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 |
|