AHNAK2

AHNAK2 AHNAK nucleoprotein 2

Annotation transcript: NM_138420.4

8144 unique variant annotations were identified in 989 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
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