14-105403638-G-A |
c.*762C>T |
- |
3-UTRSNV |
7/7 |
- |
1 |
14-105403638-G-C |
c.*762C>G |
- |
3-UTRSNV |
7/7 |
- |
1 |
14-105404384-T-C |
c.*16A>G |
- |
3-UTRSNV |
7/7 |
- |
16 |
14-105404384-T-G |
c.*16A>C |
- |
3-UTRSNV |
7/7 |
- |
16 |
14-105404385-G-A |
c.*15C>T |
- |
3-UTRSNV |
7/7 |
- |
1 |
14-105404404-C-G |
c.17384G>C |
p.G5795A |
Missense |
7/7 |
- |
1 |
14-105404404-C-T |
c.17384G>A |
p.G5795D |
Missense |
7/7 |
- |
1 |
14-105404407-T-C |
c.17381A>G |
p.E5794G |
Missense |
7/7 |
- |
1 |
14-105404408-C-T |
c.17380G>A |
p.E5794K |
Missense |
7/7 |
- |
1 |
14-105404409-A-G |
c.17379T>C |
p.N5793= |
Synonymous |
7/7 |
- |
3 |
14-105404410-T-C |
c.17378A>G |
p.N5793S |
Missense |
7/7 |
- |
1 |
14-105404423-C-T |
c.17365G>A |
p.G5789S |
Missense |
7/7 |
- |
2 |
14-105404438-C-T |
c.17350G>A |
p.E5784K |
Missense |
7/7 |
- |
2 |
14-105404441-C-T |
c.17347G>A |
p.D5783N |
Missense |
7/7 |
- |
2 |
14-105404459-G-A |
c.17329C>T |
p.Q5777* |
Nonsense |
7/7 |
- |
1 |
14-105404461-T-C |
c.17327A>G |
p.E5776G |
Missense |
7/7 |
- |
2 |
14-105404463-G-A |
c.17325C>T |
p.P5775= |
Synonymous |
7/7 |
- |
5 |
14-105404463-G-C |
c.17325C>G |
p.P5775= |
Synonymous |
7/7 |
- |
1 |
14-105404463-G-T |
c.17325C>A |
p.P5775= |
Synonymous |
7/7 |
- |
1 |
14-105404482-C-A |
c.17306G>T |
p.R5769I |
Missense |
7/7 |
- |
2 |
14-105404487-C-T |
c.17301G>A |
p.A5767= |
Synonymous |
7/7 |
- |
2 |
14-105404488-G-A |
c.17300C>T |
p.A5767V |
Missense |
7/7 |
- |
3 |
14-105404489-C-T |
c.17299G>A |
p.A5767T |
Missense |
7/7 |
- |
1 |
14-105404490-G-A |
c.17298C>T |
p.S5766= |
Synonymous |
7/7 |
- |
2 |
14-105404490-G-C |
c.17298C>G |
p.S5766= |
Synonymous |
7/7 |
- |
1 |
14-105404490-G-T |
c.17298C>A |
p.S5766= |
Synonymous |
7/7 |
- |
1 |
14-105404502-C-T |
c.17286G>A |
p.V5762= |
Synonymous |
7/7 |
- |
1 |
14-105404507-CTG-C |
c.17280_17281del |
p.R5761Sfs*21 |
Frameshift |
7/7 |
- |
1 |
14-105404509-G-T |
c.17279C>A |
p.S5760Y |
Missense |
7/7 |
- |
2 |
14-105404516-G-A |
c.17272C>T |
p.L5758= |
Synonymous |
7/7 |
- |
1 |
14-105404532-C-G |
c.17256G>C |
p.G5752= |
Synonymous |
7/7 |
- |
1 |
14-105404534-C-A |
c.17254G>T |
p.G5752W |
Missense |
7/7 |
- |
1 |
14-105404534-C-G |
c.17254G>C |
p.G5752R |
Missense |
7/7 |
- |
2 |
14-105404534-C-T |
c.17254G>A |
p.G5752R |
Missense |
7/7 |
- |
2 |
14-105404535-G-A |
c.17253C>T |
p.I5751= |
Synonymous |
7/7 |
- |
1 |
14-105404535-G-T |
c.17253C>A |
p.I5751= |
Synonymous |
7/7 |
- |
1 |
14-105404536-A-G |
c.17252T>C |
p.I5751T |
Missense |
7/7 |
- |
1 |
14-105404544-A-C |
c.17244T>G |
p.G5748= |
Synonymous |
7/7 |
- |
1 |
14-105404544-A-G |
c.17244T>C |
p.G5748= |
Synonymous |
7/7 |
- |
1 |
14-105404544-A-T |
c.17244T>A |
p.G5748= |
Synonymous |
7/7 |
- |
1 |
14-105404547-C-A |
c.17241G>T |
p.E5747D |
Missense |
7/7 |
- |
1 |
14-105404547-C-G |
c.17241G>C |
p.E5747D |
Missense |
7/7 |
- |
2 |
14-105404558-C-G |
c.17230G>C |
p.E5744Q |
Missense |
7/7 |
- |
1 |
14-105404564-G-A |
c.17224C>T |
p.P5742S |
Missense |
7/7 |
- |
1 |
14-105404568-G-T |
c.17220C>A |
p.F5740L |
Missense |
7/7 |
- |
1 |
14-105404575-T-C |
c.17213A>G |
p.E5738G |
Missense |
7/7 |
- |
1 |
14-105404578-C-A |
c.17210G>T |
p.R5737L |
Missense |
7/7 |
- |
1 |
14-105404579-G-A |
c.17209C>T |
p.R5737* |
Nonsense |
7/7 |
- |
1 |
14-105404593-G-A |
c.17195C>T |
p.T5732M |
Missense |
7/7 |
- |
2 |
14-105404593-G-C |
c.17195C>G |
p.T5732R |
Missense |
7/7 |
- |
1 |
14-105404600-T-C |
c.17188A>G |
p.T5730A |
Missense |
7/7 |
- |
1 |
14-105404603-C-A |
c.17185G>T |
p.E5729* |
Nonsense |
7/7 |
- |
2 |
14-105404609-G-A |
c.17179C>T |
p.Q5727* |
Nonsense |
7/7 |
- |
3 |
14-105404609-G-T |
c.17179C>A |
p.Q5727K |
Missense |
7/7 |
- |
1 |
14-105404618-G-T |
c.17170C>A |
p.Q5724K |
Missense |
7/7 |
- |
1 |
14-105404624-C-G |
c.17164G>C |
p.E5722Q |
Missense |
7/7 |
- |
1 |
14-105404624-C-T |
c.17164G>A |
p.E5722K |
Missense |
7/7 |
- |
1 |
14-105404628-C-A |
c.17160G>T |
p.E5720D |
Missense |
7/7 |
- |
1 |
14-105404628-C-G |
c.17160G>C |
p.E5720D |
Missense |
7/7 |
- |
1 |
14-105404630-C-G |
c.17158G>C |
p.E5720Q |
Missense |
7/7 |
- |
1 |
14-105404635-C-A |
c.17153G>T |
p.G5718V |
Missense |
7/7 |
- |
1 |
14-105404636-C-A |
c.17152G>T |
p.G5718W |
Missense |
7/7 |
- |
1 |
14-105404639-C-T |
c.17149G>A |
p.D5717N |
Missense |
7/7 |
- |
1 |
14-105404642-C-A |
c.17146G>T |
p.E5716* |
Nonsense |
7/7 |
- |
1 |
14-105404642-C-T |
c.17146G>A |
p.E5716K |
Missense |
7/7 |
- |
2 |
14-105404643-G-A |
c.17145C>T |
p.T5715= |
Synonymous |
7/7 |
- |
1 |
14-105404643-G-C |
c.17145C>G |
p.T5715= |
Synonymous |
7/7 |
- |
1 |
14-105404643-G-T |
c.17145C>A |
p.T5715= |
Synonymous |
7/7 |
- |
1 |
14-105404644-G-A |
c.17144C>T |
p.T5715I |
Missense |
7/7 |
- |
1 |
14-105404645-T-C |
c.17143A>G |
p.T5715A |
Missense |
7/7 |
- |
5 |
14-105404663-TAGG-T |
c.17122_17124del |
p.P5708del |
InFrameDeletion |
7/7 |
- |
1 |
14-105404667-A-C |
c.17121T>G |
p.S5707= |
Synonymous |
7/7 |
- |
1 |
14-105404667-A-G |
c.17121T>C |
p.S5707= |
Synonymous |
7/7 |
- |
1 |
14-105404667-A-T |
c.17121T>A |
p.S5707= |
Synonymous |
7/7 |
- |
1 |
14-105404671-G-A |
c.17117C>T |
p.S5706L |
Missense |
7/7 |
- |
1 |
14-105404671-G-C |
c.17117C>G |
p.S5706* |
Nonsense |
7/7 |
- |
1 |
14-105404671-G-T |
c.17117C>A |
p.S5706* |
Nonsense |
7/7 |
- |
3 |
14-105404670-TGAG-T |
c.17115_17117del |
p.S5707del |
InFrameDeletion |
7/7 |
- |
1 |
14-105404688-G-A |
c.17100C>T |
p.P5700= |
Synonymous |
7/7 |
- |
1 |
14-105404688-G-C |
c.17100C>G |
p.P5700= |
Synonymous |
7/7 |
- |
1 |
14-105404688-G-T |
c.17100C>A |
p.P5700= |
Synonymous |
7/7 |
- |
1 |
14-105404689-G-A |
c.17099C>T |
p.P5700L |
Missense |
7/7 |
- |
2 |
14-105404695-C-T |
c.17093G>A |
p.R5698Q |
Missense |
7/7 |
- |
2 |
14-105404696-G-A |
c.17092C>T |
p.R5698* |
Nonsense |
7/7 |
- |
3 |
14-105404715-C-T |
c.17073G>A |
p.Q5691= |
Synonymous |
7/7 |
- |
1 |
14-105404715-C-CT |
c.17072dup |
p.E5692Gfs*44 |
Frameshift |
7/7 |
- |
1 |
14-105404722-T-C |
c.17066A>G |
p.K5689R |
Missense |
7/7 |
- |
1 |
14-105404717-GT-G |
c.17070del |
p.K5690Nfs*13 |
Frameshift |
7/7 |
- |
2 |
14-105404723-T-TA |
c.17064dup |
p.K5689* |
Nonsense |
7/7 |
- |
1 |
14-105404729-G-C |
c.17059C>G |
p.L5687V |
Missense |
7/7 |
- |
2 |
14-105404734-G-A |
c.17054C>T |
p.A5685V |
Missense |
7/7 |
- |
1 |
14-105404743-C-T |
c.17045G>A |
p.R5682Q |
Missense |
7/7 |
- |
1 |
14-105404761-T-C |
c.17027A>G |
p.Q5676R |
Missense |
7/7 |
- |
1 |
14-105404772-A-C |
c.17016T>G |
p.S5672= |
Synonymous |
7/7 |
- |
1 |
14-105404772-A-G |
c.17016T>C |
p.S5672= |
Synonymous |
7/7 |
- |
1 |
14-105404772-A-T |
c.17016T>A |
p.S5672= |
Synonymous |
7/7 |
- |
1 |
14-105404775-T-A |
c.17013A>T |
p.R5671S |
Missense |
7/7 |
- |
1 |
14-105404775-T-C |
c.17013A>G |
p.R5671= |
Synonymous |
7/7 |
- |
2 |
14-105404775-T-G |
c.17013A>C |
p.R5671S |
Missense |
7/7 |
- |
1 |
14-105404777-T-G |
c.17011A>C |
p.R5671= |
Synonymous |
7/7 |
- |
1 |
14-105404783-C-T |
c.17005G>A |
p.V5669I |
Missense |
7/7 |
- |
2 |
14-105404784-G-A |
c.17004C>T |
p.D5668= |
Synonymous |
7/7 |
- |
1 |
14-105404793-G-A |
c.16995C>T |
p.S5665= |
Synonymous |
7/7 |
- |
1 |
14-105404793-G-C |
c.16995C>G |
p.S5665= |
Synonymous |
7/7 |
- |
1 |
14-105404793-G-T |
c.16995C>A |
p.S5665= |
Synonymous |
7/7 |
- |
1 |
14-105404794-G-A |
c.16994C>T |
p.S5665F |
Missense |
7/7 |
- |
4 |
14-105404808-C-T |
c.16980G>A |
p.E5660= |
Synonymous |
7/7 |
- |
1 |
14-105404811-A-C |
c.16977T>G |
p.D5659E |
Missense |
7/7 |
- |
1 |
14-105404808-CTCA-C |
c.16977_16979del |
p.D5659del |
InFrameDeletion |
7/7 |
- |
1 |
14-105404824-G-A |
c.16964C>T |
p.S5655F |
Missense |
7/7 |
- |
2 |
14-105404842-A-G |
c.16946T>C |
p.L5649P |
Missense |
7/7 |
- |
1 |
14-105404844-C-T |
c.16944G>A |
p.W5648* |
Nonsense |
7/7 |
- |
4 |
14-105404845-C-T |
c.16943G>A |
p.W5648* |
Nonsense |
7/7 |
- |
3 |
14-105404850-C-T |
c.16938G>A |
p.W5646* |
Nonsense |
7/7 |
- |
1 |
14-105404860-C-A |
c.16928G>T |
p.G5643V |
Missense |
7/7 |
- |
3 |
14-105404861-C-A |
c.16927G>T |
p.G5643C |
Missense |
7/7 |
- |
1 |
14-105404863-G-T |
c.16925C>A |
p.S5642Y |
Missense |
7/7 |
- |
1 |
14-105404866-T-G |
c.16922A>C |
p.K5641T |
Missense |
7/7 |
- |
1 |
14-105404872-C-T |
c.16916G>A |
p.S5639N |
Missense |
7/7 |
- |
2 |
14-105404876-C-T |
c.16912G>A |
p.E5638K |
Missense |
7/7 |
- |
1 |
14-105404880-T-C |
c.16908A>G |
p.K5636= |
Synonymous |
7/7 |
- |
1 |
14-105404892-A-C |
c.16896T>G |
p.A5632= |
Synonymous |
7/7 |
- |
2 |
14-105404892-A-G |
c.16896T>C |
p.A5632= |
Synonymous |
7/7 |
- |
2 |
14-105404892-A-T |
c.16896T>A |
p.A5632= |
Synonymous |
7/7 |
- |
2 |
14-105404903-C-A |
c.16885G>T |
p.E5629* |
Nonsense |
7/7 |
- |
1 |
14-105404915-G-C |
c.16873C>G |
p.P5625A |
Missense |
7/7 |
- |
1 |
14-105404929-T-TG |
c.16858dup |
p.Q5620Pfs*10 |
Frameshift |
7/7 |
- |
1 |
14-105404931-G-C |
c.16857C>G |
p.S5619R |
Missense |
7/7 |
- |
1 |
14-105404931-G-T |
c.16857C>A |
p.S5619R |
Missense |
7/7 |
- |
1 |
14-105404944-G-A |
c.16844C>T |
p.P5615L |
Missense |
7/7 |
- |
5 |
14-105404945-G-A |
c.16843C>T |
p.P5615S |
Missense |
7/7 |
- |
1 |
14-105404967-C-T |
c.16821G>A |
p.E5607= |
Synonymous |
7/7 |
- |
1 |
14-105404976-T-A |
c.16812A>T |
p.S5604= |
Synonymous |
7/7 |
- |
1 |
14-105404976-T-C |
c.16812A>G |
p.S5604= |
Synonymous |
7/7 |
- |
2 |
14-105404976-T-G |
c.16812A>C |
p.S5604= |
Synonymous |
7/7 |
- |
1 |
14-105405008-G-A |
c.16780C>T |
p.P5594S |
Missense |
7/7 |
- |
2 |
14-105405009-A-C |
c.16779T>G |
p.V5593= |
Synonymous |
7/7 |
- |
2 |
14-105405009-A-G |
c.16779T>C |
p.V5593= |
Synonymous |
7/7 |
- |
1 |
14-105405009-A-T |
c.16779T>A |
p.V5593= |
Synonymous |
7/7 |
- |
1 |
14-105405018-AT-A |
c.16770del |
p.F5591Lfs*112 |
Frameshift |
7/7 |
- |
1 |
14-105405026-T-C |
c.16762A>G |
p.T5588A |
Missense |
7/7 |
- |
2 |
14-105405034-C-A |
c.16754G>T |
p.G5585V |
Missense |
7/7 |
- |
2 |
14-105405034-C-G |
c.16754G>C |
p.G5585A |
Missense |
7/7 |
- |
1 |
14-105405034-C-T |
c.16754G>A |
p.G5585E |
Missense |
7/7 |
- |
2 |
14-105405042-A-G |
c.16746T>C |
p.N5582= |
Synonymous |
7/7 |
- |
2 |
14-105405043-T-C |
c.16745A>G |
p.N5582S |
Missense |
7/7 |
- |
1 |
14-105405048-G-A |
c.16740C>T |
p.S5580= |
Synonymous |
7/7 |
- |
1 |
14-105405060-C-T |
c.16728G>A |
p.M5576I |
Missense |
7/7 |
- |
1 |
14-105405063-C-G |
c.16725G>C |
p.E5575D |
Missense |
7/7 |
- |
1 |
14-105405065-C-T |
c.16723G>A |
p.E5575K |
Missense |
7/7 |
- |
1 |
14-105405071-G-A |
c.16717C>T |
p.P5573S |
Missense |
7/7 |
- |
1 |
14-105405072-T-C |
c.16716A>G |
p.E5572= |
Synonymous |
7/7 |
- |
2 |
14-105405076-C-G |
c.16712G>C |
p.G5571A |
Missense |
7/7 |
- |
1 |
14-105405087-C-A |
c.16701G>T |
p.Q5567H |
Missense |
7/7 |
- |
1 |
14-105405087-C-G |
c.16701G>C |
p.Q5567H |
Missense |
7/7 |
- |
1 |
14-105405090-G-A |
c.16698C>T |
p.L5566= |
Synonymous |
7/7 |
- |
2 |
14-105405090-G-C |
c.16698C>G |
p.L5566= |
Synonymous |
7/7 |
- |
2 |
14-105405090-G-T |
c.16698C>A |
p.L5566= |
Synonymous |
7/7 |
- |
1 |
14-105405092-G-A |
c.16696C>T |
p.L5566F |
Missense |
7/7 |
- |
1 |
14-105405093-A-G |
c.16695T>C |
p.D5565= |
Synonymous |
7/7 |
- |
1 |
14-105405093-A-T |
c.16695T>A |
p.D5565E |
Missense |
7/7 |
- |
1 |
14-105405095-C-A |
c.16693G>T |
p.D5565Y |
Missense |
7/7 |
- |
1 |
14-105405097-C-T |
c.16691G>A |
p.G5564E |
Missense |
7/7 |
- |
1 |
14-105405108-G-A |
c.16680C>T |
p.D5560= |
Synonymous |
7/7 |
- |
2 |
14-105405119-G-A |
c.16669C>T |
p.P5557S |
Missense |
7/7 |
- |
3 |
14-105405130-A-G |
c.16658T>C |
p.I5553T |
Missense |
7/7 |
- |
2 |
14-105405133-G-T |
c.16655C>A |
p.P5552H |
Missense |
7/7 |
- |
1 |
14-105405137-C-G |
c.16651G>C |
p.A5551P |
Missense |
7/7 |
- |
1 |
14-105405147-G-A |
c.16641C>T |
p.G5547= |
Synonymous |
7/7 |
- |
1 |
14-105405147-G-C |
c.16641C>G |
p.G5547= |
Synonymous |
7/7 |
- |
1 |
14-105405147-G-T |
c.16641C>A |
p.G5547= |
Synonymous |
7/7 |
- |
2 |
14-105405148-C-T |
c.16640G>A |
p.G5547D |
Missense |
7/7 |
- |
2 |
14-105405157-G-A |
c.16631C>T |
p.T5544I |
Missense |
7/7 |
- |
1 |
14-105405159-C-T |
c.16629G>A |
p.R5543= |
Synonymous |
7/7 |
- |
1 |
14-105405160-C-T |
c.16628G>A |
p.R5543K |
Missense |
7/7 |
- |
2 |
14-105405162-A-C |
c.16626T>G |
p.S5542= |
Synonymous |
7/7 |
- |
1 |
14-105405162-A-G |
c.16626T>C |
p.S5542= |
Synonymous |
7/7 |
- |
1 |
14-105405162-A-T |
c.16626T>A |
p.S5542= |
Synonymous |
7/7 |
- |
1 |
14-105405166-T-C |
c.16622A>G |
p.H5541R |
Missense |
7/7 |
- |
1 |
14-105405170-G-C |
c.16618C>G |
p.Q5540E |
Missense |
7/7 |
- |
1 |
14-105405174-C-A |
c.16614G>T |
p.M5538I |
Missense |
7/7 |
- |
1 |
14-105405181-G-A |
c.16607C>T |
p.T5536I |
Missense |
7/7 |
- |
1 |
14-105405187-A-T |
c.16601T>A |
p.V5534E |
Missense |
7/7 |
- |
1 |
14-105405188-C-T |
c.16600G>A |
p.V5534M |
Missense |
7/7 |
- |
1 |
14-105405190-CT-TG |
c.16597_16598delinsCA |
p.R5533Q |
Missense |
7/7 |
- |
1 |
14-105405198-C-T |
c.16590G>A |
p.T5530= |
Synonymous |
7/7 |
- |
1 |
14-105405199-G-A |
c.16589C>T |
p.T5530M |
Missense |
7/7 |
- |
3 |
14-105405203-G-T |
c.16585C>A |
p.H5529N |
Missense |
7/7 |
- |
1 |
14-105405219-C-A |
c.16569G>T |
p.V5523= |
Synonymous |
7/7 |
- |
1 |
14-105405219-C-G |
c.16569G>C |
p.V5523= |
Synonymous |
7/7 |
- |
1 |
14-105405219-C-T |
c.16569G>A |
p.V5523= |
Synonymous |
7/7 |
- |
1 |
14-105405232-GA-CG |
c.16555_16556delinsCG |
p.S5519R |
Missense |
7/7 |
- |
1 |
14-105405237-T-C |
c.16551A>G |
p.G5517= |
Synonymous |
7/7 |
- |
1 |
14-105405240-G-C |
c.16548C>G |
p.Y5516* |
Nonsense |
7/7 |
- |
1 |
14-105405240-G-T |
c.16548C>A |
p.Y5516* |
Nonsense |
7/7 |
- |
1 |
14-105405241-T-C |
c.16547A>G |
p.Y5516C |
Missense |
7/7 |
- |
1 |
14-105405243-C-A |
c.16545G>T |
p.S5515= |
Synonymous |
7/7 |
- |
2 |
14-105405243-C-G |
c.16545G>C |
p.S5515= |
Synonymous |
7/7 |
- |
2 |
14-105405243-C-T |
c.16545G>A |
p.S5515= |
Synonymous |
7/7 |
- |
2 |
14-105405244-G-A |
c.16544C>T |
p.S5515L |
Missense |
7/7 |
- |
3 |
14-105405249-T-A |
c.16539A>T |
p.T5513= |
Synonymous |
7/7 |
- |
2 |
14-105405249-T-C |
c.16539A>G |
p.T5513= |
Synonymous |
7/7 |
- |
2 |
14-105405249-T-G |
c.16539A>C |
p.T5513= |
Synonymous |
7/7 |
- |
2 |
14-105405258-C-T |
c.16530G>A |
p.E5510= |
Synonymous |
7/7 |
- |
2 |
14-105405265-G-A |
c.16523C>T |
p.T5508M |
Missense |
7/7 |
- |
2 |
14-105405265-G-C |
c.16523C>G |
p.T5508R |
Missense |
7/7 |
- |
2 |
14-105405270-G-T |
c.16518C>A |
p.I5506= |
Synonymous |
7/7 |
- |
1 |
14-105405276-T-C |
c.16512A>G |
p.S5504= |
Synonymous |
7/7 |
- |
1 |
14-105405283-C-A |
c.16505G>T |
p.R5502L |
Missense |
7/7 |
- |
2 |
14-105405284-G-A |
c.16504C>T |
p.R5502W |
Missense |
7/7 |
- |
2 |
14-105405287-C-T |
c.16501G>A |
p.V5501M |
Missense |
7/7 |
- |
4 |
14-105405301-A-G |
c.16487T>C |
p.F5496S |
Missense |
7/7 |
- |
2 |
14-105405320-G-A |
c.16468C>T |
p.L5490F |
Missense |
7/7 |
- |
2 |
14-105405320-G-C |
c.16468C>G |
p.L5490V |
Missense |
7/7 |
- |
4 |
14-105405337-G-A |
c.16451C>T |
p.T5484I |
Missense |
7/7 |
- |
1 |
14-105405346-C-T |
c.16442G>A |
p.S5481N |
Missense |
7/7 |
- |
4 |
14-105405348-G-A |
c.16440C>T |
p.H5480= |
Synonymous |
7/7 |
- |
1 |
14-105405357-G-A |
c.16431C>T |
p.V5477= |
Synonymous |
7/7 |
- |
2 |
14-105405363-T-C |
c.16425A>G |
p.Q5475= |
Synonymous |
7/7 |
- |
2 |
14-105405364-T-C |
c.16424A>G |
p.Q5475R |
Missense |
7/7 |
- |
1 |
14-105405366-A-C |
c.16422T>G |
p.S5474R |
Missense |
7/7 |
- |
1 |
14-105405366-A-T |
c.16422T>A |
p.S5474R |
Missense |
7/7 |
- |
1 |
14-105405368-T-G |
c.16420A>C |
p.S5474R |
Missense |
7/7 |
- |
1 |
14-105405377-G-C |
c.16411C>G |
p.Q5471E |
Missense |
7/7 |
- |
2 |
14-105405388-A-C |
c.16400T>G |
p.I5467S |
Missense |
7/7 |
- |
1 |
14-105405394-A-G |
c.16394T>C |
p.V5465A |
Missense |
7/7 |
- |
1 |
14-105405402-C-T |
c.16386G>A |
p.K5462= |
Synonymous |
7/7 |
- |
1 |
14-105405409-A-G |
c.16379T>C |
p.I5460T |
Missense |
7/7 |
- |
1 |
14-105405413-G-A |
c.16375C>T |
p.P5459S |
Missense |
7/7 |
- |
4 |
14-105405414-G-A |
c.16374C>T |
p.P5458= |
Synonymous |
7/7 |
- |
2 |
14-105405416-G-A |
c.16372C>T |
p.P5458S |
Missense |
7/7 |
- |
2 |
14-105405418-G-T |
c.16370C>A |
p.A5457D |
Missense |
7/7 |
- |
1 |
14-105405419-C-A |
c.16369G>T |
p.A5457S |
Missense |
7/7 |
- |
1 |
14-105405423-C-T |
c.16365G>A |
p.L5455= |
Synonymous |
7/7 |
- |
1 |
14-105405431-G-T |
c.16357C>A |
p.L5453M |
Missense |
7/7 |
- |
3 |
14-105405437-G-A |
c.16351C>T |
p.L5451F |
Missense |
7/7 |
- |
2 |
14-105405437-G-C |
c.16351C>G |
p.L5451V |
Missense |
7/7 |
- |
1 |
14-105405451-T-TC |
c.16336dup |
p.E5446Gfs*7 |
Frameshift |
7/7 |
- |
3 |
14-105405484-C-T |
c.16304G>A |
p.S5435N |
Missense |
7/7 |
- |
1 |
14-105405495-G-A |
c.16293C>T |
p.L5431= |
Synonymous |
7/7 |
- |
1 |
14-105405498-C-A |
c.16290G>T |
p.G5430= |
Synonymous |
7/7 |
- |
1 |
14-105405498-C-G |
c.16290G>C |
p.G5430= |
Synonymous |
7/7 |
- |
1 |
14-105405498-C-T |
c.16290G>A |
p.G5430= |
Synonymous |
7/7 |
- |
1 |
14-105405499-C-T |
c.16289G>A |
p.G5430E |
Missense |
7/7 |
- |
1 |
14-105405503-G-T |
c.16285C>A |
p.P5429T |
Missense |
7/7 |
- |
1 |
14-105405504-A-G |
c.16284T>C |
p.S5428= |
Synonymous |
7/7 |
- |
1 |
14-105405505-C-T |
c.16283G>A |
p.S5428N |
Missense |
7/7 |
- |
1 |
14-105405518-G-A |
c.16270C>T |
p.L5424F |
Missense |
7/7 |
- |
1 |
14-105405522-T-A |
c.16266A>T |
p.T5422= |
Synonymous |
7/7 |
- |
1 |
14-105405522-T-C |
c.16266A>G |
p.T5422= |
Synonymous |
7/7 |
- |
1 |
14-105405522-T-G |
c.16266A>C |
p.T5422= |
Synonymous |
7/7 |
- |
1 |
14-105405535-G-A |
c.16253C>T |
p.A5418V |
Missense |
7/7 |
- |
1 |
14-105405537-C-A |
c.16251G>T |
p.E5417D |
Missense |
7/7 |
- |
2 |
14-105405537-C-G |
c.16251G>C |
p.E5417D |
Missense |
7/7 |
- |
1 |
14-105405539-C-G |
c.16249G>C |
p.E5417Q |
Missense |
7/7 |
- |
1 |
14-105405545-A-C |
c.16243T>G |
p.C5415G |
Missense |
7/7 |
- |
1 |
14-105405562-G-T |
c.16226C>A |
p.T5409N |
Missense |
7/7 |
- |
1 |
14-105405563-TG-T |
c.16224del |
p.T5409Lfs*2 |
Frameshift |
7/7 |
- |
1 |
14-105405567-G-A |
c.16221C>T |
p.I5407= |
Synonymous |
7/7 |
- |
2 |
14-105405569-T-G |
c.16219A>C |
p.I5407L |
Missense |
7/7 |
- |
1 |
14-105405570-G-A |
c.16218C>T |
p.F5406= |
Synonymous |
7/7 |
- |
1 |
14-105405570-G-C |
c.16218C>G |
p.F5406L |
Missense |
7/7 |
- |
1 |
14-105405570-G-T |
c.16218C>A |
p.F5406L |
Missense |
7/7 |
- |
1 |
14-105405572-A-C |
c.16216T>G |
p.F5406V |
Missense |
7/7 |
- |
3 |
14-105405572-A-G |
c.16216T>C |
p.F5406L |
Missense |
7/7 |
- |
1 |
14-105405586-G-A |
c.16202C>T |
p.S5401L |
Missense |
7/7 |
- |
1 |
14-105405597-A-C |
c.16191T>G |
p.P5397= |
Synonymous |
7/7 |
- |
1 |
14-105405597-A-G |
c.16191T>C |
p.P5397= |
Synonymous |
7/7 |
- |
1 |
14-105405597-A-T |
c.16191T>A |
p.P5397= |
Synonymous |
7/7 |
- |
1 |
14-105405599-G-A |
c.16189C>T |
p.P5397S |
Missense |
7/7 |
- |
8 |
14-105405599-G-C |
c.16189C>G |
p.P5397A |
Missense |
7/7 |
- |
42 |
14-105405599-G-T |
c.16189C>A |
p.P5397T |
Missense |
7/7 |
- |
8 |
14-105405603-G-A |
c.16185C>T |
p.S5395= |
Synonymous |
7/7 |
- |
1 |
14-105405603-G-C |
c.16185C>G |
p.S5395= |
Synonymous |
7/7 |
- |
1 |
14-105405603-G-T |
c.16185C>A |
p.S5395= |
Synonymous |
7/7 |
- |
1 |
14-105405610-C-A |
c.16178G>T |
p.R5393M |
Missense |
7/7 |
- |
4 |
14-105405613-G-T |
c.16175C>A |
p.P5392Q |
Missense |
7/7 |
- |
1 |
14-105405648-A-G |
c.16140T>C |
p.S5380= |
Synonymous |
7/7 |
- |
1 |
14-105405653-C-A |
c.16135G>T |
p.D5379Y |
Missense |
7/7 |
- |
2 |
14-105405658-C-A |
c.16130G>T |
p.W5377L |
Missense |
7/7 |
- |
1 |
14-105405695-G-A |
c.16093C>T |
p.P5365S |
Missense |
7/7 |
- |
1 |
14-105405698-T-A |
c.16090A>T |
p.M5364L |
Missense |
7/7 |
- |
2 |
14-105405698-T-G |
c.16090A>C |
p.M5364L |
Missense |
7/7 |
- |
1 |
14-105405700-T-C |
c.16088A>G |
p.D5363G |
Missense |
7/7 |
- |
4 |
14-105405705-A-T |
c.16083T>A |
p.S5361R |
Missense |
7/7 |
- |
1 |
14-105405706-C-T |
c.16082G>A |
p.S5361N |
Missense |
7/7 |
- |
1 |
14-105405717-C-T |
c.16071G>A |
p.L5357= |
Synonymous |
7/7 |
- |
1 |
14-105405719-A-G |
c.16069T>C |
p.L5357= |
Synonymous |
7/7 |
- |
1 |
14-105405734-C-A |
c.16054G>T |
p.E5352* |
Nonsense |
7/7 |
- |
1 |
14-105405735-A-C |
c.16053T>G |
p.P5351= |
Synonymous |
7/7 |
- |
2 |
14-105405735-A-G |
c.16053T>C |
p.P5351= |
Synonymous |
7/7 |
- |
2 |
14-105405735-A-T |
c.16053T>A |
p.P5351= |
Synonymous |
7/7 |
- |
2 |
14-105405742-G-A |
c.16046C>T |
p.S5349F |
Missense |
7/7 |
- |
1 |
14-105405745-G-A |
c.16043C>T |
p.S5348F |
Missense |
7/7 |
- |
2 |
14-105405753-C-G |
c.16035G>C |
p.E5345D |
Missense |
7/7 |
- |
1 |
14-105405768-C-A |
c.16020G>T |
p.M5340I |
Missense |
7/7 |
- |
1 |
14-105405768-C-G |
c.16020G>C |
p.M5340I |
Missense |
7/7 |
- |
1 |
14-105405768-C-T |
c.16020G>A |
p.M5340I |
Missense |
7/7 |
- |
1 |
14-105405778-A-G |
c.16010T>C |
p.L5337P |
Missense |
7/7 |
- |
1 |
14-105405782-C-A |
c.16006G>T |
p.D5336Y |
Missense |
7/7 |
- |
1 |
14-105405788-C-A |
c.16000G>T |
p.G5334* |
Nonsense |
7/7 |
- |
1 |
14-105405796-G-A |
c.15992C>T |
p.S5331F |
Missense |
7/7 |
- |
1 |
14-105405812-C-T |
c.15976G>A |
p.D5326N |
Missense |
7/7 |
- |
1 |
14-105405818-C-A |
c.15970G>T |
p.E5324* |
Nonsense |
7/7 |
- |
1 |
14-105405820-C-G |
c.15968G>C |
p.G5323A |
Missense |
7/7 |
- |
1 |
14-105405822-T-A |
c.15966A>T |
p.P5322= |
Synonymous |
7/7 |
- |
1 |
14-105405822-T-C |
c.15966A>G |
p.P5322= |
Synonymous |
7/7 |
- |
1 |
14-105405822-T-G |
c.15966A>C |
p.P5322= |
Synonymous |
7/7 |
- |
1 |
14-105405830-C-T |
c.15958G>A |
p.V5320I |
Missense |
7/7 |
- |
1 |
14-105405844-A-G |
c.15944T>C |
p.L5315P |
Missense |
7/7 |
- |
1 |
14-105405846-C-T |
c.15942G>A |
p.R5314= |
Synonymous |
7/7 |
- |
2 |
14-105405849-C-T |
c.15939G>A |
p.M5313I |
Missense |
7/7 |
- |
2 |
14-105405859-A-G |
c.15929T>C |
p.M5310T |
Missense |
7/7 |
- |
1 |
14-105405860-T-C |
c.15928A>G |
p.M5310V |
Missense |
7/7 |
- |
1 |
14-105405863-GA-G |
c.15924del |
p.Q5309Rfs*5 |
Frameshift |
7/7 |
- |
1 |
14-105405869-G-A |
c.15919C>T |
p.P5307S |
Missense |
7/7 |
- |
1 |
14-105405870-G-A |
c.15918C>T |
p.L5306= |
Synonymous |
7/7 |
- |
1 |
14-105405884-A-C |
c.15904T>G |
p.S5302A |
Missense |
7/7 |
- |
1 |
14-105405897-G-A |
c.15891C>T |
p.V5297= |
Synonymous |
7/7 |
- |
1 |
14-105405897-G-C |
c.15891C>G |
p.V5297= |
Synonymous |
7/7 |
- |
1 |
14-105405897-G-T |
c.15891C>A |
p.V5297= |
Synonymous |
7/7 |
- |
1 |
14-105405898-A-G |
c.15890T>C |
p.V5297A |
Missense |
7/7 |
- |
1 |
14-105405914-G-C |
c.15874C>G |
p.L5292V |
Missense |
7/7 |
- |
3 |
14-105405917-C-T |
c.15871G>A |
p.E5291K |
Missense |
7/7 |
- |
2 |
14-105405939-G-A |
c.15849C>T |
p.S5283= |
Synonymous |
7/7 |
- |
1 |
14-105405939-G-C |
c.15849C>G |
p.S5283= |
Synonymous |
7/7 |
- |
1 |
14-105405939-G-T |
c.15849C>A |
p.S5283= |
Synonymous |
7/7 |
- |
1 |
14-105405942-G-A |
c.15846C>T |
p.L5282= |
Synonymous |
7/7 |
- |
18 |
14-105405942-G-C |
c.15846C>G |
p.L5282= |
Synonymous |
7/7 |
- |
2 |
14-105405942-G-T |
c.15846C>A |
p.L5282= |
Synonymous |
7/7 |
- |
2 |
14-105405947-G-A |
c.15841C>T |
p.H5281Y |
Missense |
7/7 |
- |
2 |
14-105405948-C-A |
c.15840G>T |
p.L5280= |
Synonymous |
7/7 |
- |
2 |
14-105405948-C-G |
c.15840G>C |
p.L5280= |
Synonymous |
7/7 |
- |
2 |
14-105405948-C-T |
c.15840G>A |
p.L5280= |
Synonymous |
7/7 |
- |
3 |
14-105405950-G-A |
c.15838C>T |
p.L5280= |
Synonymous |
7/7 |
- |
2 |
14-105405974-C-T |
c.15814G>A |
p.D5272N |
Missense |
7/7 |
- |
1 |
14-105405979-C-T |
c.15809G>A |
p.R5270K |
Missense |
7/7 |
- |
1 |
14-105405983-G-C |
c.15805C>G |
p.L5269V |
Missense |
7/7 |
- |
1 |
14-105405983-G-T |
c.15805C>A |
p.L5269I |
Missense |
7/7 |
- |
1 |
14-105405986-T-C |
c.15802A>G |
p.I5268V |
Missense |
7/7 |
- |
2 |
14-105405989-C-T |
c.15799G>A |
p.D5267N |
Missense |
7/7 |
- |
1 |
14-105405994-G-A |
c.15794C>T |
p.S5265F |
Missense |
7/7 |
- |
2 |
14-105405994-G-T |
c.15794C>A |
p.S5265Y |
Missense |
7/7 |
- |
1 |
14-105406001-T-C |
c.15787A>G |
p.K5263E |
Missense |
7/7 |
- |
1 |
14-105406002-G-C |
c.15786C>G |
p.S5262R |
Missense |
7/7 |
- |
1 |
14-105406002-G-T |
c.15786C>A |
p.S5262R |
Missense |
7/7 |
- |
2 |
14-105406004-T-G |
c.15784A>C |
p.S5262R |
Missense |
7/7 |
- |
1 |
14-105406007-C-G |
c.15781G>C |
p.E5261Q |
Missense |
7/7 |
- |
1 |
14-105406016-T-C |
c.15772A>G |
p.T5258A |
Missense |
7/7 |
- |
1 |
14-105406018-A-C |
c.15770T>G |
p.V5257G |
Missense |
7/7 |
- |
2 |
14-105406022-C-T |
c.15766G>A |
p.E5256K |
Missense |
7/7 |
- |
1 |
14-105406024-G-C |
c.15764C>G |
p.A5255G |
Missense |
7/7 |
- |
1 |
14-105406028-C-T |
c.15760G>A |
p.D5254N |
Missense |
7/7 |
- |
1 |
14-105406026-ATCTGCC-A |
c.15756_15761del |
p.E5252_A5253del |
InFrameDeletion |
7/7 |
- |
1 |
14-105406034-C-T |
c.15754G>A |
p.E5252K |
Missense |
7/7 |
- |
1 |
14-105406036-G-C |
c.15752C>G |
p.P5251R |
Missense |
7/7 |
- |
1 |
14-105406037-G-A |
c.15751C>T |
p.P5251S |
Missense |
7/7 |
- |
4 |
14-105406038-G-A |
c.15750C>T |
p.L5250= |
Synonymous |
7/7 |
- |
1 |
14-105406038-G-C |
c.15750C>G |
p.L5250= |
Synonymous |
7/7 |
- |
1 |
14-105406038-G-T |
c.15750C>A |
p.L5250= |
Synonymous |
7/7 |
- |
1 |
14-105406044-T-C |
c.15744A>G |
p.L5248= |
Synonymous |
7/7 |
- |
1 |
14-105406046-G-T |
c.15742C>A |
p.L5248I |
Missense |
7/7 |
- |
1 |
14-105406048-G-A |
c.15740C>T |
p.S5247F |
Missense |
7/7 |
- |
2 |
14-105406069-G-A |
c.15719C>T |
p.S5240L |
Missense |
7/7 |
- |
1 |
14-105406075-G-T |
c.15713C>A |
p.S5238Y |
Missense |
7/7 |
- |
1 |
14-105406083-G-A |
c.15705C>T |
p.F5235= |
Synonymous |
7/7 |
- |
1 |
14-105406085-A-T |
c.15703T>A |
p.F5235I |
Missense |
7/7 |
- |
1 |
14-105406086-C-T |
c.15702G>A |
p.E5234= |
Synonymous |
7/7 |
- |
1 |
14-105406088-C-A |
c.15700G>T |
p.E5234* |
Nonsense |
7/7 |
- |
2 |
14-105406088-C-G |
c.15700G>C |
p.E5234Q |
Missense |
7/7 |
- |
1 |
14-105406088-C-T |
c.15700G>A |
p.E5234K |
Missense |
7/7 |
- |
2 |
14-105406105-TGC-T |
c.15682_15683del |
p.A5228Sfs*3 |
Frameshift |
7/7 |
- |
1 |
14-105406109-C-T |
c.15679G>A |
p.E5227K |
Missense |
7/7 |
- |
2 |
14-105406110-A-C |
c.15678T>G |
p.G5226= |
Synonymous |
7/7 |
- |
1 |
14-105406110-ACC-TCA |
c.15676_15678delinsTGA |
p.G5226* |
Nonsense |
7/7 |
- |
1 |
14-105406114-C-G |
c.15674G>C |
p.G5225A |
Missense |
7/7 |
- |
1 |
14-105406117-G-GTGA |
c.15670_15671insTCA |
p.A5223_T5224insI |
InFrameInsertion |
7/7 |
- |
1 |
14-105406125-C-A |
c.15663G>T |
p.P5221= |
Synonymous |
7/7 |
- |
2 |
14-105406125-C-G |
c.15663G>C |
p.P5221= |
Synonymous |
7/7 |
- |
2 |
14-105406125-C-T |
c.15663G>A |
p.P5221= |
Synonymous |
7/7 |
- |
2 |
14-105406133-G-A |
c.15655C>T |
p.Q5219* |
Nonsense |
7/7 |
- |
2 |
14-105406145-C-T |
c.15643G>A |
p.V5215M |
Missense |
7/7 |
- |
1 |
14-105406149-C-T |
c.15639G>A |
p.L5213= |
Synonymous |
7/7 |
- |
1 |
14-105406155-T-C |
c.15633A>G |
p.G5211= |
Synonymous |
7/7 |
- |
1 |
14-105406157-C-A |
c.15631G>T |
p.G5211* |
Nonsense |
7/7 |
- |
2 |
14-105406163-C-T |
c.15625G>A |
p.G5209R |
Missense |
7/7 |
- |
3 |
14-105406164-G-A |
c.15624C>T |
p.G5208= |
Synonymous |
7/7 |
- |
1 |
14-105406164-G-C |
c.15624C>G |
p.G5208= |
Synonymous |
7/7 |
- |
1 |
14-105406164-G-T |
c.15624C>A |
p.G5208= |
Synonymous |
7/7 |
- |
1 |
14-105406168-C-G |
c.15620G>C |
p.R5207T |
Missense |
7/7 |
- |
1 |
14-105406168-C-T |
c.15620G>A |
p.R5207K |
Missense |
7/7 |
- |
1 |
14-105406180-G-A |
c.15608C>T |
p.S5203F |
Missense |
7/7 |
- |
4 |
14-105406187-T-C |
c.15601A>G |
p.R5201G |
Missense |
7/7 |
- |
2 |
14-105406197-C-A |
c.15591G>T |
p.M5197I |
Missense |
7/7 |
- |
1 |
14-105406197-C-G |
c.15591G>C |
p.M5197I |
Missense |
7/7 |
- |
1 |
14-105406197-C-T |
c.15591G>A |
p.M5197I |
Missense |
7/7 |
- |
1 |
14-105406201-C-T |
c.15587G>A |
p.R5196H |
Missense |
7/7 |
- |
2 |
14-105406202-G-A |
c.15586C>T |
p.R5196C |
Missense |
7/7 |
- |
4 |
14-105406221-C-T |
c.15567G>A |
p.W5189* |
Nonsense |
7/7 |
- |
1 |
14-105406222-C-T |
c.15566G>A |
p.W5189* |
Nonsense |
7/7 |
- |
1 |
14-105406224-G-C |
c.15564C>G |
p.S5188R |
Missense |
7/7 |
- |
1 |
14-105406224-G-T |
c.15564C>A |
p.S5188R |
Missense |
7/7 |
- |
1 |
14-105406226-T-G |
c.15562A>C |
p.S5188R |
Missense |
7/7 |
- |
1 |
14-105406225-C-G |
c.15563G>C |
p.S5188T |
Missense |
7/7 |
- |
1 |
14-105406233-C-T |
c.15555G>A |
p.S5185= |
Synonymous |
7/7 |
- |
1 |
14-105406235-A-C |
c.15553T>G |
p.S5185A |
Missense |
7/7 |
- |
6 |
14-105406236-G-A |
c.15552C>T |
p.Y5184= |
Synonymous |
7/7 |
- |
1 |
14-105406237-T-C |
c.15551A>G |
p.Y5184C |
Missense |
7/7 |
- |
1 |
14-105406238-A-C |
c.15550T>G |
p.Y5184D |
Missense |
7/7 |
- |
37 |
14-105406243-G-A |
c.15545C>T |
p.T5182I |
Missense |
7/7 |
- |
1 |
14-105406263-G-A |
c.15525C>T |
p.S5175= |
Synonymous |
7/7 |
- |
1 |
14-105406274-T-G |
c.15514A>C |
p.T5172P |
Missense |
7/7 |
- |
1 |
14-105406276-A-C |
c.15512T>G |
p.L5171R |
Missense |
7/7 |
- |
1 |
14-105406285-G-A |
c.15503C>T |
p.A5168V |
Missense |
7/7 |
- |
1 |
14-105406289-C-T |
c.15499G>A |
p.D5167N |
Missense |
7/7 |
- |
1 |
14-105406295-T-TA |
c.15492_15493insT |
p.K5165* |
Nonsense |
7/7 |
- |
1 |
14-105406299-A-G |
c.15489T>C |
p.C5163= |
Synonymous |
7/7 |
- |
1 |
14-105406302-G-A |
c.15486C>T |
p.S5162= |
Synonymous |
7/7 |
- |
1 |
14-105406305-T-A |
c.15483A>T |
p.P5161= |
Synonymous |
7/7 |
- |
3 |
14-105406312-A-T |
c.15476T>A |
p.L5159H |
Missense |
7/7 |
- |
1 |
14-105406317-A-G |
c.15471T>C |
p.D5157= |
Synonymous |
7/7 |
- |
1 |
14-105406319-C-A |
c.15469G>T |
p.D5157Y |
Missense |
7/7 |
- |
1 |
14-105406332-G-A |
c.15456C>T |
p.A5152= |
Synonymous |
7/7 |
- |
1 |
14-105406339-C-G |
c.15449G>C |
p.G5150A |
Missense |
7/7 |
- |
1 |
14-105406341-C-T |
c.15447G>A |
p.E5149= |
Synonymous |
7/7 |
- |
1 |
14-105406342-T-TC |
c.15445dup |
p.E5149Gfs*8 |
Frameshift |
7/7 |
- |
2 |
14-105406349-A-G |
c.15439T>C |
p.C5147R |
Missense |
7/7 |
- |
1 |
14-105406352-G-A |
c.15436C>T |
p.P5146S |
Missense |
7/7 |
- |
1 |
14-105406355-G-A |
c.15433C>T |
p.Q5145* |
Nonsense |
7/7 |
- |
1 |
14-105406371-C-A |
c.15417G>T |
p.G5139= |
Synonymous |
7/7 |
- |
1 |
14-105406371-C-G |
c.15417G>C |
p.G5139= |
Synonymous |
7/7 |
- |
1 |
14-105406371-C-T |
c.15417G>A |
p.G5139= |
Synonymous |
7/7 |
- |
1 |
14-105406372-C-T |
c.15416G>A |
p.G5139E |
Missense |
7/7 |
- |
27 |
14-105406373-C-G |
c.15415G>C |
p.G5139R |
Missense |
7/7 |
- |
2 |
14-105406373-C-T |
c.15415G>A |
p.G5139R |
Missense |
7/7 |
- |
6 |
14-105406377-C-A |
c.15411G>T |
p.G5137= |
Synonymous |
7/7 |
- |
1 |
14-105406377-C-G |
c.15411G>C |
p.G5137= |
Synonymous |
7/7 |
- |
1 |
14-105406377-C-T |
c.15411G>A |
p.G5137= |
Synonymous |
7/7 |
- |
1 |
14-105406381-CA-GT |
c.15406_15407delinsAC |
p.C5136T |
Missense |
7/7 |
- |
1 |
14-105406384-C-G |
c.15404G>C |
p.G5135A |
Missense |
7/7 |
- |
1 |
14-105406398-T-C |
c.15390A>G |
p.E5130= |
Synonymous |
7/7 |
- |
1 |
14-105406401-G-A |
c.15387C>T |
p.T5129= |
Synonymous |
7/7 |
- |
2 |
14-105406401-G-C |
c.15387C>G |
p.T5129= |
Synonymous |
7/7 |
- |
2 |
14-105406401-G-T |
c.15387C>A |
p.T5129= |
Synonymous |
7/7 |
- |
2 |
14-105406402-G-A |
c.15386C>T |
p.T5129I |
Missense |
7/7 |
- |
2 |
14-105406415-G-A |
c.15373C>T |
p.H5125Y |
Missense |
7/7 |
- |
1 |
14-105406415-G-T |
c.15373C>A |
p.H5125N |
Missense |
7/7 |
- |
1 |
14-105406426-G-T |
c.15362C>A |
p.P5121H |
Missense |
7/7 |
- |
1 |
14-105406431-G-A |
c.15357C>T |
p.D5119= |
Synonymous |
7/7 |
- |
1 |
14-105406433-C-A |
c.15355G>T |
p.D5119Y |
Missense |
7/7 |
- |
1 |
14-105406444-T-C |
c.15344A>G |
p.Q5115R |
Missense |
7/7 |
- |
1 |
14-105406447-C-A |
c.15341G>T |
p.S5114I |
Missense |
7/7 |
- |
1 |
14-105406478-G-T |
c.15310C>A |
p.L5104I |
Missense |
7/7 |
- |
1 |
14-105406484-GT-G |
c.15303del |
p.K5101Nfs*13 |
Frameshift |
7/7 |
- |
1 |
14-105406487-T-TA |
c.15300_15301insT |
p.K5101* |
Nonsense |
7/7 |
- |
1 |
14-105406499-A-G |
c.15289T>C |
p.L5097= |
Synonymous |
7/7 |
- |
1 |
14-105406500-A-G |
c.15288T>C |
p.S5096= |
Synonymous |
7/7 |
- |
1 |
14-105406505-G-A |
c.15283C>T |
p.P5095S |
Missense |
7/7 |
- |
1 |
14-105406523-G-A |
c.15265C>T |
p.R5089W |
Missense |
7/7 |
- |
1 |
14-105406529-G-A |
c.15259C>T |
p.L5087F |
Missense |
7/7 |
- |
6 |
14-105406530-G-A |
c.15258C>T |
p.N5086= |
Synonymous |
7/7 |
- |
1 |
14-105406541-C-A |
c.15247G>T |
p.E5083* |
Nonsense |
7/7 |
- |
2 |
14-105406558-G-T |
c.15230C>A |
p.A5077E |
Missense |
7/7 |
- |
1 |
14-105406574-C-T |
c.15214G>A |
p.G5072R |
Missense |
7/7 |
- |
1 |
14-105406576-C-T |
c.15212G>A |
p.G5071E |
Missense |
7/7 |
- |
1 |
14-105406582-C-G |
c.15206G>C |
p.G5069A |
Missense |
7/7 |
- |
1 |
14-105406582-C-T |
c.15206G>A |
p.G5069D |
Missense |
7/7 |
- |
3 |
14-105406583-C-G |
c.15205G>C |
p.G5069R |
Missense |
7/7 |
- |
1 |
14-105406585-C-G |
c.15203G>C |
p.G5068A |
Missense |
7/7 |
- |
1 |
14-105406586-C-T |
c.15202G>A |
p.G5068S |
Missense |
7/7 |
- |
2 |
14-105406587-G-A |
c.15201C>T |
p.D5067= |
Synonymous |
7/7 |
- |
4 |
14-105406587-G-C |
c.15201C>G |
p.D5067E |
Missense |
7/7 |
- |
1 |
14-105406587-G-T |
c.15201C>A |
p.D5067E |
Missense |
7/7 |
- |
1 |
14-105406594-C-G |
c.15194G>C |
p.S5065T |
Missense |
7/7 |
- |
1 |
14-105406604-C-T |
c.15184G>A |
p.E5062K |
Missense |
7/7 |
- |
1 |
14-105406614-A-T |
c.15174T>A |
p.F5058L |
Missense |
7/7 |
- |
1 |
14-105406617-G-C |
c.15171C>G |
p.S5057R |
Missense |
7/7 |
- |
1 |
14-105406617-G-T |
c.15171C>A |
p.S5057R |
Missense |
7/7 |
- |
1 |
14-105406619-T-G |
c.15169A>C |
p.S5057R |
Missense |
7/7 |
- |
1 |
14-105406624-C-G |
c.15164G>C |
p.G5055A |
Missense |
7/7 |
- |
1 |
14-105406620-AC-A |
c.15167del |
p.G5056Vfs*30 |
Frameshift |
7/7 |
- |
5 |
14-105406625-C-A |
c.15163G>T |
p.G5055W |
Missense |
7/7 |
- |
5 |
14-105406647-A-C |
c.15141T>G |
p.P5047= |
Synonymous |
7/7 |
- |
1 |
14-105406648-G-A |
c.15140C>T |
p.P5047L |
Missense |
7/7 |
- |
1 |
14-105406652-C-G |
c.15136G>C |
p.D5046H |
Missense |
7/7 |
- |
1 |
14-105406664-G-C |
c.15124C>G |
p.Q5042E |
Missense |
7/7 |
- |
1 |
14-105406672-C-T |
c.15116G>A |
p.S5039N |
Missense |
7/7 |
- |
1 |
14-105406676-C-T |
c.15112G>A |
p.V5038I |
Missense |
7/7 |
- |
1 |
14-105406677-C-A |
c.15111G>T |
p.G5037= |
Synonymous |
7/7 |
- |
1 |
14-105406677-C-T |
c.15111G>A |
p.G5037= |
Synonymous |
7/7 |
- |
1 |
14-105406680-A-G |
c.15108T>C |
p.S5036= |
Synonymous |
7/7 |
- |
1 |
14-105406681-C-T |
c.15107G>A |
p.S5036N |
Missense |
7/7 |
- |
1 |
14-105406683-C-A |
c.15105G>T |
p.K5035N |
Missense |
7/7 |
- |
3 |
14-105406683-C-G |
c.15105G>C |
p.K5035N |
Missense |
7/7 |
- |
2 |
14-105406684-T-C |
c.15104A>G |
p.K5035R |
Missense |
7/7 |
- |
1 |
14-105406691-C-A |
c.15097G>T |
p.A5033S |
Missense |
7/7 |
- |
1 |
14-105406696-AT-TA |
c.15091_15092delinsTA |
p.M5031* |
Nonsense |
7/7 |
- |
1 |
14-105406702-G-T |
c.15086C>A |
p.P5029H |
Missense |
7/7 |
- |
1 |
14-105406700-TG-T |
c.15087del |
p.M5031* |
Frameshift |
7/7 |
- |
1 |
14-105406708-G-A |
c.15080C>T |
p.A5027V |
Missense |
7/7 |
- |
2 |
14-105406727-A-G |
c.15061T>C |
p.F5021L |
Missense |
7/7 |
- |
1 |
14-105406732-G-A |
c.15056C>T |
p.P5019L |
Missense |
7/7 |
- |
1 |
14-105406733-G-T |
c.15055C>A |
p.P5019T |
Missense |
7/7 |
- |
1 |
14-105406769-G-A |
c.15019C>T |
p.P5007S |
Missense |
7/7 |
- |
3 |
14-105406785-G-A |
c.15003C>T |
p.I5001= |
Synonymous |
7/7 |
- |
1 |
14-105406785-G-T |
c.15003C>A |
p.I5001= |
Synonymous |
7/7 |
- |
1 |
14-105406788-G-A |
c.15000C>T |
p.A5000= |
Synonymous |
7/7 |
- |
1 |
14-105406790-GC-G |
c.14998del |
p.A5000Pfs*32 |
Frameshift |
7/7 |
- |
1 |
14-105406792-AG-A |
c.14996del |
p.S4999Lfs*33 |
Frameshift |
7/7 |
- |
2 |
14-105406793-A-G |
c.14995T>C |
p.S4999P |
Missense |
7/7 |
- |
1 |
14-105406797-C-A |
c.14991G>T |
p.P4997= |
Synonymous |
7/7 |
- |
4 |
14-105406797-C-G |
c.14991G>C |
p.P4997= |
Synonymous |
7/7 |
- |
3 |
14-105406797-C-T |
c.14991G>A |
p.P4997= |
Synonymous |
7/7 |
- |
4 |
14-105406798-G-A |
c.14990C>T |
p.P4997L |
Missense |
7/7 |
- |
2 |
14-105406810-T-G |
c.14978A>C |
p.D4993A |
Missense |
7/7 |
- |
1 |
14-105406830-G-A |
c.14958C>T |
p.L4986= |
Synonymous |
7/7 |
- |
2 |
14-105406830-G-C |
c.14958C>G |
p.L4986= |
Synonymous |
7/7 |
- |
3 |
14-105406830-G-T |
c.14958C>A |
p.L4986= |
Synonymous |
7/7 |
- |
2 |
14-105406831-A-C |
c.14957T>G |
p.L4986R |
Missense |
7/7 |
- |
1 |
14-105406837-G-C |
c.14951C>G |
p.S4984* |
Nonsense |
7/7 |
- |
1 |
14-105406849-CT-AG |
c.14938_14939inv |
p.S4980L |
Missense |
7/7 |
- |
1 |
14-105406860-G-A |
c.14928C>T |
p.D4976= |
Synonymous |
7/7 |
- |
2 |
14-105406882-T-C |
c.14906A>G |
p.K4969R |
Missense |
7/7 |
- |
1 |
14-105406884-C-T |
c.14904G>A |
p.K4968= |
Synonymous |
7/7 |
- |
2 |
14-105406887-C-T |
c.14901G>A |
p.P4967= |
Synonymous |
7/7 |
- |
1 |
14-105406888-G-A |
c.14900C>T |
p.P4967L |
Missense |
7/7 |
- |
3 |
14-105406899-A-C |
c.14889T>G |
p.F4963L |
Missense |
7/7 |
- |
1 |
14-105406899-A-T |
c.14889T>A |
p.F4963L |
Missense |
7/7 |
- |
1 |
14-105406901-A-G |
c.14887T>C |
p.F4963L |
Missense |
7/7 |
- |
1 |
14-105406903-G-A |
c.14885C>T |
p.S4962L |
Missense |
7/7 |
- |
1 |
14-105406928-T-C |
c.14860A>G |
p.K4954E |
Missense |
7/7 |
- |
1 |
14-105406929-C-A |
c.14859G>T |
p.L4953F |
Missense |
7/7 |
- |
1 |
14-105406929-C-G |
c.14859G>C |
p.L4953F |
Missense |
7/7 |
- |
1 |
14-105406934-G-A |
c.14854C>T |
p.P4952S |
Missense |
7/7 |
- |
5 |
14-105406944-C-T |
c.14844G>A |
p.G4948= |
Synonymous |
7/7 |
- |
1 |
14-105406949-C-T |
c.14839G>A |
p.E4947K |
Missense |
7/7 |
- |
1 |
14-105406952-G-T |
c.14836C>A |
p.H4946N |
Missense |
7/7 |
- |
1 |
14-105406953-G-T |
c.14835C>A |
p.D4945E |
Missense |
7/7 |
- |
2 |
14-105406956-A-C |
c.14832T>G |
p.A4944= |
Synonymous |
7/7 |
- |
1 |
14-105406956-A-G |
c.14832T>C |
p.A4944= |
Synonymous |
7/7 |
- |
1 |
14-105406956-A-T |
c.14832T>A |
p.A4944= |
Synonymous |
7/7 |
- |
1 |
14-105406957-AGCATCTTCAGAAGGGGCT-A |
c.14814_14831del |
p.E4938_A4944delinsD |
MultiAAMissense |
7/7 |
- |
1 |
14-105406959-A-G |
c.14829T>C |
p.D4943= |
Synonymous |
7/7 |
- |
3 |
14-105406970-G-A |
c.14818C>T |
p.P4940S |
Missense |
7/7 |
- |
2 |
14-105406976-C-T |
c.14812G>A |
p.E4938K |
Missense |
7/7 |
- |
1 |
14-105406981-G-A |
c.14807C>T |
p.P4936L |
Missense |
7/7 |
- |
4 |
14-105407001-C-A |
c.14787G>T |
p.L4929F |
Missense |
7/7 |
- |
3 |
14-105407001-C-G |
c.14787G>C |
p.L4929F |
Missense |
7/7 |
- |
1 |
14-105407004-G-A |
c.14784C>T |
p.S4928= |
Synonymous |
7/7 |
- |
2 |
14-105407004-G-C |
c.14784C>G |
p.S4928= |
Synonymous |
7/7 |
- |
1 |
14-105407004-G-T |
c.14784C>A |
p.S4928= |
Synonymous |
7/7 |
- |
1 |
14-105407005-G-A |
c.14783C>T |
p.S4928F |
Missense |
7/7 |
- |
2 |
14-105407009-C-T |
c.14779G>A |
p.A4927T |
Missense |
7/7 |
- |
3 |
14-105407010-C-A |
c.14778G>T |
p.V4926= |
Synonymous |
7/7 |
- |
3 |
14-105407021-C-G |
c.14767G>C |
p.E4923Q |
Missense |
7/7 |
- |
1 |
14-105407024-G-A |
c.14764C>T |
p.P4922S |
Missense |
7/7 |
- |
2 |
14-105407027-C-T |
c.14761G>A |
p.G4921S |
Missense |
7/7 |
- |
1 |
14-105407028-C-G |
c.14760G>C |
p.Q4920H |
Missense |
7/7 |
- |
1 |
14-105407029-T-C |
c.14759A>G |
p.Q4920R |
Missense |
7/7 |
- |
1 |
14-105407031-A-C |
c.14757T>G |
p.S4919= |
Synonymous |
7/7 |
- |
1 |
14-105407031-A-G |
c.14757T>C |
p.S4919= |
Synonymous |
7/7 |
- |
20 |
14-105407031-A-T |
c.14757T>A |
p.S4919= |
Synonymous |
7/7 |
- |
14 |
14-105407044-C-G |
c.14744G>C |
p.G4915A |
Missense |
7/7 |
- |
1 |
14-105407050-G-A |
c.14738C>T |
p.S4913F |
Missense |
7/7 |
- |
1 |
14-105407055-C-T |
c.14733G>A |
p.L4911= |
Synonymous |
7/7 |
- |
1 |
14-105407065-C-T |
c.14723G>A |
p.S4908N |
Missense |
7/7 |
- |
3 |
14-105407070-C-T |
c.14718G>A |
p.L4906= |
Synonymous |
7/7 |
- |
1 |
14-105407072-A-G |
c.14716T>C |
p.L4906= |
Synonymous |
7/7 |
- |
1 |
14-105407075-G-A |
c.14713C>T |
p.P4905S |
Missense |
7/7 |
- |
1 |
14-105407076-G-T |
c.14712C>A |
p.C4904* |
Nonsense |
7/7 |
- |
3 |
14-105407088-T-C |
c.14700A>G |
p.E4900= |
Synonymous |
7/7 |
- |
2 |
14-105407092-C-G |
c.14696G>C |
p.G4899A |
Missense |
7/7 |
- |
1 |
14-105407093-C-G |
c.14695G>C |
p.G4899R |
Missense |
7/7 |
- |
1 |
14-105407096-G-A |
c.14692C>T |
p.P4898S |
Missense |
7/7 |
- |
1 |
14-105407097-G-A |
c.14691C>T |
p.S4897= |
Synonymous |
7/7 |
- |
2 |
14-105407097-G-C |
c.14691C>G |
p.S4897R |
Missense |
7/7 |
- |
2 |
14-105407097-G-T |
c.14691C>A |
p.S4897R |
Missense |
7/7 |
- |
2 |
14-105407099-T-G |
c.14689A>C |
p.S4897R |
Missense |
7/7 |
- |
2 |
14-105407104-G-A |
c.14684C>T |
p.P4895L |
Missense |
7/7 |
- |
2 |
14-105407107-G-T |
c.14681C>A |
p.S4894Y |
Missense |
7/7 |
- |
1 |
14-105407109-C-A |
c.14679G>T |
p.M4893I |
Missense |
7/7 |
- |
2 |
14-105407109-C-G |
c.14679G>C |
p.M4893I |
Missense |
7/7 |
- |
2 |
14-105407109-C-T |
c.14679G>A |
p.M4893I |
Missense |
7/7 |
- |
2 |
14-105407112-G-A |
c.14676C>T |
p.V4892= |
Synonymous |
7/7 |
- |
4 |
14-105407112-G-C |
c.14676C>G |
p.V4892= |
Synonymous |
7/7 |
- |
1 |
14-105407112-G-T |
c.14676C>A |
p.V4892= |
Synonymous |
7/7 |
- |
1 |
14-105407119-G-A |
c.14669C>T |
p.A4890V |
Missense |
7/7 |
- |
1 |
14-105407142-T-A |
c.14646A>T |
p.G4882= |
Synonymous |
7/7 |
- |
1 |
14-105407142-T-C |
c.14646A>G |
p.G4882= |
Synonymous |
7/7 |
- |
1 |
14-105407142-T-G |
c.14646A>C |
p.G4882= |
Synonymous |
7/7 |
- |
1 |
14-105407146-T-C |
c.14642A>G |
p.E4881G |
Missense |
7/7 |
- |
1 |
14-105407164-G-A |
c.14624C>T |
p.P4875L |
Missense |
7/7 |
- |
1 |
14-105407165-G-A |
c.14623C>T |
p.P4875S |
Missense |
7/7 |
- |
3 |
14-105407170-G-A |
c.14618C>T |
p.S4873L |
Missense |
7/7 |
- |
1 |
14-105407179-A-G |
c.14609T>C |
p.F4870S |
Missense |
7/7 |
- |
1 |
14-105407181-C-T |
c.14607G>A |
p.K4869= |
Synonymous |
7/7 |
- |
1 |
14-105407208-T-A |
c.14580A>T |
p.V4860= |
Synonymous |
7/7 |
- |
2 |
14-105407208-T-C |
c.14580A>G |
p.V4860= |
Synonymous |
7/7 |
- |
22 |
14-105407208-T-G |
c.14580A>C |
p.V4860= |
Synonymous |
7/7 |
- |
2 |
14-105407209-A-T |
c.14579T>A |
p.V4860E |
Missense |
7/7 |
- |
2 |
14-105407211-C-G |
c.14577G>C |
p.Q4859H |
Missense |
7/7 |
- |
1 |
14-105407215-C-A |
c.14573G>T |
p.G4858V |
Missense |
7/7 |
- |
2 |
14-105407228-G-A |
c.14560C>T |
p.P4854S |
Missense |
7/7 |
- |
1 |
14-105407228-G-C |
c.14560C>G |
p.P4854A |
Missense |
7/7 |
- |
3 |
14-105407232-C-A |
c.14556G>T |
p.M4852I |
Missense |
7/7 |
- |
1 |
14-105407232-C-G |
c.14556G>C |
p.M4852I |
Missense |
7/7 |
- |
1 |
14-105407232-C-T |
c.14556G>A |
p.M4852I |
Missense |
7/7 |
- |
1 |
14-105407241-C-A |
c.14547G>T |
p.L4849= |
Synonymous |
7/7 |
- |
1 |
14-105407241-C-G |
c.14547G>C |
p.L4849= |
Synonymous |
7/7 |
- |
1 |
14-105407241-C-T |
c.14547G>A |
p.L4849= |
Synonymous |
7/7 |
- |
1 |
14-105407243-G-A |
c.14545C>T |
p.L4849= |
Synonymous |
7/7 |
- |
1 |
14-105407253-G-C |
c.14535C>G |
p.H4845Q |
Missense |
7/7 |
- |
1 |
14-105407253-G-T |
c.14535C>A |
p.H4845Q |
Missense |
7/7 |
- |
1 |
14-105407270-A-G |
c.14518T>C |
p.S4840P |
Missense |
7/7 |
- |
1 |
14-105407277-A-C |
c.14511T>G |
p.V4837= |
Synonymous |
7/7 |
- |
1 |
14-105407282-C-T |
c.14506G>A |
p.G4836R |
Missense |
7/7 |
- |
2 |
14-105407283-C-A |
c.14505G>T |
p.E4835D |
Missense |
7/7 |
- |
1 |
14-105407305-G-A |
c.14483C>T |
p.S4828F |
Missense |
7/7 |
- |
4 |
14-105407318-T-C |
c.14470A>G |
p.K4824E |
Missense |
7/7 |
- |
1 |
14-105407320-G-A |
c.14468C>T |
p.P4823L |
Missense |
7/7 |
- |
2 |
14-105407322-A-C |
c.14466T>G |
p.L4822= |
Synonymous |
7/7 |
- |
2 |
14-105407322-A-G |
c.14466T>C |
p.L4822= |
Synonymous |
7/7 |
- |
2 |
14-105407322-A-T |
c.14466T>A |
p.L4822= |
Synonymous |
7/7 |
- |
2 |
14-105407327-G-A |
c.14461C>T |
p.P4821S |
Missense |
7/7 |
- |
8 |
14-105407345-C-T |
c.14443G>A |
p.G4815R |
Missense |
7/7 |
- |
1 |
14-105407347-G-A |
c.14441C>T |
p.S4814F |
Missense |
7/7 |
- |
1 |
14-105407350-G-A |
c.14438C>T |
p.P4813L |
Missense |
7/7 |
- |
1 |
14-105407351-G-A |
c.14437C>T |
p.P4813S |
Missense |
7/7 |
- |
3 |
14-105407368-T-G |
c.14420A>C |
p.E4807A |
Missense |
7/7 |
- |
2 |
14-105407370-A-C |
c.14418T>G |
p.P4806= |
Synonymous |
7/7 |
- |
1 |
14-105407371-G-C |
c.14417C>G |
p.P4806R |
Missense |
7/7 |
- |
1 |
14-105407375-C-G |
c.14413G>C |
p.A4805P |
Missense |
7/7 |
- |
1 |
14-105407380-G-C |
c.14408C>G |
p.A4803G |
Missense |
7/7 |
- |
3 |
14-105407389-G-A |
c.14399C>T |
p.P4800L |
Missense |
7/7 |
- |
1 |
14-105407390-G-A |
c.14398C>T |
p.P4800S |
Missense |
7/7 |
- |
2 |
14-105407390-G-T |
c.14398C>A |
p.P4800T |
Missense |
7/7 |
- |
1 |
14-105407397-C-A |
c.14391G>T |
p.V4797= |
Synonymous |
7/7 |
- |
1 |
14-105407397-C-G |
c.14391G>C |
p.V4797= |
Synonymous |
7/7 |
- |
1 |
14-105407397-C-T |
c.14391G>A |
p.V4797= |
Synonymous |
7/7 |
- |
1 |
14-105407408-T-G |
c.14380A>C |
p.K4794Q |
Missense |
7/7 |
- |
1 |
14-105407411-T-C |
c.14377A>G |
p.T4793A |
Missense |
7/7 |
- |
1 |
14-105407424-C-A |
c.14364G>T |
p.E4788D |
Missense |
7/7 |
- |
1 |
14-105407424-C-G |
c.14364G>C |
p.E4788D |
Missense |
7/7 |
- |
2 |
14-105407428-C-T |
c.14360G>A |
p.C4787Y |
Missense |
7/7 |
- |
1 |
14-105407432-G-A |
c.14356C>T |
p.P4786S |
Missense |
7/7 |
- |
1 |
14-105407437-A-C |
c.14351T>G |
p.L4784R |
Missense |
7/7 |
- |
1 |
14-105407438-G-T |
c.14350C>A |
p.L4784I |
Missense |
7/7 |
- |
2 |
14-105407441-T-C |
c.14347A>G |
p.I4783V |
Missense |
7/7 |
- |
2 |
14-105407446-G-T |
c.14342C>A |
p.S4781Y |
Missense |
7/7 |
- |
1 |
14-105407455-T-C |
c.14333A>G |
p.H4778R |
Missense |
7/7 |
- |
2 |
14-105407468-G-C |
c.14320C>G |
p.L4774V |
Missense |
7/7 |
- |
1 |
14-105407476-C-T |
c.14312G>A |
p.R4771Q |
Missense |
7/7 |
- |
1 |
14-105407477-G-A |
c.14311C>T |
p.R4771W |
Missense |
7/7 |
- |
2 |
14-105407479-G-A |
c.14309C>T |
p.S4770F |
Missense |
7/7 |
- |
1 |
14-105407479-G-GTCCTCCCCT |
c.14308_14309insAGGGGAGGA |
p.S4770delins* |
Nonsense |
7/7 |
- |
1 |
14-105407484-T-A |
c.14304A>T |
p.P4768= |
Synonymous |
7/7 |
- |
2 |
14-105407484-T-C |
c.14304A>G |
p.P4768= |
Synonymous |
7/7 |
- |
2 |
14-105407484-T-G |
c.14304A>C |
p.P4768= |
Synonymous |
7/7 |
- |
2 |
14-105407486-G-A |
c.14302C>T |
p.P4768S |
Missense |
7/7 |
- |
2 |
14-105407524-G-A |
c.14264C>T |
p.P4755L |
Missense |
7/7 |
- |
1 |
14-105407525-G-A |
c.14263C>T |
p.P4755S |
Missense |
7/7 |
- |
7 |
14-105407537-C-A |
c.14251G>T |
p.A4751S |
Missense |
7/7 |
- |
1 |
14-105407538-C-A |
c.14250G>T |
p.S4750= |
Synonymous |
7/7 |
- |
1 |
14-105407538-C-T |
c.14250G>A |
p.S4750= |
Synonymous |
7/7 |
- |
2 |
14-105407539-G-A |
c.14249C>T |
p.S4750L |
Missense |
7/7 |
- |
7 |
14-105407551-A-C |
c.14237T>G |
p.L4746* |
Nonsense |
7/7 |
- |
3 |
14-105407551-A-T |
c.14237T>A |
p.L4746* |
Nonsense |
7/7 |
- |
3 |
14-105407560-CT-AG |
c.14227_14228inv |
p.S4743L |
Missense |
7/7 |
- |
1 |
14-105407565-G-A |
c.14223C>T |
p.C4741= |
Synonymous |
7/7 |
- |
1 |
14-105407578-G-A |
c.14210C>T |
p.S4737L |
Missense |
7/7 |
- |
3 |
14-105407585-G-A |
c.14203C>T |
p.P4735S |
Missense |
7/7 |
- |
1 |
14-105407589-C-T |
c.14199G>A |
p.T4733= |
Synonymous |
7/7 |
- |
1 |
14-105407601-T-C |
c.14187A>G |
p.I4729M |
Missense |
7/7 |
- |
2 |
14-105407603-T-A |
c.14185A>T |
p.I4729L |
Missense |
7/7 |
- |
1 |
14-105407603-T-G |
c.14185A>C |
p.I4729L |
Missense |
7/7 |
- |
1 |
14-105407610-C-T |
c.14178G>A |
p.K4726= |
Synonymous |
7/7 |
- |
1 |
14-105407617-C-T |
c.14171G>A |
p.G4724D |
Missense |
7/7 |
- |
1 |
14-105407622-G-A |
c.14166C>T |
p.V4722= |
Synonymous |
7/7 |
- |
2 |
14-105407622-G-C |
c.14166C>G |
p.V4722= |
Synonymous |
7/7 |
- |
1 |
14-105407622-G-T |
c.14166C>A |
p.V4722= |
Synonymous |
7/7 |
- |
1 |
14-105407625-T-A |
c.14163A>T |
p.L4721F |
Missense |
7/7 |
- |
1 |
14-105407625-T-G |
c.14163A>C |
p.L4721F |
Missense |
7/7 |
- |
1 |
14-105407633-C-CA |
c.14154_14155insT |
p.D4719* |
Nonsense |
7/7 |
- |
1 |
14-105407633-C-T |
c.14155G>A |
p.D4719N |
Missense |
7/7 |
- |
1 |
14-105407644-T-G |
c.14144A>C |
p.K4715T |
Missense |
7/7 |
- |
1 |
14-105407648-T-C |
c.14140A>G |
p.T4714A |
Missense |
7/7 |
- |
3 |
14-105407650-G-T |
c.14138C>A |
p.S4713Y |
Missense |
7/7 |
- |
1 |
14-105407651-A-G |
c.14137T>C |
p.S4713P |
Missense |
7/7 |
- |
1 |
14-105407653-G-A |
c.14135C>T |
p.S4712F |
Missense |
7/7 |
- |
3 |
14-105407655-A-G |
c.14133T>C |
p.F4711= |
Synonymous |
7/7 |
- |
1 |
14-105407658-T-A |
c.14130A>T |
p.S4710= |
Synonymous |
7/7 |
- |
1 |
14-105407658-T-C |
c.14130A>G |
p.S4710= |
Synonymous |
7/7 |
- |
1 |
14-105407658-T-G |
c.14130A>C |
p.S4710= |
Synonymous |
7/7 |
- |
1 |
14-105407658-TG-AC |
c.14129_14130delinsGT |
p.S4710C |
Missense |
7/7 |
- |
1 |
14-105407659-G-A |
c.14129C>T |
p.S4710L |
Missense |
7/7 |
- |
1 |
14-105407659-G-T |
c.14129C>A |
p.S4710* |
Nonsense |
7/7 |
- |
1 |
14-105407664-T-G |
c.14124A>C |
p.K4708N |
Missense |
7/7 |
- |
1 |
14-105407672-C-A |
c.14116G>T |
p.V4706L |
Missense |
7/7 |
- |
2 |
14-105407672-C-G |
c.14116G>C |
p.V4706L |
Missense |
7/7 |
- |
2 |
14-105407677-A-C |
c.14111T>G |
p.F4704C |
Missense |
7/7 |
- |
2 |
14-105407691-A-G |
c.14097T>C |
p.F4699= |
Synonymous |
7/7 |
- |
1 |
14-105407697-C-A |
c.14091G>T |
p.S4697= |
Synonymous |
7/7 |
- |
2 |
14-105407697-C-G |
c.14091G>C |
p.S4697= |
Synonymous |
7/7 |
- |
1 |
14-105407697-C-T |
c.14091G>A |
p.S4697= |
Synonymous |
7/7 |
- |
3 |
14-105407698-G-A |
c.14090C>T |
p.S4697L |
Missense |
7/7 |
- |
11 |
14-105407701-T-C |
c.14087A>G |
p.D4696G |
Missense |
7/7 |
- |
1 |
14-105407702-C-T |
c.14086G>A |
p.D4696N |
Missense |
7/7 |
- |
1 |
14-105407704-A-T |
c.14084T>A |
p.M4695K |
Missense |
7/7 |
- |
2 |
14-105407710-A-G |
c.14078T>C |
p.V4693A |
Missense |
7/7 |
- |
1 |
14-105407713-T-A |
c.14075A>T |
p.E4692V |
Missense |
7/7 |
- |
2 |
14-105407714-C-T |
c.14074G>A |
p.E4692K |
Missense |
7/7 |
- |
4 |
14-105407716-C-T |
c.14072G>A |
p.G4691E |
Missense |
7/7 |
- |
2 |
14-105407725-A-C |
c.14063T>G |
p.L4688R |
Missense |
7/7 |
- |
1 |
14-105407726-G-T |
c.14062C>A |
p.L4688I |
Missense |
7/7 |
- |
1 |
14-105407737-C-A |
c.14051G>T |
p.G4684V |
Missense |
7/7 |
- |
1 |
14-105407743-C-T |
c.14045G>A |
p.R4682H |
Missense |
7/7 |
- |
4 |
14-105407749-G-A |
c.14039C>T |
p.P4680L |
Missense |
7/7 |
- |
2 |
14-105407749-G-T |
c.14039C>A |
p.P4680Q |
Missense |
7/7 |
- |
1 |
14-105407750-G-C |
c.14038C>G |
p.P4680A |
Missense |
7/7 |
- |
1 |
14-105407752-T-G |
c.14036A>C |
p.D4679A |
Missense |
7/7 |
- |
1 |
14-105407756-G-GAC |
c.14031_14032insGT |
p.H4678Vfs*45 |
Frameshift |
7/7 |
- |
2 |
14-105407762-C-G |
c.14026G>C |
p.D4676H |
Missense |
7/7 |
- |
5 |
14-105407765-C-T |
c.14023G>A |
p.G4675S |
Missense |
7/7 |
- |
1 |
14-105407769-A-G |
c.14019T>C |
p.H4673= |
Synonymous |
7/7 |
- |
1 |
14-105407770-T-A |
c.14018A>T |
p.H4673L |
Missense |
7/7 |
- |
2 |
14-105407780-A-T |
c.14008T>A |
p.S4670T |
Missense |
7/7 |
- |
4 |
14-105407781-T-C |
c.14007A>G |
p.E4669= |
Synonymous |
7/7 |
- |
1 |
14-105407783-C-T |
c.14005G>A |
p.E4669K |
Missense |
7/7 |
- |
3 |
14-105407789-T-C |
c.13999A>G |
p.I4667V |
Missense |
7/7 |
- |
2 |
14-105407796-T-A |
c.13992A>T |
p.T4664= |
Synonymous |
7/7 |
- |
1 |
14-105407796-T-C |
c.13992A>G |
p.T4664= |
Synonymous |
7/7 |
- |
1 |
14-105407796-T-G |
c.13992A>C |
p.T4664= |
Synonymous |
7/7 |
- |
1 |
14-105407798-T-C |
c.13990A>G |
p.T4664A |
Missense |
7/7 |
- |
29 |
14-105407826-T-A |
c.13962A>T |
p.G4654= |
Synonymous |
7/7 |
- |
1 |
14-105407826-T-C |
c.13962A>G |
p.G4654= |
Synonymous |
7/7 |
- |
4 |
14-105407826-T-G |
c.13962A>C |
p.G4654= |
Synonymous |
7/7 |
- |
1 |
14-105407828-C-T |
c.13960G>A |
p.G4654R |
Missense |
7/7 |
- |
1 |
14-105407859-C-A |
c.13929G>T |
p.K4643N |
Missense |
7/7 |
- |
5 |
14-105407859-C-G |
c.13929G>C |
p.K4643N |
Missense |
7/7 |
- |
2 |
14-105407862-TG-AC |
c.13925_13926delinsGT |
p.S4642C |
Missense |
7/7 |
- |
1 |
14-105407865-C-A |
c.13923G>T |
p.S4641= |
Synonymous |
7/7 |
- |
1 |
14-105407865-C-G |
c.13923G>C |
p.S4641= |
Synonymous |
7/7 |
- |
1 |
14-105407865-C-T |
c.13923G>A |
p.S4641= |
Synonymous |
7/7 |
- |
2 |
14-105407866-G-A |
c.13922C>T |
p.S4641L |
Missense |
7/7 |
- |
2 |
14-105407868-C-T |
c.13920G>A |
p.W4640* |
Nonsense |
7/7 |
- |
3 |
14-105407869-C-A |
c.13919G>T |
p.W4640L |
Missense |
7/7 |
- |
1 |
14-105407869-C-T |
c.13919G>A |
p.W4640* |
Nonsense |
7/7 |
- |
4 |
14-105407881-G-A |
c.13907C>T |
p.S4636F |
Missense |
7/7 |
- |
5 |
14-105407883-C-T |
c.13905G>A |
p.T4635= |
Synonymous |
7/7 |
- |
1 |
14-105407884-G-A |
c.13904C>T |
p.T4635M |
Missense |
7/7 |
- |
1 |
14-105407890-A-G |
c.13898T>C |
p.L4633P |
Missense |
7/7 |
- |
1 |
14-105407900-C-A |
c.13888G>T |
p.G4630* |
Nonsense |
7/7 |
- |
1 |
14-105407903-G-C |
c.13885C>G |
p.Q4629E |
Missense |
7/7 |
- |
1 |
14-105407906-A-G |
c.13882T>C |
p.F4628L |
Missense |
7/7 |
- |
1 |
14-105407907-C-T |
c.13881G>A |
p.K4627= |
Synonymous |
7/7 |
- |
1 |
14-105407910-A-G |
c.13878T>C |
p.S4626= |
Synonymous |
7/7 |
- |
1 |
14-105407912-T-TA |
c.13875_13876insT |
p.S4626* |
Nonsense |
7/7 |
- |
1 |
14-105407913-GTC-G |
c.13873_13874del |
p.D4625Qfs*2 |
Frameshift |
7/7 |
- |
1 |
14-105407928-A-G |
c.13860T>C |
p.D4620= |
Synonymous |
7/7 |
- |
1 |
14-105407931-C-T |
c.13857G>A |
p.E4619= |
Synonymous |
7/7 |
- |
1 |
14-105407933-C-T |
c.13855G>A |
p.E4619K |
Missense |
7/7 |
- |
4 |
14-105407934-G-A |
c.13854C>T |
p.H4618= |
Synonymous |
7/7 |
- |
3 |
14-105407936-G-T |
c.13852C>A |
p.H4618N |
Missense |
7/7 |
- |
1 |
14-105407944-G-T |
c.13844C>A |
p.S4615Y |
Missense |
7/7 |
- |
1 |
14-105407952-C-T |
c.13836G>A |
p.G4612= |
Synonymous |
7/7 |
- |
2 |
14-105407954-C-G |
c.13834G>C |
p.G4612R |
Missense |
7/7 |
- |
2 |
14-105407954-C-T |
c.13834G>A |
p.G4612R |
Missense |
7/7 |
- |
2 |
14-105407955-C-A |
c.13833G>T |
p.E4611D |
Missense |
7/7 |
- |
1 |
14-105407955-C-G |
c.13833G>C |
p.E4611D |
Missense |
7/7 |
- |
1 |
14-105407961-C-A |
c.13827G>T |
p.R4609= |
Synonymous |
7/7 |
- |
1 |
14-105407961-C-G |
c.13827G>C |
p.R4609= |
Synonymous |
7/7 |
- |
1 |
14-105407961-C-T |
c.13827G>A |
p.R4609= |
Synonymous |
7/7 |
- |
1 |
14-105407963-G-A |
c.13825C>T |
p.R4609W |
Missense |
7/7 |
- |
1 |
14-105407963-G-T |
c.13825C>A |
p.R4609= |
Synonymous |
7/7 |
- |
1 |
14-105407964-C-A |
c.13824G>T |
p.A4608= |
Synonymous |
7/7 |
- |
1 |
14-105407964-C-G |
c.13824G>C |
p.A4608= |
Synonymous |
7/7 |
- |
1 |
14-105407964-C-T |
c.13824G>A |
p.A4608= |
Synonymous |
7/7 |
- |
2 |
14-105407965-G-A |
c.13823C>T |
p.A4608V |
Missense |
7/7 |
- |
2 |
14-105407967-A-C |
c.13821T>G |
p.G4607= |
Synonymous |
7/7 |
- |
1 |
14-105407969-C-A |
c.13819G>T |
p.G4607C |
Missense |
7/7 |
- |
1 |
14-105407977-A-G |
c.13811T>C |
p.M4604T |
Missense |
7/7 |
- |
1 |
14-105407979-G-A |
c.13809C>T |
p.S4603= |
Synonymous |
7/7 |
- |
1 |
14-105407980-G-A |
c.13808C>T |
p.S4603F |
Missense |
7/7 |
- |
1 |
14-105407986-G-A |
c.13802C>T |
p.P4601L |
Missense |
7/7 |
- |
2 |
14-105407987-G-A |
c.13801C>T |
p.P4601S |
Missense |
7/7 |
- |
2 |
14-105407989-G-T |
c.13799C>A |
p.A4600D |
Missense |
7/7 |
- |
2 |
14-105407993-G-T |
c.13795C>A |
p.Q4599K |
Missense |
7/7 |
- |
6 |
14-105407994-G-A |
c.13794C>T |
p.V4598= |
Synonymous |
7/7 |
- |
1 |
14-105407999-C-A |
c.13789G>T |
p.D4597Y |
Missense |
7/7 |
- |
2 |
14-105407999-C-T |
c.13789G>A |
p.D4597N |
Missense |
7/7 |
- |
2 |
14-105408000-C-A |
c.13788G>T |
p.T4596= |
Synonymous |
7/7 |
- |
1 |
14-105408000-C-G |
c.13788G>C |
p.T4596= |
Synonymous |
7/7 |
- |
1 |
14-105408000-C-T |
c.13788G>A |
p.T4596= |
Synonymous |
7/7 |
- |
3 |
14-105408005-C-G |
c.13783G>C |
p.E4595Q |
Missense |
7/7 |
- |
1 |
14-105408006-C-T |
c.13782G>A |
p.V4594= |
Synonymous |
7/7 |
- |
1 |
14-105408008-C-T |
c.13780G>A |
p.V4594M |
Missense |
7/7 |
- |
5 |
14-105408009-G-C |
c.13779C>G |
p.S4593R |
Missense |
7/7 |
- |
5 |
14-105408009-G-T |
c.13779C>A |
p.S4593R |
Missense |
7/7 |
- |
4 |
14-105408011-T-G |
c.13777A>C |
p.S4593R |
Missense |
7/7 |
- |
4 |
14-105408019-GA-CC |
c.13768_13769delinsGG |
p.S4590G |
Missense |
7/7 |
- |
1 |
14-105408023-C-T |
c.13765G>A |
p.V4589M |
Missense |
7/7 |
- |
1 |
14-105408024-C-T |
c.13764G>A |
p.E4588= |
Synonymous |
7/7 |
- |
1 |
14-105408025-T-C |
c.13763A>G |
p.E4588G |
Missense |
7/7 |
- |
1 |
14-105408026-C-G |
c.13762G>C |
p.E4588Q |
Missense |
7/7 |
- |
1 |
14-105408030-A-G |
c.13758T>C |
p.D4586= |
Synonymous |
7/7 |
- |
18 |
14-105408031-T-A |
c.13757A>T |
p.D4586V |
Missense |
7/7 |
- |
1 |
14-105408032-C-T |
c.13756G>A |
p.D4586N |
Missense |
7/7 |
- |
7 |
14-105408033-G-A |
c.13755C>T |
p.P4585= |
Synonymous |
7/7 |
- |
3 |
14-105408033-G-C |
c.13755C>G |
p.P4585= |
Synonymous |
7/7 |
- |
1 |
14-105408033-G-T |
c.13755C>A |
p.P4585= |
Synonymous |
7/7 |
- |
1 |
14-105408032-CG-C |
c.13755del |
p.D4586Mfs*36 |
Frameshift |
7/7 |
- |
2 |
14-105408038-C-T |
c.13750G>A |
p.A4584T |
Missense |
7/7 |
- |
1 |
14-105408043-A-G |
c.13745T>C |
p.V4582A |
Missense |
7/7 |
- |
1 |
14-105408045-C-A |
c.13743G>T |
p.E4581D |
Missense |
7/7 |
- |
1 |
14-105408045-C-G |
c.13743G>C |
p.E4581D |
Missense |
7/7 |
- |
1 |
14-105408047-C-A |
c.13741G>T |
p.E4581* |
Nonsense |
7/7 |
- |
1 |
14-105408047-C-T |
c.13741G>A |
p.E4581K |
Missense |
7/7 |
- |
1 |
14-105408054-T-A |
c.13734A>T |
p.P4578= |
Synonymous |
7/7 |
- |
1 |
14-105408054-T-C |
c.13734A>G |
p.P4578= |
Synonymous |
7/7 |
- |
1 |
14-105408054-T-G |
c.13734A>C |
p.P4578= |
Synonymous |
7/7 |
- |
1 |
14-105408056-G-A |
c.13732C>T |
p.P4578S |
Missense |
7/7 |
- |
2 |
14-105408066-G-A |
c.13722C>T |
p.D4574= |
Synonymous |
7/7 |
- |
1 |
14-105408067-GT-G |
c.13721del |
p.D4574Afs*2 |
Frameshift |
7/7 |
- |
1 |
14-105408077-G-A |
c.13711C>T |
p.P4571S |
Missense |
7/7 |
- |
1 |
14-105408074-TG-T |
c.13713del |
p.K4572Sfs*4 |
Frameshift |
7/7 |
- |
1 |
14-105408084-G-A |
c.13704C>T |
p.V4568= |
Synonymous |
7/7 |
- |
1 |
14-105408086-C-G |
c.13702G>C |
p.V4568L |
Missense |
7/7 |
- |
1 |
14-105408086-C-T |
c.13702G>A |
p.V4568I |
Missense |
7/7 |
- |
4 |
14-105408087-G-A |
c.13701C>T |
p.D4567= |
Synonymous |
7/7 |
- |
1 |
14-105408092-C-T |
c.13696G>A |
p.V4566M |
Missense |
7/7 |
- |
2 |
14-105408093-C-G |
c.13695G>C |
p.Q4565H |
Missense |
7/7 |
- |
1 |
14-105408095-G-C |
c.13693C>G |
p.Q4565E |
Missense |
7/7 |
- |
1 |
14-105408099-G-A |
c.13689C>T |
p.G4563= |
Synonymous |
7/7 |
- |
1 |
14-105408105-G-A |
c.13683C>T |
p.L4561= |
Synonymous |
7/7 |
- |
4 |
14-105408107-G-T |
c.13681C>A |
p.L4561I |
Missense |
7/7 |
- |
6 |
14-105408109-T-G |
c.13679A>C |
p.D4560A |
Missense |
7/7 |
- |
2 |
14-105408110-C-T |
c.13678G>A |
p.D4560N |
Missense |
7/7 |
- |
1 |
14-105408109-TC-T |
c.13678del |
p.D4560Tfs*16 |
Frameshift |
7/7 |
- |
2 |
14-105408111-CAC-AAA |
c.13675_13677delinsTTT |
p.V4559F |
Missense |
7/7 |
- |
1 |
14-105408111-C-T |
c.13677G>A |
p.V4559= |
Synonymous |
7/7 |
- |
3 |
14-105408126-G-C |
c.13662C>G |
p.F4554L |
Missense |
7/7 |
- |
2 |
14-105408126-G-T |
c.13662C>A |
p.F4554L |
Missense |
7/7 |
- |
2 |
14-105408128-A-G |
c.13660T>C |
p.F4554L |
Missense |
7/7 |
- |
2 |
14-105408131-T-C |
c.13657A>G |
p.S4553G |
Missense |
7/7 |
- |
1 |
14-105408138-C-T |
c.13650G>A |
p.E4550= |
Synonymous |
7/7 |
- |
2 |
14-105408140-C-G |
c.13648G>C |
p.E4550Q |
Missense |
7/7 |
- |
7 |
14-105408140-C-T |
c.13648G>A |
p.E4550K |
Missense |
7/7 |
- |
1 |
14-105408141-C-CA |
c.13646dup |
p.E4550Gfs*62 |
Frameshift |
7/7 |
- |
1 |
14-105408149-G-A |
c.13639C>T |
p.P4547S |
Missense |
7/7 |
- |
1 |
14-105408151-A-G |
c.13637T>C |
p.L4546P |
Missense |
7/7 |
- |
2 |
14-105408158-C-G |
c.13630G>C |
p.G4544R |
Missense |
7/7 |
- |
1 |
14-105408158-C-T |
c.13630G>A |
p.G4544R |
Missense |
7/7 |
- |
4 |
14-105408164-G-A |
c.13624C>T |
p.L4542F |
Missense |
7/7 |
- |
4 |
14-105408166-C-T |
c.13622G>A |
p.G4541D |
Missense |
7/7 |
- |
1 |
14-105408168-G-A |
c.13620C>T |
p.A4540= |
Synonymous |
7/7 |
- |
3 |
14-105408168-G-C |
c.13620C>G |
p.A4540= |
Synonymous |
7/7 |
- |
1 |
14-105408168-G-T |
c.13620C>A |
p.A4540= |
Synonymous |
7/7 |
- |
1 |
14-105408171-T-A |
c.13617A>T |
p.V4539= |
Synonymous |
7/7 |
- |
1 |
14-105408171-T-C |
c.13617A>G |
p.V4539= |
Synonymous |
7/7 |
- |
1 |
14-105408171-T-G |
c.13617A>C |
p.V4539= |
Synonymous |
7/7 |
- |
1 |
14-105408177-G-A |
c.13611C>T |
p.P4537= |
Synonymous |
7/7 |
- |
2 |
14-105408177-G-C |
c.13611C>G |
p.P4537= |
Synonymous |
7/7 |
- |
2 |
14-105408177-G-T |
c.13611C>A |
p.P4537= |
Synonymous |
7/7 |
- |
2 |
14-105408176-CGGGCATGTGGCCTTCT-C |
c.13596_13611del |
p.E4533Rfs*2 |
Frameshift |
7/7 |
- |
1 |
14-105408179-G-C |
c.13609C>G |
p.P4537A |
Missense |
7/7 |
- |
1 |
14-105408182-T-A |
c.13606A>T |
p.M4536L |
Missense |
7/7 |
- |
4 |
14-105408182-T-C |
c.13606A>G |
p.M4536V |
Missense |
7/7 |
- |
6 |
14-105408182-T-G |
c.13606A>C |
p.M4536L |
Missense |
7/7 |
- |
30 |
14-105408187-C-A |
c.13601G>T |
p.G4534V |
Missense |
7/7 |
- |
1 |
14-105408187-C-T |
c.13601G>A |
p.G4534D |
Missense |
7/7 |
- |
1 |
14-105408194-G-A |
c.13594C>T |
p.P4532S |
Missense |
7/7 |
- |
5 |
14-105408203-A-G |
c.13585T>C |
p.L4529= |
Synonymous |
7/7 |
- |
1 |
14-105408211-T-A |
c.13577A>T |
p.Q4526L |
Missense |
7/7 |
- |
2 |
14-105408218-C-T |
c.13570G>A |
p.A4524T |
Missense |
7/7 |
- |
1 |
14-105408222-G-A |
c.13566C>T |
p.V4522= |
Synonymous |
7/7 |
- |
1 |
14-105408224-C-T |
c.13564G>A |
p.V4522I |
Missense |
7/7 |
- |
1 |
14-105408231-G-A |
c.13557C>T |
p.D4519= |
Synonymous |
7/7 |
- |
1 |
14-105408234-G-A |
c.13554C>T |
p.A4518= |
Synonymous |
7/7 |
- |
3 |
14-105408234-G-C |
c.13554C>G |
p.A4518= |
Synonymous |
7/7 |
- |
1 |
14-105408234-G-T |
c.13554C>A |
p.A4518= |
Synonymous |
7/7 |
- |
1 |
14-105408237-G-A |
c.13551C>T |
p.S4517= |
Synonymous |
7/7 |
- |
3 |
14-105408237-G-C |
c.13551C>G |
p.S4517= |
Synonymous |
7/7 |
- |
1 |
14-105408237-G-T |
c.13551C>A |
p.S4517= |
Synonymous |
7/7 |
- |
1 |
14-105408243-G-A |
c.13545C>T |
p.A4515= |
Synonymous |
7/7 |
- |
1 |
14-105408243-G-C |
c.13545C>G |
p.A4515= |
Synonymous |
7/7 |
- |
1 |
14-105408243-G-T |
c.13545C>A |
p.A4515= |
Synonymous |
7/7 |
- |
1 |
14-105408248-G-C |
c.13540C>G |
p.Q4514E |
Missense |
7/7 |
- |
3 |
14-105408253-C-T |
c.13535G>A |
p.R4512H |
Missense |
7/7 |
- |
5 |
14-105408255-G-A |
c.13533C>T |
p.L4511= |
Synonymous |
7/7 |
- |
1 |
14-105408255-G-C |
c.13533C>G |
p.L4511= |
Synonymous |
7/7 |
- |
1 |
14-105408255-G-T |
c.13533C>A |
p.L4511= |
Synonymous |
7/7 |
- |
2 |
14-105408258-G-C |
c.13530C>G |
p.D4510E |
Missense |
7/7 |
- |
2 |
14-105408258-G-T |
c.13530C>A |
p.D4510E |
Missense |
7/7 |
- |
3 |
14-105408262-G-A |
c.13526C>T |
p.T4509I |
Missense |
7/7 |
- |
1 |
14-105408265-G-T |
c.13523C>A |
p.T4508N |
Missense |
7/7 |
- |
1 |
14-105408269-T-A |
c.13519A>T |
p.K4507* |
Nonsense |
7/7 |
- |
1 |
14-105408270-G-C |
c.13518C>G |
p.L4506= |
Synonymous |
7/7 |
- |
1 |
14-105408273-G-C |
c.13515C>G |
p.D4505E |
Missense |
7/7 |
- |
1 |
14-105408273-G-T |
c.13515C>A |
p.D4505E |
Missense |
7/7 |
- |
2 |
14-105408275-C-T |
c.13513G>A |
p.D4505N |
Missense |
7/7 |
- |
1 |
14-105408277-C-G |
c.13511G>C |
p.G4504A |
Missense |
7/7 |
- |
1 |
14-105408280-T-C |
c.13508A>G |
p.Q4503R |
Missense |
7/7 |
- |
3 |
14-105408286-G-A |
c.13502C>T |
p.S4501F |
Missense |
7/7 |
- |
3 |
14-105408290-G-A |
c.13498C>T |
p.P4500S |
Missense |
7/7 |
- |
1 |
14-105408291-A-G |
c.13497T>C |
p.I4499= |
Synonymous |
7/7 |
- |
1 |
14-105408293-T-G |
c.13495A>C |
p.I4499L |
Missense |
7/7 |
- |
1 |
14-105408302-C-T |
c.13486G>A |
p.D4496N |
Missense |
7/7 |
- |
7 |
14-105408303-G-A |
c.13485C>T |
p.A4495= |
Synonymous |
7/7 |
- |
2 |
14-105408303-G-C |
c.13485C>G |
p.A4495= |
Synonymous |
7/7 |
- |
1 |
14-105408303-G-T |
c.13485C>A |
p.A4495= |
Synonymous |
7/7 |
- |
1 |
14-105408304-G-A |
c.13484C>T |
p.A4495V |
Missense |
7/7 |
- |
1 |
14-105408304-G-T |
c.13484C>A |
p.A4495D |
Missense |
7/7 |
- |
1 |
14-105408311-T-C |
c.13477A>G |
p.M4493V |
Missense |
7/7 |
- |
1 |
14-105408312-C-A |
c.13476G>T |
p.K4492N |
Missense |
7/7 |
- |
1 |
14-105408315-T-A |
c.13473A>T |
p.P4491= |
Synonymous |
7/7 |
- |
3 |
14-105408315-T-C |
c.13473A>G |
p.P4491= |
Synonymous |
7/7 |
- |
19 |
14-105408315-T-G |
c.13473A>C |
p.P4491= |
Synonymous |
7/7 |
- |
3 |
14-105408319-G-A |
c.13469C>T |
p.A4490V |
Missense |
7/7 |
- |
3 |
14-105408329-C-A |
c.13459G>T |
p.D4487Y |
Missense |
7/7 |
- |
1 |
14-105408329-C-G |
c.13459G>C |
p.D4487H |
Missense |
7/7 |
- |
1 |
14-105408332-C-A |
c.13456G>T |
p.V4486L |
Missense |
7/7 |
- |
2 |
14-105408332-C-G |
c.13456G>C |
p.V4486L |
Missense |
7/7 |
- |
2 |
14-105408333-C-A |
c.13455G>T |
p.S4485= |
Synonymous |
7/7 |
- |
1 |
14-105408333-C-G |
c.13455G>C |
p.S4485= |
Synonymous |
7/7 |
- |
1 |
14-105408333-C-T |
c.13455G>A |
p.S4485= |
Synonymous |
7/7 |
- |
1 |
14-105408334-G-A |
c.13454C>T |
p.S4485L |
Missense |
7/7 |
- |
1 |
14-105408335-A-G |
c.13453T>C |
p.S4485P |
Missense |
7/7 |
- |
2 |
14-105408336-G-A |
c.13452C>T |
p.V4484= |
Synonymous |
7/7 |
- |
1 |
14-105408337-A-G |
c.13451T>C |
p.V4484A |
Missense |
7/7 |
- |
1 |
14-105408341-C-T |
c.13447G>A |
p.E4483K |
Missense |
7/7 |
- |
2 |
14-105408342-G-A |
c.13446C>T |
p.I4482= |
Synonymous |
7/7 |
- |
2 |
14-105408344-T-A |
c.13444A>T |
p.I4482F |
Missense |
7/7 |
- |
3 |
14-105408345-G-A |
c.13443C>T |
p.S4481= |
Synonymous |
7/7 |
- |
2 |
14-105408356-G-T |
c.13432C>A |
p.P4478T |
Missense |
7/7 |
- |
1 |
14-105408357-G-A |
c.13431C>T |
p.S4477= |
Synonymous |
7/7 |
- |
1 |
14-105408357-G-C |
c.13431C>G |
p.S4477= |
Synonymous |
7/7 |
- |
1 |
14-105408357-G-T |
c.13431C>A |
p.S4477= |
Synonymous |
7/7 |
- |
1 |
14-105408358-G-A |
c.13430C>T |
p.S4477F |
Missense |
7/7 |
- |
2 |
14-105408372-G-A |
c.13416C>T |
p.S4472= |
Synonymous |
7/7 |
- |
1 |
14-105408372-G-C |
c.13416C>G |
p.S4472= |
Synonymous |
7/7 |
- |
2 |
14-105408372-G-T |
c.13416C>A |
p.S4472= |
Synonymous |
7/7 |
- |
3 |
14-105408373-G-A |
c.13415C>T |
p.S4472F |
Missense |
7/7 |
- |
2 |
14-105408384-G-T |
c.13404C>A |
p.F4468L |
Missense |
7/7 |
- |
1 |
14-105408408-G-C |
c.13380C>G |
p.D4460E |
Missense |
7/7 |
- |
2 |
14-105408408-G-T |
c.13380C>A |
p.D4460E |
Missense |
7/7 |
- |
2 |
14-105408410-C-G |
c.13378G>C |
p.D4460H |
Missense |
7/7 |
- |
1 |
14-105408414-G-C |
c.13374C>G |
p.A4458= |
Synonymous |
7/7 |
- |
1 |
14-105408419-T-C |
c.13369A>G |
p.T4457A |
Missense |
7/7 |
- |
1 |
14-105408422-C-T |
c.13366G>A |
p.V4456M |
Missense |
7/7 |
- |
1 |
14-105408423-G-A |
c.13365C>T |
p.D4455= |
Synonymous |
7/7 |
- |
1 |
14-105408425-C-T |
c.13363G>A |
p.D4455N |
Missense |
7/7 |
- |
1 |
14-105408426-C-A |
c.13362G>T |
p.K4454N |
Missense |
7/7 |
- |
2 |
14-105408426-C-G |
c.13362G>C |
p.K4454N |
Missense |
7/7 |
- |
1 |
14-105408430-T-A |
c.13358A>T |
p.D4453V |
Missense |
7/7 |
- |
2 |
14-105408432-A-G |
c.13356T>C |
p.A4452= |
Synonymous |
7/7 |
- |
2 |
14-105408434-C-T |
c.13354G>A |
p.A4452T |
Missense |
7/7 |
- |
1 |
14-105408438-G-A |
c.13350C>T |
p.S4450= |
Synonymous |
7/7 |
- |
1 |
14-105408439-G-A |
c.13349C>T |
p.S4450F |
Missense |
7/7 |
- |
1 |
14-105408443-G-C |
c.13345C>G |
p.L4449V |
Missense |
7/7 |
- |
1 |
14-105408445-T-C |
c.13343A>G |
p.D4448G |
Missense |
7/7 |
- |
1 |
14-105408445-T-TC |
c.13342dup |
p.D4448Gfs*6 |
Frameshift |
7/7 |
- |
2 |
14-105408450-C-A |
c.13338G>T |
p.E4446D |
Missense |
7/7 |
- |
1 |
14-105408450-C-G |
c.13338G>C |
p.E4446D |
Missense |
7/7 |
- |
1 |
14-105408451-T-A |
c.13337A>T |
p.E4446V |
Missense |
7/7 |
- |
2 |
14-105408457-C-T |
c.13331G>A |
p.R4444Q |
Missense |
7/7 |
- |
4 |
14-105408459-C-A |
c.13329G>T |
p.T4443= |
Synonymous |
7/7 |
- |
1 |
14-105408459-C-G |
c.13329G>C |
p.T4443= |
Synonymous |
7/7 |
- |
1 |
14-105408459-C-T |
c.13329G>A |
p.T4443= |
Synonymous |
7/7 |
- |
2 |
14-105408460-G-A |
c.13328C>T |
p.T4443M |
Missense |
7/7 |
- |
1 |
14-105408460-G-T |
c.13328C>A |
p.T4443K |
Missense |
7/7 |
- |
1 |
14-105408462-A-C |
c.13326T>G |
p.S4442R |
Missense |
7/7 |
- |
2 |
14-105408464-T-C |
c.13324A>G |
p.S4442G |
Missense |
7/7 |
- |
2 |
14-105408467-C-T |
c.13321G>A |
p.D4441N |
Missense |
7/7 |
- |
1 |
14-105408500-C-T |
c.13288G>A |
p.E4430K |
Missense |
7/7 |
- |
5 |
14-105408509-G-A |
c.13279C>T |
p.P4427S |
Missense |
7/7 |
- |
1 |
14-105408511-A-G |
c.13277T>C |
p.L4426P |
Missense |
7/7 |
- |
1 |
14-105408514-G-A |
c.13274C>T |
p.S4425F |
Missense |
7/7 |
- |
2 |
14-105408517-A-G |
c.13271T>C |
p.V4424A |
Missense |
7/7 |
- |
1 |
14-105408518-C-T |
c.13270G>A |
p.V4424M |
Missense |
7/7 |
- |
1 |
14-105408519-G-A |
c.13269C>T |
p.D4423= |
Synonymous |
7/7 |
- |
3 |
14-105408519-G-C |
c.13269C>G |
p.D4423E |
Missense |
7/7 |
- |
1 |
14-105408520-T-A |
c.13268A>T |
p.D4423V |
Missense |
7/7 |
- |
1 |
14-105408521-C-T |
c.13267G>A |
p.D4423N |
Missense |
7/7 |
- |
1 |
14-105408524-G-C |
c.13264C>G |
p.L4422V |
Missense |
7/7 |
- |
1 |
14-105408529-G-A |
c.13259C>T |
p.P4420L |
Missense |
7/7 |
- |
1 |
14-105408531-G-A |
c.13257C>T |
p.S4419= |
Synonymous |
7/7 |
- |
1 |
14-105408531-G-C |
c.13257C>G |
p.S4419= |
Synonymous |
7/7 |
- |
1 |
14-105408531-G-T |
c.13257C>A |
p.S4419= |
Synonymous |
7/7 |
- |
1 |
14-105408532-G-A |
c.13256C>T |
p.S4419F |
Missense |
7/7 |
- |
4 |
14-105408533-A-T |
c.13255T>A |
p.S4419T |
Missense |
7/7 |
- |
2 |
14-105408534-C-A |
c.13254G>T |
p.T4418= |
Synonymous |
7/7 |
- |
2 |
14-105408534-C-G |
c.13254G>C |
p.T4418= |
Synonymous |
7/7 |
- |
1 |
14-105408534-C-T |
c.13254G>A |
p.T4418= |
Synonymous |
7/7 |
- |
2 |
14-105408535-G-A |
c.13253C>T |
p.T4418M |
Missense |
7/7 |
- |
6 |
14-105408535-G-T |
c.13253C>A |
p.T4418K |
Missense |
7/7 |
- |
1 |
14-105408536-T-C |
c.13252A>G |
p.T4418A |
Missense |
7/7 |
- |
3 |
14-105408540-C-T |
c.13248G>A |
p.E4416= |
Synonymous |
7/7 |
- |
1 |
14-105408545-C-T |
c.13243G>A |
p.V4415M |
Missense |
7/7 |
- |
2 |
14-105408546-C-T |
c.13242G>A |
p.K4414= |
Synonymous |
7/7 |
- |
2 |
14-105408551-G-T |
c.13237C>A |
p.P4413T |
Missense |
7/7 |
- |
1 |
14-105408553-C-A |
c.13235G>T |
p.G4412V |
Missense |
7/7 |
- |
2 |
14-105408554-C-T |
c.13234G>A |
p.G4412S |
Missense |
7/7 |
- |
2 |
14-105408558-C-A |
c.13230G>T |
p.L4410= |
Synonymous |
7/7 |
- |
1 |
14-105408558-C-G |
c.13230G>C |
p.L4410= |
Synonymous |
7/7 |
- |
1 |
14-105408558-C-T |
c.13230G>A |
p.L4410= |
Synonymous |
7/7 |
- |
1 |
14-105408560-G-A |
c.13228C>T |
p.L4410= |
Synonymous |
7/7 |
- |
1 |
14-105408571-G-A |
c.13217C>T |
p.P4406L |
Missense |
7/7 |
- |
4 |
14-105408573-G-A |
c.13215C>T |
p.V4405= |
Synonymous |
7/7 |
- |
1 |
14-105408582-G-C |
c.13206C>G |
p.D4402E |
Missense |
7/7 |
- |
2 |
14-105408582-G-T |
c.13206C>A |
p.D4402E |
Missense |
7/7 |
- |
1 |
14-105408588-C-T |
c.13200G>A |
p.Q4400= |
Synonymous |
7/7 |
- |
2 |
14-105408592-G-A |
c.13196C>T |
p.P4399L |
Missense |
7/7 |
- |
1 |
14-105408595-C-A |
c.13193G>T |
p.G4398V |
Missense |
7/7 |
- |
1 |
14-105408595-C-T |
c.13193G>A |
p.G4398D |
Missense |
7/7 |
- |
1 |
14-105408602-G-A |
c.13186C>T |
p.L4396F |
Missense |
7/7 |
- |
2 |
14-105408603-G-C |
c.13185C>G |
p.D4395E |
Missense |
7/7 |
- |
2 |
14-105408603-G-T |
c.13185C>A |
p.D4395E |
Missense |
7/7 |
- |
2 |
14-105408615-T-C |
c.13173A>G |
p.V4391= |
Synonymous |
7/7 |
- |
1 |
14-105408618-C-A |
c.13170G>T |
p.K4390N |
Missense |
7/7 |
- |
3 |
14-105408618-C-G |
c.13170G>C |
p.K4390N |
Missense |
7/7 |
- |
1 |
14-105408621-G-C |
c.13167C>G |
p.F4389L |
Missense |
7/7 |
- |
1 |
14-105408633-C-T |
c.13155G>A |
p.Q4385= |
Synonymous |
7/7 |
- |
5 |
14-105408638-G-C |
c.13150C>G |
p.L4384V |
Missense |
7/7 |
- |
1 |
14-105408642-C-G |
c.13146G>C |
p.P4382= |
Synonymous |
7/7 |
- |
1 |
14-105408642-C-T |
c.13146G>A |
p.P4382= |
Synonymous |
7/7 |
- |
4 |
14-105408643-G-A |
c.13145C>T |
p.P4382L |
Missense |
7/7 |
- |
1 |
14-105408644-G-A |
c.13144C>T |
p.P4382S |
Missense |
7/7 |
- |
1 |
14-105408652-C-T |
c.13136G>A |
p.G4379E |
Missense |
7/7 |
- |
2 |
14-105408653-C-T |
c.13135G>A |
p.G4379R |
Missense |
7/7 |
- |
1 |
14-105408661-C-T |
c.13127G>A |
p.G4376D |
Missense |
7/7 |
- |
1 |
14-105408663-G-A |
c.13125C>T |
p.A4375= |
Synonymous |
7/7 |
- |
2 |
14-105408663-G-C |
c.13125C>G |
p.A4375= |
Synonymous |
7/7 |
- |
2 |
14-105408663-G-T |
c.13125C>A |
p.A4375= |
Synonymous |
7/7 |
- |
2 |
14-105408667-C-T |
c.13121G>A |
p.G4374E |
Missense |
7/7 |
- |
1 |
14-105408671-C-T |
c.13117G>A |
p.E4373K |
Missense |
7/7 |
- |
1 |
14-105408676-A-G |
c.13112T>C |
p.V4371A |
Missense |
7/7 |
- |
3 |
14-105408677-C-T |
c.13111G>A |
p.V4371M |
Missense |
7/7 |
- |
1 |
14-105408684-C-G |
c.13104G>C |
p.E4368D |
Missense |
7/7 |
- |
1 |
14-105408684-C-T |
c.13104G>A |
p.E4368= |
Synonymous |
7/7 |
- |
1 |
14-105408686-C-G |
c.13102G>C |
p.E4368Q |
Missense |
7/7 |
- |
1 |
14-105408689-G-A |
c.13099C>T |
p.P4367S |
Missense |
7/7 |
- |
2 |
14-105408699-A-G |
c.13089T>C |
p.D4363= |
Synonymous |
7/7 |
- |
2 |
14-105408700-T-A |
c.13088A>T |
p.D4363V |
Missense |
7/7 |
- |
6 |
14-105408709-C-A |
c.13079G>T |
p.G4360V |
Missense |
7/7 |
- |
1 |
14-105408713-C-G |
c.13075G>C |
p.A4359P |
Missense |
7/7 |
- |
1 |
14-105408726-A-G |
c.13062T>C |
p.D4354= |
Synonymous |
7/7 |
- |
3 |
14-105408728-C-T |
c.13060G>A |
p.D4354N |
Missense |
7/7 |
- |
1 |
14-105408729-A-G |
c.13059T>C |
p.A4353= |
Synonymous |
7/7 |
- |
1 |
14-105408729-A-T |
c.13059T>A |
p.A4353= |
Synonymous |
7/7 |
- |
1 |
14-105408731-C-T |
c.13057G>A |
p.A4353T |
Missense |
7/7 |
- |
7 |
14-105408740-G-A |
c.13048C>T |
p.P4350S |
Missense |
7/7 |
- |
1 |
14-105408742-T-A |
c.13046A>T |
p.Q4349L |
Missense |
7/7 |
- |
1 |
14-105408746-T-C |
c.13042A>G |
p.I4348V |
Missense |
7/7 |
- |
1 |
14-105408747-G-T |
c.13041C>A |
p.S4347R |
Missense |
7/7 |
- |
1 |
14-105408750-G-A |
c.13038C>T |
p.L4346= |
Synonymous |
7/7 |
- |
2 |
14-105408750-G-C |
c.13038C>G |
p.L4346= |
Synonymous |
7/7 |
- |
2 |
14-105408750-G-T |
c.13038C>A |
p.L4346= |
Synonymous |
7/7 |
- |
2 |
14-105408755-G-C |
c.13033C>G |
p.H4345D |
Missense |
7/7 |
- |
2 |
14-105408760-G-A |
c.13028C>T |
p.T4343I |
Missense |
7/7 |
- |
1 |
14-105408763-T-C |
c.13025A>G |
p.K4342R |
Missense |
7/7 |
- |
3 |
14-105408765-C-G |
c.13023G>C |
p.L4341= |
Synonymous |
7/7 |
- |
1 |
14-105408770-C-T |
c.13018G>A |
p.D4340N |
Missense |
7/7 |
- |
2 |
14-105408778-A-G |
c.13010T>C |
p.M4337T |
Missense |
7/7 |
- |
1 |
14-105408780-G-A |
c.13008C>T |
p.S4336= |
Synonymous |
7/7 |
- |
4 |
14-105408781-G-A |
c.13007C>T |
p.S4336F |
Missense |
7/7 |
- |
6 |
14-105408786-G-A |
c.13002C>T |
p.L4334= |
Synonymous |
7/7 |
- |
2 |
14-105408786-G-C |
c.13002C>G |
p.L4334= |
Synonymous |
7/7 |
- |
1 |
14-105408786-G-T |
c.13002C>A |
p.L4334= |
Synonymous |
7/7 |
- |
1 |
14-105408788-G-A |
c.13000C>T |
p.L4334F |
Missense |
7/7 |
- |
1 |
14-105408794-C-G |
c.12994G>C |
p.V4332L |
Missense |
7/7 |
- |
1 |
14-105408794-C-T |
c.12994G>A |
p.V4332M |
Missense |
7/7 |
- |
1 |
14-105408795-G-C |
c.12993C>G |
p.D4331E |
Missense |
7/7 |
- |
2 |
14-105408795-G-T |
c.12993C>A |
p.D4331E |
Missense |
7/7 |
- |
2 |
14-105408797-C-T |
c.12991G>A |
p.D4331N |
Missense |
7/7 |
- |
1 |
14-105408798-A-G |
c.12990T>C |
p.A4330= |
Synonymous |
7/7 |
- |
2 |
14-105408799-G-A |
c.12989C>T |
p.A4330V |
Missense |
7/7 |
- |
2 |
14-105408803-C-T |
c.12985G>A |
p.E4329K |
Missense |
7/7 |
- |
1 |
14-105408805-A-G |
c.12983T>C |
p.V4328A |
Missense |
7/7 |
- |
7 |
14-105408806-C-T |
c.12982G>A |
p.V4328M |
Missense |
7/7 |
- |
2 |
14-105408810-C-A |
c.12978G>T |
p.L4326= |
Synonymous |
7/7 |
- |
3 |
14-105408810-C-G |
c.12978G>C |
p.L4326= |
Synonymous |
7/7 |
- |
3 |
14-105408810-C-T |
c.12978G>A |
p.L4326= |
Synonymous |
7/7 |
- |
4 |
14-105408812-G-A |
c.12976C>T |
p.L4326= |
Synonymous |
7/7 |
- |
3 |
14-105408811-A-G |
c.12977T>C |
p.L4326P |
Missense |
7/7 |
- |
26 |
14-105408811-CAGCGCAGACACATCCAACGAGGCCTCGATGGACTTGCCT-C |
c.12939_12977del |
p.G4314_L4326del |
InFrameDeletion |
7/7 |
- |
1 |
14-105408814-G-A |
c.12974C>T |
p.A4325V |
Missense |
7/7 |
- |
1 |
14-105408815-C-A |
c.12973G>T |
p.A4325S |
Missense |
7/7 |
- |
1 |
14-105408827-A-C |
c.12961T>G |
p.L4321V |
Missense |
7/7 |
- |
22 |
14-105408827-A-G |
c.12961T>C |
p.L4321= |
Synonymous |
7/7 |
- |
5 |
14-105408827-A-T |
c.12961T>A |
p.L4321M |
Missense |
7/7 |
- |
4 |
14-105408828-C-A |
c.12960G>T |
p.S4320= |
Synonymous |
7/7 |
- |
1 |
14-105408828-C-G |
c.12960G>C |
p.S4320= |
Synonymous |
7/7 |
- |
1 |
14-105408828-C-T |
c.12960G>A |
p.S4320= |
Synonymous |
7/7 |
- |
1 |
14-105408829-G-A |
c.12959C>T |
p.S4320L |
Missense |
7/7 |
- |
4 |
14-105408835-T-G |
c.12953A>C |
p.E4318A |
Missense |
7/7 |
- |
1 |
14-105408836-C-T |
c.12952G>A |
p.E4318K |
Missense |
7/7 |
- |
3 |
14-105408838-A-G |
c.12950T>C |
p.I4317T |
Missense |
7/7 |
- |
1 |
14-105408844-T-C |
c.12944A>G |
p.K4315R |
Missense |
7/7 |
- |
2 |
14-105408846-G-C |
c.12942C>G |
p.G4314= |
Synonymous |
7/7 |
- |
1 |
14-105408854-C-T |
c.12934G>A |
p.A4312T |
Missense |
7/7 |
- |
1 |
14-105408857-A-C |
c.12931T>G |
p.S4311A |
Missense |
7/7 |
- |
1 |
14-105408859-A-G |
c.12929T>C |
p.V4310A |
Missense |
7/7 |
- |
2 |
14-105408861-C-A |
c.12927G>T |
p.G4309= |
Synonymous |
7/7 |
- |
1 |
14-105408861-C-G |
c.12927G>C |
p.G4309= |
Synonymous |
7/7 |
- |
1 |
14-105408861-C-T |
c.12927G>A |
p.G4309= |
Synonymous |
7/7 |
- |
1 |
14-105408863-C-A |
c.12925G>T |
p.G4309W |
Missense |
7/7 |
- |
1 |
14-105408863-C-G |
c.12925G>C |
p.G4309R |
Missense |
7/7 |
- |
2 |
14-105408863-C-T |
c.12925G>A |
p.G4309R |
Missense |
7/7 |
- |
2 |
14-105408864-G-A |
c.12924C>T |
p.F4308= |
Synonymous |
7/7 |
- |
1 |
14-105408868-G-A |
c.12920C>T |
p.S4307L |
Missense |
7/7 |
- |
2 |
14-105408871-G-A |
c.12917C>T |
p.P4306L |
Missense |
7/7 |
- |
1 |
14-105408872-G-A |
c.12916C>T |
p.P4306S |
Missense |
7/7 |
- |
3 |
14-105408882-C-A |
c.12906G>T |
p.K4302N |
Missense |
7/7 |
- |
1 |
14-105408882-C-G |
c.12906G>C |
p.K4302N |
Missense |
7/7 |
- |
1 |
14-105408882-C-T |
c.12906G>A |
p.K4302= |
Synonymous |
7/7 |
- |
1 |
14-105408885-G-A |
c.12903C>T |
p.P4301= |
Synonymous |
7/7 |
- |
1 |
14-105408887-G-A |
c.12901C>T |
p.P4301S |
Missense |
7/7 |
- |
1 |
14-105408898-T-C |
c.12890A>G |
p.K4297R |
Missense |
7/7 |
- |
1 |
14-105408909-G-A |
c.12879C>T |
p.A4293= |
Synonymous |
7/7 |
- |
1 |
14-105408910-G-A |
c.12878C>T |
p.A4293V |
Missense |
7/7 |
- |
1 |
14-105408917-T-C |
c.12871A>G |
p.M4291V |
Missense |
7/7 |
- |
2 |
14-105408918-G-A |
c.12870C>T |
p.D4290= |
Synonymous |
7/7 |
- |
1 |
14-105408919-T-G |
c.12869A>C |
p.D4290A |
Missense |
7/7 |
- |
1 |
14-105408926-C-A |
c.12862G>T |
p.D4288Y |
Missense |
7/7 |
- |
1 |
14-105408926-C-T |
c.12862G>A |
p.D4288N |
Missense |
7/7 |
- |
1 |
14-105408927-G-A |
c.12861C>T |
p.A4287= |
Synonymous |
7/7 |
- |
3 |
14-105408927-G-C |
c.12861C>G |
p.A4287= |
Synonymous |
7/7 |
- |
2 |
14-105408927-G-T |
c.12861C>A |
p.A4287= |
Synonymous |
7/7 |
- |
2 |
14-105408928-G-A |
c.12860C>T |
p.A4287V |
Missense |
7/7 |
- |
1 |
14-105408929-C-T |
c.12859G>A |
p.A4287T |
Missense |
7/7 |
- |
1 |
14-105408930-T-A |
c.12858A>T |
p.L4286= |
Synonymous |
7/7 |
- |
1 |
14-105408930-T-C |
c.12858A>G |
p.L4286= |
Synonymous |
7/7 |
- |
2 |
14-105408930-T-G |
c.12858A>C |
p.L4286= |
Synonymous |
7/7 |
- |
2 |
14-105408932-G-A |
c.12856C>T |
p.L4286= |
Synonymous |
7/7 |
- |
1 |
14-105408932-G-T |
c.12856C>A |
p.L4286I |
Missense |
7/7 |
- |
1 |
14-105408933-G-A |
c.12855C>T |
p.S4285= |
Synonymous |
7/7 |
- |
4 |
14-105408933-G-C |
c.12855C>G |
p.S4285= |
Synonymous |
7/7 |
- |
2 |
14-105408933-G-T |
c.12855C>A |
p.S4285= |
Synonymous |
7/7 |
- |
2 |
14-105408938-G-C |
c.12850C>G |
p.L4284V |
Missense |
7/7 |
- |
1 |
14-105408942-A-C |
c.12846T>G |
p.G4282= |
Synonymous |
7/7 |
- |
1 |
14-105408943-C-A |
c.12845G>T |
p.G4282V |
Missense |
7/7 |
- |
1 |
14-105408952-C-T |
c.12836G>A |
p.R4279Q |
Missense |
7/7 |
- |
3 |
14-105408953-G-A |
c.12835C>T |
p.R4279W |
Missense |
7/7 |
- |
5 |
14-105408954-C-A |
c.12834G>T |
p.V4278= |
Synonymous |
7/7 |
- |
1 |
14-105408954-C-G |
c.12834G>C |
p.V4278= |
Synonymous |
7/7 |
- |
1 |
14-105408954-C-T |
c.12834G>A |
p.V4278= |
Synonymous |
7/7 |
- |
1 |
14-105408955-A-G |
c.12833T>C |
p.V4278A |
Missense |
7/7 |
- |
30 |
14-105408955-A-T |
c.12833T>A |
p.V4278E |
Missense |
7/7 |
- |
6 |
14-105408973-C-G |
c.12815G>C |
p.G4272A |
Missense |
7/7 |
- |
1 |
14-105408975-C-A |
c.12813G>T |
p.P4271= |
Synonymous |
7/7 |
- |
2 |
14-105408975-C-G |
c.12813G>C |
p.P4271= |
Synonymous |
7/7 |
- |
1 |
14-105408975-C-T |
c.12813G>A |
p.P4271= |
Synonymous |
7/7 |
- |
1 |
14-105408977-G-A |
c.12811C>T |
p.P4271S |
Missense |
7/7 |
- |
2 |
14-105408983-C-T |
c.12805G>A |
p.E4269K |
Missense |
7/7 |
- |
4 |
14-105408984-G-A |
c.12804C>T |
p.V4268= |
Synonymous |
7/7 |
- |
1 |
14-105408987-G-A |
c.12801C>T |
p.D4267= |
Synonymous |
7/7 |
- |
4 |
14-105408988-T-C |
c.12800A>G |
p.D4267G |
Missense |
7/7 |
- |
1 |
14-105408989-C-T |
c.12799G>A |
p.D4267N |
Missense |
7/7 |
- |
1 |
14-105408990-CAC-GAT |
c.12796_12798delinsATC |
p.V4266I |
Missense |
7/7 |
- |
1 |
14-105408995-C-A |
c.12793G>T |
p.E4265* |
Nonsense |
7/7 |
- |
2 |
14-105409000-C-G |
c.12788G>C |
p.S4263T |
Missense |
7/7 |
- |
1 |
14-105409004-G-A |
c.12784C>T |
p.P4262S |
Missense |
7/7 |
- |
4 |
14-105409007-G-A |
c.12781C>T |
p.L4261= |
Synonymous |
7/7 |
- |
1 |
14-105409019-C-G |
c.12769G>C |
p.V4257L |
Missense |
7/7 |
- |
1 |
14-105409020-G-T |
c.12768C>A |
p.V4256= |
Synonymous |
7/7 |
- |
1 |
14-105409021-A-G |
c.12767T>C |
p.V4256A |
Missense |
7/7 |
- |
1 |
14-105409022-C-A |
c.12766G>T |
p.V4256F |
Missense |
7/7 |
- |
2 |
14-105409022-C-T |
c.12766G>A |
p.V4256I |
Missense |
7/7 |
- |
1 |
14-105409023-G-A |
c.12765C>T |
p.P4255= |
Synonymous |
7/7 |
- |
1 |
14-105409023-G-C |
c.12765C>G |
p.P4255= |
Synonymous |
7/7 |
- |
1 |
14-105409023-G-T |
c.12765C>A |
p.P4255= |
Synonymous |
7/7 |
- |
1 |
14-105409024-G-A |
c.12764C>T |
p.P4255L |
Missense |
7/7 |
- |
4 |
14-105409027-G-A |
c.12761C>T |
p.T4254I |
Missense |
7/7 |
- |
1 |
14-105409028-T-C |
c.12760A>G |
p.T4254A |
Missense |
7/7 |
- |
1 |
14-105409029-C-A |
c.12759G>T |
p.M4253I |
Missense |
7/7 |
- |
1 |
14-105409029-C-G |
c.12759G>C |
p.M4253I |
Missense |
7/7 |
- |
1 |
14-105409029-C-T |
c.12759G>A |
p.M4253I |
Missense |
7/7 |
- |
1 |
14-105409030-A-T |
c.12758T>A |
p.M4253K |
Missense |
7/7 |
- |
1 |
14-105409031-T-C |
c.12757A>G |
p.M4253V |
Missense |
7/7 |
- |
1 |
14-105409035-A-C |
c.12753T>G |
p.D4251E |
Missense |
7/7 |
- |
2 |
14-105409035-A-G |
c.12753T>C |
p.D4251= |
Synonymous |
7/7 |
- |
1 |
14-105409035-A-T |
c.12753T>A |
p.D4251E |
Missense |
7/7 |
- |
1 |
14-105409037-C-T |
c.12751G>A |
p.D4251N |
Missense |
7/7 |
- |
1 |
14-105409038-C-A |
c.12750G>T |
p.A4250= |
Synonymous |
7/7 |
- |
1 |
14-105409038-C-G |
c.12750G>C |
p.A4250= |
Synonymous |
7/7 |
- |
1 |
14-105409038-C-T |
c.12750G>A |
p.A4250= |
Synonymous |
7/7 |
- |
2 |
14-105409039-G-A |
c.12749C>T |
p.A4250V |
Missense |
7/7 |
- |
4 |
14-105409046-G-A |
c.12742C>T |
p.P4248S |
Missense |
7/7 |
- |
4 |
14-105409048-C-G |
c.12740G>C |
p.G4247A |
Missense |
7/7 |
- |
1 |
14-105409049-C-A |
c.12739G>T |
p.G4247C |
Missense |
7/7 |
- |
5 |
14-105409053-C-A |
c.12735G>T |
p.L4245= |
Synonymous |
7/7 |
- |
1 |
14-105409053-C-G |
c.12735G>C |
p.L4245= |
Synonymous |
7/7 |
- |
2 |
14-105409053-C-T |
c.12735G>A |
p.L4245= |
Synonymous |
7/7 |
- |
1 |
14-105409055-G-A |
c.12733C>T |
p.L4245= |
Synonymous |
7/7 |
- |
2 |
14-105409061-G-C |
c.12727C>G |
p.L4243V |
Missense |
7/7 |
- |
1 |
14-105409064-T-C |
c.12724A>G |
p.K4242E |
Missense |
7/7 |
- |
1 |
14-105409065-G-A |
c.12723C>T |
p.P4241= |
Synonymous |
7/7 |
- |
1 |
14-105409065-G-C |
c.12723C>G |
p.P4241= |
Synonymous |
7/7 |
- |
1 |
14-105409065-G-T |
c.12723C>A |
p.P4241= |
Synonymous |
7/7 |
- |
1 |
14-105409074-G-A |
c.12714C>T |
p.V4238= |
Synonymous |
7/7 |
- |
1 |
14-105409076-C-A |
c.12712G>T |
p.V4238F |
Missense |
7/7 |
- |
1 |
14-105409076-C-T |
c.12712G>A |
p.V4238I |
Missense |
7/7 |
- |
1 |
14-105409077-A-G |
c.12711T>C |
p.D4237= |
Synonymous |
7/7 |
- |
1 |
14-105409080-C-T |
c.12708G>A |
p.V4236= |
Synonymous |
7/7 |
- |
1 |
14-105409082-C-A |
c.12706G>T |
p.V4236L |
Missense |
7/7 |
- |
1 |
14-105409082-C-G |
c.12706G>C |
p.V4236L |
Missense |
7/7 |
- |
1 |
14-105409082-C-T |
c.12706G>A |
p.V4236M |
Missense |
7/7 |
- |
1 |
14-105409085-G-A |
c.12703C>T |
p.Q4235* |
Nonsense |
7/7 |
- |
1 |
14-105409085-G-T |
c.12703C>A |
p.Q4235K |
Missense |
7/7 |
- |
1 |
14-105409088-G-A |
c.12700C>T |
p.P4234S |
Missense |
7/7 |
- |
4 |
14-105409091-C-T |
c.12697G>A |
p.G4233S |
Missense |
7/7 |
- |
1 |
14-105409095-G-A |
c.12693C>T |
p.L4231= |
Synonymous |
7/7 |
- |
1 |
14-105409095-G-C |
c.12693C>G |
p.L4231= |
Synonymous |
7/7 |
- |
1 |
14-105409095-G-T |
c.12693C>A |
p.L4231= |
Synonymous |
7/7 |
- |
1 |
14-105409097-G-A |
c.12691C>T |
p.L4231F |
Missense |
7/7 |
- |
1 |
14-105409098-G-A |
c.12690C>T |
p.A4230= |
Synonymous |
7/7 |
- |
5 |
14-105409098-G-C |
c.12690C>G |
p.A4230= |
Synonymous |
7/7 |
- |
2 |
14-105409098-G-T |
c.12690C>A |
p.A4230= |
Synonymous |
7/7 |
- |
2 |
14-105409099-G-T |
c.12689C>A |
p.A4230D |
Missense |
7/7 |
- |
4 |
14-105409100-C-T |
c.12688G>A |
p.A4230T |
Missense |
7/7 |
- |
2 |
14-105409101-C-A |
c.12687G>T |
p.V4229= |
Synonymous |
7/7 |
- |
2 |
14-105409103-C-A |
c.12685G>T |
p.V4229L |
Missense |
7/7 |
- |
1 |
14-105409103-C-G |
c.12685G>C |
p.V4229L |
Missense |
7/7 |
- |
1 |
14-105409105-T-C |
c.12683A>G |
p.K4228R |
Missense |
7/7 |
- |
3 |
14-105409113-C-T |
c.12675G>A |
p.K4225= |
Synonymous |
7/7 |
- |
1 |
14-105409116-C-A |
c.12672G>T |
p.L4224F |
Missense |
7/7 |
- |
2 |
14-105409116-C-G |
c.12672G>C |
p.L4224F |
Missense |
7/7 |
- |
2 |
14-105409120-C-G |
c.12668G>C |
p.C4223S |
Missense |
7/7 |
- |
3 |
14-105409121-A-T |
c.12667T>A |
p.C4223S |
Missense |
7/7 |
- |
6 |
14-105409122-G-T |
c.12666C>A |
p.P4222= |
Synonymous |
7/7 |
- |
1 |
14-105409124-G-A |
c.12664C>T |
p.P4222S |
Missense |
7/7 |
- |
1 |
14-105409125-C-A |
c.12663G>T |
p.M4221I |
Missense |
7/7 |
- |
4 |
14-105409125-C-G |
c.12663G>C |
p.M4221I |
Missense |
7/7 |
- |
1 |
14-105409125-C-T |
c.12663G>A |
p.M4221I |
Missense |
7/7 |
- |
1 |
14-105409127-T-C |
c.12661A>G |
p.M4221V |
Missense |
7/7 |
- |
1 |
14-105409130-G-A |
c.12658C>T |
p.Q4220* |
Nonsense |
7/7 |
- |
1 |
14-105409132-A-C |
c.12656T>G |
p.V4219G |
Missense |
7/7 |
- |
1 |
14-105409133-C-T |
c.12655G>A |
p.V4219M |
Missense |
7/7 |
- |
1 |
14-105409140-G-A |
c.12648C>T |
p.L4216= |
Synonymous |
7/7 |
- |
3 |
14-105409140-G-C |
c.12648C>G |
p.L4216= |
Synonymous |
7/7 |
- |
4 |
14-105409140-G-T |
c.12648C>A |
p.L4216= |
Synonymous |
7/7 |
- |
2 |
14-105409143-G-A |
c.12645C>T |
p.H4215= |
Synonymous |
7/7 |
- |
1 |
14-105409144-T-C |
c.12644A>G |
p.H4215R |
Missense |
7/7 |
- |
1 |
14-105409146-C-A |
c.12642G>T |
p.G4214= |
Synonymous |
7/7 |
- |
1 |
14-105409146-C-G |
c.12642G>C |
p.G4214= |
Synonymous |
7/7 |
- |
1 |
14-105409146-C-T |
c.12642G>A |
p.G4214= |
Synonymous |
7/7 |
- |
1 |
14-105409147-C-T |
c.12641G>A |
p.G4214E |
Missense |
7/7 |
- |
2 |
14-105409149-T-A |
c.12639A>T |
p.K4213N |
Missense |
7/7 |
- |
1 |
14-105409149-T-G |
c.12639A>C |
p.K4213N |
Missense |
7/7 |
- |
1 |
14-105409151-T-A |
c.12637A>T |
p.K4213* |
Nonsense |
7/7 |
- |
1 |
14-105409152-G-A |
c.12636C>T |
p.L4212= |
Synonymous |
7/7 |
- |
2 |
14-105409157-C-T |
c.12631G>A |
p.G4211S |
Missense |
7/7 |
- |
1 |
14-105409159-G-A |
c.12629C>T |
p.A4210V |
Missense |
7/7 |
- |
2 |
14-105409162-C-T |
c.12626G>A |
p.G4209E |
Missense |
7/7 |
- |
1 |
14-105409163-C-G |
c.12625G>C |
p.G4209R |
Missense |
7/7 |
- |
1 |
14-105409163-C-T |
c.12625G>A |
p.G4209R |
Missense |
7/7 |
- |
1 |
14-105409165-T-G |
c.12623A>C |
p.K4208T |
Missense |
7/7 |
- |
1 |
14-105409166-T-C |
c.12622A>G |
p.K4208E |
Missense |
7/7 |
- |
2 |
14-105409172-G-C |
c.12616C>G |
p.L4206V |
Missense |
7/7 |
- |
3 |
14-105409171-AG-A |
c.12616del |
p.L4206Cfs*19 |
Frameshift |
7/7 |
- |
2 |
14-105409179-C-T |
c.12609G>A |
p.E4203= |
Synonymous |
7/7 |
- |
1 |
14-105409181-C-A |
c.12607G>T |
p.E4203* |
Nonsense |
7/7 |
- |
1 |
14-105409182-C-A |
c.12606G>T |
p.P4202= |
Synonymous |
7/7 |
- |
1 |
14-105409182-C-G |
c.12606G>C |
p.P4202= |
Synonymous |
7/7 |
- |
1 |
14-105409182-C-T |
c.12606G>A |
p.P4202= |
Synonymous |
7/7 |
- |
4 |
14-105409183-G-A |
c.12605C>T |
p.P4202L |
Missense |
7/7 |
- |
3 |
14-105409191-C-T |
c.12597G>A |
p.V4199= |
Synonymous |
7/7 |
- |
1 |
14-105409193-C-T |
c.12595G>A |
p.V4199M |
Missense |
7/7 |
- |
1 |
14-105409194-G-A |
c.12594C>T |
p.D4198= |
Synonymous |
7/7 |
- |
4 |
14-105409196-C-T |
c.12592G>A |
p.D4198N |
Missense |
7/7 |
- |
1 |
14-105409199-C-T |
c.12589G>A |
p.V4197M |
Missense |
7/7 |
- |
1 |
14-105409204-C-G |
c.12584G>C |
p.G4195A |
Missense |
7/7 |
- |
1 |
14-105409209-C-A |
c.12579G>T |
p.Q4193H |
Missense |
7/7 |
- |
2 |
14-105409209-C-G |
c.12579G>C |
p.Q4193H |
Missense |
7/7 |
- |
2 |
14-105409215-C-T |
c.12573G>A |
p.E4191= |
Synonymous |
7/7 |
- |
1 |
14-105409217-C-T |
c.12571G>A |
p.E4191K |
Missense |
7/7 |
- |
1 |
14-105409220-G-C |
c.12568C>G |
p.L4190V |
Missense |
7/7 |
- |
2 |
14-105409221-G-A |
c.12567C>T |
p.D4189= |
Synonymous |
7/7 |
- |
1 |
14-105409223-C-T |
c.12565G>A |
p.D4189N |
Missense |
7/7 |
- |
4 |
14-105409224-G-A |
c.12564C>T |
p.A4188= |
Synonymous |
7/7 |
- |
5 |
14-105409224-G-C |
c.12564C>G |
p.A4188= |
Synonymous |
7/7 |
- |
1 |
14-105409224-G-T |
c.12564C>A |
p.A4188= |
Synonymous |
7/7 |
- |
1 |
14-105409225-G-C |
c.12563C>G |
p.A4188G |
Missense |
7/7 |
- |
1 |
14-105409226-C-T |
c.12562G>A |
p.A4188T |
Missense |
7/7 |
- |
2 |
14-105409227-G-A |
c.12561C>T |
p.S4187= |
Synonymous |
7/7 |
- |
3 |
14-105409227-G-C |
c.12561C>G |
p.S4187= |
Synonymous |
7/7 |
- |
1 |
14-105409227-G-T |
c.12561C>A |
p.S4187= |
Synonymous |
7/7 |
- |
1 |
14-105409231-G-A |
c.12557C>T |
p.P4186L |
Missense |
7/7 |
- |
2 |
14-105409233-G-A |
c.12555C>T |
p.S4185= |
Synonymous |
7/7 |
- |
2 |
14-105409233-G-C |
c.12555C>G |
p.S4185= |
Synonymous |
7/7 |
- |
1 |
14-105409233-G-T |
c.12555C>A |
p.S4185= |
Synonymous |
7/7 |
- |
1 |
14-105409235-A-G |
c.12553T>C |
p.S4185P |
Missense |
7/7 |
- |
2 |
14-105409241-T-C |
c.12547A>G |
p.I4183V |
Missense |
7/7 |
- |
2 |
14-105409243-C-A |
c.12545G>T |
p.S4182I |
Missense |
7/7 |
- |
1 |
14-105409245-G-A |
c.12543C>T |
p.L4181= |
Synonymous |
7/7 |
- |
2 |
14-105409250-C-G |
c.12538G>C |
p.D4180H |
Missense |
7/7 |
- |
2 |
14-105409256-T-C |
c.12532A>G |
p.T4178A |
Missense |
7/7 |
- |
2 |
14-105409260-G-A |
c.12528C>T |
p.L4176= |
Synonymous |
7/7 |
- |
1 |
14-105409260-G-C |
c.12528C>G |
p.L4176= |
Synonymous |
7/7 |
- |
1 |
14-105409260-G-T |
c.12528C>A |
p.L4176= |
Synonymous |
7/7 |
- |
1 |
14-105409265-C-T |
c.12523G>A |
p.D4175N |
Missense |
7/7 |
- |
4 |
14-105409268-C-G |
c.12520G>C |
p.G4174R |
Missense |
7/7 |
- |
1 |
14-105409268-C-T |
c.12520G>A |
p.G4174R |
Missense |
7/7 |
- |
3 |
14-105409269-C-T |
c.12519G>A |
p.Q4173= |
Synonymous |
7/7 |
- |
2 |
14-105409275-G-A |
c.12513C>T |
p.S4171= |
Synonymous |
7/7 |
- |
2 |
14-105409278-G-A |
c.12510C>T |
p.P4170= |
Synonymous |
7/7 |
- |
1 |
14-105409278-G-C |
c.12510C>G |
p.P4170= |
Synonymous |
7/7 |
- |
1 |
14-105409278-G-T |
c.12510C>A |
p.P4170= |
Synonymous |
7/7 |
- |
1 |
14-105409279-G-A |
c.12509C>T |
p.P4170L |
Missense |
7/7 |
- |
1 |
14-105409281-G-A |
c.12507C>T |
p.L4169= |
Synonymous |
7/7 |
- |
3 |
14-105409282-A-T |
c.12506T>A |
p.L4169H |
Missense |
7/7 |
- |
1 |
14-105409284-G-A |
c.12504C>T |
p.S4168= |
Synonymous |
7/7 |
- |
1 |
14-105409289-C-T |
c.12499G>A |
p.V4167M |
Missense |
7/7 |
- |
4 |
14-105409290-G-A |
c.12498C>T |
p.D4166= |
Synonymous |
7/7 |
- |
2 |
14-105409292-C-T |
c.12496G>A |
p.D4166N |
Missense |
7/7 |
- |
2 |
14-105409293-G-A |
c.12495C>T |
p.A4165= |
Synonymous |
7/7 |
- |
1 |
14-105409299-C-T |
c.12489G>A |
p.A4163= |
Synonymous |
7/7 |
- |
1 |
14-105409300-G-A |
c.12488C>T |
p.A4163V |
Missense |
7/7 |
- |
3 |
14-105409300-G-T |
c.12488C>A |
p.A4163E |
Missense |
7/7 |
- |
1 |
14-105409316-C-A |
c.12472G>T |
p.V4158L |
Missense |
7/7 |
- |
1 |
14-105409316-C-G |
c.12472G>C |
p.V4158L |
Missense |
7/7 |
- |
1 |
14-105409316-C-T |
c.12472G>A |
p.V4158M |
Missense |
7/7 |
- |
1 |
14-105409318-T-C |
c.12470A>G |
p.D4157G |
Missense |
7/7 |
- |
1 |
14-105409324-G-A |
c.12464C>T |
p.S4155F |
Missense |
7/7 |
- |
1 |
14-105409326-C-A |
c.12462G>T |
p.A4154= |
Synonymous |
7/7 |
- |
2 |
14-105409326-C-G |
c.12462G>C |
p.A4154= |
Synonymous |
7/7 |
- |
2 |
14-105409326-C-T |
c.12462G>A |
p.A4154= |
Synonymous |
7/7 |
- |
2 |
14-105409327-G-A |
c.12461C>T |
p.A4154V |
Missense |
7/7 |
- |
2 |
14-105409328-C-T |
c.12460G>A |
p.A4154T |
Missense |
7/7 |
- |
3 |
14-105409333-A-G |
c.12455T>C |
p.M4152T |
Missense |
7/7 |
- |
1 |
14-105409334-T-G |
c.12454A>C |
p.M4152L |
Missense |
7/7 |
- |
1 |
14-105409343-C-T |
c.12445G>A |
p.G4149S |
Missense |
7/7 |
- |
2 |
14-105409347-G-A |
c.12441C>T |
p.A4147= |
Synonymous |
7/7 |
- |
3 |
14-105409348-G-A |
c.12440C>T |
p.A4147V |
Missense |
7/7 |
- |
1 |
14-105409350-C-A |
c.12438G>T |
p.S4146= |
Synonymous |
7/7 |
- |
1 |
14-105409351-G-A |
c.12437C>T |
p.S4146L |
Missense |
7/7 |
- |
1 |
14-105409354-A-G |
c.12434T>C |
p.V4145A |
Missense |
7/7 |
- |
1 |
14-105409355-C-A |
c.12433G>T |
p.V4145L |
Missense |
7/7 |
- |
1 |
14-105409355-C-T |
c.12433G>A |
p.V4145M |
Missense |
7/7 |
- |
2 |
14-105409357-C-T |
c.12431G>A |
p.G4144E |
Missense |
7/7 |
- |
1 |
14-105409358-C-A |
c.12430G>T |
p.G4144W |
Missense |
7/7 |
- |
1 |
14-105409359-G-A |
c.12429C>T |
p.F4143= |
Synonymous |
7/7 |
- |
8 |
14-105409362-T-C |
c.12426A>G |
p.S4142= |
Synonymous |
7/7 |
- |
1 |
14-105409365-T-A |
c.12423A>T |
p.P4141= |
Synonymous |
7/7 |
- |
1 |
14-105409365-T-C |
c.12423A>G |
p.P4141= |
Synonymous |
7/7 |
- |
3 |
14-105409365-T-G |
c.12423A>C |
p.P4141= |
Synonymous |
7/7 |
- |
3 |
14-105409377-C-T |
c.12411G>A |
p.K4137= |
Synonymous |
7/7 |
- |
2 |
14-105409380-G-A |
c.12408C>T |
p.P4136= |
Synonymous |
7/7 |
- |
1 |
14-105409382-G-A |
c.12406C>T |
p.P4136S |
Missense |
7/7 |
- |
1 |
14-105409384-A-G |
c.12404T>C |
p.M4135T |
Missense |
7/7 |
- |
1 |
14-105409389-GA-G |
c.12398del |
p.F4133Sfs*29 |
Frameshift |
7/7 |
- |
2 |
14-105409392-C-A |
c.12396G>T |
p.K4132N |
Missense |
7/7 |
- |
3 |
14-105409392-C-G |
c.12396G>C |
p.K4132N |
Missense |
7/7 |
- |
4 |
14-105409398-G-C |
c.12390C>G |
p.D4130E |
Missense |
7/7 |
- |
2 |
14-105409398-G-T |
c.12390C>A |
p.D4130E |
Missense |
7/7 |
- |
2 |
14-105409407-A-C |
c.12381T>G |
p.T4127= |
Synonymous |
7/7 |
- |
2 |
14-105409407-A-G |
c.12381T>C |
p.T4127= |
Synonymous |
7/7 |
- |
2 |
14-105409407-A-T |
c.12381T>A |
p.T4127= |
Synonymous |
7/7 |
- |
2 |
14-105409409-T-G |
c.12379A>C |
p.T4127P |
Missense |
7/7 |
- |
1 |
14-105409410-C-A |
c.12378G>T |
p.V4126= |
Synonymous |
7/7 |
- |
1 |
14-105409410-C-G |
c.12378G>C |
p.V4126= |
Synonymous |
7/7 |
- |
1 |
14-105409410-C-T |
c.12378G>A |
p.V4126= |
Synonymous |
7/7 |
- |
1 |
14-105409413-A-G |
c.12375T>C |
p.D4125= |
Synonymous |
7/7 |
- |
2 |
14-105409418-T-A |
c.12370A>T |
p.K4124* |
Nonsense |
7/7 |
- |
1 |
14-105409421-C-T |
c.12367G>A |
p.D4123N |
Missense |
7/7 |
- |
5 |
14-105409423-G-A |
c.12365C>T |
p.A4122V |
Missense |
7/7 |
- |
1 |
14-105409425-C-A |
c.12363G>T |
p.L4121= |
Synonymous |
7/7 |
- |
1 |
14-105409425-C-G |
c.12363G>C |
p.L4121= |
Synonymous |
7/7 |
- |
1 |
14-105409425-C-T |
c.12363G>A |
p.L4121= |
Synonymous |
7/7 |
- |
1 |
14-105409427-G-A |
c.12361C>T |
p.L4121= |
Synonymous |
7/7 |
- |
2 |
14-105409427-G-C |
c.12361C>G |
p.L4121V |
Missense |
7/7 |
- |
1 |
14-105409428-G-A |
c.12360C>T |
p.S4120= |
Synonymous |
7/7 |
- |
3 |
14-105409428-G-C |
c.12360C>G |
p.S4120= |
Synonymous |
7/7 |
- |
2 |
14-105409428-G-T |
c.12360C>A |
p.S4120= |
Synonymous |
7/7 |
- |
3 |
14-105409436-C-T |
c.12352G>A |
p.D4118N |
Missense |
7/7 |
- |
2 |
14-105409437-C-A |
c.12351G>T |
p.G4117= |
Synonymous |
7/7 |
- |
1 |
14-105409439-C-A |
c.12349G>T |
p.G4117W |
Missense |
7/7 |
- |
1 |
14-105409441-T-A |
c.12347A>T |
p.E4116V |
Missense |
7/7 |
- |
1 |
14-105409447-T-C |
c.12341A>G |
p.Q4114R |
Missense |
7/7 |
- |
1 |
14-105409448-G-A |
c.12340C>T |
p.Q4114* |
Nonsense |
7/7 |
- |
1 |
14-105409450-A-G |
c.12338T>C |
p.V4113A |
Missense |
7/7 |
- |
1 |
14-105409451-C-T |
c.12337G>A |
p.V4113M |
Missense |
7/7 |
- |
1 |
14-105409453-CC-AA |
c.12334_12335delinsTT |
p.G4112F |
Missense |
7/7 |
- |
7 |
14-105409453-C-G |
c.12335G>C |
p.G4112A |
Missense |
7/7 |
- |
1 |
14-105409457-C-T |
c.12331G>A |
p.D4111N |
Missense |
7/7 |
- |
3 |
14-105409464-T-A |
c.12324A>T |
p.A4108= |
Synonymous |
7/7 |
- |
1 |
14-105409464-T-C |
c.12324A>G |
p.A4108= |
Synonymous |
7/7 |
- |
1 |
14-105409464-T-G |
c.12324A>C |
p.A4108= |
Synonymous |
7/7 |
- |
1 |
14-105409466-C-T |
c.12322G>A |
p.A4108T |
Missense |
7/7 |
- |
1 |
14-105409468-C-G |
c.12320G>C |
p.R4107T |
Missense |
7/7 |
- |
1 |
14-105409470-C-A |
c.12318G>T |
p.P4106= |
Synonymous |
7/7 |
- |
2 |
14-105409470-C-G |
c.12318G>C |
p.P4106= |
Synonymous |
7/7 |
- |
2 |
14-105409470-C-T |
c.12318G>A |
p.P4106= |
Synonymous |
7/7 |
- |
2 |
14-105409472-G-C |
c.12316C>G |
p.P4106A |
Missense |
7/7 |
- |
1 |
14-105409472-G-T |
c.12316C>A |
p.P4106T |
Missense |
7/7 |
- |
3 |
14-105409473-G-T |
c.12315C>A |
p.A4105= |
Synonymous |
7/7 |
- |
1 |
14-105409477-T-C |
c.12311A>G |
p.Q4104R |
Missense |
7/7 |
- |
1 |
14-105409482-G-A |
c.12306C>T |
p.D4102= |
Synonymous |
7/7 |
- |
2 |
14-105409482-G-C |
c.12306C>G |
p.D4102E |
Missense |
7/7 |
- |
1 |
14-105409482-G-T |
c.12306C>A |
p.D4102E |
Missense |
7/7 |
- |
1 |
14-105409483-T-A |
c.12305A>T |
p.D4102V |
Missense |
7/7 |
- |
2 |
14-105409487-C-G |
c.12301G>C |
p.V4101L |
Missense |
7/7 |
- |
1 |
14-105409498-G-C |
c.12290C>G |
p.S4097C |
Missense |
7/7 |
- |
2 |
14-105409499-A-G |
c.12289T>C |
p.S4097P |
Missense |
7/7 |
- |
1 |
14-105409501-A-G |
c.12287T>C |
p.L4096P |
Missense |
7/7 |
- |
1 |
14-105409502-G-C |
c.12286C>G |
p.L4096V |
Missense |
7/7 |
- |
4 |
14-105409508-T-C |
c.12280A>G |
p.M4094V |
Missense |
7/7 |
- |
1 |
14-105409509-C-A |
c.12279G>T |
p.K4093N |
Missense |
7/7 |
- |
1 |
14-105409509-C-G |
c.12279G>C |
p.K4093N |
Missense |
7/7 |
- |
1 |
14-105409511-T-C |
c.12277A>G |
p.K4093E |
Missense |
7/7 |
- |
3 |
14-105409512-C-A |
c.12276G>T |
p.V4092= |
Synonymous |
7/7 |
- |
1 |
14-105409512-C-G |
c.12276G>C |
p.V4092= |
Synonymous |
7/7 |
- |
1 |
14-105409512-C-T |
c.12276G>A |
p.V4092= |
Synonymous |
7/7 |
- |
2 |
14-105409518-A-C |
c.12270T>G |
p.P4090= |
Synonymous |
7/7 |
- |
2 |
14-105409518-A-G |
c.12270T>C |
p.P4090= |
Synonymous |
7/7 |
- |
3 |
14-105409518-A-T |
c.12270T>A |
p.P4090= |
Synonymous |
7/7 |
- |
3 |
14-105409533-C-A |
c.12255G>T |
p.A4085= |
Synonymous |
7/7 |
- |
1 |
14-105409533-C-G |
c.12255G>C |
p.A4085= |
Synonymous |
7/7 |
- |
1 |
14-105409533-C-T |
c.12255G>A |
p.A4085= |
Synonymous |
7/7 |
- |
1 |
14-105409543-C-T |
c.12245G>A |
p.G4082D |
Missense |
7/7 |
- |
1 |
14-105409546-T-G |
c.12242A>C |
p.K4081T |
Missense |
7/7 |
- |
2 |
14-105409550-G-T |
c.12238C>A |
p.L4080M |
Missense |
7/7 |
- |
4 |
14-105409553-C-T |
c.12235G>A |
p.D4079N |
Missense |
7/7 |
- |
2 |
14-105409554-C-A |
c.12234G>T |
p.L4078= |
Synonymous |
7/7 |
- |
2 |
14-105409554-C-G |
c.12234G>C |
p.L4078= |
Synonymous |
7/7 |
- |
2 |
14-105409554-C-T |
c.12234G>A |
p.L4078= |
Synonymous |
7/7 |
- |
2 |
14-105409556-G-A |
c.12232C>T |
p.L4078= |
Synonymous |
7/7 |
- |
2 |
14-105409557-C-T |
c.12231G>A |
p.K4077= |
Synonymous |
7/7 |
- |
2 |
14-105409562-G-A |
c.12226C>T |
p.P4076S |
Missense |
7/7 |
- |
1 |
14-105409569-A-G |
c.12219T>C |
p.V4073= |
Synonymous |
7/7 |
- |
1 |
14-105409573-T-C |
c.12215A>G |
p.D4072G |
Missense |
7/7 |
- |
2 |
14-105409577-T-A |
c.12211A>T |
p.I4071L |
Missense |
7/7 |
- |
2 |
14-105409577-T-G |
c.12211A>C |
p.I4071L |
Missense |
7/7 |
- |
2 |
14-105409578-C-T |
c.12210G>A |
p.Q4070= |
Synonymous |
7/7 |
- |
1 |
14-105409584-G-A |
c.12204C>T |
p.G4068= |
Synonymous |
7/7 |
- |
1 |
14-105409584-G-C |
c.12204C>G |
p.G4068= |
Synonymous |
7/7 |
- |
1 |
14-105409584-G-T |
c.12204C>A |
p.G4068= |
Synonymous |
7/7 |
- |
1 |
14-105409588-T-A |
c.12200A>T |
p.K4067M |
Missense |
7/7 |
- |
1 |
14-105409593-G-A |
c.12195C>T |
p.D4065= |
Synonymous |
7/7 |
- |
1 |
14-105409594-T-C |
c.12194A>G |
p.D4065G |
Missense |
7/7 |
- |
3 |
14-105409595-C-T |
c.12193G>A |
p.D4065N |
Missense |
7/7 |
- |
4 |
14-105409596-C-G |
c.12192G>C |
p.V4064= |
Synonymous |
7/7 |
- |
2 |
14-105409596-C-T |
c.12192G>A |
p.V4064= |
Synonymous |
7/7 |
- |
1 |
14-105409598-C-T |
c.12190G>A |
p.V4064M |
Missense |
7/7 |
- |
2 |
14-105409599-T-C |
c.12189A>G |
p.K4063= |
Synonymous |
7/7 |
- |
1 |
14-105409601-T-C |
c.12187A>G |
p.K4063E |
Missense |
7/7 |
- |
2 |
14-105409602-G-A |
c.12186C>T |
p.P4062= |
Synonymous |
7/7 |
- |
3 |
14-105409602-G-C |
c.12186C>G |
p.P4062= |
Synonymous |
7/7 |
- |
3 |
14-105409602-G-T |
c.12186C>A |
p.P4062= |
Synonymous |
7/7 |
- |
3 |
14-105409606-A-T |
c.12182T>A |
p.M4061K |
Missense |
7/7 |
- |
1 |
14-105409607-T-A |
c.12181A>T |
p.M4061L |
Missense |
7/7 |
- |
1 |
14-105409607-T-C |
c.12181A>G |
p.M4061V |
Missense |
7/7 |
- |
1 |
14-105409607-T-G |
c.12181A>C |
p.M4061L |
Missense |
7/7 |
- |
1 |
14-105409608-C-A |
c.12180G>T |
p.K4060N |
Missense |
7/7 |
- |
2 |
14-105409608-C-G |
c.12180G>C |
p.K4060N |
Missense |
7/7 |
- |
2 |
14-105409614-A-G |
c.12174T>C |
p.S4058= |
Synonymous |
7/7 |
- |
1 |
14-105409616-T-C |
c.12172A>G |
p.S4058G |
Missense |
7/7 |
- |
1 |
14-105409622-T-C |
c.12166A>G |
p.M4056V |
Missense |
7/7 |
- |
1 |
14-105409623-C-A |
c.12165G>T |
p.Q4055H |
Missense |
7/7 |
- |
1 |
14-105409623-C-G |
c.12165G>C |
p.Q4055H |
Missense |
7/7 |
- |
1 |
14-105409627-A-C |
c.12161T>G |
p.V4054G |
Missense |
7/7 |
- |
3 |
14-105409628-C-A |
c.12160G>T |
p.V4054L |
Missense |
7/7 |
- |
1 |
14-105409628-C-G |
c.12160G>C |
p.V4054L |
Missense |
7/7 |
- |
2 |
14-105409629-C-A |
c.12159G>T |
p.K4053N |
Missense |
7/7 |
- |
1 |
14-105409629-C-G |
c.12159G>C |
p.K4053N |
Missense |
7/7 |
- |
1 |
14-105409638-G-A |
c.12150C>T |
p.H4050= |
Synonymous |
7/7 |
- |
1 |
14-105409641-C-T |
c.12147G>A |
p.G4049= |
Synonymous |
7/7 |
- |
2 |
14-105409647-G-A |
c.12141C>T |
p.L4047= |
Synonymous |
7/7 |
- |
1 |
14-105409647-G-C |
c.12141C>G |
p.L4047= |
Synonymous |
7/7 |
- |
1 |
14-105409647-G-T |
c.12141C>A |
p.L4047= |
Synonymous |
7/7 |
- |
1 |
14-105409648-A-ATT |
c.12139_12140insAA |
p.L4047Qfs*26 |
Frameshift |
7/7 |
- |
1 |
14-105409650-G-A |
c.12138C>T |
p.S4046= |
Synonymous |
7/7 |
- |
1 |
14-105409650-G-GTT |
c.12137_12138insAA |
p.S4046Rfs*27 |
Frameshift |
7/7 |
- |
1 |
14-105409651-C-T |
c.12137G>A |
p.S4046N |
Missense |
7/7 |
- |
1 |
14-105409652-T-C |
c.12136A>G |
p.S4046G |
Missense |
7/7 |
- |
6 |
14-105409654-G-T |
c.12134C>A |
p.A4045D |
Missense |
7/7 |
- |
1 |
14-105409655-C-T |
c.12133G>A |
p.A4045T |
Missense |
7/7 |
- |
1 |
14-105409656-T-A |
c.12132A>T |
p.G4044= |
Synonymous |
7/7 |
- |
2 |
14-105409656-T-C |
c.12132A>G |
p.G4044= |
Synonymous |
7/7 |
- |
1 |
14-105409656-T-G |
c.12132A>C |
p.G4044= |
Synonymous |
7/7 |
- |
1 |
14-105409657-C-A |
c.12131G>T |
p.G4044V |
Missense |
7/7 |
- |
2 |
14-105409657-C-T |
c.12131G>A |
p.G4044E |
Missense |
7/7 |
- |
3 |
14-105409660-T-A |
c.12128A>T |
p.E4043V |
Missense |
7/7 |
- |
1 |
14-105409661-C-T |
c.12127G>A |
p.E4043K |
Missense |
7/7 |
- |
1 |
14-105409663-G-A |
c.12125C>T |
p.P4042L |
Missense |
7/7 |
- |
1 |
14-105409664-G-A |
c.12124C>T |
p.P4042S |
Missense |
7/7 |
- |
1 |
14-105409667-C-T |
c.12121G>A |
p.V4041M |
Missense |
7/7 |
- |
6 |
14-105409668-G-A |
c.12120C>T |
p.P4040= |
Synonymous |
7/7 |
- |
2 |
14-105409668-G-C |
c.12120C>G |
p.P4040= |
Synonymous |
7/7 |
- |
1 |
14-105409668-G-T |
c.12120C>A |
p.P4040= |
Synonymous |
7/7 |
- |
1 |
14-105409673-C-G |
c.12115G>C |
p.G4039R |
Missense |
7/7 |
- |
1 |
14-105409674-C-A |
c.12114G>T |
p.E4038D |
Missense |
7/7 |
- |
1 |
14-105409674-C-G |
c.12114G>C |
p.E4038D |
Missense |
7/7 |
- |
2 |
14-105409675-T-C |
c.12113A>G |
p.E4038G |
Missense |
7/7 |
- |
1 |
14-105409677-T-A |
c.12111A>T |
p.P4037= |
Synonymous |
7/7 |
- |
2 |
14-105409677-T-C |
c.12111A>G |
p.P4037= |
Synonymous |
7/7 |
- |
2 |
14-105409677-T-G |
c.12111A>C |
p.P4037= |
Synonymous |
7/7 |
- |
2 |
14-105409678-G-A |
c.12110C>T |
p.P4037L |
Missense |
7/7 |
- |
2 |
14-105409680-G-A |
c.12108C>T |
p.L4036= |
Synonymous |
7/7 |
- |
4 |
14-105409680-G-C |
c.12108C>G |
p.L4036= |
Synonymous |
7/7 |
- |
3 |
14-105409680-G-T |
c.12108C>A |
p.L4036= |
Synonymous |
7/7 |
- |
3 |
14-105409689-G-A |
c.12099C>T |
p.D4033= |
Synonymous |
7/7 |
- |
4 |
14-105409689-G-T |
c.12099C>A |
p.D4033E |
Missense |
7/7 |
- |
2 |
14-105409701-A-C |
c.12087T>G |
p.A4029= |
Synonymous |
7/7 |
- |
1 |
14-105409701-A-G |
c.12087T>C |
p.A4029= |
Synonymous |
7/7 |
- |
1 |
14-105409701-A-T |
c.12087T>A |
p.A4029= |
Synonymous |
7/7 |
- |
1 |
14-105409707-G-A |
c.12081C>T |
p.V4027= |
Synonymous |
7/7 |
- |
2 |
14-105409709-C-A |
c.12079G>T |
p.V4027F |
Missense |
7/7 |
- |
1 |
14-105409712-C-A |
c.12076G>T |
p.E4026* |
Nonsense |
7/7 |
- |
2 |
14-105409712-C-G |
c.12076G>C |
p.E4026Q |
Missense |
7/7 |
- |
1 |
14-105409712-C-T |
c.12076G>A |
p.E4026K |
Missense |
7/7 |
- |
1 |
14-105409721-C-A |
c.12067G>T |
p.A4023S |
Missense |
7/7 |
- |
1 |
14-105409721-C-G |
c.12067G>C |
p.A4023P |
Missense |
7/7 |
- |
1 |
14-105409721-C-T |
c.12067G>A |
p.A4023T |
Missense |
7/7 |
- |
2 |
14-105409722-G-A |
c.12066C>T |
p.S4022= |
Synonymous |
7/7 |
- |
5 |
14-105409722-G-C |
c.12066C>G |
p.S4022= |
Synonymous |
7/7 |
- |
4 |
14-105409722-G-T |
c.12066C>A |
p.S4022= |
Synonymous |
7/7 |
- |
4 |
14-105409727-G-A |
c.12061C>T |
p.P4021S |
Missense |
7/7 |
- |
3 |
14-105409728-G-A |
c.12060C>T |
p.P4020= |
Synonymous |
7/7 |
- |
1 |
14-105409728-G-C |
c.12060C>G |
p.P4020= |
Synonymous |
7/7 |
- |
1 |
14-105409728-G-T |
c.12060C>A |
p.P4020= |
Synonymous |
7/7 |
- |
1 |
14-105409729-G-A |
c.12059C>T |
p.P4020L |
Missense |
7/7 |
- |
1 |
14-105409730-G-A |
c.12058C>T |
p.P4020S |
Missense |
7/7 |
- |
1 |
14-105409733-G-A |
c.12055C>T |
p.Q4019* |
Nonsense |
7/7 |
- |
1 |
14-105409734-A-C |
c.12054T>G |
p.V4018= |
Synonymous |
7/7 |
- |
1 |
14-105409734-A-G |
c.12054T>C |
p.V4018= |
Synonymous |
7/7 |
- |
1 |
14-105409734-A-T |
c.12054T>A |
p.V4018= |
Synonymous |
7/7 |
- |
1 |
14-105409736-C-T |
c.12052G>A |
p.V4018I |
Missense |
7/7 |
- |
1 |
14-105409740-G-A |
c.12048C>T |
p.L4016= |
Synonymous |
7/7 |
- |
1 |
14-105409740-G-C |
c.12048C>G |
p.L4016= |
Synonymous |
7/7 |
- |
1 |
14-105409740-G-T |
c.12048C>A |
p.L4016= |
Synonymous |
7/7 |
- |
1 |
14-105409742-G-T |
c.12046C>A |
p.L4016I |
Missense |
7/7 |
- |
3 |
14-105409745-C-T |
c.12043G>A |
p.D4015N |
Missense |
7/7 |
- |
1 |
14-105409750-G-A |
c.12038C>T |
p.A4013V |
Missense |
7/7 |
- |
2 |
14-105409751-C-T |
c.12037G>A |
p.A4013T |
Missense |
7/7 |
- |
1 |
14-105409761-C-T |
c.12027G>A |
p.G4009= |
Synonymous |
7/7 |
- |
1 |
14-105409762-C-T |
c.12026G>A |
p.G4009E |
Missense |
7/7 |
- |
1 |
14-105409763-C-G |
c.12025G>C |
p.G4009R |
Missense |
7/7 |
- |
1 |
14-105409763-C-T |
c.12025G>A |
p.G4009R |
Missense |
7/7 |
- |
1 |
14-105409764-C-A |
c.12024G>T |
p.Q4008H |
Missense |
7/7 |
- |
1 |
14-105409773-A-C |
c.12015T>G |
p.P4005= |
Synonymous |
7/7 |
- |
1 |
14-105409773-A-G |
c.12015T>C |
p.P4005= |
Synonymous |
7/7 |
- |
2 |
14-105409773-A-T |
c.12015T>A |
p.P4005= |
Synonymous |
7/7 |
- |
1 |
14-105409775-G-A |
c.12013C>T |
p.P4005S |
Missense |
7/7 |
- |
3 |
14-105409780-C-G |
c.12008G>C |
p.S4003T |
Missense |
7/7 |
- |
1 |
14-105409784-C-T |
c.12004G>A |
p.V4002M |
Missense |
7/7 |
- |
4 |
14-105409788-G-A |
c.12000C>T |
p.A4000= |
Synonymous |
7/7 |
- |
2 |
14-105409788-G-C |
c.12000C>G |
p.A4000= |
Synonymous |
7/7 |
- |
2 |
14-105409788-G-T |
c.12000C>A |
p.A4000= |
Synonymous |
7/7 |
- |
2 |
14-105409794-CAC-AAA |
c.11992_11994delinsTTT |
p.V3998F |
Missense |
7/7 |
- |
1 |
14-105409800-T-A |
c.11988A>T |
p.P3996= |
Synonymous |
7/7 |
- |
2 |
14-105409800-T-C |
c.11988A>G |
p.P3996= |
Synonymous |
7/7 |
- |
2 |
14-105409800-T-G |
c.11988A>C |
p.P3996= |
Synonymous |
7/7 |
- |
2 |
14-105409804-G-A |
c.11984C>T |
p.A3995V |
Missense |
7/7 |
- |
1 |
14-105409805-C-T |
c.11983G>A |
p.A3995T |
Missense |
7/7 |
- |
5 |
14-105409806-G-A |
c.11982C>T |
p.T3994= |
Synonymous |
7/7 |
- |
4 |
14-105409806-G-C |
c.11982C>G |
p.T3994= |
Synonymous |
7/7 |
- |
4 |
14-105409806-G-T |
c.11982C>A |
p.T3994= |
Synonymous |
7/7 |
- |
4 |
14-105409807-G-C |
c.11981C>G |
p.T3994S |
Missense |
7/7 |
- |
2 |
14-105409808-T-A |
c.11980A>T |
p.T3994S |
Missense |
7/7 |
- |
2 |
14-105409819-G-A |
c.11969C>T |
p.S3990L |
Missense |
7/7 |
- |
1 |
14-105409820-A-G |
c.11968T>C |
p.S3990P |
Missense |
7/7 |
- |
1 |
14-105409823-C-T |
c.11965G>A |
p.A3989T |
Missense |
7/7 |
- |
1 |
14-105409826-C-A |
c.11962G>T |
p.E3988* |
Nonsense |
7/7 |
- |
1 |
14-105409827-C-A |
c.11961G>T |
p.M3987I |
Missense |
7/7 |
- |
2 |
14-105409827-C-G |
c.11961G>C |
p.M3987I |
Missense |
7/7 |
- |
3 |
14-105409827-C-T |
c.11961G>A |
p.M3987I |
Missense |
7/7 |
- |
2 |
14-105409830-G-A |
c.11958C>T |
p.S3986= |
Synonymous |
7/7 |
- |
3 |
14-105409830-G-C |
c.11958C>G |
p.S3986= |
Synonymous |
7/7 |
- |
1 |
14-105409830-G-T |
c.11958C>A |
p.S3986= |
Synonymous |
7/7 |
- |
1 |
14-105409831-G-A |
c.11957C>T |
p.S3986F |
Missense |
7/7 |
- |
2 |
14-105409832-A-G |
c.11956T>C |
p.S3986P |
Missense |
7/7 |
- |
1 |
14-105409837-C-A |
c.11951G>T |
p.G3984V |
Missense |
7/7 |
- |
2 |
14-105409838-C-A |
c.11950G>T |
p.G3984C |
Missense |
7/7 |
- |
1 |
14-105409838-C-T |
c.11950G>A |
p.G3984S |
Missense |
7/7 |
- |
2 |
14-105409841-G-A |
c.11947C>T |
p.P3983S |
Missense |
7/7 |
- |
1 |
14-105409843-G-A |
c.11945C>T |
p.A3982V |
Missense |
7/7 |
- |
1 |
14-105409844-C-A |
c.11944G>T |
p.A3982S |
Missense |
7/7 |
- |
2 |
14-105409845-A-C |
c.11943T>G |
p.S3981= |
Synonymous |
7/7 |
- |
1 |
14-105409845-A-G |
c.11943T>C |
p.S3981= |
Synonymous |
7/7 |
- |
1 |
14-105409845-A-T |
c.11943T>A |
p.S3981= |
Synonymous |
7/7 |
- |
1 |
14-105409849-A-G |
c.11939T>C |
p.V3980A |
Missense |
7/7 |
- |
1 |
14-105409853-C-T |
c.11935G>A |
p.G3979R |
Missense |
7/7 |
- |
1 |
14-105409854-G-A |
c.11934C>T |
p.F3978= |
Synonymous |
7/7 |
- |
4 |
14-105409857-C-A |
c.11931G>T |
p.S3977= |
Synonymous |
7/7 |
- |
1 |
14-105409857-C-G |
c.11931G>C |
p.S3977= |
Synonymous |
7/7 |
- |
2 |
14-105409857-C-T |
c.11931G>A |
p.S3977= |
Synonymous |
7/7 |
- |
3 |
14-105409858-G-A |
c.11930C>T |
p.S3977L |
Missense |
7/7 |
- |
1 |
14-105409860-C-A |
c.11928G>T |
p.P3976= |
Synonymous |
7/7 |
- |
1 |
14-105409860-C-G |
c.11928G>C |
p.P3976= |
Synonymous |
7/7 |
- |
2 |
14-105409860-C-T |
c.11928G>A |
p.P3976= |
Synonymous |
7/7 |
- |
3 |
14-105409861-G-A |
c.11927C>T |
p.P3976L |
Missense |
7/7 |
- |
5 |
14-105409862-G-A |
c.11926C>T |
p.P3976S |
Missense |
7/7 |
- |
3 |
14-105409869-G-C |
c.11919C>G |
p.F3973L |
Missense |
7/7 |
- |
2 |
14-105409869-G-T |
c.11919C>A |
p.F3973L |
Missense |
7/7 |
- |
2 |
14-105409871-A-G |
c.11917T>C |
p.F3973L |
Missense |
7/7 |
- |
2 |
14-105409872-C-T |
c.11916G>A |
p.K3972= |
Synonymous |
7/7 |
- |
1 |
14-105409875-G-A |
c.11913C>T |
p.P3971= |
Synonymous |
7/7 |
- |
1 |
14-105409875-G-C |
c.11913C>G |
p.P3971= |
Synonymous |
7/7 |
- |
1 |
14-105409875-G-T |
c.11913C>A |
p.P3971= |
Synonymous |
7/7 |
- |
2 |
14-105409882-T-C |
c.11906A>G |
p.K3969R |
Missense |
7/7 |
- |
1 |
14-105409887-C-T |
c.11901G>A |
p.K3967= |
Synonymous |
7/7 |
- |
1 |
14-105409901-C-T |
c.11887G>A |
p.A3963T |
Missense |
7/7 |
- |
1 |
14-105409902-C-A |
c.11886G>T |
p.T3962= |
Synonymous |
7/7 |
- |
3 |
14-105409902-C-G |
c.11886G>C |
p.T3962= |
Synonymous |
7/7 |
- |
2 |
14-105409902-C-T |
c.11886G>A |
p.T3962= |
Synonymous |
7/7 |
- |
2 |
14-105409903-G-A |
c.11885C>T |
p.T3962M |
Missense |
7/7 |
- |
2 |
14-105409904-T-A |
c.11884A>T |
p.T3962S |
Missense |
7/7 |
- |
1 |
14-105409907-T-A |
c.11881A>T |
p.M3961L |
Missense |
7/7 |
- |
5 |
14-105409907-T-C |
c.11881A>G |
p.M3961V |
Missense |
7/7 |
- |
20 |
14-105409908-G-A |
c.11880C>T |
p.D3960= |
Synonymous |
7/7 |
- |
1 |
14-105409909-T-C |
c.11879A>G |
p.D3960G |
Missense |
7/7 |
- |
1 |
14-105409909-T-G |
c.11879A>C |
p.D3960A |
Missense |
7/7 |
- |
1 |
14-105409910-C-A |
c.11878G>T |
p.D3960Y |
Missense |
7/7 |
- |
1 |
14-105409910-C-T |
c.11878G>A |
p.D3960N |
Missense |
7/7 |
- |
1 |
14-105409912-T-A |
c.11876A>T |
p.K3959M |
Missense |
7/7 |
- |
1 |
14-105409915-T-A |
c.11873A>T |
p.D3958V |
Missense |
7/7 |
- |
1 |
14-105409916-C-T |
c.11872G>A |
p.D3958N |
Missense |
7/7 |
- |
1 |
14-105409917-G-A |
c.11871C>T |
p.A3957= |
Synonymous |
7/7 |
- |
3 |
14-105409917-G-C |
c.11871C>G |
p.A3957= |
Synonymous |
7/7 |
- |
2 |
14-105409917-G-T |
c.11871C>A |
p.A3957= |
Synonymous |
7/7 |
- |
3 |
14-105409919-C-T |
c.11869G>A |
p.A3957T |
Missense |
7/7 |
- |
1 |
14-105409920-C-A |
c.11868G>T |
p.L3956= |
Synonymous |
7/7 |
- |
2 |
14-105409920-C-G |
c.11868G>C |
p.L3956= |
Synonymous |
7/7 |
- |
2 |
14-105409920-C-T |
c.11868G>A |
p.L3956= |
Synonymous |
7/7 |
- |
2 |
14-105409922-G-A |
c.11866C>T |
p.L3956= |
Synonymous |
7/7 |
- |
2 |
14-105409924-G-A |
c.11864C>T |
p.S3955F |
Missense |
7/7 |
- |
3 |
14-105409930-T-C |
c.11858A>G |
p.D3953G |
Missense |
7/7 |
- |
1 |
14-105409932-C-A |
c.11856G>T |
p.G3952= |
Synonymous |
7/7 |
- |
1 |
14-105409932-C-G |
c.11856G>C |
p.G3952= |
Synonymous |
7/7 |
- |
1 |
14-105409932-C-T |
c.11856G>A |
p.G3952= |
Synonymous |
7/7 |
- |
1 |
14-105409937-C-T |
c.11851G>A |
p.E3951K |
Missense |
7/7 |
- |
1 |
14-105409942-C-T |
c.11846G>A |
p.R3949Q |
Missense |
7/7 |
- |
1 |
14-105409944-C-A |
c.11844G>T |
p.A3948= |
Synonymous |
7/7 |
- |
1 |
14-105409944-C-G |
c.11844G>C |
p.A3948= |
Synonymous |
7/7 |
- |
1 |
14-105409944-C-T |
c.11844G>A |
p.A3948= |
Synonymous |
7/7 |
- |
1 |
14-105409945-G-A |
c.11843C>T |
p.A3948V |
Missense |
7/7 |
- |
1 |
14-105409953-C-A |
c.11835G>T |
p.L3945= |
Synonymous |
7/7 |
- |
1 |
14-105409953-C-G |
c.11835G>C |
p.L3945= |
Synonymous |
7/7 |
- |
1 |
14-105409953-C-T |
c.11835G>A |
p.L3945= |
Synonymous |
7/7 |
- |
1 |
14-105409955-G-A |
c.11833C>T |
p.L3945= |
Synonymous |
7/7 |
- |
1 |
14-105409958-T-G |
c.11830A>C |
p.K3944Q |
Missense |
7/7 |
- |
1 |
14-105409959-G-A |
c.11829C>T |
p.A3943= |
Synonymous |
7/7 |
- |
2 |
14-105409959-G-C |
c.11829C>G |
p.A3943= |
Synonymous |
7/7 |
- |
2 |
14-105409959-G-T |
c.11829C>A |
p.A3943= |
Synonymous |
7/7 |
- |
17 |
14-105409960-G-C |
c.11828C>G |
p.A3943G |
Missense |
7/7 |
- |
1 |
14-105409961-C-T |
c.11827G>A |
p.A3943T |
Missense |
7/7 |
- |
1 |
14-105409967-G-A |
c.11821C>T |
p.P3941S |
Missense |
7/7 |
- |
3 |
14-105409967-G-T |
c.11821C>A |
p.P3941T |
Missense |
7/7 |
- |
1 |
14-105409968-G-A |
c.11820C>T |
p.A3940= |
Synonymous |
7/7 |
- |
1 |
14-105409969-G-A |
c.11819C>T |
p.A3940V |
Missense |
7/7 |
- |
1 |
14-105409971-C-T |
c.11817G>A |
p.E3939= |
Synonymous |
7/7 |
- |
1 |
14-105409973-C-T |
c.11815G>A |
p.E3939K |
Missense |
7/7 |
- |
1 |
14-105409974-G-A |
c.11814C>T |
p.V3938= |
Synonymous |
7/7 |
- |
3 |
14-105409974-G-C |
c.11814C>G |
p.V3938= |
Synonymous |
7/7 |
- |
1 |
14-105409974-G-T |
c.11814C>A |
p.V3938= |
Synonymous |
7/7 |
- |
1 |
14-105409977-G-A |
c.11811C>T |
p.D3937= |
Synonymous |
7/7 |
- |
2 |
14-105409986-C-A |
c.11802G>T |
p.V3934= |
Synonymous |
7/7 |
- |
2 |
14-105409986-C-G |
c.11802G>C |
p.V3934= |
Synonymous |
7/7 |
- |
2 |
14-105409986-C-T |
c.11802G>A |
p.V3934= |
Synonymous |
7/7 |
- |
3 |
14-105409988-C-T |
c.11800G>A |
p.V3934M |
Missense |
7/7 |
- |
2 |
14-105409989-G-A |
c.11799C>T |
p.S3933= |
Synonymous |
7/7 |
- |
3 |
14-105410001-A-C |
c.11787T>G |
p.V3929= |
Synonymous |
7/7 |
- |
1 |
14-105410001-A-G |
c.11787T>C |
p.V3929= |
Synonymous |
7/7 |
- |
1 |
14-105410001-A-T |
c.11787T>A |
p.V3929= |
Synonymous |
7/7 |
- |
1 |
14-105410014-G-A |
c.11774C>T |
p.P3925L |
Missense |
7/7 |
- |
1 |
14-105410016-G-A |
c.11772C>T |
p.A3924= |
Synonymous |
7/7 |
- |
1 |
14-105410020-G-A |
c.11768C>T |
p.T3923I |
Missense |
7/7 |
- |
3 |
14-105410022-C-A |
c.11766G>T |
p.V3922= |
Synonymous |
7/7 |
- |
1 |
14-105410022-C-G |
c.11766G>C |
p.V3922= |
Synonymous |
7/7 |
- |
2 |
14-105410022-C-T |
c.11766G>A |
p.V3922= |
Synonymous |
7/7 |
- |
1 |
14-105410029-A-G |
c.11759T>C |
p.V3920A |
Missense |
7/7 |
- |
1 |
14-105410035-G-T |
c.11753C>A |
p.P3918H |
Missense |
7/7 |
- |
2 |
14-105410037-G-A |
c.11751C>T |
p.D3917= |
Synonymous |
7/7 |
- |
1 |
14-105410038-T-C |
c.11750A>G |
p.D3917G |
Missense |
7/7 |
- |
4 |
14-105410043-T-A |
c.11745A>T |
p.L3915= |
Synonymous |
7/7 |
- |
1 |
14-105410043-T-C |
c.11745A>G |
p.L3915= |
Synonymous |
7/7 |
- |
1 |
14-105410043-T-G |
c.11745A>C |
p.L3915= |
Synonymous |
7/7 |
- |
1 |
14-105410045-G-A |
c.11743C>T |
p.L3915= |
Synonymous |
7/7 |
- |
1 |
14-105410048-C-G |
c.11740G>C |
p.D3914H |
Missense |
7/7 |
- |
1 |
14-105410051-G-C |
c.11737C>G |
p.L3913V |
Missense |
7/7 |
- |
1 |
14-105410057-G-A |
c.11731C>T |
p.P3911S |
Missense |
7/7 |
- |
1 |
14-105410059-C-G |
c.11729G>C |
p.G3910A |
Missense |
7/7 |
- |
1 |
14-105410061-C-A |
c.11727G>T |
p.K3909N |
Missense |
7/7 |
- |
4 |
14-105410061-C-G |
c.11727G>C |
p.K3909N |
Missense |
7/7 |
- |
2 |
14-105410064-G-A |
c.11724C>T |
p.I3908= |
Synonymous |
7/7 |
- |
1 |
14-105410064-G-C |
c.11724C>G |
p.I3908M |
Missense |
7/7 |
- |
1 |
14-105410066-T-G |
c.11722A>C |
p.I3908L |
Missense |
7/7 |
- |
1 |
14-105410072-T-C |
c.11716A>G |
p.I3906V |
Missense |
7/7 |
- |
2 |
14-105410078-G-A |
c.11710C>T |
p.P3904S |
Missense |
7/7 |
- |
3 |
14-105410080-C-A |
c.11708G>T |
p.G3903V |
Missense |
7/7 |
- |
2 |
14-105410082-C-A |
c.11706G>T |
p.K3902N |
Missense |
7/7 |
- |
4 |
14-105410082-C-G |
c.11706G>C |
p.K3902N |
Missense |
7/7 |
- |
3 |
14-105410082-C-T |
c.11706G>A |
p.K3902= |
Synonymous |
7/7 |
- |
1 |
14-105410086-A-G |
c.11702T>C |
p.L3901P |
Missense |
7/7 |
- |
2 |
14-105410091-G-A |
c.11697C>T |
p.V3899= |
Synonymous |
7/7 |
- |
4 |
14-105410091-G-C |
c.11697C>G |
p.V3899= |
Synonymous |
7/7 |
- |
4 |
14-105410091-G-T |
c.11697C>A |
p.V3899= |
Synonymous |
7/7 |
- |
4 |
14-105410108-A-G |
c.11680T>C |
p.F3894L |
Missense |
7/7 |
- |
1 |
14-105410109-A-C |
c.11679T>G |
p.S3893R |
Missense |
7/7 |
- |
1 |
14-105410109-A-T |
c.11679T>A |
p.S3893R |
Missense |
7/7 |
- |
1 |
14-105410111-T-G |
c.11677A>C |
p.S3893R |
Missense |
7/7 |
- |
1 |
14-105410116-A-G |
c.11672T>C |
p.M3891T |
Missense |
7/7 |
- |
1 |
14-105410123-C-T |
c.11665G>A |
p.V3889M |
Missense |
7/7 |
- |
2 |
14-105410125-T-G |
c.11663A>C |
p.K3888T |
Missense |
7/7 |
- |
2 |
14-105410128-G-A |
c.11660C>T |
p.P3887L |
Missense |
7/7 |
- |
1 |
14-105410130-C-A |
c.11658G>T |
p.L3886= |
Synonymous |
7/7 |
- |
1 |
14-105410130-C-G |
c.11658G>C |
p.L3886= |
Synonymous |
7/7 |
- |
1 |
14-105410130-C-T |
c.11658G>A |
p.L3886= |
Synonymous |
7/7 |
- |
1 |
14-105410132-G-A |
c.11656C>T |
p.L3886= |
Synonymous |
7/7 |
- |
1 |
14-105410132-G-T |
c.11656C>A |
p.L3886M |
Missense |
7/7 |
- |
2 |
14-105410136-T-A |
c.11652A>T |
p.G3884= |
Synonymous |
7/7 |
- |
1 |
14-105410136-T-C |
c.11652A>G |
p.G3884= |
Synonymous |
7/7 |
- |
2 |
14-105410136-T-G |
c.11652A>C |
p.G3884= |
Synonymous |
7/7 |
- |
1 |
14-105410137-C-T |
c.11651G>A |
p.G3884E |
Missense |
7/7 |
- |
1 |
14-105410138-C-A |
c.11650G>T |
p.G3884* |
Nonsense |
7/7 |
- |
2 |
14-105410142-G-A |
c.11646C>T |
p.L3882= |
Synonymous |
7/7 |
- |
1 |
14-105410142-G-C |
c.11646C>G |
p.L3882= |
Synonymous |
7/7 |
- |
1 |
14-105410142-G-T |
c.11646C>A |
p.L3882= |
Synonymous |
7/7 |
- |
1 |
14-105410143-A-G |
c.11645T>C |
p.L3882P |
Missense |
7/7 |
- |
1 |
14-105410147-C-T |
c.11641G>A |
p.G3881S |
Missense |
7/7 |
- |
1 |
14-105410148-G-A |
c.11640C>T |
p.A3880= |
Synonymous |
7/7 |
- |
1 |
14-105410148-G-T |
c.11640C>A |
p.A3880= |
Synonymous |
7/7 |
- |
1 |
14-105410152-T-C |
c.11636A>G |
p.E3879G |
Missense |
7/7 |
- |
4 |
14-105410153-C-T |
c.11635G>A |
p.E3879K |
Missense |
7/7 |
- |
1 |
14-105410155-T-A |
c.11633A>T |
p.E3878V |
Missense |
7/7 |
- |
1 |
14-105410156-C-A |
c.11632G>T |
p.E3878* |
Nonsense |
7/7 |
- |
1 |
14-105410157-G-A |
c.11631C>T |
p.P3877= |
Synonymous |
7/7 |
- |
2 |
14-105410157-G-C |
c.11631C>G |
p.P3877= |
Synonymous |
7/7 |
- |
2 |
14-105410157-G-T |
c.11631C>A |
p.P3877= |
Synonymous |
7/7 |
- |
1 |
14-105410160-C-A |
c.11628G>T |
p.V3876= |
Synonymous |
7/7 |
- |
1 |
14-105410160-C-G |
c.11628G>C |
p.V3876= |
Synonymous |
7/7 |
- |
1 |
14-105410162-C-T |
c.11626G>A |
p.V3876M |
Missense |
7/7 |
- |
3 |
14-105410163-G-A |
c.11625C>T |
p.H3875= |
Synonymous |
7/7 |
- |
2 |
14-105410163-G-C |
c.11625C>G |
p.H3875Q |
Missense |
7/7 |
- |
1 |
14-105410164-T-G |
c.11624A>C |
p.H3875P |
Missense |
7/7 |
- |
1 |
14-105410165-G-T |
c.11623C>A |
p.H3875N |
Missense |
7/7 |
- |
1 |
14-105410166-G-A |
c.11622C>T |
p.G3874= |
Synonymous |
7/7 |
- |
1 |
14-105410166-G-C |
c.11622C>G |
p.G3874= |
Synonymous |
7/7 |
- |
1 |
14-105410166-G-T |
c.11622C>A |
p.G3874= |
Synonymous |
7/7 |
- |
1 |
14-105410166-GC-G |
c.11621del |
p.G3874Afs*33 |
Frameshift |
7/7 |
- |
1 |
14-105410171-C-T |
c.11617G>A |
p.E3873K |
Missense |
7/7 |
- |
5 |
14-105410175-G-A |
c.11613C>T |
p.L3871= |
Synonymous |
7/7 |
- |
1 |
14-105410181-C-T |
c.11607G>A |
p.M3869I |
Missense |
7/7 |
- |
1 |
14-105410183-T-C |
c.11605A>G |
p.M3869V |
Missense |
7/7 |
- |
26 |
14-105410192-G-C |
c.11596C>G |
p.Q3866E |
Missense |
7/7 |
- |
1 |
14-105410194-C-A |
c.11594G>T |
p.R3865L |
Missense |
7/7 |
- |
3 |
14-105410194-C-T |
c.11594G>A |
p.R3865H |
Missense |
7/7 |
- |
4 |
14-105410195-G-C |
c.11593C>G |
p.R3865G |
Missense |
7/7 |
- |
1 |
14-105410199-T-C |
c.11589A>G |
p.Q3863= |
Synonymous |
7/7 |
- |
1 |
14-105410201-G-A |
c.11587C>T |
p.Q3863* |
Nonsense |
7/7 |
- |
2 |
14-105410204-C-T |
c.11584G>A |
p.V3862I |
Missense |
7/7 |
- |
4 |
14-105410206-G-A |
c.11582C>T |
p.T3861M |
Missense |
7/7 |
- |
4 |
14-105410206-G-T |
c.11582C>A |
p.T3861K |
Missense |
7/7 |
- |
2 |
14-105410211-G-T |
c.11577C>A |
p.D3859E |
Missense |
7/7 |
- |
3 |
14-105410212-T-A |
c.11576A>T |
p.D3859V |
Missense |
7/7 |
- |
1 |
14-105410213-C-T |
c.11575G>A |
p.D3859N |
Missense |
7/7 |
- |
5 |
14-105410214-G-A |
c.11574C>T |
p.A3858= |
Synonymous |
7/7 |
- |
1 |
14-105410214-G-C |
c.11574C>G |
p.A3858= |
Synonymous |
7/7 |
- |
1 |
14-105410214-G-T |
c.11574C>A |
p.A3858= |
Synonymous |
7/7 |
- |
1 |
14-105410216-C-A |
c.11572G>T |
p.A3858S |
Missense |
7/7 |
- |
1 |
14-105410216-C-T |
c.11572G>A |
p.A3858T |
Missense |
7/7 |
- |
1 |
14-105410218-G-A |
c.11570C>T |
p.S3857F |
Missense |
7/7 |
- |
2 |
14-105410221-T-G |
c.11567A>C |
p.H3856P |
Missense |
7/7 |
- |
3 |
14-105410222-G-T |
c.11566C>A |
p.H3856N |
Missense |
7/7 |
- |
1 |
14-105410235-G-A |
c.11553C>T |
p.L3851= |
Synonymous |
7/7 |
- |
1 |
14-105410235-G-C |
c.11553C>G |
p.L3851= |
Synonymous |
7/7 |
- |
1 |
14-105410235-G-T |
c.11553C>A |
p.L3851= |
Synonymous |
7/7 |
- |
1 |
14-105410237-G-A |
c.11551C>T |
p.L3851F |
Missense |
7/7 |
- |
3 |
14-105410241-A-C |
c.11547T>G |
p.T3849= |
Synonymous |
7/7 |
- |
1 |
14-105410241-A-G |
c.11547T>C |
p.T3849= |
Synonymous |
7/7 |
- |
1 |
14-105410241-A-T |
c.11547T>A |
p.T3849= |
Synonymous |
7/7 |
- |
1 |
14-105410246-T-C |
c.11542A>G |
p.T3848A |
Missense |
7/7 |
- |
2 |
14-105410247-C-A |
c.11541G>T |
p.K3847N |
Missense |
7/7 |
- |
3 |
14-105410247-C-G |
c.11541G>C |
p.K3847N |
Missense |
7/7 |
- |
4 |
14-105410254-T-C |
c.11534A>G |
p.D3845G |
Missense |
7/7 |
- |
1 |
14-105410258-C-A |
c.11530G>T |
p.G3844W |
Missense |
7/7 |
- |
2 |
14-105410258-C-G |
c.11530G>C |
p.G3844R |
Missense |
7/7 |
- |
1 |
14-105410258-C-T |
c.11530G>A |
p.G3844R |
Missense |
7/7 |
- |
3 |
14-105410261-G-A |
c.11527C>T |
p.Q3843* |
Nonsense |
7/7 |
- |
1 |
14-105410262-C-T |
c.11526G>A |
p.M3842I |
Missense |
7/7 |
- |
1 |
14-105410265-G-A |
c.11523C>T |
p.S3841= |
Synonymous |
7/7 |
- |
1 |
14-105410266-G-T |
c.11522C>A |
p.S3841Y |
Missense |
7/7 |
- |
1 |
14-105410274-A-G |
c.11514T>C |
p.S3838= |
Synonymous |
7/7 |
- |
1 |
14-105410280-A-G |
c.11508T>C |
p.D3836= |
Synonymous |
7/7 |
- |
1 |
14-105410281-T-C |
c.11507A>G |
p.D3836G |
Missense |
7/7 |
- |
1 |
14-105410282-C-T |
c.11506G>A |
p.D3836N |
Missense |
7/7 |
- |
1 |
14-105410286-C-A |
c.11502G>T |
p.E3834D |
Missense |
7/7 |
- |
5 |
14-105410286-C-G |
c.11502G>C |
p.E3834D |
Missense |
7/7 |
- |
4 |
14-105410292-C-T |
c.11496G>A |
p.K3832= |
Synonymous |
7/7 |
- |
1 |
14-105410293-T-C |
c.11495A>G |
p.K3832R |
Missense |
7/7 |
- |
1 |
14-105410297-G-C |
c.11491C>G |
p.P3831A |
Missense |
7/7 |
- |
1 |
14-105410306-C-T |
c.11482G>A |
p.V3828M |
Missense |
7/7 |
- |
1 |
14-105410307-G-A |
c.11481C>T |
p.H3827= |
Synonymous |
7/7 |
- |
1 |
14-105410307-G-C |
c.11481C>G |
p.H3827Q |
Missense |
7/7 |
- |
2 |
14-105410307-G-T |
c.11481C>A |
p.H3827Q |
Missense |
7/7 |
- |
1 |
14-105410309-G-C |
c.11479C>G |
p.H3827D |
Missense |
7/7 |
- |
1 |
14-105410313-C-A |
c.11475G>T |
p.S3825= |
Synonymous |
7/7 |
- |
2 |
14-105410313-C-G |
c.11475G>C |
p.S3825= |
Synonymous |
7/7 |
- |
2 |
14-105410313-CG-AA |
c.11474_11475delinsTT |
p.S3825F |
Missense |
7/7 |
- |
1 |
14-105410313-C-T |
c.11475G>A |
p.S3825= |
Synonymous |
7/7 |
- |
2 |
14-105410314-G-A |
c.11474C>T |
p.S3825L |
Missense |
7/7 |
- |
3 |
14-105410315-A-T |
c.11473T>A |
p.S3825T |
Missense |
7/7 |
- |
1 |
14-105410317-G-A |
c.11471C>T |
p.A3824V |
Missense |
7/7 |
- |
1 |
14-105410322-A-C |
c.11466T>G |
p.I3822M |
Missense |
7/7 |
- |
1 |
14-105410322-A-G |
c.11466T>C |
p.I3822= |
Synonymous |
7/7 |
- |
4 |
14-105410322-A-T |
c.11466T>A |
p.I3822= |
Synonymous |
7/7 |
- |
2 |
14-105410323-A-G |
c.11465T>C |
p.I3822T |
Missense |
7/7 |
- |
1 |
14-105410326-G-T |
c.11462C>A |
p.S3821Y |
Missense |
7/7 |
- |
2 |
14-105410329-T-C |
c.11459A>G |
p.K3820R |
Missense |
7/7 |
- |
1 |
14-105410335-G-A |
c.11453C>T |
p.P3818L |
Missense |
7/7 |
- |
1 |
14-105410338-G-C |
c.11450C>G |
p.A3817G |
Missense |
7/7 |
- |
2 |
14-105410340-A-C |
c.11448T>G |
p.S3816= |
Synonymous |
7/7 |
- |
1 |
14-105410341-G-C |
c.11447C>G |
p.S3816C |
Missense |
7/7 |
- |
1 |
14-105410342-A-G |
c.11446T>C |
p.S3816P |
Missense |
7/7 |
- |
1 |
14-105410343-C-T |
c.11445G>A |
p.V3815= |
Synonymous |
7/7 |
- |
1 |
14-105410345-C-A |
c.11443G>T |
p.V3815L |
Missense |
7/7 |
- |
1 |
14-105410345-C-G |
c.11443G>C |
p.V3815L |
Missense |
7/7 |
- |
1 |
14-105410347-C-A |
c.11441G>T |
p.G3814V |
Missense |
7/7 |
- |
1 |
14-105410347-C-T |
c.11441G>A |
p.G3814E |
Missense |
7/7 |
- |
1 |
14-105410349-A-G |
c.11439T>C |
p.F3813= |
Synonymous |
7/7 |
- |
1 |
14-105410352-T-A |
c.11436A>T |
p.S3812= |
Synonymous |
7/7 |
- |
1 |
14-105410352-T-C |
c.11436A>G |
p.S3812= |
Synonymous |
7/7 |
- |
4 |
14-105410352-T-G |
c.11436A>C |
p.S3812= |
Synonymous |
7/7 |
- |
2 |
14-105410355-C-A |
c.11433G>T |
p.P3811= |
Synonymous |
7/7 |
- |
1 |
14-105410355-C-G |
c.11433G>C |
p.P3811= |
Synonymous |
7/7 |
- |
1 |
14-105410355-C-T |
c.11433G>A |
p.P3811= |
Synonymous |
7/7 |
- |
1 |
14-105410356-G-A |
c.11432C>T |
p.P3811L |
Missense |
7/7 |
- |
4 |
14-105410361-C-A |
c.11427G>T |
p.K3809N |
Missense |
7/7 |
- |
2 |
14-105410361-C-G |
c.11427G>C |
p.K3809N |
Missense |
7/7 |
- |
2 |
14-105410364-GA-G |
c.11423del |
p.F3808Sfs*30 |
Frameshift |
7/7 |
- |
1 |
14-105410370-G-A |
c.11418C>T |
p.P3806= |
Synonymous |
7/7 |
- |
1 |
14-105410370-G-C |
c.11418C>G |
p.P3806= |
Synonymous |
7/7 |
- |
1 |
14-105410370-G-T |
c.11418C>A |
p.P3806= |
Synonymous |
7/7 |
- |
1 |
14-105410372-G-A |
c.11416C>T |
p.P3806S |
Missense |
7/7 |
- |
1 |
14-105410382-T-C |
c.11406A>G |
p.K3802= |
Synonymous |
7/7 |
- |
2 |
14-105410383-T-C |
c.11405A>G |
p.K3802R |
Missense |
7/7 |
- |
6 |
14-105410390-C-A |
c.11398G>T |
p.D3800Y |
Missense |
7/7 |
- |
2 |
14-105410394-G-A |
c.11394C>T |
p.A3798= |
Synonymous |
7/7 |
- |
2 |
14-105410394-G-C |
c.11394C>G |
p.A3798= |
Synonymous |
7/7 |
- |
2 |
14-105410394-G-T |
c.11394C>A |
p.A3798= |
Synonymous |
7/7 |
- |
2 |
14-105410396-C-T |
c.11392G>A |
p.A3798T |
Missense |
7/7 |
- |
1 |
14-105410402-C-T |
c.11386G>A |
p.V3796M |
Missense |
7/7 |
- |
1 |
14-105410403-A-G |
c.11385T>C |
p.D3795= |
Synonymous |
7/7 |
- |
1 |
14-105410406-C-T |
c.11382G>A |
p.K3794= |
Synonymous |
7/7 |
- |
4 |
14-105410407-T-C |
c.11381A>G |
p.K3794R |
Missense |
7/7 |
- |
3 |
14-105410409-G-A |
c.11379C>T |
p.D3793= |
Synonymous |
7/7 |
- |
1 |
14-105410411-C-T |
c.11377G>A |
p.D3793N |
Missense |
7/7 |
- |
35 |
14-105410412-G-A |
c.11376C>T |
p.A3792= |
Synonymous |
7/7 |
- |
5 |
14-105410412-G-C |
c.11376C>G |
p.A3792= |
Synonymous |
7/7 |
- |
2 |
14-105410412-G-T |
c.11376C>A |
p.A3792= |
Synonymous |
7/7 |
- |
2 |
14-105410415-C-A |
c.11373G>T |
p.L3791= |
Synonymous |
7/7 |
- |
2 |
14-105410415-C-G |
c.11373G>C |
p.L3791= |
Synonymous |
7/7 |
- |
2 |
14-105410415-C-T |
c.11373G>A |
p.L3791= |
Synonymous |
7/7 |
- |
2 |
14-105410417-G-A |
c.11371C>T |
p.L3791= |
Synonymous |
7/7 |
- |
5 |
14-105410418-G-A |
c.11370C>T |
p.S3790= |
Synonymous |
7/7 |
- |
3 |
14-105410419-G-A |
c.11369C>T |
p.S3790F |
Missense |
7/7 |
- |
3 |
14-105410422-A-C |
c.11366T>G |
p.L3789R |
Missense |
7/7 |
- |
1 |
14-105410423-G-A |
c.11365C>T |
p.L3789= |
Synonymous |
7/7 |
- |
1 |
14-105410427-C-A |
c.11361G>T |
p.G3787= |
Synonymous |
7/7 |
- |
1 |
14-105410427-C-G |
c.11361G>C |
p.G3787= |
Synonymous |
7/7 |
- |
1 |
14-105410427-C-T |
c.11361G>A |
p.G3787= |
Synonymous |
7/7 |
- |
1 |
14-105410433-C-A |
c.11355G>T |
p.L3785= |
Synonymous |
7/7 |
- |
1 |
14-105410433-C-G |
c.11355G>C |
p.L3785= |
Synonymous |
7/7 |
- |
1 |
14-105410433-C-T |
c.11355G>A |
p.L3785= |
Synonymous |
7/7 |
- |
1 |
14-105410435-G-A |
c.11353C>T |
p.L3785= |
Synonymous |
7/7 |
- |
4 |
14-105410437-T-C |
c.11351A>G |
p.Q3784R |
Missense |
7/7 |
- |
1 |
14-105410439-T-C |
c.11349A>G |
p.A3783= |
Synonymous |
7/7 |
- |
1 |
14-105410444-T-C |
c.11344A>G |
p.S3782G |
Missense |
7/7 |
- |
1 |
14-105410447-C-A |
c.11341G>T |
p.D3781Y |
Missense |
7/7 |
- |
1 |
14-105410450-G-C |
c.11338C>G |
p.L3780V |
Missense |
7/7 |
- |
1 |
14-105410451-T-C |
c.11337A>G |
p.K3779= |
Synonymous |
7/7 |
- |
5 |
14-105410454-G-A |
c.11334C>T |
p.A3778= |
Synonymous |
7/7 |
- |
1 |
14-105410454-G-C |
c.11334C>G |
p.A3778= |
Synonymous |
7/7 |
- |
1 |
14-105410454-G-T |
c.11334C>A |
p.A3778= |
Synonymous |
7/7 |
- |
1 |
14-105410456-C-T |
c.11332G>A |
p.A3778T |
Missense |
7/7 |
- |
4 |
14-105410459-T-C |
c.11329A>G |
p.R3777G |
Missense |
7/7 |
- |
1 |
14-105410460-T-C |
c.11328A>G |
p.P3776= |
Synonymous |
7/7 |
- |
1 |
14-105410461-G-A |
c.11327C>T |
p.P3776L |
Missense |
7/7 |
- |
1 |
14-105410461-G-C |
c.11327C>G |
p.P3776R |
Missense |
7/7 |
- |
6 |
14-105410463-G-A |
c.11325C>T |
p.A3775= |
Synonymous |
7/7 |
- |
4 |
14-105410463-G-C |
c.11325C>G |
p.A3775= |
Synonymous |
7/7 |
- |
2 |
14-105410463-G-T |
c.11325C>A |
p.A3775= |
Synonymous |
7/7 |
- |
2 |
14-105410468-G-C |
c.11320C>G |
p.Q3774E |
Missense |
7/7 |
- |
1 |
14-105410471-C-T |
c.11317G>A |
p.V3773I |
Missense |
7/7 |
- |
1 |
14-105410472-G-A |
c.11316C>T |
p.D3772= |
Synonymous |
7/7 |
- |
2 |
14-105410472-G-C |
c.11316C>G |
p.D3772E |
Missense |
7/7 |
- |
2 |
14-105410472-G-T |
c.11316C>A |
p.D3772E |
Missense |
7/7 |
- |
1 |
14-105410475-C-G |
c.11313G>C |
p.V3771= |
Synonymous |
7/7 |
- |
3 |
14-105410480-C-G |
c.11308G>C |
p.E3770Q |
Missense |
7/7 |
- |
1 |
14-105410481-C-A |
c.11307G>T |
p.V3769= |
Synonymous |
7/7 |
- |
2 |
14-105410481-C-G |
c.11307G>C |
p.V3769= |
Synonymous |
7/7 |
- |
3 |
14-105410481-C-T |
c.11307G>A |
p.V3769= |
Synonymous |
7/7 |
- |
2 |
14-105410483-C-T |
c.11305G>A |
p.V3769M |
Missense |
7/7 |
- |
4 |
14-105410484-G-A |
c.11304C>T |
p.S3768= |
Synonymous |
7/7 |
- |
1 |
14-105410488-G-A |
c.11300C>T |
p.P3767L |
Missense |
7/7 |
- |
2 |
14-105410492-G-A |
c.11296C>T |
p.L3766= |
Synonymous |
7/7 |
- |
1 |
14-105410493-A-G |
c.11295T>C |
p.S3765= |
Synonymous |
7/7 |
- |
1 |
14-105410490-CAG-C |
c.11296_11297del |
p.L3766Afs*16 |
Frameshift |
7/7 |
- |
1 |
14-105410494-G-T |
c.11294C>A |
p.S3765Y |
Missense |
7/7 |
- |
1 |
14-105410501-C-T |
c.11287G>A |
p.E3763K |
Missense |
7/7 |
- |
1 |
14-105410502-C-A |
c.11286G>T |
p.V3762= |
Synonymous |
7/7 |
- |
1 |
14-105410502-CAC-GAT |
c.11284_11286delinsATC |
p.V3762I |
Missense |
7/7 |
- |
1 |
14-105410502-C-G |
c.11286G>C |
p.V3762= |
Synonymous |
7/7 |
- |
2 |
14-105410502-C-T |
c.11286G>A |
p.V3762= |
Synonymous |
7/7 |
- |
1 |
14-105410504-C-A |
c.11284G>T |
p.V3762L |
Missense |
7/7 |
- |
2 |
14-105410504-C-G |
c.11284G>C |
p.V3762L |
Missense |
7/7 |
- |
2 |
14-105410506-T-C |
c.11282A>G |
p.D3761G |
Missense |
7/7 |
- |
3 |
14-105410508-A-C |
c.11280T>G |
p.P3760= |
Synonymous |
7/7 |
- |
2 |
14-105410508-A-G |
c.11280T>C |
p.P3760= |
Synonymous |
7/7 |
- |
3 |
14-105410508-A-T |
c.11280T>A |
p.P3760= |
Synonymous |
7/7 |
- |
2 |
14-105410510-G-A |
c.11278C>T |
p.P3760S |
Missense |
7/7 |
- |
1 |
14-105410512-G-A |
c.11276C>T |
p.A3759V |
Missense |
7/7 |
- |
9 |
14-105410515-G-C |
c.11273C>G |
p.T3758R |
Missense |
7/7 |
- |
5 |
14-105410517-G-A |
c.11271C>T |
p.V3757= |
Synonymous |
7/7 |
- |
1 |
14-105410517-G-C |
c.11271C>G |
p.V3757= |
Synonymous |
7/7 |
- |
3 |
14-105410517-G-T |
c.11271C>A |
p.V3757= |
Synonymous |
7/7 |
- |
1 |
14-105410518-A-G |
c.11270T>C |
p.V3757A |
Missense |
7/7 |
- |
1 |
14-105410523-C-A |
c.11265G>T |
p.A3755= |
Synonymous |
7/7 |
- |
3 |
14-105410523-C-G |
c.11265G>C |
p.A3755= |
Synonymous |
7/7 |
- |
2 |
14-105410523-C-T |
c.11265G>A |
p.A3755= |
Synonymous |
7/7 |
- |
4 |
14-105410524-G-A |
c.11264C>T |
p.A3755V |
Missense |
7/7 |
- |
8 |
14-105410524-G-T |
c.11264C>A |
p.A3755E |
Missense |
7/7 |
- |
1 |
14-105410526-C-T |
c.11262G>A |
p.K3754= |
Synonymous |
7/7 |
- |
3 |
14-105410527-T-A |
c.11261A>T |
p.K3754M |
Missense |
7/7 |
- |
1 |
14-105410530-G-A |
c.11258C>T |
p.S3753F |
Missense |
7/7 |
- |
2 |
14-105410531-A-G |
c.11257T>C |
p.S3753P |
Missense |
7/7 |
- |
5 |
14-105410532-G-A |
c.11256C>T |
p.V3752= |
Synonymous |
7/7 |
- |
2 |
14-105410533-A-T |
c.11255T>A |
p.V3752D |
Missense |
7/7 |
- |
3 |
14-105410538-T-C |
c.11250A>G |
p.L3750= |
Synonymous |
7/7 |
- |
1 |
14-105410538-T-TC |
c.11249_11250insG |
p.V3752Sfs*10 |
Frameshift |
7/7 |
- |
1 |
14-105410541-G-A |
c.11247C>T |
p.D3749= |
Synonymous |
7/7 |
- |
1 |
14-105410541-G-C |
c.11247C>G |
p.D3749E |
Missense |
7/7 |
- |
2 |
14-105410541-G-T |
c.11247C>A |
p.D3749E |
Missense |
7/7 |
- |
2 |
14-105410540-GGTCCAGCTTGGGGCCCTTGAT-G |
c.11227_11247del |
p.I3743_D3749del |
InFrameDeletion |
7/7 |
- |
1 |
14-105410546-G-C |
c.11242C>G |
p.L3748V |
Missense |
7/7 |
- |
1 |
14-105410548-T-C |
c.11240A>G |
p.K3747R |
Missense |
7/7 |
- |
1 |
14-105410550-G-A |
c.11238C>T |
p.P3746= |
Synonymous |
7/7 |
- |
1 |
14-105410550-G-C |
c.11238C>G |
p.P3746= |
Synonymous |
7/7 |
- |
1 |
14-105410550-G-T |
c.11238C>A |
p.P3746= |
Synonymous |
7/7 |
- |
1 |
14-105410551-G-A |
c.11237C>T |
p.P3746L |
Missense |
7/7 |
- |
2 |
14-105410551-G-T |
c.11237C>A |
p.P3746H |
Missense |
7/7 |
- |
1 |
14-105410553-G-A |
c.11235C>T |
p.G3745= |
Synonymous |
7/7 |
- |
1 |
14-105410555-C-G |
c.11233G>C |
p.G3745R |
Missense |
7/7 |
- |
1 |
14-105410562-G-C |
c.11226C>G |
p.D3742E |
Missense |
7/7 |
- |
1 |
14-105410562-G-T |
c.11226C>A |
p.D3742E |
Missense |
7/7 |
- |
1 |
14-105410564-C-A |
c.11224G>T |
p.D3742Y |
Missense |
7/7 |
- |
1 |
14-105410565-C-A |
c.11223G>T |
p.V3741= |
Synonymous |
7/7 |
- |
1 |
14-105410565-C-G |
c.11223G>C |
p.V3741= |
Synonymous |
7/7 |
- |
1 |
14-105410565-C-T |
c.11223G>A |
p.V3741= |
Synonymous |
7/7 |
- |
1 |
14-105410567-C-A |
c.11221G>T |
p.V3741L |
Missense |
7/7 |
- |
2 |
14-105410567-C-G |
c.11221G>C |
p.V3741L |
Missense |
7/7 |
- |
1 |
14-105410568-C-T |
c.11220G>A |
p.Q3740= |
Synonymous |
7/7 |
- |
1 |
14-105410569-T-C |
c.11219A>G |
p.Q3740R |
Missense |
7/7 |
- |
1 |
14-105410571-G-A |
c.11217C>T |
p.P3739= |
Synonymous |
7/7 |
- |
1 |
14-105410573-G-A |
c.11215C>T |
p.P3739S |
Missense |
7/7 |
- |
1 |
14-105410573-G-T |
c.11215C>A |
p.P3739T |
Missense |
7/7 |
- |
1 |
14-105410575-C-G |
c.11213G>C |
p.G3738A |
Missense |
7/7 |
- |
1 |
14-105410575-C-T |
c.11213G>A |
p.G3738D |
Missense |
7/7 |
- |
2 |
14-105410576-C-T |
c.11212G>A |
p.G3738S |
Missense |
7/7 |
- |
1 |
14-105410577-C-A |
c.11211G>T |
p.K3737N |
Missense |
7/7 |
- |
3 |
14-105410577-C-G |
c.11211G>C |
p.K3737N |
Missense |
7/7 |
- |
1 |
14-105410578-T-A |
c.11210A>T |
p.K3737M |
Missense |
7/7 |
- |
1 |
14-105410582-G-A |
c.11206C>T |
p.L3736F |
Missense |
7/7 |
- |
1 |
14-105410586-C-A |
c.11202G>T |
p.V3734= |
Synonymous |
7/7 |
- |
1 |
14-105410596-A-G |
c.11192T>C |
p.M3731T |
Missense |
7/7 |
- |
2 |
14-105410598-C-T |
c.11190G>A |
p.K3730= |
Synonymous |
7/7 |
- |
1 |
14-105410601-C-A |
c.11187G>T |
p.L3729F |
Missense |
7/7 |
- |
1 |
14-105410601-C-G |
c.11187G>C |
p.L3729F |
Missense |
7/7 |
- |
1 |
14-105410601-C-T |
c.11187G>A |
p.L3729= |
Synonymous |
7/7 |
- |
1 |
14-105410603-A-C |
c.11185T>G |
p.L3729V |
Missense |
7/7 |
- |
1 |
14-105410607-G-A |
c.11181C>T |
p.P3727= |
Synonymous |
7/7 |
- |
1 |
14-105410611-A-G |
c.11177T>C |
p.M3726T |
Missense |
7/7 |
- |
2 |
14-105410612-T-A |
c.11176A>T |
p.M3726L |
Missense |
7/7 |
- |
1 |
14-105410612-T-G |
c.11176A>C |
p.M3726L |
Missense |
7/7 |
- |
1 |
14-105410615-C-G |
c.11173G>C |
p.E3725Q |
Missense |
7/7 |
- |
1 |
14-105410615-C-T |
c.11173G>A |
p.E3725K |
Missense |
7/7 |
- |
1 |
14-105410619-C-T |
c.11169G>A |
p.K3723= |
Synonymous |
7/7 |
- |
1 |
14-105410623-G-T |
c.11165C>A |
p.P3722H |
Missense |
7/7 |
- |
1 |
14-105410625-C-A |
c.11163G>T |
p.L3721= |
Synonymous |
7/7 |
- |
2 |
14-105410625-C-G |
c.11163G>C |
p.L3721= |
Synonymous |
7/7 |
- |
2 |
14-105410625-C-T |
c.11163G>A |
p.L3721= |
Synonymous |
7/7 |
- |
2 |
14-105410627-G-A |
c.11161C>T |
p.L3721= |
Synonymous |
7/7 |
- |
4 |
14-105410630-G-A |
c.11158C>T |
p.H3720Y |
Missense |
7/7 |
- |
1 |
14-105410631-C-A |
c.11157G>T |
p.E3719D |
Missense |
7/7 |
- |
1 |
14-105410631-C-G |
c.11157G>C |
p.E3719D |
Missense |
7/7 |
- |
1 |
14-105410632-T-C |
c.11156A>G |
p.E3719G |
Missense |
7/7 |
- |
4 |
14-105410633-C-G |
c.11155G>C |
p.E3719Q |
Missense |
7/7 |
- |
1 |
14-105410634-T-C |
c.11154A>G |
p.K3718= |
Synonymous |
7/7 |
- |
1 |
14-105410633-CT-C |
c.11154del |
p.E3719Sfs*11 |
Frameshift |
7/7 |
- |
1 |
14-105410637-G-A |
c.11151C>T |
p.L3717= |
Synonymous |
7/7 |
- |
3 |
14-105410637-G-C |
c.11151C>G |
p.L3717= |
Synonymous |
7/7 |
- |
2 |
14-105410637-G-T |
c.11151C>A |
p.L3717= |
Synonymous |
7/7 |
- |
2 |
14-105410643-G-A |
c.11145C>T |
p.A3715= |
Synonymous |
7/7 |
- |
2 |
14-105410643-G-T |
c.11145C>A |
p.A3715= |
Synonymous |
7/7 |
- |
2 |
14-105410646-T-C |
c.11142A>G |
p.G3714= |
Synonymous |
7/7 |
- |
1 |
14-105410647-C-A |
c.11141G>T |
p.G3714V |
Missense |
7/7 |
- |
1 |
14-105410647-C-T |
c.11141G>A |
p.G3714E |
Missense |
7/7 |
- |
4 |
14-105410649-C-G |
c.11139G>C |
p.E3713D |
Missense |
7/7 |
- |
1 |
14-105410649-C-T |
c.11139G>A |
p.E3713= |
Synonymous |
7/7 |
- |
1 |
14-105410650-T-A |
c.11138A>T |
p.E3713V |
Missense |
7/7 |
- |
1 |
14-105410651-C-G |
c.11137G>C |
p.E3713Q |
Missense |
7/7 |
- |
2 |
14-105410651-C-T |
c.11137G>A |
p.E3713K |
Missense |
7/7 |
- |
4 |
14-105410652-G-A |
c.11136C>T |
p.P3712= |
Synonymous |
7/7 |
- |
2 |
14-105410652-G-C |
c.11136C>G |
p.P3712= |
Synonymous |
7/7 |
- |
2 |
14-105410652-G-T |
c.11136C>A |
p.P3712= |
Synonymous |
7/7 |
- |
3 |
14-105410657-C-A |
c.11131G>T |
p.V3711L |
Missense |
7/7 |
- |
1 |
14-105410657-C-G |
c.11131G>C |
p.V3711L |
Missense |
7/7 |
- |
1 |
14-105410658-C-A |
c.11130G>T |
p.Q3710H |
Missense |
7/7 |
- |
2 |
14-105410658-C-G |
c.11130G>C |
p.Q3710H |
Missense |
7/7 |
- |
2 |
14-105410661-G-A |
c.11127C>T |
p.G3709= |
Synonymous |
7/7 |
- |
1 |
14-105410662-C-G |
c.11126G>C |
p.G3709A |
Missense |
7/7 |
- |
1 |
14-105410662-C-T |
c.11126G>A |
p.G3709D |
Missense |
7/7 |
- |
3 |
14-105410666-C-A |
c.11122G>T |
p.E3708* |
Nonsense |
7/7 |
- |
1 |
14-105410668-G-A |
c.11120C>T |
p.P3707L |
Missense |
7/7 |
- |
5 |
14-105410673-C-T |
c.11115G>A |
p.K3705= |
Synonymous |
7/7 |
- |
1 |
14-105410675-T-C |
c.11113A>G |
p.K3705E |
Missense |
7/7 |
- |
1 |
14-105410689-C-G |
c.11099G>C |
p.G3700A |
Missense |
7/7 |
- |
1 |
14-105410693-C-T |
c.11095G>A |
p.A3699T |
Missense |
7/7 |
- |
1 |
14-105410694-C-A |
c.11094G>T |
p.Q3698H |
Missense |
7/7 |
- |
1 |
14-105410694-C-G |
c.11094G>C |
p.Q3698H |
Missense |
7/7 |
- |
2 |
14-105410695-T-C |
c.11093A>G |
p.Q3698R |
Missense |
7/7 |
- |
1 |
14-105410706-G-A |
c.11082C>T |
p.D3694= |
Synonymous |
7/7 |
- |
1 |
14-105410708-C-A |
c.11080G>T |
p.D3694Y |
Missense |
7/7 |
- |
3 |
14-105410716-G-A |
c.11072C>T |
p.P3691L |
Missense |
7/7 |
- |
1 |
14-105410716-G-T |
c.11072C>A |
p.P3691H |
Missense |
7/7 |
- |
1 |
14-105410723-G-A |
c.11065C>T |
p.Q3689* |
Nonsense |
7/7 |
- |
1 |
14-105410726-T-A |
c.11062A>T |
p.I3688F |
Missense |
7/7 |
- |
1 |
14-105410726-T-C |
c.11062A>G |
p.I3688V |
Missense |
7/7 |
- |
1 |
14-105410729-T-C |
c.11059A>G |
p.S3687G |
Missense |
7/7 |
- |
1 |
14-105410730-G-A |
c.11058C>T |
p.L3686= |
Synonymous |
7/7 |
- |
4 |
14-105410730-G-C |
c.11058C>G |
p.L3686= |
Synonymous |
7/7 |
- |
3 |
14-105410730-G-T |
c.11058C>A |
p.L3686= |
Synonymous |
7/7 |
- |
2 |
14-105410739-G-A |
c.11049C>T |
p.T3683= |
Synonymous |
7/7 |
- |
1 |
14-105410739-G-C |
c.11049C>G |
p.T3683= |
Synonymous |
7/7 |
- |
1 |
14-105410739-G-T |
c.11049C>A |
p.T3683= |
Synonymous |
7/7 |
- |
1 |
14-105410741-T-C |
c.11047A>G |
p.T3683A |
Missense |
7/7 |
- |
2 |
14-105410745-C-A |
c.11043G>T |
p.L3681= |
Synonymous |
7/7 |
- |
2 |
14-105410745-C-G |
c.11043G>C |
p.L3681= |
Synonymous |
7/7 |
- |
4 |
14-105410745-C-T |
c.11043G>A |
p.L3681= |
Synonymous |
7/7 |
- |
2 |
14-105410747-G-A |
c.11041C>T |
p.L3681= |
Synonymous |
7/7 |
- |
2 |
14-105410748-G-C |
c.11040C>G |
p.D3680E |
Missense |
7/7 |
- |
2 |
14-105410748-G-T |
c.11040C>A |
p.D3680E |
Missense |
7/7 |
- |
2 |
14-105410750-C-T |
c.11038G>A |
p.D3680N |
Missense |
7/7 |
- |
1 |
14-105410751-C-A |
c.11037G>T |
p.G3679= |
Synonymous |
7/7 |
- |
1 |
14-105410751-C-G |
c.11037G>C |
p.G3679= |
Synonymous |
7/7 |
- |
1 |
14-105410752-C-G |
c.11036G>C |
p.G3679A |
Missense |
7/7 |
- |
1 |
14-105410761-G-A |
c.11027C>T |
p.S3676F |
Missense |
7/7 |
- |
4 |
14-105410761-G-T |
c.11027C>A |
p.S3676Y |
Missense |
7/7 |
- |
1 |
14-105410763-G-T |
c.11025C>A |
p.P3675= |
Synonymous |
7/7 |
- |
1 |
14-105410768-G-C |
c.11020C>G |
p.L3674V |
Missense |
7/7 |
- |
1 |
14-105410769-A-G |
c.11019T>C |
p.S3673= |
Synonymous |
7/7 |
- |
1 |
14-105410770-C-G |
c.11018G>C |
p.S3673T |
Missense |
7/7 |
- |
1 |
14-105410771-T-G |
c.11017A>C |
p.S3673R |
Missense |
7/7 |
- |
1 |
14-105410772-C-A |
c.11016G>T |
p.V3672= |
Synonymous |
7/7 |
- |
1 |
14-105410772-C-G |
c.11016G>C |
p.V3672= |
Synonymous |
7/7 |
- |
2 |
14-105410772-C-T |
c.11016G>A |
p.V3672= |
Synonymous |
7/7 |
- |
1 |
14-105410774-C-A |
c.11014G>T |
p.V3672L |
Missense |
7/7 |
- |
2 |
14-105410774-C-G |
c.11014G>C |
p.V3672L |
Missense |
7/7 |
- |
2 |
14-105410775-A-G |
c.11013T>C |
p.D3671= |
Synonymous |
7/7 |
- |
16 |
14-105410776-T-A |
c.11012A>T |
p.D3671V |
Missense |
7/7 |
- |
4 |
14-105410777-C-T |
c.11011G>A |
p.D3671N |
Missense |
7/7 |
- |
3 |
14-105410781-T-C |
c.11007A>G |
p.E3669= |
Synonymous |
7/7 |
- |
1 |
14-105410784-C-A |
c.11004G>T |
p.V3668= |
Synonymous |
7/7 |
- |
2 |
14-105410784-C-G |
c.11004G>C |
p.V3668= |
Synonymous |
7/7 |
- |
2 |
14-105410784-C-T |
c.11004G>A |
p.V3668= |
Synonymous |
7/7 |
- |
2 |
14-105410798-A-G |
c.10990T>C |
p.S3664P |
Missense |
7/7 |
- |
2 |
14-105410802-A-G |
c.10986T>C |
p.D3662= |
Synonymous |
7/7 |
- |
2 |
14-105410803-T-C |
c.10985A>G |
p.D3662G |
Missense |
7/7 |
- |
2 |
14-105410804-C-G |
c.10984G>C |
p.D3662H |
Missense |
7/7 |
- |
1 |
14-105410805-C-T |
c.10983G>A |
p.V3661= |
Synonymous |
7/7 |
- |
1 |
14-105410807-C-A |
c.10981G>T |
p.V3661L |
Missense |
7/7 |
- |
1 |
14-105410807-C-G |
c.10981G>C |
p.V3661L |
Missense |
7/7 |
- |
1 |
14-105410809-G-A |
c.10979C>T |
p.S3660L |
Missense |
7/7 |
- |
2 |
14-105410812-G-A |
c.10976C>T |
p.A3659V |
Missense |
7/7 |
- |
2 |
14-105410813-C-A |
c.10975G>T |
p.A3659S |
Missense |
7/7 |
- |
1 |
14-105410817-C-A |
c.10971G>T |
p.M3657I |
Missense |
7/7 |
- |
2 |
14-105410817-C-G |
c.10971G>C |
p.M3657I |
Missense |
7/7 |
- |
2 |
14-105410817-C-T |
c.10971G>A |
p.M3657I |
Missense |
7/7 |
- |
1 |
14-105410818-A-G |
c.10970T>C |
p.M3657T |
Missense |
7/7 |
- |
1 |
14-105410821-G-A |
c.10967C>T |
p.S3656F |
Missense |
7/7 |
- |
3 |
14-105410826-C-A |
c.10962G>T |
p.G3654= |
Synonymous |
7/7 |
- |
2 |
14-105410826-C-G |
c.10962G>C |
p.G3654= |
Synonymous |
7/7 |
- |
2 |
14-105410826-C-T |
c.10962G>A |
p.G3654= |
Synonymous |
7/7 |
- |
4 |
14-105410827-C-T |
c.10961G>A |
p.G3654E |
Missense |
7/7 |
- |
30 |
14-105410832-G-A |
c.10956C>T |
p.A3652= |
Synonymous |
7/7 |
- |
1 |
14-105410833-G-C |
c.10955C>G |
p.A3652G |
Missense |
7/7 |
- |
2 |
14-105410834-C-A |
c.10954G>T |
p.A3652S |
Missense |
7/7 |
- |
1 |
14-105410836-G-A |
c.10952C>T |
p.S3651L |
Missense |
7/7 |
- |
9 |
14-105410836-G-C |
c.10952C>G |
p.S3651W |
Missense |
7/7 |
- |
2 |
14-105410841-CCCTGAATGACGGCATCTTGAA-C |
c.10927_10947del |
p.F3643_R3649del |
InFrameDeletion |
7/7 |
- |
1 |
14-105410842-C-A |
c.10946G>T |
p.R3649M |
Missense |
7/7 |
- |
1 |
14-105410843-T-C |
c.10945A>G |
p.R3649G |
Missense |
7/7 |
- |
3 |
14-105410844-G-A |
c.10944C>T |
p.F3648= |
Synonymous |
7/7 |
- |
1 |
14-105410844-G-T |
c.10944C>A |
p.F3648L |
Missense |
7/7 |
- |
6 |
14-105410844-G-C |
c.10944C>G |
p.F3648L |
Missense |
7/7 |
- |
4 |
14-105410846-A-G |
c.10942T>C |
p.F3648L |
Missense |
7/7 |
- |
5 |
14-105410848-G-C |
c.10940C>G |
p.S3647* |
Nonsense |
7/7 |
- |
1 |
14-105410848-G-T |
c.10940C>A |
p.S3647* |
Nonsense |
7/7 |
- |
1 |
14-105410850-C-A |
c.10938G>T |
p.P3646= |
Synonymous |
7/7 |
- |
1 |
14-105410850-C-G |
c.10938G>C |
p.P3646= |
Synonymous |
7/7 |
- |
1 |
14-105410850-C-T |
c.10938G>A |
p.P3646= |
Synonymous |
7/7 |
- |
2 |
14-105410851-G-A |
c.10937C>T |
p.P3646L |
Missense |
7/7 |
- |
1 |
14-105410852-G-A |
c.10936C>T |
p.P3646S |
Missense |
7/7 |
- |
4 |
14-105410862-T-C |
c.10926A>G |
p.K3642= |
Synonymous |
7/7 |
- |
3 |
14-105410867-G-A |
c.10921C>T |
p.P3641S |
Missense |
7/7 |
- |
1 |
14-105410867-G-T |
c.10921C>A |
p.P3641T |
Missense |
7/7 |
- |
1 |
14-105410874-G-C |
c.10914C>G |
p.F3638L |
Missense |
7/7 |
- |
1 |
14-105410874-G-T |
c.10914C>A |
p.F3638L |
Missense |
7/7 |
- |
1 |
14-105410876-A-G |
c.10912T>C |
p.F3638L |
Missense |
7/7 |
- |
1 |
14-105410877-C-A |
c.10911G>T |
p.K3637N |
Missense |
7/7 |
- |
1 |
14-105410877-C-G |
c.10911G>C |
p.K3637N |
Missense |
7/7 |
- |
1 |
14-105410882-T-C |
c.10906A>G |
p.S3636G |
Missense |
7/7 |
- |
1 |
14-105410888-T-C |
c.10900A>G |
p.K3634E |
Missense |
7/7 |
- |
1 |
14-105410890-G-A |
c.10898C>T |
p.A3633V |
Missense |
7/7 |
- |
1 |
14-105410891-C-G |
c.10897G>C |
p.A3633P |
Missense |
7/7 |
- |
1 |
14-105410893-G-A |
c.10895C>T |
p.T3632I |
Missense |
7/7 |
- |
1 |
14-105410897-C-A |
c.10891G>T |
p.V3631L |
Missense |
7/7 |
- |
1 |
14-105410897-C-G |
c.10891G>C |
p.V3631L |
Missense |
7/7 |
- |
1 |
14-105410897-C-T |
c.10891G>A |
p.V3631M |
Missense |
7/7 |
- |
6 |
14-105410898-G-A |
c.10890C>T |
p.D3630= |
Synonymous |
7/7 |
- |
3 |
14-105410898-G-C |
c.10890C>G |
p.D3630E |
Missense |
7/7 |
- |
2 |
14-105410898-G-T |
c.10890C>A |
p.D3630E |
Missense |
7/7 |
- |
2 |
14-105410900-C-G |
c.10888G>C |
p.D3630H |
Missense |
7/7 |
- |
1 |
14-105410901-C-A |
c.10887G>T |
p.K3629N |
Missense |
7/7 |
- |
3 |
14-105410901-C-G |
c.10887G>C |
p.K3629N |
Missense |
7/7 |
- |
2 |
14-105410901-C-T |
c.10887G>A |
p.K3629= |
Synonymous |
7/7 |
- |
3 |
14-105410905-T-A |
c.10883A>T |
p.D3628V |
Missense |
7/7 |
- |
1 |
14-105410907-A-C |
c.10881T>G |
p.A3627= |
Synonymous |
7/7 |
- |
4 |
14-105410907-A-G |
c.10881T>C |
p.A3627= |
Synonymous |
7/7 |
- |
4 |
14-105410907-A-T |
c.10881T>A |
p.A3627= |
Synonymous |
7/7 |
- |
4 |
14-105410913-G-A |
c.10875C>T |
p.S3625= |
Synonymous |
7/7 |
- |
2 |
14-105410914-G-A |
c.10874C>T |
p.S3625F |
Missense |
7/7 |
- |
2 |
14-105410914-G-C |
c.10874C>G |
p.S3625C |
Missense |
7/7 |
- |
2 |
14-105410922-T-A |
c.10866A>T |
p.G3622= |
Synonymous |
7/7 |
- |
1 |
14-105410922-T-C |
c.10866A>G |
p.G3622= |
Synonymous |
7/7 |
- |
1 |
14-105410923-C-G |
c.10865G>C |
p.G3622A |
Missense |
7/7 |
- |
1 |
14-105410925-C-A |
c.10863G>T |
p.E3621D |
Missense |
7/7 |
- |
4 |
14-105410925-C-G |
c.10863G>C |
p.E3621D |
Missense |
7/7 |
- |
1 |
14-105410927-C-A |
c.10861G>T |
p.E3621* |
Nonsense |
7/7 |
- |
1 |
14-105410932-C-T |
c.10856G>A |
p.R3619Q |
Missense |
7/7 |
- |
2 |
14-105410933-G-A |
c.10855C>T |
p.R3619W |
Missense |
7/7 |
- |
1 |
14-105410936-C-G |
c.10852G>C |
p.G3618R |
Missense |
7/7 |
- |
1 |
14-105410936-C-T |
c.10852G>A |
p.G3618R |
Missense |
7/7 |
- |
1 |
14-105410940-A-C |
c.10848T>G |
p.D3616E |
Missense |
7/7 |
- |
1 |
14-105410940-A-T |
c.10848T>A |
p.D3616E |
Missense |
7/7 |
- |
1 |
14-105410942-C-G |
c.10846G>C |
p.D3616H |
Missense |
7/7 |
- |
3 |
14-105410953-T-G |
c.10835A>C |
p.K3612T |
Missense |
7/7 |
- |
3 |
14-105410955-CG-C |
c.10832del |
p.P3611Rfs*21 |
Frameshift |
7/7 |
- |
1 |
14-105410960-C-A |
c.10828G>T |
p.A3610S |
Missense |
7/7 |
- |
1 |
14-105410961-C-A |
c.10827G>T |
p.Q3609H |
Missense |
7/7 |
- |
1 |
14-105410961-C-G |
c.10827G>C |
p.Q3609H |
Missense |
7/7 |
- |
1 |
14-105410963-G-C |
c.10825C>G |
p.Q3609E |
Missense |
7/7 |
- |
1 |
14-105410967-A-G |
c.10821T>C |
p.D3607= |
Synonymous |
7/7 |
- |
1 |
14-105410970-C-A |
c.10818G>T |
p.V3606= |
Synonymous |
7/7 |
- |
1 |
14-105410970-C-G |
c.10818G>C |
p.V3606= |
Synonymous |
7/7 |
- |
1 |
14-105410970-C-T |
c.10818G>A |
p.V3606= |
Synonymous |
7/7 |
- |
2 |
14-105410975-C-T |
c.10813G>A |
p.E3605K |
Missense |
7/7 |
- |
1 |
14-105410978-C-T |
c.10810G>A |
p.V3604M |
Missense |
7/7 |
- |
2 |
14-105410979-G-C |
c.10809C>G |
p.S3603R |
Missense |
7/7 |
- |
2 |
14-105410979-G-T |
c.10809C>A |
p.S3603R |
Missense |
7/7 |
- |
2 |
14-105410981-T-G |
c.10807A>C |
p.S3603R |
Missense |
7/7 |
- |
2 |
14-105410980-C-T |
c.10808G>A |
p.S3603N |
Missense |
7/7 |
- |
2 |
14-105410984-G-T |
c.10804C>A |
p.P3602T |
Missense |
7/7 |
- |
1 |
14-105410985-C-A |
c.10803G>T |
p.L3601= |
Synonymous |
7/7 |
- |
1 |
14-105410985-C-G |
c.10803G>C |
p.L3601= |
Synonymous |
7/7 |
- |
1 |
14-105410985-C-T |
c.10803G>A |
p.L3601= |
Synonymous |
7/7 |
- |
1 |
14-105410987-G-A |
c.10801C>T |
p.L3601= |
Synonymous |
7/7 |
- |
1 |
14-105410995-T-C |
c.10793A>G |
p.E3598G |
Missense |
7/7 |
- |
1 |
14-105410996-C-T |
c.10792G>A |
p.E3598K |
Missense |
7/7 |
- |
1 |
14-105410997-G-A |
c.10791C>T |
p.V3597= |
Synonymous |
7/7 |
- |
5 |
14-105410997-G-C |
c.10791C>G |
p.V3597= |
Synonymous |
7/7 |
- |
4 |
14-105410997-G-T |
c.10791C>A |
p.V3597= |
Synonymous |
7/7 |
- |
3 |
14-105411002-C-T |
c.10786G>A |
p.D3596N |
Missense |
7/7 |
- |
3 |
14-105411003-G-A |
c.10785C>T |
p.P3595= |
Synonymous |
7/7 |
- |
1 |
14-105411003-G-C |
c.10785C>G |
p.P3595= |
Synonymous |
7/7 |
- |
1 |
14-105411010-C-G |
c.10778G>C |
p.R3593T |
Missense |
7/7 |
- |
1 |
14-105411012-C-A |
c.10776G>T |
p.V3592= |
Synonymous |
7/7 |
- |
1 |
14-105411012-C-G |
c.10776G>C |
p.V3592= |
Synonymous |
7/7 |
- |
2 |
14-105411012-C-T |
c.10776G>A |
p.V3592= |
Synonymous |
7/7 |
- |
1 |
14-105411030-T-C |
c.10758A>G |
p.K3586= |
Synonymous |
7/7 |
- |
2 |
14-105411033-C-A |
c.10755G>T |
p.L3585= |
Synonymous |
7/7 |
- |
1 |
14-105411033-C-G |
c.10755G>C |
p.L3585= |
Synonymous |
7/7 |
- |
2 |
14-105411033-C-T |
c.10755G>A |
p.L3585= |
Synonymous |
7/7 |
- |
2 |
14-105411035-G-A |
c.10753C>T |
p.L3585= |
Synonymous |
7/7 |
- |
1 |
14-105411037-T-C |
c.10751A>G |
p.D3584G |
Missense |
7/7 |
- |
2 |
14-105411046-G-A |
c.10742C>T |
p.P3581L |
Missense |
7/7 |
- |
4 |
14-105411048-G-T |
c.10740C>A |
p.G3580= |
Synonymous |
7/7 |
- |
1 |
14-105411049-C-T |
c.10739G>A |
p.G3580D |
Missense |
7/7 |
- |
1 |
14-105411051-C-T |
c.10737G>A |
p.K3579= |
Synonymous |
7/7 |
- |
1 |
14-105411061-A-G |
c.10727T>C |
p.I3576T |
Missense |
7/7 |
- |
1 |
14-105411063-C-G |
c.10725G>C |
p.Q3575H |
Missense |
7/7 |
- |
1 |
14-105411071-C-T |
c.10717G>A |
p.G3573S |
Missense |
7/7 |
- |
2 |
14-105411077-G-A |
c.10711C>T |
p.L3571F |
Missense |
7/7 |
- |
3 |
14-105411084-T-A |
c.10704A>T |
p.K3568N |
Missense |
7/7 |
- |
1 |
14-105411084-T-G |
c.10704A>C |
p.K3568N |
Missense |
7/7 |
- |
1 |
14-105411090-C-A |
c.10698G>T |
p.T3566= |
Synonymous |
7/7 |
- |
2 |
14-105411090-C-G |
c.10698G>C |
p.T3566= |
Synonymous |
7/7 |
- |
2 |
14-105411090-CGT-ACA |
c.10696_10698delinsTGT |
p.T3566C |
Missense |
7/7 |
- |
1 |
14-105411090-C-T |
c.10698G>A |
p.T3566= |
Synonymous |
7/7 |
- |
3 |
14-105411091-G-A |
c.10697C>T |
p.T3566M |
Missense |
7/7 |
- |
3 |
14-105411096-T-A |
c.10692A>T |
p.L3564F |
Missense |
7/7 |
- |
2 |
14-105411096-T-G |
c.10692A>C |
p.L3564F |
Missense |
7/7 |
- |
3 |
14-105411096-T-C |
c.10692A>G |
p.L3564= |
Synonymous |
7/7 |
- |
1 |
14-105411098-A-G |
c.10690T>C |
p.L3564= |
Synonymous |
7/7 |
- |
1 |
14-105411103-G-A |
c.10685C>T |
p.P3562L |
Missense |
7/7 |
- |
2 |
14-105411103-G-T |
c.10685C>A |
p.P3562H |
Missense |
7/7 |
- |
1 |
14-105411120-C-A |
c.10668G>T |
p.L3556= |
Synonymous |
7/7 |
- |
1 |
14-105411120-C-G |
c.10668G>C |
p.L3556= |
Synonymous |
7/7 |
- |
1 |
14-105411120-C-T |
c.10668G>A |
p.L3556= |
Synonymous |
7/7 |
- |
1 |
14-105411122-G-A |
c.10666C>T |
p.L3556= |
Synonymous |
7/7 |
- |
1 |
14-105411126-C-T |
c.10662G>A |
p.G3554= |
Synonymous |
7/7 |
- |
2 |
14-105411127-C-T |
c.10661G>A |
p.G3554E |
Missense |
7/7 |
- |
2 |
14-105411132-G-A |
c.10656C>T |
p.L3552= |
Synonymous |
7/7 |
- |
2 |
14-105411132-G-C |
c.10656C>G |
p.L3552= |
Synonymous |
7/7 |
- |
1 |
14-105411132-G-T |
c.10656C>A |
p.L3552= |
Synonymous |
7/7 |
- |
1 |
14-105411137-C-A |
c.10651G>T |
p.G3551C |
Missense |
7/7 |
- |
1 |
14-105411137-C-G |
c.10651G>C |
p.G3551R |
Missense |
7/7 |
- |
1 |
14-105411137-C-T |
c.10651G>A |
p.G3551S |
Missense |
7/7 |
- |
4 |
14-105411145-T-C |
c.10643A>G |
p.E3548G |
Missense |
7/7 |
- |
1 |
14-105411146-C-T |
c.10642G>A |
p.E3548K |
Missense |
7/7 |
- |
1 |
14-105411152-C-T |
c.10636G>A |
p.V3546M |
Missense |
7/7 |
- |
3 |
14-105411153-G-A |
c.10635C>T |
p.P3545= |
Synonymous |
7/7 |
- |
12 |
14-105411153-G-C |
c.10635C>G |
p.P3545= |
Synonymous |
7/7 |
- |
11 |
14-105411153-G-T |
c.10635C>A |
p.P3545= |
Synonymous |
7/7 |
- |
1 |
14-105411156-G-A |
c.10632C>T |
p.G3544= |
Synonymous |
7/7 |
- |
3 |
14-105411156-G-C |
c.10632C>G |
p.G3544= |
Synonymous |
7/7 |
- |
3 |
14-105411156-G-T |
c.10632C>A |
p.G3544= |
Synonymous |
7/7 |
- |
3 |
14-105411158-C-A |
c.10630G>T |
p.G3544C |
Missense |
7/7 |
- |
1 |
14-105411161-C-A |
c.10627G>T |
p.E3543* |
Nonsense |
7/7 |
- |
1 |
14-105411162-C-G |
c.10626G>C |
p.L3542= |
Synonymous |
7/7 |
- |
1 |
14-105411162-C-T |
c.10626G>A |
p.L3542= |
Synonymous |
7/7 |
- |
2 |
14-105411163-A-G |
c.10625T>C |
p.L3542P |
Missense |
7/7 |
- |
3 |
14-105411167-G-A |
c.10621C>T |
p.L3541F |
Missense |
7/7 |
- |
1 |
14-105411170-C-A |
c.10618G>T |
p.E3540* |
Nonsense |
7/7 |
- |
1 |
14-105411172-A-C |
c.10616T>G |
p.V3539G |
Missense |
7/7 |
- |
1 |
14-105411177-C-A |
c.10611G>T |
p.V3537= |
Synonymous |
7/7 |
- |
1 |
14-105411177-C-T |
c.10611G>A |
p.V3537= |
Synonymous |
7/7 |
- |
2 |
14-105411180-T-C |
c.10608A>G |
p.Q3536= |
Synonymous |
7/7 |
- |
1 |
14-105411184-A-C |
c.10604T>G |
p.V3535G |
Missense |
7/7 |
- |
2 |
14-105411187-G-T |
c.10601C>A |
p.A3534D |
Missense |
7/7 |
- |
1 |
14-105411188-C-T |
c.10600G>A |
p.A3534T |
Missense |
7/7 |
- |
1 |
14-105411194-C-T |
c.10594G>A |
p.V3532I |
Missense |
7/7 |
- |
1 |
14-105411204-A-C |
c.10584T>G |
p.A3528= |
Synonymous |
7/7 |
- |
2 |
14-105411204-A-G |
c.10584T>C |
p.A3528= |
Synonymous |
7/7 |
- |
2 |
14-105411204-A-T |
c.10584T>A |
p.A3528= |
Synonymous |
7/7 |
- |
2 |
14-105411206-C-T |
c.10582G>A |
p.A3528T |
Missense |
7/7 |
- |
1 |
14-105411207-G-A |
c.10581C>T |
p.S3527= |
Synonymous |
7/7 |
- |
1 |
14-105411208-G-A |
c.10580C>T |
p.S3527F |
Missense |
7/7 |
- |
1 |
14-105411211-G-A |
c.10577C>T |
p.P3526L |
Missense |
7/7 |
- |
4 |
14-105411211-G-T |
c.10577C>A |
p.P3526H |
Missense |
7/7 |
- |
1 |
14-105411212-G-A |
c.10576C>T |
p.P3526S |
Missense |
7/7 |
- |
2 |
14-105411213-G-A |
c.10575C>T |
p.P3525= |
Synonymous |
7/7 |
- |
1 |
14-105411214-G-A |
c.10574C>T |
p.P3525L |
Missense |
7/7 |
- |
1 |
14-105411216-C-A |
c.10572G>T |
p.Q3524H |
Missense |
7/7 |
- |
1 |
14-105411216-C-G |
c.10572G>C |
p.Q3524H |
Missense |
7/7 |
- |
1 |
14-105411219-A-C |
c.10569T>G |
p.I3523M |
Missense |
7/7 |
- |
1 |
14-105411221-T-C |
c.10567A>G |
p.I3523V |
Missense |
7/7 |
- |
1 |
14-105411228-G-T |
c.10560C>A |
p.D3520E |
Missense |
7/7 |
- |
1 |
14-105411234-G-A |
c.10554C>T |
p.A3518= |
Synonymous |
7/7 |
- |
1 |
14-105411240-G-A |
c.10548C>T |
p.L3516= |
Synonymous |
7/7 |
- |
2 |
14-105411240-G-C |
c.10548C>G |
p.L3516= |
Synonymous |
7/7 |
- |
1 |
14-105411240-G-T |
c.10548C>A |
p.L3516= |
Synonymous |
7/7 |
- |
1 |
14-105411241-A-C |
c.10547T>G |
p.L3516R |
Missense |
7/7 |
- |
3 |
14-105411247-C-G |
c.10541G>C |
p.G3514A |
Missense |
7/7 |
- |
1 |
14-105411248-C-G |
c.10540G>C |
p.G3514R |
Missense |
7/7 |
- |
3 |
14-105411248-C-T |
c.10540G>A |
p.G3514R |
Missense |
7/7 |
- |
3 |
14-105411244-TC-T |
c.10543del |
p.D3515Tfs*50 |
Frameshift |
7/7 |
- |
1 |
14-105411250-T-G |
c.10538A>C |
p.Q3513P |
Missense |
7/7 |
- |
2 |
14-105411251-G-A |
c.10537C>T |
p.Q3513* |
Nonsense |
7/7 |
- |
2 |
14-105411255-G-A |
c.10533C>T |
p.S3511= |
Synonymous |
7/7 |
- |
5 |
14-105411255-G-C |
c.10533C>G |
p.S3511= |
Synonymous |
7/7 |
- |
2 |
14-105411255-G-T |
c.10533C>A |
p.S3511= |
Synonymous |
7/7 |
- |
2 |
14-105411256-G-A |
c.10532C>T |
p.S3511F |
Missense |
7/7 |
- |
3 |
14-105411256-G-C |
c.10532C>G |
p.S3511C |
Missense |
7/7 |
- |
2 |
14-105411258-G-A |
c.10530C>T |
p.S3510= |
Synonymous |
7/7 |
- |
1 |
14-105411259-G-T |
c.10529C>A |
p.S3510Y |
Missense |
7/7 |
- |
3 |
14-105411260-A-G |
c.10528T>C |
p.S3510P |
Missense |
7/7 |
- |
4 |
14-105411263-G-A |
c.10525C>T |
p.L3509F |
Missense |
7/7 |
- |
1 |
14-105411264-G-A |
c.10524C>T |
p.S3508= |
Synonymous |
7/7 |
- |
2 |
14-105411269-C-T |
c.10519G>A |
p.V3507M |
Missense |
7/7 |
- |
1 |
14-105411271-T-G |
c.10517A>C |
p.D3506A |
Missense |
7/7 |
- |
1 |
14-105411272-C-T |
c.10516G>A |
p.D3506N |
Missense |
7/7 |
- |
1 |
14-105411273-G-A |
c.10515C>T |
p.A3505= |
Synonymous |
7/7 |
- |
1 |
14-105411273-G-C |
c.10515C>G |
p.A3505= |
Synonymous |
7/7 |
- |
1 |
14-105411273-G-T |
c.10515C>A |
p.A3505= |
Synonymous |
7/7 |
- |
1 |
14-105411276-C-T |
c.10512G>A |
p.E3504= |
Synonymous |
7/7 |
- |
1 |
14-105411277-T-C |
c.10511A>G |
p.E3504G |
Missense |
7/7 |
- |
1 |
14-105411280-A-G |
c.10508T>C |
p.V3503A |
Missense |
7/7 |
- |
2 |
14-105411282-C-G |
c.10506G>C |
p.K3502N |
Missense |
7/7 |
- |
1 |
14-105411285-C-T |
c.10503G>A |
p.P3501= |
Synonymous |
7/7 |
- |
2 |
14-105411286-G-A |
c.10502C>T |
p.P3501L |
Missense |
7/7 |
- |
3 |
14-105411286-G-C |
c.10502C>G |
p.P3501R |
Missense |
7/7 |
- |
2 |
14-105411287-G-A |
c.10501C>T |
p.P3501S |
Missense |
7/7 |
- |
3 |
14-105411288-C-A |
c.10500G>T |
p.A3500= |
Synonymous |
7/7 |
- |
1 |
14-105411288-C-G |
c.10500G>C |
p.A3500= |
Synonymous |
7/7 |
- |
1 |
14-105411288-C-T |
c.10500G>A |
p.A3500= |
Synonymous |
7/7 |
- |
2 |
14-105411289-G-A |
c.10499C>T |
p.A3500V |
Missense |
7/7 |
- |
1 |
14-105411302-G-C |
c.10486C>G |
p.L3496V |
Missense |
7/7 |
- |
4 |
14-105411303-C-A |
c.10485G>T |
p.S3495= |
Synonymous |
7/7 |
- |
3 |
14-105411303-C-G |
c.10485G>C |
p.S3495= |
Synonymous |
7/7 |
- |
2 |
14-105411303-C-T |
c.10485G>A |
p.S3495= |
Synonymous |
7/7 |
- |
3 |
14-105411304-G-A |
c.10484C>T |
p.S3495L |
Missense |
7/7 |
- |
1 |
14-105411311-C-G |
c.10477G>C |
p.E3493Q |
Missense |
7/7 |
- |
1 |
14-105411311-C-T |
c.10477G>A |
p.E3493K |
Missense |
7/7 |
- |
1 |
14-105411312-G-A |
c.10476C>T |
p.I3492= |
Synonymous |
7/7 |
- |
1 |
14-105411319-C-T |
c.10469G>A |
p.R3490K |
Missense |
7/7 |
- |
4 |
14-105411324-T-A |
c.10464A>T |
p.P3488= |
Synonymous |
7/7 |
- |
2 |
14-105411324-T-C |
c.10464A>G |
p.P3488= |
Synonymous |
7/7 |
- |
2 |
14-105411324-T-G |
c.10464A>C |
p.P3488= |
Synonymous |
7/7 |
- |
2 |
14-105411328-G-A |
c.10460C>T |
p.A3487V |
Missense |
7/7 |
- |
1 |
14-105411330-C-A |
c.10458G>T |
p.S3486= |
Synonymous |
7/7 |
- |
3 |
14-105411330-C-G |
c.10458G>C |
p.S3486= |
Synonymous |
7/7 |
- |
2 |
14-105411330-C-T |
c.10458G>A |
p.S3486= |
Synonymous |
7/7 |
- |
2 |
14-105411331-G-A |
c.10457C>T |
p.S3486L |
Missense |
7/7 |
- |
1 |
14-105411334-A-G |
c.10454T>C |
p.V3485A |
Missense |
7/7 |
- |
1 |
14-105411335-C-A |
c.10453G>T |
p.V3485L |
Missense |
7/7 |
- |
2 |
14-105411335-C-G |
c.10453G>C |
p.V3485L |
Missense |
7/7 |
- |
1 |
14-105411336-C-A |
c.10452G>T |
p.G3484= |
Synonymous |
7/7 |
- |
1 |
14-105411336-C-G |
c.10452G>C |
p.G3484= |
Synonymous |
7/7 |
- |
2 |
14-105411336-C-T |
c.10452G>A |
p.G3484= |
Synonymous |
7/7 |
- |
1 |
14-105411338-C-G |
c.10450G>C |
p.G3484R |
Missense |
7/7 |
- |
2 |
14-105411338-C-T |
c.10450G>A |
p.G3484R |
Missense |
7/7 |
- |
2 |
14-105411339-G-A |
c.10449C>T |
p.F3483= |
Synonymous |
7/7 |
- |
2 |
14-105411339-G-C |
c.10449C>G |
p.F3483L |
Missense |
7/7 |
- |
1 |
14-105411339-G-T |
c.10449C>A |
p.F3483L |
Missense |
7/7 |
- |
1 |
14-105411341-A-G |
c.10447T>C |
p.F3483L |
Missense |
7/7 |
- |
1 |
14-105411342-G-A |
c.10446C>T |
p.S3482= |
Synonymous |
7/7 |
- |
1 |
14-105411342-G-C |
c.10446C>G |
p.S3482= |
Synonymous |
7/7 |
- |
1 |
14-105411342-G-T |
c.10446C>A |
p.S3482= |
Synonymous |
7/7 |
- |
1 |
14-105411343-G-A |
c.10445C>T |
p.S3482F |
Missense |
7/7 |
- |
1 |
14-105411345-G-A |
c.10443C>T |
p.P3481= |
Synonymous |
7/7 |
- |
2 |
14-105411345-G-C |
c.10443C>G |
p.P3481= |
Synonymous |
7/7 |
- |
2 |
14-105411345-G-T |
c.10443C>A |
p.P3481= |
Synonymous |
7/7 |
- |
2 |
14-105411346-G-A |
c.10442C>T |
p.P3481L |
Missense |
7/7 |
- |
1 |
14-105411354-G-A |
c.10434C>T |
p.F3478= |
Synonymous |
7/7 |
- |
1 |
14-105411354-G-C |
c.10434C>G |
p.F3478L |
Missense |
7/7 |
- |
5 |
14-105411354-G-T |
c.10434C>A |
p.F3478L |
Missense |
7/7 |
- |
4 |
14-105411356-A-G |
c.10432T>C |
p.F3478L |
Missense |
7/7 |
- |
4 |
14-105411357-C-T |
c.10431G>A |
p.K3477= |
Synonymous |
7/7 |
- |
2 |
14-105411358-T-G |
c.10430A>C |
p.K3477T |
Missense |
7/7 |
- |
1 |
14-105411362-G-A |
c.10426C>T |
p.P3476S |
Missense |
7/7 |
- |
3 |
14-105411363-C-A |
c.10425G>T |
p.M3475I |
Missense |
7/7 |
- |
3 |
14-105411363-C-G |
c.10425G>C |
p.M3475I |
Missense |
7/7 |
- |
3 |
14-105411363-C-T |
c.10425G>A |
p.M3475I |
Missense |
7/7 |
- |
3 |
14-105411367-T-C |
c.10421A>G |
p.K3474R |
Missense |
7/7 |
- |
2 |
14-105411368-T-C |
c.10420A>G |
p.K3474E |
Missense |
7/7 |
- |
1 |
14-105411369-G-A |
c.10419C>T |
p.F3473= |
Synonymous |
7/7 |
- |
1 |
14-105411372-C-T |
c.10416G>A |
p.K3472= |
Synonymous |
7/7 |
- |
2 |
14-105411373-T-C |
c.10415A>G |
p.K3472R |
Missense |
7/7 |
- |
2 |
14-105411380-C-T |
c.10408G>A |
p.D3470N |
Missense |
7/7 |
- |
3 |
14-105411393-A-G |
c.10395T>C |
p.D3465= |
Synonymous |
7/7 |
- |
2 |
14-105411399-T-A |
c.10389A>T |
p.E3463D |
Missense |
7/7 |
- |
1 |
14-105411399-T-G |
c.10389A>C |
p.E3463D |
Missense |
7/7 |
- |
3 |
14-105411402-A-G |
c.10386T>C |
p.A3462= |
Synonymous |
7/7 |
- |
1 |
14-105411407-G-C |
c.10381C>G |
p.L3461V |
Missense |
7/7 |
- |
1 |
14-105411416-C-T |
c.10372G>A |
p.D3458N |
Missense |
7/7 |
- |
1 |
14-105411418-C-G |
c.10370G>C |
p.G3457A |
Missense |
7/7 |
- |
1 |
14-105411420-C-A |
c.10368G>T |
p.E3456D |
Missense |
7/7 |
- |
1 |
14-105411420-C-G |
c.10368G>C |
p.E3456D |
Missense |
7/7 |
- |
1 |
14-105411422-C-G |
c.10366G>C |
p.E3456Q |
Missense |
7/7 |
- |
1 |
14-105411422-C-T |
c.10366G>A |
p.E3456K |
Missense |
7/7 |
- |
1 |
14-105411428-G-A |
c.10360C>T |
p.R3454W |
Missense |
7/7 |
- |
1 |
14-105411429-C-A |
c.10359G>T |
p.A3453= |
Synonymous |
7/7 |
- |
1 |
14-105411429-C-G |
c.10359G>C |
p.A3453= |
Synonymous |
7/7 |
- |
1 |
14-105411429-C-T |
c.10359G>A |
p.A3453= |
Synonymous |
7/7 |
- |
2 |
14-105411444-G-A |
c.10344C>T |
p.A3448= |
Synonymous |
7/7 |
- |
1 |
14-105411444-G-C |
c.10344C>G |
p.A3448= |
Synonymous |
7/7 |
- |
1 |
14-105411444-G-T |
c.10344C>A |
p.A3448= |
Synonymous |
7/7 |
- |
2 |
14-105411449-T-C |
c.10339A>G |
p.R3447G |
Missense |
7/7 |
- |
1 |
14-105411450-C-A |
c.10338G>T |
p.P3446= |
Synonymous |
7/7 |
- |
3 |
14-105411450-C-G |
c.10338G>C |
p.P3446= |
Synonymous |
7/7 |
- |
1 |
14-105411450-C-T |
c.10338G>A |
p.P3446= |
Synonymous |
7/7 |
- |
1 |
14-105411453-G-A |
c.10335C>T |
p.A3445= |
Synonymous |
7/7 |
- |
1 |
14-105411454-G-A |
c.10334C>T |
p.A3445V |
Missense |
7/7 |
- |
3 |
14-105411457-T-A |
c.10331A>T |
p.Q3444L |
Missense |
7/7 |
- |
1 |
14-105411458-G-C |
c.10330C>G |
p.Q3444E |
Missense |
7/7 |
- |
2 |
14-105411461-C-T |
c.10327G>A |
p.V3443I |
Missense |
7/7 |
- |
1 |
14-105411462-G-A |
c.10326C>T |
p.D3442= |
Synonymous |
7/7 |
- |
3 |
14-105411464-C-G |
c.10324G>C |
p.D3442H |
Missense |
7/7 |
- |
1 |
14-105411464-C-T |
c.10324G>A |
p.D3442N |
Missense |
7/7 |
- |
1 |
14-105411470-C-G |
c.10318G>C |
p.E3440Q |
Missense |
7/7 |
- |
1 |
14-105411473-C-T |
c.10315G>A |
p.V3439M |
Missense |
7/7 |
- |
1 |
14-105411474-G-A |
c.10314C>T |
p.S3438= |
Synonymous |
7/7 |
- |
1 |
14-105411475-C-T |
c.10313G>A |
p.S3438N |
Missense |
7/7 |
- |
1 |
14-105411479-G-A |
c.10309C>T |
p.P3437S |
Missense |
7/7 |
- |
2 |
14-105411484-G-A |
c.10304C>T |
p.S3435F |
Missense |
7/7 |
- |
5 |
14-105411486-C-A |
c.10302G>T |
p.V3434= |
Synonymous |
7/7 |
- |
1 |
14-105411490-T-C |
c.10298A>G |
p.E3433G |
Missense |
7/7 |
- |
1 |
14-105411492-C-A |
c.10296G>T |
p.V3432= |
Synonymous |
7/7 |
- |
3 |
14-105411492-C-G |
c.10296G>C |
p.V3432= |
Synonymous |
7/7 |
- |
4 |
14-105411492-C-T |
c.10296G>A |
p.V3432= |
Synonymous |
7/7 |
- |
2 |
14-105411498-A-G |
c.10290T>C |
p.P3430= |
Synonymous |
7/7 |
- |
1 |
14-105411506-T-C |
c.10282A>G |
p.T3428A |
Missense |
7/7 |
- |
4 |
14-105411514-G-A |
c.10274C>T |
p.A3425V |
Missense |
7/7 |
- |
3 |
14-105411520-G-A |
c.10268C>T |
p.P3423L |
Missense |
7/7 |
- |
3 |
14-105411521-G-A |
c.10267C>T |
p.P3423S |
Missense |
7/7 |
- |
3 |
14-105411522-G-A |
c.10266C>T |
p.V3422= |
Synonymous |
7/7 |
- |
1 |
14-105411522-G-C |
c.10266C>G |
p.V3422= |
Synonymous |
7/7 |
- |
1 |
14-105411522-G-T |
c.10266C>A |
p.V3422= |
Synonymous |
7/7 |
- |
1 |
14-105411526-T-C |
c.10262A>G |
p.K3421R |
Missense |
7/7 |
- |
1 |
14-105411531-G-A |
c.10257C>T |
p.D3419= |
Synonymous |
7/7 |
- |
1 |
14-105411534-C-A |
c.10254G>T |
p.L3418= |
Synonymous |
7/7 |
- |
1 |
14-105411534-C-G |
c.10254G>C |
p.L3418= |
Synonymous |
7/7 |
- |
1 |
14-105411534-C-T |
c.10254G>A |
p.L3418= |
Synonymous |
7/7 |
- |
1 |
14-105411536-G-A |
c.10252C>T |
p.L3418= |
Synonymous |
7/7 |
- |
1 |
14-105411539-T-C |
c.10249A>G |
p.K3417E |
Missense |
7/7 |
- |
1 |
14-105411543-G-A |
c.10245C>T |
p.G3415= |
Synonymous |
7/7 |
- |
1 |
14-105411543-GC-CT |
c.10244_10245delinsAG |
p.G3415E |
Missense |
7/7 |
- |
1 |
14-105411544-C-A |
c.10244G>T |
p.G3415V |
Missense |
7/7 |
- |
1 |
14-105411544-CC-TT |
c.10243_10244delinsAA |
p.G3415N |
Missense |
7/7 |
- |
2 |
14-105411544-C-T |
c.10244G>A |
p.G3415D |
Missense |
7/7 |
- |
3 |
14-105411545-C-T |
c.10243G>A |
p.G3415S |
Missense |
7/7 |
- |
1 |
14-105411546-C-T |
c.10242G>A |
p.K3414= |
Synonymous |
7/7 |
- |
1 |
14-105411551-T-C |
c.10237A>G |
p.I3413V |
Missense |
7/7 |
- |
1 |
14-105411555-C-T |
c.10233G>A |
p.V3411= |
Synonymous |
7/7 |
- |
1 |
14-105411557-C-T |
c.10231G>A |
p.V3411M |
Missense |
7/7 |
- |
6 |
14-105411558-C-A |
c.10230G>T |
p.Q3410H |
Missense |
7/7 |
- |
1 |
14-105411564-G-A |
c.10224C>T |
p.S3408= |
Synonymous |
7/7 |
- |
2 |
14-105411566-T-C |
c.10222A>G |
p.S3408G |
Missense |
7/7 |
- |
2 |
14-105411567-C-A |
c.10221G>T |
p.K3407N |
Missense |
7/7 |
- |
1 |
14-105411567-C-G |
c.10221G>C |
p.K3407N |
Missense |
7/7 |
- |
1 |
14-105411571-A-C |
c.10217T>G |
p.L3406R |
Missense |
7/7 |
- |
1 |
14-105411573-G-A |
c.10215C>T |
p.D3405= |
Synonymous |
7/7 |
- |
1 |
14-105411573-G-C |
c.10215C>G |
p.D3405E |
Missense |
7/7 |
- |
1 |
14-105411573-G-T |
c.10215C>A |
p.D3405E |
Missense |
7/7 |
- |
1 |
14-105411576-C-T |
c.10212G>A |
p.V3404= |
Synonymous |
7/7 |
- |
3 |
14-105411580-T-C |
c.10208A>G |
p.K3403R |
Missense |
7/7 |
- |
1 |
14-105411585-C-A |
c.10203G>T |
p.M3401I |
Missense |
7/7 |
- |
1 |
14-105411586-A-G |
c.10202T>C |
p.M3401T |
Missense |
7/7 |
- |
1 |
14-105411588-C-A |
c.10200G>T |
p.K3400N |
Missense |
7/7 |
- |
1 |
14-105411590-T-G |
c.10198A>C |
p.K3400Q |
Missense |
7/7 |
- |
1 |
14-105411603-C-T |
c.10185G>A |
p.E3395= |
Synonymous |
7/7 |
- |
1 |
14-105411605-C-G |
c.10183G>C |
p.E3395Q |
Missense |
7/7 |
- |
6 |
14-105411605-C-T |
c.10183G>A |
p.E3395K |
Missense |
7/7 |
- |
1 |
14-105411608-C-A |
c.10180G>T |
p.V3394L |
Missense |
7/7 |
- |
1 |
14-105411614-G-A |
c.10174C>T |
p.P3392S |
Missense |
7/7 |
- |
3 |
14-105411615-C-T |
c.10173G>A |
p.L3391= |
Synonymous |
7/7 |
- |
1 |
14-105411618-G-A |
c.10170C>T |
p.H3390= |
Synonymous |
7/7 |
- |
2 |
14-105411619-T-C |
c.10169A>G |
p.H3390R |
Missense |
7/7 |
- |
1 |
14-105411621-C-A |
c.10167G>T |
p.G3389= |
Synonymous |
7/7 |
- |
1 |
14-105411621-C-G |
c.10167G>C |
p.G3389= |
Synonymous |
7/7 |
- |
1 |
14-105411621-C-T |
c.10167G>A |
p.G3389= |
Synonymous |
7/7 |
- |
1 |
14-105411627-G-A |
c.10161C>T |
p.L3387= |
Synonymous |
7/7 |
- |
1 |
14-105411627-G-C |
c.10161C>G |
p.L3387= |
Synonymous |
7/7 |
- |
1 |
14-105411627-G-T |
c.10161C>A |
p.L3387= |
Synonymous |
7/7 |
- |
1 |
14-105411632-C-G |
c.10156G>C |
p.G3386R |
Missense |
7/7 |
- |
1 |
14-105411632-C-T |
c.10156G>A |
p.G3386S |
Missense |
7/7 |
- |
1 |
14-105411633-A-T |
c.10155T>A |
p.A3385= |
Synonymous |
7/7 |
- |
1 |
14-105411634-G-A |
c.10154C>T |
p.A3385V |
Missense |
7/7 |
- |
3 |
14-105411635-C-T |
c.10153G>A |
p.A3385T |
Missense |
7/7 |
- |
1 |
14-105411636-T-A |
c.10152A>T |
p.G3384= |
Synonymous |
7/7 |
- |
1 |
14-105411636-T-C |
c.10152A>G |
p.G3384= |
Synonymous |
7/7 |
- |
1 |
14-105411636-T-G |
c.10152A>C |
p.G3384= |
Synonymous |
7/7 |
- |
1 |
14-105411638-C-G |
c.10150G>C |
p.G3384R |
Missense |
7/7 |
- |
1 |
14-105411638-C-T |
c.10150G>A |
p.G3384R |
Missense |
7/7 |
- |
1 |
14-105411641-C-T |
c.10147G>A |
p.E3383K |
Missense |
7/7 |
- |
4 |
14-105411642-G-A |
c.10146C>T |
p.P3382= |
Synonymous |
7/7 |
- |
2 |
14-105411642-G-C |
c.10146C>G |
p.P3382= |
Synonymous |
7/7 |
- |
1 |
14-105411642-G-T |
c.10146C>A |
p.P3382= |
Synonymous |
7/7 |
- |
1 |
14-105411643-G-A |
c.10145C>T |
p.P3382L |
Missense |
7/7 |
- |
4 |
14-105411641-CG-C |
c.10146del |
p.E3383Rfs*38 |
Frameshift |
7/7 |
- |
1 |
14-105411645-C-A |
c.10143G>T |
p.V3381= |
Synonymous |
7/7 |
- |
2 |
14-105411645-C-T |
c.10143G>A |
p.V3381= |
Synonymous |
7/7 |
- |
1 |
14-105411656-C-G |
c.10132G>C |
p.E3378Q |
Missense |
7/7 |
- |
2 |
14-105411656-C-T |
c.10132G>A |
p.E3378K |
Missense |
7/7 |
- |
2 |
14-105411657-C-T |
c.10131G>A |
p.P3377= |
Synonymous |
7/7 |
- |
3 |
14-105411658-G-A |
c.10130C>T |
p.P3377L |
Missense |
7/7 |
- |
5 |
14-105411662-G-A |
c.10126C>T |
p.L3376F |
Missense |
7/7 |
- |
1 |
14-105411663-C-T |
c.10125G>A |
p.K3375= |
Synonymous |
7/7 |
- |
1 |
14-105411667-A-C |
c.10121T>G |
p.V3374G |
Missense |
7/7 |
- |
1 |
14-105411668-C-G |
c.10120G>C |
p.V3374L |
Missense |
7/7 |
- |
1 |
14-105411668-C-T |
c.10120G>A |
p.V3374M |
Missense |
7/7 |
- |
2 |
14-105411669-G-A |
c.10119C>T |
p.D3373= |
Synonymous |
7/7 |
- |
5 |
14-105411671-C-T |
c.10117G>A |
p.D3373N |
Missense |
7/7 |
- |
1 |
14-105411676-T-A |
c.10112A>T |
p.Q3371L |
Missense |
7/7 |
- |
1 |
14-105411678-G-A |
c.10110C>T |
p.G3370= |
Synonymous |
7/7 |
- |
1 |
14-105411679-C-G |
c.10109G>C |
p.G3370A |
Missense |
7/7 |
- |
1 |
14-105411680-C-G |
c.10108G>C |
p.G3370R |
Missense |
7/7 |
- |
3 |
14-105411686-G-T |
c.10102C>A |
p.Q3368K |
Missense |
7/7 |
- |
1 |
14-105411692-C-G |
c.10096G>C |
p.E3366Q |
Missense |
7/7 |
- |
1 |
14-105411692-C-T |
c.10096G>A |
p.E3366K |
Missense |
7/7 |
- |
1 |
14-105411699-C-A |
c.10089G>T |
p.V3363= |
Synonymous |
7/7 |
- |
1 |
14-105411699-C-G |
c.10089G>C |
p.V3363= |
Synonymous |
7/7 |
- |
1 |
14-105411699-C-T |
c.10089G>A |
p.V3363= |
Synonymous |
7/7 |
- |
1 |
14-105411700-A-G |
c.10088T>C |
p.V3363A |
Missense |
7/7 |
- |
30 |
14-105411701-C-A |
c.10087G>T |
p.V3363L |
Missense |
7/7 |
- |
3 |
14-105411701-C-G |
c.10087G>C |
p.V3363L |
Missense |
7/7 |
- |
1 |
14-105411702-A-G |
c.10086T>C |
p.S3362= |
Synonymous |
7/7 |
- |
1 |
14-105411703-G-A |
c.10085C>T |
p.S3362F |
Missense |
7/7 |
- |
5 |
14-105411704-A-T |
c.10084T>A |
p.S3362T |
Missense |
7/7 |
- |
1 |
14-105411705-A-C |
c.10083T>G |
p.P3361= |
Synonymous |
7/7 |
- |
1 |
14-105411705-A-G |
c.10083T>C |
p.P3361= |
Synonymous |
7/7 |
- |
1 |
14-105411705-A-T |
c.10083T>A |
p.P3361= |
Synonymous |
7/7 |
- |
1 |
14-105411707-G-A |
c.10081C>T |
p.P3361S |
Missense |
7/7 |
- |
8 |
14-105411708-G-A |
c.10080C>T |
p.L3360= |
Synonymous |
7/7 |
- |
2 |
14-105411709-A-G |
c.10079T>C |
p.L3360P |
Missense |
7/7 |
- |
1 |
14-105411711-C-A |
c.10077G>T |
p.Q3359H |
Missense |
7/7 |
- |
1 |
14-105411713-G-T |
c.10075C>A |
p.Q3359K |
Missense |
7/7 |
- |
1 |
14-105411722-G-T |
c.10066C>A |
p.L3356I |
Missense |
7/7 |
- |
1 |
14-105411723-G-A |
c.10065C>T |
p.D3355= |
Synonymous |
7/7 |
- |
3 |
14-105411723-G-C |
c.10065C>G |
p.D3355E |
Missense |
7/7 |
- |
2 |
14-105411723-G-T |
c.10065C>A |
p.D3355E |
Missense |
7/7 |
- |
3 |
14-105411729-GG-CA |
c.10058_10059delinsTG |
p.T3353M |
Missense |
7/7 |
- |
1 |
14-105411731-T-C |
c.10057A>G |
p.T3353A |
Missense |
7/7 |
- |
1 |
14-105411733-T-C |
c.10055A>G |
p.K3352R |
Missense |
7/7 |
- |
1 |
14-105411735-G-C |
c.10053C>G |
p.L3351= |
Synonymous |
7/7 |
- |
3 |
14-105411744-C-A |
c.10044G>T |
p.Q3348H |
Missense |
7/7 |
- |
1 |
14-105411744-C-G |
c.10044G>C |
p.Q3348H |
Missense |
7/7 |
- |
1 |
14-105411747-C-A |
c.10041G>T |
p.M3347I |
Missense |
7/7 |
- |
1 |
14-105411747-C-G |
c.10041G>C |
p.M3347I |
Missense |
7/7 |
- |
1 |
14-105411747-C-T |
c.10041G>A |
p.M3347I |
Missense |
7/7 |
- |
1 |
14-105411751-G-A |
c.10037C>T |
p.S3346F |
Missense |
7/7 |
- |
1 |
14-105411757-A-T |
c.10031T>A |
p.L3344H |
Missense |
7/7 |
- |
1 |
14-105411760-C-A |
c.10028G>T |
p.S3343I |
Missense |
7/7 |
- |
1 |
14-105411764-C-T |
c.10024G>A |
p.V3342M |
Missense |
7/7 |
- |
2 |
14-105411765-G-A |
c.10023C>T |
p.D3341= |
Synonymous |
7/7 |
- |
3 |
14-105411765-G-C |
c.10023C>G |
p.D3341E |
Missense |
7/7 |
- |
1 |
14-105411765-G-T |
c.10023C>A |
p.D3341E |
Missense |
7/7 |
- |
1 |
14-105411766-T-A |
c.10022A>T |
p.D3341V |
Missense |
7/7 |
- |
2 |
14-105411767-C-T |
c.10021G>A |
p.D3341N |
Missense |
7/7 |
- |
2 |
14-105411768-G-A |
c.10020C>T |
p.A3340= |
Synonymous |
7/7 |
- |
2 |
14-105411768-G-C |
c.10020C>G |
p.A3340= |
Synonymous |
7/7 |
- |
2 |
14-105411768-G-T |
c.10020C>A |
p.A3340= |
Synonymous |
7/7 |
- |
2 |
14-105411769-G-A |
c.10019C>T |
p.A3340V |
Missense |
7/7 |
- |
1 |
14-105411769-G-C |
c.10019C>G |
p.A3340G |
Missense |
7/7 |
- |
1 |
14-105411773-C-A |
c.10015G>T |
p.E3339* |
Nonsense |
7/7 |
- |
1 |
14-105411773-C-T |
c.10015G>A |
p.E3339K |
Missense |
7/7 |
- |
1 |
14-105411774-C-T |
c.10014G>A |
p.A3338= |
Synonymous |
7/7 |
- |
1 |
14-105411775-G-A |
c.10013C>T |
p.A3338V |
Missense |
7/7 |
- |
3 |
14-105411777-C-A |
c.10011G>T |
p.K3337N |
Missense |
7/7 |
- |
1 |
14-105411777-C-G |
c.10011G>C |
p.K3337N |
Missense |
7/7 |
- |
1 |
14-105411780-C-A |
c.10008G>T |
p.P3336= |
Synonymous |
7/7 |
- |
4 |
14-105411780-C-G |
c.10008G>C |
p.P3336= |
Synonymous |
7/7 |
- |
4 |
14-105411780-C-T |
c.10008G>A |
p.P3336= |
Synonymous |
7/7 |
- |
4 |
14-105411781-G-A |
c.10007C>T |
p.P3336L |
Missense |
7/7 |
- |
30 |
14-105411782-G-A |
c.10006C>T |
p.P3336S |
Missense |
7/7 |
- |
1 |
14-105411783-C-A |
c.10005G>T |
p.A3335= |
Synonymous |
7/7 |
- |
1 |
14-105411783-C-G |
c.10005G>C |
p.A3335= |
Synonymous |
7/7 |
- |
1 |
14-105411783-C-T |
c.10005G>A |
p.A3335= |
Synonymous |
7/7 |
- |
3 |
14-105411784-G-A |
c.10004C>T |
p.A3335V |
Missense |
7/7 |
- |
3 |
14-105411791-C-T |
c.9997G>A |
p.V3333M |
Missense |
7/7 |
- |
1 |
14-105411797-C-G |
c.9991G>C |
p.V3331L |
Missense |
7/7 |
- |
2 |
14-105411798-C-A |
c.9990G>T |
p.S3330= |
Synonymous |
7/7 |
- |
1 |
14-105411798-C-G |
c.9990G>C |
p.S3330= |
Synonymous |
7/7 |
- |
2 |
14-105411798-C-T |
c.9990G>A |
p.S3330= |
Synonymous |
7/7 |
- |
2 |
14-105411806-G-A |
c.9982C>T |
p.Q3328* |
Nonsense |
7/7 |
- |
1 |
14-105411806-G-C |
c.9982C>G |
p.Q3328E |
Missense |
7/7 |
- |
1 |
14-105411807-G-C |
c.9981C>G |
p.I3327M |
Missense |
7/7 |
- |
2 |
14-105411816-G-A |
c.9972C>T |
p.G3324= |
Synonymous |
7/7 |
- |
1 |
14-105411816-G-C |
c.9972C>G |
p.G3324= |
Synonymous |
7/7 |
- |
1 |
14-105411816-G-T |
c.9972C>A |
p.G3324= |
Synonymous |
7/7 |
- |
1 |
14-105411820-G-A |
c.9968C>T |
p.P3323L |
Missense |
7/7 |
- |
2 |
14-105411828-C-A |
c.9960G>T |
p.A3320= |
Synonymous |
7/7 |
- |
1 |
14-105411828-C-G |
c.9960G>C |
p.A3320= |
Synonymous |
7/7 |
- |
1 |
14-105411828-C-T |
c.9960G>A |
p.A3320= |
Synonymous |
7/7 |
- |
1 |
14-105411829-G-A |
c.9959C>T |
p.A3320V |
Missense |
7/7 |
- |
2 |
14-105411837-C-A |
c.9951G>T |
p.S3317= |
Synonymous |
7/7 |
- |
2 |
14-105411837-C-G |
c.9951G>C |
p.S3317= |
Synonymous |
7/7 |
- |
2 |
14-105411837-C-T |
c.9951G>A |
p.S3317= |
Synonymous |
7/7 |
- |
3 |
14-105411838-G-A |
c.9950C>T |
p.S3317L |
Missense |
7/7 |
- |
6 |
14-105411841-G-A |
c.9947C>T |
p.P3316L |
Missense |
7/7 |
- |
2 |
14-105411842-G-A |
c.9946C>T |
p.P3316S |
Missense |
7/7 |
- |
2 |
14-105411846-C-A |
c.9942G>T |
p.K3314N |
Missense |
7/7 |
- |
1 |
14-105411846-C-G |
c.9942G>C |
p.K3314N |
Missense |
7/7 |
- |
1 |
14-105411846-C-T |
c.9942G>A |
p.K3314= |
Synonymous |
7/7 |
- |
1 |
14-105411849-G-A |
c.9939C>T |
p.F3313= |
Synonymous |
7/7 |
- |
1 |
14-105411849-G-C |
c.9939C>G |
p.F3313L |
Missense |
7/7 |
- |
1 |
14-105411849-G-T |
c.9939C>A |
p.F3313L |
Missense |
7/7 |
- |
1 |
14-105411851-A-G |
c.9937T>C |
p.F3313L |
Missense |
7/7 |
- |
1 |
14-105411852-T-C |
c.9936A>G |
p.K3312= |
Synonymous |
7/7 |
- |
1 |
14-105411853-T-G |
c.9935A>C |
p.K3312T |
Missense |
7/7 |
- |
1 |
14-105411869-T-C |
c.9919A>G |
p.K3307E |
Missense |
7/7 |
- |
1 |
14-105411871-C-T |
c.9917G>A |
p.S3306N |
Missense |
7/7 |
- |
1 |
14-105411875-C-G |
c.9913G>C |
p.D3305H |
Missense |
7/7 |
- |
1 |
14-105411880-G-A |
c.9908C>T |
p.A3303V |
Missense |
7/7 |
- |
5 |
14-105411883-G-C |
c.9905C>G |
p.T3302S |
Missense |
7/7 |
- |
1 |
14-105411887-C-A |
c.9901G>T |
p.V3301L |
Missense |
7/7 |
- |
1 |
14-105411887-C-G |
c.9901G>C |
p.V3301L |
Missense |
7/7 |
- |
1 |
14-105411890-C-T |
c.9898G>A |
p.D3300N |
Missense |
7/7 |
- |
1 |
14-105411894-G-C |
c.9894C>G |
p.D3298E |
Missense |
7/7 |
- |
1 |
14-105411894-G-T |
c.9894C>A |
p.D3298E |
Missense |
7/7 |
- |
2 |
14-105411896-C-T |
c.9892G>A |
p.D3298N |
Missense |
7/7 |
- |
3 |
14-105411898-G-T |
c.9890C>A |
p.A3297D |
Missense |
7/7 |
- |
3 |
14-105411899-C-T |
c.9889G>A |
p.A3297T |
Missense |
7/7 |
- |
2 |
14-105411904-G-C |
c.9884C>G |
p.S3295C |
Missense |
7/7 |
- |
2 |
14-105411906-C-A |
c.9882G>T |
p.L3294= |
Synonymous |
7/7 |
- |
1 |
14-105411906-C-G |
c.9882G>C |
p.L3294= |
Synonymous |
7/7 |
- |
1 |
14-105411906-C-T |
c.9882G>A |
p.L3294= |
Synonymous |
7/7 |
- |
1 |
14-105411908-G-A |
c.9880C>T |
p.L3294= |
Synonymous |
7/7 |
- |
1 |
14-105411909-G-A |
c.9879C>T |
p.D3293= |
Synonymous |
7/7 |
- |
1 |
14-105411912-C-A |
c.9876G>T |
p.G3292= |
Synonymous |
7/7 |
- |
1 |
14-105411915-C-A |
c.9873G>T |
p.E3291D |
Missense |
7/7 |
- |
3 |
14-105411915-C-G |
c.9873G>C |
p.E3291D |
Missense |
7/7 |
- |
2 |
14-105411931-T-C |
c.9857A>G |
p.D3286G |
Missense |
7/7 |
- |
1 |
14-105411932-C-G |
c.9856G>C |
p.D3286H |
Missense |
7/7 |
- |
1 |
14-105411933-C-T |
c.9855G>A |
p.L3285= |
Synonymous |
7/7 |
- |
2 |
14-105411938-T-G |
c.9850A>C |
p.K3284Q |
Missense |
7/7 |
- |
1 |
14-105411948-G-A |
c.9840C>T |
p.A3280= |
Synonymous |
7/7 |
- |
1 |
14-105411949-G-A |
c.9839C>T |
p.A3280V |
Missense |
7/7 |
- |
1 |
14-105411953-C-G |
c.9835G>C |
p.E3279Q |
Missense |
7/7 |
- |
1 |
14-105411953-C-T |
c.9835G>A |
p.E3279K |
Missense |
7/7 |
- |
1 |
14-105411954-G-A |
c.9834C>T |
p.V3278= |
Synonymous |
7/7 |
- |
1 |
14-105411954-G-C |
c.9834C>G |
p.V3278= |
Synonymous |
7/7 |
- |
1 |
14-105411954-G-T |
c.9834C>A |
p.V3278= |
Synonymous |
7/7 |
- |
1 |
14-105411957-G-A |
c.9831C>T |
p.D3277= |
Synonymous |
7/7 |
- |
12 |
14-105411957-G-C |
c.9831C>G |
p.D3277E |
Missense |
7/7 |
- |
1 |
14-105411957-G-T |
c.9831C>A |
p.D3277E |
Missense |
7/7 |
- |
1 |
14-105411963-C-G |
c.9825G>C |
p.E3275D |
Missense |
7/7 |
- |
1 |
14-105411967-A-C |
c.9821T>G |
p.M3274R |
Missense |
7/7 |
- |
1 |
14-105411968-T-C |
c.9820A>G |
p.M3274V |
Missense |
7/7 |
- |
1 |
14-105411969-G-A |
c.9819C>T |
p.S3273= |
Synonymous |
7/7 |
- |
1 |
14-105411971-T-A |
c.9817A>T |
p.S3273C |
Missense |
7/7 |
- |
2 |
14-105411971-T-C |
c.9817A>G |
p.S3273G |
Missense |
7/7 |
- |
18 |
14-105411971-T-G |
c.9817A>C |
p.S3273R |
Missense |
7/7 |
- |
2 |
14-105411975-C-G |
c.9813G>C |
p.Q3271H |
Missense |
7/7 |
- |
1 |
14-105411976-T-A |
c.9812A>T |
p.Q3271L |
Missense |
7/7 |
- |
1 |
14-105411986-C-T |
c.9802G>A |
p.E3268K |
Missense |
7/7 |
- |
1 |
14-105411989-C-T |
c.9799G>A |
p.V3267M |
Missense |
7/7 |
- |
2 |
14-105411990-G-A |
c.9798C>T |
p.D3266= |
Synonymous |
7/7 |
- |
1 |
14-105411993-G-A |
c.9795C>T |
p.P3265= |
Synonymous |
7/7 |
- |
1 |
14-105411994-G-A |
c.9794C>T |
p.P3265L |
Missense |
7/7 |
- |
2 |
14-105411995-G-A |
c.9793C>T |
p.P3265S |
Missense |
7/7 |
- |
1 |
14-105411998-C-A |
c.9790G>T |
p.A3264S |
Missense |
7/7 |
- |
3 |
14-105411998-C-T |
c.9790G>A |
p.A3264T |
Missense |
7/7 |
- |
1 |
14-105412000-G-A |
c.9788C>T |
p.T3263M |
Missense |
7/7 |
- |
4 |
14-105412005-A-G |
c.9783T>C |
p.D3261= |
Synonymous |
7/7 |
- |
9 |
14-105412007-C-T |
c.9781G>A |
p.D3261N |
Missense |
7/7 |
- |
1 |
14-105412009-A-C |
c.9779T>G |
p.M3260R |
Missense |
7/7 |
- |
3 |
14-105412009-A-G |
c.9779T>C |
p.M3260T |
Missense |
7/7 |
- |
25 |
14-105412014-C-A |
c.9774G>T |
p.P3258= |
Synonymous |
7/7 |
- |
1 |
14-105412014-C-G |
c.9774G>C |
p.P3258= |
Synonymous |
7/7 |
- |
1 |
14-105412014-C-T |
c.9774G>A |
p.P3258= |
Synonymous |
7/7 |
- |
1 |
14-105412015-G-A |
c.9773C>T |
p.P3258L |
Missense |
7/7 |
- |
1 |
14-105412022-T-TA |
c.9765_9766insT |
p.K3256* |
Nonsense |
7/7 |
- |
1 |
14-105412023-C-A |
c.9765G>T |
p.L3255= |
Synonymous |
7/7 |
- |
4 |
14-105412023-C-G |
c.9765G>C |
p.L3255= |
Synonymous |
7/7 |
- |
4 |
14-105412023-C-T |
c.9765G>A |
p.L3255= |
Synonymous |
7/7 |
- |
4 |
14-105412025-G-A |
c.9763C>T |
p.L3255= |
Synonymous |
7/7 |
- |
4 |
14-105412026-G-A |
c.9762C>T |
p.D3254= |
Synonymous |
7/7 |
- |
1 |
14-105412026-G-C |
c.9762C>G |
p.D3254E |
Missense |
7/7 |
- |
1 |
14-105412026-G-T |
c.9762C>A |
p.D3254E |
Missense |
7/7 |
- |
2 |
14-105412035-G-C |
c.9753C>G |
p.P3251= |
Synonymous |
7/7 |
- |
1 |
14-105412039-C-T |
c.9749G>A |
p.G3250D |
Missense |
7/7 |
- |
2 |
14-105412041-C-A |
c.9747G>T |
p.K3249N |
Missense |
7/7 |
- |
2 |
14-105412041-C-G |
c.9747G>C |
p.K3249N |
Missense |
7/7 |
- |
1 |
14-105412048-T-C |
c.9740A>G |
p.D3247G |
Missense |
7/7 |
- |
2 |
14-105412056-G-A |
c.9732C>T |
p.P3244= |
Synonymous |
7/7 |
- |
1 |
14-105412056-G-C |
c.9732C>G |
p.P3244= |
Synonymous |
7/7 |
- |
1 |
14-105412056-G-T |
c.9732C>A |
p.P3244= |
Synonymous |
7/7 |
- |
1 |
14-105412058-G-C |
c.9730C>G |
p.P3244A |
Missense |
7/7 |
- |
2 |
14-105412058-G-T |
c.9730C>A |
p.P3244T |
Missense |
7/7 |
- |
3 |
14-105412059-G-T |
c.9729C>A |
p.G3243= |
Synonymous |
7/7 |
- |
1 |
14-105412065-G-A |
c.9723C>T |
p.R3241= |
Synonymous |
7/7 |
- |
1 |
14-105412065-G-C |
c.9723C>G |
p.R3241= |
Synonymous |
7/7 |
- |
1 |
14-105412065-GCG-CCA |
c.9721_9723delinsTGG |
p.R3241W |
Missense |
7/7 |
- |
1 |
14-105412065-G-T |
c.9723C>A |
p.R3241= |
Synonymous |
7/7 |
- |
1 |
14-105412066-C-A |
c.9722G>T |
p.R3241L |
Missense |
7/7 |
- |
4 |
14-105412066-C-T |
c.9722G>A |
p.R3241H |
Missense |
7/7 |
- |
26 |
14-105412067-G-A |
c.9721C>T |
p.R3241C |
Missense |
7/7 |
- |
3 |
14-105412083-C-A |
c.9705G>T |
p.K3235N |
Missense |
7/7 |
- |
2 |
14-105412083-C-G |
c.9705G>C |
p.K3235N |
Missense |
7/7 |
- |
2 |
14-105412086-G-A |
c.9702C>T |
p.F3234= |
Synonymous |
7/7 |
- |
3 |
14-105412098-C-A |
c.9690G>T |
p.Q3230H |
Missense |
7/7 |
- |
2 |
14-105412098-C-G |
c.9690G>C |
p.Q3230H |
Missense |
7/7 |
- |
2 |
14-105412100-G-C |
c.9688C>G |
p.Q3230E |
Missense |
7/7 |
- |
2 |
14-105412103-A-C |
c.9685T>G |
p.L3229V |
Missense |
7/7 |
- |
2 |
14-105412107-G-A |
c.9681C>T |
p.P3227= |
Synonymous |
7/7 |
- |
1 |
14-105412107-G-C |
c.9681C>G |
p.P3227= |
Synonymous |
7/7 |
- |
1 |
14-105412107-G-T |
c.9681C>A |
p.P3227= |
Synonymous |
7/7 |
- |
1 |
14-105412109-G-A |
c.9679C>T |
p.P3227S |
Missense |
7/7 |
- |
1 |
14-105412114-T-A |
c.9674A>T |
p.H3225L |
Missense |
7/7 |
- |
2 |
14-105412116-CCC-ACA |
c.9670_9672delinsTGT |
p.G3224C |
Missense |
7/7 |
- |
1 |
14-105412117-C-T |
c.9671G>A |
p.G3224E |
Missense |
7/7 |
- |
2 |
14-105412124-G-T |
c.9664C>A |
p.L3222I |
Missense |
7/7 |
- |
1 |
14-105412126-C-G |
c.9662G>C |
p.G3221A |
Missense |
7/7 |
- |
1 |
14-105412128-A-C |
c.9660T>G |
p.A3220= |
Synonymous |
7/7 |
- |
1 |
14-105412128-A-G |
c.9660T>C |
p.A3220= |
Synonymous |
7/7 |
- |
1 |
14-105412128-A-T |
c.9660T>A |
p.A3220= |
Synonymous |
7/7 |
- |
1 |
14-105412132-C-G |
c.9656G>C |
p.G3219A |
Missense |
7/7 |
- |
2 |
14-105412132-C-T |
c.9656G>A |
p.G3219E |
Missense |
7/7 |
- |
1 |
14-105412136-C-T |
c.9652G>A |
p.E3218K |
Missense |
7/7 |
- |
1 |
14-105412137-G-A |
c.9651C>T |
p.L3217= |
Synonymous |
7/7 |
- |
3 |
14-105412137-G-C |
c.9651C>G |
p.L3217= |
Synonymous |
7/7 |
- |
1 |
14-105412137-G-T |
c.9651C>A |
p.L3217= |
Synonymous |
7/7 |
- |
1 |
14-105412138-A-C |
c.9650T>G |
p.L3217R |
Missense |
7/7 |
- |
2 |
14-105412138-A-G |
c.9650T>C |
p.L3217P |
Missense |
7/7 |
- |
25 |
14-105412138-A-T |
c.9650T>A |
p.L3217H |
Missense |
7/7 |
- |
2 |
14-105412142-C-T |
c.9646G>A |
p.V3216I |
Missense |
7/7 |
- |
1 |
14-105412143-G-A |
c.9645C>T |
p.H3215= |
Synonymous |
7/7 |
- |
1 |
14-105412151-C-CT |
c.9636dup |
p.E3213Rfs*143 |
Frameshift |
7/7 |
- |
1 |
14-105412155-G-A |
c.9633C>T |
p.L3211= |
Synonymous |
7/7 |
- |
1 |
14-105412162-A-G |
c.9626T>C |
p.V3209A |
Missense |
7/7 |
- |
1 |
14-105412163-C-A |
c.9625G>T |
p.V3209L |
Missense |
7/7 |
- |
15 |
14-105412163-C-G |
c.9625G>C |
p.V3209L |
Missense |
7/7 |
- |
20 |
14-105412163-C-T |
c.9625G>A |
p.V3209M |
Missense |
7/7 |
- |
4 |
14-105412178-C-T |
c.9610G>A |
p.A3204T |
Missense |
7/7 |
- |
1 |
14-105412191-T-G |
c.9597A>C |
p.Q3199H |
Missense |
7/7 |
- |
1 |
14-105412194-G-A |
c.9594C>T |
p.A3198= |
Synonymous |
7/7 |
- |
3 |
14-105412200-G-A |
c.9588C>T |
p.P3196= |
Synonymous |
7/7 |
- |
1 |
14-105412200-G-C |
c.9588C>G |
p.P3196= |
Synonymous |
7/7 |
- |
1 |
14-105412203-G-A |
c.9585C>T |
p.P3195= |
Synonymous |
7/7 |
- |
1 |
14-105412199-AG-A |
c.9588del |
p.S3197Lfs*13 |
Frameshift |
7/7 |
- |
1 |
14-105412208-C-G |
c.9580G>C |
p.E3194Q |
Missense |
7/7 |
- |
3 |
14-105412215-G-A |
c.9573C>T |
p.I3191= |
Synonymous |
7/7 |
- |
2 |
14-105412215-G-T |
c.9573C>A |
p.I3191= |
Synonymous |
7/7 |
- |
1 |
14-105412217-T-G |
c.9571A>C |
p.I3191L |
Missense |
7/7 |
- |
1 |
14-105412225-T-G |
c.9563A>C |
p.N3188T |
Missense |
7/7 |
- |
10 |
14-105412230-C-A |
c.9558G>T |
p.L3186= |
Synonymous |
7/7 |
- |
2 |
14-105412230-C-G |
c.9558G>C |
p.L3186= |
Synonymous |
7/7 |
- |
1 |
14-105412232-G-T |
c.9556C>A |
p.L3186M |
Missense |
7/7 |
- |
1 |
14-105412235-C-A |
c.9553G>T |
p.D3185Y |
Missense |
7/7 |
- |
1 |
14-105412235-C-T |
c.9553G>A |
p.D3185N |
Missense |
7/7 |
- |
1 |
14-105412239-C-T |
c.9549G>A |
p.Q3183= |
Synonymous |
7/7 |
- |
1 |
14-105412242-C-A |
c.9546G>T |
p.M3182I |
Missense |
7/7 |
- |
2 |
14-105412242-C-G |
c.9546G>C |
p.M3182I |
Missense |
7/7 |
- |
2 |
14-105412242-C-T |
c.9546G>A |
p.M3182I |
Missense |
7/7 |
- |
2 |
14-105412245-G-A |
c.9543C>T |
p.S3181= |
Synonymous |
7/7 |
- |
1 |
14-105412257-CAGGTC-GAGGTA |
c.9526_9531delinsTACCTC |
p.D3176Y |
MultiAAMissense |
7/7 |
- |
1 |
14-105412259-G-C |
c.9529C>G |
p.L3177V |
Missense |
7/7 |
- |
12 |
14-105412259-G-T |
c.9529C>A |
p.L3177M |
Missense |
7/7 |
- |
6 |
14-105412260-G-A |
c.9528C>T |
p.D3176= |
Synonymous |
7/7 |
- |
1 |
14-105412260-G-C |
c.9528C>G |
p.D3176E |
Missense |
7/7 |
- |
9 |
14-105412260-G-T |
c.9528C>A |
p.D3176E |
Missense |
7/7 |
- |
8 |
14-105412263-G-A |
c.9525C>T |
p.A3175= |
Synonymous |
7/7 |
- |
1 |
14-105412271-C-T |
c.9517G>A |
p.V3173M |
Missense |
7/7 |
- |
1 |
14-105412279-G-A |
c.9509C>T |
p.A3170V |
Missense |
7/7 |
- |
1 |
14-105412280-C-A |
c.9508G>T |
p.A3170S |
Missense |
7/7 |
- |
1 |
14-105412282-G-A |
c.9506C>T |
p.S3169F |
Missense |
7/7 |
- |
1 |
14-105412282-G-C |
c.9506C>G |
p.S3169C |
Missense |
7/7 |
- |
1 |
14-105412284-C-A |
c.9504G>T |
p.V3168= |
Synonymous |
7/7 |
- |
1 |
14-105412284-C-G |
c.9504G>C |
p.V3168= |
Synonymous |
7/7 |
- |
1 |
14-105412284-C-T |
c.9504G>A |
p.V3168= |
Synonymous |
7/7 |
- |
1 |
14-105412288-T-A |
c.9500A>T |
p.D3167V |
Missense |
7/7 |
- |
1 |
14-105412292-C-A |
c.9496G>T |
p.V3166L |
Missense |
7/7 |
- |
1 |
14-105412292-C-G |
c.9496G>C |
p.V3166L |
Missense |
7/7 |
- |
1 |
14-105412294-A-G |
c.9494T>C |
p.L3165S |
Missense |
7/7 |
- |
8 |
14-105412298-C-A |
c.9490G>T |
p.V3164F |
Missense |
7/7 |
- |
1 |
14-105412299-C-T |
c.9489G>A |
p.E3163= |
Synonymous |
7/7 |
- |
1 |
14-105412302-A-G |
c.9486T>C |
p.I3162= |
Synonymous |
7/7 |
- |
1 |
14-105412315-G-A |
c.9473C>T |
p.P3158L |
Missense |
7/7 |
- |
5 |
14-105412316-G-A |
c.9472C>T |
p.P3158S |
Missense |
7/7 |
- |
2 |
14-105412317-G-C |
c.9471C>G |
p.A3157= |
Synonymous |
7/7 |
- |
1 |
14-105412322-A-G |
c.9466T>C |
p.S3156P |
Missense |
7/7 |
- |
1 |
14-105412328-C-A |
c.9460G>T |
p.G3154W |
Missense |
7/7 |
- |
1 |
14-105412332-CG-AC |
c.9455_9456delinsGT |
p.S3152C |
Missense |
7/7 |
- |
1 |
14-105412333-G-A |
c.9455C>T |
p.S3152L |
Missense |
7/7 |
- |
4 |
14-105412335-C-A |
c.9453G>T |
p.P3151= |
Synonymous |
7/7 |
- |
2 |
14-105412335-C-G |
c.9453G>C |
p.P3151= |
Synonymous |
7/7 |
- |
4 |
14-105412335-C-T |
c.9453G>A |
p.P3151= |
Synonymous |
7/7 |
- |
6 |
14-105412344-G-A |
c.9444C>T |
p.F3148= |
Synonymous |
7/7 |
- |
2 |
14-105412344-G-C |
c.9444C>G |
p.F3148L |
Missense |
7/7 |
- |
2 |
14-105412344-G-T |
c.9444C>A |
p.F3148L |
Missense |
7/7 |
- |
2 |
14-105412346-A-G |
c.9442T>C |
p.F3148L |
Missense |
7/7 |
- |
2 |
14-105412347-C-T |
c.9441G>A |
p.K3147= |
Synonymous |
7/7 |
- |
6 |
14-105412352-G-A |
c.9436C>T |
p.P3146S |
Missense |
7/7 |
- |
1 |
14-105412360-A-C |
c.9428T>G |
p.F3143C |
Missense |
7/7 |
- |
1 |
14-105412362-C-T |
c.9426G>A |
p.K3142= |
Synonymous |
7/7 |
- |
1 |
14-105412363-T-C |
c.9425A>G |
p.K3142R |
Missense |
7/7 |
- |
32 |
14-105412366-C-A |
c.9422G>T |
p.S3141I |
Missense |
7/7 |
- |
1 |
14-105412374-G-A |
c.9414C>T |
p.A3138= |
Synonymous |
7/7 |
- |
2 |
14-105412374-G-C |
c.9414C>G |
p.A3138= |
Synonymous |
7/7 |
- |
2 |
14-105412374-G-T |
c.9414C>A |
p.A3138= |
Synonymous |
7/7 |
- |
2 |
14-105412377-A-C |
c.9411T>G |
p.T3137= |
Synonymous |
7/7 |
- |
2 |
14-105412383-A-G |
c.9405T>C |
p.D3135= |
Synonymous |
7/7 |
- |
2 |
14-105412389-G-T |
c.9399C>A |
p.D3133E |
Missense |
7/7 |
- |
1 |
14-105412391-C-T |
c.9397G>A |
p.D3133N |
Missense |
7/7 |
- |
2 |
14-105412392-G-A |
c.9396C>T |
p.A3132= |
Synonymous |
7/7 |
- |
2 |
14-105412393-G-T |
c.9395C>A |
p.A3132D |
Missense |
7/7 |
- |
3 |
14-105412394-C-T |
c.9394G>A |
p.A3132T |
Missense |
7/7 |
- |
1 |
14-105412399-G-C |
c.9389C>G |
p.S3130C |
Missense |
7/7 |
- |
1 |
14-105412403-G-C |
c.9385C>G |
p.L3129V |
Missense |
7/7 |
- |
2 |
14-105412404-G-C |
c.9384C>G |
p.D3128E |
Missense |
7/7 |
- |
2 |
14-105412404-G-T |
c.9384C>A |
p.D3128E |
Missense |
7/7 |
- |
3 |
14-105412407-C-A |
c.9381G>T |
p.G3127= |
Synonymous |
7/7 |
- |
3 |
14-105412411-T-A |
c.9377A>T |
p.E3126V |
Missense |
7/7 |
- |
1 |
14-105412417-C-T |
c.9371G>A |
p.R3124Q |
Missense |
7/7 |
- |
2 |
14-105412418-G-A |
c.9370C>T |
p.R3124W |
Missense |
7/7 |
- |
1 |
14-105412420-G-C |
c.9368C>G |
p.A3123G |
Missense |
7/7 |
- |
2 |
14-105412421-C-T |
c.9367G>A |
p.A3123T |
Missense |
7/7 |
- |
2 |
14-105412423-C-G |
c.9365G>C |
p.G3122A |
Missense |
7/7 |
- |
1 |
14-105412423-C-T |
c.9365G>A |
p.G3122D |
Missense |
7/7 |
- |
2 |
14-105412431-C-T |
c.9357G>A |
p.K3119= |
Synonymous |
7/7 |
- |
2 |
14-105412438-C-A |
c.9350G>T |
p.G3117V |
Missense |
7/7 |
- |
1 |
14-105412438-C-T |
c.9350G>A |
p.G3117E |
Missense |
7/7 |
- |
1 |
14-105412441-G-A |
c.9347C>T |
p.P3116L |
Missense |
7/7 |
- |
2 |
14-105412442-G-A |
c.9346C>T |
p.P3116S |
Missense |
7/7 |
- |
2 |
14-105412443-G-A |
c.9345C>T |
p.A3115= |
Synonymous |
7/7 |
- |
1 |
14-105412444-G-A |
c.9344C>T |
p.A3115V |
Missense |
7/7 |
- |
1 |
14-105412448-C-T |
c.9340G>A |
p.E3114K |
Missense |
7/7 |
- |
1 |
14-105412452-A-G |
c.9336T>C |
p.D3112= |
Synonymous |
7/7 |
- |
4 |
14-105412458-C-G |
c.9330G>C |
p.E3110D |
Missense |
7/7 |
- |
1 |
14-105412458-C-T |
c.9330G>A |
p.E3110= |
Synonymous |
7/7 |
- |
1 |
14-105412464-GC-G |
c.9323del |
p.G3108Afs*29 |
Frameshift |
7/7 |
- |
1 |
14-105412466-C-T |
c.9322G>A |
p.G3108S |
Missense |
7/7 |
- |
4 |
14-105412471-T-A |
c.9317A>T |
p.Q3106L |
Missense |
7/7 |
- |
1 |
14-105412472-G-A |
c.9316C>T |
p.Q3106* |
Nonsense |
7/7 |
- |
1 |
14-105412474-G-A |
c.9314C>T |
p.S3105F |
Missense |
7/7 |
- |
1 |
14-105412480-T-G |
c.9308A>C |
p.E3103A |
Missense |
7/7 |
- |
1 |
14-105412481-C-G |
c.9307G>C |
p.E3103Q |
Missense |
7/7 |
- |
1 |
14-105412484-C-T |
c.9304G>A |
p.V3102M |
Missense |
7/7 |
- |
3 |
14-105412487-C-A |
c.9301G>T |
p.D3101Y |
Missense |
7/7 |
- |
1 |
14-105412487-C-T |
c.9301G>A |
p.D3101N |
Missense |
7/7 |
- |
2 |
14-105412488-G-A |
c.9300C>T |
p.P3100= |
Synonymous |
7/7 |
- |
1 |
14-105412488-G-C |
c.9300C>G |
p.P3100= |
Synonymous |
7/7 |
- |
1 |
14-105412488-G-T |
c.9300C>A |
p.P3100= |
Synonymous |
7/7 |
- |
1 |
14-105412489-G-A |
c.9299C>T |
p.P3100L |
Missense |
7/7 |
- |
2 |
14-105412492-G-A |
c.9296C>T |
p.A3099V |
Missense |
7/7 |
- |
1 |
14-105412493-C-A |
c.9295G>T |
p.A3099S |
Missense |
7/7 |
- |
1 |
14-105412494-C-A |
c.9294G>T |
p.T3098= |
Synonymous |
7/7 |
- |
1 |
14-105412494-C-G |
c.9294G>C |
p.T3098= |
Synonymous |
7/7 |
- |
1 |
14-105412494-C-T |
c.9294G>A |
p.T3098= |
Synonymous |
7/7 |
- |
2 |
14-105412495-G-A |
c.9293C>T |
p.T3098M |
Missense |
7/7 |
- |
12 |
14-105412495-G-C |
c.9293C>G |
p.T3098R |
Missense |
7/7 |
- |
1 |
14-105412500-G-A |
c.9288C>T |
p.D3096= |
Synonymous |
7/7 |
- |
4 |
14-105412500-G-C |
c.9288C>G |
p.D3096E |
Missense |
7/7 |
- |
1 |
14-105412504-G-A |
c.9284C>T |
p.T3095M |
Missense |
7/7 |
- |
2 |
14-105412505-T-C |
c.9283A>G |
p.T3095A |
Missense |
7/7 |
- |
1 |
14-105412506-C-G |
c.9282G>C |
p.K3094N |
Missense |
7/7 |
- |
1 |
14-105412509-C-A |
c.9279G>T |
p.P3093= |
Synonymous |
7/7 |
- |
1 |
14-105412509-C-G |
c.9279G>C |
p.P3093= |
Synonymous |
7/7 |
- |
3 |
14-105412509-C-T |
c.9279G>A |
p.P3093= |
Synonymous |
7/7 |
- |
2 |
14-105412510-G-A |
c.9278C>T |
p.P3093L |
Missense |
7/7 |
- |
1 |
14-105412518-C-A |
c.9270G>T |
p.L3090= |
Synonymous |
7/7 |
- |
4 |
14-105412518-C-G |
c.9270G>C |
p.L3090= |
Synonymous |
7/7 |
- |
4 |
14-105412518-C-T |
c.9270G>A |
p.L3090= |
Synonymous |
7/7 |
- |
4 |
14-105412520-G-A |
c.9268C>T |
p.L3090= |
Synonymous |
7/7 |
- |
4 |
14-105412521-G-A |
c.9267C>T |
p.D3089= |
Synonymous |
7/7 |
- |
2 |
14-105412521-G-C |
c.9267C>G |
p.D3089E |
Missense |
7/7 |
- |
1 |
14-105412521-G-T |
c.9267C>A |
p.D3089E |
Missense |
7/7 |
- |
2 |
14-105412527-C-T |
c.9261G>A |
p.K3087= |
Synonymous |
7/7 |
- |
2 |
14-105412531-G-A |
c.9257C>T |
p.P3086L |
Missense |
7/7 |
- |
1 |
14-105412534-C-T |
c.9254G>A |
p.G3085D |
Missense |
7/7 |
- |
2 |
14-105412535-C-T |
c.9253G>A |
p.G3085S |
Missense |
7/7 |
- |
1 |
14-105412539-G-A |
c.9249C>T |
p.V3083= |
Synonymous |
7/7 |
- |
1 |
14-105412539-G-C |
c.9249C>G |
p.V3083= |
Synonymous |
7/7 |
- |
1 |
14-105412539-G-T |
c.9249C>A |
p.V3083= |
Synonymous |
7/7 |
- |
1 |
14-105412539-GAC-G |
c.9247_9248del |
p.V3083Qfs*80 |
Frameshift |
7/7 |
- |
1 |
14-105412541-C-A |
c.9247G>T |
p.V3083F |
Missense |
7/7 |
- |
1 |
14-105412541-C-T |
c.9247G>A |
p.V3083I |
Missense |
7/7 |
- |
18 |
14-105412542-A-C |
c.9246T>G |
p.D3082E |
Missense |
7/7 |
- |
5 |
14-105412542-A-G |
c.9246T>C |
p.D3082= |
Synonymous |
7/7 |
- |
15 |
14-105412542-A-T |
c.9246T>A |
p.D3082E |
Missense |
7/7 |
- |
5 |
14-105412543-T-TGC |
c.9244_9245insGC |
p.D3082Gfs*10 |
Frameshift |
7/7 |
- |
1 |
14-105412554-T-A |
c.9234A>T |
p.G3078= |
Synonymous |
7/7 |
- |
2 |
14-105412554-T-C |
c.9234A>G |
p.G3078= |
Synonymous |
7/7 |
- |
11 |
14-105412554-T-G |
c.9234A>C |
p.G3078= |
Synonymous |
7/7 |
- |
13 |
14-105412556-C-A |
c.9232G>T |
p.G3078* |
Nonsense |
7/7 |
- |
1 |
14-105412560-G-A |
c.9228C>T |
p.R3076= |
Synonymous |
7/7 |
- |
1 |
14-105412560-G-C |
c.9228C>G |
p.R3076= |
Synonymous |
7/7 |
- |
1 |
14-105412560-G-T |
c.9228C>A |
p.R3076= |
Synonymous |
7/7 |
- |
1 |
14-105412561-C-A |
c.9227G>T |
p.R3076L |
Missense |
7/7 |
- |
4 |
14-105412561-C-T |
c.9227G>A |
p.R3076H |
Missense |
7/7 |
- |
24 |
14-105412562-G-A |
c.9226C>T |
p.R3076C |
Missense |
7/7 |
- |
1 |
14-105412573-G-A |
c.9215C>T |
p.P3072L |
Missense |
7/7 |
- |
1 |
14-105412578-C-A |
c.9210G>T |
p.K3070N |
Missense |
7/7 |
- |
2 |
14-105412578-C-G |
c.9210G>C |
p.K3070N |
Missense |
7/7 |
- |
2 |
14-105412589-G-A |
c.9199C>T |
p.P3067S |
Missense |
7/7 |
- |
1 |
14-105412595-G-A |
c.9193C>T |
p.Q3065* |
Nonsense |
7/7 |
- |
1 |
14-105412598-A-C |
c.9190T>G |
p.L3064V |
Missense |
7/7 |
- |
2 |
14-105412598-A-T |
c.9190T>A |
p.L3064M |
Missense |
7/7 |
- |
2 |
14-105412604-G-A |
c.9184C>T |
p.P3062S |
Missense |
7/7 |
- |
1 |
14-105412608-G-A |
c.9180C>T |
p.H3060= |
Synonymous |
7/7 |
- |
1 |
14-105412609-T-A |
c.9179A>T |
p.H3060L |
Missense |
7/7 |
- |
2 |
14-105412612-C-G |
c.9176G>C |
p.G3059A |
Missense |
7/7 |
- |
1 |
14-105412614-T-C |
c.9174A>G |
p.K3058= |
Synonymous |
7/7 |
- |
1 |
14-105412622-C-A |
c.9166G>T |
p.G3056C |
Missense |
7/7 |
- |
1 |
14-105412626-TCC-CCA |
c.9160_9162delinsTGG |
p.G3054W |
Missense |
7/7 |
- |
1 |
14-105412629-C-A |
c.9159G>T |
p.E3053D |
Missense |
7/7 |
- |
1 |
14-105412629-C-G |
c.9159G>C |
p.E3053D |
Missense |
7/7 |
- |
1 |
14-105412631-C-T |
c.9157G>A |
p.E3053K |
Missense |
7/7 |
- |
3 |
14-105412632-G-A |
c.9156C>T |
p.P3052= |
Synonymous |
7/7 |
- |
1 |
14-105412633-G-A |
c.9155C>T |
p.P3052L |
Missense |
7/7 |
- |
4 |
14-105412634-G-T |
c.9154C>A |
p.P3052T |
Missense |
7/7 |
- |
1 |
14-105412638-G-A |
c.9150C>T |
p.H3050= |
Synonymous |
7/7 |
- |
2 |
14-105412638-G-C |
c.9150C>G |
p.H3050Q |
Missense |
7/7 |
- |
2 |
14-105412638-G-T |
c.9150C>A |
p.H3050Q |
Missense |
7/7 |
- |
2 |
14-105412644-C-A |
c.9144G>T |
p.E3048D |
Missense |
7/7 |
- |
1 |
14-105412649-G-A |
c.9139C>T |
p.P3047S |
Missense |
7/7 |
- |
1 |
14-105412650-G-A |
c.9138C>T |
p.L3046= |
Synonymous |
7/7 |
- |
1 |
14-105412653-C-G |
c.9135G>C |
p.K3045N |
Missense |
7/7 |
- |
1 |
14-105412658-G-C |
c.9130C>G |
p.L3044V |
Missense |
7/7 |
- |
1 |
14-105412661-C-T |
c.9127G>A |
p.D3043N |
Missense |
7/7 |
- |
1 |
14-105412669-C-G |
c.9119G>C |
p.G3040A |
Missense |
7/7 |
- |
1 |
14-105412673-C-T |
c.9115G>A |
p.A3039T |
Missense |
7/7 |
- |
1 |
14-105412675-T-A |
c.9113A>T |
p.Q3038L |
Missense |
7/7 |
- |
1 |
14-105412677-G-A |
c.9111C>T |
p.V3037= |
Synonymous |
7/7 |
- |
2 |
14-105412677-G-C |
c.9111C>G |
p.V3037= |
Synonymous |
7/7 |
- |
2 |
14-105412677-G-T |
c.9111C>A |
p.V3037= |
Synonymous |
7/7 |
- |
2 |
14-105412681-T-C |
c.9107A>G |
p.E3036G |
Missense |
7/7 |
- |
1 |
14-105412688-G-C |
c.9100C>G |
p.Q3034E |
Missense |
7/7 |
- |
1 |
14-105412690-G-A |
c.9098C>T |
p.A3033V |
Missense |
7/7 |
- |
3 |
14-105412691-C-A |
c.9097G>T |
p.A3033S |
Missense |
7/7 |
- |
3 |
14-105412693-AG-A |
c.9095del |
p.S3032Lfs*13 |
Frameshift |
7/7 |
- |
1 |
14-105412693-G-A |
c.9095C>T |
p.S3032F |
Missense |
7/7 |
- |
2 |
14-105412695-G-A |
c.9093C>T |
p.P3031= |
Synonymous |
7/7 |
- |
1 |
14-105412695-G-C |
c.9093C>G |
p.P3031= |
Synonymous |
7/7 |
- |
1 |
14-105412695-G-T |
c.9093C>A |
p.P3031= |
Synonymous |
7/7 |
- |
1 |
14-105412696-G-A |
c.9092C>T |
p.P3031L |
Missense |
7/7 |
- |
2 |
14-105412696-G-C |
c.9092C>G |
p.P3031R |
Missense |
7/7 |
- |
1 |
14-105412698-GG-TA |
c.9089_9090delinsTA |
p.P3030L |
Missense |
7/7 |
- |
1 |
14-105412703-C-G |
c.9085G>C |
p.E3029Q |
Missense |
7/7 |
- |
7 |
14-105412703-C-T |
c.9085G>A |
p.E3029K |
Missense |
7/7 |
- |
1 |
14-105412712-T-G |
c.9076A>C |
p.I3026L |
Missense |
7/7 |
- |
1 |
14-105412715-C-G |
c.9073G>C |
p.D3025H |
Missense |
7/7 |
- |
1 |
14-105412715-C-T |
c.9073G>A |
p.D3025N |
Missense |
7/7 |
- |
1 |
14-105412722-C-A |
c.9066G>T |
p.K3022N |
Missense |
7/7 |
- |
1 |
14-105412722-C-G |
c.9066G>C |
p.K3022N |
Missense |
7/7 |
- |
1 |
14-105412725-C-A |
c.9063G>T |
p.L3021= |
Synonymous |
7/7 |
- |
1 |
14-105412725-C-G |
c.9063G>C |
p.L3021= |
Synonymous |
7/7 |
- |
1 |
14-105412725-C-T |
c.9063G>A |
p.L3021= |
Synonymous |
7/7 |
- |
1 |
14-105412727-G-A |
c.9061C>T |
p.L3021= |
Synonymous |
7/7 |
- |
1 |
14-105412726-A-C |
c.9062T>G |
p.L3021R |
Missense |
7/7 |
- |
1 |
14-105412730-C-G |
c.9058G>C |
p.D3020H |
Missense |
7/7 |
- |
1 |
14-105412731-C-A |
c.9057G>T |
p.G3019= |
Synonymous |
7/7 |
- |
2 |
14-105412731-C-G |
c.9057G>C |
p.G3019= |
Synonymous |
7/7 |
- |
1 |
14-105412731-C-T |
c.9057G>A |
p.G3019= |
Synonymous |
7/7 |
- |
2 |
14-105412732-C-T |
c.9056G>A |
p.G3019E |
Missense |
7/7 |
- |
1 |
14-105412729-TC-T |
c.9058del |
p.D3020Tfs*2 |
Frameshift |
7/7 |
- |
1 |
14-105412734-C-T |
c.9054G>A |
p.Q3018= |
Synonymous |
7/7 |
- |
1 |
14-105412736-G-A |
c.9052C>T |
p.Q3018* |
Nonsense |
7/7 |
- |
2 |
14-105412740-G-A |
c.9048C>T |
p.S3016= |
Synonymous |
7/7 |
- |
2 |
14-105412741-G-A |
c.9047C>T |
p.S3016F |
Missense |
7/7 |
- |
5 |
14-105412749-G-A |
c.9039C>T |
p.S3013= |
Synonymous |
7/7 |
- |
1 |
14-105412754-C-A |
c.9034G>T |
p.V3012L |
Missense |
7/7 |
- |
1 |
14-105412754-C-G |
c.9034G>C |
p.V3012L |
Missense |
7/7 |
- |
1 |
14-105412755-T-A |
c.9033A>T |
p.E3011D |
Missense |
7/7 |
- |
6 |
14-105412755-T-G |
c.9033A>C |
p.E3011D |
Missense |
7/7 |
- |
5 |
14-105412757-C-T |
c.9031G>A |
p.E3011K |
Missense |
7/7 |
- |
2 |
14-105412758-G-A |
c.9030C>T |
p.A3010= |
Synonymous |
7/7 |
- |
1 |
14-105412758-G-C |
c.9030C>G |
p.A3010= |
Synonymous |
7/7 |
- |
1 |
14-105412758-G-T |
c.9030C>A |
p.A3010= |
Synonymous |
7/7 |
- |
1 |
14-105412759-G-C |
c.9029C>G |
p.A3010G |
Missense |
7/7 |
- |
1 |
14-105412760-C-G |
c.9028G>C |
p.A3010P |
Missense |
7/7 |
- |
1 |
14-105412763-C-T |
c.9025G>A |
p.E3009K |
Missense |
7/7 |
- |
2 |
14-105412764-C-A |
c.9024G>T |
p.V3008= |
Synonymous |
7/7 |
- |
2 |
14-105412764-C-G |
|