
4-187527247-C-A c.10327G>T p.G3443* Nonsense 17/27 - 3
4-187527248-C-T c.10326G>A p.R3442= Synonymous 17/27 - 3
4-187527250-T-G c.10324A>C p.R3442= Synonymous 17/27 - 2
4-187527252-G-A c.10322C>T p.S3441F Missense 17/27 - 1
4-187527252-G-C c.10322C>G p.S3441C Missense 17/27 - 1
4-187527256-A-C c.10318T>G p.F3440V Missense 17/27 - 1
4-187527258-A-G c.10316T>C p.V3439A Missense 17/27 - 3
4-187527259-C-A c.10315G>T p.V3439F Missense 17/27 - 2
4-187527259-C-G c.10315G>C p.V3439L Missense 17/27 - 1
4-187527259-C-T c.10315G>A p.V3439I Missense 17/27 - 7
4-187527260-G-A c.10314C>T p.P3438= Synonymous 17/27 - 2
4-187527260-G-C c.10314C>G p.P3438= Synonymous 17/27 - 1
4-187527260-G-T c.10314C>A p.P3438= Synonymous 17/27 - 2
4-187527262-G-A c.10312C>T p.P3438S Missense 17/27 - 1
4-187527264-G-A c.10310C>T p.A3437V Missense 17/27 - 7
4-187527265-C-T c.10309G>A p.A3437T Missense 17/27 - 3
4-187527266-G-A c.10308C>T p.N3436= Synonymous 17/27 - 4
4-187527271-C-A c.10303G>T p.D3435Y Missense 17/27 - 1
4-187527273-T-A c.10301A>T p.N3434I Missense 17/27 - 1
4-187527280-C-T c.10294G>A p.D3432N Missense 17/27 - 3
4-187527281-G-A c.10293C>T p.S3431= Synonymous 17/27 - 3
4-187527281-G-C c.10293C>G p.S3431= Synonymous 17/27 - 2
4-187527281-G-T c.10293C>A p.S3431= Synonymous 17/27 - 2
4-187527282-G-A c.10292C>T p.S3431F Missense 17/27 - 1
4-187527284-C-A c.10290G>T p.V3430= Synonymous 17/27 - 1
4-187527284-C-G c.10290G>C p.V3430= Synonymous 17/27 - 1
4-187527284-C-T c.10290G>A p.V3430= Synonymous 17/27 - 1
4-187527289-C-T c.10285G>A p.D3429N Missense 17/27 - 3
4-187527290-G-A c.10284C>T p.I3428= Synonymous 17/27 - 2
4-187527290-G-C c.10284C>G p.I3428M Missense 17/27 - 1
4-187527290-G-T c.10284C>A p.I3428= Synonymous 17/27 - 1
4-187527295-T-A c.10279A>T p.N3427Y Missense 17/27 - 1
4-187527298-C-A c.10276G>T p.V3426L Missense 17/27 - 1
4-187527298-C-G c.10276G>C p.V3426L Missense 17/27 - 1
4-187527299-G-A c.10275C>T p.T3425= Synonymous 17/27 - 1
4-187527299-G-C c.10275C>G p.T3425= Synonymous 17/27 - 1
4-187527299-G-T c.10275C>A p.T3425= Synonymous 17/27 - 1
4-187527300-G-A c.10274C>T p.T3425I Missense 17/27 - 2
4-187527302-C-A c.10272G>T p.T3424= Synonymous 17/27 - 2
4-187527302-C-G c.10272G>C p.T3424= Synonymous 17/27 - 2
4-187527302-C-T c.10272G>A p.T3424= Synonymous 17/27 - 2
4-187527303-G-A c.10271C>T p.T3424M Missense 17/27 - 4
4-187527306-G-A c.10268C>T p.T3423M Missense 17/27 - 4
4-187527310-T-G c.10264A>C p.N3422H Missense 17/27 - 1
4-187527311-G-A c.10263C>T p.V3421= Synonymous 17/27 - 2
4-187527311-G-C c.10263C>G p.V3421= Synonymous 17/27 - 1
4-187527311-G-T c.10263C>A p.V3421= Synonymous 17/27 - 1
4-187527313-C-G c.10261G>C p.V3421L Missense 17/27 - 1
4-187527314-T-A c.10260A>T p.R3420S Missense 17/27 - 1
4-187527314-T-C c.10260A>G p.R3420= Synonymous 17/27 - 1
4-187527314-T-G c.10260A>C p.R3420S Missense 17/27 - 1
4-187527318-G-C c.10256C>G p.P3419R Missense 17/27 - 3
4-187527318-G-T c.10256C>A p.P3419H Missense 17/27 - 1
4-187527320-T-A c.10254A>T p.P3418= Synonymous 17/27 - 2
4-187527321-G-A c.10253C>T p.P3418L Missense 17/27 - 2
4-187527324-C-A c.10250G>T p.S3417I Missense 17/27 - 1
4-187527327-C-T c.10247G>A p.G3416D Missense 17/27 - 1
4-187527328-C-G c.10246G>C p.G3416R Missense 17/27 - 1
4-187527329-A-T c.10245T>A p.N3415K Missense 17/27 - 2
4-187527336-AGAAGCTTGAACCGTGAGCGTGTAACCTGAAATCTTTTCAGGCAAAAGACAGAATGCACG-A c.10207-27_10238del - Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 17/27 16/26 1
4-187527336-G-T c.10238C>A p.S3413Y Missense 17/27 - 1
4-187527343-G-A c.10231C>T p.Q3411* Nonsense 17/27 - 2
4-187527345-A-T c.10229T>A p.V3410D Missense 17/27 - 1
4-187527347-C-A c.10227G>T p.T3409= Synonymous 17/27 - 2
4-187527347-C-G c.10227G>C p.T3409= Synonymous 17/27 - 1
4-187527347-C-T c.10227G>A p.T3409= Synonymous 17/27 - 1
4-187527348-G-A c.10226C>T p.T3409M Missense 17/27 - 5
4-187527350-G-A c.10224C>T p.L3408= Synonymous 17/27 - 2
4-187527350-G-C c.10224C>G p.L3408= Synonymous 17/27 - 1
4-187527350-G-T c.10224C>A p.L3408= Synonymous 17/27 - 1
4-187527352-G-A c.10222C>T p.L3408F Missense 17/27 - 1
4-187527353-C-A c.10221G>T p.T3407= Synonymous 17/27 - 3
4-187527353-C-G c.10221G>C p.T3407= Synonymous 17/27 - 2
4-187527353-C-T c.10221G>A p.T3407= Synonymous 17/27 - 2
4-187527354-G-A c.10220C>T p.T3407M Missense 17/27 - 4
4-187527360-CC-TT c.10213_10214delinsAA p.G3405N Missense 17/27 - 1
4-187527361-C-A c.10213G>T p.G3405C Missense 17/27 - 3
4-187527363-G-C c.10211C>G p.S3404* Nonsense 17/27 - 4
4-187527363-G-T c.10211C>A p.S3404* Nonsense 17/27 - 2
4-187527365-A-C c.10209T>G p.I3403M Missense 17/27 - 1
4-187527365-A-G c.10209T>C p.I3403= Synonymous 17/27 - 1
4-187527365-A-T c.10209T>A p.I3403= Synonymous 17/27 - 2
4-187527366-A-G c.10208T>C p.I3403T Missense 17/27 - 1
4-187527472-A-G c.10207-105T>C - IntronicSNV - 16/26 4
4-187529904-G-A c.10206+433C>T - IntronicSNV - 16/26 1
4-187530313-C-T c.10206+24G>A - IntronicSNV - 16/26 11
4-187530335-A-T c.10206+2T>A - IntronicSNV - 16/26 1
4-187530336-C-A c.10206+1G>T - IntronicSNV - 16/26 2
4-187530338-G-A c.10205C>T p.T3402M Missense 16/27 - 3
4-187530342-C-A c.10201G>T p.E3401* Nonsense 16/27 - 2
4-187530342-C-T c.10201G>A p.E3401K Missense 16/27 - 2
4-187530344-C-T c.10199G>A p.R3400Q Missense 16/27 - 2
4-187530345-G-A c.10198C>T p.R3400* Nonsense 16/27 - 14
4-187530346-G-A c.10197C>T p.D3399= Synonymous 16/27 - 1
4-187530346-G-T c.10197C>A p.D3399E Missense 16/27 - 3
4-187530347-T-C c.10196A>G p.D3399G Missense 16/27 - 1
4-187530348-C-A c.10195G>T p.D3399Y Missense 16/27 - 4
4-187530348-C-T c.10195G>A p.D3399N Missense 16/27 - 2
4-187530349-G-A c.10194C>T p.L3398= Synonymous 16/27 - 1
4-187530349-G-C c.10194C>G p.L3398= Synonymous 16/27 - 1
4-187530349-G-T c.10194C>A p.L3398= Synonymous 16/27 - 1
4-187530351-G-T c.10192C>A p.L3398I Missense 16/27 - 1
4-187530352-A-T c.10191T>A p.L3397= Synonymous 16/27 - 1
4-187530353-A-C c.10190T>G p.L3397R Missense 16/27 - 1
4-187530353-A-G c.10190T>C p.L3397P Missense 16/27 - 4
4-187530356-T-G c.10187A>C p.K3396T Missense 16/27 - 2
4-187530361-C-T c.10182G>A p.V3394= Synonymous 16/27 - 2
4-187530363-C-T c.10180G>A p.V3394M Missense 16/27 - 1
4-187530372-C-A c.10171G>T p.E3391* Nonsense 16/27 - 6
4-187530373-T-C c.10170A>G p.G3390= Synonymous 16/27 - 1
4-187530374-C-A c.10169G>T p.G3390V Missense 16/27 - 1
4-187530376-C-A c.10167G>T p.R3389S Missense 16/27 - 1
4-187530377-C-T c.10166G>A p.R3389K Missense 16/27 - 3
4-187530380-A-C c.10163T>G p.V3388G Missense 16/27 - 1
4-187530380-A-G c.10163T>C p.V3388A Missense 16/27 - 2
4-187530381-C-A c.10162G>T p.V3388F Missense 16/27 - 2
4-187530381-C-T c.10162G>A p.V3388I Missense 16/27 - 6
4-187530382-G-A c.10161C>T p.P3387= Synonymous 16/27 - 1
4-187530383-G-A c.10160C>T p.P3387L Missense 16/27 - 2
4-187530384-G-T c.10159C>A p.P3387T Missense 16/27 - 1
4-187530394-G-C c.10149C>G p.F3383L Missense 16/27 - 2
4-187530396-A-C c.10147T>G p.F3383V Missense 16/27 - 1
4-187530402-T-C c.10141A>G p.S3381G Missense 16/27 - 3
4-187530405-C-G c.10138G>C p.G3380R Missense 16/27 - 1
4-187530405-C-T c.10138G>A p.G3380R Missense 16/27 - 1
4-187530408-G-A c.10135C>T p.Q3379* Nonsense 16/27 - 1
4-187530413-C-T c.10130G>A p.G3377D Missense 16/27 - 1
4-187530417-C-A c.10126G>T p.D3376Y Missense 16/27 - 1
4-187530418-T-A c.10125A>T p.I3375= Synonymous 16/27 - 2
4-187530418-T-G c.10125A>C p.I3375= Synonymous 16/27 - 1
4-187530420-T-A c.10123A>T p.I3375L Missense 16/27 - 1
4-187530420-T-G c.10123A>C p.I3375L Missense 16/27 - 1
4-187530423-T-C c.10120A>G p.I3374V Missense 16/27 - 1
4-187530424-T-A c.10119A>T p.S3373= Synonymous 16/27 - 1
4-187530424-T-C c.10119A>G p.S3373= Synonymous 16/27 - 1
4-187530424-T-G c.10119A>C p.S3373= Synonymous 16/27 - 1
4-187530424-TGA-GTT c.10117_10119delinsAAC p.S3373N Missense 16/27 - 1
4-187530425-G-A c.10118C>T p.S3373L Missense 16/27 - 1
4-187530425-G-C c.10118C>G p.S3373* Nonsense 16/27 - 5
4-187530425-G-T c.10118C>A p.S3373* Nonsense 16/27 - 3
4-187530426-A-G c.10117T>C p.S3373P Missense 16/27 - 1
4-187530432-G-A c.10111C>T p.H3371Y Missense 16/27 - 5
4-187530433-G-A c.10110C>T p.I3370= Synonymous 16/27 - 1
4-187530436-G-C c.10107C>G p.H3369Q Missense 16/27 - 1
4-187530436-G-T c.10107C>A p.H3369Q Missense 16/27 - 1
4-187530437-T-G c.10106A>C p.H3369P Missense 16/27 - 1
4-187530443-T-C c.10100A>G p.N3367S Missense 16/27 - 1
4-187530443-T-G c.10100A>C p.N3367T Missense 16/27 - 1
4-187530446-G-T c.10097C>A p.S3366Y Missense 16/27 - 1
4-187530452-C-T c.10091G>A p.G3364E Missense 16/27 - 1
4-187530453-C-G c.10090G>C p.G3364R Missense 16/27 - 1
4-187530453-C-T c.10090G>A p.G3364R Missense 16/27 - 1
4-187530456-C-A c.10087G>T p.D3363Y Missense 16/27 - 1
4-187530456-C-T c.10087G>A p.D3363N Missense 16/27 - 6
4-187530457-GG-TA c.10085_10086delinsTA p.A3362V Missense 16/27 - 1
4-187530458-G-A c.10085C>T p.A3362V Missense 16/27 - 5
4-187530459-C-T c.10084G>A p.A3362T Missense 16/27 - 2
4-187530461-T-C c.10082A>G p.D3361G Missense 16/27 - 1
4-187530465-C-T c.10078G>A p.D3360N Missense 16/27 - 4
4-187530466-G-A c.10077C>T p.A3359= Synonymous 16/27 - 1
4-187530466-G-C c.10077C>G p.A3359= Synonymous 16/27 - 1
4-187530466-G-T c.10077C>A p.A3359= Synonymous 16/27 - 1
4-187530467-G-A c.10076C>T p.A3359V Missense 16/27 - 1
4-187530468-C-A c.10075G>T p.A3359S Missense 16/27 - 1
4-187530468-C-CA c.10074_10075insT p.A3359Cfs*3 Frameshift 16/27 - 1
4-187530469-C-A c.10074G>T p.M3358I Missense 16/27 - 1
4-187530469-C-G c.10074G>C p.M3358I Missense 16/27 - 1
4-187530469-C-T c.10074G>A p.M3358I Missense 16/27 - 2
4-187530696-G-A c.10069-222C>T - IntronicSNV - 15/26 1
4-187530696-G-C c.10069-222C>G - IntronicSNV - 15/26 1
4-187530737-ATTTT-A c.10068+214_10068+217del - IntronicDeletion - 15/26 1
4-187530938-G-A c.10068+17C>T - IntronicSNV - 15/26 1
4-187530955-C-A c.10068G>T p.T3356= Synonymous 15/27 - 1
4-187530955-C-G c.10068G>C p.T3356= Synonymous 15/27 - 1
4-187530955-C-T c.10068G>A p.T3356= Synonymous 15/27 - 1
4-187530956-G-A c.10067C>T p.T3356M Missense 15/27 - 7
4-187530965-G-A c.10058C>T p.S3353F Missense 15/27 - 4
4-187530970-C-T c.10053G>A p.E3351= Synonymous 15/27 - 1
4-187530972-C-G c.10051G>C p.E3351Q Missense 15/27 - 1
4-187530973-A-C c.10050T>G p.L3350= Synonymous 15/27 - 1
4-187530973-A-G c.10050T>C p.L3350= Synonymous 15/27 - 2
4-187530973-A-T c.10050T>A p.L3350= Synonymous 15/27 - 1
4-187530975-G-A c.10048C>T p.L3350F Missense 15/27 - 1
4-187530978-C-T c.10045G>A p.V3349I Missense 15/27 - 1
4-187530979-G-A c.10044C>T p.A3348= Synonymous 15/27 - 2
4-187530979-G-C c.10044C>G p.A3348= Synonymous 15/27 - 1
4-187530979-G-T c.10044C>A p.A3348= Synonymous 15/27 - 2
4-187530980-G-A c.10043C>T p.A3348V Missense 15/27 - 1
4-187530984-C-T c.10039G>A p.D3347N Missense 15/27 - 1
4-187530993-T-A c.10030A>T p.I3344F Missense 15/27 - 1
4-187530996-C-T c.10027G>A p.V3343I Missense 15/27 - 1
4-187530998-G-C c.10025C>G p.T3342R Missense 15/27 - 1
4-187530998-G-T c.10025C>A p.T3342K Missense 15/27 - 3
4-187531001-G-T c.10022C>A p.T3341K Missense 15/27 - 2
4-187531003-G-T c.10020C>A p.Y3340* Nonsense 15/27 - 1
4-187531004-T-C c.10019A>G p.Y3340C Missense 15/27 - 1
4-187531016-C-G c.10007G>C p.S3336T Missense 15/27 - 1
4-187531016-C-T c.10007G>A p.S3336N Missense 15/27 - 1
4-187531018-G-A c.10005C>T p.F3335= Synonymous 15/27 - 1
4-187531018-G-C c.10005C>G p.F3335L Missense 15/27 - 1
4-187531018-G-T c.10005C>A p.F3335L Missense 15/27 - 1
4-187531020-A-C c.10003T>G p.F3335V Missense 15/27 - 1
4-187531020-A-G c.10003T>C p.F3335L Missense 15/27 - 1
4-187531021-C-A c.10002G>T p.V3334= Synonymous 15/27 - 1
4-187531021-C-G c.10002G>C p.V3334= Synonymous 15/27 - 1
4-187531021-C-T c.10002G>A p.V3334= Synonymous 15/27 - 1
4-187531022-A-G c.10001T>C p.V3334A Missense 15/27 - 29
4-187531024-A-C c.9999T>G p.P3333= Synonymous 15/27 - 1
4-187531024-A-G c.9999T>C p.P3333= Synonymous 15/27 - 1
4-187531024-A-T c.9999T>A p.P3333= Synonymous 15/27 - 1
4-187531024-CAG-C c.9998_9999del p.P3333Rfs*13 Frameshift 15/27 - 2
4-187531024-CAGG-C c.9997_9999del p.P3333del InFrameDeletion 15/27 - 1
4-187531028-G-A c.9995C>T p.T3332I Missense 15/27 - 2
4-187531028-G-GT c.9994dup p.T3332Nfs*15 Frameshift 15/27 - 2
4-187531029-T-C c.9994A>G p.T3332A Missense 15/27 - 2
4-187531031-T-A c.9992A>T p.N3331I Missense 15/27 - 1
4-187531032-T-A c.9991A>T p.N3331Y Missense 15/27 - 1
4-187531035-C-T c.9988G>A p.D3330N Missense 15/27 - 6
4-187531037-T-C c.9986A>G p.N3329S Missense 15/27 - 1
4-187531036-GTTGA-G c.9983_9986del p.I3328Tfs*47 Frameshift 15/27 - 1
4-187531038-T-C c.9985A>G p.N3329D Missense 15/27 - 1
4-187531039-G-C c.9984C>G p.I3328M Missense 15/27 - 2
4-187531040-A-G c.9983T>C p.I3328T Missense 15/27 - 2
4-187531041-T-C c.9982A>G p.I3328V Missense 15/27 - 1
4-187531044-C-A c.9979G>T p.D3327Y Missense 15/27 - 1
4-187531044-C-T c.9979G>A p.D3327N Missense 15/27 - 1
4-187531045-T-A c.9978A>T p.T3326= Synonymous 15/27 - 1
4-187531045-T-C c.9978A>G p.T3326= Synonymous 15/27 - 1
4-187531045-T-G c.9978A>C p.T3326= Synonymous 15/27 - 1
4-187531048-TAC-CAT c.9973_9975delinsATG p.V3325M Missense 15/27 - 1
4-187531050-C-G c.9973G>C p.V3325L Missense 15/27 - 1
4-187531052-T-A c.9971A>T p.N3324I Missense 15/27 - 1
4-187531053-TA-T c.9969del p.N3324Mfs*2 Frameshift 15/27 - 1
4-187531055-A-G c.9968T>C p.V3323A Missense 15/27 - 1
4-187531056-C-T c.9967G>A p.V3323I Missense 15/27 - 3
4-187531057-G-A c.9966C>T p.N3322= Synonymous 15/27 - 1
4-187531065-T-A c.9958A>T p.T3320S Missense 15/27 - 1
4-187531066-G-A c.9957C>T p.A3319= Synonymous 15/27 - 4
4-187531071-C-T c.9952G>A p.V3318I Missense 15/27 - 1
4-187531074-C-T c.9949G>A p.D3317N Missense 15/27 - 4
4-187531075-G-A c.9948C>T p.S3316= Synonymous 15/27 - 2
4-187531078-C-A c.9945G>T p.L3315= Synonymous 15/27 - 1
4-187531078-C-G c.9945G>C p.L3315= Synonymous 15/27 - 1
4-187531078-C-T c.9945G>A p.L3315= Synonymous 15/27 - 1
4-187531080-G-A c.9943C>T p.L3315= Synonymous 15/27 - 1
4-187531082-G-A c.9941C>T p.S3314L Missense 15/27 - 1
4-187531082-G-T c.9941C>A p.S3314* Nonsense 15/27 - 1
4-187531087-C-A c.9936G>T p.T3312= Synonymous 15/27 - 3
4-187531087-C-G c.9936G>C p.T3312= Synonymous 15/27 - 1
4-187531087-C-T c.9936G>A p.T3312= Synonymous 15/27 - 1
4-187531091-C-G c.9932G>C p.G3311A Missense 15/27 - 1
4-187531091-C-T c.9932G>A p.G3311D Missense 15/27 - 1
4-187531092-C-A c.9931G>T p.G3311C Missense 15/27 - 1
4-187531094-C-T c.9929G>A p.G3310E Missense 15/27 - 1
4-187531095-C-A c.9928G>T p.G3310* Nonsense 15/27 - 2
4-187531097-T-A c.9926A>T p.D3309V Missense 15/27 - 1
4-187531098-C-A c.9925G>T p.D3309Y Missense 15/27 - 1
4-187531098-C-T c.9925G>A p.D3309N Missense 15/27 - 4
4-187531103-G-A c.9920C>T p.A3307V Missense 15/27 - 3
4-187531107-C-T c.9916G>A p.E3306K Missense 15/27 - 2
4-187531110-C-G c.9913G>C p.V3305L Missense 15/27 - 1
4-187531112-G-T c.9911C>A p.T3304K Missense 15/27 - 1
4-187531115-A-G c.9908T>C p.L3303P Missense 15/27 - 1
4-187531116-G-C c.9907C>G p.L3303V Missense 15/27 - 3
4-187531115-AG-A c.9907del p.L3303* Frameshift 15/27 - 1
4-187531117-G-C c.9906C>G p.Y3302* Nonsense 15/27 - 1
4-187531117-G-T c.9906C>A p.Y3302* Nonsense 15/27 - 1
4-187531117-G-GT c.9905dup p.Y3302* Nonsense 15/27 - 1
4-187531118-T-A c.9905A>T p.Y3302F Missense 15/27 - 1
4-187531118-T-C c.9905A>G p.Y3302C Missense 15/27 - 1
4-187531122-A-G c.9901T>C p.Y3301H Missense 15/27 - 2
4-187531125-C-A c.9898G>T p.E3300* Nonsense 15/27 - 7
4-187531125-C-T c.9898G>A p.E3300K Missense 15/27 - 1
4-187531128-G-A c.9895C>T p.H3299Y Missense 15/27 - 1
4-187531133-C-T c.9890G>A p.S3297N Missense 15/27 - 4
4-187531133-CT-AG c.9889_9890inv p.S3297L Missense 15/27 - 1
4-187531135-C-G c.9888G>C p.E3296D Missense 15/27 - 1
4-187531137-C-G c.9886G>C p.E3296Q Missense 15/27 - 1
4-187531137-C-T c.9886G>A p.E3296K Missense 15/27 - 3
4-187531141-A-C c.9882T>G p.D3294E Missense 15/27 - 1
4-187531141-A-T c.9882T>A p.D3294E Missense 15/27 - 1
4-187531146-G-A c.9877C>T p.L3293= Synonymous 15/27 - 2
4-187531149-T-C c.9874A>G p.N3292D Missense 15/27 - 1
4-187531156-G-A c.9867C>T p.I3289= Synonymous 15/27 - 2
4-187531156-G-T c.9867C>A p.I3289= Synonymous 15/27 - 1
4-187531158-T-C c.9865A>G p.I3289V Missense 15/27 - 1
4-187531164-C-T c.9859G>A p.V3287I Missense 15/27 - 3
4-187531166-G-A c.9857C>T p.A3286V Missense 15/27 - 2
4-187531166-G-T c.9857C>A p.A3286D Missense 15/27 - 1
4-187531167-C-G c.9856G>C p.A3286P Missense 15/27 - 4
4-187531169-C-A c.9854G>T p.G3285V Missense 15/27 - 2
4-187531225-C-A c.9854-56G>T - IntronicSNV - 14/26 1
4-187531229-G-T c.9854-60C>A - IntronicSNV - 14/26 1
4-187532473-C-G c.9853+67G>C - IntronicSNV - 14/26 1
4-187532540-C-T c.9853G>A p.G3285R Missense 14/27 - 1
4-187532543-T-C c.9850A>G p.T3284A Missense 14/27 - 1
4-187532545-T-A c.9848A>T p.K3283I Missense 14/27 - 2
4-187532546-T-A c.9847A>T p.K3283* Nonsense 14/27 - 5
4-187532548-G-C c.9845C>G p.S3282C Missense 14/27 - 1
4-187532552-C-A c.9841G>T p.D3281Y Missense 14/27 - 2
4-187532552-C-T c.9841G>A p.D3281N Missense 14/27 - 2
4-187532555-T-A c.9838A>T p.I3280L Missense 14/27 - 2
4-187532557-C-A c.9836G>T p.S3279I Missense 14/27 - 3
4-187532562-T-A c.9831A>T p.K3277N Missense 14/27 - 3
4-187532562-T-G c.9831A>C p.K3277N Missense 14/27 - 1
4-187532563-T-G c.9830A>C p.K3277T Missense 14/27 - 3
4-187532561-AT-A c.9831del p.K3277Nfs*4 Frameshift 14/27 - 1
4-187532564-TC-T c.9828del p.K3277Nfs*4 Frameshift 14/27 - 2
4-187532569-T-C c.9824A>G p.H3275R Missense 14/27 - 4
4-187532570-G-T c.9823C>A p.H3275N Missense 14/27 - 2
4-187532571-T-A c.9822A>T p.E3274D Missense 14/27 - 1
4-187532571-T-G c.9822A>C p.E3274D Missense 14/27 - 1
4-187532578-C-G c.9815G>C p.G3272A Missense 14/27 - 2
4-187532585-T-C c.9808A>G p.I3270V Missense 14/27 - 2
4-187532590-G-C c.9803C>G p.S3268* Nonsense 14/27 - 8
4-187532590-G-T c.9803C>A p.S3268* Nonsense 14/27 - 6
4-187532603-C-T c.9790G>A p.E3264K Missense 14/27 - 3
4-187532611-G-C c.9782C>G p.A3261G Missense 14/27 - 1
4-187532615-C-T c.9778G>A p.E3260K Missense 14/27 - 1
4-187532616-A-T c.9777T>A p.I3259= Synonymous 14/27 - 1
4-187532621-C-CA c.9771_9772insT p.D3258* Nonsense 14/27 - 1
4-187532623-C-A c.9770G>T p.R3257L Missense 14/27 - 1
4-187532624-G-A c.9769C>T p.R3257W Missense 14/27 - 3
4-187532626-C-T c.9767G>A p.S3256N Missense 14/27 - 1
4-187532630-C-A c.9763G>T p.A3255S Missense 14/27 - 2
4-187532630-C-T c.9763G>A p.A3255T Missense 14/27 - 1
4-187532635-T-C c.9758A>G p.Y3253C Missense 14/27 - 2
4-187532637-C-A c.9756G>T p.V3252= Synonymous 14/27 - 1
4-187532637-C-G c.9756G>C p.V3252= Synonymous 14/27 - 1
4-187532637-C-T c.9756G>A p.V3252= Synonymous 14/27 - 1
4-187532639-C-T c.9754G>A p.V3252M Missense 14/27 - 1
4-187532641-T-G c.9752A>C p.Q3251P Missense 14/27 - 4
4-187532642-G-A c.9751C>T p.Q3251* Nonsense 14/27 - 1
4-187532642-G-C c.9751C>G p.Q3251E Missense 14/27 - 1
4-187532645-G-T c.9748C>A p.L3250I Missense 14/27 - 1
4-187532646-A-C c.9747T>G p.V3249= Synonymous 14/27 - 1
4-187532646-A-G c.9747T>C p.V3249= Synonymous 14/27 - 1
4-187532646-A-T c.9747T>A p.V3249= Synonymous 14/27 - 1
4-187532650-T-A c.9743A>T p.E3248V Missense 14/27 - 1
4-187532656-C-A c.9737G>T p.G3246V Missense 14/27 - 1
4-187532660-AC-A c.9733del p.V3245Lfs*25 Frameshift 14/27 - 1
4-187532662-A-T c.9731T>A p.L3244H Missense 14/27 - 2
4-187532663-GA-G c.9729del p.V3245Lfs*25 Frameshift 14/27 - 2
4-187532666-T-C c.9727A>G p.I3243V Missense 14/27 - 1
4-187532667-G-C c.9726C>G p.D3242E Missense 14/27 - 4
4-187532667-G-T c.9726C>A p.D3242E Missense 14/27 - 2
4-187532668-T-C c.9725A>G p.D3242G Missense 14/27 - 2
4-187532670-C-T c.9723G>A p.E3241= Synonymous 14/27 - 2
4-187532671-T-A c.9722A>T p.E3241V Missense 14/27 - 1
4-187532672-C-G c.9721G>C p.E3241Q Missense 14/27 - 3
4-187532678-C-T c.9715G>A p.V3239M Missense 14/27 - 3
4-187532679-G-A c.9714C>T p.T3238= Synonymous 14/27 - 4
4-187532680-G-A c.9713C>T p.T3238I Missense 14/27 - 1
4-187532683-G-T c.9710C>A p.A3237D Missense 14/27 - 1
4-187532686-C-A c.9707G>T p.G3236V Missense 14/27 - 1
4-187532686-C-T c.9707G>A p.G3236D Missense 14/27 - 1
4-187532689-T-C c.9704A>G p.Y3235C Missense 14/27 - 1
4-187532691-ATT-A c.9701_9702del p.E3234Vfs*7 Frameshift 14/27 - 1
4-187532693-C-A c.9700G>T p.E3234* Nonsense 14/27 - 2
4-187532693-C-T c.9700G>A p.E3234K Missense 14/27 - 1
4-187532694-A-C c.9699T>G p.R3233= Synonymous 14/27 - 1
4-187532694-A-G c.9699T>C p.R3233= Synonymous 14/27 - 1
4-187532694-A-T c.9699T>A p.R3233= Synonymous 14/27 - 1
4-187532695-C-G c.9698G>C p.R3233P Missense 14/27 - 2
4-187532695-C-T c.9698G>A p.R3233H Missense 14/27 - 3
4-187532696-G-A c.9697C>T p.R3233C Missense 14/27 - 4
4-187532700-C-T c.9693G>A p.E3231= Synonymous 14/27 - 2
4-187532702-C-A c.9691G>T p.E3231* Nonsense 14/27 - 3
4-187532702-C-T c.9691G>A p.E3231K Missense 14/27 - 1
4-187532701-TCAAA-T c.9688_9691del p.F3230Sfs*39 Frameshift 14/27 - 2
4-187532704-A-G c.9689T>C p.F3230S Missense 14/27 - 1
4-187532707-A-G c.9686T>C p.V3229A Missense 14/27 - 2
4-187532708-C-A c.9685G>T p.V3229L Missense 14/27 - 1
4-187532708-C-CG c.9684_9685insC p.V3229Rfs*3 Frameshift 14/27 - 1
4-187532708-C-G c.9685G>C p.V3229L Missense 14/27 - 1
4-187532708-C-CA c.9684dup p.V3229Cfs*3 Frameshift 14/27 - 1
4-187532713-G-A c.9680C>T p.P3227L Missense 14/27 - 1
4-187532709-A-AG c.9683dup p.V3229Cfs*3 Frameshift 14/27 - 2
4-187532709-AG-A c.9683del p.P3228Lfs*42 Frameshift 14/27 - 6
4-187532715-G-A c.9678C>T p.N3226= Synonymous 14/27 - 1
4-187532715-G-GTTC c.9677_9678insGAA p.D3225_N3226insK InFrameInsertion 14/27 - 1
4-187532720-C-T c.9673G>A p.D3225N Missense 14/27 - 1
4-187532731-A-C c.9662T>G p.L3221R Missense 14/27 - 1
4-187532732-G-C c.9661C>G p.L3221V Missense 14/27 - 1
4-187532732-G-T c.9661C>A p.L3221I Missense 14/27 - 1
4-187532735-C-T c.9658G>A p.V3220I Missense 14/27 - 1
4-187532740-A-C c.9653T>G p.V3218G Missense 14/27 - 1
4-187532741-C-T c.9652G>A p.V3218I Missense 14/27 - 1
4-187532745-C-A c.9648G>T p.V3216= Synonymous 14/27 - 1
4-187532744-TCACAGTGC-T c.9641_9648del p.G3214Dfs*6 Frameshift 14/27 - 1
4-187532751-GCC-CCA c.9640_9642delinsTGG p.G3214W Missense 14/27 - 1
4-187532752-C-A c.9641G>T p.G3214V Missense 14/27 - 1
4-187532752-C-G c.9641G>C p.G3214A Missense 14/27 - 1
4-187532752-C-T c.9641G>A p.G3214D Missense 14/27 - 1
4-187532752-GCCAGT-G c.9637_9641del p.T3213Hfs*8 Frameshift 14/27 - 1
4-187532758-G-A c.9635C>T p.A3212V Missense 14/27 - 1
4-187532760-A-C c.9633T>G p.T3211= Synonymous 14/27 - 1
4-187532763-C-G c.9630G>C p.L3210= Synonymous 14/27 - 1
4-187532767-C-T c.9626G>A p.R3209K Missense 14/27 - 1
4-187532770-C-T c.9623G>A p.R3208K Missense 14/27 - 1
4-187532774-G-A c.9619C>T p.P3207S Missense 14/27 - 1
4-187532774-G-C c.9619C>G p.P3207A Missense 14/27 - 8
4-187532778-G-A c.9615C>T p.G3205= Synonymous 14/27 - 1
4-187532783-G-A c.9610C>T p.Q3204* Nonsense 14/27 - 1
4-187532785-T-C c.9608A>G p.D3203G Missense 14/27 - 1
4-187532786-C-A c.9607G>T p.D3203Y Missense 14/27 - 1
4-187532786-C-T c.9607G>A p.D3203N Missense 14/27 - 1
4-187532792-C-T c.9601G>A p.A3201T Missense 14/27 - 1
4-187532796-C-T c.9597G>A p.L3199= Synonymous 14/27 - 1
4-187532797-A-T c.9596T>A p.L3199* Nonsense 14/27 - 1
4-187532796-C-CA c.9596dup p.L3199Ffs*24 Frameshift 14/27 - 2
4-187532800-G-A c.9593C>T p.S3198F Missense 14/27 - 1
4-187532801-A-T c.9592T>A p.S3198T Missense 14/27 - 1
4-187532802-AGAGGG-A c.9587_9591del p.T3196Ifs*25 Frameshift 14/27 - 1
4-187532803-A-T c.9590T>A p.L3197H Missense 14/27 - 1
4-187532804-G-T c.9589C>A p.L3197I Missense 14/27 - 1
4-187532805-G-A c.9588C>T p.T3196= Synonymous 14/27 - 2
4-187532806-G-A c.9587C>T p.T3196I Missense 14/27 - 1
4-187532808-G-GT c.9584dup p.Y3195* Nonsense 14/27 - 1
4-187532810-A-T c.9583T>A p.Y3195N Missense 14/27 - 5
4-187532812-A-G c.9581T>C p.V3194A Missense 14/27 - 1
4-187532813-ACTGCC-A c.9576_9580del p.Q3192Hfs*29 Frameshift 14/27 - 1
4-187532815-G-T c.9578C>A p.A3193E Missense 14/27 - 1
4-187532816-C-A c.9577G>T p.A3193S Missense 14/27 - 1
4-187532819-G-A c.9574C>T p.Q3192* Nonsense 14/27 - 4
4-187532825-C-A c.9568G>T p.E3190* Nonsense 14/27 - 2
4-187532826-T-A c.9567A>T p.R3189S Missense 14/27 - 1
4-187532826-T-G c.9567A>C p.R3189S Missense 14/27 - 1
4-187532830-T-A c.9563A>T p.D3188V Missense 14/27 - 1
4-187532836-G-A c.9557C>T p.P3186L Missense 14/27 - 2
4-187532836-G-T c.9557C>A p.P3186H Missense 14/27 - 4
4-187532853-A-C c.9540T>G p.I3180M Missense 14/27 - 1
4-187532854-A-C c.9539T>G p.I3180S Missense 14/27 - 2
4-187532857-C-A c.9536G>T p.G3179V Missense 14/27 - 1
4-187532858-C-A c.9535G>T p.G3179* Nonsense 14/27 - 4
4-187532860-G-C c.9533C>G p.S3178C Missense 14/27 - 2
4-187532863-A-T c.9530T>A p.L3177* Nonsense 14/27 - 2
4-187532867-C-A c.9526G>T p.E3176* Nonsense 14/27 - 1
4-187532867-C-T c.9526G>A p.E3176K Missense 14/27 - 8
4-187532867-TC-T c.9526del p.E3176Nfs*8 Frameshift 14/27 - 1
4-187532870-T-C c.9523A>G p.N3175D Missense 14/27 - 1
4-187532874-G-A c.9519C>T p.S3173= Synonymous 14/27 - 1
4-187532875-G-A c.9518C>T p.S3173F Missense 14/27 - 1
4-187532877-G-A c.9516C>T p.F3172= Synonymous 14/27 - 1
4-187532877-G-C c.9516C>G p.F3172L Missense 14/27 - 1
4-187532877-G-T c.9516C>A p.F3172L Missense 14/27 - 1
4-187532879-A-G c.9514T>C p.F3172L Missense 14/27 - 2
4-187532881-TGCCCATCA-T c.9504_9511del p.D3169Vfs*4 Frameshift 14/27 - 1
4-187532884-C-A c.9509G>T p.G3170V Missense 14/27 - 1
4-187532891-C-T c.9502G>A p.A3168T Missense 14/27 - 1
4-187532892-A-T c.9501T>A p.S3167= Synonymous 14/27 - 1
4-187532893-G-A c.9500C>T p.S3167F Missense 14/27 - 1
4-187532891-CAG-C c.9500_9501del p.S3167Cfs*2 Frameshift 14/27 - 1
4-187532897-C-T c.9496G>A p.D3166N Missense 14/27 - 1
4-187532901-C-T c.9492G>A p.L3164= Synonymous 14/27 - 1
4-187532908-T-C c.9485A>G p.Y3162C Missense 14/27 - 1
4-187532919-CCG-GCT c.9472_9474delinsAGC p.R3158S Missense 14/27 - 3
4-187532919-C-A c.9474G>T p.R3158= Synonymous 14/27 - 1
4-187532919-C-G c.9474G>C p.R3158= Synonymous 14/27 - 1
4-187532919-C-T c.9474G>A p.R3158= Synonymous 14/27 - 1
4-187532921-G-A c.9472C>T p.R3158W Missense 14/27 - 3
4-187532921-G-T c.9472C>A p.R3158= Synonymous 14/27 - 1
4-187532927-A-C c.9466T>G p.L3156V Missense 14/27 - 1
4-187532929-C-A c.9464G>T p.G3155V Missense 14/27 - 1
4-187534228-G-A c.9463+35C>T - IntronicSNV - 13/26 1
4-187534254-G-A c.9463+9C>T - IntronicSNV - 13/26 1
4-187534262-C-T c.9463+1G>A - IntronicSNV - 13/26 1
4-187534263-C-A c.9463G>T p.G3155* Nonsense 13/27 - 1
4-187534263-C-G c.9463G>C p.G3155R Missense 13/27 - 4
4-187534263-C-T c.9463G>A p.G3155R Missense 13/27 - 7
4-187534266-C-T c.9460G>A p.A3154T Missense 13/27 - 4
4-187534273-A-C c.9453T>G p.D3151E Missense 13/27 - 1
4-187534273-A-T c.9453T>A p.D3151E Missense 13/27 - 1
4-187534277-G-A c.9449C>T p.T3150I Missense 13/27 - 1
4-187534278-T-C c.9448A>G p.T3150A Missense 13/27 - 1
4-187534277-GTGGCC-G c.9444_9448del p.Q3148Hfs*17 Frameshift 13/27 - 1
4-187534282-C-A c.9444G>T p.Q3148H Missense 13/27 - 1
4-187534282-C-G c.9444G>C p.Q3148H Missense 13/27 - 1
4-187534283-T-A c.9443A>T p.Q3148L Missense 13/27 - 3
4-187534286-A-C c.9440T>G p.V3147G Missense 13/27 - 7
4-187534289-C-T c.9437G>A p.R3146K Missense 13/27 - 2
4-187534293-T-C c.9433A>G p.T3145A Missense 13/27 - 1
4-187534299-G-A c.9427C>T p.L3143= Synonymous 13/27 - 1
4-187534300-C-A c.9426G>T p.T3142= Synonymous 13/27 - 1
4-187534300-C-G c.9426G>C p.T3142= Synonymous 13/27 - 1
4-187534300-C-T c.9426G>A p.T3142= Synonymous 13/27 - 1
4-187534301-G-A c.9425C>T p.T3142M Missense 13/27 - 6
4-187534304-C-T c.9422G>A p.G3141E Missense 13/27 - 1
4-187534309-C-G c.9417G>C p.E3139D Missense 13/27 - 1
4-187534310-T-C c.9416A>G p.E3139G Missense 13/27 - 1
4-187534312-T-A c.9414A>T p.T3138= Synonymous 13/27 - 2
4-187534320-C-A c.9406G>T p.E3136* Nonsense 13/27 - 2
4-187534320-C-G c.9406G>C p.E3136Q Missense 13/27 - 4
4-187534320-C-T c.9406G>A p.E3136K Missense 13/27 - 1
4-187534324-C-A c.9402G>T p.V3134= Synonymous 13/27 - 2
4-187534326-C-A c.9400G>T p.V3134L Missense 13/27 - 3
4-187534326-C-G c.9400G>C p.V3134L Missense 13/27 - 3
4-187534326-C-T c.9400G>A p.V3134M Missense 13/27 - 2
4-187534327-G-A c.9399C>T p.T3133= Synonymous 13/27 - 1
4-187534328-G-A c.9398C>T p.T3133I Missense 13/27 - 3
4-187534330-G-A c.9396C>T p.I3132= Synonymous 13/27 - 3
4-187534330-G-T c.9396C>A p.I3132= Synonymous 13/27 - 2
4-187534334-G-A c.9392C>T p.A3131V Missense 13/27 - 1
4-187534334-G-C c.9392C>G p.A3131G Missense 13/27 - 1
4-187534335-C-G c.9391G>C p.A3131P Missense 13/27 - 1
4-187534335-C-T c.9391G>A p.A3131T Missense 13/27 - 2
4-187534340-G-A c.9386C>T p.P3129L Missense 13/27 - 2
4-187534340-G-T c.9386C>A p.P3129H Missense 13/27 - 1
4-187534341-G-A c.9385C>T p.P3129S Missense 13/27 - 3
4-187534341-G-C c.9385C>G p.P3129A Missense 13/27 - 1
4-187534344-C-T c.9382G>A p.D3128N Missense 13/27 - 1
4-187534347-C-T c.9379G>A p.A3127T Missense 13/27 - 1
4-187534351-G-A c.9375C>T p.F3125= Synonymous 13/27 - 1
4-187534356-C-A c.9370G>T p.E3124* Nonsense 13/27 - 1
4-187534356-C-T c.9370G>A p.E3124K Missense 13/27 - 7
4-187534358-G-C c.9368C>G p.P3123R Missense 13/27 - 1
4-187534356-C-CG c.9369dup p.E3124Rfs*13 Frameshift 13/27 - 1
4-187534361-G-GC c.9364dup p.A3122Gfs*15 Frameshift 13/27 - 1
4-187534362-C-T c.9364G>A p.A3122T Missense 13/27 - 5
4-187534363-G-A c.9363C>T p.N3121= Synonymous 13/27 - 21
4-187534363-G-C c.9363C>G p.N3121K Missense 13/27 - 2
4-187534363-G-T c.9363C>A p.N3121K Missense 13/27 - 2
4-187534368-C-A c.9358G>T p.D3120Y Missense 13/27 - 1
4-187534368-C-G c.9358G>C p.D3120H Missense 13/27 - 1
4-187534368-C-T c.9358G>A p.D3120N Missense 13/27 - 6
4-187534369-G-C c.9357C>G p.N3119K Missense 13/27 - 1
4-187534374-C-T c.9352G>A p.V3118M Missense 13/27 - 2
4-187534375-A-G c.9351T>C p.D3117= Synonymous 13/27 - 21
4-187534377-C-T c.9349G>A p.D3117N Missense 13/27 - 3
4-187534377-TC-T c.9349del p.D3117Mfs*2 Frameshift 13/27 - 1
4-187534377-CT-C c.9348del p.D3117Mfs*2 Frameshift 13/27 - 1
4-187534380-C-T c.9346G>A p.E3116K Missense 13/27 - 2
4-187534384-C-A c.9342G>T p.T3114= Synonymous 13/27 - 1
4-187534384-C-G c.9342G>C p.T3114= Synonymous 13/27 - 1
4-187534384-C-T c.9342G>A p.T3114= Synonymous 13/27 - 2
4-187534385-G-A c.9341C>T p.T3114M Missense 13/27 - 3
4-187534386-T-C c.9340A>G p.T3114A Missense 13/27 - 1
4-187534390-C-T c.9336G>A p.V3112= Synonymous 13/27 - 1
4-187534392-C-A c.9334G>T p.V3112L Missense 13/27 - 2
4-187534395-T-C c.9331A>G p.I3111V Missense 13/27 - 1
4-187534396-A-C c.9330T>G p.S3110R Missense 13/27 - 1
4-187534396-A-T c.9330T>A p.S3110R Missense 13/27 - 1
4-187534398-T-G c.9328A>C p.S3110R Missense 13/27 - 1
4-187534398-T-C c.9328A>G p.S3110G Missense 13/27 - 1
4-187534400-G-A c.9326C>T p.A3109V Missense 13/27 - 4
4-187534401-C-T c.9325G>A p.A3109T Missense 13/27 - 1
4-187534404-G-A c.9322C>T p.Q3108* Nonsense 13/27 - 1
4-187534412-C-A c.9314G>T p.R3105I Missense 13/27 - 1
4-187534413-T-A c.9313A>T p.R3105* Nonsense 13/27 - 1
4-187534415-C-G c.9311G>C p.G3104A Missense 13/27 - 1
4-187534415-C-T c.9311G>A p.G3104E Missense 13/27 - 1
4-187534419-C-A c.9307G>T p.G3103* Nonsense 13/27 - 2
4-187534421-C-G c.9305G>C p.G3102A Missense 13/27 - 3
4-187534422-C-A c.9304G>T p.G3102* Nonsense 13/27 - 1
4-187534425-C-A c.9301G>T p.D3101Y Missense 13/27 - 1
4-187534431-C-G c.9295G>C p.A3099P Missense 13/27 - 1
4-187534433-C-A c.9293G>T p.R3098M Missense 13/27 - 4
4-187534433-C-G c.9293G>C p.R3098T Missense 13/27 - 2
4-187534433-C-CT c.9292dup p.R3098Kfs*24 Frameshift 13/27 - 1
4-187534434-T-A c.9292A>T p.R3098W Missense 13/27 - 1
4-187534434-T-C c.9292A>G p.R3098G Missense 13/27 - 2
4-187534437-C-A c.9289G>T p.V3097F Missense 13/27 - 1
4-187534437-C-G c.9289G>C p.V3097L Missense 13/27 - 1
4-187534437-C-T c.9289G>A p.V3097I Missense 13/27 - 2
4-187534438-G-A c.9288C>T p.L3096= Synonymous 13/27 - 1
4-187534440-G-T c.9286C>A p.L3096I Missense 13/27 - 1
4-187534443-G-A c.9283C>T p.L3095F Missense 13/27 - 1
4-187534443-G-C c.9283C>G p.L3095V Missense 13/27 - 1
4-187534446-G-A c.9280C>T p.H3094Y Missense 13/27 - 6
4-187534452-C-G c.9274G>C p.V3092L Missense 13/27 - 2
4-187534455-C-T c.9271G>A p.A3091T Missense 13/27 - 1
4-187534456-T-A c.9270A>T p.Q3090H Missense 13/27 - 1
4-187534461-C-A c.9265G>T p.E3089* Nonsense 13/27 - 1
4-187534461-C-T c.9265G>A p.E3089K Missense 13/27 - 2
4-187534462-C-A c.9264G>T p.E3088D Missense 13/27 - 3
4-187534462-C-G c.9264G>C p.E3088D Missense 13/27 - 3
4-187534464-C-A c.9262G>T p.E3088* Nonsense 13/27 - 1
4-187534464-C-T c.9262G>A p.E3088K Missense 13/27 - 1
4-187534465-A-C c.9261T>G p.R3087= Synonymous 13/27 - 1
4-187534465-A-G c.9261T>C p.R3087= Synonymous 13/27 - 1
4-187534465-A-T c.9261T>A p.R3087= Synonymous 13/27 - 1
4-187534466-C-CG c.9259dup p.R3087Pfs*2 Frameshift 13/27 - 2
4-187534467-CG-C c.9259del p.R3087Vfs*29 Frameshift 13/27 - 1
4-187534467-G-A c.9259C>T p.R3087C Missense 13/27 - 5
4-187534467-G-C c.9259C>G p.R3087G Missense 13/27 - 5
4-187534470-C-G c.9256G>C p.D3086H Missense 13/27 - 1
4-187534472-A-G c.9254T>C p.L3085P Missense 13/27 - 1
4-187534473-G-A c.9253C>T p.L3085F Missense 13/27 - 2
4-187534477-G-A c.9249C>T p.T3083= Synonymous 13/27 - 5
4-187534477-GG-CA c.9248_9249delinsTG p.T3083M Missense 13/27 - 1
4-187534472-A-AG c.9253dup p.L3085Pfs*2 Frameshift 13/27 - 1
4-187534478-G-A c.9248C>T p.T3083I Missense 13/27 - 1
4-187534478-GT-G c.9247del p.T3083Pfs*33 Frameshift 13/27 - 1
4-187534484-G-C c.9242C>G p.T3081R Missense 13/27 - 1
4-187534488-T-A c.9238A>T p.K3080* Nonsense 13/27 - 1
4-187534542-T-A c.9230-46A>T - IntronicSNV - 12/26 9
4-187534542-T-C c.9230-46A>G - IntronicSNV - 12/26 9
4-187534689-G-T c.9230-193C>A - IntronicSNV - 12/26 3
4-187535169-T-C c.9229+176A>G - IntronicSNV - 12/26 1
4-187535178-C-T c.9229+167G>A - IntronicSNV - 12/26 1
4-187535219-C-T c.9229+126G>A - IntronicSNV - 12/26 2
4-187535305-T-C c.9229+40A>G - IntronicSNV - 12/26 1
4-187535341-T-C c.9229+4A>G - IntronicSNV - 12/26 1
4-187535344-C-A c.9229+1G>T - IntronicSNV - 12/26 1
4-187535344-C-G c.9229+1G>C - IntronicSNV - 12/26 1
4-187535344-C-T c.9229+1G>A - IntronicSNV - 12/26 3
4-187535345-C-A c.9229G>T p.G3077C Missense 12/27 - 4
4-187535350-T-G c.9224A>C p.D3075A Missense 12/27 - 1
4-187535351-C-A c.9223G>T p.D3075Y Missense 12/27 - 3
4-187535353-G-A c.9221C>T p.P3074L Missense 12/27 - 2
4-187535353-G-C c.9221C>G p.P3074R Missense 12/27 - 1
4-187535354-G-A c.9220C>T p.P3074S Missense 12/27 - 1
4-187535354-G-T c.9220C>A p.P3074T Missense 12/27 - 1
4-187535355-A-G c.9219T>C p.N3073= Synonymous 12/27 - 1
4-187535359-A-G c.9215T>C p.L3072P Missense 12/27 - 5
4-187535364-G-A c.9210C>T p.F3070= Synonymous 12/27 - 5
4-187535368-T-G c.9206A>C p.K3069T Missense 12/27 - 1
4-187535370-T-A c.9204A>T p.E3068D Missense 12/27 - 1
4-187535370-T-G c.9204A>C p.E3068D Missense 12/27 - 1
4-187535371-T-A c.9203A>T p.E3068V Missense 12/27 - 2
4-187535372-C-T c.9202G>A p.E3068K Missense 12/27 - 2
4-187535375-C-T c.9199G>A p.A3067T Missense 12/27 - 1
4-187535376-A-C c.9198T>G p.G3066= Synonymous 12/27 - 1
4-187535380-G-A c.9194C>T p.S3065L Missense 12/27 - 1
4-187535380-G-C c.9194C>G p.S3065* Nonsense 12/27 - 1
4-187535380-G-T c.9194C>A p.S3065* Nonsense 12/27 - 1
4-187535383-C-T c.9191G>A p.G3064D Missense 12/27 - 2
4-187535387-A-G c.9187T>C p.L3063= Synonymous 12/27 - 1
4-187535389-A-G c.9185T>C p.L3062S Missense 12/27 - 2
4-187535391-C-T c.9183G>A p.T3061= Synonymous 12/27 - 1
4-187535395-T-C c.9179A>G p.Y3060C Missense 12/27 - 5
4-187535405-C-T c.9169G>A p.E3057K Missense 12/27 - 3
4-187535405-C-CA c.9168dup p.E3057* Nonsense 12/27 - 1
4-187535406-A-C c.9168T>G p.A3056= Synonymous 12/27 - 4
4-187535408-C-T c.9166G>A p.A3056T Missense 12/27 - 2
4-187535409-G-A c.9165C>T p.N3055= Synonymous 12/27 - 2
4-187535411-T-C c.9163A>G p.N3055D Missense 12/27 - 2
4-187535412-A-C c.9162T>G p.S3054= Synonymous 12/27 - 1
4-187535412-A-G c.9162T>C p.S3054= Synonymous 12/27 - 1
4-187535412-A-T c.9162T>A p.S3054= Synonymous 12/27 - 1
4-187535413-G-A c.9161C>T p.S3054F Missense 12/27 - 1
4-187535416-C-A c.9158G>T p.R3053L Missense 12/27 - 2
4-187535416-C-G c.9158G>C p.R3053P Missense 12/27 - 1
4-187535416-C-T c.9158G>A p.R3053H Missense 12/27 - 3
4-187535417-G-A c.9157C>T p.R3053C Missense 12/27 - 1
4-187535418-G-C c.9156C>G p.I3052M Missense 12/27 - 1
4-187535419-A-G c.9155T>C p.I3052T Missense 12/27 - 1
4-187535422-T-C c.9152A>G p.D3051G Missense 12/27 - 1
4-187535426-C-T c.9148G>A p.A3050T Missense 12/27 - 4
4-187535427-G-A c.9147C>T p.D3049= Synonymous 12/27 - 4
4-187535427-G-C c.9147C>G p.D3049E Missense 12/27 - 2
4-187535431-G-GT c.9142dup p.T3048Nfs*8 Frameshift 12/27 - 1
4-187535432-T-C c.9142A>G p.T3048A Missense 12/27 - 3
4-187535437-G-A c.9137C>T p.S3046F Missense 12/27 - 2
4-187535444-G-T c.9130C>A p.Q3044K Missense 12/27 - 1
4-187535446-A-T c.9128T>A p.M3043K Missense 12/27 - 1
4-187535447-T-A c.9127A>T p.M3043L Missense 12/27 - 1
4-187535447-T-C c.9127A>G p.M3043V Missense 12/27 - 1
4-187535448-G-A c.9126C>T p.I3042= Synonymous 12/27 - 3
4-187535448-G-C c.9126C>G p.I3042M Missense 12/27 - 5
4-187535448-G-T c.9126C>A p.I3042= Synonymous 12/27 - 1
4-187535453-AT-A c.9120del p.K3040Nfs*2 Frameshift 12/27 - 2
4-187535459-C-A c.9115G>T p.G3039* Nonsense 12/27 - 1
4-187535462-G-A c.9112C>T p.P3038S Missense 12/27 - 1
4-187535466-G-A c.9108C>T p.V3036= Synonymous 12/27 - 2
4-187535468-C-T c.9106G>A p.V3036I Missense 12/27 - 5
4-187535469-G-A c.9105C>T p.D3035= Synonymous 12/27 - 4
4-187535474-C-T c.9100G>A p.E3034K Missense 12/27 - 3
4-187535476-G-A c.9098C>T p.P3033L Missense 12/27 - 1
4-187535477-G-A c.9097C>T p.P3033S Missense 12/27 - 1
4-187535479-A-G c.9095T>C p.I3032T Missense 12/27 - 1
4-187535482-G-A c.9092C>T p.T3031I Missense 12/27 - 6
4-187535482-G-C c.9092C>G p.T3031S Missense 12/27 - 1
4-187535484-G-A c.9090C>T p.D3030= Synonymous 12/27 - 2
4-187535485-T-A c.9089A>T p.D3030V Missense 12/27 - 1
4-187535488-G-A c.9086C>T p.S3029L Missense 12/27 - 3
4-187535488-G-C c.9086C>G p.S3029* Nonsense 12/27 - 4
4-187535488-G-T c.9086C>A p.S3029* Nonsense 12/27 - 2
4-187535489-A-G c.9085T>C p.S3029P Missense 12/27 - 1
4-187535497-G-A c.9077C>T p.T3026I Missense 12/27 - 2
4-187535497-G-T c.9077C>A p.T3026N Missense 12/27 - 1
4-187535588-T-C c.9076-90A>G - IntronicSNV - 11/26 1
4-187535765-T-A c.9076-267A>T - IntronicSNV - 11/26 1
4-187535765-T-C c.9076-267A>G - IntronicSNV - 11/26 1
4-187538031-C-A c.9075+128G>T - IntronicSNV - 11/26 1
4-187538133-A-G c.9075+26T>C - IntronicSNV - 11/26 10
4-187538157-A-C c.9075+2T>G - IntronicSNV - 11/26 1
4-187538160-T-C c.9074A>G p.K3025R Missense 11/27 - 1
4-187538161-T-G c.9073A>C p.K3025Q Missense 11/27 - 1
4-187538163-T-C c.9071A>G p.E3024G Missense 11/27 - 1
4-187538164-C-A c.9070G>T p.E3024* Nonsense 11/27 - 7
4-187538164-C-T c.9070G>A p.E3024K Missense 11/27 - 1
4-187538165-A-C c.9069T>G p.C3023W Missense 11/27 - 1
4-187538166-C-A c.9068G>T p.C3023F Missense 11/27 - 4
4-187538166-C-T c.9068G>A p.C3023Y Missense 11/27 - 2
4-187538170-C-T c.9064G>A p.V3022I Missense 11/27 - 2
4-187538172-G-A c.9062C>T p.P3021L Missense 11/27 - 1
4-187538172-G-T c.9062C>A p.P3021Q Missense 11/27 - 1
4-187538173-G-A c.9061C>T p.P3021S Missense 11/27 - 1
4-187538178-T-A c.9056A>T p.N3019I Missense 11/27 - 1
4-187538178-T-C c.9056A>G p.N3019S Missense 11/27 - 1
4-187538179-T-C c.9055A>G p.N3019D Missense 11/27 - 1
4-187538183-A-G c.9051T>C p.N3017= Synonymous 11/27 - 2
4-187538188-C-T c.9046G>A p.A3016T Missense 11/27 - 2
4-187538192-C-A c.9042G>T p.L3014= Synonymous 11/27 - 2
4-187538192-C-G c.9042G>C p.L3014= Synonymous 11/27 - 2
4-187538192-C-T c.9042G>A p.L3014= Synonymous 11/27 - 2
4-187538194-G-A c.9040C>T p.L3014= Synonymous 11/27 - 2
4-187538201-CA-GT c.9032_9033delinsAC p.V3011D Missense 11/27 - 1
4-187538201-C-T c.9033G>A p.V3011= Synonymous 11/27 - 1
4-187538208-A-C c.9026T>G p.V3009G Missense 11/27 - 2
4-187538213-C-T c.9021G>A p.A3007= Synonymous 11/27 - 1
4-187538214-G-A c.9020C>T p.A3007V Missense 11/27 - 2
4-187538215-C-T c.9019G>A p.A3007T Missense 11/27 - 1
4-187538216-T-C c.9018A>G p.K3006= Synonymous 11/27 - 1
4-187538220-G-A c.9014C>T p.S3005L Missense 11/27 - 4
4-187538220-G-C c.9014C>G p.S3005* Nonsense 11/27 - 3
4-187538223-G-C c.9011C>G p.S3004* Nonsense 11/27 - 3
4-187538223-G-T c.9011C>A p.S3004* Nonsense 11/27 - 2
4-187538226-A-T c.9008T>A p.F3003Y Missense 11/27 - 1
4-187538229-G-T c.9005C>A p.T3002N Missense 11/27 - 1
4-187538232-C-T c.9002G>A p.G3001D Missense 11/27 - 5
4-187538238-G-A c.8996C>T p.T2999I Missense 11/27 - 2
4-187538238-G-C c.8996C>G p.T2999S Missense 11/27 - 4
4-187538239-T-A c.8995A>T p.T2999S Missense 11/27 - 5
4-187538242-C-T c.8992G>A p.A2998T Missense 11/27 - 1
4-187538243-C-T c.8991G>A p.T2997= Synonymous 11/27 - 2
4-187538244-G-A c.8990C>T p.T2997M Missense 11/27 - 1
4-187538246-G-A c.8988C>T p.I2996= Synonymous 11/27 - 1
4-187538246-G-T c.8988C>A p.I2996= Synonymous 11/27 - 1
4-187538250-G-A c.8984C>T p.T2995I Missense 11/27 - 4
4-187538250-G-C c.8984C>G p.T2995S Missense 11/27 - 1
4-187538251-T-C c.8983A>G p.T2995A Missense 11/27 - 1
4-187538253-A-C c.8981T>G p.L2994R Missense 11/27 - 8
4-187538257-G-A c.8977C>T p.L2993F Missense 11/27 - 1
4-187538257-G-T c.8977C>A p.L2993I Missense 11/27 - 2
4-187538260-A-C c.8974T>G p.Y2992D Missense 11/27 - 1
4-187538262-T-A c.8972A>T p.N2991I Missense 11/27 - 1
4-187538263-T-C c.8971A>G p.N2991D Missense 11/27 - 1
4-187538266-C-CA c.8967_8968insT p.D2990* Nonsense 11/27 - 1
4-187538267-C-T c.8967G>A p.R2989= Synonymous 11/27 - 1
4-187538268-C-T c.8966G>A p.R2989K Missense 11/27 - 1
4-187538269-T-TA c.8964_8965insT p.R2989* Nonsense 11/27 - 2
4-187538271-T-A c.8963A>T p.K2988I Missense 11/27 - 11
4-187538272-T-A c.8962A>T p.K2988* Nonsense 11/27 - 2
4-187538268-C-CT c.8965dup p.R2989Kfs*12 Frameshift 11/27 - 2
4-187538268-CT-C c.8965del p.R2989Gfs*20 Frameshift 11/27 - 2
4-187538275-C-T c.8959G>A p.E2987K Missense 11/27 - 4
4-187538277-C-A c.8957G>T p.R2986M Missense 11/27 - 1
4-187538279-G-C c.8955C>G p.D2985E Missense 11/27 - 1
4-187538279-G-T c.8955C>A p.D2985E Missense 11/27 - 1
4-187538282-CTA-C c.8951_8952del p.L2984Rfs*16 Frameshift 11/27 - 1
4-187538287-G-A c.8947C>T p.P2983S Missense 11/27 - 1
4-187538291-C-A c.8943G>T p.K2981N Missense 11/27 - 3
4-187538291-C-G c.8943G>C p.K2981N Missense 11/27 - 2
4-187538293-T-A c.8941A>T p.K2981* Nonsense 11/27 - 1
4-187538294-C-A c.8940G>T p.V2980= Synonymous 11/27 - 1
4-187538294-C-G c.8940G>C p.V2980= Synonymous 11/27 - 1
4-187538294-C-T c.8940G>A p.V2980= Synonymous 11/27 - 5
4-187538299-A-G c.8935T>C p.Y2979H Missense 11/27 - 1
4-187538300-T-C c.8934A>G p.V2978= Synonymous 11/27 - 1
4-187538307-C-A c.8927G>T p.W2976L Missense 11/27 - 1
4-187538308-A-C c.8926T>G p.W2976G Missense 11/27 - 1
4-187538312-A-G c.8922T>C p.N2974= Synonymous 11/27 - 1
4-187538314-T-A c.8920A>T p.N2974Y Missense 11/27 - 1
4-187538320-T-A c.8914A>T p.I2972L Missense 11/27 - 2
4-187538320-T-G c.8914A>C p.I2972L Missense 11/27 - 1
4-187538323-T-C c.8911A>G p.T2971A Missense 11/27 - 7
4-187538324-T-A c.8910A>T p.E2970D Missense 11/27 - 1
4-187538324-T-G c.8910A>C p.E2970D Missense 11/27 - 5
4-187538329-C-T c.8905G>A p.V2969I Missense 11/27 - 3
4-187538330-G-A c.8904C>T p.A2968= Synonymous 11/27 - 19
4-187538330-G-C c.8904C>G p.A2968= Synonymous 11/27 - 4
4-187538330-G-T c.8904C>A p.A2968= Synonymous 11/27 - 14
4-187538331-G-A c.8903C>T p.A2968V Missense 11/27 - 1
4-187538336-C-A c.8898G>T p.Q2966H Missense 11/27 - 1
4-187538336-C-G c.8898G>C p.Q2966H Missense 11/27 - 1
4-187538340-C-G c.8894G>C p.G2965A Missense 11/27 - 1
4-187538340-C-T c.8894G>A p.G2965E Missense 11/27 - 1
4-187538341-C-A c.8893G>T p.G2965* Nonsense 11/27 - 1
4-187538342-T-A c.8892A>T p.L2964F Missense 11/27 - 1
4-187538342-T-G c.8892A>C p.L2964F Missense 11/27 - 1
4-187538346-G-T c.8888C>A p.P2963H Missense 11/27 - 1
4-187538347-G-A c.8887C>T p.P2963S Missense 11/27 - 1
4-187538349-T-C c.8885A>G p.D2962G Missense 11/27 - 1
4-187538350-C-A c.8884G>T p.D2962Y Missense 11/27 - 1
4-187538353-C-A c.8881G>T p.G2961W Missense 11/27 - 3
4-187538353-C-T c.8881G>A p.G2961R Missense 11/27 - 1
4-187538465-T-C c.8879-110A>G - IntronicSNV - 10/26 1
4-187538839-C-T c.8878+23G>A - IntronicSNV - 10/26 1
4-187538851-A-AT c.8878+10dup - IntronicInsertion - 10/26 1
4-187538859-T-C c.8878+3A>G - IntronicSNV - 10/26 1
4-187538861-C-A c.8878+1G>T - IntronicSNV - 10/26 2
4-187538862-C-T c.8878G>A p.G2960R Missense 10/27 - 1
4-187538865-T-C c.8875A>G p.T2959A Missense 10/27 - 2
4-187538866-T-C c.8874A>G p.I2958M Missense 10/27 - 1
4-187538867-A-G c.8873T>C p.I2958T Missense 10/27 - 1
4-187538869-G-A c.8871C>T p.F2957= Synonymous 10/27 - 2
4-187538880-C-T c.8860G>A p.V2954I Missense 10/27 - 1
4-187538881-T-A c.8859A>T p.Q2953H Missense 10/27 - 1
4-187538881-T-G c.8859A>C p.Q2953H Missense 10/27 - 1
4-187538888-T-C c.8852A>G p.N2951S Missense 10/27 - 2
4-187538893-C-CT c.8846dup p.I2950Dfs*21 Frameshift 10/27 - 1
4-187538895-C-G c.8845G>C p.E2949Q Missense 10/27 - 1
4-187538895-C-T c.8845G>A p.E2949K Missense 10/27 - 4
4-187538898-C-CA c.8841dup p.E2948* Nonsense 10/27 - 1
4-187538904-C-T c.8836G>A p.D2946N Missense 10/27 - 1
4-187538905-A-C c.8835T>G p.A2945= Synonymous 10/27 - 1
4-187538905-A-G c.8835T>C p.A2945= Synonymous 10/27 - 1
4-187538905-A-T c.8835T>A p.A2945= Synonymous 10/27 - 1
4-187538910-C-A c.8830G>T p.D2944Y Missense 10/27 - 2
4-187538910-C-T c.8830G>A p.D2944N Missense 10/27 - 3
4-187538911-C-A c.8829G>T p.T2943= Synonymous 10/27 - 2
4-187538911-C-G c.8829G>C p.T2943= Synonymous 10/27 - 1
4-187538911-C-T c.8829G>A p.T2943= Synonymous 10/27 - 2
4-187538912-G-A c.8828C>T p.T2943M Missense 10/27 - 4
4-187538912-G-C c.8828C>G p.T2943R Missense 10/27 - 1
4-187538912-G-T c.8828C>A p.T2943K Missense 10/27 - 2
4-187538918-C-T c.8822G>A p.S2941N Missense 10/27 - 1
4-187538923-G-C c.8817C>G p.I2939M Missense 10/27 - 1
4-187538926-G-T c.8814C>A p.A2938= Synonymous 10/27 - 1
4-187538926-GGCAATCACCCCACCTT-G c.8798_8813del p.Q2933Pfs*3 Frameshift 10/27 - 1
4-187538928-C-T c.8812G>A p.A2938T Missense 10/27 - 1
4-187538931-T-A c.8809A>T p.I2937F Missense 10/27 - 1
4-187538934-C-T c.8806G>A p.V2936M Missense 10/27 - 1
4-187538936-C-G c.8804G>C p.G2935A Missense 10/27 - 2
4-187538933-AC-A c.8806del p.V2936* Frameshift 10/27 - 2
4-187538937-C-A c.8803G>T p.G2935W Missense 10/27 - 1
4-187538938-AC-A c.8801del p.G2934Vfs*3 Frameshift 10/27 - 2
4-187538940-C-T c.8800G>A p.G2934S Missense 10/27 - 2
4-187538941-T-A c.8799A>T p.Q2933H Missense 10/27 - 1
4-187538941-T-C c.8799A>G p.Q2933= Synonymous 10/27 - 2
4-187538941-T-G c.8799A>C p.Q2933H Missense 10/27 - 1
4-187538941-T-TG c.8798_8799insC p.Q2933Hfs*14 Frameshift 10/27 - 1
4-187538940-CT-C c.8799del p.G2934Vfs*3 Frameshift 10/27 - 6
4-187538942-T-A c.8798A>T p.Q2933L Missense 10/27 - 28
4-187538942-T-G c.8798A>C p.Q2933P Missense 10/27 - 46
4-187538942-T-GG c.8798delinsCC p.Q2933Pfs*14 Frameshift 10/27 - 1
4-187538943-G-A c.8797C>T p.Q2933* Nonsense 10/27 - 1
4-187538944-G-A c.8796C>T p.P2932= Synonymous 10/27 - 2
4-187538945-G-A c.8795C>T p.P2932L Missense 10/27 - 1
4-187538946-G-A c.8794C>T p.P2932S Missense 10/27 - 1
4-187538949-C-T c.8791G>A p.D2931N Missense 10/27 - 2
4-187538952-C-A c.8788G>T p.D2930Y Missense 10/27 - 6
4-187538955-C-A c.8785G>T p.E2929* Nonsense 10/27 - 2
4-187538958-T-A c.8782A>T p.S2928C Missense 10/27 - 1
4-187538958-T-TC c.8781dup p.S2928Efs*2 Frameshift 10/27 - 1
4-187538963-G-A c.8777C>T p.T2926I Missense 10/27 - 2
4-187538966-C-T c.8774G>A p.G2925E Missense 10/27 - 1
4-187538970-T-C c.8770A>G p.K2924E Missense 10/27 - 1
4-187538974-G-C c.8766C>G p.I2922M Missense 10/27 - 1
4-187538977-C-A c.8763G>T p.E2921D Missense 10/27 - 1
4-187538977-C-G c.8763G>C p.E2921D Missense 10/27 - 1
4-187538979-C-T c.8761G>A p.E2921K Missense 10/27 - 2
4-187538980-G-A c.8760C>T p.A2920= Synonymous 10/27 - 2
4-187538980-G-C c.8760C>G p.A2920= Synonymous 10/27 - 1
4-187538980-G-T c.8760C>A p.A2920= Synonymous 10/27 - 3
4-187538981-G-A c.8759C>T p.A2920V Missense 10/27 - 2
4-187538984-G-A c.8756C>T p.T2919M Missense 10/27 - 2
4-187538988-A-G c.8752T>C p.F2918L Missense 10/27 - 2
4-187538990-C-T c.8750G>A p.R2917Q Missense 10/27 - 1
4-187538991-G-A c.8749C>T p.R2917* Nonsense 10/27 - 8
4-187538994-G-A c.8746C>T p.P2916S Missense 10/27 - 1
4-187539003-C-A c.8737G>T p.D2913Y Missense 10/27 - 1
4-187539003-C-T c.8737G>A p.D2913N Missense 10/27 - 2
4-187539004-G-A c.8736C>T p.N2912= Synonymous 10/27 - 2
4-187539007-G-A c.8733C>T p.V2911= Synonymous 10/27 - 1
4-187539012-C-T c.8728G>A p.D2910N Missense 10/27 - 4
4-187539013-G-A c.8727C>T p.T2909= Synonymous 10/27 - 4
4-187539013-G-C c.8727C>G p.T2909= Synonymous 10/27 - 1
4-187539013-G-T c.8727C>A p.T2909= Synonymous 10/27 - 1
4-187539018-C-T c.8722G>A p.V2908I Missense 10/27 - 6
4-187539019-G-A c.8721C>T p.T2907= Synonymous 10/27 - 3
4-187539019-G-C c.8721C>G p.T2907= Synonymous 10/27 - 3
4-187539019-G-T c.8721C>A p.T2907= Synonymous 10/27 - 3
4-187539020-G-A c.8720C>T p.T2907I Missense 10/27 - 1
4-187539024-C-G c.8716G>C p.V2906L Missense 10/27 - 1
4-187539024-C-T c.8716G>A p.V2906I Missense 10/27 - 1
4-187539026-T-A c.8714A>T p.D2905V Missense 10/27 - 1
4-187539030-C-A c.8710G>T p.V2904L Missense 10/27 - 1
4-187539030-C-T c.8710G>A p.V2904M Missense 10/27 - 2
4-187539031-A-G c.8709T>C p.I2903= Synonymous 10/27 - 1
4-187539031-A-T c.8709T>A p.I2903= Synonymous 10/27 - 1
4-187539036-C-T c.8704G>A p.A2902T Missense 10/27 - 3
4-187539038-TG-T c.8702del p.T2901Kfs*27 Frameshift 10/27 - 1
4-187539034-GGCTGTGGAGGATA-G c.8693_8705del p.L2898Pfs*26 Frameshift 10/27 - 1
4-187539039-T-G c.8701A>C p.T2901P Missense 10/27 - 1
4-187539043-G-A c.8697C>T p.S2899= Synonymous 10/27 - 1
4-187539043-G-C c.8697C>G p.S2899= Synonymous 10/27 - 1
4-187539043-G-T c.8697C>A p.S2899= Synonymous 10/27 - 1
4-187539050-T-G c.8690A>C p.Q2897P Missense 10/27 - 2
4-187539051-G-A c.8689C>T p.Q2897* Nonsense 10/27 - 6
4-187539053-A-T c.8687T>A p.I2896N Missense 10/27 - 1
4-187539055-C-A c.8685G>T p.K2895N Missense 10/27 - 2
4-187539055-C-G c.8685G>C p.K2895N Missense 10/27 - 1
4-187539060-C-A c.8680G>T p.E2894* Nonsense 10/27 - 5
4-187539060-C-T c.8680G>A p.E2894K Missense 10/27 - 1
4-187539063-C-A c.8677G>T p.G2893C Missense 10/27 - 2
4-187539063-C-T c.8677G>A p.G2893S Missense 10/27 - 1
4-187539064-A-G c.8676T>C p.H2892= Synonymous 10/27 - 1
4-187539066-G-A c.8674C>T p.H2892Y Missense 10/27 - 1
4-187539068-T-C c.8672A>G p.D2891G Missense 10/27 - 1
4-187539069-C-A c.8671G>T p.D2891Y Missense 10/27 - 1
4-187539069-C-T c.8671G>A p.D2891N Missense 10/27 - 3
4-187539071-G-A c.8669C>T p.S2890L Missense 10/27 - 5
4-187539071-G-C c.8669C>G p.S2890* Nonsense 10/27 - 3
4-187539071-G-T c.8669C>A p.S2890* Nonsense 10/27 - 1
4-187539078-C-A c.8662G>T p.V2888F Missense 10/27 - 3
4-187539078-C-T c.8662G>A p.V2888I Missense 10/27 - 1
4-187539082-T-A c.8658A>T p.K2886N Missense 10/27 - 2
4-187539082-T-G c.8658A>C p.K2886N Missense 10/27 - 2
4-187539084-T-C c.8656A>G p.K2886E Missense 10/27 - 1
4-187539089-T-C c.8651A>G p.Q2884R Missense 10/27 - 1
4-187539090-G-A c.8650C>T p.Q2884* Nonsense 10/27 - 5
4-187539091-G-C c.8649C>G p.Y2883* Nonsense 10/27 - 3
4-187539091-G-T c.8649C>A p.Y2883* Nonsense 10/27 - 1
4-187539094-A-G c.8646T>C p.N2882= Synonymous 10/27 - 3
4-187539096-T-A c.8644A>T p.N2882Y Missense 10/27 - 1
4-187539097-G-C c.8643C>G p.D2881E Missense 10/27 - 1
4-187539097-G-T c.8643C>A p.D2881E Missense 10/27 - 1
4-187539100-T-CTTACCG c.8640delinsCGGTAAG p.R2880delinsSGK MultiAAMissense 10/27 - 1
4-187539101-C-A c.8639G>T p.R2880I Missense 10/27 - 1
4-187539101-C-T c.8639G>A p.R2880K Missense 10/27 - 2
4-187539104-T-G c.8636A>C p.K2879T Missense 10/27 - 1
4-187539105-T-C c.8635A>G p.K2879E Missense 10/27 - 1
4-187539111-G-A c.8629C>T p.H2877Y Missense 10/27 - 1
4-187539114-C-G c.8626G>C p.D2876H Missense 10/27 - 1
4-187539114-C-T c.8626G>A p.D2876N Missense 10/27 - 1
4-187539116-AAGTTCCTTTAAAGT-A c.8611_8624del p.T2871* Frameshift 10/27 - 1
4-187539116-A-G c.8624T>C p.L2875P Missense 10/27 - 3
4-187539118-T-C c.8622A>G p.E2874= Synonymous 10/27 - 1
4-187539114-CAAGTTCCTTTA-C c.8615_8625del p.L2872* Frameshift 10/27 - 1
4-187539120-C-A c.8620G>T p.E2874* Nonsense 10/27 - 2
4-187539124-T-G c.8616A>C p.L2872F Missense 10/27 - 1
4-187539125-A-G c.8615T>C p.L2872S Missense 10/27 - 1
4-187539126-A-G c.8614T>C p.L2872= Synonymous 10/27 - 1
4-187539129-T-G c.8611A>C p.T2871P Missense 10/27 - 1
4-187539135-T-C c.8605A>G p.I2869V Missense 10/27 - 1
4-187539136-C-A c.8604G>T p.W2868C Missense 10/27 - 3
4-187539136-C-G c.8604G>C p.W2868C Missense 10/27 - 2
4-187539136-C-T c.8604G>A p.W2868* Nonsense 10/27 - 1
4-187539137-C-T c.8603G>A p.W2868* Nonsense 10/27 - 2
4-187539140-C-T c.8600G>A p.G2867D Missense 10/27 - 3
4-187539144-T-C c.8596A>G p.T2866A Missense 10/27 - 1
4-187539149-A-G c.8591T>C p.M2864T Missense 10/27 - 4
4-187539149-CA-C c.8591del p.M2864Rfs*9 Frameshift 10/27 - 1
4-187539158-G-A c.8582C>T p.A2861V Missense 10/27 - 2
4-187539163-G-A c.8577C>T p.S2859= Synonymous 10/27 - 3
4-187539163-G-C c.8577C>G p.S2859= Synonymous 10/27 - 2
4-187539163-G-T c.8577C>A p.S2859= Synonymous 10/27 - 3
4-187539167-T-G c.8573A>C p.E2858A Missense 10/27 - 2
4-187539168-C-A c.8572G>T p.E2858* Nonsense 10/27 - 1
4-187539168-C-T c.8572G>A p.E2858K Missense 10/27 - 1
4-187539169-A-C c.8571T>G p.I2857M Missense 10/27 - 2
4-187539175-T-A c.8565A>T p.E2855D Missense 10/27 - 1
4-187539175-T-G c.8565A>C p.E2855D Missense 10/27 - 1
4-187539180-C-A c.8560G>T p.V2854L Missense 10/27 - 1
4-187539182-C-T c.8558G>A p.S2853N Missense 10/27 - 1
4-187539183-T-C c.8557A>G p.S2853G Missense 10/27 - 1
4-187539186-G-A c.8554C>T p.Q2852* Nonsense 10/27 - 2
4-187539191-T-G c.8549A>C p.Q2850P Missense 10/27 - 1
4-187539192-G-A c.8548C>T p.Q2850* Nonsense 10/27 - 7
4-187539192-G-C c.8548C>G p.Q2850E Missense 10/27 - 2
4-187539195-C-T c.8545G>A p.D2849N Missense 10/27 - 3
4-187539197-A-G c.8543T>C p.L2848P Missense 10/27 - 1
4-187539197-A-T c.8543T>A p.L2848Q Missense 10/27 - 1
4-187539203-T-C c.8537A>G p.Y2846C Missense 10/27 - 1
4-187539205-C-A c.8535G>T p.M2845I Missense 10/27 - 2
4-187539205-C-G c.8535G>C p.M2845I Missense 10/27 - 2
4-187539205-C-T c.8535G>A p.M2845I Missense 10/27 - 5
4-187539210-C-T c.8530G>A p.V2844I Missense 10/27 - 1
4-187539213-G-A c.8527C>T p.Q2843* Nonsense 10/27 - 2
4-187539215-C-T c.8525G>A p.G2842D Missense 10/27 - 1
4-187539216-C-A c.8524G>T p.G2842C Missense 10/27 - 2
4-187539217-G-A c.8523C>T p.N2841= Synonymous 10/27 - 10
4-187539220-GG-CA c.8519_8520delinsTG p.T2840M Missense 10/27 - 1
4-187539220-G-T c.8520C>A p.T2840= Synonymous 10/27 - 1
4-187539224-C-T c.8516G>A p.G2839E Missense 10/27 - 2
4-187539225-C-A c.8515G>T p.G2839* Nonsense 10/27 - 1
4-187539226-T-A c.8514A>T p.S2838= Synonymous 10/27 - 3
4-187539226-T-C c.8514A>G p.S2838= Synonymous 10/27 - 1
4-187539226-T-G c.8514A>C p.S2838= Synonymous 10/27 - 1
4-187539227-G-C c.8513C>G p.S2838* Nonsense 10/27 - 6
4-187539227-G-T c.8513C>A p.S2838* Nonsense 10/27 - 6
4-187539228-A-G c.8512T>C p.S2838P Missense 10/27 - 1
4-187539233-G-C c.8507C>G p.A2836G Missense 10/27 - 1
4-187539237-C-A c.8503G>T p.D2835Y Missense 10/27 - 1
4-187539237-C-T c.8503G>A p.D2835N Missense 10/27 - 2
4-187539239-G-A c.8501C>T p.S2834F Missense 10/27 - 2
4-187539244-C-A c.8496G>T p.R2832S Missense 10/27 - 3
4-187539244-CCT-ATG c.8494_8496delinsCAT p.R2832H Missense 10/27 - 1
4-187539244-C-G c.8496G>C p.R2832S Missense 10/27 - 2
4-187539245-C-A c.8495G>T p.R2832M Missense 10/27 - 1
4-187539246-T-C c.8494A>G p.R2832G Missense 10/27 - 1
4-187539250-C-A c.8490G>T p.Q2830H Missense 10/27 - 2
4-187539252-G-A c.8488C>T p.Q2830* Nonsense 10/27 - 6
4-187539255-T-A c.8485A>T p.I2829F Missense 10/27 - 2
4-187539257-A-C c.8483T>G p.V2828G Missense 10/27 - 1
4-187539261-T-A c.8479A>T p.R2827* Nonsense 10/27 - 1
4-187539263-C-A c.8477G>T p.S2826I Missense 10/27 - 1
4-187539264-T-TA c.8475_8476insT p.S2826* Nonsense 10/27 - 1
4-187539267-C-G c.8473G>C p.G2825R Missense 10/27 - 2
4-187539267-C-T c.8473G>A p.G2825R Missense 10/27 - 3
4-187539265-TC-T c.8474del p.G2825Efs*4 Frameshift 10/27 - 2
4-187539265-T-TC c.8474dup p.S2826Kfs*2 Frameshift 10/27 - 2
4-187539273-G-A c.8467C>T p.P2823S Missense 10/27 - 1
4-187539275-A-G c.8465T>C p.L2822P Missense 10/27 - 13
4-187539278-T-A c.8462A>T p.N2821I Missense 10/27 - 1
4-187539277-GT-G c.8462del p.N2821Tfs*8 Frameshift 10/27 - 1
4-187539281-T-G c.8459A>C p.E2820A Missense 10/27 - 1
4-187539282-C-A c.8458G>T p.E2820* Nonsense 10/27 - 1
4-187539284-A-G c.8456T>C p.V2819A Missense 10/27 - 2
4-187539285-C-T c.8455G>A p.V2819I Missense 10/27 - 1
4-187539288-AT-A c.8452del p.I2818Lfs*11 Frameshift 10/27 - 1
4-187539289-G-A c.8451C>T p.F2817= Synonymous 10/27 - 1
4-187539293-G-A c.8447C>T p.A2816V Missense 10/27 - 1
4-187539296-T-C c.8444A>G p.E2815G Missense 10/27 - 2
4-187539296-T-G c.8444A>C p.E2815A Missense 10/27 - 1
4-187539302-G-A c.8438C>T p.P2813L Missense 10/27 - 8
4-187539303-G-T c.8437C>A p.P2813T Missense 10/27 - 1
4-187539308-G-C c.8432C>G p.S2811C Missense 10/27 - 1
4-187539312-C-T c.8428G>A p.E2810K Missense 10/27 - 1
4-187539319-C-T c.8421G>A p.P2807= Synonymous 10/27 - 2
4-187539320-G-A c.8420C>T p.P2807L Missense 10/27 - 1
4-187539320-G-T c.8420C>A p.P2807Q Missense 10/27 - 4
4-187539321-G-T c.8419C>A p.P2807T Missense 10/27 - 2
4-187539323-C-T c.8417G>A p.S2806N Missense 10/27 - 2
4-187539324-T-A c.8416A>T p.S2806C Missense 10/27 - 1
4-187539326-T-C c.8414A>G p.N2805S Missense 10/27 - 2
4-187539329-T-C c.8411A>G p.D2804G Missense 10/27 - 1
4-187539330-C-T c.8410G>A p.D2804N Missense 10/27 - 3
4-187539332-T-C c.8408A>G p.N2803S Missense 10/27 - 1
4-187539335-G-A c.8405C>T p.A2802V Missense 10/27 - 1
4-187539342-T-C c.8398A>G p.K2800E Missense 10/27 - 1
4-187539344-A-T c.8396T>A p.V2799E Missense 10/27 - 1
4-187539348-G-T c.8392C>A p.Q2798K Missense 10/27 - 1
4-187539351-T-C c.8389A>G p.I2797V Missense 10/27 - 1
4-187539353-CT-AG c.8386_8387inv p.S2796L Missense 10/27 - 1
4-187539354-T-C c.8386A>G p.S2796G Missense 10/27 - 1
4-187539356-A-G c.8384T>C p.V2795A Missense 10/27 - 1
4-187539360-TC-T c.8380del p.D2794Mfs*6 Frameshift 10/27 - 1
4-187539363-ACAG-A c.8375_8377del p.S2792_V2793delinsL MultiAAMissense 10/27 - 1
4-187539363-C-A c.8377G>T p.V2793L Missense 10/27 - 1
4-187539363-C-G c.8377G>C p.V2793L Missense 10/27 - 1
4-187539365-G-A c.8375C>T p.S2792F Missense 10/27 - 1
4-187539367-A-T c.8373T>A p.A2791= Synonymous 10/27 - 2
4-187539369-C-T c.8371G>A p.A2791T Missense 10/27 - 2
4-187539375-T-C c.8365A>G p.M2789V Missense 10/27 - 1
4-187539377-T-G c.8363A>C p.E2788A Missense 10/27 - 4
4-187539378-C-A c.8362G>T p.E2788* Nonsense 10/27 - 3
4-187539378-C-G c.8362G>C p.E2788Q Missense 10/27 - 1
4-187539378-C-T c.8362G>A p.E2788K Missense 10/27 - 3
4-187539387-C-T c.8353G>A p.D2785N Missense 10/27 - 3
4-187539390-G-A c.8350C>T p.Q2784* Nonsense 10/27 - 3
4-187539392-G-A c.8348C>T p.T2783I Missense 10/27 - 1
4-187539394-G-T c.8346C>A p.C2782* Nonsense 10/27 - 1
4-187539397-C-T c.8343G>A p.R2781= Synonymous 10/27 - 1
4-187539400-G-A c.8340C>T p.A2780= Synonymous 10/27 - 1
4-187539400-G-C c.8340C>G p.A2780= Synonymous 10/27 - 1
4-187539400-G-T c.8340C>A p.A2780= Synonymous 10/27 - 1
4-187539405-G-C c.8335C>G p.L2779V Missense 10/27 - 2
4-187539416-T-A c.8324A>T p.Q2775L Missense 10/27 - 1
4-187539416-T-C c.8324A>G p.Q2775R Missense 10/27 - 2
4-187539417-G-A c.8323C>T p.Q2775* Nonsense 10/27 - 5
4-187539417-G-C c.8323C>G p.Q2775E Missense 10/27 - 1
4-187539418-A-C c.8322T>G p.Y2774* Nonsense 10/27 - 2
4-187539418-A-T c.8322T>A p.Y2774* Nonsense 10/27 - 3
4-187539421-C-T c.8319G>A p.W2773* Nonsense 10/27 - 2
4-187539422-C-T c.8318G>A p.W2773* Nonsense 10/27 - 1
4-187539425-T-A c.8315A>T p.K2772M Missense 10/27 - 1
4-187539425-T-G c.8315A>C p.K2772T Missense 10/27 - 1
4-187539430-T-G c.8310A>C p.T2770= Synonymous 10/27 - 1
4-187539431-G-A c.8309C>T p.T2770I Missense 10/27 - 1
4-187539437-T-C c.8303A>G p.H2768R Missense 10/27 - 1
4-187539440-T-G c.8300A>C p.D2767A Missense 10/27 - 1
4-187539441-C-T c.8299G>A p.D2767N Missense 10/27 - 1
4-187539444-G-T c.8296C>A p.L2766I Missense 10/27 - 1
4-187539446-C-A c.8294G>T p.S2765I Missense 10/27 - 1
4-187539446-C-G c.8294G>C p.S2765T Missense 10/27 - 1
4-187539446-C-T c.8294G>A p.S2765N Missense 10/27 - 1
4-187539448-C-A c.8292G>T p.K2764N Missense 10/27 - 3
4-187539448-C-G c.8292G>C p.K2764N Missense 10/27 - 4
4-187539453-C-A c.8287G>T p.E2763* Nonsense 10/27 - 1
4-187539456-ACTTCAGTCTCCCG-A c.8271_8283del p.G2758Wfs*32 Frameshift 10/27 - 1
4-187539460-TCAGTCTCCCGCTCTGTCTGTCAATCAC-T c.8254_8280del p.V2752_L2760del InFrameDeletion 10/27 - 1
4-187539463-T-C c.8277A>G p.R2759= Synonymous 10/27 - 1
4-187539465-T-G c.8275A>C p.R2759= Synonymous 10/27 - 1
4-187539466-CC-GT c.8273_8274delinsAC p.G2758D Missense 10/27 - 2
4-187539468-C-A c.8272G>T p.G2758W Missense 10/27 - 1
4-187539468-C-T c.8272G>A p.G2758R Missense 10/27 - 2
4-187539469-G-C c.8271C>G p.S2757R Missense 10/27 - 1
4-187539469-G-T c.8271C>A p.S2757R Missense 10/27 - 1
4-187539471-T-G c.8269A>C p.S2757R Missense 10/27 - 1
4-187539471-T-C c.8269A>G p.S2757G Missense 10/27 - 1
4-187539472-C-A c.8268G>T p.Q2756H Missense 10/27 - 1
4-187539472-C-G c.8268G>C p.Q2756H Missense 10/27 - 1
4-187539476-C-T c.8264G>A p.R2755K Missense 10/27 - 1
4-187539486-CA-C c.8253del p.F2751Lfs*2 Frameshift 10/27 - 2
4-187539490-G-A c.8250C>T p.S2750= Synonymous 10/27 - 1
4-187539491-G-A c.8249C>T p.S2750F Missense 10/27 - 1
4-187539491-G-C c.8249C>G p.S2750C Missense 10/27 - 3
4-187539493-C-A c.8247G>T p.E2749D Missense 10/27 - 3
4-187539493-C-G c.8247G>C p.E2749D Missense 10/27 - 3
4-187539497-T-A c.8243A>T p.D2748V Missense 10/27 - 1
4-187539498-C-A c.8242G>T p.D2748Y Missense 10/27 - 1
4-187539498-C-T c.8242G>A p.D2748N Missense 10/27 - 1
4-187539500-C-A c.8240G>T p.R2747M Missense 10/27 - 1
4-187539500-C-G c.8240G>C p.R2747T Missense 10/27 - 1
4-187539500-C-T c.8240G>A p.R2747K Missense 10/27 - 1
4-187539505-G-A c.8235C>T p.S2745= Synonymous 10/27 - 1
4-187539510-C-A c.8230G>T p.E2744* Nonsense 10/27 - 2
4-187539512-G-A c.8228C>T p.P2743L Missense 10/27 - 1
4-187539513-G-C c.8227C>G p.P2743A Missense 10/27 - 1
4-187539523-T-C c.8217A>G p.K2739= Synonymous 10/27 - 1
4-187539528-C-A c.8212G>T p.V2738F Missense 10/27 - 1
4-187539531-G-T c.8209C>A p.L2737M Missense 10/27 - 1
4-187539532-G-C c.8208C>G p.S2736R Missense 10/27 - 4
4-187539532-G-T c.8208C>A p.S2736R Missense 10/27 - 2
4-187539534-T-G c.8206A>C p.S2736R Missense 10/27 - 2
4-187539534-T-A c.8206A>T p.S2736C Missense 10/27 - 1
4-187539540-G-T c.8200C>A p.L2734I Missense 10/27 - 1
4-187539555-G-A c.8185C>T p.H2729Y Missense 10/27 - 1
4-187539558-C-T c.8182G>A p.E2728K Missense 10/27 - 1
4-187539562-T-A c.8178A>T p.R2726= Synonymous 10/27 - 1
4-187539563-C-A c.8177G>T p.R2726L Missense 10/27 - 1
4-187539563-C-T c.8177G>A p.R2726Q Missense 10/27 - 1
4-187539564-G-A c.8176C>T p.R2726* Nonsense 10/27 - 23
4-187539565-G-A c.8175C>T p.I2725= Synonymous 10/27 - 4
4-187539565-G-C c.8175C>G p.I2725M Missense 10/27 - 1
4-187539570-G-C c.8170C>G p.L2724V Missense 10/27 - 1
4-187539572-T-C c.8168A>G p.D2723G Missense 10/27 - 1
4-187539588-T-A c.8152A>T p.I2718F Missense 10/27 - 1
4-187539588-T-C c.8152A>G p.I2718V Missense 10/27 - 14
4-187539591-G-A c.8149C>T p.P2717S Missense 10/27 - 2
4-187539594-C-A c.8146G>T p.V2716L Missense 10/27 - 2
4-187539594-C-T c.8146G>A p.V2716M Missense 10/27 - 3
4-187539595-G-A c.8145C>T p.D2715= Synonymous 10/27 - 3
4-187539596-T-A c.8144A>T p.D2715V Missense 10/27 - 2
4-187539597-C-A c.8143G>T p.D2715Y Missense 10/27 - 1
4-187539598-C-A c.8142G>T p.E2714D Missense 10/27 - 2
4-187539598-C-G c.8142G>C p.E2714D Missense 10/27 - 1
4-187539599-T-A c.8141A>T p.E2714V Missense 10/27 - 1
4-187539600-C-G c.8140G>C p.E2714Q Missense 10/27 - 1
4-187539602-G-A c.8138C>T p.S2713L Missense 10/27 - 2
4-187539602-G-C c.8138C>G p.S2713* Nonsense 10/27 - 5
4-187539602-G-T c.8138C>A p.S2713* Nonsense 10/27 - 2
4-187539605-A-G c.8135T>C p.V2712A Missense 10/27 - 1
4-187539606-C-A c.8134G>T p.V2712L Missense 10/27 - 3
4-187539606-C-G c.8134G>C p.V2712L Missense 10/27 - 5
4-187539610-A-C c.8130T>G p.F2710L Missense 10/27 - 1
4-187539611-A-C c.8129T>G p.F2710C Missense 10/27 - 1
4-187539611-A-G c.8129T>C p.F2710S Missense 10/27 - 1
4-187539614-G-C c.8126C>G p.T2709S Missense 10/27 - 2
4-187539617-T-C c.8123A>G p.Y2708C Missense 10/27 - 1
4-187539618-A-G c.8122T>C p.Y2708H Missense 10/27 - 1
4-187539623-G-A c.8117C>T p.P2706L Missense 10/27 - 1
4-187539624-G-A c.8116C>T p.P2706S Missense 10/27 - 2
4-187539627-C-A c.8113G>T p.E2705* Nonsense 10/27 - 2
4-187539628-TG-AA c.8111_8112delinsTT p.S2704F Missense 10/27 - 1
4-187539629-G-A c.8111C>T p.S2704L Missense 10/27 - 1
4-187539635-T-G c.8105A>C p.K2702T Missense 10/27 - 1
4-187539636-T-G c.8104A>C p.K2702Q Missense 10/27 - 1
4-187539643-C-T c.8097G>A p.Q2699= Synonymous 10/27 - 1
4-187539645-G-A c.8095C>T p.Q2699* Nonsense 10/27 - 1
4-187539645-G-C c.8095C>G p.Q2699E Missense 10/27 - 1
4-187539647-AT-A c.8092del p.M2698Cfs*25 Frameshift 10/27 - 1
4-187539651-C-A c.8089G>T p.E2697* Nonsense 10/27 - 6
4-187539652-C-T c.8088G>A p.P2696= Synonymous 10/27 - 2
4-187539653-G-A c.8087C>T p.P2696L Missense 10/27 - 4
4-187539660-G-A c.8080C>T p.L2694F Missense 10/27 - 3
4-187539661-G-A c.8079C>T p.I2693= Synonymous 10/27 - 2
4-187539661-G-T c.8079C>A p.I2693= Synonymous 10/27 - 1
4-187539671-T-C c.8069A>G p.Y2690C Missense 10/27 - 1
4-187539677-AG-CT c.8062_8063inv p.L2688S Missense 10/27 - 1
4-187539676-AAGAAC-A c.8059_8063del p.V2687Cfs*4 Frameshift 10/27 - 1
4-187539686-G-A