DNAH5

DNAH5 dynein axonemal heavy chain 5

Annotation transcript: NM_001369.3

8236 unique variant annotations were identified in 1356 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-13690974-A-G c.*1119T>C - 3-UTRSNV 79/79 - 1
5-13690974-A-T c.*1119T>A - 3-UTRSNV 79/79 - 1
5-13691045-T-C c.*1048A>G - 3-UTRSNV 79/79 - 4
5-13692009-G-A c.*84C>T - 3-UTRSNV 79/79 - 1
5-13692095-A-C c.13873T>G p.*4625Eext*16 Missense 79/79 - 1
5-13692103-T-A c.13865A>T p.D4622V Missense 79/79 - 2
5-13692106-C-T c.13862G>A p.C4621Y Missense 79/79 - 1
5-13692108-C-A c.13860G>T p.L4620= Synonymous 79/79 - 1
5-13692108-C-G c.13860G>C p.L4620= Synonymous 79/79 - 1
5-13692108-C-T c.13860G>A p.L4620= Synonymous 79/79 - 1
5-13692110-G-A c.13858C>T p.L4620= Synonymous 79/79 - 1
5-13692113-G-T c.13855C>A p.L4619I Missense 79/79 - 1
5-13692114-G-A c.13854C>T p.A4618= Synonymous 79/79 - 1
5-13692116-C-A c.13852G>T p.A4618S Missense 79/79 - 1
5-13692117-A-G c.13851T>C p.V4617= Synonymous 79/79 - 1
5-13692118-A-G c.13850T>C p.V4617A Missense 79/79 - 1
5-13692121-C-G c.13847G>C p.G4616A Missense 79/79 - 2
5-13692122-C-G c.13846G>C p.G4616R Missense 79/79 - 3
5-13692122-C-T c.13846G>A p.G4616R Missense 79/79 - 6
5-13692124-C-A c.13844G>T p.R4615L Missense 79/79 - 2
5-13692124-C-T c.13844G>A p.R4615H Missense 79/79 - 5
5-13692125-G-A c.13843C>T p.R4615C Missense 79/79 - 10
5-13692129-C-A c.13839G>T p.V4613= Synonymous 79/79 - 1
5-13692129-C-G c.13839G>C p.V4613= Synonymous 79/79 - 1
5-13692129-C-T c.13839G>A p.V4613= Synonymous 79/79 - 1
5-13692131-C-T c.13837G>A p.V4613M Missense 79/79 - 1
5-13692142-G-A c.13826C>T p.P4609L Missense 79/79 - 3
5-13692145-G-A c.13823C>T p.T4608I Missense 79/79 - 1
5-13692150-G-T c.13818C>A p.A4606= Synonymous 79/79 - 4
5-13692151-G-A c.13817C>T p.A4606V Missense 79/79 - 1
5-13692151-G-T c.13817C>A p.A4606D Missense 79/79 - 1
5-13692152-C-A c.13816G>T p.A4606S Missense 79/79 - 1
5-13692152-C-T c.13816G>A p.A4606T Missense 79/79 - 4
5-13692155-T-C c.13813A>G p.T4605A Missense 79/79 - 2
5-13692156-C-T c.13812G>A p.R4604= Synonymous 79/79 - 2
5-13692157-C-T c.13811G>A p.R4604K Missense 79/79 - 1
5-13692159-G-A c.13809C>T p.L4603= Synonymous 79/79 - 2
5-13692161-G-A c.13807C>T p.L4603F Missense 79/79 - 3
5-13692162-A-C c.13806T>G p.D4602E Missense 79/79 - 1
5-13692162-A-T c.13806T>A p.D4602E Missense 79/79 - 2
5-13692164-C-T c.13804G>A p.D4602N Missense 79/79 - 2
5-13692171-G-A c.13797C>T p.A4599= Synonymous 79/79 - 1
5-13692172-G-C c.13796C>G p.A4599G Missense 79/79 - 2
5-13692173-C-A c.13795G>T p.A4599S Missense 79/79 - 1
5-13692178-T-C c.13790A>G p.Y4597C Missense 79/79 - 5
5-13692181-T-C c.13787A>G p.N4596S Missense 79/79 - 1
5-13692188-C-T c.13780G>A p.D4594N Missense 79/79 - 9
5-13692189-C-A c.13779G>T p.T4593= Synonymous 79/79 - 1
5-13692189-C-G c.13779G>C p.T4593= Synonymous 79/79 - 1
5-13692189-C-T c.13779G>A p.T4593= Synonymous 79/79 - 1
5-13692190-G-A c.13778C>T p.T4593M Missense 79/79 - 4
5-13692191-T-A c.13777A>T p.T4593S Missense 79/79 - 2
5-13692193-C-T c.13775G>A p.R4592Q Missense 79/79 - 15
5-13692192-T-A c.13776A>T p.R4592= Synonymous 79/79 - 1
5-13692192-T-C c.13776A>G p.R4592= Synonymous 79/79 - 1
5-13692192-T-G c.13776A>C p.R4592= Synonymous 79/79 - 1
5-13692194-G-A c.13774C>T p.R4592* Nonsense 79/79 - 22
5-13692194-G-C c.13774C>G p.R4592G Missense 79/79 - 2
5-13692194-G-T c.13774C>A p.R4592= Synonymous 79/79 - 1
5-13692204-C-T c.13764G>A p.K4588= Synonymous 79/79 - 2
5-13692205-T-C c.13763A>G p.K4588R Missense 79/79 - 5
5-13692207-A-G c.13761T>C p.Y4587= Synonymous 79/79 - 2
5-13692211-A-G c.13757T>C p.I4586T Missense 79/79 - 3
5-13692229-C-T c.13739G>A p.R4580Q Missense 79/79 - 4
5-13692230-G-A c.13738C>T p.R4580W Missense 79/79 - 7
5-13692232-G-A c.13736C>T p.P4579L Missense 79/79 - 1
5-13692233-G-A c.13735C>T p.P4579S Missense 79/79 - 6
5-13692233-G-C c.13735C>G p.P4579A Missense 79/79 - 2
5-13692236-C-T c.13732G>A p.D4578N Missense 79/79 - 5
5-13692238-C-A c.13730G>T p.R4577L Missense 79/79 - 1
5-13692238-C-T c.13730G>A p.R4577Q Missense 79/79 - 7
5-13692239-G-A c.13729C>T p.R4577* Nonsense 79/79 - 5
5-13692241-A-G c.13727T>C p.L4576S Missense 79/79 - 3
5-13692243-A-T c.13725T>A p.T4575= Synonymous 79/79 - 1
5-13692244-G-C c.13724C>G p.T4575S Missense 79/79 - 1
5-13700749-T-A c.13723A>T p.T4575S Missense 78/79 - 1
5-13692279-A-T c.13724-35T>A - IntronicSNV - 78/78 6
5-13700749-T-C c.13723A>G p.T4575A Missense 78/79 - 1
5-13700752-T-G c.13720A>C p.N4574H Missense 78/79 - 3
5-13700754-T-C c.13718A>G p.N4573S Missense 78/79 - 1
5-13700756-T-A c.13716A>T p.E4572D Missense 78/79 - 3
5-13700758-C-G c.13714G>C p.E4572Q Missense 78/79 - 1
5-13700760-G-A c.13712C>T p.A4571V Missense 78/79 - 1
5-13700765-A-C c.13707T>G p.I4569M Missense 78/79 - 2
5-13700767-T-A c.13705A>T p.I4569F Missense 78/79 - 2
5-13700768-C-T c.13704G>A p.R4568= Synonymous 78/79 - 4
5-13700772-A-T c.13700T>A p.I4567K Missense 78/79 - 1
5-13700779-G-A c.13693C>T p.P4565S Missense 78/79 - 2
5-13700779-G-T c.13693C>A p.P4565T Missense 78/79 - 2
5-13700783-C-G c.13689G>C p.L4563F Missense 78/79 - 1
5-13700786-C-A c.13686G>T p.E4562D Missense 78/79 - 1
5-13700786-C-G c.13686G>C p.E4562D Missense 78/79 - 1
5-13700787-T-C c.13685A>G p.E4562G Missense 78/79 - 1
5-13700790-A-T c.13682T>A p.F4561Y Missense 78/79 - 6
5-13700792-G-A c.13680C>T p.L4560= Synonymous 78/79 - 1
5-13700796-A-G c.13676T>C p.V4559A Missense 78/79 - 4
5-13700797-C-A c.13675G>T p.V4559L Missense 78/79 - 1
5-13700800-T-C c.13672A>G p.K4558E Missense 78/79 - 3
5-13700803-G-T c.13669C>A p.P4557T Missense 78/79 - 1
5-13700808-G-C c.13664C>G p.S4555* Nonsense 78/79 - 1
5-13700811-T-C c.13661A>G p.E4554G Missense 78/79 - 1
5-13700812-C-T c.13660G>A p.E4554K Missense 78/79 - 2
5-13700828-C-T c.13644G>A p.R4548= Synonymous 78/79 - 2
5-13700829-C-A c.13643G>T p.R4548M Missense 78/79 - 2
5-13700830-T-A c.13642A>T p.R4548W Missense 78/79 - 1
5-13700833-T-C c.13639A>G p.K4547E Missense 78/79 - 1
5-13700836-C-T c.13636G>A p.D4546N Missense 78/79 - 1
5-13700837-C-T c.13635G>A p.W4545* Nonsense 78/79 - 3
5-13700838-C-A c.13634G>T p.W4545L Missense 78/79 - 1
5-13700839-A-G c.13633T>C p.W4545R Missense 78/79 - 2
5-13700839-A-T c.13633T>A p.W4545R Missense 78/79 - 1
5-13700841-C-T c.13631G>A p.G4544D Missense 78/79 - 2
5-13700847-C-G c.13625G>C p.G4542A Missense 78/79 - 2
5-13700847-C-T c.13625G>A p.G4542D Missense 78/79 - 1
5-13700848-C-T c.13624G>A p.G4542S Missense 78/79 - 1
5-13700853-A-C c.13619T>G p.L4540R Missense 78/79 - 1
5-13700854-G-A c.13618C>T p.L4540F Missense 78/79 - 3
5-13700857-A-G c.13615T>C p.Y4539H Missense 78/79 - 1
5-13700862-C-T c.13610G>A p.G4537D Missense 78/79 - 4
5-13700865-T-C c.13607A>G p.Y4536C Missense 78/79 - 2
5-13700867-G-A c.13605C>T p.V4535= Synonymous 78/79 - 3
5-13700867-G-C c.13605C>G p.V4535= Synonymous 78/79 - 2
5-13700867-G-T c.13605C>A p.V4535= Synonymous 78/79 - 2
5-13700871-T-A c.13601A>T p.Y4534F Missense 78/79 - 1
5-13700871-T-C c.13601A>G p.Y4534C Missense 78/79 - 2
5-13700872-A-G c.13600T>C p.Y4534H Missense 78/79 - 1
5-13700875-C-T c.13597G>A p.V4533I Missense 78/79 - 1
5-13700881-C-A c.13591G>T p.E4531* Nonsense 78/79 - 1
5-13700881-C-T c.13591G>A p.E4531K Missense 78/79 - 2
5-13700886-G-C c.13586C>G p.P4529R Missense 78/79 - 1
5-13700884-TG-T c.13587del p.T4530Qfs*21 Frameshift 78/79 - 1
5-13700887-G-C c.13585C>G p.P4529A Missense 78/79 - 1
5-13700889-G-A c.13583C>T p.P4528L Missense 78/79 - 1
5-13700892-G-A c.13580C>T p.A4527V Missense 78/79 - 1
5-13700892-G-T c.13580C>A p.A4527D Missense 78/79 - 3
5-13700893-C-G c.13579G>C p.A4527P Missense 78/79 - 2
5-13700893-C-T c.13579G>A p.A4527T Missense 78/79 - 4
5-13700894-A-G c.13578T>C p.S4526= Synonymous 78/79 - 1
5-13700897-A-T c.13575T>A p.I4525= Synonymous 78/79 - 3
5-13700899-T-A c.13573A>T p.I4525F Missense 78/79 - 1
5-13700902-C-T c.13570G>A p.D4524N Missense 78/79 - 7
5-13700903-G-A c.13569C>T p.D4523= Synonymous 78/79 - 2
5-13700903-G-C c.13569C>G p.D4523E Missense 78/79 - 1
5-13700903-G-T c.13569C>A p.D4523E Missense 78/79 - 2
5-13700904-T-C c.13568A>G p.D4523G Missense 78/79 - 2
5-13700912-C-T c.13560G>A p.W4520* Nonsense 78/79 - 5
5-13700913-C-T c.13559G>A p.W4520* Nonsense 78/79 - 3
5-13700914-A-G c.13558T>C p.W4520R Missense 78/79 - 1
5-13700914-A-T c.13558T>A p.W4520R Missense 78/79 - 1
5-13700914-ATTTGGTGACTTCATTGCAAAGCACCATATTGTCCAGAGCCCAGCCTTTGTTGGCCCGAG-A c.13499_13557del p.T4500Mfs*22 Multi:SpliceDonorDeletion,SpliceAcceptorDeletion 78/79 - 1
5-13700917-T-C c.13555A>G p.K4519E Missense 78/79 - 1
5-13700919-G-A c.13553C>T p.T4518I Missense 78/79 - 4
5-13700922-A-G c.13550T>C p.V4517A Missense 78/79 - 1
5-13700924-T-A c.13548A>T p.E4516D Missense 78/79 - 2
5-13700924-T-C c.13548A>G p.E4516= Synonymous 78/79 - 1
5-13700924-T-G c.13548A>C p.E4516D Missense 78/79 - 2
5-13700926-C-CT c.13545_13546insA p.E4516Rfs*26 Frameshift 78/79 - 1
5-13700926-C-T c.13546G>A p.E4516K Missense 78/79 - 6
5-13700929-T-A c.13543A>T p.N4515Y Missense 78/79 - 1
5-13700929-T-C c.13543A>G p.N4515D Missense 78/79 - 1
5-13700931-C-T c.13541G>A p.C4514Y Missense 78/79 - 1
5-13700934-A-C c.13538T>G p.L4513R Missense 78/79 - 1
5-13700935-G-A c.13537C>T p.L4513F Missense 78/79 - 7
5-13700936-C-A c.13536G>T p.V4512= Synonymous 78/79 - 1
5-13700936-C-G c.13536G>C p.V4512= Synonymous 78/79 - 1
5-13700936-C-T c.13536G>A p.V4512= Synonymous 78/79 - 1
5-13700940-A-G c.13532T>C p.M4511T Missense 78/79 - 1
5-13700940-A-T c.13532T>A p.M4511K Missense 78/79 - 1
5-13700941-T-C c.13531A>G p.M4511V Missense 78/79 - 2
5-13700944-T-TA c.13527_13528insT p.N4510* Nonsense 78/79 - 1
5-13700945-G-T c.13527C>A p.D4509E Missense 78/79 - 1
5-13700946-T-A c.13526A>T p.D4509V Missense 78/79 - 1
5-13700948-C-A c.13524G>T p.L4508= Synonymous 78/79 - 1
5-13700948-C-G c.13524G>C p.L4508= Synonymous 78/79 - 1
5-13700948-C-T c.13524G>A p.L4508= Synonymous 78/79 - 1
5-13700950-G-A c.13522C>T p.L4508= Synonymous 78/79 - 3
5-13700953-C-T c.13519G>A p.A4507T Missense 78/79 - 6
5-13700954-C-T c.13518G>A p.W4506* Nonsense 78/79 - 2
5-13700955-C-T c.13517G>A p.W4506* Nonsense 78/79 - 1
5-13700959-C-A c.13513G>T p.G4505C Missense 78/79 - 1
5-13700959-C-T c.13513G>A p.G4505S Missense 78/79 - 5
5-13700962-T-C c.13510A>G p.K4504E Missense 78/79 - 1
5-13700969-C-A c.13503G>T p.R4501= Synonymous 78/79 - 1
5-13700970-C-A c.13502G>T p.R4501L Missense 78/79 - 4
5-13700970-C-T c.13502G>A p.R4501Q Missense 78/79 - 1
5-13700971-G-A c.13501C>T p.R4501W Missense 78/79 - 1
5-13700973-G-C c.13499C>G p.T4500S Missense 78/79 - 1
5-13700973-GT-G c.13498del p.T4500Lfs*22 Frameshift 78/79 - 1
5-13700979-T-A c.13493A>T p.E4498V Missense 78/79 - 2
5-13700980-C-T c.13492G>A p.E4498K Missense 78/79 - 10
5-13700995-A-G c.13492-15T>C - IntronicSNV - 77/78 1
5-13701011-G-A c.13492-31C>T - IntronicSNV - 77/78 1
5-13701167-A-C c.13492-187T>G - IntronicSNV - 77/78 3
5-13701167-A-G c.13492-187T>C - IntronicSNV - 77/78 3
5-13701167-A-T c.13492-187T>A - IntronicSNV - 77/78 3
5-13701327-A-G c.13491+66T>C - IntronicSNV - 77/78 4
5-13701365-C-T c.13491+28G>A - IntronicSNV - 77/78 1
5-13701383-G-T c.13491+10C>A - IntronicSNV - 77/78 1
5-13701395-G-C c.13489C>G p.Q4497E Missense 77/79 - 2
5-13701397-C-T c.13487G>A p.R4496Q Missense 77/79 - 2
5-13701396-T-A c.13488A>T p.R4496= Synonymous 77/79 - 1
5-13701396-T-C c.13488A>G p.R4496= Synonymous 77/79 - 1
5-13701396-T-G c.13488A>C p.R4496= Synonymous 77/79 - 1
5-13701398-G-A c.13486C>T p.R4496* Nonsense 77/79 - 15
5-13701398-G-T c.13486C>A p.R4496= Synonymous 77/79 - 1
5-13701399-C-A c.13485G>T p.M4495I Missense 77/79 - 2
5-13701399-C-G c.13485G>C p.M4495I Missense 77/79 - 2
5-13701399-C-T c.13485G>A p.M4495I Missense 77/79 - 3
5-13701400-A-G c.13484T>C p.M4495T Missense 77/79 - 4
5-13701401-T-C c.13483A>G p.M4495V Missense 77/79 - 1
5-13701402-T-C c.13482A>G p.A4494= Synonymous 77/79 - 1
5-13701402-T-G c.13482A>C p.A4494= Synonymous 77/79 - 1
5-13701403-G-A c.13481C>T p.A4494V Missense 77/79 - 1
5-13701404-C-A c.13480G>T p.A4494S Missense 77/79 - 1
5-13701407-T-C c.13477A>G p.T4493A Missense 77/79 - 2
5-13701408-T-A c.13476A>T p.L4492F Missense 77/79 - 1
5-13701408-T-G c.13476A>C p.L4492F Missense 77/79 - 1
5-13701409-A-G c.13475T>C p.L4492S Missense 77/79 - 2
5-13701408-TAAAAATCCCTGGGGGTTAA-T c.13457_13475del p.F4486* Frameshift 77/79 - 1
5-13701414-T-A c.13470A>T p.G4490= Synonymous 77/79 - 1
5-13701414-T-C c.13470A>G p.G4490= Synonymous 77/79 - 1
5-13701414-T-G c.13470A>C p.G4490= Synonymous 77/79 - 1
5-13701415-C-T c.13469G>A p.G4490E Missense 77/79 - 9
5-13701416-C-G c.13468G>C p.G4490R Missense 77/79 - 1
5-13701416-C-T c.13468G>A p.G4490R Missense 77/79 - 7
5-13701417-C-A c.13467G>T p.Q4489H Missense 77/79 - 1
5-13701417-C-G c.13467G>C p.Q4489H Missense 77/79 - 1
5-13701417-C-T c.13467G>A p.Q4489= Synonymous 77/79 - 2
5-13701422-G-A c.13462C>T p.P4488S Missense 77/79 - 1
5-13701422-G-C c.13462C>G p.P4488A Missense 77/79 - 2
5-13701422-G-T c.13462C>A p.P4488T Missense 77/79 - 6
5-13701423-GTT-TTA c.13459_13461delinsTAA p.N4487* Nonsense 77/79 - 2
5-13701428-A-T c.13456T>A p.F4486I Missense 77/79 - 3
5-13701430-A-T c.13454T>A p.F4485Y Missense 77/79 - 5
5-13701425-TA-T c.13458del p.F4486Lfs*7 Frameshift 77/79 - 10
5-13701425-T-TA c.13458dup p.N4487* Nonsense 77/79 - 11
5-13701432-A-C c.13452T>G p.G4484= Synonymous 77/79 - 4
5-13701432-A-G c.13452T>C p.G4484= Synonymous 77/79 - 1
5-13701432-A-T c.13452T>A p.G4484= Synonymous 77/79 - 2
5-13701433-C-A c.13451G>T p.G4484V Missense 77/79 - 2
5-13701433-C-T c.13451G>A p.G4484D Missense 77/79 - 2
5-13701435-C-A c.13449G>T p.T4483= Synonymous 77/79 - 2
5-13701435-C-G c.13449G>C p.T4483= Synonymous 77/79 - 2
5-13701435-C-T c.13449G>A p.T4483= Synonymous 77/79 - 2
5-13701436-G-A c.13448C>T p.T4483M Missense 77/79 - 7
5-13701437-T-A c.13447A>T p.T4483S Missense 77/79 - 1
5-13701437-T-C c.13447A>G p.T4483A Missense 77/79 - 1
5-13701439-A-T c.13445T>A p.M4482K Missense 77/79 - 3
5-13701441-C-A c.13443G>T p.W4481C Missense 77/79 - 1
5-13701441-C-G c.13443G>C p.W4481C Missense 77/79 - 1
5-13701447-G-A c.13437C>T p.C4479= Synonymous 77/79 - 1
5-13701450-G-C c.13434C>G p.H4478Q Missense 77/79 - 1
5-13701450-G-T c.13434C>A p.H4478Q Missense 77/79 - 1
5-13701448-CAGTG-C c.13432_13435del p.H4478Afs*4 Frameshift 77/79 - 2
5-13701452-G-A c.13432C>T p.H4478Y Missense 77/79 - 1
5-13701456-TC-AT c.13427_13428delinsAT p.R4476H Missense 77/79 - 1
5-13701457-C-T c.13427G>A p.R4476Q Missense 77/79 - 2
5-13701458-G-A c.13426C>T p.R4476* Nonsense 77/79 - 4
5-13701461-C-T c.13423G>A p.G4475S Missense 77/79 - 2
5-13701465-G-A c.13419C>T p.F4473= Synonymous 77/79 - 6
5-13701475-G-A c.13409C>T p.S4470L Missense 77/79 - 5
5-13701487-C-T c.13397G>A p.S4466N Missense 77/79 - 1
5-13701492-T-A c.13392A>T p.R4464S Missense 77/79 - 1
5-13701492-T-G c.13392A>C p.R4464S Missense 77/79 - 1
5-13701493-C-T c.13391G>A p.R4464K Missense 77/79 - 2
5-13701495-T-C c.13389A>G p.E4463= Synonymous 77/79 - 2
5-13701497-C-A c.13387G>T p.E4463* Nonsense 77/79 - 1
5-13701497-C-T c.13387G>A p.E4463K Missense 77/79 - 2
5-13701500-T-C c.13384A>G p.I4462V Missense 77/79 - 1
5-13701502-A-C c.13382T>G p.L4461R Missense 77/79 - 2
5-13701502-A-G c.13382T>C p.L4461P Missense 77/79 - 1
5-13701506-C-T c.13378G>A p.E4460K Missense 77/79 - 3
5-13701520-C-A c.13364G>T p.G4455V Missense 77/79 - 3
5-13701520-C-T c.13364G>A p.G4455D Missense 77/79 - 4
5-13701521-C-G c.13363G>C p.G4455R Missense 77/79 - 1
5-13701523-A-C c.13361T>G p.L4454R Missense 77/79 - 2
5-13701525-T-A c.13359A>T p.T4453= Synonymous 77/79 - 1
5-13701525-T-C c.13359A>G p.T4453= Synonymous 77/79 - 15
5-13701525-T-G c.13359A>C p.T4453= Synonymous 77/79 - 1
5-13701526-G-A c.13358C>T p.T4453I Missense 77/79 - 1
5-13701529-C-T c.13355G>A p.S4452N Missense 77/79 - 2
5-13701531-A-C c.13353T>G p.S4451= Synonymous 77/79 - 2
5-13701531-A-G c.13353T>C p.S4451= Synonymous 77/79 - 2
5-13701531-A-T c.13353T>A p.S4451= Synonymous 77/79 - 2
5-13701532-G-C c.13352C>G p.S4451C Missense 77/79 - 4
5-13701533-A-T c.13351T>A p.S4451T Missense 77/79 - 1
5-13701534-A-G c.13350T>C p.I4450= Synonymous 77/79 - 1
5-13701536-T-C c.13348A>G p.I4450V Missense 77/79 - 33
5-13701538-C-T c.13346G>A p.W4449* Nonsense 77/79 - 1
5-13701541-G-C c.13343C>G p.S4448C Missense 77/79 - 1
5-13701543-A-C c.13341T>G p.A4447= Synonymous 77/79 - 1
5-13701543-A-G c.13341T>C p.A4447= Synonymous 77/79 - 1
5-13701543-A-T c.13341T>A p.A4447= Synonymous 77/79 - 1
5-13701654-T-A c.13339-109A>T - IntronicSNV - 76/78 2
5-13701654-T-C c.13339-109A>G - IntronicSNV - 76/78 2
5-13701699-G-A c.13339-154C>T - IntronicSNV - 76/78 2
5-13702676-C-A c.13339-1131G>T - IntronicSNV - 76/78 1
5-13703493-G-A c.13339-1948C>T - IntronicSNV - 76/78 1
5-13703880-G-A c.13339-2335C>T - IntronicSNV - 76/78 1
5-13708227-C-T c.13338+5G>A - IntronicSNV - 76/78 4
5-13708234-T-C c.13336A>G p.K4446E Missense 76/79 - 2
5-13708231-CT-C c.13338del p.A4447Lfs*16 Frameshift 76/79 - 1
5-13708237-T-C c.13333A>G p.K4445E Missense 76/79 - 1
5-13708238-C-T c.13332G>A p.W4444* Nonsense 76/79 - 1
5-13708239-C-T c.13331G>A p.W4444* Nonsense 76/79 - 2
5-13708242-C-T c.13328G>A p.W4443* Nonsense 76/79 - 6
5-13708246-C-T c.13324G>A p.A4442T Missense 76/79 - 1
5-13708248-G-A c.13322C>T p.P4441L Missense 76/79 - 2
5-13708249-G-A c.13321C>T p.P4441S Missense 76/79 - 2
5-13708250-G-A c.13320C>T p.I4440= Synonymous 76/79 - 4
5-13708254-C-G c.13316G>C p.R4439T Missense 76/79 - 1
5-13708255-T-C c.13315A>G p.R4439G Missense 76/79 - 2
5-13708257-G-T c.13313C>A p.A4438D Missense 76/79 - 1
5-13708258-C-A c.13312G>T p.A4438S Missense 76/79 - 1
5-13708259-A-G c.13311T>C p.D4437= Synonymous 76/79 - 1
5-13708261-C-CA c.13308dup p.D4437* Nonsense 76/79 - 1
5-13708265-C-T c.13305G>A p.M4435I Missense 76/79 - 1
5-13708273-C-T c.13297G>A p.D4433N Missense 76/79 - 7
5-13708274-C-T c.13296G>A p.L4432= Synonymous 76/79 - 2
5-13708276-A-G c.13294T>C p.L4432= Synonymous 76/79 - 1
5-13708279-C-T c.13291G>A p.A4431T Missense 76/79 - 1
5-13708284-C-T c.13286G>A p.R4429Q Missense 76/79 - 12
5-13708283-T-A c.13287A>T p.R4429= Synonymous 76/79 - 2
5-13708283-T-C c.13287A>G p.R4429= Synonymous 76/79 - 1
5-13708283-T-G c.13287A>C p.R4429= Synonymous 76/79 - 1
5-13708285-G-A c.13285C>T p.R4429* Nonsense 76/79 - 2
5-13708285-G-T c.13285C>A p.R4429= Synonymous 76/79 - 1
5-13708286-C-A c.13284G>T p.L4428= Synonymous 76/79 - 5
5-13708286-C-G c.13284G>C p.L4428= Synonymous 76/79 - 4
5-13708286-C-T c.13284G>A p.L4428= Synonymous 76/79 - 4
5-13708288-G-A c.13282C>T p.L4428= Synonymous 76/79 - 5
5-13708292-T-A c.13278A>T p.E4426D Missense 76/79 - 1
5-13708292-T-G c.13278A>C p.E4426D Missense 76/79 - 1
5-13708294-C-T c.13276G>A p.E4426K Missense 76/79 - 15
5-13708295-G-A c.13275C>T p.S4425= Synonymous 76/79 - 4
5-13708295-G-C c.13275C>G p.S4425R Missense 76/79 - 1
5-13708295-G-T c.13275C>A p.S4425R Missense 76/79 - 1
5-13708297-T-G c.13273A>C p.S4425R Missense 76/79 - 1
5-13708301-G-A c.13269C>T p.I4423= Synonymous 76/79 - 3
5-13708301-G-T c.13269C>A p.I4423= Synonymous 76/79 - 1
5-13708305-A-G c.13265T>C p.I4422T Missense 76/79 - 3
5-13708311-C-G c.13259G>C p.G4420A Missense 76/79 - 1
5-13708314-T-C c.13256A>G p.D4419G Missense 76/79 - 1
5-13708315-C-G c.13255G>C p.D4419H Missense 76/79 - 1
5-13708318-T-C c.13252A>G p.I4418V Missense 76/79 - 1
5-13708328-C-T c.13242G>A p.L4414= Synonymous 76/79 - 1
5-13708331-C-T c.13239G>A p.E4413= Synonymous 76/79 - 2
5-13708337-G-A c.13233C>T p.L4411= Synonymous 76/79 - 4
5-13708337-G-C c.13233C>G p.L4411= Synonymous 76/79 - 3
5-13708337-G-T c.13233C>A p.L4411= Synonymous 76/79 - 3
5-13708339-G-C c.13231C>G p.L4411V Missense 76/79 - 1
5-13708340-G-A c.13230C>T p.T4410= Synonymous 76/79 - 4
5-13708341-G-A c.13229C>T p.T4410I Missense 76/79 - 1
5-13708341-G-C c.13229C>G p.T4410S Missense 76/79 - 1
5-13708345-T-C c.13225A>G p.S4409G Missense 76/79 - 1
5-13708346-G-A c.13224C>T p.R4408= Synonymous 76/79 - 1
5-13708346-G-C c.13224C>G p.R4408= Synonymous 76/79 - 1
5-13708346-G-T c.13224C>A p.R4408= Synonymous 76/79 - 1
5-13708347-C-T c.13223G>A p.R4408H Missense 76/79 - 1
5-13708348-G-A c.13222C>T p.R4408C Missense 76/79 - 5
5-13708348-G-C c.13222C>G p.R4408G Missense 76/79 - 1
5-13708353-A-T c.13217T>A p.L4406H Missense 76/79 - 2
5-13708356-C-T c.13214G>A p.S4405N Missense 76/79 - 3
5-13708358-G-A c.13212C>T p.L4404= Synonymous 76/79 - 1
5-13708358-G-C c.13212C>G p.L4404= Synonymous 76/79 - 1
5-13708358-G-T c.13212C>A p.L4404= Synonymous 76/79 - 1
5-13708360-G-A c.13210C>T p.L4404F Missense 76/79 - 1
5-13708363-C-A c.13207G>T p.V4403L Missense 76/79 - 1
5-13708363-C-G c.13207G>C p.V4403L Missense 76/79 - 1
5-13708363-C-T c.13207G>A p.V4403I Missense 76/79 - 1
5-13708365-C-T c.13205G>A p.R4402K Missense 76/79 - 1
5-13708371-A-G c.13199T>C p.M4400T Missense 76/79 - 1
5-13708372-TTCTG-T c.13194_13197del p.D4398Efs*16 Frameshift 76/79 - 5
5-13708376-G-C c.13194C>G p.D4398E Missense 76/79 - 1
5-13708376-G-T c.13194C>A p.D4398E Missense 76/79 - 1
5-13708384-C-T c.13186G>A p.E4396K Missense 76/79 - 5
5-13708385-C-A c.13185G>T p.Q4395H Missense 76/79 - 1
5-13708391-G-A c.13179C>T p.L4393= Synonymous 76/79 - 1
5-13708391-G-C c.13179C>G p.L4393= Synonymous 76/79 - 1
5-13708391-G-T c.13179C>A p.L4393= Synonymous 76/79 - 1
5-13708393-G-A c.13177C>T p.L4393F Missense 76/79 - 2
5-13708394-G-A c.13176C>T p.F4392= Synonymous 76/79 - 4
5-13708395-A-C c.13175T>G p.F4392C Missense 76/79 - 7
5-13708396-A-G c.13174T>C p.F4392L Missense 76/79 - 1
5-13708398-A-T c.13172T>A p.I4391N Missense 76/79 - 1
5-13708400-G-A c.13170C>T p.N4390= Synonymous 76/79 - 2
5-13708403-C-A c.13167G>T p.M4389I Missense 76/79 - 4
5-13708403-C-G c.13167G>C p.M4389I Missense 76/79 - 2
5-13708403-C-T c.13167G>A p.M4389I Missense 76/79 - 6
5-13708412-G-A c.13158C>T p.F4386= Synonymous 76/79 - 4
5-13708415-T-C c.13155A>G p.P4385= Synonymous 76/79 - 1
5-13708417-G-A c.13153C>T p.P4385S Missense 76/79 - 3
5-13708418-C-A c.13152G>T p.G4384= Synonymous 76/79 - 1
5-13708418-C-G c.13152G>C p.G4384= Synonymous 76/79 - 1
5-13708418-C-T c.13152G>A p.G4384= Synonymous 76/79 - 1
5-13708419-C-A c.13151G>T p.G4384V Missense 76/79 - 2
5-13708421-C-A c.13149G>T p.M4383I Missense 76/79 - 1
5-13708421-C-G c.13149G>C p.M4383I Missense 76/79 - 1
5-13708421-C-T c.13149G>A p.M4383I Missense 76/79 - 1
5-13708424-C-A c.13146G>T p.K4382N Missense 76/79 - 2
5-13708424-C-G c.13146G>C p.K4382N Missense 76/79 - 4
5-13708425-T-A c.13145A>T p.K4382M Missense 76/79 - 1
5-13708425-T-G c.13145A>C p.K4382T Missense 76/79 - 1
5-13708426-T-A c.13144A>T p.K4382* Nonsense 76/79 - 1
5-13708427-C-A c.13143G>T p.Q4381H Missense 76/79 - 1
5-13708429-G-A c.13141C>T p.Q4381* Nonsense 76/79 - 2
5-13708432-G-T c.13138C>A p.L4380M Missense 76/79 - 1
5-13708437-T-G c.13133A>C p.E4378A Missense 76/79 - 1
5-13708438-C-A c.13132G>T p.E4378* Nonsense 76/79 - 1
5-13708438-C-T c.13132G>A p.E4378K Missense 76/79 - 7
5-13708443-A-C c.13127T>G p.V4376G Missense 76/79 - 3
5-13708443-A-G c.13127T>C p.V4376A Missense 76/79 - 3
5-13714085-A-T c.13125+429T>A - IntronicSNV - 75/78 1
5-13714427-T-C c.13125+87A>G - IntronicSNV - 75/78 1
5-13714513-C-T c.13125+1G>A - IntronicSNV - 75/78 1
5-13714520-G-A c.13119C>T p.P4373= Synonymous 75/79 - 5
5-13714520-G-C c.13119C>G p.P4373= Synonymous 75/79 - 1
5-13714520-G-T c.13119C>A p.P4373= Synonymous 75/79 - 2
5-13714521-G-A c.13118C>T p.P4373L Missense 75/79 - 1
5-13714521-G-T c.13118C>A p.P4373H Missense 75/79 - 1
5-13714522-G-A c.13117C>T p.P4373S Missense 75/79 - 6
5-13714533-TGGGGGC-T c.13101_13106del p.P4368_P4369del InFrameDeletion 75/79 - 1
5-13714535-G-A c.13104C>T p.P4368= Synonymous 75/79 - 2
5-13714535-G-C c.13104C>G p.P4368= Synonymous 75/79 - 1
5-13714535-G-T c.13104C>A p.P4368= Synonymous 75/79 - 1
5-13714537-G-A c.13102C>T p.P4368S Missense 75/79 - 1
5-13714543-T-A c.13096A>T p.K4366* Nonsense 75/79 - 1
5-13714549-G-C c.13090C>G p.L4364V Missense 75/79 - 1
5-13714550-C-A c.13089G>T p.M4363I Missense 75/79 - 3
5-13714550-C-G c.13089G>C p.M4363I Missense 75/79 - 2
5-13714550-C-T c.13089G>A p.M4363I Missense 75/79 - 2
5-13714555-C-A c.13084G>T p.D4362Y Missense 75/79 - 2
5-13714555-C-T c.13084G>A p.D4362N Missense 75/79 - 7
5-13714558-C-T c.13081G>A p.D4361N Missense 75/79 - 1
5-13714559-A-C c.13080T>G p.A4360= Synonymous 75/79 - 2
5-13714559-A-G c.13080T>C p.A4360= Synonymous 75/79 - 3
5-13714559-A-T c.13080T>A p.A4360= Synonymous 75/79 - 3
5-13714560-G-T c.13079C>A p.A4360D Missense 75/79 - 2
5-13714566-C-T c.13073G>A p.R4358Q Missense 75/79 - 3
5-13714567-G-A c.13072C>T p.R4358W Missense 75/79 - 7
5-13714568-G-A c.13071C>T p.A4357= Synonymous 75/79 - 1
5-13714569-G-A c.13070C>T p.A4357V Missense 75/79 - 2
5-13714570-C-G c.13069G>C p.A4357P Missense 75/79 - 1
5-13714572-A-T c.13067T>A p.V4356E Missense 75/79 - 1
5-13714575-A-G c.13064T>C p.V4355A Missense 75/79 - 1
5-13714577-C-A c.13062G>T p.A4354= Synonymous 75/79 - 1
5-13714577-C-G c.13062G>C p.A4354= Synonymous 75/79 - 1
5-13714577-C-T c.13062G>A p.A4354= Synonymous 75/79 - 1
5-13714578-G-A c.13061C>T p.A4354V Missense 75/79 - 4
5-13714578-G-C c.13061C>G p.A4354G Missense 75/79 - 1
5-13714578-GC-G c.13060del p.A4354Rfs*23 Frameshift 75/79 - 2
5-13714582-C-T c.13057G>A p.E4353K Missense 75/79 - 1
5-13714583-C-T c.13056G>A p.R4352= Synonymous 75/79 - 1
5-13714584-C-A c.13055G>T p.R4352L Missense 75/79 - 7
5-13714584-C-T c.13055G>A p.R4352Q Missense 75/79 - 1
5-13714585-G-A c.13054C>T p.R4352W Missense 75/79 - 5
5-13714586-G-A c.13053C>T p.T4351= Synonymous 75/79 - 1
5-13714586-G-C c.13053C>G p.T4351= Synonymous 75/79 - 1
5-13714586-G-T c.13053C>A p.T4351= Synonymous 75/79 - 1
5-13714587-G-A c.13052C>T p.T4351I Missense 75/79 - 1
5-13714587-G-T c.13052C>A p.T4351N Missense 75/79 - 1
5-13714589-C-T c.13050G>A p.E4350= Synonymous 75/79 - 3
5-13714591-C-T c.13048G>A p.E4350K Missense 75/79 - 1
5-13714594-C-A c.13045G>T p.D4349Y Missense 75/79 - 3
5-13714594-C-T c.13045G>A p.D4349N Missense 75/79 - 5
5-13714595-C-T c.13044G>A p.G4348= Synonymous 75/79 - 2
5-13714596-C-T c.13043G>A p.G4348E Missense 75/79 - 3
5-13714599-C-T c.13040G>A p.G4347E Missense 75/79 - 2
5-13714600-C-T c.13039G>A p.G4347R Missense 75/79 - 3
5-13714605-G-C c.13034C>G p.S4345C Missense 75/79 - 1
5-13714605-G-T c.13034C>A p.S4345Y Missense 75/79 - 1
5-13714611-T-C c.13028A>G p.D4343G Missense 75/79 - 1
5-13714612-C-T c.13027G>A p.D4343N Missense 75/79 - 4
5-13714613-C-A c.13026G>T p.K4342N Missense 75/79 - 1
5-13714613-C-T c.13026G>A p.K4342= Synonymous 75/79 - 2
5-13714614-T-A c.13025A>T p.K4342M Missense 75/79 - 3
5-13714617-G-A c.13022C>T p.P4341L Missense 75/79 - 1
5-13714617-G-C c.13022C>G p.P4341R Missense 75/79 - 2
5-13714623-A-T c.13016T>A p.I4339N Missense 75/79 - 1
5-13714624-T-A c.13015A>T p.I4339F Missense 75/79 - 1
5-13714630-G-A c.13009C>T p.L4337= Synonymous 75/79 - 4
5-13714631-G-C c.13008C>G p.I4336M Missense 75/79 - 1
5-13714632-A-T c.13007T>A p.I4336N Missense 75/79 - 1
5-13714634-G-A c.13005C>T p.T4335= Synonymous 75/79 - 2
5-13714634-G-C c.13005C>G p.T4335= Synonymous 75/79 - 2
5-13714634-GG-CA c.13004_13005delinsTG p.T4335M Missense 75/79 - 1
5-13714634-G-T c.13005C>A p.T4335= Synonymous 75/79 - 2
5-13714635-G-A c.13004C>T p.T4335I Missense 75/79 - 1
5-13714639-C-T c.13000G>A p.D4334N Missense 75/79 - 7
5-13714640-C-A c.12999G>T p.L4333= Synonymous 75/79 - 1
5-13714640-C-G c.12999G>C p.L4333= Synonymous 75/79 - 1
5-13714640-C-T c.12999G>A p.L4333= Synonymous 75/79 - 1
5-13714642-G-A c.12997C>T p.L4333= Synonymous 75/79 - 1
5-13714641-A-T c.12998T>A p.L4333Q Missense 75/79 - 5
5-13714644-A-T c.12995T>A p.V4332E Missense 75/79 - 1
5-13714645-C-T c.12994G>A p.V4332M Missense 75/79 - 1
5-13714649-C-T c.12990G>A p.K4330= Synonymous 75/79 - 2
5-13714657-G-A c.12982C>T p.L4328= Synonymous 75/79 - 2
5-13714668-T-G c.12971A>C p.Y4324S Missense 75/79 - 1
5-13714670-G-A c.12969C>T p.T4323= Synonymous 75/79 - 1
5-13714675-T-C c.12964A>G p.I4322V Missense 75/79 - 1
5-13714678-C-T c.12961G>A p.D4321N Missense 75/79 - 1
5-13714681-C-T c.12958G>A p.A4320T Missense 75/79 - 1
5-13714683-T-C c.12956A>G p.N4319S Missense 75/79 - 1
5-13714695-C-G c.12944G>C p.G4315A Missense 75/79 - 1
5-13714695-C-T c.12944G>A p.G4315E Missense 75/79 - 2
5-13714703-C-A c.12936G>T p.E4312D Missense 75/79 - 1
5-13714703-C-G c.12936G>C p.E4312D Missense 75/79 - 1
5-13714705-C-G c.12934G>C p.E4312Q Missense 75/79 - 1
5-13714706-A-C c.12933T>G p.P4311= Synonymous 75/79 - 1
5-13714706-A-G c.12933T>C p.P4311= Synonymous 75/79 - 1
5-13714706-A-T c.12933T>A p.P4311= Synonymous 75/79 - 1
5-13714707-G-A c.12932C>T p.P4311L Missense 75/79 - 1
5-13714708-G-T c.12931C>A p.P4311T Missense 75/79 - 2
5-13714710-C-T c.12929G>A p.S4310N Missense 75/79 - 5
5-13714716-T-C c.12923A>G p.Y4308C Missense 75/79 - 3
5-13714720-C-G c.12919G>C p.A4307P Missense 75/79 - 1
5-13714722-G-A c.12917C>T p.P4306L Missense 75/79 - 1
5-13714723-G-A c.12916C>T p.P4306S Missense 75/79 - 1
5-13714740-G-A c.12910-11C>T - IntronicSNV - 74/78 5
5-13716596-C-T c.12909G>A p.Q4303= Synonymous 74/79 - 1
5-13716600-A-G c.12905T>C p.I4302T Missense 74/79 - 4
5-13716603-T-C c.12902A>G p.Y4301C Missense 74/79 - 1
5-13716613-A-G c.12892T>C p.Y4298H Missense 74/79 - 1
5-13716615-T-C c.12890A>G p.N4297S Missense 74/79 - 2
5-13716618-T-C c.12887A>G p.D4296G Missense 74/79 - 1
5-13716619-C-T c.12886G>A p.D4296N Missense 74/79 - 3
5-13716621-A-C c.12884T>G p.V4295G Missense 74/79 - 1
5-13716622-C-T c.12883G>A p.V4295M Missense 74/79 - 2
5-13716625-T-C c.12880A>G p.T4294A Missense 74/79 - 1
5-13716637-G-A c.12868C>T p.P4290S Missense 74/79 - 4
5-13716645-T-C c.12860A>G p.Y4287C Missense 74/79 - 1
5-13716648-C-T c.12857G>A p.G4286E Missense 74/79 - 2
5-13716649-C-G c.12856G>C p.G4286R Missense 74/79 - 1
5-13716649-C-T c.12856G>A p.G4286R Missense 74/79 - 1
5-13716656-A-C c.12849T>G p.F4283L Missense 74/79 - 1
5-13716660-CT-AA c.12844_12845delinsTT p.S4282F Missense 74/79 - 1
5-13716662-G-A c.12843C>T p.F4281= Synonymous 74/79 - 4
5-13716663-A-G c.12842T>C p.F4281S Missense 74/79 - 1
5-13716668-T-G c.12837A>C p.P4279= Synonymous 74/79 - 1
5-13716672-C-A c.12833G>T p.G4278V Missense 74/79 - 1
5-13716672-C-T c.12833G>A p.G4278E Missense 74/79 - 1
5-13716673-C-T c.12832G>A p.G4278R Missense 74/79 - 1
5-13716674-A-G c.12831T>C p.F4277= Synonymous 74/79 - 1
5-13716674-A-C c.12831T>G p.F4277L Missense 74/79 - 3
5-13716674-A-T c.12831T>A p.F4277L Missense 74/79 - 3
5-13716676-A-G c.12829T>C p.F4277L Missense 74/79 - 4
5-13716678-A-G c.12827T>C p.M4276T Missense 74/79 - 2
5-13716684-T-C c.12821A>G p.E4274G Missense 74/79 - 1
5-13716685-C-T c.12820G>A p.E4274K Missense 74/79 - 1
5-13716692-C-T c.12813G>A p.W4271* Nonsense 74/79 - 1
5-13716697-C-A c.12808G>T p.V4270F Missense 74/79 - 1
5-13716697-C-T c.12808G>A p.V4270I Missense 74/79 - 3
5-13716698-C-T c.12807G>A p.K4269= Synonymous 74/79 - 2
5-13716702-G-A c.12803C>T p.A4268V Missense 74/79 - 1
5-13716715-A-G c.12790T>C p.L4264= Synonymous 74/79 - 1
5-13716727-C-T c.12778G>A p.D4260N Missense 74/79 - 4
5-13716730-A-G c.12775T>C p.Y4259H Missense 74/79 - 2
5-13716731-G-C c.12774C>G p.D4258E Missense 74/79 - 1
5-13716731-G-T c.12774C>A p.D4258E Missense 74/79 - 1
5-13716733-C-T c.12772G>A p.D4258N Missense 74/79 - 3
5-13716734-G-C c.12771C>G p.D4257E Missense 74/79 - 3
5-13716734-G-T c.12771C>A p.D4257E Missense 74/79 - 3
5-13716737-A-C c.12768T>G p.T4256= Synonymous 74/79 - 2
5-13716737-A-G c.12768T>C p.T4256= Synonymous 74/79 - 2
5-13716737-A-T c.12768T>A p.T4256= Synonymous 74/79 - 2
5-13716739-T-C c.12766A>G p.T4256A Missense 74/79 - 2
5-13716740-G-A c.12765C>T p.V4255= Synonymous 74/79 - 2
5-13716742-C-A c.12763G>T p.V4255F Missense 74/79 - 1
5-13716744-C-A c.12761G>T p.R4254I Missense 74/79 - 1
5-13716747-C-T c.12758G>A p.G4253D Missense 74/79 - 1
5-13716752-A-C c.12753T>G p.Y4251* Nonsense 74/79 - 1
5-13716752-A-T c.12753T>A p.Y4251* Nonsense 74/79 - 1
5-13716753-T-C c.12752A>G p.Y4251C Missense 74/79 - 1
5-13716756-T-A c.12749A>T p.Q4250L Missense 74/79 - 2
5-13716760-T-C c.12745A>G p.I4249V Missense 74/79 - 1
5-13716761-C-T c.12744G>A p.E4248= Synonymous 74/79 - 1
5-13716765-C-T c.12740G>A p.G4247E Missense 74/79 - 1
5-13716766-C-G c.12739G>C p.G4247R Missense 74/79 - 1
5-13716766-C-T c.12739G>A p.G4247R Missense 74/79 - 1
5-13716770-C-A c.12735G>T p.M4245I Missense 74/79 - 2
5-13716770-C-G c.12735G>C p.M4245I Missense 74/79 - 2
5-13716770-C-T c.12735G>A p.M4245I Missense 74/79 - 7
5-13716771-A-G c.12734T>C p.M4245T Missense 74/79 - 2
5-13716774-T-C c.12731A>G p.Y4244C Missense 74/79 - 4
5-13716777-C-T c.12728G>A p.R4243H Missense 74/79 - 6
5-13716778-G-A c.12727C>T p.R4243C Missense 74/79 - 4
5-13716778-G-T c.12727C>A p.R4243S Missense 74/79 - 1
5-13716779-G-A c.12726C>T p.I4242= Synonymous 74/79 - 1
5-13716779-G-T c.12726C>A p.I4242= Synonymous 74/79 - 1
5-13716780-A-G c.12725T>C p.I4242T Missense 74/79 - 1
5-13716783-G-C c.12722C>G p.T4241S Missense 74/79 - 1
5-13716788-C-T c.12717G>A p.W4239* Nonsense 74/79 - 1
5-13716789-C-T c.12716G>A p.W4239* Nonsense 74/79 - 1
5-13716792-G-A c.12713C>T p.S4238F Missense 74/79 - 4
5-13716792-G-T c.12713C>A p.S4238Y Missense 74/79 - 1
5-13716795-A-T c.12710T>A p.V4237D Missense 74/79 - 1
5-13716796-C-A c.12709G>T p.V4237F Missense 74/79 - 5
5-13716796-C-T c.12709G>A p.V4237I Missense 74/79 - 1
5-13716797-A-G c.12708T>C p.G4236= Synonymous 74/79 - 2
5-13716799-C-T c.12706G>A p.G4236S Missense 74/79 - 5
5-13717422-A-G c.12705+2T>C - IntronicSNV - 73/78 1
5-13717423-ACC-A c.12705_12705+1del - SpliceDonorDeletion 73/79 73/78 1
5-13717423-C-A c.12705+1G>T - IntronicSNV - 73/78 1
5-13717424-C-A c.12705G>T p.K4235N Missense 73/79 - 1
5-13717424-C-T c.12705G>A p.K4235= Synonymous 73/79 - 1
5-13717426-T-G c.12703A>C p.K4235Q Missense 73/79 - 3
5-13717435-C-T c.12694G>A p.D4232N Missense 73/79 - 3
5-13717437-A-G c.12692T>C p.M4231T Missense 73/79 - 1
5-13717437-A-T c.12692T>A p.M4231K Missense 73/79 - 2
5-13717441-C-T c.12688G>A p.D4230N Missense 73/79 - 6
5-13717442-A-C c.12687T>G p.D4229E Missense 73/79 - 1
5-13717442-A-T c.12687T>A p.D4229E Missense 73/79 - 1
5-13717443-T-A c.12686A>T p.D4229V Missense 73/79 - 1
5-13717444-C-T c.12685G>A p.D4229N Missense 73/79 - 3
5-13717460-G-A c.12669C>T p.F4223= Synonymous 73/79 - 4
5-13717462-A-C c.12667T>G p.F4223V Missense 73/79 - 1
5-13717471-T-C c.12658A>G p.T4220A Missense 73/79 - 28
5-13717472-G-A c.12657C>T p.A4219= Synonymous 73/79 - 1
5-13717472-G-C c.12657C>G p.A4219= Synonymous 73/79 - 1
5-13717472-G-T c.12657C>A p.A4219= Synonymous 73/79 - 1
5-13717477-T-C c.12652A>G p.N4218D Missense 73/79 - 1
5-13717480-A-T c.12649T>A p.F4217I Missense 73/79 - 2
5-13717482-T-A c.12647A>T p.D4216V Missense 73/79 - 1
5-13717483-C-T c.12646G>A p.D4216N Missense 73/79 - 4
5-13717484-C-A c.12645G>T p.A4215= Synonymous 73/79 - 3
5-13717484-C-G c.12645G>C p.A4215= Synonymous 73/79 - 2
5-13717484-C-T c.12645G>A p.A4215= Synonymous 73/79 - 4
5-13717485-G-A c.12644C>T p.A4215V Missense 73/79 - 5
5-13717489-G-C c.12640C>G p.Q4214E Missense 73/79 - 1
5-13717491-T-G c.12638A>C p.N4213T Missense 73/79 - 3
5-13717498-C-A c.12631G>T p.E4211* Nonsense 73/79 - 4
5-13717498-C-T c.12631G>A p.E4211K Missense 73/79 - 14
5-13717500-T-C c.12629A>G p.Y4210C Missense 73/79 - 1
5-13717501-A-G c.12628T>C p.Y4210H Missense 73/79 - 3
5-13717504-G-A c.12625C>T p.P4209S Missense 73/79 - 11
5-13717505-G-A c.12624C>T p.I4208= Synonymous 73/79 - 7
5-13717505-G-T c.12624C>A p.I4208= Synonymous 73/79 - 3
5-13717507-T-A c.12622A>T p.I4208F Missense 73/79 - 5
5-13717507-T-G c.12622A>C p.I4208L Missense 73/79 - 3
5-13717511-C-T c.12618G>A p.W4206* Nonsense 73/79 - 2
5-13717512-C-T c.12617G>A p.W4206* Nonsense 73/79 - 12
5-13717515-C-A c.12614G>T p.G4205V Missense 73/79 - 2
5-13717517-C-A c.12612G>T p.L4204= Synonymous 73/79 - 1
5-13717520-G-A c.12609C>T p.A4203= Synonymous 73/79 - 1
5-13717520-G-C c.12609C>G p.A4203= Synonymous 73/79 - 1
5-13717520-G-T c.12609C>A p.A4203= Synonymous 73/79 - 1
5-13717521-G-A c.12608C>T p.A4203V Missense 73/79 - 2
5-13717526-G-A c.12603C>T p.F4201= Synonymous 73/79 - 7
5-13717530-T-A c.12599A>T p.K4200M Missense 73/79 - 6
5-13717530-T-C c.12599A>G p.K4200R Missense 73/79 - 4
5-13717530-T-G c.12599A>C p.K4200T Missense 73/79 - 6
5-13717529-C-CT c.12599dup p.F4201Vfs*13 Frameshift 73/79 - 1
5-13717531-T-C c.12598A>G p.K4200E Missense 73/79 - 1
5-13717533-C-T c.12596G>A p.R4199H Missense 73/79 - 5
5-13717534-G-A c.12595C>T p.R4199C Missense 73/79 - 3
5-13717538-C-T c.12591G>A p.E4197= Synonymous 73/79 - 1
5-13717540-C-T c.12589G>A p.E4197K Missense 73/79 - 7
5-13717541-C-A c.12588G>T p.Q4196H Missense 73/79 - 3
5-13717541-C-G c.12588G>C p.Q4196H Missense 73/79 - 2
5-13717543-G-A c.12586C>T p.Q4196* Nonsense 73/79 - 1
5-13717543-G-T c.12586C>A p.Q4196K Missense 73/79 - 3
5-13717547-A-C c.12582T>G p.T4194= Synonymous 73/79 - 1
5-13717547-A-G c.12582T>C p.T4194= Synonymous 73/79 - 1
5-13717547-A-T c.12582T>A p.T4194= Synonymous 73/79 - 1
5-13717548-G-A c.12581C>T p.T4194I Missense 73/79 - 4
5-13717552-A-G c.12577T>C p.S4193P Missense 73/79 - 1
5-13717553-G-A c.12576C>T p.H4192= Synonymous 73/79 - 2
5-13717557-A-G c.12572T>C p.L4191P Missense 73/79 - 3
5-13717559-G-A c.12570C>T p.F4190= Synonymous 73/79 - 7
5-13717563-G-A c.12566C>T p.A4189V Missense 73/79 - 1
5-13717564-C-A c.12565G>T p.A4189S Missense 73/79 - 1
5-13717565-C-A c.12564G>T p.V4188= Synonymous 73/79 - 1
5-13717565-C-G c.12564G>C p.V4188= Synonymous 73/79 - 1
5-13717565-C-T c.12564G>A p.V4188= Synonymous 73/79 - 1
5-13717567-C-T c.12562G>A p.V4188M Missense 73/79 - 1
5-13717569-G-A c.12560C>T p.A4187V Missense 73/79 - 1
5-13717570-C-T c.12559G>A p.A4187T Missense 73/79 - 7
5-13717571-G-A c.12558C>T p.Y4186= Synonymous 73/79 - 1
5-13717576-G-A c.12553C>T p.L4185= Synonymous 73/79 - 3
5-13717581-G-T c.12548C>A p.P4183H Missense 73/79 - 1
5-13717586-C-T c.12543G>A p.W4181* Nonsense 73/79 - 6
5-13717587-C-T c.12542G>A p.W4181* Nonsense 73/79 - 6
5-13717588-A-G c.12541T>C p.W4181R Missense 73/79 - 1
5-13717589-C-A c.12540G>T p.Q4180H Missense 73/79 - 1
5-13717593-G-A c.12536C>T p.S4179F Missense 73/79 - 5
5-13717593-G-T c.12536C>A p.S4179Y Missense 73/79 - 1
5-13717596-C-A c.12533G>T p.G4178V Missense 73/79 - 1
5-13717596-C-G c.12533G>C p.G4178A Missense 73/79 - 2
5-13717596-C-T c.12533G>A p.G4178E Missense 73/79 - 1
5-13717599-G-A c.12530C>T p.S4177F Missense 73/79 - 5
5-13717600-A-G c.12529T>C p.S4177P Missense 73/79 - 1
5-13717604-C-T c.12525G>A p.V4175= Synonymous 73/79 - 5
5-13717606-C-A c.12523G>T p.V4175L Missense 73/79 - 1
5-13717606-C-G c.12523G>C p.V4175L Missense 73/79 - 2
5-13717606-C-T c.12523G>A p.V4175M Missense 73/79 - 3
5-13717607-G-A c.12522C>T p.D4174= Synonymous 73/79 - 1
5-13717608-T-C c.12521A>G p.D4174G Missense 73/79 - 1
5-13717622-G-C c.12507C>G p.S4169R Missense 73/79 - 1
5-13717622-G-T c.12507C>A p.S4169R Missense 73/79 - 1
5-13717624-T-G c.12505A>C p.S4169R Missense 73/79 - 1
5-13717623-C-T c.12506G>A p.S4169N Missense 73/79 - 1
5-13717624-T-A c.12505A>T p.S4169C Missense 73/79 - 1
5-13717626-A-G c.12503T>C p.V4168A Missense 73/79 - 1
5-13717627-C-T c.12502G>A p.V4168I Missense 73/79 - 1
5-13717823-A-C c.12500-194T>G - IntronicSNV - 72/78 3
5-13718989-A-C c.12499+2T>G - IntronicSNV - 72/78 1
5-13718990-C-T c.12499+1G>A - IntronicSNV - 72/78 1
5-13718991-C-T c.12499G>A p.G4167S Missense 72/79 - 5
5-13718995-A-C c.12495T>G p.Y4165* Nonsense 72/79 - 1
5-13718995-A-T c.12495T>A p.Y4165* Nonsense 72/79 - 1
5-13718997-A-G c.12493T>C p.Y4165H Missense 72/79 - 1
5-13718998-T-A c.12492A>T p.T4164= Synonymous 72/79 - 1
5-13718998-T-C c.12492A>G p.T4164= Synonymous 72/79 - 2
5-13718998-T-G c.12492A>C p.T4164= Synonymous 72/79 - 2
5-13719000-T-C c.12490A>G p.T4164A Missense 72/79 - 1
5-13719001-T-A c.12489A>T p.R4163S Missense 72/79 - 1
5-13719001-T-G c.12489A>C p.R4163S Missense 72/79 - 1
5-13719002-C-A c.12488G>T p.R4163I Missense 72/79 - 3
5-13719002-C-T c.12488G>A p.R4163K Missense 72/79 - 2
5-13719003-T-A c.12487A>T p.R4163* Nonsense 72/79 - 2
5-13719006-T-G c.12484A>C p.K4162Q Missense 72/79 - 2
5-13719007-C-A c.12483G>T p.L4161= Synonymous 72/79 - 1
5-13719007-C-G c.12483G>C p.L4161= Synonymous 72/79 - 1
5-13719007-C-T c.12483G>A p.L4161= Synonymous 72/79 - 4
5-13719009-G-A c.12481C>T p.L4161= Synonymous 72/79 - 1
5-13719012-C-T c.12478G>A p.G4160R Missense 72/79 - 1
5-13719015-C-T c.12475G>A p.A4159T Missense 72/79 - 3
5-13719017-C-A c.12473G>T p.R4158L Missense 72/79 - 3
5-13719017-C-T c.12473G>A p.R4158Q Missense 72/79 - 2
5-13719018-G-A c.12472C>T p.R4158W Missense 72/79 - 13
5-13719018-G-T c.12472C>A p.R4158= Synonymous 72/79 - 1
5-13719022-T-A c.12468A>T p.G4156= Synonymous 72/79 - 16
5-13719022-T-C c.12468A>G p.G4156= Synonymous 72/79 - 16
5-13719022-T-G c.12468A>C p.G4156= Synonymous 72/79 - 17
5-13719023-C-G c.12467G>C p.G4156A Missense 72/79 - 1
5-13719024-C-T c.12466G>A p.G4156R Missense 72/79 - 3
5-13719028-T-A c.12462A>T p.P4154= Synonymous 72/79 - 1
5-13719029-G-A c.12461C>T p.P4154L Missense 72/79 - 2
5-13719030-G-A c.12460C>T p.P4154S Missense 72/79 - 5
5-13719031-A-T c.12459T>A p.P4153= Synonymous 72/79 - 4
5-13719032-G-A c.12458C>T p.P4153L Missense 72/79 - 3
5-13719032-G-T c.12458C>A p.P4153H Missense 72/79 - 6
5-13719033-G-T c.12457C>A p.P4153T Missense 72/79 - 4
5-13719036-C-T c.12454G>A p.D4152N Missense 72/79 - 6
5-13719037-G-A c.12453C>T p.N4151= Synonymous 72/79 - 3
5-13719041-G-A c.12449C>T p.A4150V Missense 72/79 - 1
5-13719053-G-A c.12437C>T p.S4146F Missense 72/79 - 1
5-13719054-A-C c.12436T>G p.S4146A Missense 72/79 - 4
5-13719054-A-T c.12436T>A p.S4146T Missense 72/79 - 1
5-13719060-G-A c.12430C>T p.Q4144* Nonsense 72/79 - 1
5-13719060-G-C c.12430C>G p.Q4144E Missense 72/79 - 1
5-13719064-G-A c.12426C>T p.L4142= Synonymous 72/79 - 1
5-13719066-G-A c.12424C>T p.L4142F Missense 72/79 - 5
5-13719066-G-C c.12424C>G p.L4142V Missense 72/79 - 1
5-13719067-T-C c.12423A>G p.T4141= Synonymous 72/79 - 1
5-13719074-G-A c.12416C>T p.P4139L Missense 72/79 - 3
5-13719075-G-A c.12415C>T p.P4139S Missense 72/79 - 10
5-13719075-G-C c.12415C>G p.P4139A Missense 72/79 - 1
5-13719077-A-C c.12413T>G p.F4138C Missense 72/79 - 2
5-13719076-A-T c.12414T>A p.F4138L Missense 72/79 - 1
5-13719083-T-G c.12407A>C p.K4136T Missense 72/79 - 1
5-13719084-T-C c.12406A>G p.K4136E Missense 72/79 - 1
5-13719087-G-A c.12403C>T p.H4135Y Missense 72/79 - 7
5-13719088-A-C c.12402T>G p.A4134= Synonymous 72/79 - 2
5-13719088-A-G c.12402T>C p.A4134= Synonymous 72/79 - 2
5-13719088-A-T c.12402T>A p.A4134= Synonymous 72/79 - 2
5-13719089-G-A c.12401C>T p.A4134V Missense 72/79 - 40
5-13719089-G-C c.12401C>G p.A4134G Missense 72/79 - 7
5-13719089-G-T c.12401C>A p.A4134D Missense 72/79 - 7
5-13719090-C-A c.12400G>T p.A4134S Missense 72/79 - 4
5-13719093-C-T c.12397G>A p.E4133K Missense 72/79 - 3
5-13719095-G-A c.12395C>T p.T4132I Missense 72/79 - 1
5-13719099-T-C c.12391A>G p.T4131A Missense 72/79 - 4
5-13719100-C-A c.12390G>T p.M4130I Missense 72/79 - 1
5-13719100-C-G c.12390G>C p.M4130I Missense 72/79 - 1
5-13719100-C-T c.12390G>A p.M4130I Missense 72/79 - 6
5-13719108-G-A c.12382C>T p.L4128F Missense 72/79 - 1
5-13719110-C-T c.12380G>A p.R4127H Missense 72/79 - 11
5-13719111-G-A c.12379C>T p.R4127C Missense 72/79 - 12
5-13719112-G-A c.12378C>T p.F4126= Synonymous 72/79 - 1
5-13719114-A-C c.12376T>G p.F4126V Missense 72/79 - 1
5-13719115-C-T c.12375G>A p.A4125= Synonymous 72/79 - 2
5-13719116-G-A c.12374C>T p.A4125V Missense 72/79 - 9
5-13719120-C-T c.12370G>A p.D4124N Missense 72/79 - 2
5-13719122-T-C c.12368A>G p.H4123R Missense 72/79 - 1
5-13719123-G-A c.12367C>T p.H4123Y Missense 72/79 - 7
5-13719125-A-C c.12365T>G p.V4122G Missense 72/79 - 1
5-13719126-C-A c.12364G>T p.V4122L Missense 72/79 - 3
5-13719126-C-G c.12364G>C p.V4122L Missense 72/79 - 2
5-13719129-G-A c.12361C>T p.L4121F Missense 72/79 - 1
5-13719132-C-T c.12358G>A p.E4120K Missense 72/79 - 1
5-13719133-A-C c.12357T>G p.T4119= Synonymous 72/79 - 1
5-13719134-G-A c.12356C>T p.T4119I Missense 72/79 - 6
5-13719138-C-A c.12352G>T p.E4118* Nonsense 72/79 - 1
5-13719141-T-A c.12349A>T p.I4117L Missense 72/79 - 1
5-13719141-T-C c.12349A>G p.I4117V Missense 72/79 - 2
5-13719142-G-A c.12348C>T p.I4116= Synonymous 72/79 - 3
5-13719144-T-A c.12346A>T p.I4116F Missense 72/79 - 2
5-13719144-T-C c.12346A>G p.I4116V Missense 72/79 - 3
5-13719147-T-C c.12343A>G p.I4115V Missense 72/79 - 2
5-13719148-G-A c.12342C>T p.D4114= Synonymous 72/79 - 2
5-13719150-C-T c.12340G>A p.D4114N Missense 72/79 - 7
5-13719151-C-A c.12339G>T p.M4113I Missense 72/79 - 2
5-13719151-C-G c.12339G>C p.M4113I Missense 72/79 - 2
5-13719151-C-T c.12339G>A p.M4113I Missense 72/79 - 2
5-13719158-T-C c.12332A>G p.E4111G Missense 72/79 - 1
5-13719159-C-T c.12331G>A p.E4111K Missense 72/79 - 1
5-13719162-C-T c.12328G>A p.D4110N Missense 72/79 - 8
5-13719166-G-A c.12324C>T p.F4108= Synonymous 72/79 - 6
5-13719167-A-C c.12323T>G p.F4108C Missense 72/79 - 1
5-13719168-A-T c.12322T>A p.F4108I Missense 72/79 - 1
5-13719171-C-T c.12319G>A p.D4107N Missense 72/79 - 3
5-13719176-C-T c.12314G>A p.G4105E Missense 72/79 - 3
5-13719177-C-T c.12313G>A p.G4105R Missense 72/79 - 1
5-13719180-G-A c.12310C>T p.L4104= Synonymous 72/79 - 1
5-13719182-T-C c.12308A>G p.H4103R Missense 72/79 - 1
5-13719184-G-T c.12306C>A p.C4102* Nonsense 72/79 - 3
5-13719185-CA-GT c.12304_12305delinsAC p.C4102T Missense 72/79 - 1
5-13719185-C-T c.12305G>A p.C4102Y Missense 72/79 - 1
5-13719186-A-C c.12304T>G p.C4102G Missense 72/79 - 1
5-13719187-G-C c.12303C>G p.N4101K Missense 72/79 - 1
5-13719194-A-C c.12296T>G p.L4099R Missense 72/79 - 1
5-13719198-G-A c.12292C>T p.L4098F Missense 72/79 - 1
5-13719200-G-A c.12290C>T p.A4097V Missense 72/79 - 1
5-13719204-A-C c.12286T>G p.W4096G Missense 72/79 - 1
5-13719206-C-T c.12284G>A p.G4095E Missense 72/79 - 3
5-13719210-C-A c.12280G>T p.G4094* Nonsense 72/79 - 1
5-13719210-C-G c.12280G>C p.G4094R Missense 72/79 - 2
5-13719210-C-T c.12280G>A p.G4094R Missense 72/79 - 6
5-13719638-G-A c.12280-428C>T - IntronicSNV - 71/78 1
5-13719997-A-C c.12280-787T>G - IntronicSNV - 71/78 1
5-13720970-T-A c.12279+139A>T - IntronicSNV - 71/78 1
5-13720970-T-TAA c.12279+137_12279+138dup - IntronicInsertion - 71/78 1
5-13720970-TA-T c.12279+138del - IntronicDeletion - 71/78 1
5-13720970-T-TA c.12279+138dup - IntronicInsertion - 71/78 2
5-13721083-C-T c.12279+26G>A - IntronicSNV - 71/78 1
5-13721108-AC-A c.12279+1del - IntronicDeletion - 71/78 1
5-13721110-T-C c.12278A>G p.N4093S Missense 71/79 - 2
5-13721111-T-C c.12277A>G p.N4093D Missense 71/79 - 3
5-13721112-C-A c.12276G>T p.A4092= Synonymous 71/79 - 3
5-13721112-C-G c.12276G>C p.A4092= Synonymous 71/79 - 3
5-13721112-C-T c.12276G>A p.A4092= Synonymous 71/79 - 7
5-13721113-G-A c.12275C>T p.A4092V Missense 71/79 - 2
5-13721113-G-C c.12275C>G p.A4092G Missense 71/79 - 1
5-13721114-C-T c.12274G>A p.A4092T Missense 71/79 - 1
5-13721116-A-G c.12272T>C p.M4091T Missense 71/79 - 1
5-13721123-G-A c.12265C>T p.Q4089* Nonsense 71/79 - 2
5-13721123-G-T c.12265C>A p.Q4089K Missense 71/79 - 1
5-13721124-C-A c.12264G>T p.Q4088H Missense 71/79 - 1
5-13721129-A-C c.12259T>G p.L4087V Missense 71/79 - 1
5-13721130-G-A c.12258C>T p.L4086= Synonymous 71/79 - 1
5-13721130-G-C c.12258C>G p.L4086= Synonymous 71/79 - 1
5-13721130-G-T c.12258C>A p.L4086= Synonymous 71/79 - 1
5-13721132-G-A c.12256C>T p.L4086F Missense 71/79 - 4
5-13721137-C-A c.12251G>T p.R4084L Missense 71/79 - 2
5-13721137-C-T c.12251G>A p.R4084Q Missense 71/79 - 5
5-13721138-G-A c.12250C>T p.R4084W Missense 71/79 - 3
5-13721140-G-T c.12248C>A p.A4083D Missense 71/79 - 1
5-13721144-G-A c.12244C>T p.H4082Y Missense 71/79 - 7
5-13721147-C-T c.12241G>A p.V4081I Missense 71/79 - 1
5-13721150-C-T c.12238G>A p.E4080K Missense 71/79 - 2
5-13721156-C-A c.12232G>T p.G4078C Missense 71/79 - 3
5-13721161-C-G c.12227G>C p.G4076A Missense 71/79 - 2
5-13721162-C-T c.12226G>A p.G4076S Missense 71/79 - 2
5-13721163-C-G c.12225G>C p.M4075I Missense 71/79 - 1
5-13721167-G-A c.12221C>T p.S4074F Missense 71/79 - 2
5-13721170-A-G c.12218T>C p.V4073A Missense 71/79 - 1
5-13721171-C-G c.12217G>C p.V4073L Missense 71/79 - 1
5-13721171-C-T c.12217G>A p.V4073M Missense 71/79 - 2
5-13721172-A-C c.12216T>G p.Y4072* Nonsense 71/79 - 2
5-13721172-A-T c.12216T>A p.Y4072* Nonsense 71/79 - 3
5-13721173-T-C c.12215A>G p.Y4072C Missense 71/79 - 1
5-13721176-C-A c.12212G>T p.R4071L Missense 71/79 - 1
5-13721176-C-T c.12212G>A p.R4071H Missense 71/79 - 9
5-13721177-G-A c.12211C>T p.R4071C Missense 71/79 - 7
5-13721177-G-C c.12211C>G p.R4071G Missense 71/79 - 1
5-13721177-G-T c.12211C>A p.R4071S Missense 71/79 - 2
5-13721179-G-A c.12209C>T p.T4070I Missense 71/79 - 2
5-13721182-T-A c.12206A>T p.E4069V Missense 71/79 - 1
5-13721184-T-C c.12204A>G p.I4068M Missense 71/79 - 1
5-13721185-AT-TA c.12202_12203delinsTA p.I4068* Nonsense 71/79 - 2
5-13721196-C-A c.12192G>T p.K4064N Missense 71/79 - 1
5-13721196-C-G c.12192G>C p.K4064N Missense 71/79 - 1
5-13721196-C-T c.12192G>A p.K4064= Synonymous 71/79 - 5
5-13721199-C-T c.12189G>A p.G4063= Synonymous 71/79 - 1
5-13721200-CC-AG c.12187_12188delinsCT p.G4063L Missense 71/79 - 1
5-13721201-C-G c.12187G>C p.G4063R Missense 71/79 - 2
5-13721201-C-T c.12187G>A p.G4063R Missense 71/79 - 2
5-13721205-G-A c.12183C>T p.A4061= Synonymous 71/79 - 1
5-13721205-G-C c.12183C>G p.A4061= Synonymous 71/79 - 1
5-13721205-G-T c.12183C>A p.A4061= Synonymous 71/79 - 1
5-13721211-G-A c.12177C>T p.I4059= Synonymous 71/79 - 2
5-13721211-G-C c.12177C>G p.I4059M Missense 71/79 - 1
5-13721213-T-C c.12175A>G p.I4059V Missense 71/79 - 1
5-13721215-G-A c.12173C>T p.S4058F Missense 71/79 - 2
5-13721215-G-T c.12173C>A p.S4058Y Missense 71/79 - 1
5-13721216-A-G c.12172T>C p.S4058P Missense 71/79 - 1
5-13721219-C-A c.12169G>T p.D4057Y Missense 71/79 - 2
5-13721219-C-T c.12169G>A p.D4057N Missense 71/79 - 1
5-13721222-T-A c.12166A>T p.T4056S Missense 71/79 - 3
5-13721223-G-A c.12165C>T p.P4055= Synonymous 71/79 - 4
5-13721223-G-T c.12165C>A p.P4055= Synonymous 71/79 - 2
5-13721225-G-T c.12163C>A p.P4055T Missense 71/79 - 1
5-13721227-T-A c.12161A>T p.D4054V Missense 71/79 - 1
5-13721231-A-G c.12157T>C p.S4053P Missense 71/79 - 2
5-13721235-C-A c.12153G>T p.M4051I Missense 71/79 - 2
5-13721235-C-G c.12153G>C p.M4051I Missense 71/79 - 2
5-13721235-C-T c.12153G>A p.M4051I Missense 71/79 - 7
5-13721237-T-C c.12151A>G p.M4051V Missense 71/79 - 1
5-13721237-T-G c.12151A>C p.M4051L Missense 71/79 - 1
5-13721238-A-G c.12150T>C p.S4050= Synonymous 71/79 - 2
5-13721239-G-A c.12149C>T p.S4050F Missense 71/79 - 1
5-13721244-G-A c.12144C>T p.L4048= Synonymous 71/79 - 6
5-13721244-G-C c.12144C>G p.L4048= Synonymous 71/79 - 1
5-13721244-G-T c.12144C>A p.L4048= Synonymous 71/79 - 1
5-13721246-G-A c.12142C>T p.L4048F Missense 71/79 - 2
5-13721249-A-T c.12139T>A p.C4047S Missense 71/79 - 1
5-13721250-G-A c.12138C>T p.I4046= Synonymous 71/79 - 1
5-13721250-G-C c.12138C>G p.I4046M Missense 71/79 - 1
5-13721252-T-C c.12136A>G p.I4046V Missense 71/79 - 1
5-13721259-C-A c.12129G>T p.T4043= Synonymous 71/79 - 4
5-13721259-C-G c.12129G>C p.T4043= Synonymous 71/79 - 4
5-13721259-C-T c.12129G>A p.T4043= Synonymous 71/79 - 5
5-13721260-G-A c.12128C>T p.T4043M Missense 71/79 - 4
5-13721263-C-G c.12125G>C p.R4042P Missense 71/79 - 4
5-13721263-C-T c.12125G>A p.R4042Q Missense 71/79 - 2
5-13721264-G-A c.12124C>T p.R4042W Missense 71/79 - 1
5-13721265-T-A c.12123A>T p.P4041= Synonymous 71/79 - 2
5-13721265-T-C c.12123A>G p.P4041= Synonymous 71/79 - 2
5-13721265-T-G c.12123A>C p.P4041= Synonymous 71/79 - 2
5-13721266-G-A c.12122C>T p.P4041L Missense 71/79 - 9
5-13721267-G-A c.12121C>T p.P4041S Missense 71/79 - 6
5-13721272-G-T c.12116C>A p.S4039Y Missense 71/79 - 3
5-13721276-C-T c.12112G>A p.E4038K Missense 71/79 - 2
5-13721277-C-T c.12111G>A p.E4037= Synonymous 71/79 - 5
5-13721279-C-T c.12109G>A p.E4037K Missense 71/79 - 1
5-13721280-C-T c.12108G>A p.W4036* Nonsense 71/79 - 2
5-13721281-C-A c.12107G>T p.W4036L Missense 71/79 - 3
5-13721281-C-T c.12107G>A p.W4036* Nonsense 71/79 - 1
5-13721282-A-G c.12106T>C p.W4036R Missense 71/79 - 1
5-13721282-A-T c.12106T>A p.W4036R Missense 71/79 - 1
5-13721284-G-A c.12104C>T p.T4035M Missense 71/79 - 1
5-13721295-G-T c.12093C>A p.D4031E Missense 71/79 - 1
5-13721299-A-G c.12089T>C p.L4030S Missense 71/79 - 1
5-13721302-A-G c.12086T>C p.I4029T Missense 71/79 - 1
5-13721303-T-C c.12085A>G p.I4029V Missense 71/79 - 1
5-13721305-A-C c.12083T>G p.V4028G Missense 71/79 - 6
5-13721306-C-T c.12082G>A p.V4028I Missense 71/79 - 1
5-13721308-C-A c.12080G>T p.G4027V Missense 71/79 - 1
5-13721312-C-T c.12076G>A p.E4026K Missense 71/79 - 13
5-13721313-G-A c.12075C>T p.A4025= Synonymous 71/79 - 1
5-13721313-G-C c.12075C>G p.A4025= Synonymous 71/79 - 1
5-13721313-G-T c.12075C>A p.A4025= Synonymous 71/79 - 1
5-13721315-C-T c.12073G>A p.A4025T Missense 71/79 - 1
5-13721322-T-G c.12066A>C p.E4022D Missense 71/79 - 1
5-13721324-C-T c.12064G>A p.E4022K Missense 71/79 - 4
5-13721325-T-A c.12063A>T p.G4021= Synonymous 71/79 - 1
5-13721325-T-C c.12063A>G p.G4021= Synonymous 71/79 - 1
5-13721325-T-G c.12063A>C p.G4021= Synonymous 71/79 - 2
5-13721326-C-T c.12062G>A p.G4021E Missense 71/79 - 4
5-13721327-C-T c.12061G>A p.G4021R Missense 71/79 - 4
5-13721328-C-A c.12060G>T p.M4020I Missense 71/79 - 3
5-13721328-C-G c.12060G>C p.M4020I Missense 71/79 - 2
5-13721328-C-T c.12060G>A p.M4020I Missense 71/79 - 2
5-13721330-T-C c.12058A>G p.M4020V Missense 71/79 - 1
5-13721337-C-T c.12051G>A p.V4017= Synonymous 71/79 - 1
5-13721339-C-T c.12049G>A p.V4017M Missense 71/79 - 3
5-13721340-G-A c.12048C>T p.I4016= Synonymous 71/79 - 2
5-13721340-G-T c.12048C>A p.I4016= Synonymous 71/79 - 2
5-13721342-T-G c.12046A>C p.I4016L Missense 71/79 - 1
5-13721344-T-A c.12044A>T p.Y4015F Missense 71/79 - 1
5-13721345-A-C c.12043T>G p.Y4015D Missense 71/79 - 1
5-13721345-A-G c.12043T>C p.Y4015H Missense 71/79 - 1
5-13721347-T-A c.12041A>T p.K4014M Missense 71/79 - 1
5-13721350-C-G c.12038G>C p.R4013P Missense 71/79 - 4
5-13721350-C-T c.12038G>A p.R4013H Missense 71/79 - 2
5-13721351-G-A c.12037C>T p.R4013C Missense 71/79 - 7
5-13721354-C-A c.12034G>T p.A4012S Missense 71/79 - 2
5-13721354-C-G c.12034G>C p.A4012P Missense 71/79 - 1
5-13721378-A-G c.12034-24T>C - IntronicSNV - 70/78 2
5-13726937-C-T c.12033+679G>A - IntronicSNV - 70/78 1
5-13727326-G-A c.12033+290C>T - IntronicSNV - 70/78 1
5-13727606-G-T c.12033+10C>A - IntronicSNV - 70/78 1
5-13727609-T-C c.12033+7A>G - IntronicSNV - 70/78 1
5-13727614-A-C c.12033+2T>G - IntronicSNV - 70/78 1
5-13727616-C-T c.12033G>A p.Q4011= Synonymous 70/79 - 4
5-13727621-C-T c.12028G>A p.A4010T Missense 70/79 - 5
5-13727622-G-A c.12027C>T p.I4009= Synonymous 70/79 - 7
5-13727626-G-A c.12023C>T p.T4008I Missense 70/79 - 1
5-13727626-G-C c.12023C>G p.T4008S Missense 70/79 - 2
5-13727629-C-T c.12020G>A p.R4007K Missense 70/79 - 2
5-13727630-T-C c.12019A>G p.R4007G Missense 70/79 - 1
5-13727634-A-G c.12015T>C p.P4005= Synonymous 70/79 - 1
5-13727638-C-T c.12011G>A p.C4004Y Missense 70/79 - 1
5-13727640-C-T c.12009G>A p.W4003* Nonsense 70/79 - 1
5-13727641-C-T c.12008G>A p.W4003* Nonsense 70/79 - 1
5-13727643-G-A c.12006C>T p.S4002= Synonymous 70/79 - 2
5-13727644-G-A c.12005C>T p.S4002F Missense 70/79 - 3
5-13727645-A-T c.12004T>A p.S4002T Missense 70/79 - 1
5-13727646-T-C c.12003A>G p.R4001= Synonymous 70/79 - 1
5-13727654-G-A c.11995C>T p.L3999F Missense 70/79 - 7
5-13727657-G-A c.11992C>T p.L3998F Missense 70/79 - 1
5-13727660-G-C c.11989C>G p.L3997V Missense 70/79 - 1
5-13727662-C-T c.11987G>A p.R3996H Missense 70/79 - 2
5-13727663-G-A c.11986C>T p.R3996C Missense 70/79 - 2
5-13727665-C-A c.11984G>T p.R3995I Missense 70/79 - 1
5-13727667-G-A c.11982C>T p.F3994= Synonymous 70/79 - 1
5-13727667-G-C c.11982C>G p.F3994L Missense 70/79 - 1
5-13727667-G-T c.11982C>A p.F3994L Missense 70/79 - 1
5-13727669-A-G c.11980T>C p.F3994L Missense 70/79 - 1
5-13727675-C-G c.11974G>C p.D3992H Missense 70/79 - 3
5-13727678-G-A c.11971C>T p.L3991F Missense 70/79 - 3
5-13727679-A-C c.11970T>G p.S3990= Synonymous 70/79 - 2
5-13727679-A-G c.11970T>C p.S3990= Synonymous 70/79 - 3
5-13727679-A-T c.11970T>A p.S3990= Synonymous 70/79 - 2
5-13727680-G-A c.11969C>T p.S3990F Missense 70/79 - 2
5-13727680-G-T c.11969C>A p.S3990Y Missense 70/79 - 1
5-13727686-T-C c.11963A>G p.D3988G Missense 70/79 - 1
5-13727687-C-G c.11962G>C p.D3988H Missense 70/79 - 1
5-13727687-C-T c.11962G>A p.D3988N Missense 70/79 - 6
5-13727692-G-A c.11957C>T p.A3986V Missense 70/79 - 1
5-13727693-C-T c.11956G>A p.A3986T Missense 70/79 - 2
5-13727695-T-C c.11954A>G p.N3985S Missense 70/79 - 2
5-13727697-T-C c.11952A>G p.P3984= Synonymous 70/79 - 1
5-13727698-G-T c.11951C>A p.P3984Q Missense 70/79 - 1
5-13727699-G-A c.11950C>T p.P3984S Missense 70/79 - 3
5-13727702-G-A c.11947C>T p.L3983F Missense 70/79 - 7
5-13727704-G-A c.11945C>T p.P3982L Missense 70/79 - 1
5-13727708-C-T c.11941G>A p.E3981K Missense 70/79 - 1
5-13727709-C-A c.11940G>T p.E3980D Missense 70/79 - 1
5-13727709-C-G c.11940G>C p.E3980D Missense 70/79 - 1
5-13727709-C-T c.11940G>A p.E3980= Synonymous 70/79 - 3
5-13727711-C-T c.11938G>A p.E3980K Missense 70/79 - 8
5-13727712-C-T c.11937G>A p.E3979= Synonymous 70/79 - 5
5-13727714-C-T c.11935G>A p.E3979K Missense 70/79 - 1
5-13727715-C-A c.11934G>T p.P3978= Synonymous 70/79 - 1
5-13727715-C-G c.11934G>C p.P3978= Synonymous 70/79 - 1
5-13727715-C-T c.11934G>A p.P3978= Synonymous 70/79 - 5
5-13727716-G-A c.11933C>T p.P3978L Missense 70/79 - 3
5-13727717-G-A c.11932C>T p.P3978S Missense 70/79 - 4
5-13727723-C-T c.11926G>A p.E3976K Missense 70/79 - 8
5-13727724-C-A c.11925G>T p.K3975N Missense 70/79 - 1
5-13727724-C-G c.11925G>C p.K3975N Missense 70/79 - 1
5-13727729-C-A c.11920G>T p.D3974Y Missense 70/79 - 4
5-13727730-A-C c.11919T>G p.F3973L Missense 70/79 - 3
5-13727734-C-A c.11915G>T p.W3972L Missense 70/79 - 6
5-13727736-A-C c.11913T>G p.I3971M Missense 70/79 - 1
5-13727742-C-T c.11907G>A p.W3969* Nonsense 70/79 - 12
5-13727743-C-T c.11906G>A p.W3969* Nonsense 70/79 - 5
5-13727753-C-A c.11896G>T p.E3966* Nonsense 70/79 - 1
5-13727753-C-T c.11896G>A p.E3966K Missense 70/79 - 3
5-13727760-C-A c.11889G>T p.S3963= Synonymous 70/79 - 1
5-13727760-C-G c.11889G>C p.S3963= Synonymous 70/79 - 1
5-13727760-C-T c.11889G>A p.S3963= Synonymous 70/79 - 1
5-13727761-G-A c.11888C>T p.S3963L Missense 70/79 - 11
5-13727765-T-G c.11884A>C p.I3962L Missense 70/79 - 1
5-13728002-A-G c.11884-237T>C - IntronicSNV - 69/78 1
5-13729550-G-A c.11881C>T p.Q3961* Nonsense 69/79 - 2
5-13729553-C-A c.11878G>T p.D3960Y Missense 69/79 - 2
5-13729555-A-G c.11876T>C p.L3959P Missense 69/79 - 1
5-13729557-G-A c.11874C>T p.V3958= Synonymous 69/79 - 1
5-13729558-A-G c.11873T>C p.V3958A Missense 69/79 - 3
5-13729562-C-T c.11869G>A p.D3957N Missense 69/79 - 1
5-13729564-G-A c.11867C>T p.S3956L Missense 69/79 - 2
5-13729569-C-A c.11862G>T p.Q3954H Missense 69/79 - 1
5-13729569-C-G c.11862G>C p.Q3954H Missense 69/79 - 1
5-13729570-T-A c.11861A>T p.Q3954L Missense 69/79 - 1
5-13729573-C-A c.11858G>T p.R3953I Missense 69/79 - 1
5-13729575-G-A c.11856C>T p.L3952= Synonymous 69/79 - 1
5-13729578-T-C c.11853A>G p.K3951= Synonymous 69/79 - 1
5-13729577-GT-G c.11853del p.K3951Nfs*80 Frameshift 69/79 - 1
5-13729582-C-A c.11849G>T p.S3950I Missense 69/79 - 1
5-13729583-T-A c.11848A>T p.S3950C Missense 69/79 - 2
5-13729585-A-C c.11846T>G p.L3949R Missense 69/79 - 4
5-13729585-A-G c.11846T>C p.L3949P Missense 69/79 - 1
5-13729586-G-A c.11845C>T p.L3949F Missense 69/79 - 1
5-13729587-T-A c.11844A>T p.E3948D Missense 69/79 - 1
5-13729587-T-G c.11844A>C p.E3948D Missense 69/79 - 1
5-13729589-C-G c.11842G>C p.E3948Q Missense 69/79 - 1
5-13729589-C-T c.11842G>A p.E3948K Missense 69/79 - 4
5-13729591-A-G c.11840T>C p.V3947A Missense 69/79 - 1
5-13729592-C-A c.11839G>T p.V3947L Missense 69/79 - 1
5-13729592-C-G c.11839G>C p.V3947L Missense 69/79 - 1
5-13729594-A-T c.11837T>A p.L3946* Nonsense 69/79 - 1
5-13729595-A-T c.11836T>A p.L3946M Missense 69/79 - 2
5-13729599-C-A c.11832G>T p.L3944= Synonymous 69/79 - 2
5-13729599-C-G c.11832G>C p.L3944= Synonymous 69/79 - 2
5-13729599-C-T c.11832G>A p.L3944= Synonymous 69/79 - 6
5-13729601-G-A c.11830C>T p.L3944= Synonymous 69/79 - 2
5-13729600-A-G c.11831T>C p.L3944P Missense 69/79 - 1
5-13729607-T-G c.11824A>C p.T3942P Missense 69/79 - 1
5-13729614-C-T c.11817G>A p.L3939= Synonymous 69/79 - 3
5-13729616-G-A c.11815C>T p.L3939= Synonymous 69/79 - 1
5-13729617-G-A c.11814C>T p.I3938= Synonymous 69/79 - 4
5-13729619-T-A c.11812A>T p.I3938F Missense 69/79 - 4
5-13729620-C-A c.11811G>T p.W3937C Missense 69/79 - 2
5-13729620-C-G c.11811G>C p.W3937C Missense 69/79 - 2
5-13729620-C-T c.11811G>A p.W3937* Nonsense 69/79 - 6
5-13729621-C-T c.11810G>A p.W3937* Nonsense 69/79 - 5
5-13729625-T-C c.11806A>G p.K3936E Missense 69/79 - 1
5-13729627-G-T c.11804C>A p.S3935* Nonsense 69/79 - 1
5-13729628-A-T c.11803T>A p.S3935T Missense 69/79 - 1
5-13729630-G-A c.11801C>T p.P3934L Missense 69/79 - 1
5-13729631-G-A c.11800C>T p.P3934S Missense 69/79 - 1
5-13729635-T-C c.11796A>G p.P3932= Synonymous 69/79 - 2
5-13729639-G-A c.11792C>T p.P3931L Missense 69/79 - 3
5-13729639-G-T c.11792C>A p.P3931H Missense 69/79 - 3
5-13729644-A-C c.11787T>G p.A3929= Synonymous 69/79 - 1
5-13729644-A-G c.11787T>C p.A3929= Synonymous 69/79 - 2
5-13729644-A-T c.11787T>A p.A3929= Synonymous 69/79 - 1
5-13729647-T-G c.11784A>C p.K3928N Missense 69/79 - 1
5-13729648-T-G c.11783A>C p.K3928T Missense 69/79 - 2
5-13729651-A-C c.11780T>G p.L3927R Missense 69/79 - 1
5-13729652-G-A c.11779C>T p.L3927F Missense 69/79 - 6
5-13729654-T-A c.11777A>T p.D3926V Missense 69/79 - 1
5-13729655-C-A c.11776G>T p.D3926Y Missense 69/79 - 1
5-13729660-G-A c.11771C>T p.S3924L Missense 69/79 - 3
5-13729661-A-T c.11770T>A p.S3924T Missense 69/79 - 1
5-13729665-A-C c.11766T>G p.G3922= Synonymous 69/79 - 2
5-13729666-CC-TT c.11764_11765delinsAA p.G3922N Missense 69/79 - 1
5-13729666-C-T c.11765G>A p.G3922D Missense 69/79 - 1
5-13729668-TC-GT c.11762_11763delinsAC p.G3921D Missense 69/79 - 1
5-13729669-C-T c.11762G>A p.G3921E Missense 69/79 - 4
5-13729714-A-G c.11762-45T>C - IntronicSNV - 68/78 9
5-13729714-A-T c.11762-45T>A - IntronicSNV - 68/78 9
5-13733881-C-T c.11761+1359G>A - IntronicSNV - 68/78 1
5-13735147-C-A c.11761+93G>T - IntronicSNV - 68/78 2
5-13735244-A-G c.11757T>C p.I3919= Synonymous 68/79 - 2
5-13735248-A-C c.11753T>G p.L3918R Missense 68/79 - 1
5-13735249-G-A c.11752C>T p.L3918F Missense 68/79 - 2
5-13735253-G-C c.11748C>G p.L3916= Synonymous 68/79 - 1
5-13735254-A-C c.11747T>G p.L3916R Missense 68/79 - 1
5-13735254-A-G c.11747T>C p.L3916P Missense 68/79 - 1
5-13735255-G-C c.11746C>G p.L3916V Missense 68/79 - 1
5-13735259-C-A c.11742G>T p.E3914D Missense 68/79 - 1
5-13735259-C-G c.11742G>C p.E3914D Missense 68/79 - 1
5-13735261-C-T c.11740G>A p.E3914K Missense 68/79 - 3
5-13735262-T-A c.11739A>T p.E3913D Missense 68/79 - 1
5-13735262-T-G c.11739A>C p.E3913D Missense 68/79 - 1
5-13735264-C-T c.11737G>A p.E3913K Missense 68/79 - 4
5-13735266-T-C c.11735A>G p.H3912R Missense 68/79 - 2
5-13735272-A-G c.11729T>C p.V3910A Missense 68/79 - 2
5-13735275-C-T c.11726G>A p.R3909Q Missense 68/79 - 2
5-13735276-G-A c.11725C>T p.R3909* Nonsense 68/79 - 5
5-13735279-T-G c.11722A>C p.N3908H Missense 68/79 - 1
5-13735280-C-T c.11721G>A p.R3907= Synonymous 68/79 - 5
5-13735282-T-G c.11719A>C p.R3907= Synonymous 68/79 - 1
5-13735283-C-A c.11718G>T p.Q3906H Missense 68/79 - 1
5-13735283-C-G c.11718G>C p.Q3906H Missense 68/79 - 1
5-13735286-G-A c.11715C>T p.I3905= Synonymous 68/79 - 1
5-13735286-G-T c.11715C>A p.I3905= Synonymous 68/79 - 1
5-13735288-T-A c.11713A>T p.I3905F Missense 68/79 - 1
5-13735292-A-G c.11709T>C p.I3903= Synonymous 68/79 - 1
5-13735294-T-A c.11707A>T p.I3903F Missense 68/79 - 1
5-13735295-C-A c.11706G>T p.K3902N Missense 68/79 - 3
5-13735295-C-G c.11706G>C p.K3902N Missense 68/79 - 2
5-13735295-C-T c.11706G>A p.K3902= Synonymous 68/79 - 2
5-13735298-T-A c.11703A>T p.L3901= Synonymous 68/79 - 2
5-13735298-T-C c.11703A>G p.L3901= Synonymous 68/79 - 2
5-13735298-T-G c.11703A>C p.L3901= Synonymous 68/79 - 3
5-13735300-G-A c.11701C>T p.L3901= Synonymous 68/79 - 1
5-13735301-G-A c.11700C>T p.T3900= Synonymous 68/79 - 4
5-13735301-G-C c.11700C>G p.T3900= Synonymous 68/79 - 1
5-13735301-G-T c.11700C>A p.T3900= Synonymous 68/79 - 1
5-13735302-G-A c.11699C>T p.T3900I Missense 68/79 - 2
5-13735310-C-A c.11691G>T p.L3897F Missense 68/79 - 1
5-13735310-C-G c.11691G>C p.L3897F Missense 68/79 - 1
5-13735311-A-G c.11690T>C p.L3897S Missense 68/79 - 1
5-13735314-G-A c.11687C>T p.T3896I Missense 68/79 - 3
5-13735316-G-C c.11685C>G p.F3895L Missense 68/79 - 1
5-13735320-A-G c.11681T>C p.L3894P Missense 68/79 - 1
5-13735322-G-A c.11679C>T p.F3893= Synonymous 68/79 - 7
5-13735323-A-C c.11678T>G p.F3893C Missense 68/79 - 1
5-13735324-A-T c.11677T>A p.F3893I Missense 68/79 - 1
5-13735328-G-A c.11673C>T p.H3891= Synonymous 68/79 - 1
5-13735333-C-T c.11668G>A p.E3890K Missense 68/79 - 6
5-13735335-T-G c.11666A>C p.E3889A Missense 68/79 - 1
5-13735336-C-T c.11665G>A p.E3889K Missense 68/79 - 7
5-13735337-G-A c.11664C>T p.Y3888= Synonymous 68/79 - 4
5-13735337-G-C c.11664C>G p.Y3888* Nonsense 68/79 - 2
5-13735337-G-T c.11664C>A p.Y3888* Nonsense 68/79 - 4
5-13735342-G-A c.11659C>T p.L3887= Synonymous 68/79 - 2
5-13735343-C-T c.11658G>A p.G3886= Synonymous 68/79 - 1
5-13735347-C-T c.11654G>A p.R3885Q Missense 68/79 - 3
5-13735346-T-A c.11655A>T p.R3885= Synonymous 68/79 - 2
5-13735346-T-C c.11655A>G p.R3885= Synonymous 68/79 - 1
5-13735346-T-G c.11655A>C p.R3885= Synonymous 68/79 - 1
5-13735348-G-A c.11653C>T p.R3885* Nonsense 68/79 - 8
5-13735348-G-T c.11653C>A p.R3885= Synonymous 68/79 - 1
5-13735349-G-A c.11652C>T p.A3884= Synonymous 68/79 - 4
5-13735351-C-A c.11650G>T p.A3884S Missense 68/79 - 3
5-13735353-G-A c.11648C>T p.A3883V Missense 68/79 - 2
5-13735356-T-C c.11645A>G p.Y3882C Missense 68/79 - 1
5-13735362-T-C c.11639A>G p.Y3880C Missense 68/79 - 1
5-13735365-A-G c.11636T>C p.V3879A Missense 68/79 - 1
5-13735366-C-A c.11635G>T p.V3879F Missense 68/79 - 1
5-13735369-C-T c.11632G>A p.E3878K Missense 68/79 - 2
5-13735371-T-C c.11630A>G p.Y3877C Missense 68/79 - 1
5-13735373-G-C c.11628C>G p.T3876= Synonymous 68/79 - 1
5-13735375-T-A c.11626A>T p.T3876S Missense 68/79 - 1
5-13735376-C-T c.11625G>A p.M3875I Missense 68/79 - 2
5-13735385-G-A c.11616C>T p.I3872= Synonymous 68/79 - 9
5-13735385-G-C c.11616C>G p.I3872M Missense 68/79 - 2
5-13735385-G-T c.11616C>A p.I3872= Synonymous 68/79 - 3
5-13735387-T-A c.11614A>T p.I3872F Missense 68/79 - 1
5-13735388-G-A c.11613C>T p.I3871= Synonymous 68/79 - 4
5-13735394-A-G c.11607T>C p.A3869= Synonymous 68/79 - 1
5-13735399-T-C c.11602A>G p.I3868V Missense 68/79 - 4
5-13735401-C-T c.11600G>A p.R3867K Missense 68/79 - 1
5-13735408-T-C c.11593A>G p.S3865G Missense 68/79 - 4
5-13735410-G-GT c.11590dup p.T3864Nfs*7 Frameshift 68/79 - 1
5-13735414-T-G c.11587A>C p.I3863L Missense 68/79 - 5
5-13735415-C-A c.11586G>T p.P3862= Synonymous 68/79 - 6
5-13735415-C-G c.11586G>C p.P3862= Synonymous 68/79 - 6
5-13735415-C-T c.11586G>A p.P3862= Synonymous 68/79 - 8
5-13735416-G-A c.11585C>T p.P3862L Missense 68/79 - 2
5-13735418-G-C c.11583C>G p.S3861R Missense 68/79 - 3
5-13735418-G-T c.11583C>A p.S3861R Missense 68/79 - 7
5-13735420-T-G c.11581A>C p.S3861R Missense 68/79 - 3
5-13735419-C-T c.11582G>A p.S3861N Missense 68/79 - 2
5-13735426-C-A c.11575G>T p.V3859F Missense 68/79 - 3
5-13735426-C-T c.11575G>A p.V3859I Missense 68/79 - 1
5-13735430-C-A c.11571G>T p.R3857S Missense 68/79 - 1
5-13735430-C-G c.11571G>C p.R3857S Missense 68/79 - 1
5-13735821-A-C c.11570+106T>G - IntronicSNV - 67/78 1
5-13735892-T-A c.11570+35A>T - IntronicSNV - 67/78 5
5-13735892-T-C c.11570+35A>G - IntronicSNV - 67/78 10
5-13735912-C-T c.11570+15G>A - IntronicSNV - 67/78 1
5-13735918-C-G c.11570+9G>C - IntronicSNV - 67/78 1
5-13735922-C-T c.11570+5G>A - IntronicSNV - 67/78 1
5-13735928-T-C c.11569A>G p.R3857G Missense 67/79 - 2
5-13735930-G-A c.11567C>T p.A3856V Missense 67/79 - 1
5-13735931-C-A c.11566G>T p.A3856S Missense 67/79 - 2
5-13735936-G-A c.11561C>T p.S3854F Missense 67/79 - 5
5-13735939-A-T c.11558T>A p.L3853H Missense 67/79 - 6
5-13735943-C-A c.11554G>T p.D3852Y Missense 67/79 - 3
5-13735946-A-T c.11551T>A p.F3851I Missense 67/79 - 1
5-13735947-T-C c.11550A>G p.L3850= Synonymous 67/79 - 1
5-13735950-G-A c.11547C>T p.G3849= Synonymous 67/79 - 1
5-13735952-C-T c.11545G>A p.G3849S Missense 67/79 - 4
5-13735953-C-A c.11544G>T p.L3848= Synonymous 67/79 - 1
5-13735957-A-G c.11540T>C p.F3847S Missense 67/79 - 2
5-13735959-C-G c.11538G>C p.Q3846H Missense 67/79 - 1
5-13735961-G-A c.11536C>T p.Q3846* Nonsense 67/79 - 3
5-13735963-C-T c.11534G>A p.R3845H Missense 67/79 - 6
5-13735964-G-A c.11533C>T p.R3845C Missense 67/79 - 8
5-13735964-G-T c.11533C>A p.R3845S Missense 67/79 - 1
5-13735965-A-G c.11532T>C p.L3844= Synonymous 67/79 - 1
5-13735968-C-G c.11529G>C p.S3843= Synonymous 67/79 - 1
5-13735969-G-A c.11528C>T p.S3843L Missense 67/79 - 12
5-13735969-G-C c.11528C>G p.S3843W Missense 67/79 - 1
5-13735974-C-A c.11523G>T p.Q3841H Missense 67/79 - 1
5-13735974-C-G c.11523G>C p.Q3841H Missense 67/79 - 1
5-13735978-T-C c.11519A>G p.Y3840C Missense 67/79 - 2
5-13735980-C-T c.11517G>A p.M3839I Missense 67/79 - 1
5-13735982-T-C c.11515A>G p.M3839V Missense 67/79 - 1
5-13735983-C-T c.11514G>A p.E3838= Synonymous 67/79 - 5
5-13735985-C-T c.11512G>A p.E3838K Missense 67/79 - 7
5-13735988-T-A c.11509A>T p.N3837Y Missense 67/79 - 1
5-13735991-C-A c.11506G>T p.V3836F Missense 67/79 - 2
5-13735992-C-T c.11505G>A p.L3835= Synonymous 67/79 - 2
5-13735993-A-G c.11504T>C p.L3835S Missense 67/79 - 2
5-13735996-C-T c.11501G>A p.R3834H Missense 67/79 - 3
5-13735998-C-G c.11499G>C p.M3833I Missense 67/79 - 1
5-13735998-C-T c.11499G>A p.M3833I Missense 67/79 - 1
5-13736000-T-G c.11497A>C p.M3833L Missense 67/79 - 1
5-13736003-C-A c.11494G>T p.E3832* Nonsense 67/79 - 4
5-13736003-C-T c.11494G>A p.E3832K Missense 67/79 - 2
5-13736010-G-A c.11487C>T p.L3829= Synonymous 67/79 - 1
5-13736013-G-A c.11484C>T p.F3828= Synonymous 67/79 - 1
5-13736016-G-C c.11481C>G p.Y3827* Nonsense 67/79 - 1
5-13736016-G-T c.11481C>A p.Y3827* Nonsense 67/79 - 1
5-13736021-G-A c.11476C>T p.L3826F Missense 67/79 - 3
5-13736026-C-T c.11471G>A p.S3824N Missense 67/79 - 3
5-13736029-C-T c.11468G>A p.G3823D Missense 67/79 - 2
5-13736030-C-T c.11467G>A p.G3823S Missense 67/79 - 1
5-13736031-C-G c.11466G>C p.R3822= Synonymous 67/79 - 1
5-13736031-C-T c.11466G>A p.R3822= Synonymous 67/79 - 1
5-13736032-C-A c.11465G>T p.R3822L Missense 67/79 - 4
5-13736032-C-T c.11465G>A p.R3822Q Missense 67/79 - 7
5-13736033-G-A c.11464C>T p.R3822W Missense 67/79 - 7
5-13736034-C-T c.11463G>A p.T3821= Synonymous 67/79 - 1
5-13736035-G-A c.11462C>T p.T3821M Missense 67/79 - 3
5-13736035-G-T c.11462C>A p.T3821K Missense 67/79 - 1
5-13736038-G-C c.11459C>G p.A3820G Missense 67/79 - 1
5-13736040-C-A c.11457G>T p.V3819= Synonymous 67/79 - 2
5-13736040-C-G c.11457G>C p.V3819= Synonymous 67/79 - 3
5-13736040-C-T c.11457G>A p.V3819= Synonymous 67/79 - 2
5-13736041-A-G c.11456T>C p.V3819A Missense 67/79 - 1
5-13737360-C-A c.11455+1G>T - IntronicSNV - 66/78 1
5-13737361-C-T c.11455G>A p.V3819M Missense 66/79 - 2
5-13737364-G-A c.11452C>T p.P3818S Missense 66/79 - 3
5-13737364-G-C c.11452C>G p.P3818A Missense 66/79 - 1
5-13737365-T-C c.11451A>G p.R3817= Synonymous 66/79 - 1
5-13737367-T-C c.11449A>G p.R3817G Missense 66/79 - 1
5-13737373-C-G c.11443G>C p.E3815Q Missense 66/79 - 1
5-13737373-C-T c.11443G>A p.E3815K Missense 66/79 - 12
5-13737374-C-T c.11442G>A p.E3814= Synonymous 66/79 - 2
5-13737376-C-T c.11440G>A p.E3814K Missense 66/79 - 9
5-13737377-C-T c.11439G>A p.R3813= Synonymous 66/79 - 5
5-13737378-C-T c.11438G>A p.R3813Q Missense 66/79 - 3
5-13737377-C-A c.11439G>T p.R3813= Synonymous 66/79 - 1
5-13737377-C-G c.11439G>C p.R3813= Synonymous 66/79 - 1
5-13737379-G-A c.11437C>T p.R3813W Missense 66/79 - 10
5-13737379-G-T c.11437C>A p.R3813= Synonymous 66/79 - 2
5-13737380-G-A c.11436C>T p.A3812= Synonymous 66/79 - 2
5-13737381-G-A c.11435C>T p.A3812V Missense 66/79 - 3
5-13737382-C-G c.11434G>C p.A3812P Missense 66/79 - 1
5-13737382-C-T c.11434G>A p.A3812T Missense 66/79 - 1
5-13737384-G-A c.11432C>T p.S3811L Missense 66/79 - 1
5-13737386-G-C c.11430C>G p.N3810K Missense 66/79 - 1
5-13737386-G-T c.11430C>A p.N3810K Missense 66/79 - 1
5-13737392-T-C c.11424A>G p.Q3808= Synonymous 66/79 - 2
5-13737393-T-C c.11423A>G p.Q3808R Missense 66/79 - 2
5-13737394-G-A c.11422C>T p.Q3808* Nonsense 66/79 - 7
5-13737397-C-G c.11419G>C p.V3807L Missense 66/79 - 1
5-13737397-C-T c.11419G>A p.V3807I Missense 66/79 - 2
5-13737400-C-G c.11416G>C p.E3806Q Missense 66/79 - 2
5-13737400-C-T c.11416G>A p.E3806K Missense 66/79 - 3
5-13737402-G-T c.11414C>A p.T3805K Missense 66/79 - 1
5-13737406-C-A c.11410G>T p.E3804* Nonsense 66/79 - 1
5-13737408-G-T c.11408C>A p.A3803D Missense 66/79 - 1
5-13737409-C-T c.11407G>A p.A3803T Missense 66/79 - 2
5-13737411-G-A c.11405C>T p.S3802F Missense 66/79 - 2
5-13737411-G-C c.11405C>G p.S3802C Missense 66/79 - 1
5-13737415-T-C c.11401A>G p.I3801V Missense 66/79 - 1
5-13737418-C-T c.11398G>A p.E3800K Missense 66/79 - 2
5-13737421-G-T c.11395C>A p.L3799I Missense 66/79 - 1
5-13737425-C-A c.11391G>T p.Q3797H Missense 66/79 - 4
5-13737426-T-G c.11390A>C p.Q3797P Missense 66/79 - 2
5-13737427-G-C c.11389C>G p.Q3797E Missense 66/79 - 2
5-13737430-T-C c.11386A>G p.T3796A Missense 66/79 - 1
5-13737434-C-A c.11382G>T p.E3794D Missense 66/79 - 1
5-13737434-C-T c.11382G>A p.E3794= Synonymous 66/79 - 1
5-13737435-T-C c.11381A>G p.E3794G Missense 66/79 - 1
5-13737436-C-G c.11380G>C p.E3794Q Missense 66/79 - 1
5-13737436-C-T c.11380G>A p.E3794K Missense 66/79 - 1
5-13737439-C-T c.11377G>A p.E3793K Missense 66/79 - 1
5-13737440-G-A c.11376C>T p.A3792= Synonymous 66/79 - 3
5-13737440-G-C c.11376C>G p.A3792= Synonymous 66/79 - 1
5-13737440-G-T c.11376C>A p.A3792= Synonymous 66/79 - 3
5-13737441-G-C c.11375C>G p.A3792G Missense 66/79 - 1
5-13737444-G-A c.11372C>T p.T3791I Missense 66/79 - 25
5-13737444-G-C c.11372C>G p.T3791R Missense 66/79 - 4
5-13737446-C-T c.11370G>A p.R3790= Synonymous 66/79 - 1
5-13737447-C-T c.11369G>A p.R3790K Missense 66/79 - 2
5-13737450-T-G c.11366A>C p.K3789T Missense 66/79 - 1
5-13737447-C-CT c.11368dup p.R3790Kfs*15 Frameshift 66/79 - 1
5-13737452-T-C c.11364A>G p.T3788= Synonymous 66/79 - 1
5-13737459-C-T c.11357G>A p.S3786N Missense 66/79 - 1
5-13737461-C-T c.11355G>A p.L3785= Synonymous 66/79 - 1
5-13737464-C-A c.11352G>T p.V3784= Synonymous 66/79 - 1
5-13737464-C-G c.11352G>C p.V3784= Synonymous 66/79 - 1
5-13737464-C-T c.11352G>A p.V3784= Synonymous 66/79 - 1
5-13737466-C-T c.11350G>A p.V3784M Missense 66/79 - 3
5-13737467-G-A c.11349C>T p.V3783= Synonymous 66/79 - 3
5-13737467-G-C c.11349C>G p.V3783= Synonymous 66/79 - 2
5-13737467-G-T c.11349C>A p.V3783= Synonymous 66/79 - 3
5-13737472-T-C c.11344A>G p.I3782V Missense 66/79 - 1
5-13737473-G-A c.11343C>T p.L3781= Synonymous 66/79 - 3
5-13737474-A-G c.11342T>C p.L3781P Missense 66/79 - 2
5-13737475-G-A c.11341C>T p.L3781F Missense 66/79 - 1
5-13737478-T-A c.11338A>T p.S3780C Missense 66/79 - 2
5-13737478-T-G c.11338A>C p.S3780R Missense 66/79 - 1
5-13737481-C-T c.11335G>A p.E3779K Missense 66/79 - 8
5-13737486-T-C c.11330A>G p.E3777G Missense 66/79 - 1
5-13737490-C-T c.11326G>A p.V3776I Missense 66/79 - 2
5-13737491-C-A c.11325G>T p.L3775= Synonymous 66/79 - 2
5-13737493-G-A c.11323C>T p.L3775= Synonymous 66/79 - 1
5-13737494-G-A c.11322C>T p.S3774= Synonymous 66/79 - 2
5-13737495-G-A c.11321C>T p.S3774F Missense 66/79 - 7
5-13737496-A-G c.11320T>C p.S3774P Missense 66/79 - 2
5-13737499-C-T c.11317G>A p.G3773R Missense 66/79 - 3
5-13737500-C-A c.11316G>T p.Q3772H Missense 66/79 - 2
5-13737500-C-G c.11316G>C p.Q3772H Missense 66/79 - 1
5-13737500-CTGGGTACT-C c.11308_11315del p.S3770Gfs*7 Frameshift 66/79 - 1
5-13737508-T-C c.11308A>G p.S3770G Missense 66/79 - 1
5-13737508-T-TAACCATCTATCAATTAATCAATCAATCA c.11307_11308insTGATTGATTGATTAATTGATAGATGGTT p.S3770* Nonsense 66/79 - 1
5-13737514-G-A c.11302C>T p.L3768= Synonymous 66/79 - 1
5-13737516-C-T c.11300G>A p.R3767H Missense 66/79 - 8
5-13737517-G-A c.11299C>T p.R3767C Missense 66/79 - 3
5-13737518-G-A c.11298C>T p.Y3766= Synonymous 66/79 - 1
5-13737519-TAA-T c.11295_11296del p.Y3766Pfs*13 Frameshift 66/79 - 1
5-13737523-G-A c.11293C>T p.L3765F Missense 66/79 - 2
5-13737531-T-C c.11285A>G p.D3762G Missense 66/79 - 1
5-13737532-C-T c.11284G>A p.D3762N Missense 66/79 - 2
5-13737535-C-G c.11281G>C p.E3761Q Missense 66/79 - 2
5-13737536-T-A c.11280A>T p.L3760= Synonymous 66/79 - 2
5-13737536-T-C c.11280A>G p.L3760= Synonymous 66/79 - 2
5-13737536-T-G c.11280A>C p.L3760= Synonymous 66/79 - 2
5-13737538-G-A c.11278C>T p.L3760= Synonymous 66/79 - 2
5-13737537-A-T c.11279T>A p.L3760Q Missense 66/79 - 2
5-13737541-C-T c.11275G>A p.E3759K Missense 66/79 - 8
5-13737545-C-T c.11271G>A p.M3757I Missense 66/79 - 1
5-13737546-A-G c.11270T>C p.M3757T Missense 66/79 - 1
5-13737547-T-C c.11269A>G p.M3757V Missense 66/79 - 1
5-13737548-C-T c.11268G>A p.R3756= Synonymous 66/79 - 7
5-13737552-C-A c.11264G>T p.R3755I Missense 66/79 - 1
5-13737565-T-G c.11251A>C p.T3751P Missense 66/79 - 2
5-13737566-T-C c.11250A>G p.V3750= Synonymous 66/79 - 1
5-13737568-C-T c.11248G>A p.V3750I Missense 66/79 - 2
5-13737570-T-A c.11246A>T p.D3749V Missense 66/79 - 2
5-13737573-T-G c.11243A>C p.E3748A Missense 66/79 - 1
5-13737574-C-T c.11242G>A p.E3748K Missense 66/79 - 6
5-13737575-C-A c.11241G>T p.M3747I Missense 66/79 - 6
5-13737575-C-G c.11241G>C p.M3747I Missense 66/79 - 6
5-13737575-C-T c.11241G>A p.M3747I Missense 66/79 - 8
5-13737578-C-T c.11238G>A p.L3746= Synonymous 66/79 - 3
5-13737579-A-G c.11237T>C p.L3746P Missense 66/79 - 2
5-13737580-G-A c.11236C>T p.L3746= Synonymous 66/79 - 1
5-13737583-G-A c.11233C>T p.H3745Y Missense 66/79 - 5
5-13737583-G-C c.11233C>G p.H3745D Missense 66/79 - 1
5-13737584-A-T c.11232T>A p.T3744= Synonymous 66/79 - 3
5-13737585-G-T c.11231C>A p.T3744N Missense 66/79 - 1
5-13737588-C-A c.11228G>T p.R3743I Missense 66/79 - 10
5-13737588-C-T c.11228G>A p.R3743K Missense 66/79 - 5
5-13737589-T-C c.11227A>G p.R3743G Missense 66/79 - 1
5-13737595-T-G c.11221A>C p.K3741Q Missense 66/79 - 1
5-13737596-C-T c.11220G>A p.E3740= Synonymous 66/79 - 4
5-13737598-C-A c.11218G>T p.E3740* Nonsense 66/79 - 1
5-13737599-C-G c.11217G>C p.L3739F Missense 66/79 - 1
5-13737599-C-T c.11217G>A p.L3739= Synonymous 66/79 - 1
5-13737600-A-C c.11216T>G p.L3739W Missense 66/79 - 1
5-13737601-A-G c.11215T>C p.L3739= Synonymous 66/79 - 2
5-13737604-C-A c.11212G>T p.E3738* Nonsense 66/79 - 1
5-13737604-C-T c.11212G>A p.E3738K Missense 66/79 - 8
5-13737700-A-G c.11212-96T>C - IntronicSNV - 65/78 5
5-13740976-C-T c.11212-3372G>A - IntronicSNV - 65/78 3
5-13741163-C-A c.11212-3559G>T - IntronicSNV - 65/78 1
5-13741223-A-C c.11212-3619T>G - IntronicSNV - 65/78 1
5-13741223-A-T c.11212-3619T>A - IntronicSNV - 65/78 1
5-13745774-C-A c.11211+5413G>T - IntronicSNV - 65/78 1
5-13750898-A-G c.11211+289T>C - IntronicSNV - 65/78 1
5-13750975-T-C c.11211+212A>G - IntronicSNV - 65/78 1
5-13751186-C-T c.11211+1G>A - IntronicSNV - 65/78 1
5-13751187-C-A c.11211G>T p.Q3737H Missense 65/79 - 1
5-13751187-C-G c.11211G>C p.Q3737H Missense 65/79 - 1
5-13751190-C-A c.11208G>T p.K3736N Missense 65/79 - 2
5-13751195-C-T c.11203G>A p.E3735K Missense 65/79 - 1
5-13751197-G-A c.11201C>T p.T3734I Missense 65/79 - 2
5-13751198-T-G c.11200A>C p.T3734P Missense 65/79 - 5
5-13751201-G-A c.11197C>T p.L3733F Missense 65/79 - 1
5-13751205-G-A c.11193C>T p.V3731= Synonymous 65/79 - 3
5-13751205-G-C c.11193C>G p.V3731= Synonymous 65/79 - 2
5-13751205-G-T c.11193C>A p.V3731= Synonymous 65/79 - 2
5-13751208-C-T c.11190G>A p.R3730= Synonymous 65/79 - 2
5-13751210-T-G c.11188A>C p.R3730= Synonymous 65/79 - 2
5-13751209-C-G c.11189G>C p.R3730T Missense 65/79 - 2
5-13751210-T-C c.11188A>G p.R3730G Missense 65/79 - 3
5-13751222-G-A c.11176C>T p.Q3726* Nonsense 65/79 - 12
5-13751224-T-A c.11174A>T p.D3725V Missense 65/79 - 5
5-13751226-T-A c.11172A>T p.E3724D Missense 65/79 - 1
5-13751232-A-T c.11166T>A p.G3722= Synonymous 65/79 - 2
5-13751234-C-T c.11164G>A p.G3722S Missense 65/79 - 4
5-13751238-C-T c.11160G>A p.M3720I Missense 65/79 - 5
5-13751240-T-G c.11158A>C p.M3720L Missense 65/79 - 1
5-13751241-G-A c.11157C>T p.T3719= Synonymous 65/79 - 1
5-13751241-G-C c.11157C>G p.T3719= Synonymous 65/79 - 1
5-13751241-G-T c.11157C>A p.T3719= Synonymous 65/79 - 1
5-13751243-T-G c.11155A>C p.T3719P Missense 65/79 - 1
5-13751246-C-A c.11152G>T p.V3718F Missense 65/79 - 1
5-13751248-G-A c.11150C>T p.T3717I Missense 65/79 - 1
5-13751250-G-A c.11148C>T p.F3716= Synonymous 65/79 - 1
5-13751251-A-C c.11147T>G p.F3716C Missense 65/79 - 4
5-13751251-A-G c.11147T>C p.F3716S Missense 65/79 - 2
5-13751255-C-A c.11143G>T p.D3715Y Missense 65/79 - 3
5-13751255-C-T c.11143G>A p.D3715N Missense 65/79 - 1
5-13751256-A-C c.11142T>G p.I3714M Missense 65/79 - 1
5-13751258-T-C c.11140A>G p.I3714V Missense 65/79 - 3
5-13751262-G-A c.11136C>T p.S3712= Synonymous 65/79 - 1
5-13751263-G-A c.11135C>T p.S3712F Missense 65/79 - 1
5-13751268-A-C c.11130T>G p.R3710= Synonymous 65/79 - 1
5-13751268-A-G c.11130T>C p.R3710= Synonymous 65/79 - 1
5-13751268-A-T c.11130T>A p.R3710= Synonymous 65/79 - 1
5-13751269-C-T c.11129G>A p.R3710H Missense 65/79 - 1
5-13751270-G-A c.11128C>T p.R3710C Missense 65/79 - 2
5-13751271-G-A c.11127C>T p.A3709= Synonymous 65/79 - 2
5-13751271-G-C c.11127C>G p.A3709= Synonymous 65/79 - 1
5-13751271-G-T c.11127C>A p.A3709= Synonymous 65/79 - 1
5-13751272-G-A c.11126C>T p.A3709V Missense 65/79 - 1
5-13751280-C-T c.11118G>A p.E3706= Synonymous 65/79 - 2
5-13751281-T-A c.11117A>T p.E3706V Missense 65/79 - 4
5-13751282-C-T c.11116G>A p.E3706K Missense 65/79 - 6
5-13751284-G-T c.11114C>A p.P3705H Missense 65/79 - 2
5-13751285-G-A c.11113C>T p.P3705S Missense 65/79 - 5
5-13751292-G-A c.11106C>T p.A3702= Synonymous 65/79 - 1
5-13751292-G-C c.11106C>G p.A3702= Synonymous 65/79 - 1
5-13751292-G-T c.11106C>A p.A3702= Synonymous 65/79 - 1
5-13751293-G-T c.11105C>A p.A3702D Missense 65/79 - 1
5-13751294-C-T c.11104G>A p.A3702T Missense 65/79 - 1
5-13751296-G-A c.11102C>T p.P3701L Missense 65/79 - 6
5-13751296-G-C c.11102C>G p.P3701R Missense 65/79 - 2
5-13751297-G-A c.11101C>T p.P3701S Missense 65/79 - 1
5-13751302-G-T c.11096C>A p.P3699H Missense 65/79 - 1
5-13751303-G-A c.11095C>T p.P3699S Missense 65/79 - 1
5-13751303-G-T c.11095C>A p.P3699T Missense 65/79 - 1
5-13751307-T-A c.11091A>T p.K3697N Missense 65/79 - 1
5-13751307-T-G c.11091A>C p.K3697N Missense 65/79 - 1
5-13751310-G-C c.11088C>G p.T3696= Synonymous 65/79 - 1
5-13751313-G-T c.11085C>A p.T3695= Synonymous 65/79 - 1
5-13751315-T-C c.11083A>G p.T3695A Missense 65/79 - 1
5-13751320-T-C c.11078A>G p.Y3693C Missense 65/79 - 1
5-13751321-A-G c.11077T>C p.Y3693H Missense 65/79 - 1
5-13751329-A-C c.11069T>G p.F3690C Missense 65/79 - 1
5-13751330-A-C c.11068T>G p.F3690V Missense 65/79 - 1
5-13751337-C-T c.11061G>A p.L3687= Synonymous 65/79 - 2
5-13751342-C-T c.11056G>A p.V3686M Missense 65/79 - 1
5-13751350-T-C c.11048A>G p.E3683G Missense 65/79 - 1
5-13751351-C-A c.11047G>T p.E3683* Nonsense 65/79 - 1
5-13751351-C-T c.11047G>A p.E3683K Missense 65/79 - 7
5-13751352-C-A c.11046G>T p.K3682N Missense 65/79 - 3
5-13751352-C-G c.11046G>C p.K3682N Missense 65/79 - 1
5-13751355-G-A c.11043C>T p.D3681= Synonymous 65/79 - 1
5-13751360-C-A c.11038G>T p.G3680C Missense 65/79 - 1
5-13751362-A-T c.11036T>A p.V3679D Missense 65/79 - 1
5-13751364-T-A c.11034A>T p.K3678N Missense 65/79 - 1
5-13751364-T-G c.11034A>C p.K3678N Missense 65/79 - 2
5-13751367-C-T c.11031G>A p.V3677= Synonymous 65/79 - 2
5-13751369-C-T c.11029G>A p.V3677M Missense 65/79 - 1
5-13751371-T-A c.11029-2A>T - IntronicSNV - 64/78 1
5-13752077-C-A c.11028+166G>T - IntronicSNV - 64/78 1
5-13752191-C-T c.11028+52G>A - IntronicSNV - 64/78 1
5-13752241-A-G c.11028+2T>C - IntronicSNV - 64/78 1
5-13752242-C-T c.11028+1G>A - IntronicSNV - 64/78 1
5-13752243-C-T c.11028G>A p.K3676= Synonymous 64/79 - 2
5-13752249-G-A c.11022C>T p.T3674= Synonymous 64/79 - 1
5-13752249-G-C c.11022C>G p.T3674= Synonymous 64/79 - 1
5-13752249-G-T c.11022C>A p.T3674= Synonymous 64/79 - 1
5-13752254-A-G c.11017T>C p.S3673P Missense 64/79 - 1
5-13752256-C-T c.11015G>A p.G3672E Missense 64/79 - 1
5-13752257-C-G c.11014G>C p.G3672R Missense 64/79 - 1
5-13752257-C-T c.11014G>A p.G3672R Missense 64/79 - 1
5-13752261-T-A c.11010A>T p.K3670N Missense 64/79 - 1
5-13752266-T-A c.11005A>T p.I3669F Missense 64/79 - 1
5-13752266-T-C c.11005A>G p.I3669V Missense 64/79 - 1
5-13752267-G-A c.11004C>T p.F3668= Synonymous 64/79 - 5
5-13752268-A-C c.11003T>G p.F3668C Missense 64/79 - 1
5-13752270-G-C c.11001C>G p.N3667K Missense 64/79 - 1
5-13752273-TC-AT c.10997_10998delinsAT p.R3666N Missense 64/79 - 1
5-13752273-TC-GT c.10997_10998delinsAC p.R3666N Missense 64/79 - 5
5-13752274-C-A c.10997G>T p.R3666I Missense 64/79 - 4
5-13752274-C-T c.10997G>A p.R3666K Missense 64/79 - 2
5-13752275-T-C c.10996A>G p.R3666G Missense 64/79 - 1
5-13752278-C-T c.10993G>A p.E3665K Missense 64/79 - 1
5-13752284-C-T c.10987G>A p.V3663I Missense 64/79 - 1
5-13752289-T-C c.10982A>G p.D3661G Missense 64/79 - 1
5-13752290-C-A c.10981G>T p.D3661Y Missense 64/79 - 2
5-13752290-C-T c.10981G>A p.D3661N Missense 64/79 - 1
5-13752301-T-A c.10970A>T p.D3657V Missense 64/79 - 1
5-13752307-T-C c.10964A>G p.E3655G Missense 64/79 - 1
5-13752308-C-T c.10963G>A p.E3655K Missense 64/79 - 12
5-13752311-C-G c.10960G>C p.E3654Q Missense 64/79 - 1
5-13752311-C-T c.10960G>A p.E3654K Missense 64/79 - 1
5-13752313-C-T c.10958G>A p.G3653E Missense 64/79 - 3
5-13752317-C-A c.10954G>T p.V3652F Missense 64/79 - 1
5-13752323-C-T c.10948G>A p.E3650K Missense 64/79 - 2
5-13752327-A-C c.10944T>G p.L3648= Synonymous 64/79 - 1
5-13752327-A-G c.10944T>C p.L3648= Synonymous 64/79 - 1
5-13752327-A-T c.10944T>A p.L3648= Synonymous 64/79 - 1
5-13752328-A-G c.10943T>C p.L3648P Missense 64/79 - 5
5-13752329-G-A c.10942C>T p.L3648F Missense 64/79 - 1
5-13752334-G-T c.10937C>A p.P3646H Missense 64/79 - 3
5-13752335-G-A c.10936C>T p.P3646S Missense 64/79 - 4
5-13752336-CCT-ACA c.10933_10935delinsTGT p.R3645C Missense 64/79 - 2
5-13752336-C-T c.10935G>A p.R3645= Synonymous 64/79 - 1
5-13752337-CT-TG c.10933_10934delinsCA p.R3645Q Missense 64/79 - 1
5-13752338-T-C c.10933A>G p.R3645G Missense 64/79 - 1
5-13752340-C-T c.10931G>A p.G3644E Missense 64/79 - 6
5-13752341-C-A c.10930G>T p.G3644* Nonsense 64/79 - 3
5-13752341-C-T c.10930G>A p.G3644R Missense 64/79 - 1
5-13752343-A-G c.10928T>C p.L3643P Missense 64/79 - 1
5-13752344-G-C c.10927C>G p.L3643V Missense 64/79 - 9
5-13752344-G-T c.10927C>A p.L3643I Missense 64/79 - 1
5-13752346-G-A c.10925C>T p.S3642F Missense 64/79 - 1
5-13752350-G-T c.10921C>A p.L3641I Missense 64/79 - 1
5-13752352-C-T c.10919G>A p.S3640N Missense 64/79 - 2
5-13752359-C-T c.10912G>A p.E3638K Missense 64/79 - 5
5-13752361-A-G c.10910T>C p.L3637P Missense 64/79 - 3
5-13752361-CA-C c.10910del p.L3637Rfs*20 Frameshift 64/79 - 2
5-13752362-G-T c.10909C>A p.L3637M Missense 64/79 - 2
5-13752371-T-C c.10900A>G p.R3634G Missense 64/79 - 1
5-13752372-G-A c.10899C>T p.F3633= Synonymous 64/79 - 4
5-13752376-T-C c.10895A>G p.Y3632C Missense 64/79 - 1
5-13752379-T-A c.10892A>T p.K3631M Missense 64/79 - 1
5-13752381-G-A c.10890C>T p.H3630= Synonymous 64/79 - 1
5-13752383-G-A c.10888C>T p.H3630Y Missense 64/79 - 7
5-13752383-G-C c.10888C>G p.H3630D Missense 64/79 - 1
5-13752391-G-C c.10880C>G p.S3627C Missense 64/79 - 1
5-13752394-G-A c.10877C>T p.T3626M Missense 64/79 - 3
5-13752396-G-A c.10875C>T p.I3625= Synonymous 64/79 - 7
5-13752396-G-T c.10875C>A p.I3625= Synonymous 64/79 - 2
5-13753342-C-T c.10872G>A p.Q3624= Synonymous 63/79 - 3
5-13753344-G-A c.10870C>T p.Q3624* Nonsense 63/79 - 3
5-13753347-G-A c.10867C>T p.L3623F Missense 63/79 - 1
5-13753350-C-T c.10864G>A p.E3622K Missense 63/79 - 10
5-13753355-C-A c.10859G>T p.R3620L Missense 63/79 - 1
5-13753355-C-T c.10859G>A p.R3620Q Missense 63/79 - 24
5-13753356-G-A c.10858C>T p.R3620* Nonsense 63/79 - 2
5-13753361-T-G c.10853A>C p.E3618A Missense 63/79 - 1
5-13753362-C-T c.10852G>A p.E3618K Missense 63/79 - 1
5-13753366-A-T c.10848T>A p.N3616K Missense 63/79 - 1
5-13753372-A-C c.10842T>G p.I3614M Missense 63/79 - 1
5-13753374-T-A c.10840A>T p.I3614F Missense 63/79 - 1
5-13753375-C-A c.10839G>T p.W3613C Missense 63/79 - 1
5-13753375-C-T c.10839G>A p.W3613* Nonsense 63/79 - 2
5-13753378-G-A c.10836C>T p.I3612= Synonymous 63/79 - 2
5-13753379-A-T c.10835T>A p.I3612N Missense 63/79 - 2
5-13753381-C-T c.10833G>A p.K3611= Synonymous 63/79 - 1
5-13753389-G-A c.10825C>T p.Q3609* Nonsense 63/79 - 1
5-13753394-T-G c.10820A>C p.Q3607P Missense 63/79 - 1
5-13753396-TG-T c.10817del p.P3606Hfs*23 Frameshift 63/79 - 1
5-13753398-G-A c.10816C>T p.P3606S Missense 63/79 - 6
5-13753398-G-C c.10816C>G p.P3606A Missense 63/79 - 1
5-13753399-A-C c.10815T>G p.D3605E Missense 63/79 - 1
5-13753399-A-T c.10815T>A p.D3605E Missense 63/79 - 1
5-13753399-GA-G c.10815del p.P3606Hfs*23 Frameshift 63/79 - 17
5-13753401-C-A c.10813G>T p.D3605Y Missense 63/79 - 1
5-13753401-C-T c.10813G>A p.D3605N Missense 63/79 - 3
5-13753401-C-CA c.10812dup p.D3605* Nonsense 63/79 - 2
5-13753408-C-T c.10806G>A p.L3602= Synonymous 63/79 - 1
5-13753411-A-C c.10803T>G p.P3601= Synonymous 63/79 - 1
5-13753411-A-G c.10803T>C p.P3601= Synonymous 63/79 - 1
5-13753411-A-T c.10803T>A p.P3601= Synonymous 63/79 - 2
5-13753412-G-A c.10802C>T p.P3601L Missense 63/79 - 5
5-13753412-GG-AA c.10801_10802delinsTT p.P3601F Missense 63/79 - 1
5-13753413-G-A c.10801C>T p.P3601S Missense 63/79 - 3
5-13753415-T-C c.10799A>G p.Y3600C Missense 63/79 - 2
5-13753418-C-A c.10796G>T p.R3599L Missense 63/79 - 1
5-13753418-C-G c.10796G>C p.R3599P Missense 63/79 - 4
5-13753418-C-T c.10796G>A p.R3599H Missense 63/79 - 4
5-13753419-G-A c.10795C>T p.R3599C Missense 63/79 - 9
5-13753421-G-T c.10793C>A p.S3598Y Missense 63/79 - 1
5-13753425-C-A c.10789G>T p.A3597S Missense 63/79 - 1
5-13753425-C-T c.10789G>A p.A3597T Missense 63/79 - 2
5-13753427-T-A c.10787A>T p.K3596M Missense 63/79 - 1
5-13753429-C-A c.10785G>T p.T3595= Synonymous 63/79 - 2
5-13753429-C-G c.10785G>C p.T3595= Synonymous 63/79 - 1
5-13753429-C-T c.10785G>A p.T3595= Synonymous 63/79 - 5
5-13753430-G-A c.10784C>T p.T3595M Missense 63/79 - 4
5-13753437-T-C c.10777A>G p.I3593V Missense 63/79 - 1
5-13753440-T-G c.10774A>C p.I3592L Missense 63/79 - 1
5-13753442-C-A c.10772G>T p.G3591V Missense 63/79 - 1
5-13753442-C-T c.10772G>A p.G3591E Missense 63/79 - 8
5-13753443-C-G c.10771G>C p.G3591R Missense 63/79 - 2
5-13753443-C-T c.10771G>A p.G3591R Missense 63/79 - 8
5-13753449-G-T c.10765C>A p.Q3589K Missense 63/79 - 1
5-13753453-G-A c.10761C>T p.S3587= Synonymous 63/79 - 1
5-13753454-G-A c.10760C>T p.S3587F Missense 63/79 - 1
5-13753454-G-T c.10760C>A p.S3587Y Missense 63/79 - 2
5-13753464-C-T c.10750G>A p.D3584N Missense 63/79 - 6
5-13753473-G-A c.10741C>T p.L3581= Synonymous 63/79 - 1
5-13753475-C-G c.10739G>C p.G3580A Missense 63/79 - 1
5-13753476-C-A c.10738G>T p.G3580C Missense 63/79 - 1
5-13753479-G-T c.10735C>A p.Q3579K Missense 63/79 - 5
5-13753483-G-C c.10731C>G p.N3577K Missense 63/79 - 1
5-13753485-T-C c.10729A>G p.N3577D Missense 63/79 - 1
5-13753486-C-T c.10728G>A p.W3576* Nonsense 63/79 - 3
5-13753487-C-T c.10727G>A p.W3576* Nonsense 63/79 - 5
5-13753490-T-G c.10724A>C p.E3575A Missense 63/79 - 1
5-13753491-C-T c.10723G>A p.E3575K Missense 63/79 - 1
5-13753494-TA-T c.10719del p.S3574Vfs*30 Frameshift 63/79 - 1
5-13753497-T-C c.10717A>G p.I3573V Missense 63/79 - 1
5-13753496-ATAG-A c.10715_10717del p.T3572del InFrameDeletion 63/79 - 1
5-13753500-T-TAAGAAG c.10713_10714insCTTCTT p.P3571_T3572insLL InFrameInsertion 63/79 - 1
5-13753502-G-A c.10712C>T p.P3571L Missense 63/79 - 2
5-13753503-G-C c.10711C>G p.P3571A Missense 63/79 - 1
5-13753507-A-G c.10707T>C p.D3569= Synonymous 63/79 - 1
5-13753508-T-C c.10706A>G p.D3569G Missense 63/79 - 1
5-13753509-C-T c.10705G>A p.D3569N Missense 63/79 - 1
5-13753511-A-G c.10703T>C p.I3568T Missense 63/79 - 1
5-13753513-C-T c.10701G>A p.L3567= Synonymous 63/79 - 1
5-13753514-A-G c.10700T>C p.L3567S Missense 63/79 - 1
5-13753516-C-A c.10698G>T p.M3566I Missense 63/79 - 1
5-13753516-C-G c.10698G>C p.M3566I Missense 63/79 - 1
5-13753516-C-T c.10698G>A p.M3566I Missense 63/79 - 2
5-13753519-C-A c.10695G>T p.E3565D Missense 63/79 - 1
5-13753519-C-G c.10695G>C p.E3565D Missense 63/79 - 1
5-13753527-G-C c.10687C>G p.L3563V Missense 63/79 - 1
5-13753535-T-A c.10679A>T p.N3560I Missense 63/79 - 2
5-13753537-C-A c.10677G>T p.K3559N Missense 63/79 - 1
5-13753537-C-G c.10677G>C p.K3559N Missense 63/79 - 1
5-13753537-C-T c.10677G>A p.K3559= Synonymous 63/79 - 2
5-13753538-T-A c.10676A>T p.K3559M Missense 63/79 - 2
5-13753541-CC-AT c.10672_10673delinsAT p.G3558I Missense 63/79 - 1
5-13753541-C-G c.10673G>C p.G3558A Missense 63/79 - 1
5-13753541-C-T c.10673G>A p.G3558E Missense 63/79 - 2
5-13753546-T-A c.10668A>T p.P3556= Synonymous 63/79 - 1
5-13753546-T-C c.10668A>G p.P3556= Synonymous 63/79 - 3
5-13753546-T-G c.10668A>C p.P3556= Synonymous 63/79 - 1
5-13753547-G-A c.10667C>T p.P3556L Missense 63/79 - 12
5-13753548-G-A c.10666C>T p.P3556S Missense 63/79 - 8
5-13753549-A-G c.10665T>C p.I3555= Synonymous 63/79 - 1
5-13753555-C-T c.10659G>A p.R3553= Synonymous 63/79 - 6
5-13753556-C-A c.10658G>T p.R3553L Missense 63/79 - 1
5-13753556-C-T c.10658G>A p.R3553Q Missense 63/79 - 6
5-13753555-C-A c.10659G>T p.R3553= Synonymous 63/79 - 1
5-13753555-C-G c.10659G>C p.R3553= Synonymous 63/79 - 1
5-13753557-G-A c.10657C>T p.R3553W Missense 63/79 - 11
5-13753557-G-T c.10657C>A p.R3553= Synonymous 63/79 - 2
5-13753558-G-C c.10656C>G p.A3552= Synonymous 63/79 - 1
5-13753558-G-T c.10656C>A p.A3552= Synonymous 63/79 - 1
5-13753560-C-A c.10654G>T p.A3552S Missense 63/79 - 2
5-13753560-C-T c.10654G>A p.A3552T Missense 63/79 - 6
5-13753564-C-T c.10650G>A p.M3550I Missense 63/79 - 4
5-13753568-T-C c.10646A>G p.E3549G Missense 63/79 - 3
5-13753569-C-T c.10645G>A p.E3549K Missense 63/79 - 14
5-13753570-C-T c.10644G>A p.K3548= Synonymous 63/79 - 4
5-13753572-T-G c.10642A>C p.K3548Q Missense 63/79 - 1
5-13753574-C-T c.10640G>A p.R3547Q Missense 63/79 - 4
5-13753573-C-A c.10641G>T p.R3547= Synonymous 63/79 - 1
5-13753573-C-G c.10641G>C p.R3547= Synonymous 63/79 - 1
5-13753573-C-T c.10641G>A p.R3547= Synonymous 63/79 - 1
5-13753575-G-A c.10639C>T p.R3547W Missense 63/79 - 2
5-13753575-G-T c.10639C>A p.R3547= Synonymous 63/79 - 1
5-13753581-C-T c.10633G>A p.D3545N Missense 63/79 - 1
5-13753585-T-C c.10629A>G p.L3543= Synonymous 63/79 - 1
5-13753587-A-G c.10627T>C p.L3543= Synonymous 63/79 - 1
5-13753588-C-A c.10626G>T p.L3542= Synonymous 63/79 - 1
5-13753588-CAG-AAA c.10624_10626delinsTTT p.L3542F Missense 63/79 - 1
5-13753588-C-G c.10626G>C p.L3542= Synonymous 63/79 - 1
5-13753588-C-T c.10626G>A p.L3542= Synonymous 63/79 - 1
5-13753590-G-A c.10624C>T p.L3542= Synonymous 63/79 - 2
5-13753593-G-C c.10621C>G p.L3541V Missense 63/79 - 1
5-13753596-C-G c.10618G>C p.D3540H Missense 63/79 - 1
5-13753596-C-T c.10618G>A p.D3540N Missense 63/79 - 3
5-13753597-A-C c.10617T>G p.R3539= Synonymous 63/79 - 2
5-13753597-A-G c.10617T>C p.R3539= Synonymous 63/79 - 2
5-13753597-A-T c.10617T>A p.R3539= Synonymous 63/79 - 2
5-13753598-C-T c.10616G>A p.R3539H Missense 63/79 - 10
5-13753599-G-A c.10615C>T p.R3539C Missense 63/79 - 20
5-13753599-G-T c.10615C>A p.R3539S Missense 63/79 - 2
5-13753601-A-C c.10613T>G p.F3538C Missense 63/79 - 1
5-13753602-A-C c.10612T>G p.F3538V Missense 63/79 - 1
5-13753603-C-A c.10611G>T p.E3537D Missense 63/79 - 1
5-13753603-C-G c.10611G>C p.E3537D Missense 63/79 - 1
5-13753604-T-C c.10610A>G p.E3537G Missense 63/79 - 2
5-13753616-G-A c.10598C>T p.P3533L Missense 63/79 - 7
5-13753620-C-T c.10594G>A p.G3532S Missense 63/79 - 1
5-13753621-A-C c.10593T>G p.S3531= Synonymous 63/79 - 1
5-13753621-A-G c.10593T>C p.S3531= Synonymous 63/79 - 1
5-13753621-A-T c.10593T>A p.S3531= Synonymous 63/79 - 1
5-13753622-G-A c.10592C>T p.S3531F Missense 63/79 - 3
5-13753622-G-C c.10592C>G p.S3531C Missense 63/79 - 1
5-13753628-G-A c.10586C>T p.S3529F Missense 63/79 - 2
5-13753628-G-C c.10586C>G p.S3529C Missense 63/79 - 3
5-13753632-G-A c.10582C>T p.L3528= Synonymous 63/79 - 1
5-13753637-G-A c.10577C>T p.A3526V Missense 63/79 - 5
5-13753637-G-T c.10577C>A p.A3526D Missense 63/79 - 1
5-13753638-C-A c.10576G>T p.A3526S Missense 63/79 - 1
5-13753638-C-T c.10576G>A p.A3526T Missense 63/79 - 5
5-13753640-G-T c.10574C>A p.T3525K Missense 63/79 - 1
5-13753645-C-A c.10569G>T p.L3523F Missense 63/79 - 1
5-13753648-C-A c.10566G>T p.L3522= Synonymous 63/79 - 1
5-13753648-C-G c.10566G>C p.L3522= Synonymous 63/79 - 1
5-13753648-C-T c.10566G>A p.L3522= Synonymous 63/79 - 1
5-13753650-G-A c.10564C>T p.L3522= Synonymous 63/79 - 1
5-13753654-A-C c.10560T>G p.D3520E Missense 63/79 - 2
5-13753654-A-T c.10560T>A p.D3520E Missense 63/79 - 1
5-13753656-C-T c.10558G>A p.D3520N Missense 63/79 - 5
5-13753658-C-T c.10556G>A p.G3519E Missense 63/79 - 4
5-13754311-C-A c.10555+1G>T - IntronicSNV - 62/78 1
5-13754312-C-G c.10555G>C p.G3519R Missense 62/79 - 2
5-13754312-C-T c.10555G>A p.G3519R Missense 62/79 - 1
5-13754320-C-A c.10547G>T p.R3516I Missense 62/79 - 7
5-13754324-T-C c.10543A>G p.K3515E Missense 62/79 - 1
5-13754326-G-A c.10541C>T p.T3514I Missense 62/79 - 1
5-13754330-G-A c.10537C>T p.Q3513* Nonsense 62/79 - 2
5-13754335-G-A c.10532C>T p.A3511V Missense 62/79 - 1
5-13754342-C-T c.10525G>A p.E3509K Missense 62/79 - 2
5-13754346-G-C c.10521C>G p.S3507R Missense 62/79 - 1
5-13754346-G-T c.10521C>A p.S3507R Missense 62/79 - 1
5-13754348-T-G c.10519A>C p.S3507R Missense 62/79 - 1
5-13754354-C-T c.10513G>A p.E3505K Missense 62/79 - 5
5-13754356-G-T c.10511C>A p.T3504K Missense 62/79 - 1
5-13754358-C-T c.10509G>A p.W3503* Nonsense 62/79 - 6
5-13754359-C-T c.10508G>A p.W3503* Nonsense 62/79 - 1
5-13754362-CT-C c.10504del p.R3502Dfs*17 Frameshift 62/79 - 1
5-13754366-C-T c.10501G>A p.E3501K Missense 62/79 - 3
5-13754367-T-C c.10500A>G p.K3500= Synonymous 62/79 - 2
5-13754367-T-G c.10500A>C p.K3500N Missense 62/79 - 1
5-13754372-C-T c.10495G>A p.E3499K Missense 62/79 - 10
5-13754375-C-T c.10492G>A p.G3498S Missense 62/79 - 1
5-13754378-C-T c.10489G>A p.A3497T Missense 62/79 - 1
5-13754379-C-A c.10488G>T p.L3496F Missense 62/79 - 2
5-13754379-C-G c.10488G>C p.L3496F Missense 62/79 - 2
5-13754386-C-T c.10481G>A p.S3494N Missense 62/79 - 1
5-13754394-C-A c.10473G>T p.T3491= Synonymous 62/79 - 1
5-13754394-C-G c.10473G>C p.T3491= Synonymous 62/79 - 1
5-13754394-C-T c.10473G>A p.T3491= Synonymous 62/79 - 17
5-13754395-G-A c.10472C>T p.T3491M Missense 62/79 - 1
5-13754396-GTGGA-G c.10468_10471del p.S3490Rfs*28 Frameshift 62/79 - 1
5-13754396-T-A c.10471A>T p.T3491S Missense 62/79 - 1
5-13754397-G-A c.10470C>T p.S3490= Synonymous 62/79 - 1
5-13754398-G-A c.10469C>T p.S3490F Missense 62/79 - 1
5-13754410-A-G c.10457T>C p.M3486T Missense 62/79 - 4
5-13754402-CTGTCTGCATCTTG-C c.10452_10464del p.H3484Qfs*31 Frameshift 62/79 - 1
5-13754416-T-A c.10451A>T p.H3484L Missense 62/79 - 1
5-13754423-A-G c.10444T>C p.C3482R Missense 62/79 - 1
5-13754425-C-T c.10442G>A p.R3481Q Missense 62/79 - 10
5-13754426-G-A c.10441C>T p.R3481* Nonsense 62/79 - 4
5-13754429-C-A c.10438G>T p.E3480* Nonsense 62/79 - 3
5-13754431-G-C c.10436C>G p.A3479G Missense 62/79 - 1
5-13754432-C-T c.10435G>A p.A3479T Missense 62/79 - 1
5-13754435-C-G c.10432G>C p.D3478H Missense 62/79 - 1
5-13754435-C-T c.10432G>A p.D3478N Missense 62/79 - 1
5-13754442-C-A c.10425G>T p.L3475F Missense 62/79 - 1
5-13754446-G-A c.10421C>T p.T3474I Missense 62/79 - 6
5-13758955-C-A c.10419G>T p.Q3473H Missense 61/79 - 5
5-13758955-C-G c.10419G>C p.Q3473H Missense 61/79 - 2
5-13758957-G-A c.10417C>T p.Q3473* Nonsense 61/79 - 1
5-13758958-C-T c.10416G>A p.K3472= Synonymous 61/79 - 1
5-13758959-T-C c.10415A>G p.K3472R Missense 61/79 - 1
5-13758959-T-G c.10415A>C p.K3472T Missense 61/79 - 1
5-13758962-T-G c.10412A>C p.E3471A Missense 61/79 - 1
5-13758963-C-T c.10411G>A p.E3471K Missense 61/79 - 4
5-13758965-GT-CC c.10408_10409delinsGG p.T3470G Missense 61/79 - 1
5-13758967-C-A c.10407G>T p.M3469I Missense 61/79 - 3
5-13758967-C-G c.10407G>C p.M3469I Missense 61/79 - 2
5-13758967-C-T c.10407G>A p.M3469I Missense 61/79 - 2
5-13758970-G-C c.10404C>G p.A3468= Synonymous 61/79 - 1
5-13758972-C-A c.10402G>T p.A3468S Missense 61/79 - 1
5-13758972-C-T c.10402G>A p.A3468T Missense 61/79 - 2
5-13758975-G-A c.10399C>T p.Q3467* Nonsense 61/79 - 1
5-13758976-T-C c.10398A>G p.E3466= Synonymous 61/79 - 1
5-13758978-C-G c.10396G>C p.E3466Q Missense 61/79 - 2
5-13758978-C-T c.10396G>A p.E3466K Missense 61/79 - 2
5-13758983-T-C c.10391A>G p.E3464G Missense 61/79 - 1
5-13758984-C-G c.10390G>C p.E3464Q Missense 61/79 - 1
5-13758990-G-A c.10384C>T p.Q3462* Nonsense 61/79 - 6
5-13758992-A-G c.10382T>C p.V3461A Missense 61/79 - 1
5-13758993-C-T c.10381G>A p.V3461M Missense 61/79 - 1
5-13758996-C-T c.10378G>A p.V3460M Missense 61/79 - 2
5-13758997-G-A c.10377C>T p.D3459= Synonymous 61/79 - 1
5-13758998-T-A c.10376A>T p.D3459V Missense 61/79 - 1
5-13759001-A-G c.10373T>C p.L3458P Missense 61/79 - 1
5-13759005-C-T c.10369G>A p.E3457K Missense 61/79 - 3
5-13759006-C-A c.10368G>T p.A3456= Synonymous 61/79 - 3
5-13759006-C-G c.10368G>C p.A3456= Synonymous 61/79 - 3
5-13759006-C-T c.10368G>A p.A3456= Synonymous 61/79 - 6
5-13759007-G-A c.10367C>T p.A3456V Missense 61/79 - 6
5-13759008-C-T c.10366G>A p.A3456T Missense 61/79 - 1
5-13759009-C-T c.10365G>A p.Q3455= Synonymous 61/79 - 1
5-13759011-G-C c.10363C>G p.Q3455E Missense 61/79 - 1
5-13759020-C-T c.10354G>A p.D3452N Missense 61/79 - 3
5-13759023-A-G c.10351T>C p.L3451= Synonymous 61/79 - 1
5-13759025-T-C c.10349A>G p.E3450G Missense 61/79 - 1
5-13759026-C-T c.10348G>A p.E3450K Missense 61/79 - 4
5-13759027-G-A c.10347C>T p.A3449= Synonymous 61/79 - 7
5-13759027-G-C c.10347C>G p.A3449= Synonymous 61/79 - 4
5-13759027-G-T c.10347C>A p.A3449= Synonymous 61/79 - 3
5-13759034-G-A c.10340C>T p.A3447V Missense 61/79 - 1
5-13759035-C-A c.10339G>T p.A3447S Missense 61/79 - 1
5-13759037-T-A c.10337A>T p.K3446I Missense 61/79 - 1
5-13759042-C-A c.10332G>T p.L3444= Synonymous 61/79 - 1
5-13759047-C-G c.10327G>C p.D3443H Missense 61/79 - 3
5-13759047-C-T c.10327G>A p.D3443N Missense 61/79 - 8
5-13759051-C-T c.10323G>A p.M3441I Missense 61/79 - 5
5-13759052-A-G c.10322T>C p.M3441T Missense 61/79 - 1
5-13759053-T-C c.10321A>G p.M3441V Missense 61/79 - 1
5-13759056-C-A c.10318G>T p.A3440S Missense 61/79 - 1
5-13759056-C-T c.10318G>A p.A3440T Missense 61/79 - 2
5-13759057-C-T c.10317G>A p.L3439= Synonymous 61/79 - 1
5-13759058-A-G c.10316T>C p.L3439P Missense 61/79 - 2
5-13759058-A-T c.10316T>A p.L3439Q Missense 61/79 - 1
5-13759060-G-A c.10314C>T p.L3438= Synonymous 61/79 - 7
5-13759060-G-C c.10314C>G p.L3438= Synonymous 61/79 - 3
5-13759060-G-T c.10314C>A p.L3438= Synonymous 61/79 - 3
5-13759062-G-A c.10312C>T p.L3438F Missense 61/79 - 6
5-13759065-G-T c.10309C>A p.H3437N Missense 61/79 - 4
5-13759067-C-T c.10307G>A p.R3436H Missense 61/79 - 7
5-13759068-G-A c.10306C>T p.R3436C Missense 61/79 - 8
5-13759068-G-T c.10306C>A p.R3436S Missense 61/79 - 1
5-13759072-C-A c.10302G>T p.E3434D Missense 61/79 - 1
5-13759072-C-T c.10302G>A p.E3434= Synonymous 61/79 - 2
5-13759074-C-T c.10300G>A p.E3434K Missense 61/79 - 4
5-13759076-T-A c.10298A>T p.Q3433L Missense 61/79 - 3
5-13759080-C-A c.10294G>T p.V3432L Missense 61/79 - 4
5-13759083-C-T c.10291G>A p.V3431M Missense 61/79 - 1
5-13759084-C-T c.10290G>A p.L3430= Synonymous 61/79 - 1
5-13759086-A-G c.10288T>C p.L3430= Synonymous 61/79 - 1
5-13759087-G-C c.10287C>G p.N3429K Missense 61/79 - 1
5-13759087-G-T c.10287C>A p.N3429K Missense 61/79 - 1
5-13759089-T-C c.10285A>G p.N3429D Missense 61/79 - 1
5-13761643-G-A c.10281+1188C>T - IntronicSNV - 60/78 1
5-13762713-T-C c.10281+118A>G - IntronicSNV - 60/78 4
5-13762736-G-T c.10281+95C>A - IntronicSNV - 60/78 1
5-13762831-C-T c.10281G>A p.K3427= Synonymous 60/79 - 4
5-13762836-G-C c.10276C>G p.L3426V Missense 60/79 - 8
5-13762837-A-C c.10275T>G p.P3425= Synonymous 60/79 - 1
5-13762837-A-G c.10275T>C p.P3425= Synonymous 60/79 - 1
5-13762837-A-T c.10275T>A p.P3425= Synonymous 60/79 - 1
5-13762839-G-A c.10273C>T p.P3425S Missense 60/79 - 1
5-13762846-T-A c.10266A>T p.E3422D Missense 60/79 - 1
5-13762846-T-G c.10266A>C p.E3422D Missense 60/79 - 1
5-13762853-T-C c.10259A>G p.N3420S Missense 60/79 - 1
5-13762854-T-G c.10258A>C p.N3420H Missense 60/79 - 1
5-13762855-T-C c.10257A>G p.I3419M Missense 60/79 - 6
5-13762857-T-C c.10255A>G p.I3419V Missense 60/79 - 1
5-13762859-G-C c.10253C>G p.S3418C Missense 60/79 - 1
5-13762859-G-T c.10253C>A p.S3418Y Missense 60/79 - 1
5-13762862-A-G c.10250T>C p.F3417S Missense 60/79 - 1
5-13762861-A-T c.10251T>A p.F3417L Missense 60/79 - 1
5-13762864-G-A c.10248C>T p.F3416= Synonymous 60/79 - 5
5-13762865-A-G c.10247T>C p.F3416S Missense 60/79 - 1
5-13762864-G-C c.10248C>G p.F3416L Missense 60/79 - 1
5-13762864-G-T c.10248C>A p.F3416L Missense 60/79 - 1
5-13762866-A-C c.10246T>G p.F3416V Missense 60/79 - 1
5-13762866-A-G c.10246T>C p.F3416L Missense 60/79 - 1
5-13762868-G-A c.10244C>T p.S3415F Missense 60/79 - 5
5-13762879-T-A c.10233A>T p.K3411N Missense 60/79 - 1
5-13762880-TTTCGTCCAGGAACAA-T c.10218_10232del p.C3407_K3411del InFrameDeletion 60/79 - 1
5-13762882-C-A c.10230G>T p.T3410= Synonymous 60/79 - 4
5-13762882-C-G c.10230G>C p.T3410= Synonymous 60/79 - 4
5-13762882-C-T c.10230G>A p.T3410= Synonymous 60/79 - 13
5-13762883-G-A c.10229C>T p.T3410M Missense 60/79 - 3
5-13762885-C-A c.10227G>T p.W3409C Missense 60/79 - 1
5-13762885-C-G c.10227G>C p.W3409C Missense 60/79 - 1
5-13762885-C-T c.10227G>A p.W3409* Nonsense 60/79 - 3
5-13762886-C-G c.10226G>C p.W3409S Missense 60/79 - 6
5-13762886-C-T c.10226G>A p.W3409* Nonsense 60/79 - 2
5-13762889-G-A c.10223C>T p.S3408F Missense 60/79 - 6
5-13762895-A-G c.10217T>C p.L3406P Missense 60/79 - 1
5-13762896-G-A c.10216C>T p.L3406F Missense 60/79 - 1
5-13762899-C-G c.10213G>C p.G3405R Missense 60/79 - 3
5-13762901-G-T c.10211C>A p.A3404D Missense 60/79 - 1
5-13762903-T-A c.10209A>T p.V3403= Synonymous 60/79 - 1
5-13762903-T-C c.10209A>G p.V3403= Synonymous 60/79 - 1
5-13762903-T-G c.10209A>C p.V3403= Synonymous 60/79 - 1
5-13762910-C-T c.10202G>A p.G3401E Missense 60/79 - 6
5-13762911-C-T c.10201G>A p.G3401R Missense 60/79 - 3
5-13762913-CA-GC c.10198_10199delinsGC p.C3400A Missense 60/79 - 1
5-13762916-A-G c.10196T>C p.V3399A Missense 60/79 - 1
5-13762917-C-T c.10195G>A p.V3399I Missense 60/79 - 6
5-13762918-G-A c.10194C>T p.R3398= Synonymous 60/79 - 7
5-13762918-G-C c.10194C>G p.R3398= Synonymous 60/79 - 2
5-13762918-G-T c.10194C>A p.R3398= Synonymous 60/79 - 2
5-13762919-C-T c.10193G>A p.R3398H Missense 60/79 - 3
5-13762920-G-A c.10192C>T p.R3398C Missense 60/79 - 1
5-13762921-T-A c.10191A>T p.K3397N Missense 60/79 - 1
5-13762921-T-C c.10191A>G p.K3397= Synonymous 60/79 - 4
5-13762921-T-G c.10191A>C p.K3397N Missense 60/79 - 1
5-13762922-T-C c.10190A>G p.K3397R Missense 60/79 - 1
5-13762923-T-A c.10189A>T p.K3397* Nonsense 60/79 - 2
5-13762927-AGTTTCGAT-A c.10177_10184del p.I3393Cfs*2 Frameshift 60/79 - 1
5-13762931-T-C c.10181A>G p.E3394G Missense 60/79 - 1
5-13762932-C-T c.10180G>A p.E3394K Missense 60/79 - 20
5-13762933-G-A c.10179C>T p.I3393= Synonymous 60/79 - 4
5-13762933-G-T c.10179C>A p.I3393= Synonymous 60/79 - 1
5-13762943-T-C c.10169A>G p.D3390G Missense 60/79 - 2
5-13762944-C-A c.10168G>T p.D3390Y Missense 60/79 - 2
5-13762946-G-A c.10166C>T p.P3389L Missense 60/79 - 1
5-13762947-G-A c.10165C>T p.P3389S Missense 60/79 - 1
5-13762953-C-T c.10159G>A p.E3387K Missense 60/79 - 4
5-13762961-G-A c.10151C>T p.P3384L Missense 60/79 - 1
5-13762971-A-C c.10141T>G p.F3381V Missense 60/79 - 1
5-13762972-T-C c.10140A>G p.E3380= Synonymous 60/79 - 13
5-13762974-C-A c.10138G>T p.E3380* Nonsense 60/79 - 1
5-13762974-C-T c.10138G>A p.E3380K Missense 60/79 - 5
5-13762978-C-T c.10134G>A p.V3378= Synonymous 60/79 - 3
5-13762983-C-G c.10129G>C p.E3377Q Missense 60/79 - 5
5-13762983-C-T c.10129G>A p.E3377K Missense 60/79 - 4
5-13762984-T-C c.10128A>G p.E3376= Synonymous 60/79 - 1
5-13762984-T-G c.10128A>C p.E3376D Missense 60/79 - 2
5-13762985-T-G c.10127A>C p.E3376A Missense 60/79 - 2
5-13762986-C-T c.10126G>A p.E3376K Missense 60/79 - 1
5-13762990-G-A c.10122C>T p.I3374= Synonymous 60/79 - 2
5-13762996-G-A c.10116C>T p.D3372= Synonymous 60/79 - 1
5-13762997-T-C c.10115A>G p.D3372G Missense 60/79 - 1
5-13762998-C-T c.10114G>A p.D3372N Missense 60/79 - 2
5-13763002-T-A c.10110A>T p.P3370= Synonymous 60/79 - 1
5-13763004-G-A c.10108C>T p.P3370S Missense 60/79 - 2
5-13763005-G-A c.10107C>T p.F3369= Synonymous 60/79 - 5
5-13763005-G-T c.10107C>A p.F3369L Missense 60/79 - 6
5-13763005-G-C c.10107C>G p.F3369L Missense 60/79 - 5
5-13763007-A-G c.10105T>C p.F3369L Missense 60/79 - 5
5-13763008-T-C c.10104A>G p.Q3368= Synonymous 60/79 - 1
5-13763039-G-A c.10102-29C>T - IntronicSNV - 59/78 6
5-13764419-G-A c.10102-1409C>T - IntronicSNV - 59/78 3
5-13766085-C-T c.10101G>A p.Q3367= Synonymous 59/79 - 3
5-13766088-T-A c.10098A>T p.L3366F Missense 59/79 - 1
5-13766090-A-C c.10096T>G p.L3366V Missense 59/79 - 3
5-13766099-A-G c.10087T>C p.L3363= Synonymous 59/79 - 1
5-13766101-A-G c.10085T>C p.F3362S Missense 59/79 - 4
5-13766102-A-T c.10084T>A p.F3362I Missense 59/79 - 3
5-13766104-T-C c.10082A>G p.N3361S Missense 59/79 - 1
5-13766105-T-TA c.10080_10081insT p.N3361* Nonsense 59/79 - 1
5-13766106-C-T c.10080G>A p.G3360= Synonymous 59/79 - 4
5-13766107-C-T c.10079G>A p.G3360E Missense 59/79 - 1
5-13766109-T-A c.10077A>T p.A3359= Synonymous 59/79 - 2
5-13766109-TGC-ACA c.10075_10077delinsTGT p.A3359C Missense 59/79 - 1
5-13766111-C-A c.10075G>T p.A3359S Missense 59/79 - 1
5-13766118-C-T c.10068G>A p.L3356= Synonymous 59/79 - 3
5-13766120-A-G c.10066T>C p.L3356= Synonymous 59/79 - 1
5-13766120-A-T c.10066T>A p.L3356M Missense 59/79 - 1
5-13766121-T-A c.10065A>T p.K3355N Missense 59/79 - 1
5-13766121-T-G c.10065A>C p.K3355N Missense 59/79 - 1
5-13766127-G-A c.10059C>T p.S3353= Synonymous 59/79 - 1
5-13766128-G-A c.10058C>T p.S3353F Missense 59/79 - 6
5-13766129-A-T c.10057T>A p.S3353T Missense 59/79 - 1
5-13766132-C-T c.10054G>A p.E3352K Missense 59/79 - 9
5-13766133-C-A c.10053G>T p.Q3351H Missense 59/79 - 1
5-13766133-C-G c.10053G>C p.Q3351H Missense 59/79 - 1
5-13766133-C-T c.10053G>A p.Q3351= Synonymous 59/79 - 5
5-13766135-G-T c.10051C>A p.Q3351K Missense 59/79 - 1
5-13766140-G-A c.10046C>T p.S3349F Missense 59/79 - 1
5-13766141-A-C c.10045T>G p.S3349A Missense 59/79 - 1
5-13766142-G-A c.10044C>T p.P3348= Synonymous 59/79 - 1
5-13766143-G-A c.10043C>T p.P3348L Missense 59/79 - 1
5-13766144-G-A c.10042C>T p.P3348S Missense 59/79 - 1
5-13766145-C-A c.10041G>T p.M3347I Missense 59/79 - 2
5-13766145-C-G c.10041G>C p.M3347I Missense 59/79 - 2
5-13766145-C-T c.10041G>A p.M3347I Missense 59/79 - 2
5-13766147-T-C c.10039A>G p.M3347V Missense 59/79 - 1
5-13766148-G-A c.10038C>T p.T3346= Synonymous 59/79 - 1
5-13766149-G-A c.10037C>T p.T3346I Missense 59/79 - 1
5-13766149-G-C c.10037C>G p.T3346S Missense 59/79 - 2
5-13766150-T-A c.10036A>T p.T3346S Missense 59/79 - 1
5-13766150-T-C c.10036A>G p.T3346A Missense 59/79 - 2
5-13766151-A-G c.10035T>C p.C3345= Synonymous 59/79 - 1
5-13766158-T-A c.10028A>T p.K3343I Missense 59/79 - 4
5-13766162-C-T c.10024G>A p.E3342K Missense 59/79 - 8
5-13766165-G-C c.10021C>G p.L3341V Missense 59/79 - 1
5-13766175-C-A c.10011G>T p.V3337= Synonymous 59/79 - 1
5-13766175-C-G c.10011G>C p.V3337= Synonymous 59/79 - 1
5-13766175-C-T c.10011G>A p.V3337= Synonymous 59/79 - 6
5-13766177-C-T c.10009G>A p.V3337M Missense 59/79 - 1
5-13766181-A-T c.10005T>A p.S3335R Missense 59/79 - 1
5-13766182-C-A c.10004G>T p.S3335I Missense 59/79 - 1
5-13766184-G-A c.10002C>T p.V3334= Synonymous 59/79 - 4
5-13766186-C-T c.10000G>A p.V3334I Missense 59/79 - 1
5-13766188-T-A c.9998A>T p.K3333I Missense 59/79 - 3
5-13766189-T-A c.9997A>T p.K3333* Nonsense 59/79 - 4
5-13766190-C-T c.9996G>A p.R3332= Synonymous 59/79 - 1
5-13766191-C-T c.9995G>A p.R3332K Missense 59/79 - 2
5-13766193-T-C c.9993A>G p.Q3331= Synonymous 59/79 - 1
5-13766195-G-A c.9991C>T p.Q3331* Nonsense 59/79 - 4
5-13766199-C-T c.9987G>A p.L3329= Synonymous 59/79 - 1
5-13766200-A-G c.9986T>C p.L3329P Missense 59/79 - 1
5-13766201-G-A c.9985C>T p.L3329= Synonymous 59/79 - 1
5-13766202-CAG-GAT c.9982_9984delinsATC p.L3328I Missense 59/79 - 1
5-13766204-G-A c.9982C>T p.L3328= Synonymous 59/79 - 4
5-13766210-C-T c.9976G>A p.V3326I Missense 59/79 - 3
5-13766212-C-T c.9974G>A p.C3325Y Missense 59/79 - 3
5-13766214-A-C c.9972T>G p.D3324E Missense 59/79 - 2
5-13766214-A-T c.9972T>A p.D3324E Missense 59/79 - 1
5-13766216-C-T c.9970G>A p.D3324N Missense 59/79 - 6
5-13766217-C-A c.9969G>T p.M3323I Missense 59/79 - 2
5-13766217-C-G c.9969G>C p.M3323I Missense 59/79 - 2
5-13766217-C-T c.9969G>A p.M3323I Missense 59/79 - 5
5-13766218-A-T c.9968T>A p.M3323K Missense 59/79 - 1
5-13766220-G-A c.9966C>T p.I3322= Synonymous 59/79 - 1
5-13766220-G-C c.9966C>G p.I3322M Missense 59/79 - 3
5-13766223-C-A c.9963G>T p.R3321= Synonymous 59/79 - 3
5-13766224-C-T c.9962G>A p.R3321Q Missense 59/79 - 3
5-13766223-C-G c.9963G>C p.R3321= Synonymous 59/79 - 2
5-13766223-C-T c.9963G>A p.R3321= Synonymous 59/79 - 2
5-13766225-G-A c.9961C>T p.R3321W Missense 59/79 - 4
5-13766225-G-T c.9961C>A p.R3321= Synonymous 59/79 - 1
5-13766226-C-A c.9960G>T p.M3320I Missense 59/79 - 2
5-13766226-C-G c.9960G>C p.M3320I Missense 59/79 - 2
5-13766226-C-T c.9960G>A p.M3320I Missense 59/79 - 3
5-13766228-T-C c.9958A>G p.M3320V Missense 59/79 - 1
5-13766229-G-A c.9957C>T p.I3319= Synonymous 59/79 - 8
5-13766229-G-T c.9957C>A p.I3319= Synonymous 59/79 - 3
5-13766232-G-A c.9954C>T p.L3318= Synonymous 59/79 - 2
5-13766240-G-A c.9946C>T p.P3316S Missense 59/79 - 2
5-13766242-G-A c.9944C>T p.P3315L Missense 59/79 - 2
5-13766238-A-AG c.9947dup p.H3317Sfs*24 Frameshift 59/79 - 1
5-13766238-AG-A c.9947del p.P3316Lfs*22 Frameshift 59/79 - 5
5-13766245-C-G c.9941G>C p.R3314P Missense 59/79 - 2
5-13766245-C-T c.9941G>A p.R3314H Missense 59/79 - 2
5-13766245-GC-G c.9941del p.R3314Pfs*24 Frameshift 59/79 - 1
5-13766246-G-A c.9940C>T p.R3314C Missense 59/79 - 1
5-13766248-C-T c.9938G>A p.G3313D Missense 59/79 - 2
5-13766255-T-C c.9931A>G p.T3311A Missense 59/79 - 2
5-13766257-C-T c.9929G>A p.R3310H Missense 59/79 - 1
5-13766258-G-A c.9928C>T p.R3310C Missense 59/79 - 11
5-13766267-C-T c.9919G>A p.A3307T Missense 59/79 - 2
5-13766268-G-A c.9918C>T p.I3306= Synonymous 59/79 - 5
5-13766268-G-T c.9918C>A p.I3306= Synonymous 59/79 - 1
5-13766269-A-T c.9917T>A p.I3306N Missense 59/79 - 3
5-13766272-T-A c.9914A>T p.D3305V Missense 59/79 - 1
5-13766272-T-C c.9914A>G p.D3305G Missense 59/79 - 4
5-13766273-C-T c.9913G>A p.D3305N Missense 59/79 - 2
5-13766274-C-A c.9912G>T p.S3304= Synonymous 59/79 - 1
5-13766274-C-G c.9912G>C p.S3304= Synonymous 59/79 - 1
5-13766274-C-T c.9912G>A p.S3304= Synonymous 59/79 - 1
5-13766275-G-A c.9911C>T p.S3304L Missense 59/79 - 4
5-13766279-G-A c.9907C>T p.P3303S Missense 59/79 - 1
5-13766281-C-T c.9905G>A p.R3302K Missense 59/79 - 3
5-13766284-A-G c.9902T>C p.I3301T Missense 59/79 - 2
5-13766285-T-A c.9901A>T p.I3301F Missense 59/79 - 3
5-13766285-T-C c.9901A>G p.I3301V Missense 59/79 - 1
5-13766286-G-A c.9900C>T p.T3300= Synonymous 59/79 - 1
5-13766286-G-C c.9900C>G p.T3300= Synonymous 59/79 - 1
5-13766286-G-T c.9900C>A p.T3300= Synonymous 59/79 - 1
5-13766287-G-A c.9899C>T p.T3300I Missense 59/79 - 3
5-13766287-G-C c.9899C>G p.T3300S Missense 59/79 - 1
5-13769068-C-G c.9897+1G>C - IntronicSNV - 58/78 1
5-13769070-T-C c.9896A>G p.Q3299R Missense 58/79 - 1
5-13769079-G-A c.9887C>T p.A3296V Missense 58/79 - 1
5-13769079-G-C c.9887C>G p.A3296G Missense 58/79 - 1
5-13769082-T-C c.9884A>G p.E3295G Missense 58/79 - 1
5-13769086-C-T c.9880G>A p.A3294T Missense 58/79 - 1
5-13769088-T-G c.9878A>C p.E3293A Missense 58/79 - 2
5-13769094-A-G c.9872T>C p.L3291S Missense 58/79 - 2
5-13769097-G-T c.9869C>A p.A3290D Missense 58/79 - 1
5-13769100-G-A c.9866C>T p.P3289L Missense 58/79 - 2
5-13769101-G-A c.9865C>T p.P3289S Missense 58/79 - 4
5-13769110-C-T c.9856G>A p.A3286T Missense 58/79 - 7
5-13769113-C-T c.9853G>A p.E3285K Missense 58/79 - 4
5-13769114-C-A c.9852G>T p.L3284= Synonymous 58/79 - 3
5-13769114-C-G c.9852G>C p.L3284= Synonymous 58/79 - 2
5-13769114-C-T c.9852G>A p.L3284= Synonymous 58/79 - 2
5-13769115-A-G c.9851T>C p.L3284P Missense 58/79 - 2
5-13769116-G-A c.9850C>T p.L3284= Synonymous 58/79 - 3
5-13769119-T-TA c.9846_9847insT p.K3283* Nonsense 58/79 - 1
5-13769116-GT-G c.9849del p.K3283Nfs*9 Frameshift 58/79 - 1
5-13769122-C-T c.9844G>A p.E3282K Missense 58/79 - 8
5-13769132-G-A c.9834C>T p.A3278= Synonymous 58/79 - 1
5-13769133-G-A c.9833C>T p.A3278V Missense 58/79 - 4
5-13769134-C-T c.9832G>A p.A3278T Missense 58/79 - 6
5-13769142-T-G c.9824A>C p.K3275T Missense 58/79 - 1
5-13769143-T-C c.9823A>G p.K3275E Missense 58/79 - 1
5-13769144-A-C c.9822T>G p.S3274= Synonymous 58/79 - 4
5-13769144-A-G c.9822T>C p.S3274= Synonymous 58/79 - 2
5-13769144-A-T c.9822T>A p.S3274= Synonymous 58/79 - 1
5-13769145-G-A c.9821C>T p.S3274F Missense 58/79 - 1
5-13769145-G-C c.9821C>G p.S3274C Missense 58/79 - 1
5-13769151-C-T c.9815G>A p.S3272N Missense 58/79 - 2
5-13769155-C-T c.9811G>A p.D3271N Missense 58/79 - 7
5-13769156-C-A c.9810G>T p.V3270= Synonymous 58/79 - 1
5-13769156-C-G c.9810G>C p.V3270= Synonymous 58/79 - 1
5-13769156-C-T c.9810G>A p.V3270= Synonymous 58/79 - 5
5-13769163-G-T c.9803C>A p.A3268D Missense 58/79 - 2
5-13769164-C-T c.9802G>A p.A3268T Missense 58/79 - 1
5-13769169-G-A c.9797C>T p.A3266V Missense 58/79 - 6
5-13769170-C-T c.9796G>A p.A3266T Missense 58/79 - 1
5-13769172-C-T c.9794G>A p.R3265K Missense 58/79 - 3
5-13769174-G-T c.9792C>A p.D3264E Missense 58/79 - 1
5-13769175-T-A c.9791A>T p.D3264V Missense 58/79 - 1
5-13769176-C-G c.9790G>C p.D3264H Missense 58/79 - 3
5-13769176-C-T c.9790G>A p.D3264N Missense 58/79 - 5
5-13769178-T-C c.9788A>G p.K3263R Missense 58/79 - 2
5-13769182-C-T c.9784G>A p.V3262M Missense 58/79 - 1
5-13769185-T-C c.9781A>G p.K3261E Missense 58/79 - 1
5-13769188-G-A c.9778C>T p.Q3260* Nonsense 58/79 - 1
5-13769190-A-G c.9776T>C p.V3259A Missense 58/79 - 1
5-13769193-T-C c.9773A>G p.E3258G Missense 58/79 - 1
5-13769196-G-A c.9770C>T p.A3257V Missense 58/79 - 4
5-13769198-C-T c.9768G>A p.K3256= Synonymous 58/79 - 1
5-13769199-T-G c.9767A>C p.K3256T Missense 58/79 - 5
5-13769201-G-A c.9765C>T p.V3255= Synonymous 58/79 - 1
5-13769201-G-C c.9765C>G p.V3255= Synonymous 58/79 - 1
5-13769201-G-T c.9765C>A p.V3255= Synonymous 58/79 - 1
5-13769204-C-A c.9762G>T p.K3254N Missense 58/79 - 4
5-13769204-C-G c.9762G>C p.K3254N Missense 58/79 - 3
5-13769205-T-C c.9761A>G p.K3254R Missense 58/79 - 1
5-13769209-C-T c.9757G>A p.E3253K Missense 58/79 - 3
5-13769211-G-A c.9755C>T p.A3252V Missense 58/79 - 1
5-13769212-C-T c.9754G>A p.A3252T Missense 58/79 - 1
5-13769213-A-C c.9753T>G p.A3251= Synonymous 58/79 - 2
5-13769213-A-G c.9753T>C p.A3251= Synonymous 58/79 - 2
5-13769213-A-T c.9753T>A p.A3251= Synonymous 58/79 - 2
5-13769215-C-A c.9751G>T p.A3251S Missense 58/79 - 1
5-13769215-C-G c.9751G>C p.A3251P Missense 58/79 - 3
5-13769215-C-T c.9751G>A p.A3251T Missense 58/79 - 1
5-13769221-C-T c.9745G>A p.A3249T Missense 58/79 - 1
5-13769225-C-T c.9741G>A p.M3247I Missense 58/79 - 7
5-13769230-T-G c.9736A>C p.T3246P Missense 58/79 - 1
5-13769231-C-T c.9735G>A p.V3245= Synonymous 58/79 - 2
5-13769232-A-G c.9734T>C p.V3245A Missense 58/79 - 1
5-13769233-C-T c.9733G>A p.V3245M Missense 58/79 - 4
5-13769236-C-A c.9730G>T p.E3244* Nonsense 58/79 - 1
5-13769236-C-T c.9730G>A p.E3244K Missense 58/79 - 7
5-13769237-T-A c.9729A>T p.K3243N Missense 58/79 - 1
5-13769237-T-C c.9729A>G p.K3243= Synonymous 58/79 - 1
5-13769237-T-G c.9729A>C p.K3243N Missense 58/79 - 1
5-13769239-T-TA c.9726_9727insT p.K3243* Nonsense 58/79 - 1
5-13769236-CT-C c.9729del p.E3244Kfs*2 Frameshift 58/79 - 1
5-13769245-C-G c.9721G>C p.V3241L Missense 58/79 - 4
5-13769245-C-T c.9721G>A p.V3241I Missense 58/79 - 1
5-13769257-T-A c.9721-12A>T - IntronicSNV - 57/78 6
5-13769257-T-C c.9721-12A>G - IntronicSNV - 57/78 6
5-13769356-G-T c.9721-111C>A - IntronicSNV - 57/78 1
5-13769357-T-TG c.9721-113_9721-112insC - IntronicInsertion - 57/78 1
5-13769577-A-G c.9720+33T>C - IntronicSNV - 57/78 1
5-13769610-C-T c.9720G>A p.M3240I Missense 57/79 - 6
5-13769615-C-G c.9715G>C p.D3239H Missense 57/79 - 1
5-13769615-C-T c.9715G>A p.D3239N Missense 57/79 - 1
5-13769623-T-C c.9707A>G p.D3236G Missense 57/79 - 2
5-13769624-C-G c.9706G>C p.D3236H Missense 57/79 - 2
5-13769624-C-T c.9706G>A p.D3236N Missense 57/79 - 20
5-13769625-G-A c.9705C>T p.N3235= Synonymous 57/79 - 4
5-13769626-T-G c.9704A>C p.N3235T Missense 57/79 - 2
5-13769630-C-T c.9700G>A p.A3234T Missense 57/79 - 1
5-13769636-G-A c.9694C>T p.Q3232* Nonsense 57/79 - 3
5-13769642-C-G c.9688G>C p.E3230Q Missense 57/79 - 2
5-13769642-C-T c.9688G>A p.E3230K Missense 57/79 - 6
5-13769645-T-C c.9685A>G p.K3229E Missense 57/79 - 1
5-13769647-T-A c.9683A>T p.E3228V Missense 57/79 - 3
5-13769648-C-T c.9682G>A p.E3228K Missense 57/79 - 1
5-13769649-T-A c.9681A>T p.K3227N Missense 57/79 - 1
5-13769649-T-G c.9681A>C p.K3227N Missense 57/79 - 1
5-13769651-T-A c.9679A>T p.K3227* Nonsense 57/79 - 1
5-13769651-T-C c.9679A>G p.K3227E Missense 57/79 - 1
5-13769652-C-A c.9678G>T p.A3226= Synonymous 57/79 - 2
5-13769652-C-G c.9678G>C p.A3226= Synonymous 57/79 - 2
5-13769652-C-T c.9678G>A p.A3226= Synonymous 57/79 - 12
5-13769653-G-A c.9677C>T p.A3226V Missense 57/79 - 4
5-13769655-T-A c.9675A>T p.E3225D Missense 57/79 - 2
5-13769655-T-G c.9675A>C p.E3225D Missense 57/79 - 3
5-13769657-C-G c.9673G>C p.E3225Q Missense 57/79 - 1
5-13769660-G-A c.9670C>T p.L3224= Synonymous 57/79 - 1
5-13769660-G-C c.9670C>G p.L3224V Missense 57/79 - 3
5-13769663-C-T c.9667G>A p.E3223K Missense 57/79 - 5
5-13769670-C-T c.9660G>A p.L3220= Synonymous 57/79 - 1
5-13769674-G-A c.9656C>T p.A3219V Missense 57/79 - 2
5-13769675-C-T c.9655G>A p.A3219T Missense 57/79 - 3
5-13769676-T-G c.9654A>C p.A3218= Synonymous 57/79 - 1
5-13769677-G-A c.9653C>T p.A3218V Missense 57/79 - 1
5-13769681-C-G c.9649G>C p.V3217L Missense 57/79 - 1
5-13769682-A-G c.9648T>C p.S3216= Synonymous 57/79 - 1
5-13769683-G-A c.9647C>T p.S3216F Missense 57/79 - 2
5-13769683-G-C c.9647C>G p.S3216C Missense 57/79 - 4
5-13769686-T-A c.9644A>T p.E3215V Missense 57/79 - 6
5-13769687-C-T c.9643G>A p.E3215K Missense 57/79 - 3
5-13769689-G-A c.9641C>T p.S3214L Missense 57/79 - 2
5-13769693-GC-G c.9637del p.A3213Lfs*8 Frameshift 57/79 - 1
5-13769697-T-A c.9633A>T p.K3211N Missense 57/79 - 4
5-13769697-T-G c.9633A>C p.K3211N Missense 57/79 - 4
5-13769699-T-A c.9631A>T p.K3211* Nonsense 57/79 - 2
5-13769703-C-T c.9627G>A p.K3209= Synonymous 57/79 - 2
5-13769704-T-C c.9626A>G p.K3209R Missense 57/79 - 2
5-13769705-T-A c.9625A>T p.K3209* Nonsense 57/79 - 1
5-13769708-C-T c.9622G>A p.E3208K Missense 57/79 - 1
5-13769709-C-A c.9621G>T p.L3207F Missense 57/79 - 5
5-13769709-CA-C c.9620del p.L3207Wfs*14 Frameshift 57/79 - 1
5-13769713-C-A c.9617G>T p.G3206V Missense 57/79 - 2
5-13769713-C-T c.9617G>A p.G3206E Missense 57/79 - 8
5-13769719-T-C c.9611A>G p.N3204S Missense 57/79 - 1
5-13769720-T-A c.9610A>T p.N3204Y Missense 57/79 - 1
5-13769720-T-C c.9610A>G p.N3204D Missense 57/79 - 1
5-13769720-T-G c.9610A>C p.N3204H Missense 57/79 - 4
5-13769721-C-A c.9609G>T p.M3203I Missense 57/79 - 2
5-13769721-C-G c.9609G>C p.M3203I Missense 57/79 - 2
5-13769721-C-T c.9609G>A p.M3203I Missense 57/79 - 11
5-13769717-TATTC-T c.9609_9612del p.M3203Ifs*17 Frameshift 57/79 56/78 1
5-13769959-A-G c.9606-235T>C - IntronicSNV - 56/78 1
5-13769959-A-T c.9606-235T>A - IntronicSNV - 56/78 1
5-13769974-C-A c.9606-250G>T - IntronicSNV - 56/78 4
5-13769974-C-T c.9606-250G>A - IntronicSNV - 56/78 4
5-13770114-C-T c.9606-390G>A - IntronicSNV - 56/78 1
5-13770508-A-G c.9605+350T>C - IntronicSNV - 56/78 1
5-13770531-C-A c.9605+327G>T - IntronicSNV - 56/78 1
5-13770757-C-CA c.9605+100dup - IntronicInsertion - 56/78 3
5-13770858-C-T c.9605G>A p.R3202K Missense 56/79 - 4
5-13770864-G-T c.9599C>A p.A3200D Missense 56/79 - 1
5-13770865-C-T c.9598G>A p.A3200T Missense 56/79 - 1
5-13770868-G-C c.9595C>G p.L3199V Missense 56/79 - 1
5-13770869-G-A c.9594C>T p.T3198= Synonymous 56/79 - 4
5-13770872-C-A c.9591G>T p.R3197= Synonymous 56/79 - 2
5-13770872-C-T c.9591G>A p.R3197= Synonymous 56/79 - 3
5-13770873-C-T c.9590G>A p.R3197Q Missense 56/79 - 13
5-13770874-G-A c.9589C>T p.R3197W Missense 56/79 - 7
5-13770875-C-A c.9588G>T p.V3196= Synonymous 56/79 - 1
5-13770875-C-G c.9588G>C p.V3196= Synonymous 56/79 - 1
5-13770875-C-T c.9588G>A p.V3196= Synonymous 56/79 - 2
5-13770878-C-T c.9585G>A p.E3195= Synonymous 56/79 - 1
5-13770892-C-T c.9571G>A p.E3191K Missense 56/79 - 1
5-13770892-TC-T c.9571del p.E3191Kfs*13 Frameshift 56/79 - 1
5-13770894-C-G c.9569G>C p.G3190A Missense 56/79 - 1
5-13770895-C-T c.9568G>A p.G3190R Missense 56/79 - 5
5-13770902-G-A c.9561C>T p.F3187= Synonymous 56/79 - 5
5-13770907-T-C c.9556A>G p.K3186E Missense 56/79 - 1
5-13770908-A-C c.9555T>G p.Y3185* Nonsense 56/79 - 1
5-13770908-A-G c.9555T>C p.Y3185= Synonymous 56/79 - 2
5-13770908-A-T c.9555T>A p.Y3185* Nonsense 56/79 - 3
5-13770911-G-A c.9552C>T p.G3184= Synonymous 56/79 - 3
5-13770913-C-A c.9550G>T p.G3184C Missense 56/79 - 1
5-13770913-C-T c.9550G>A p.G3184S Missense 56/79 - 1
5-13770914-C-T c.9549G>A p.Q3183= Synonymous 56/79 - 1
5-13770916-G-A c.9547C>T p.Q3183* Nonsense 56/79 - 3
5-13770919-T-G c.9544A>C p.I3182L Missense 56/79 - 1
5-13770923-G-A c.9540C>T p.S3180= Synonymous 56/79 - 2
5-13770923-G-C c.9540C>G p.S3180= Synonymous 56/79 - 2
5-13770923-G-T c.9540C>A p.S3180= Synonymous 56/79 - 2
5-13770924-G-A c.9539C>T p.S3180F Missense 56/79 - 1
5-13770926-G-A c.9537C>T p.L3179= Synonymous 56/79 - 2
5-13770928-G-A c.9535C>T p.L3179F Missense 56/79 - 4
5-13770929-G-A c.9534C>T p.Y3178= Synonymous 56/79 - 1
5-13770929-G-T c.9534C>A p.Y3178* Nonsense 56/79 - 1
5-13770930-T-TA c.9532dup p.Y3178Lfs*9 Frameshift 56/79 - 1
5-13770933-G-A c.9530C>T p.S3177L Missense 56/79 - 5
5-13770938-G-A c.9525C>T p.P3175= Synonymous 56/79 - 1
5-13770938-G-C c.9525C>G p.P3175= Synonymous 56/79 - 1
5-13770938-G-T c.9525C>A p.P3175= Synonymous 56/79 - 1
5-13770940-G-C c.9523C>G p.P3175A Missense 56/79 - 1
5-13770941-C-A c.9522G>T p.T3174= Synonymous 56/79 - 2
5-13770941-C-G c.9522G>C p.T3174= Synonymous 56/79 - 2
5-13770941-C-T c.9522G>A p.T3174= Synonymous 56/79 - 3
5-13770942-G-A c.9521C>T p.T3174M Missense 56/79 - 4
5-13770944-C-A c.9519G>T p.V3173= Synonymous 56/79 - 1
5-13770944-C-G c.9519G>C p.V3173= Synonymous 56/79 - 1
5-13770944-C-T c.9519G>A p.V3173= Synonymous 56/79 - 1
5-13770946-C-A c.9517G>T p.V3173L Missense 56/79 - 1
5-13770946-C-T c.9517G>A p.V3173M Missense 56/79 - 1
5-13770947-G-A c.9516C>T p.H3172= Synonymous 56/79 - 1
5-13770949-G-T c.9514C>A p.H3172N Missense 56/79 - 4
5-13770948-T-TG c.9514dup p.H3172Pfs*15 Frameshift 56/79 - 1
5-13770951-G-C c.9512C>G p.T3171S Missense 56/79 - 1
5-13770952-T-A c.9511A>T p.T3171S Missense 56/79 - 1
5-13770952-T-C c.9511A>G p.T3171A Missense 56/79 - 1
5-13770957-C-T c.9506G>A p.R3169H Missense 56/79 - 1
5-13770958-G-A c.9505C>T p.R3169C Missense 56/79 - 2
5-13770958-G-T c.9505C>A p.R3169S Missense 56/79 - 1
5-13770960-C-G c.9503G>C p.R3168P Missense 56/79 - 3
5-13770960-C-T c.9503G>A p.R3168Q Missense 56/79 - 6
5-13770961-G-A c.9502C>T p.R3168* Nonsense 56/79 - 10
5-13770966-C-A c.9497G>T p.R3166I Missense 56/79 - 1
5-13770966-C-T c.9497G>A p.R3166K Missense 56/79 - 3
5-13770967-T-C c.9496A>G p.R3166G Missense 56/79 - 2
5-13770968-C-A c.9495G>T p.Q3165H Missense 56/79 - 1
5-13770968-C-G c.9495G>C p.Q3165H Missense 56/79 - 1
5-13770970-G-A c.9493C>T p.Q3165* Nonsense 56/79 - 6
5-13770972-A-T c.9491T>A p.F3164Y Missense 56/79 - 1
5-13770981-A-T c.9482T>A p.V3161D Missense 56/79 - 1
5-13770983-A-T c.9480T>A p.C3160* Nonsense 56/79 - 1
5-13770985-A-G c.9478T>C p.C3160R Missense 56/79 - 2
5-13770989-C-A c.9474G>T p.E3158D Missense 56/79 - 5
5-13770989-C-G c.9474G>C p.E3158D Missense 56/79 - 3
5-13770999-C-A c.9464G>T p.G3155V Missense 56/79 - 2
5-13770999-C-T c.9464G>A p.G3155E Missense 56/79 - 3
5-13771000-C-A c.9463G>T p.G3155W Missense 56/79 - 1
5-13771002-T-G c.9461A>C p.D3154A Missense 56/79 - 2
5-13771002-T-TAGAAAAAC c.9460_9461insGTTTTTCT p.D3154Gfs*23 Frameshift 56/79 - 1
5-13771003-C-T c.9460G>A p.D3154N Missense 56/79 - 9
5-13771004-C-T c.9459G>A p.Q3153= Synonymous 56/79 - 2
5-13771007-G-A c.9456C>T p.F3152= Synonymous 56/79 - 2
5-13771011-G-A c.9452C>T p.S3151F Missense 56/79 - 5
5-13771013-GC-G c.9449del p.G3150Afs*24 Frameshift 56/79 - 3
5-13771019-G-A c.9444C>T p.C3148= Synonymous 56/79 - 1
5-13771024-G-A c.9439C>T p.Q3147* Nonsense 56/79 - 2
5-13771024-G-C c.9439C>G p.Q3147E Missense 56/79 - 1
5-13771024-G-T c.9439C>A p.Q3147K Missense 56/79 - 1
5-13771026-A-C c.9437T>G p.V3146G Missense 56/79 - 1
5-13771027-C-T c.9436G>A p.V3146I Missense 56/79 - 1
5-13771034-C-T c.9429G>A p.K3143= Synonymous 56/79 - 2
5-13771036-T-A c.9427A>T p.K3143* Nonsense 56/79 - 1
5-13771038-T-G c.9425A>C p.K3142T Missense 56/79 - 1
5-13771042-T-C c.9421A>G p.I3141V Missense 56/79 - 1
5-13771045-C-T c.9418G>A p.E3140K Missense 56/79 - 9
5-13771046-C-T c.9417G>A p.L3139= Synonymous 56/79 - 1
5-13771052-G-A c.9411C>T p.C3137= Synonymous 56/79 - 1
5-13771052-G-T c.9411C>A p.C3137* Nonsense 56/79 - 1
5-13771053-C-A c.9410G>T p.C3137F Missense 56/79 - 3
5-13771053-C-T c.9410G>A p.C3137Y Missense 56/79 - 1
5-13771055-G-A c.9408C>T p.D3136= Synonymous 56/79 - 1
5-13771056-T-G c.9407A>C p.D3136A Missense 56/79 - 2
5-13771062-T-C c.9401A>G p.D3134G Missense 56/79 - 1
5-13771063-C-T c.9400G>A p.D3134N Missense 56/79 - 4
5-13771064-A-C c.9399T>G p.Y3133* Nonsense 56/79 - 2
5-13771064-A-T c.9399T>A p.Y3133* Nonsense 56/79 - 2
5-13771065-T-C c.9398A>G p.Y3133C Missense 56/79 - 1
5-13771068-G-A c.9395C>T p.S3132F Missense 56/79 - 9
5-13771073-G-A c.9390C>T p.L3130= Synonymous 56/79 - 4
5-13771076-G-C c.9387C>G p.F3129L Missense 56/79 - 1
5-13771076-G-T c.9387C>A p.F3129L Missense 56/79 - 1
5-13771078-A-C c.9385T>G p.F3129V Missense 56/79 - 1
5-13771078-A-G c.9385T>C p.F3129L Missense 56/79 - 1
5-13771079-G-T c.9384C>A p.H3128Q Missense 56/79 - 1
5-13771080-T-A c.9383A>T p.H3128L Missense 56/79 - 1
5-13771080-TG-AA c.9382_9383delinsTT p.H3128F Missense 56/79 - 1
5-13771081-G-A c.9382C>T p.H3128Y Missense 56/79 - 2
5-13771084-C-A c.9379G>T p.E3127* Nonsense 56/79 - 1
5-13771086-G-A c.9377C>T p.S3126F Missense 56/79 - 1
5-13771249-A-G c.9374-160T>C - IntronicSNV - 55/78 1
5-13774029-GGA-G c.9373+2518_9373+2519del - IntronicDeletion - 55/78 1
5-13776206-A-C c.9373+342T>G - IntronicSNV - 55/78 1
5-13776487-C-T c.9373+61G>A - IntronicSNV - 55/78 3
5-13776548-C-A c.9373G>T p.V3125L Missense 55/79 - 1
5-13776548-C-G c.9373G>C p.V3125L Missense 55/79 - 1
5-13776554-C-G c.9367G>C p.V3123L Missense 55/79 - 4
5-13776555-T-A c.9366A>T p.L3122F Missense 55/79 - 1
5-13776555-T-G c.9366A>C p.L3122F Missense 55/79 - 2
5-13776556-A-AATT c.9364_9365insAAT p.A3121_L3122ins* InFrameInsertion 55/79 - 1
5-13776555-TA-T c.9365del p.L3122* Frameshift 55/79 - 3
5-13776562-T-C c.9359A>G p.D3120G Missense 55/79 - 1
5-13776565-T-C c.9356A>G p.K3119R Missense 55/79 - 1
5-13776566-T-C c.9355A>G p.K3119E Missense 55/79 - 5
5-13776569-G-T c.9352C>A p.P3118T Missense 55/79 - 1
5-13776571-C-A c.9350G>T p.W3117L Missense 55/79 - 1
5-13776574-C-T c.9347G>A p.R3116Q Missense 55/79 - 7
5-13776575-G-A c.9346C>T p.R3116* Nonsense 55/79 - 6
5-13776579-G-A c.9342C>T p.F3114= Synonymous 55/79 - 4
5-13776582-C-G c.9339G>C p.W3113C Missense 55/79 - 1
5-13776589-A-G c.9332T>C p.I3111T Missense 55/79 - 3
5-13776590-T-C c.9331A>G p.I3111V Missense 55/79 - 1
5-13776598-C-G c.9323G>C p.G3108A Missense 55/79 - 3
5-13776598-C-T c.9323G>A p.G3108E Missense 55/79 - 1
5-13776599-C-A c.9322G>T p.G3108* Nonsense 55/79 - 1
5-13776599-C-G c.9322G>C p.G3108R Missense 55/79 - 2
5-13776599-C-T c.9322G>A p.G3108R Missense 55/79 - 7
5-13776601-G-A c.9320C>T p.S3107L Missense 55/79 - 7
5-13776604-A-G c.9317T>C p.I3106T Missense 55/79 - 1
5-13776609-G-A c.9312C>T p.A3104= Synonymous 55/79 - 1
5-13776609-G-C c.9312C>G p.A3104= Synonymous 55/79 - 1
5-13776609-G-T c.9312C>A p.A3104= Synonymous 55/79 - 1
5-13776612-A-T c.9309T>A p.P3103= Synonymous 55/79 - 1
5-13776615-G-A c.9306C>T p.F3102= Synonymous 55/79 - 2
5-13776619-T-C c.9302A>G p.K3101R Missense 55/79 - 1
5-13776626-C-T c.9295G>A p.A3099T Missense 55/79 - 2
5-13776625-GCT-G c.9294_9295del p.R3098Sfs*14 Frameshift 55/79 - 2
5-13776628-C-A c.9293G>T p.R3098I Missense 55/79 - 1
5-13776628-C-G c.9293G>C p.R3098T Missense 55/79 - 2
5-13776628-C-T c.9293G>A p.R3098K Missense 55/79 - 7
5-13776634-C-T c.9287G>A p.R3096Q Missense 55/79 - 17
5-13776635-G-A c.9286C>T p.R3096* Nonsense 55/79 - 25
5-13776639-T-A c.9282A>T p.K3094N Missense 55/79 - 1
5-13776639-T-G c.9282A>C p.K3094N Missense 55/79 - 1
5-13776640-T-G c.9281A>C p.K3094T Missense 55/79 - 5
5-13776642-C-A c.9279G>T p.E3093D Missense 55/79 - 2
5-13776642-C-G c.9279G>C p.E3093D Missense 55/79 - 2
5-13776642-C-T c.9279G>A p.E3093= Synonymous 55/79 - 2
5-13776644-C-A c.9277G>T p.E3093* Nonsense 55/79 - 1
5-13776645-C-T c.9276G>A p.G3092= Synonymous 55/79 - 5
5-13776646-C-A c.9275G>T p.G3092V Missense 55/79 - 2
5-13776646-C-G c.9275G>C p.G3092A Missense 55/79 - 6
5-13776647-C-T c.9274G>A p.G3092R Missense 55/79 - 2
5-13776648-C-A c.9273G>T p.V3091= Synonymous 55/79 - 1
5-13776648-C-G c.9273G>C p.V3091= Synonymous 55/79 - 1
5-13776648-C-T c.9273G>A p.V3091= Synonymous 55/79 - 1
5-13776654-C-A c.9267G>T p.S3089= Synonymous 55/79 - 1
5-13776654-C-G c.9267G>C p.S3089= Synonymous 55/79 - 1
5-13776654-C-T c.9267G>A p.S3089= Synonymous 55/79 - 2
5-13776655-G-A c.9266C>T p.S3089L Missense 55/79 - 7
5-13776657-G-A c.9264C>T p.F3088= Synonymous 55/79 - 1
5-13776665-G-A c.9256C>T p.L3086F Missense 55/79 - 5
5-13776677-G-T c.9244C>A p.L3082I Missense 55/79 - 3
5-13776681-C-T c.9240G>A p.Q3080= Synonymous 55/79 - 6
5-13776685-C-T c.9236G>A p.R3079Q Missense 55/79 - 4
5-13776686-G-A c.9235C>T p.R3079* Nonsense 55/79 - 9
5-13776690-CC-AT c.9230_9231delinsAT p.R3077H Missense 55/79 - 1
5-13776691-C-A c.9230G>T p.R3077L Missense 55/79 - 5
5-13776691-C-T c.9230G>A p.R3077Q Missense 55/79 - 3
5-13776690-C-A c.9231G>T p.R3077= Synonymous 55/79 - 1
5-13776690-C-G c.9231G>C p.R3077= Synonymous 55/79 - 1
5-13776690-C-T c.9231G>A p.R3077= Synonymous 55/79 - 1
5-13776692-G-A c.9229C>T p.R3077W Missense 55/79 - 4
5-13776692-G-T c.9229C>A p.R3077= Synonymous 55/79 - 1
5-13776694-C-A c.9227G>T p.S3076I Missense 55/79 - 5
5-13776696-C-A c.9225G>T p.M3075I Missense 55/79 - 2
5-13776696-C-G c.9225G>C p.M3075I Missense 55/79 - 1
5-13776696-C-T c.9225G>A p.M3075I Missense 55/79 - 5
5-13776697-A-G c.9224T>C p.M3075T Missense 55/79 - 1
5-13776703-T-C c.9218A>G p.Y3073C Missense 55/79 - 3
5-13776707-C-T c.9214G>A p.D3072N Missense 55/79 - 1
5-13776708-G-A c.9213C>T p.H3071= Synonymous 55/79 - 1
5-13776713-G-A c.9208C>T p.L3070= Synonymous 55/79 - 1
5-13776715-T-C c.9206A>G p.N3069S Missense 55/79 - 4
5-13776718-T-C c.9203A>G p.E3068G Missense 55/79 - 3
5-13776724-G-A c.9197C>T p.T3066I Missense 55/79 - 2
5-13776725-T-C c.9196A>G p.T3066A Missense 55/79 - 1
5-13776727-G-A c.9194C>T p.P3065L Missense 55/79 - 2
5-13776728-G-A c.9193C>T p.P3065S Missense 55/79 - 6
5-13776728-G-T c.9193C>A p.P3065T Missense 55/79 - 1
5-13776732-G-T c.9189C>A p.C3063* Nonsense 55/79 - 2
5-13776737-T-C c.9184A>G p.R3062G Missense 55/79 - 1
5-13776741-G-A c.9180C>T p.F3060= Synonymous 55/79 - 5
5-13776745-T-C c.9176A>G p.E3059G Missense 55/79 - 5
5-13776746-C-A c.9175G>T p.E3059* Nonsense 55/79 - 2
5-13776749-T-TA c.9171_9172insT p.K3058* Nonsense 55/79 - 2
5-13776746-C-CT c.9174dup p.E3059Rfs*10 Frameshift 55/79 - 1
5-13776753-C-A c.9168G>T p.M3056I Missense 55/79 - 2
5-13776753-C-G c.9168G>C p.M3056I Missense 55/79 - 2
5-13776753-C-T c.9168G>A p.M3056I Missense 55/79 - 5
5-13776754-A-T c.9167T>A p.M3056K Missense 55/79 - 1
5-13776756-G-A c.9165C>T p.V3055= Synonymous 55/79 - 1
5-13776757-A-C c.9164T>G p.V3055G Missense 55/79 - 1
5-13776760-G-C c.9161C>G p.S3054* Nonsense 55/79 - 4
5-13776760-G-T c.9161C>A p.S3054* Nonsense 55/79 - 2
5-13776761-A-T c.9160T>A p.S3054T Missense 55/79 - 1
5-13776763-G-A c.9158C>T p.A3053V Missense 55/79 - 2
5-13776764-C-T c.9157G>A p.A3053T Missense 55/79 - 1
5-13776765-C-A c.9156G>T p.L3052= Synonymous 55/79 - 1
5-13776765-C-G c.9156G>C p.L3052= Synonymous 55/79 - 1
5-13776765-C-T c.9156G>A p.L3052= Synonymous 55/79 - 1
5-13776767-G-A c.9154C>T p.L3052= Synonymous 55/79 - 7
5-13776767-G-C c.9154C>G p.L3052V Missense 55/79 - 1
5-13776770-C-T c.9151G>A p.D3051N Missense 55/79 - 2
5-13776771-G-A c.9150C>T p.S3050= Synonymous 55/79 - 1
5-13776774-TATTAATTTCATCAATTTCATCTCGAGCAAATAG-T c.9115_9147del p.L3039_N3049del InFrameDeletion 55/79 - 1
5-13776775-T-A c.9146A>T p.N3049I Missense 55/79 - 4
5-13776782-C-T c.9139G>A p.E3047K Missense 55/79 - 6
5-13776783-A-C c.9138T>G p.D3046E Missense 55/79 - 1
5-13776783-A-G c.9138T>C p.D3046= Synonymous 55/79 - 1
5-13776783-A-T c.9138T>A p.D3046E Missense 55/79 - 1
5-13776791-C-T c.9130G>A p.E3044K Missense 55/79 - 7
5-13776793-T-A c.9128A>T p.D3043V Missense 55/79 - 1
5-13776794-C-A c.9127G>T p.D3043Y Missense 55/79 - 1
5-13776794-C-G c.9127G>C p.D3043H Missense 55/79 - 1
5-13776796-C-A c.9125G>T p.R3042L Missense 55/79 - 1
5-13776796-C-T c.9125G>A p.R3042Q Missense 55/79 - 6
5-13776797-G-A c.9124C>T p.R3042* Nonsense 55/79 - 7
5-13776797-G-T c.9124C>A p.R3042= Synonymous 55/79 - 2
5-13776805-A-G c.9116T>C p.L3039P Missense 55/79 - 1
5-13777309-A-G c.9105+2T>C - IntronicSNV - 54/78 1
5-13777310-C-T c.9105+1G>A - IntronicSNV - 54/78 1
5-13777315-C-T c.9101G>A p.G3034D Missense 54/79 - 2
5-13777314-AC-A c.9101del p.G3034Vfs*23 Frameshift 54/79 - 1
5-13777319-A-G c.9097T>C p.S3033P Missense 54/79 - 1
5-13777321-G-A c.9095C>T p.S3032L Missense 54/79 - 7
5-13777321-G-C c.9095C>G p.S3032* Nonsense 54/79 - 1
5-13777322-A-T c.9094T>A p.S3032T Missense 54/79 - 1
5-13777328-C-A c.9088G>T p.V3030F Missense 54/79 - 1
5-13777328-C-T c.9088G>A p.V3030I Missense 54/79 - 1
5-13777330-T-C c.9086A>G p.N3029S Missense 54/79 - 1
5-13777333-T-C c.9083A>G p.N3028S Missense 54/79 - 3
5-13777334-T-C c.9082A>G p.N3028D Missense 54/79 - 1
5-13777338-A-C c.9078T>G p.Y3026* Nonsense 54/79 - 1
5-13777339-T-G c.9077A>C p.Y3026S Missense 54/79 - 1
5-13777343-C-T c.9073G>A p.E3025K Missense 54/79 - 1
5-13777344-C-T c.9072G>A p.L3024= Synonymous 54/79 - 1
5-13777344-C-CA c.9071dup p.L3024Ffs*12 Frameshift 54/79 - 1
5-13777349-A-G c.9067T>C p.F3023L Missense 54/79 - 1
5-13777355-C-A c.9061G>T p.E3021* Nonsense 54/79 - 1
5-13777356-A-G c.9060T>C p.D3020= Synonymous 54/79 - 1
5-13777358-C-G c.9058G>C p.D3020H Missense 54/79 - 1
5-13777364-T-A c.9052A>T p.I3018F Missense 54/79 - 2
5-13777367-C-T c.9049G>A p.E3017K Missense 54/79 - 3
5-13777370-T-C c.9046A>G p.N3016D Missense 54/79 - 1
5-13777371-G-C c.9045C>G p.D3015E Missense 54/79 - 1
5-13777372-T-C c.9044A>G p.D3015G Missense 54/79 - 1
5-13777369-TTGTC-T c.9043_9046del p.D3015Mfs*12 Frameshift 54/79 - 1
5-13777373-C-A c.9043G>T p.D3015Y Missense 54/79 - 1
5-13777373-C-CA c.9042_9043insT p.D3015* Nonsense 54/79 - 1
5-13777373-C-G c.9043G>C p.D3015H Missense 54/79 - 1
5-13777373-C-T c.9043G>A p.D3015N Missense 54/79 - 3
5-13777382-T-A c.9034A>T p.I3012F Missense 54/79 - 2
5-13777387-G-C c.9029C>G p.T3010S Missense 54/79 - 1
5-13777388-T-C c.9028A>G p.T3010A Missense 54/79 - 1
5-13777394-C-A c.9022G>T p.G3008* Nonsense 54/79 - 1
5-13777394-C-G c.9022G>C p.G3008R Missense 54/79 - 1
5-13777394-C-T c.9022G>A p.G3008R Missense 54/79 - 2
5-13777403-G-A c.9013C>T p.Q3005* Nonsense 54/79 - 2
5-13777406-G-A c.9010C>T p.Q3004* Nonsense 54/79 - 6
5-13777411-G-A c.9005C>T p.A3002V Missense 54/79 - 1
5-13777417-CG-TT c.8998_8999delinsAA p.R3000K Missense 54/79 - 1
5-13777417-C-T c.8999G>A p.R3000Q Missense 54/79 - 13
5-13777417-TC-T c.8999del p.R3000Qfs*28 Frameshift 54/79 - 1
5-13777418-G-A c.8998C>T p.R3000* Nonsense 54/79 - 11
5-13777420-T-A c.8996A>T p.Y2999F Missense 54/79 - 1
5-13777427-C-T c.8989G>A p.V2997I Missense 54/79 - 1
5-13777432-A-T c.8984T>A p.L2995Q Missense 54/79 - 1
5-13777434-A-C c.8982T>G p.D2994E Missense 54/79 - 1
5-13777440-C-A c.8976G>T p.M2992I Missense 54/79 - 3
5-13777440-C-G c.8976G>C p.M2992I Missense 54/79 - 3
5-13777440-C-T c.8976G>A p.M2992I Missense 54/79 - 9
5-13777440-C-CAA c.8975_8976insTT p.M2992Ifs*5 Frameshift 54/79 - 1
5-13777442-T-TACAGATAGATAGATAGACAGACAGA c.8973_8974insTCTGTCTGTCTATCTATCTATCTGT p.M2992Sfs*34 Frameshift 54/79 - 1
5-13777445-G-A c.8971C>T p.L2991= Synonymous 54/79 - 4
5-13777450-G-A c.8966C>T p.S2989L Missense 54/79 - 2
5-13777455-G-A c.8961C>T p.N2987= Synonymous 54/79 - 1
5-13777456-T-A c.8960A>T p.N2987I Missense 54/79 - 3
5-13777456-T-G c.8960A>C p.N2987T Missense 54/79 - 1
5-13777460-A-G c.8956T>C p.Y2986H Missense 54/79 - 1
5-13777461-G-A c.8955C>T p.S2985= Synonymous 54/79 - 4
5-13777461-G-C c.8955C>G p.S2985= Synonymous 54/79 - 4
5-13777461-G-T c.8955C>A p.S2985= Synonymous 54/79 - 4
5-13777462-G-A c.8954C>T p.S2985F Missense 54/79 - 7
5-13777462-G-T c.8954C>A p.S2985Y Missense 54/79 - 2
5-13777463-A-G c.8953T>C p.S2985P Missense 54/79 - 1
5-13778709-G-A c.8952-1245C>T - IntronicSNV - 53/78 1
5-13778709-G-C c.8952-1245C>G - IntronicSNV - 53/78 1
5-13779743-T-C c.8951+1195A>G - IntronicSNV - 53/78 3
5-13779935-T-C c.8951+1003A>G - IntronicSNV - 53/78 1
5-13780601-T-C c.8951+337A>G - IntronicSNV - 53/78 1
5-13780939-T-A c.8950A>T p.R2984* Nonsense 53/79 - 1
5-13780940-C-T c.8949G>A p.T2983= Synonymous 53/79 - 3
5-13780941-G-A c.8948C>T p.T2983M Missense 53/79 - 3
5-13780945-G-C c.8944C>G p.L2982V Missense 53/79 - 1
5-13780949-G-A c.8940C>T p.I2980= Synonymous 53/79 - 3
5-13780952-C-A c.8937G>T p.Q2979H Missense 53/79 - 1
5-13780953-T-A c.8936A>T p.Q2979L Missense 53/79 - 2
5-13780953-T-C c.8936A>G p.Q2979R Missense 53/79 - 4
5-13780958-G-A c.8931C>T p.S2977= Synonymous 53/79 - 1
5-13780959-G-A c.8930C>T p.S2977F Missense 53/79 - 8
5-13780963-C-A c.8926G>T p.V2976F Missense 53/79 - 3
5-13780963-C-T c.8926G>A p.V2976I Missense 53/79 - 1
5-13780964-G-A c.8925C>T p.Y2975= Synonymous 53/79 - 1
5-13780968-C-T c.8921G>A p.G2974D Missense 53/79 - 1
5-13780969-C-T c.8920G>A p.G2974S Missense 53/79 - 1
5-13780976-G-A c.8913C>T p.F2971= Synonymous 53/79 - 4
5-13780980-G-A c.8909C>T p.S2970L Missense 53/79 - 3
5-13780984-C-T c.8905G>A p.A2969T Missense 53/79 - 1
5-13780988-C-T c.8901G>A p.R2967= Synonymous 53/79 - 4
5-13780989-C-A c.8900G>T p.R2967M Missense 53/79 - 4
5-13780990-T-A c.8899A>T p.R2967W Missense 53/79 - 1
5-13780991-C-A c.8898G>T p.T2966= Synonymous 53/79 - 2
5-13780991-C-G c.8898G>C p.T2966= Synonymous 53/79 - 2
5-13780991-C-T c.8898G>A p.T2966= Synonymous 53/79 - 3
5-13780992-G-A c.8897C>T p.T2966M Missense 53/79 - 1
5-13780992-G-T c.8897C>A p.T2966K Missense 53/79 - 1
5-13780996-G-A c.8893C>T p.L2965= Synonymous 53/79 - 3
5-13780998-C-T c.8891G>A p.S2964N Missense 53/79 - 1
5-13781002-G-T c.8887C>A p.Q2963K Missense 53/79 - 1
5-13781002-G-GC c.8886dup p.Q2963Afs*55 Frameshift 53/79 - 1
5-13781007-C-T c.8882G>A p.G2961E Missense 53/79 - 3
5-13781008-C-G c.8881G>C p.G2961R Missense 53/79 - 1
5-13781008-C-T c.8881G>A p.G2961R Missense 53/79 - 6
5-13781010-G-A c.8879C>T p.S2960L Missense 53/79 - 1
5-13781013-C-G c.8876G>C p.G2959A Missense 53/79 - 1
5-13781014-C-T c.8875G>A p.G2959R Missense 53/79 - 1
5-13781022-C-A c.8867G>T p.G2956V Missense 53/79 - 2
5-13781019-AC-A c.8869del p.V2957Wfs*9 Frameshift 53/79 - 1
5-13781023-C-G c.8866G>C p.G2956R Missense 53/79 - 1
5-13781023-C-T c.8866G>A p.G2956R Missense 53/79 - 1
5-13781024-G-A c.8865C>T p.V2955= Synonymous 53/79 - 1
5-13781025-GA-G c.8864del p.V2955Afs*11 Frameshift 53/79 - 1
5-13781026-C-T c.8863G>A p.V2955I Missense 53/79 - 4
5-13781027-C-A c.8862G>T p.L2954= Synonymous 53/79 - 2
5-13781027-C-G c.8862G>C p.L2954= Synonymous 53/79 - 2
5-13781027-C-T c.8862G>A p.L2954= Synonymous 53/79 - 2
5-13781028-A-G c.8861T>C p.L2954P Missense 53/79 - 1
5-13781029-G-A c.8860C>T p.L2954= Synonymous 53/79 - 6
5-13781030-G-A c.8859C>T p.L2953= Synonymous 53/79 - 5
5-13781035-C-T c.8854G>A p.A2952T Missense 53/79 - 2
5-13781038-T-G c.8851A>C p.N2951H Missense 53/79 - 1
5-13781036-AT-A c.8852del p.N2951Mfs*15 Frameshift 53/79 - 1
5-13781039-T-C c.8850A>G p.G2950= Synonymous 53/79 - 1
5-13781039-TC-GT c.8849_8850delinsAC p.G2950D Missense 53/79 - 3
5-13781040-C-T c.8849G>A p.G2950E Missense 53/79 - 7
5-13781041-C-A c.8848G>T p.G2950* Nonsense 53/79 - 1
5-13781041-C-T c.8848G>A p.G2950R Missense 53/79 - 1
5-13781044-G-A c.8845C>T p.Q2949* Nonsense 53/79 - 2
5-13781044-G-C c.8845C>G p.Q2949E Missense 53/79 - 4
5-13781047-G-A c.8842C>T p.P2948S Missense 53/79 - 2
5-13781047-G-T c.8842C>A p.P2948T Missense 53/79 - 1
5-13781049-G-A c.8840C>T p.T2947I Missense 53/79 - 1
5-13781052-C-A c.8837G>T p.R2946L Missense 53/79 - 2
5-13781052-C-T c.8837G>A p.R2946H Missense 53/79 - 1
5-13781053-G-A c.8836C>T p.R2946C Missense 53/79 - 7
5-13781061-C-T c.8828G>A p.R2943H Missense 53/79 - 6
5-13781062-G-A c.8827C>T p.R2943C Missense 53/79 - 10
5-13781062-G-C c.8827C>G p.R2943G Missense 53/79 - 1
5-13781064-G-C c.8825C>G p.S2942C Missense 53/79 - 3
5-13781480-G-A c.8821-412C>T - IntronicSNV - 52/78 1
5-13786267-T-A c.8820+21A>T - IntronicSNV - 52/78 1
5-13786288-C-A c.8820G>T p.K2940N Missense 52/79 - 1
5-13786288-C-G c.8820G>C p.K2940N Missense 52/79 - 1
5-13786301-A-G c.8807T>C p.V2936A Missense 52/79 - 1
5-13786302-C-T c.8806G>A p.V2936I Missense 52/79 - 3
5-13786303-C-A c.8805G>T p.M2935I Missense 52/79 - 1
5-13786303-C-G c.8805G>C p.M2935I Missense 52/79 - 2
5-13786303-C-T c.8805G>A p.M2935I Missense 52/79 - 1
5-13786307-G-T c.8801C>A p.A2934D Missense 52/79 - 1
5-13786309-A-T c.8799T>A p.D2933E Missense 52/79 - 1
5-13786313-G-A c.8795C>T p.A2932V Missense 52/79 - 1
5-13786315-A-C c.8793T>G p.F2931L Missense 52/79 - 1
5-13786315-A-T c.8793T>A p.F2931L Missense 52/79 - 1
5-13786317-A-G c.8791T>C p.F2931L Missense 52/79 - 2
5-13786318-G-A c.8790C>T p.F2930= Synonymous 52/79 - 5
5-13786321-C-T c.8787G>A p.V2929= Synonymous 52/79 - 1
5-13786327-G-T c.8781C>A p.D2927E Missense 52/79 - 1
5-13786329-C-T c.8779G>A p.D2927N Missense 52/79 - 2
5-13786331-A-T c.8777T>A p.M2926K Missense 52/79 - 1
5-13786332-T-C c.8776A>G p.M2926V Missense 52/79 - 1
5-13786335-C-T c.8773G>A p.G2925S Missense 52/79 - 1
5-13786338-C-T c.8770G>A p.A2924T Missense 52/79 - 2
5-13786340-C-T c.8768G>A p.G2923D Missense 52/79 - 1
5-13786343-C-G c.8765G>C p.R2922P Missense 52/79 - 1
5-13786343-C-T c.8765G>A p.R2922H Missense 52/79 - 13
5-13786344-G-A c.8764C>T p.R2922C Missense 52/79 - 2
5-13786345-G-A c.8763C>T p.I2921= Synonymous 52/79 - 1
5-13786349-C-A c.8759G>T p.S2920I Missense 52/79 - 1
5-13786351-C-A c.8757G>T p.E2919D Missense 52/79 - 1
5-13786351-C-G c.8757G>C p.E2919D Missense 52/79 - 7
5-13786351-C-T c.8757G>A p.E2919= Synonymous 52/79 - 2
5-13786352-T-A c.8756A>T p.E2919V Missense 52/79 - 2
5-13786353-C-A c.8755G>T p.E2919* Nonsense 52/79 - 1
5-13786356-T-A c.8752A>T p.N2918Y Missense 52/79 - 2
5-13786357-A-C c.8751T>G p.Y2917* Nonsense 52/79 - 1
5-13786357-A-T c.8751T>A p.Y2917* Nonsense 52/79 - 1
5-13786358-T-C c.8750A>G p.Y2917C Missense 52/79 - 2
5-13786362-G-A c.8746C>T p.L2916F Missense 52/79 - 1
5-13786364-T-C c.8744A>G p.Q2915R Missense 52/79 - 1
5-13786367-A-G c.8741T>C p.L2914P Missense 52/79 - 1
5-13786369-G-A c.8739C>T p.F2913= Synonymous 52/79 - 4
5-13786375-A-C c.8733T>G p.N2911K Missense 52/79 - 1
5-13786375-A-T c.8733T>A p.N2911K Missense 52/79 - 1
5-13786376-T-C c.8732A>G p.N2911S Missense 52/79 - 2
5-13786378-C-A c.8730G>T p.L2910= Synonymous 52/79 - 2
5-13786378-C-G c.8730G>C p.L2910= Synonymous 52/79 - 1
5-13786378-C-T c.8730G>A p.L2910= Synonymous 52/79 - 1
5-13786380-G-A c.8728C>T p.L2910= Synonymous 52/79 - 1
5-13786382-C-A c.8726G>T p.R2909L Missense 52/79 - 5
5-13786382-C-T c.8726G>A p.R2909H Missense 52/79 - 9
5-13786383-G-A c.8725C>T p.R2909C Missense 52/79 - 6
5-13786387-T-C c.8721A>G p.K2907= Synonymous 52/79 - 1
5-13786392-G-A c.8716C>T p.L2906= Synonymous 52/79 - 1
5-13786393-G-C c.8715C>G p.H2905Q Missense 52/79 - 1
5-13786407-C-T c.8701G>A p.E2901K Missense 52/79 - 2
5-13786410-T-C c.8698A>G p.I2900V Missense 52/79 - 1
5-13786415-T-G c.8693A>C p.E2898A Missense 52/79 - 1
5-13786416-C-T c.8692G>A p.E2898K Missense 52/79 - 1
5-13786418-T-C c.8690A>G p.Y2897C Missense 52/79 - 1
5-13786421-A-G c.8687T>C p.I2896T Missense 52/79 - 1
5-13786422-T-G c.8686A>C p.I2896L Missense 52/79 - 1
5-13786424-T-A c.8684A>T p.K2895I Missense 52/79 - 1
5-13786431-T-A c.8677A>T p.T2893S Missense 52/79 - 1
5-13786434-C-T c.8674G>A p.E2892K Missense 52/79 - 5
5-13786436-G-T c.8672C>A p.A2891D Missense 52/79 - 2
5-13786444-C-T c.8664G>A p.E2888= Synonymous 52/79 - 2
5-13786446-C-A c.8662G>T p.E2888* Nonsense 52/79 - 1
5-13786449-C-T c.8659G>A p.E2887K Missense 52/79 - 7
5-13786454-G-A c.8654C>T p.T2885I Missense 52/79 - 1
5-13786455-T-C c.8653A>G p.T2885A Missense 52/79 - 3
5-13786458-C-T c.8650G>A p.E2884K Missense 52/79 - 6
5-13786460-C-A c.8648G>T p.G2883V Missense 52/79 - 1
5-13786460-C-T c.8648G>A p.G2883D Missense 52/79 - 1
5-13786487-A-C c.8648-27T>G - IntronicSNV - 51/78 1
5-13786487-A-G c.8648-27T>C - IntronicSNV - 51/78 1
5-13787245-T-C c.8648-785A>G - IntronicSNV - 51/78 1
5-13788830-G-C c.8642C>G p.A2881G Missense 51/79 - 2
5-13788834-C-A c.8638G>T p.E2880* Nonsense 51/79 - 1
5-13788836-G-A c.8636C>T p.P2879L Missense 51/79 - 5
5-13788837-G-A c.8635C>T p.P2879S Missense 51/79 - 1
5-13788843-C-A c.8629G>T p.D2877Y Missense 51/79 - 1
5-13788845-C-T c.8627G>A p.R2876K Missense 51/79 - 6
5-13788847-C-A c.8625G>T p.L2875F Missense 51/79 - 1
5-13788847-C-G c.8625G>C p.L2875F Missense 51/79 - 1
5-13788854-T-G c.8618A>C p.D2873A Missense 51/79 - 1
5-13788855-C-A c.8617G>T p.D2873Y Missense 51/79 - 4
5-13788855-CC-AT c.8616_8617delinsAT p.D2873Y Missense 51/79 - 1
5-13788855-C-T c.8617G>A p.D2873N Missense 51/79 - 3
5-13788856-CAC-GAT c.8614_8616delinsATC p.V2872I Missense 51/79 - 1
5-13788856-C-T c.8616G>A p.V2872= Synonymous 51/79 - 2
5-13788858-C-A c.8614G>T p.V2872L Missense 51/79 - 3
5-13788858-C-G c.8614G>C p.V2872L Missense 51/79 - 1
5-13788861-A-G c.8611T>C p.F2871L Missense 51/79 - 1
5-13788863-T-C c.8609A>G p.Y2870C Missense 51/79 - 1
5-13788864-A-G c.8608T>C p.Y2870H Missense 51/79 - 1
5-13788868-G-C c.8604C>G p.D2868E Missense 51/79 - 2
5-13788868-G-T c.8604C>A p.D2868E Missense 51/79 - 2
5-13788870-C-G c.8602G>C p.D2868H Missense 51/79 - 4
5-13788871-A-C c.8601T>G p.I2867M Missense 51/79 - 1
5-13788871-A-G c.8601T>C p.I2867= Synonymous 51/79 - 1
5-13788871-A-T c.8601T>A p.I2867= Synonymous 51/79 - 1
5-13788872-A-G c.8600T>C p.I2867T Missense 51/79 - 1
5-13788874-T-C c.8598A>G p.G2866= Synonymous 51/79 - 4
5-13788875-C-T c.8597G>A p.G2866E Missense 51/79 - 5
5-13788876-C-G c.8596G>C p.G2866R Missense 51/79 - 1
5-13788876-C-T c.8596G>A p.G2866R Missense 51/79 - 1
5-13788882-C-T c.8590G>A p.D2864N Missense 51/79 - 3
5-13788883-C-A c.8589G>T p.V2863= Synonymous 51/79 - 1
5-13788883-C-G c.8589G>C p.V2863= Synonymous 51/79 - 1
5-13788883-C-T c.8589G>A p.V2863= Synonymous 51/79 - 1
5-13788886-C-A c.8586G>T p.L2862F Missense 51/79 - 30
5-13788886-C-G c.8586G>C p.L2862F Missense 51/79 - 5
5-13788889-G-C c.8583C>G p.L2861= Synonymous 51/79 - 4
5-13788893-T-A c.8579A>T p.K2860I Missense 51/79 - 3
5-13788895-T-A c.8577A>T p.K2859N Missense 51/79 - 1
5-13788895-T-G c.8577A>C p.K2859N Missense 51/79 - 1
5-13788898-C-T c.8574G>A p.E2858= Synonymous 51/79 - 2
5-13788903-C-T c.8569G>A p.E2857K Missense 51/79 - 1
5-13788905-C-A c.8567G>T p.G2856V Missense 51/79 - 1
5-13788906-C-T c.8566G>A p.G2856S Missense 51/79 - 1
5-13788910-C-T c.8562G>A p.E2854= Synonymous 51/79 - 2
5-13788915-C-T c.8557G>A p.E2853K Missense 51/79 - 3
5-13788916-C-T c.8556G>A p.E2852= Synonymous 51/79 - 1
5-13788920-A-G c.8552T>C p.V2851A Missense 51/79 - 1
5-13788921-C-T c.8551G>A p.V2851I Missense 51/79 - 7
5-13788922-C-A c.8550G>T p.L2850F Missense 51/79 - 1
5-13788922-C-G c.8550G>C p.L2850F Missense 51/79 - 1
5-13788922-C-T c.8550G>A p.L2850= Synonymous 51/79 - 4
5-13788925-A-C c.8547T>G p.S2849R Missense 51/79 - 1
5-13788925-A-T c.8547T>A p.S2849R Missense 51/79 - 1
5-13788927-T-G c.8545A>C p.S2849R Missense 51/79 - 1
5-13788931-T-A c.8541A>T p.L2847F Missense 51/79 - 1
5-13788932-A-G c.8540T>C p.L2847S Missense 51/79 - 1
5-13788933-A-C c.8539T>G p.L2847V Missense 51/79 - 1
5-13788935-G-T c.8537C>A p.A2846D Missense 51/79 - 1
5-13788937-C-T c.8535G>A p.K2845= Synonymous 51/79 - 4
5-13788938-T-C c.8534A>G p.K2845R Missense 51/79 - 1
5-13788939-T-C c.8533A>G p.K2845E Missense 51/79 - 2
5-13788942-C-T c.8530G>A p.D2844N Missense 51/79 - 7
5-13788944-A-G c.8528T>C p.F2843S Missense 51/79 - 2
5-13788944-A-T c.8528T>A p.F2843Y Missense 51/79 - 1
5-13788946-C-A c.8526G>T p.W2842C Missense 51/79 - 1
5-13788947-C-A c.8525G>T p.W2842L Missense 51/79 - 3
5-13788947-C-G c.8525G>C p.W2842S Missense 51/79 - 1
5-13788950-G-A c.8522C>T p.T2841I Missense 51/79 - 3
5-13788952-C-A c.8520G>T p.V2840= Synonymous 51/79 - 1
5-13788952-C-G c.8520G>C p.V2840= Synonymous 51/79 - 1
5-13788952-C-T c.8520G>A p.V2840= Synonymous 51/79 - 1
5-13788957-C-T c.8515G>A p.D2839N Missense 51/79 - 1
5-13788960-T-G c.8512A>C p.S2838R Missense 51/79 - 2
5-13788961-G-A c.8511C>T p.S2837= Synonymous 51/79 - 1
5-13788966-C-T c.8506G>A p.V2836M Missense 51/79 - 3
5-13788974-C-T c.8498G>A p.R2833H Missense 51/79 - 4
5-13788973-ACGGTCAG-A c.8492_8498del p.A2831Vfs*8 Frameshift 51/79 - 1
5-13788975-G-A c.8497C>T p.R2833C Missense 51/79 - 3
5-13788975-G-T c.8497C>A p.R2833S Missense 51/79 - 1
5-13788976-G-A c.8496C>T p.D2832= Synonymous 51/79 - 3
5-13788980-G-A c.8492C>T p.A2831V Missense 51/79 - 1
5-13788982-T-C c.8490A>G p.I2830M Missense 51/79 - 1
5-13788983-A-G c.8489T>C p.I2830T Missense 51/79 - 3
5-13788984-T-C c.8488A>G p.I2830V Missense 51/79 - 1
5-13788989-C-T c.8483G>A p.R2828H Missense 51/79 - 1
5-13788990-G-A c.8482C>T p.R2828C Missense 51/79 - 3
5-13788991-T-A c.8481A>T p.K2827N Missense 51/79 - 1
5-13788991-T-G c.8481A>C p.K2827N Missense 51/79 - 1
5-13788992-T-C c.8480A>G p.K2827R Missense 51/79 - 2
5-13788995-C-T c.8477G>A p.C2826Y Missense 51/79 - 1
5-13788996-A-G c.8476T>C p.C2826R Missense 51/79 - 1
5-13789006-C-T c.8466G>A p.W2822* Nonsense 51/79 - 3
5-13789007-C-T c.8465G>A p.W2822* Nonsense 51/79 - 1
5-13789009-C-A c.8463G>T p.L2821= Synonymous 51/79 - 1
5-13789010-A-C c.8462T>G p.L2821R Missense 51/79 - 3
5-13789010-A-G c.8462T>C p.L2821P Missense 51/79 - 1
5-13789011-G-A c.8461C>T p.L2821= Synonymous 51/79 - 2
5-13789012-CT-C c.8459del p.K2820Sfs*11 Frameshift 51/79 - 1
5-13789021-A-T c.8451T>A p.D2817E Missense 51/79 - 1
5-13789023-C-A c.8449G>T p.D2817Y Missense 51/79 - 1
5-13789035-A-C c.8449-12T>G - IntronicSNV - 50/78 1
5-13789035-A-G c.8449-12T>C - IntronicSNV - 50/78 1
5-13791213-T-A c.8448+890A>T - IntronicSNV - 50/78 1
5-13791860-TA-T c.8448+242del - IntronicDeletion - 50/78 1
5-13792104-ATTTGGTTC-A c.8440_8447del p.E2814* SpliceDonorDeletion 50/79 - 3
5-13792111-C-A c.8440G>T p.E2814* Nonsense 50/79 - 1
5-13792111-C-CTTA c.8439_8440insTAA p.K2813_E2814ins* InFrameInsertion 50/79 - 1
5-13792111-C-G c.8440G>C p.E2814Q Missense 50/79 - 1
5-13792111-C-T c.8440G>A p.E2814K Missense 50/79 - 2
5-13792112-C-T c.8439G>A p.K2813= Synonymous 50/79 - 1
5-13792117-T-G c.8434A>C p.I2812L Missense 50/79 - 1
5-13792118-G-A c.8433C>T p.V2811= Synonymous 50/79 - 3
5-13792125-G-A c.8426C>T p.S2809L Missense 50/79 - 9
5-13792128-G-A c.8423C>T p.T2808I Missense 50/79 - 3
5-13792129-T-C c.8422A>G p.T2808A Missense 50/79 - 1
5-13792130-A-C c.8421T>G p.T2807= Synonymous 50/79 - 1
5-13792130-A-G c.8421T>C p.T2807= Synonymous 50/79 - 1
5-13792130-A-T c.8421T>A p.T2807= Synonymous 50/79 - 1
5-13792131-G-A c.8420C>T p.T2807I Missense 50/79 - 1
5-13792133-G-A c.8418C>T p.N2806= Synonymous 50/79 - 1
5-13792135-T-A c.8416A>T p.N2806Y Missense 50/79 - 1
5-13792136-C-A c.8415G>T p.L2805= Synonymous 50/79 - 1
5-13792136-C-G c.8415G>C p.L2805= Synonymous 50/79 - 1
5-13792136-C-T c.8415G>A p.L2805= Synonymous 50/79 - 3
5-13792138-G-A c.8413C>T p.L2805= Synonymous 50/79 - 1
5-13792137-A-C c.8414T>G p.L2805R Missense 50/79 - 2
5-13792139-C-T c.8412G>A p.M2804I Missense 50/79 - 1
5-13792141-T-G c.8410A>C p.M2804L Missense 50/79 - 1
5-13792143-C-T c.8408G>A p.G2803E Missense 50/79 - 2
5-13792144-C-G c.8407G>C p.G2803R Missense 50/79 - 1
5-13792144-C-T c.8407G>A p.G2803R Missense 50/79 - 4
5-13792147-G-A c.8404C>T p.Q2802* Nonsense 50/79 - 5
5-13792148-C-T c.8403G>A p.W2801* Nonsense 50/79 - 4
5-13792149-C-T c.8402G>A p.W2801* Nonsense 50/79 - 1
5-13792151-G-A c.8400C>T p.V2800= Synonymous 50/79 - 2
5-13792153-C-T c.8398G>A p.V2800I Missense 50/79 - 3
5-13792154-C-A c.8397G>T p.R2799= Synonymous 50/79 - 1
5-13792154-C-T c.8397G>A p.R2799= Synonymous 50/79 - 1
5-13792155-C-A c.8396G>T p.R2799L Missense 50/79 - 1
5-13792155-C-T c.8396G>A p.R2799Q Missense 50/79 - 1
5-13792156-G-A c.8395C>T p.R2799W Missense 50/79 - 5
5-13792157-A-C c.8394T>G p.S2798= Synonymous 50/79 - 1
5-13792157-A-G c.8394T>C p.S2798= Synonymous 50/79 - 1
5-13792157-A-T c.8394T>A p.S2798= Synonymous 50/79 - 1
5-13792158-G-A c.8393C>T p.S2798F Missense 50/79 - 3
5-13792159-A-C c.8392T>G p.S2798A Missense 50/79 - 1
5-13792162-G-A c.8389C>T p.L2797F Missense 50/79 - 4
5-13792164-T-C c.8387A>G p.D2796G Missense 50/79 - 2
5-13792167-C-T c.8384G>A p.R2795Q Missense 50/79 - 7
5-13792168-G-A c.8383C>T p.R2795* Nonsense 50/79 - 5
5-13792169-T-A c.8382A>T p.L2794= Synonymous 50/79 - 1
5-13792169-T-C c.8382A>G p.L2794= Synonymous 50/79 - 1
5-13792169-T-G c.8382A>C p.L2794= Synonymous 50/79 - 1
5-13792171-G-A c.8380C>T p.L2794= Synonymous 50/79 - 1
5-13792182-T-C c.8369A>G p.Y2790C Missense 50/79 - 1
5-13792186-G-A c.8365C>T p.H2789Y Missense 50/79 - 8
5-13792187-G-A c.8364C>T p.F2788= Synonymous 50/79 - 4
5-13792191-T-C c.8360A>G p.K2787R Missense 50/79 - 1
5-13792192-T-G c.8359A>C p.K2787Q Missense 50/79 - 2
5-13792194-G-C c.8357C>G p.A2786G Missense 50/79 - 2
5-13792196-A-C c.8355T>G p.P2785= Synonymous 50/79 - 1
5-13792196-A-G c.8355T>C p.P2785= Synonymous 50/79 - 1
5-13792196-A-T c.8355T>A p.P2785= Synonymous 50/79 - 1
5-13792198-G-A c.8353C>T p.P2785S Missense 50/79 - 1
5-13792199-G-T c.8352C>A p.T2784= Synonymous 50/79 - 1
5-13792211-T-A c.8340A>T p.K2780N Missense 50/79 - 4
5-13792211-T-G c.8340A>C p.K2780N Missense 50/79 - 2
5-13792215-A-T c.8336T>A p.I2779N Missense 50/79 - 1
5-13792218-T-C c.8333A>G p.K2778R Missense 50/79 - 1
5-13792219-T-C c.8332A>G p.K2778E Missense 50/79 - 1
5-13792219-T-G c.8332A>C p.K2778Q Missense 50/79 - 1
5-13792220-G-A c.8331C>T p.T2777= Synonymous 50/79 - 1
5-13792220-G-C c.8331C>G p.T2777= Synonymous 50/79 - 1
5-13792220-G-T c.8331C>A p.T2777= Synonymous 50/79 - 1
5-13792223-C-T c.8328G>A p.M2776I Missense 50/79 - 3
5-13792228-G-A c.8323C>T p.Q2775* Nonsense 50/79 - 2
5-13792228-G-C c.8323C>G p.Q2775E Missense 50/79 - 1
5-13792229-C-CG c.8321_8322insC p.W2774Cfs*7 Frameshift 50/79 - 1
5-13792229-C-T c.8322G>A p.W2774* Nonsense 50/79 - 1
5-13792230-C-T c.8321G>A p.W2774* Nonsense 50/79 - 4
5-13792232-T-G c.8319A>C p.L2773= Synonymous 50/79 - 1
5-13792236-C-T c.8315G>A p.R2772Q Missense 50/79 - 1
5-13792237-G-A c.8314C>T p.R2772* Nonsense 50/79 - 3
5-13792240-G-A c.8311C>T p.R2771C Missense 50/79 - 2
5-13792242-G-A c.8309C>T p.T2770I Missense 50/79 - 1
5-13792244-C-A c.8307G>T p.L2769= Synonymous 50/79 - 1
5-13792244-C-G c.8307G>C p.L2769= Synonymous 50/79 - 1
5-13792244-C-T c.8307G>A p.L2769= Synonymous 50/79 - 1
5-13792246-G-A c.8305C>T p.L2769= Synonymous 50/79 - 1
5-13792245-A-G c.8306T>C p.L2769P Missense 50/79 - 1
5-13792248-G-A c.8303C>T p.P2768L Missense 50/79 - 2
5-13792252-C-A c.8299G>T p.V2767L Missense 50/79 - 2
5-13792252-C-G c.8299G>C p.V2767L Missense 50/79 - 1
5-13792255-A-C c.8296T>G p.L2766V Missense 50/79 - 1
5-13792258-T-G c.8293A>C p.K2765Q Missense 50/79 - 1
5-13792259-T-A c.8292A>T p.T2764= Synonymous 50/79 - 1
5-13792259-T-C c.8292A>G p.T2764= Synonymous 50/79 - 1
5-13792259-T-G c.8292A>C p.T2764= Synonymous 50/79 - 1
5-13792260-G-A c.8291C>T p.T2764I Missense 50/79 - 1
5-13792266-G-A c.8285C>T p.S2762F Missense 50/79 - 1
5-13792270-C-A c.8281G>T p.D2761Y Missense 50/79 - 1
5-13792271-T-C c.8280A>G p.R2760= Synonymous 50/79 - 1
5-13792273-T-C c.8278A>G p.R2760G Missense 50/79 - 2
5-13792274-C-T c.8277G>A p.V2759= Synonymous 50/79 - 4
5-13792275-A-G c.8276T>C p.V2759A Missense 50/79 - 1
5-13792275-A-T c.8276T>A p.V2759E Missense 50/79 - 1
5-13792276-C-A c.8275G>T p.V2759L Missense 50/79 - 2
5-13792276-C-G c.8275G>C p.V2759L Missense 50/79 - 1
5-13792278-T-G c.8273A>C p.E2758A Missense 50/79 - 2
5-13792279-C-A c.8272G>T p.E2758* Nonsense 50/79 - 1
5-13792282-C-T c.8269G>A p.E2757K Missense 50/79 - 1
5-13792283-T-A c.8268A>T p.S2756= Synonymous 50/79 - 2
5-13792283-T-C c.8268A>G p.S2756= Synonymous 50/79 - 1
5-13792283-T-G c.8268A>C p.S2756= Synonymous 50/79 - 1
5-13792284-G-C c.8267C>G p.S2756* Nonsense 50/79 - 1
5-13792284-G-T c.8267C>A p.S2756* Nonsense 50/79 - 1
5-13792286-G-T c.8265C>A p.F2755L Missense 50/79 - 3
5-13792287-A-G c.8264T>C p.F2755S Missense 50/79 - 4
5-13792286-G-C c.8265C>G p.F2755L Missense 50/79 - 1
5-13792288-A-G c.8263T>C p.F2755L Missense 50/79 - 1
5-13792289-A-C c.8262T>G p.G2754= Synonymous 50/79 - 1
5-13792289-A-G c.8262T>C p.G2754= Synonymous 50/79 - 1
5-13792289-A-T c.8262T>A p.G2754= Synonymous 50/79 - 1
5-13792290-C-A c.8261G>T p.G2754V Missense 50/79 - 2
5-13792290-CC-AA c.8260_8261delinsTT p.G2754F Missense 50/79 - 1
5-13792290-C-T c.8261G>A p.G2754D Missense 50/79 - 1
5-13792291-C-A c.8260G>T p.G2754C Missense 50/79 - 2
5-13792295-C-G c.8256G>C p.Q2752H Missense 50/79 - 1
5-13792305-T-A c.8246A>T p.Y2749F Missense 50/79 - 1
5-13792309-G-GA c.8241_8242insT p.H2748Sfs*33 Frameshift 50/79 - 1
5-13792313-TAC-CAT c.8236_8238delinsATG p.V2746M